BGMUT_10 AF134412.1(ABO):c.155+1170C>T BGMUT substitution intron 1 BGMUT_100 AF134412.1(ABO):c.[467C>T; 592C>T; 1061delC; 155+1170C>T] BGMUT complex not within known transcription unit 1 BGMUT_101 AF134412.1(ABO):c.[220C>T; 297A>G; 488C>T; 526C>G; 802G>A; 98+127_98+128insA; 98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 98+539C>A; 155+1095delC; 155+1096delA; 203+375C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC;..] BGMUT complex not within known transcription unit 1 BGMUT_103 AF134412.1(ABO):c.804_805insG BGMUT insertion exon 1 BGMUT_104 AF134412.1(ABO):c.[467C>T; 646T>A; 681G>A] BGMUT substitution exon 1 BGMUT_105 AF134412.1(ABO):c.804delG BGMUT deletion exon 1 BGMUT_106 AF134412.1(ABO):c.373+5G>A BGMUT substitution intron 1 BGMUT_107 AF134412.1(ABO):c.[467C>T; 767T>C] BGMUT substitution exon 1 BGMUT_108 AF134412.1(ABO):c.[467C>T; 761C>T] BGMUT substitution exon 1 BGMUT_109 AF134412.1(ABO):c.664G>A BGMUT substitution exon 1 BGMUT_11 AF134412.1(ABO):c.1054C>T BGMUT substitution exon 1 BGMUT_110 AF134412.1(ABO):c.[467C>T; 803G>C] BGMUT substitution exon 1 BGMUT_111 AF134412.1(ABO):c.[526C>G; 657C>T; 703G>A; 803G>C] BGMUT substitution exon 1 BGMUT_112 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 700C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_113 AF134412.1(ABO):c.[467C>T; 796C>A] BGMUT substitution exon 1 BGMUT_114 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1054C>T] BGMUT substitution exon 1 BGMUT_115 AF134412.1(ABO):c.[297A>G; 526C>G; 646T>A; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_117 AF134412.1(ABO):c.[247G>T; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_118 AF134412.1(ABO):c.[297A>G; 526C>G; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_119 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 700C>G; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_12 AF134412.1(ABO):c.1054C>G BGMUT substitution exon 1 BGMUT_120 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 796C>A; 803G>C; 930G>A; 155+858C>A; 373+42G>T; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_121 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 871G>A; 930G>A] BGMUT substitution exon 1 BGMUT_122 AF134412.1(ABO):c.[297A>G; 526C>G; 641T>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_123 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 669G>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_124 AF134412.1(ABO):c.[297A>G; 502C>T; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_125 AF134412.1(ABO):c.[467C>T; 646T>A; 681G>A; 771C>T; 796C>A; 803G>C; 829G>A] BGMUT substitution exon 1 BGMUT_126 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 873C>G; 930G>A] BGMUT substitution exon 1 BGMUT_127 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 721C>T; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_128 AF134412.1(ABO):c.[297A>G; 526C>G; 548A>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_129 AF134412.1(ABO):c.[297A>G; 526C>G; 539G>A; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_13 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 771C>T; 829G>A] BGMUT substitution exon 1 BGMUT_130 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1036A>G] BGMUT substitution exon 1 BGMUT_131 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1055G>A; 239+530A>G; 373+42G>T; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_132 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 803G>C; 863T>G; 930G>A] BGMUT substitution exon 1 BGMUT_133 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1037A>T; 239+530A>G; 373+42G>T; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_134 AF134412.1(ABO):c.[297A>G; 526C>G; 556A>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_136 K02403.1:g.[3258A>G; 3567A>G; 3660T>C; 3669T>G; 3670C>G] BGMUT substitution exon 1 BGMUT_137 K02403.1:g.3567A>G BGMUT substitution exon 1 BGMUT_139 NM_000592.4:g.3578G>A BGMUT substitution exon 1 BGMUT_14 AF134412.1(ABO):c.[467C>T; 1009A>G] BGMUT substitution exon 1 BGMUT_140 NM_000592.4:g.3269G>A BGMUT substitution exon 1 BGMUT_141 NM_000592.4:g.[3269G>A; 3671C>T; 3680G>T; 3681G>C] BGMUT substitution exon 1 BGMUT_143 M77829.1(AQP1):c.134C>T BGMUT substitution exon 1 BGMUT_144 M77829.1(AQP1):c.1_384del BGMUT deletion not within known transcription unit 0 BGMUT_145 M77829.1(AQP1):c.307_308insT BGMUT insertion exon 1 BGMUT_146 M77829.1(AQP1):c.113C>T BGMUT substitution exon 1 BGMUT_147 M77829.1(AQP1):c.576C>A BGMUT substitution exon 1 BGMUT_148 M77829.1(AQP1):c.232delG BGMUT deletion exon 1 BGMUT_149 M77829.1(AQP1):c.140A>G BGMUT substitution exon 1 BGMUT_15 AF134412.1(ABO):c.1061delC BGMUT deletion exon 1 BGMUT_151 M31516.1(DAF):c.679G>C BGMUT substitution exon 1 BGMUT_152 M31516.1(DAF):c.155G>T BGMUT substitution exon 1 BGMUT_153 M31516.1(DAF):c.155G>C BGMUT substitution exon 1 BGMUT_155 M31516.1(DAF):c.239T>A BGMUT substitution exon 1 BGMUT_156 M31516.1(DAF):c.261G>A BGMUT substitution exon 1 BGMUT_157 M31516.1(DAF):c.263C>A BGMUT substitution exon 1 BGMUT_158 M31516.1(DAF):c.245T>G BGMUT substitution exon 1 BGMUT_159 M31516.1(DAF):c.749C>T BGMUT substitution exon 1 BGMUT_16 AF134412.1(ABO):c.539G>C BGMUT substitution exon 1 BGMUT_160 M31516.1(DAF):c.719G>A BGMUT substitution exon 1 BGMUT_161 M31516.1(DAF):c.647C>T BGMUT substitution exon 1 BGMUT_162 M31516.1(DAF):c.726T>G BGMUT substitution exon 1 BGMUT_164 AF290204.1(DO):c.[378C>T; 624T>C; 793A>G] BGMUT substitution exon 1 BGMUT_165 AF290204.1(DO):c.[323G>T; 378C>T] BGMUT substitution exon 1 BGMUT_166 AF290204.1(DO):c.[350C>T; 378C>T] BGMUT substitution exon 1 BGMUT_167 AF290204.1(DO):c.145-2A>G BGMUT substitution intron 1 BGMUT_168 AF290204.1(DO):c.144+2T>C BGMUT substitution intron 1 BGMUT_169 AF290204.1(DO):c.442C>T BGMUT substitution exon 1 BGMUT_17 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_170 AF290204.1(DO):c.343_350del BGMUT deletion exon 1 BGMUT_171 AF290204.1(DO):c.[323G>T; 624T>C; 793A>G; 898C>G] BGMUT substitution exon 1 BGMUT_172 AF290204.1(DO):c.[323G>T; 624T>C; 793A>G] BGMUT substitution exon 1 BGMUT_174 M27819.1(SLC4A1):c.2561C>T BGMUT substitution exon 1 BGMUT_175 M27819.1(SLC4A1):c.166A>G BGMUT substitution exon 1 BGMUT_176 M27819.1(SLC4A1):c.[166A>G; 2561C>T] BGMUT substitution exon 1 BGMUT_177 M27819.1(SLC4A1):c.[166A>G; 980C>G] BGMUT substitution exon 1 BGMUT_178 M27819.1(SLC4A1):c.118G>A BGMUT substitution exon 1 BGMUT_179 M27819.1(SLC4A1):c.165delC BGMUT deletion exon 1 BGMUT_18 AF134412.1(ABO):c.[239+530A>G; 373+42G>T; 373+44G>A; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution intron 1 BGMUT_180 M27819.1(SLC4A1):c.168delG BGMUT deletion exon 1 BGMUT_181 M27819.1(SLC4A1):c.243G>A BGMUT substitution exon 1 BGMUT_182 M27819.1(SLC4A1):c.268G>A BGMUT substitution exon 1 BGMUT_183 M27819.1(SLC4A1):c.300_301insT BGMUT insertion exon 1 BGMUT_184 M27819.1(SLC4A1):c.343delAC BGMUT deletion exon 1 BGMUT_185 M27819.1(SLC4A1):c.485+3C>A BGMUT substitution intron 1 BGMUT_186 M27819.1(SLC4A1):c.388G>A BGMUT substitution exon 1 BGMUT_187 M27819.1(SLC4A1):c.448C>T BGMUT substitution exon 1 BGMUT_188 M27819.1(SLC4A1):c.510_511insC BGMUT insertion exon 1 BGMUT_189 M27819.1(SLC4A1):c.549_550insA BGMUT insertion exon 1 BGMUT_19 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 373+42G>T; 373+44G>A; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_190 M27819.1(SLC4A1):c.876+1G>T BGMUT substitution intron 1 BGMUT_191 M27819.1(SLC4A1):c.722delT BGMUT deletion exon 1 BGMUT_192 M27819.1(SLC4A1):c.822_823insC BGMUT insertion exon 1 BGMUT_193 M27819.1(SLC4A1):c.854C>A BGMUT substitution exon 1 BGMUT_194 M27819.1(SLC4A1):c.988C>T BGMUT substitution exon 1 BGMUT_195 M27819.1(SLC4A1):c.1257delC BGMUT deletion exon 1 BGMUT_196 M27819.1(SLC4A1):c.1364G>A BGMUT substitution exon 1 BGMUT_197 M27819.1(SLC4A1):c.1366delG BGMUT deletion exon 1 BGMUT_198 M27819.1(SLC4A1):c.1626+1G>A BGMUT substitution intron 1 BGMUT_199 M27819.1(SLC4A1):c.1462G>A BGMUT substitution exon 1 BGMUT_20 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C] BGMUT substitution exon 1 BGMUT_200 M27819.1(SLC4A1):c.1468C>T BGMUT substitution exon 1 BGMUT_201 M27819.1(SLC4A1):c.1474delT BGMUT deletion exon 1 BGMUT_202 M27819.1(SLC4A1):c.1494dup69 BGMUT duplication exon 1 BGMUT_203 M27819.1(SLC4A1):c.1552C>T BGMUT substitution exon 1 BGMUT_204 M27819.1(SLC4A1):c.1848_1849insC BGMUT insertion exon 1 BGMUT_205 M27819.1(SLC4A1):c.1884C>A BGMUT substitution exon 1 BGMUT_206 M27819.1(SLC4A1):c.1938delG BGMUT deletion exon 1 BGMUT_207 M27819.1(SLC4A1):c.1987del BGMUT deletion exon 1 BGMUT_208 M27819.1(SLC4A1):c.2119C>T BGMUT substitution exon 1 BGMUT_209 M27819.1(SLC4A1):c.2140G>A BGMUT substitution exon 1 BGMUT_21 AF134412.1(ABO):c.[297A>G; 526C>G; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_210 M27819.1(SLC4A1):c.2279G>A BGMUT substitution exon 1 BGMUT_211 M27819.1(SLC4A1):c.2278C>T BGMUT substitution exon 1 BGMUT_212 M27819.1(SLC4A1):c.2312G>A BGMUT substitution exon 1 BGMUT_213 M27819.1(SLC4A1):c.2348T>A BGMUT substitution exon 1 BGMUT_214 M27819.1(SLC4A1):c.2422C>T BGMUT substitution exon 1 BGMUT_215 M27819.1(SLC4A1):c.2423G>A BGMUT substitution exon 1 BGMUT_216 M27819.1(SLC4A1):c.2455_2464insCACCCaGATC BGMUT insertion exon 1 BGMUT_217 M27819.1(SLC4A1):c.2501A>C BGMUT substitution exon 1 BGMUT_218 M27819.1(SLC4A1):c.2510C>T BGMUT substitution exon 1 BGMUT_219 M27819.1(SLC4A1):c.2509A>G BGMUT substitution exon 1 BGMUT_22 AF134412.1(ABO):c.[526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_220 M27819.1(SLC4A1):c.2603C>T BGMUT substitution exon 1 BGMUT_221 M27819.1(SLC4A1):c.2608C>T BGMUT substitution exon 1 BGMUT_222 M27819.1(SLC4A1):c.2952delC BGMUT deletion exon 1 BGMUT_223 M27819.1(SLC4A1):c.[166A>G; 1200_1224del] BGMUT complex exon 1 BGMUT_224 M27819.1(SLC4A1):c.1766G>A BGMUT substitution exon 1 BGMUT_225 M27819.1(SLC4A1):c.1765C>T BGMUT substitution exon 1 BGMUT_226 M27819.1(SLC4A1):c.1765C>A BGMUT substitution exon 1 BGMUT_227 M27819.1(SLC4A1):c.2703_2733del BGMUT deletion exon 1 BGMUT_228 M27819.1(SLC4A1):c.1838C>T BGMUT substitution exon 1 BGMUT_229 M27819.1(SLC4A1):c.[92T>C; 166A>G; 2102G>A] BGMUT substitution exon 1 BGMUT_23 AF134412.1(ABO):c.261delG #insertion in reference# BGMUT deletion exon 1 BGMUT_230 M27819.1(SLC4A1):c.2573C>A BGMUT substitution exon 1 BGMUT_231 M27819.1(SLC4A1):c.2550delG BGMUT deletion exon 1 BGMUT_232 M27819.1(SLC4A1):c.2102G>A BGMUT substitution exon 1 BGMUT_233 M27819.1(SLC4A1):c.1972G>A BGMUT substitution exon 1 BGMUT_234 M27819.1(SLC4A1):c.1669G>A BGMUT substitution exon 1 BGMUT_235 M27819.1(SLC4A1):c.1643C>T BGMUT substitution exon 1 BGMUT_236 M27819.1(SLC4A1):c.1654A>C BGMUT substitution exon 1 BGMUT_237 M27819.1(SLC4A1):c.1294C>T BGMUT substitution exon 1 BGMUT_238 M27819.1(SLC4A1):c.1694G>C BGMUT substitution exon 1 BGMUT_239 M27819.1(SLC4A1):c.1707C>A BGMUT substitution exon 1 BGMUT_24 AF134412.1(ABO):c.[98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 98+539C>A; 155+575C>T; 203+1678T>C; 239+336G>A; 373+784G>A] BGMUT substitution intron 1 BGMUT_240 M27819.1(SLC4A1):c.1967G>A BGMUT substitution exon 1 BGMUT_241 M27819.1(SLC4A1):c.1966C>T BGMUT substitution exon 1 BGMUT_242 M27819.1(SLC4A1):c.1663T>C BGMUT substitution exon 1 BGMUT_243 M27819.1(SLC4A1):c.1937G>A BGMUT substitution exon 1 BGMUT_244 M27819.1(SLC4A1):c.1936C>T BGMUT substitution exon 1 BGMUT_245 M27819.1(SLC4A1):c.1681C>T BGMUT substitution exon 1 BGMUT_246 M27819.1(SLC4A1):c.[1287A>T; 1681C>G] BGMUT substitution exon 1 BGMUT_247 M27819.1(SLC4A1):c.1696C>T BGMUT substitution exon 1 BGMUT_248 M27819.1(SLC4A1):c.1696C>G BGMUT substitution exon 1 BGMUT_249 M27819.1(SLC4A1):c.1653G>C BGMUT substitution exon 1 BGMUT_25 AF134412.1(ABO):c.[98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 98+539C>A; 155+575C>T; 203+102C>A; 203+1678T>C; 239+336G>A; 373+784G>A] BGMUT substitution intron 1 BGMUT_250 M27819.1(SLC4A1):c.1438G>A BGMUT substitution exon 1 BGMUT_251 U01839.1(DARC):c.125A>G BGMUT substitution exon 1 BGMUT_253 U01839.1(DARC):c.-33T>C BGMUT substitution exon 1 BGMUT_254 U01839.1(DARC):c.298G>A BGMUT substitution exon 1 BGMUT_255 U01839.1(DARC):c.[265C>T; 298G>A] BGMUT substitution exon 1 BGMUT_256 U01839.1(DARC):c.[145G>T; 265C>T; 298G>A] BGMUT substitution exon 1 BGMUT_257 U01839.1(DARC):c.281_295del BGMUT deletion exon 1 BGMUT_258 U01839.1(DARC):c.293G>A BGMUT substitution exon 1 BGMUT_259 U01839.1(DARC):c.413G>A BGMUT substitution exon 1 BGMUT_26 AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 220C>T; 261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_260 U01839.1(DARC):c.413G>A BGMUT substitution exon 1 BGMUT_261 U01839.1(DARC):c.414G>A BGMUT substitution exon 1 BGMUT_263 M36284.1(GYPC):c.50_106del BGMUT deletion not within known transcription unit 0 BGMUT_264 M36284.1(GYPC):c.107_190del BGMUT deletion not within known transcription unit 0 BGMUT_266 M36284.1(GYPC):c.[131G>T; 134delC] BGMUT complex exon 1 BGMUT_267 M36284.1(GYPC):c.23A>G BGMUT substitution exon 1 BGMUT_269 M36284.1(GYPC):c.67G>T BGMUT substitution exon 1 BGMUT_27 AF134412.1(ABO):c.[98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 155+1357C>T; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G;..] BGMUT complex intron 1 BGMUT_270 M36284.1(GYPC):c.40C>T BGMUT substitution exon 1 BGMUT_272 AB001325.1(AQP3):c.710+1G>A BGMUT substitution intron 1 BGMUT_274 M35531.1(FUT1):c.349C>T BGMUT substitution exon 1 BGMUT_275 M35531.1(FUT1):c.442G>T BGMUT substitution exon 1 BGMUT_276 M35531.1(FUT1):c.[460T>C; 1042G>A] BGMUT substitution exon 1 BGMUT_277 M35531.1(FUT1):c.460T>C BGMUT substitution exon 1 BGMUT_278 M35531.1(FUT1):c.461A>G BGMUT substitution exon 1 BGMUT_279 M35531.1(FUT1):c.462C>A BGMUT substitution exon 1 BGMUT_28 AF134412.1(ABO):c.[53G>T; 220C>T; 297A>G; 526C>G; 802G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_280 M35531.1(FUT1):c.491T>A BGMUT substitution exon 1 BGMUT_281 M35531.1(FUT1):c.513G>C BGMUT substitution exon 1 BGMUT_282 M35531.1(FUT1):c.522C>A BGMUT substitution exon 1 BGMUT_283 M35531.1(FUT1):c.547delAG BGMUT deletion exon 1 BGMUT_284 M35531.1(FUT1):c.658C>T BGMUT substitution exon 1 BGMUT_285 M35531.1(FUT1):c.695G>A BGMUT substitution exon 1 BGMUT_286 M35531.1(FUT1):c.721T>C BGMUT substitution exon 1 BGMUT_287 M35531.1(FUT1):c.725T>G BGMUT substitution exon 1 BGMUT_288 M35531.1(FUT1):c.776T>A BGMUT substitution exon 1 BGMUT_289 M35531.1(FUT1):c.[785G>A; 786C>A] BGMUT substitution exon 1 BGMUT_290 M35531.1(FUT1):c.801G>C BGMUT substitution exon 1 BGMUT_291 M35531.1(FUT1):c.801G>T BGMUT substitution exon 1 BGMUT_292 M35531.1(FUT1):c.826C>T BGMUT substitution exon 1 BGMUT_293 M35531.1(FUT1):c.832G>A BGMUT substitution exon 1 BGMUT_294 M35531.1(FUT1):c.880delTT BGMUT deletion exon 1 BGMUT_295 M35531.1(FUT1):c.522C>A BGMUT substitution exon 1 BGMUT_296 M35531.1(FUT1):c.904_906insAAC BGMUT insertion exon 1 BGMUT_297 M35531.1(FUT1):c.944C>T BGMUT substitution exon 1 BGMUT_299 M35531.1(FUT1):c.990delG BGMUT deletion exon 1 BGMUT_30 AF134412.1(ABO):c.[261delG #insertion in reference#; 579T>C] BGMUT complex exon 1 BGMUT_300 M35531.1(FUT1):c.1047G>C BGMUT substitution exon 1 BGMUT_302 U17894.1(FUT2):c.428G>A BGMUT substitution exon 1 BGMUT_303 U17894.1(FUT2):c.715_716del BGMUT deletion exon 1 BGMUT_304 U17894.1(FUT2):c.357C>T BGMUT substitution exon 1 BGMUT_308 U17894.1(FUT2):c.571C>T BGMUT substitution exon 1 BGMUT_309 U17894.1(FUT2):c.628C>T BGMUT substitution exon 1 BGMUT_31 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G] BGMUT complex not within known transcription unit 1 BGMUT_310 U17894.1(FUT2):c.658C>T BGMUT substitution exon 1 BGMUT_311 U17894.1(FUT2):c.685delGT BGMUT deletion exon 1 BGMUT_312 U17894.1(FUT2):c.849G>A BGMUT substitution exon 1 BGMUT_313 U17894.1(FUT2):c.40A>G BGMUT substitution exon 1 BGMUT_314 U17894.1(FUT2):c.481G>A BGMUT substitution exon 1 BGMUT_315 U17894.1(FUT2):c.[40A>G; 481G>A] BGMUT substitution exon 1 BGMUT_316 U17894.1(FUT2):c.357C>T BGMUT substitution exon 1 BGMUT_317 U17894.1(FUT2):c.[357C>T; 480C>T] BGMUT substitution exon 1 BGMUT_318 U17894.1(FUT2):c.[357C>T; 379C>T; 480C>T] BGMUT substitution exon 1 BGMUT_319 U17894.1(FUT2):c.375A>G BGMUT substitution exon 1 BGMUT_32 AF134412.1(ABO):c.[261delG #insertion in reference#; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_320 U17894.1(FUT2):c.[357C>T; 480C>T; 778delC] BGMUT complex exon 1 BGMUT_321 U17894.1(FUT2):c.385A>T BGMUT substitution exon 1 BGMUT_322 U17894.1(FUT2):c.[357C>T; 385A>T] BGMUT substitution exon 1 BGMUT_323 U17894.1(FUT2):c.400G>A BGMUT substitution exon 1 BGMUT_324 U17894.1(FUT2):c.[171A>G; 216C>T; 428G>A; 739G>A; 960A>G] BGMUT substitution exon 1 BGMUT_325 U17894.1(FUT2):c.[357C>T; 571C>T] BGMUT substitution exon 1 BGMUT_326 U17894.1(FUT2):c.[375A>G; 664C>T] BGMUT substitution exon 1 BGMUT_327 U17894.1(FUT2):c.[400G>A; 760G>A] BGMUT substitution exon 1 BGMUT_328 U17894.1(FUT2):c.[357C>T; 868G>A] BGMUT substitution exon 1 BGMUT_329 U17894.1(FUT2):c.[357C>T; 385A>T] BGMUT substitution exon 1 BGMUT_33 AF134412.1(ABO):c.[98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T;..] BGMUT complex intron 1 BGMUT_330 U17894.1(FUT2):c.688_690delGTC BGMUT deletion exon 1 BGMUT_332 L31860.1(GYPA):c.[59C>T; 71G>A; 72T>G] BGMUT substitution exon 1 BGMUT_334 J02982.1(GYPB):c.143C>T BGMUT substitution exon 1 BGMUT_337 L31860.1(GYPA):c.232G>A BGMUT substitution exon 1 BGMUT_338 L31860.1(GYPA):c.250G>C BGMUT substitution exon 1 BGMUT_34 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 721C>T; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_35 AF134412.1(ABO):c.[467C>T; 804_805insG; 1061delC] BGMUT complex exon 1 BGMUT_359 J02982.1(GYPB):c.161G>A BGMUT substitution exon 1 BGMUT_36 AF134412.1(ABO):c.[261delG #insertion in reference#; 318C>T; 467C>T] BGMUT complex exon 1 BGMUT_361 L31860.1(GYPA):c.230C>T BGMUT substitution exon 1 BGMUT_362 J02982.1(GYPB):c.65C>G BGMUT substitution exon 1 BGMUT_363 L31860.1(GYPA):c.138T>A BGMUT substitution exon 1 BGMUT_364 L31860.1(GYPA):c.217C>T BGMUT substitution exon 1 BGMUT_365 J02982.1(GYPB):c.173C>G BGMUT substitution exon 1 BGMUT_37 AF134412.1(ABO):c.[261delG #insertion in reference#; 657C>T] BGMUT complex exon 1 BGMUT_373 L31860.1(GYPA):c.197C>A BGMUT substitution exon 1 BGMUT_375 AF458026.1(IGnT C):c.505G>A BGMUT substitution exon 1 BGMUT_376 AF458026.1(IGnT C):c.683G>A BGMUT substitution exon 1 BGMUT_377 AF458026.1(IGnT C):c.816G>C BGMUT substitution exon 1 BGMUT_379 NM_001491.2(IGnT):c.1043G>A BGMUT substitution exon 1 BGMUT_38 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 542G>A; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_380 NM_001491.2(IGnT):c.1148G>A BGMUT substitution exon 1 BGMUT_382 NM_001491.2(IGnT):c.978G>A BGMUT substitution exon 1 BGMUT_383 M59040.1(CD44):c.[137G>C; 207T>C; 255T>C; 326A>C; 716G>A] BGMUT substitution exon 1 BGMUT_387 L36121.1(SLC14A1):c.838G>A BGMUT substitution exon 1 BGMUT_388 L36121.1(SLC14A1):c.342-1G>A BGMUT substitution intron 1 BGMUT_389 L36121.1(SLC14A1):c.663+1G>T BGMUT substitution intron 1 BGMUT_39 AF134412.1(ABO):c.[373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT substitution intron 1 BGMUT_390 L36121.1(SLC14A1):c.871T>C BGMUT substitution exon 1 BGMUT_391 L36121.1(SLC14A1):c.1_341del BGMUT deletion not within known transcription unit 0 BGMUT_392 L36121.1(SLC14A1):c.582C>G BGMUT substitution exon 1 BGMUT_393 L36121.1(SLC14A1):c.1_341del BGMUT deletion not within known transcription unit 0 BGMUT_395 M64934.2(KEL):c.578C>T BGMUT substitution exon 1 BGMUT_396 M64934.2(KEL):c.578C>G BGMUT substitution exon 1 BGMUT_397 M64934.2(KEL):c.577A>T BGMUT substitution exon 1 BGMUT_398 M64934.2(KEL):c.841C>T BGMUT substitution exon 1 BGMUT_399 M64934.2(KEL):c.842G>A BGMUT substitution exon 1 BGMUT_4 AF134412.1(ABO):c.467C>T BGMUT substitution exon 1 BGMUT_40 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 595C>T; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_400 M64934.2(KEL):c.[1790T>C; 1899A>G] BGMUT substitution exon 1 BGMUT_401 M64934.2(KEL):c.1481A>T BGMUT substitution exon 1 BGMUT_402 M64934.2(KEL):c.905T>C BGMUT substitution exon 1 BGMUT_403 M64934.2(KEL):c.1145A>G BGMUT substitution exon 1 BGMUT_404 M64934.2(KEL):c.539G>C BGMUT substitution exon 1 BGMUT_405 M64934.2(KEL):c.1643A>G BGMUT substitution exon 1 BGMUT_406 M64934.2(KEL):c.[388C>T; 389G>A] BGMUT substitution exon 1 BGMUT_407 M64934.2(KEL):c.1475G>A BGMUT substitution exon 1 BGMUT_408 M64934.2(KEL):c.965C>T BGMUT substitution exon 1 BGMUT_409 M64934.2(KEL):c.743G>A BGMUT substitution exon 1 BGMUT_41 AF134412.1(ABO):c.[155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A;..] BGMUT complex intron 1 BGMUT_410 M64934.2(KEL):c.742C>T BGMUT substitution exon 1 BGMUT_411 M64934.2(KEL):c.1217G>A BGMUT substitution exon 1 BGMUT_412 M64934.2(KEL):c.745G>A BGMUT substitution exon 1 BGMUT_413 M64934.2(KEL):c.1268C>T BGMUT substitution exon 1 BGMUT_415 M64934.2(KEL):c.[1088G>A; 2030A>G] BGMUT substitution exon 1 BGMUT_416 M64934.2(KEL):c.[986T>C; 1596G>A] BGMUT substitution exon 1 BGMUT_417 M64934.2(KEL):c.[2107G>A; 1719C>T] BGMUT substitution exon 1 BGMUT_418 M64934.2(KEL):c.223+1G>C BGMUT substitution intron 1 BGMUT_419 M64934.2(KEL):c.382C>T BGMUT substitution exon 1 BGMUT_42 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_420 M64934.2(KEL):c.246T>A BGMUT substitution exon 1 BGMUT_421 M64934.2(KEL):c.1042C>T BGMUT substitution exon 1 BGMUT_422 M64934.2(KEL):c.2027G>A BGMUT substitution exon 1 BGMUT_423 M64934.2(KEL):c.223+1G>A BGMUT substitution intron 1 BGMUT_424 M64934.2(KEL):c.1088G>A BGMUT substitution exon 1 BGMUT_425 M64934.2(KEL):c.[574C>T; 1088G>A] BGMUT substitution exon 1 BGMUT_426 M64934.2(KEL):c.1377G>A BGMUT substitution exon 1 BGMUT_427 M64934.2(KEL):c.526-2A>G BGMUT substitution intron 1 BGMUT_428 M64934.2(KEL):c.1420C>T BGMUT substitution exon 1 BGMUT_429 M64934.2(KEL):c.903delG BGMUT deletion exon 1 BGMUT_43 AF134412.1(ABO):c.[467C>T; 893C>T] BGMUT substitution exon 1 BGMUT_431 Y00816.1(CR1):c.4681G>A BGMUT substitution exon 1 BGMUT_433 Y00816.1(CR1):c.4768A>G BGMUT substitution exon 1 BGMUT_435 Y00816.1(CR1):c.4801A>G BGMUT substitution exon 1 BGMUT_437 Y00816.1(CR1):c.4828T>A BGMUT substitution exon 1 BGMUT_439 Y00816.1(CR1):c.[1333A>G #insertion in reference#; 2051T>C; 3066G>T; 3623A>G; 4843A>G; 5480C>G] BGMUT substitution exon 1 BGMUT_44 AF134412.1(ABO):c.927C>A BGMUT substitution exon 1 BGMUT_444 Y00816.1(CR1):c.180G>A BGMUT substitution exon 1 BGMUT_445 Y00816.1(CR1):c.954T>C BGMUT substitution exon 1 BGMUT_446 Y00816.1(CR1):c.1329A>G BGMUT substitution exon 1 BGMUT_447 Y00816.1(CR1):c.1333G>A #insertion in reference# BGMUT substitution exon 1 BGMUT_448 Y00816.1(CR1):c.2051T>C BGMUT substitution exon 1 BGMUT_449 Y00816.1(CR1):c.2340T>C BGMUT substitution exon 1 BGMUT_45 AF134412.1(ABO):c.[261delG #insertion in reference#; 373+784G>A; 373+1019C>T] BGMUT complex not within known transcription unit 1 BGMUT_450 Y00816.1(CR1):c.3066G>T BGMUT substitution exon 1 BGMUT_451 Y00816.1(CR1):c.3623A>G BGMUT substitution exon 1 BGMUT_452 Y00816.1(CR1):c.4014A>C BGMUT substitution exon 1 BGMUT_453 Y00816.1(CR1):c.4145G>C BGMUT substitution exon 1 BGMUT_454 Y00816.1(CR1):c.4223C>T BGMUT substitution exon 1 BGMUT_455 Y00816.1(CR1):c.4843A>G BGMUT substitution exon 1 BGMUT_456 Y00816.1(CR1):c.5397A>G BGMUT substitution exon 1 BGMUT_457 Y00816.1(CR1):c.5480C>G BGMUT substitution exon 1 BGMUT_458 Y00816.1(CR1):c.5548C>G BGMUT substitution exon 1 BGMUT_459 Y00816.1(CR1):c.5627C>T BGMUT substitution exon 1 BGMUT_46 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G] BGMUT complex not within known transcription unit 1 BGMUT_461 X53578.1(FUT3):c.[47G>C; 508G>A] BGMUT substitution exon 1 BGMUT_462 X53578.1(FUT3):c.[47G>C; 202T>C; 314C>T] BGMUT substitution exon 1 BGMUT_463 X53578.1(FUT3):c.59T>G BGMUT substitution exon 1 BGMUT_464 X53578.1(FUT3):c.1067T>A BGMUT substitution exon 1 BGMUT_465 X53578.1(FUT3):c.[59T>G; 508G>A] BGMUT substitution exon 1 BGMUT_466 X53578.1(FUT3):c.[59T>G; 1067T>A] BGMUT substitution exon 1 BGMUT_467 X53578.1(FUT3):c.[202T>C; 314C>T] BGMUT substitution exon 1 BGMUT_468 X53578.1(FUT3):c.[202T>C; 1067T>A] BGMUT substitution exon 1 BGMUT_469 X53578.1(FUT3):c.[59T>G; 445C>A] BGMUT substitution exon 1 BGMUT_47 AF134412.1(ABO):c.[261delG #insertion in reference#; 646T>A; 681G>A; 771C>T; 829G>A; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_470 X53578.1(FUT3):c.[202T>C; 314C>T; 484G>A] BGMUT substitution exon 1 BGMUT_471 X53578.1(FUT3):c.[484G>A; 667G>A] BGMUT substitution exon 1 BGMUT_472 X53578.1(FUT3):c.[484G>A; 667G>A; 808G>A] BGMUT substitution exon 1 BGMUT_473 X53578.1(FUT3):c.760G>A BGMUT substitution exon 1 BGMUT_474 X53578.1(FUT3):c.304C>A BGMUT substitution exon 1 BGMUT_475 X53578.1(FUT3):c.370T>G BGMUT substitution exon 1 BGMUT_477 M98825.1(FUT6):c.[370C>T; 730C>G; 907C>G] BGMUT substitution exon 1 BGMUT_478 M98825.1(FUT6):c.[370C>T; 907C>G] BGMUT substitution exon 1 BGMUT_479 M98825.1(FUT6):c.[370C>T; 739G>A] BGMUT substitution exon 1 BGMUT_48 AF134412.1(ABO):c.[646T>A; 681G>A; 771C>T; 829G>A; 373+1011A>G; 373+1013G>A] BGMUT substitution not within known transcription unit 1 BGMUT_480 M98825.1(FUT6):c.[739G>A; 945C>A] BGMUT substitution exon 1 BGMUT_482 M98825.1(FUT6):c.63G>A BGMUT substitution exon 1 BGMUT_483 M98825.1(FUT6):c.[63G>A; 172G>A; 376C>T] BGMUT substitution exon 1 BGMUT_484 M98825.1(FUT6):c.[63G>A; 172G>A; 376C>T; 527G>T] BGMUT substitution exon 1 BGMUT_485 M98825.1(FUT6):c.729T>C BGMUT substitution exon 1 BGMUT_486 M98825.1(FUT6):c.[738C>T; 977G>A] BGMUT substitution exon 1 BGMUT_487 M98825.1(FUT6):c.1002C>G BGMUT substitution exon 1 BGMUT_488 M98825.1(FUT6):c.[370C>T; 1002C>G] BGMUT substitution exon 1 BGMUT_489 M98825.1(FUT6):c.[370C>T; 907C>G; 1002C>G] BGMUT substitution exon 1 BGMUT_49 AF134412.1(ABO):c.[297A>G; 646T>A; 681G>A; 771C>T; 829G>A; 373+42G>T; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT substitution not within known transcription unit 1 BGMUT_490 M98825.1(FUT6):c.[879C>T; 971C>T; 1002C>G] BGMUT substitution exon 1 BGMUT_491 M98825.1(FUT6):c.[855G>A; 1002C>G] BGMUT substitution exon 1 BGMUT_492 M98825.1(FUT6):c.[370C>T; 739G>A; 1002C>G] BGMUT substitution exon 1 BGMUT_493 M98825.1(FUT6):c.[370C>T; 739G>A; 945C>A; 1002C>G] BGMUT substitution exon 1 BGMUT_494 M98825.1(FUT6):c.[18G>A; 336C>A; 499_501insC; 855G>A; 1002C>G] BGMUT complex exon 1 BGMUT_495 M98825.1(FUT6):c.[18G>A; 336C>A; 499_501insC; 855G>A; 977G>A; 1002C>G] BGMUT complex exon 1 BGMUT_497 U11282.1(FUT7):c.329G>A BGMUT substitution exon 1 BGMUT_498 X83425.1(LU):c.230G>A BGMUT substitution exon 1 BGMUT_499 X83425.1(LU):c.1615G>A BGMUT substitution exon 1 BGMUT_5 AF134412.1(ABO):c.[467C>T; 564C>T] BGMUT substitution exon 1 BGMUT_50 AF134412.1(ABO):c.[88_89insG; 261delG #insertion in reference#; 467C>T] BGMUT complex exon 1 BGMUT_502 X83425.1(LU):c.524G>A BGMUT substitution exon 1 BGMUT_503 X83425.1(LU):c.326G>A BGMUT substitution exon 1 BGMUT_504 X83425.1(LU):c.824C>T BGMUT substitution exon 1 BGMUT_505 X83425.1(LU):c.1878C>T BGMUT substitution exon 1 BGMUT_506 X83425.1(LU):c.611T>A BGMUT substitution exon 1 BGMUT_507 X83425.1(LU):c.99_104delGCGCTT BGMUT deletion exon 1 BGMUT_508 X83425.1(LU):c.419G>A BGMUT substitution exon 1 BGMUT_509 X83425.1(LU):c.[1340C>T; 1671C>T; 1742A>T] BGMUT substitution exon 1 BGMUT_51 AF134412.1(ABO):c.373+784G>A BGMUT substitution intron 1 BGMUT_510 X83425.1(LU):c.679C>T BGMUT substitution exon 1 BGMUT_511 X83425.1(LU):c.[340G>A; 1971C>T] BGMUT substitution exon 1 BGMUT_512 X83425.1(LU):c.905C>T BGMUT substitution exon 1 BGMUT_513 X83425.1(LU):c.282C>G BGMUT substitution exon 1 BGMUT_514 X83425.1(LU):c.711C>A BGMUT substitution exon 1 BGMUT_516 S78852.1(ICAM4):c.299A>G BGMUT substitution exon 1 BGMUT_517 S78852.1(ICAM4):c.346_355del10 BGMUT deletion exon 1 BGMUT_519 L10240.1(BSG):c.370C>T BGMUT substitution exon 1 BGMUT_52 AF134412.1(ABO):c.[261delG #insertion in reference#; 467C>T; 1061delC] BGMUT complex exon 1 BGMUT_520 L10240.1(BSG):c.274G>A BGMUT substitution exon 1 BGMUT_521 L10240.1(BSG):c.[176G>T; 195C>T; 234C>G] BGMUT substitution exon 1 BGMUT_522 L10240.1(BSG):c.327T>C BGMUT substitution exon 1 BGMUT_524 AJ245581.1(A4GALT):c.68_69insT BGMUT insertion exon 1 BGMUT_525 AJ245581.1(A4GALT):c.237_239delCTT BGMUT deletion exon 1 BGMUT_526 AJ245581.1(A4GALT):c.241_243delTTC BGMUT deletion exon 1 BGMUT_527 AJ245581.1(A4GALT):c.287G>A BGMUT substitution exon 1 BGMUT_528 AJ245581.1(A4GALT):c.[290C>T; 109A>G; 987G>A] BGMUT substitution exon 1 BGMUT_529 AJ245581.1(A4GALT):c.300_301delG BGMUT deletion exon 1 BGMUT_53 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 646T>A; 771C>T; 829G>A; 1054C>T] BGMUT complex exon 1 BGMUT_530 AJ245581.1(A4GALT):c.[470_497ins; 907G>C] BGMUT complex exon 1 BGMUT_531 AJ245581.1(A4GALT):c.473G>A BGMUT substitution exon 1 BGMUT_532 AJ245581.1(A4GALT):c.[502_504insC; 914C>T] BGMUT complex exon 1 BGMUT_533 AJ245581.1(A4GALT):c.548T>A BGMUT substitution exon 1 BGMUT_534 AJ245581.1(A4GALT):c.[548T>A; 987G>A] BGMUT substitution exon 1 BGMUT_535 AJ245581.1(A4GALT):c.560G>A BGMUT substitution exon 1 BGMUT_536 AJ245581.1(A4GALT):c.656C>T BGMUT substitution exon 1 BGMUT_537 AJ245581.1(A4GALT):c.657delG BGMUT deletion exon 1 BGMUT_538 AJ245581.1(A4GALT):c.[732_733insG; 903C>G] BGMUT complex exon 1 BGMUT_539 AJ245581.1(A4GALT):c.751C>T BGMUT substitution exon 1 BGMUT_54 AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 220C>T; 261delG #insertion in reference#; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1096G>A] BGMUT complex exon 1 BGMUT_540 AJ245581.1(A4GALT):c.752C>T BGMUT substitution exon 1 BGMUT_541 AJ245581.1(A4GALT):c.[752C>T; 903C>G] BGMUT substitution exon 1 BGMUT_542 AJ245581.1(A4GALT):c.[109A>G; 903C>G; 987G>A] BGMUT substitution exon 1 BGMUT_543 AJ245581.1(A4GALT):c.972_997del BGMUT deletion exon 1 BGMUT_544 AJ245581.1(A4GALT):c.[972_997del; 109A>G; 903C>G] BGMUT complex exon 1 BGMUT_545 AJ245581.1(A4GALT):c.[769delG; 903C>G] BGMUT complex exon 1 BGMUT_546 AJ245581.1(A4GALT):c.783G>A BGMUT substitution exon 1 BGMUT_547 AJ245581.1(A4GALT):c.900_902delC BGMUT deletion exon 1 BGMUT_548 AJ245581.1(A4GALT):c.1026_1029insC BGMUT insertion exon 1 BGMUT_549 AJ245581.1(A4GALT):c.-550_-549insC BGMUT insertion not within known transcription unit 1 BGMUT_55 AF134412.1(ABO):c.[261delG #insertion in reference#; 454T>C] BGMUT complex exon 1 BGMUT_550 AJ245581.1(A4GALT):c.-160A>G BGMUT substitution not within known transcription unit 1 BGMUT_552 AB050855.1(B3GALT3):c.202C>T BGMUT substitution exon 1 BGMUT_553 AB050855.1(B3GALT3):c.292_293insA BGMUT insertion exon 1 BGMUT_554 AB050855.1(B3GALT3):c.433C>T BGMUT substitution exon 1 BGMUT_555 AB050855.1(B3GALT3):c.537_538insA BGMUT insertion exon 1 BGMUT_556 AB050855.1(B3GALT3):c.648A>C BGMUT substitution exon 1 BGMUT_557 AB050855.1(B3GALT3):c.797A>C BGMUT substitution exon 1 BGMUT_558 AB050855.1(B3GALT3):c.811G>A BGMUT substitution exon 1 BGMUT_559 AB050855.1(B3GALT3):c.959G>A BGMUT substitution exon 1 BGMUT_56 AF134412.1(ABO):c.[261delG #insertion in reference#; 768C>A] BGMUT complex exon 1 BGMUT_563 L08429.1(RHD):c.1060G>A BGMUT substitution exon 1 BGMUT_564 L08429.1(RHD):c.[455A>C; 602C>G; 667T>G] BGMUT substitution exon 1 BGMUT_567 L08429.1(RHD):c.[186G>T; 410C>T; 455A>C] BGMUT substitution exon 1 BGMUT_568 L08429.1(RHD):c.[186G>T; 410C>T; 455A>C; 602C>G; 667T>G; 819G>A] BGMUT substitution exon 1 BGMUT_570 L08429.1(RHD):c.[186G>T; 455A>C; 1048G>C] BGMUT substitution exon 1 BGMUT_573 L08429.1(RHD):c.[667T>G; 697G>C] BGMUT substitution exon 1 BGMUT_575 L08429.1(RHD):c.[667T>G; 697G>C; 712G>A; 1273G>C] BGMUT substitution exon 1 BGMUT_576 L08429.1(RHD):c.697G>A BGMUT substitution exon 1 BGMUT_58 AF134412.1(ABO):c.[261delG #insertion in reference#; 318C>T; 467C>T; 729C>T] BGMUT complex exon 1 BGMUT_580 L08429.1(RHD):c.329T>C BGMUT substitution exon 1 BGMUT_581 L08429.1(RHD):c.[307T>C; 329T>C] BGMUT substitution exon 1 BGMUT_582 L08429.1(RHD):c.[602C>G; 667T>G; 1025T>C] BGMUT substitution exon 1 BGMUT_583 L08429.1(RHD):c.[505A>C; 509T>G; 514A>T] BGMUT substitution exon 1 BGMUT_587 L08429.1(RHD):c.848C>T BGMUT substitution exon 1 BGMUT_588 L08429.1(RHD):c.854G>A BGMUT substitution exon 1 BGMUT_589 L08429.1(RHD):c.1057G>A BGMUT substitution exon 1 BGMUT_59 AF134412.1(ABO):c.[261delG #insertion in reference#; 926A>G] BGMUT complex exon 1 BGMUT_590 L08429.1(RHD):c.497A>C BGMUT substitution exon 1 BGMUT_591 L08429.1(RHD):c.1063G>A BGMUT substitution exon 1 BGMUT_592 L08429.1(RHD):c.621G>C BGMUT substitution exon 1 BGMUT_593 L08429.1(RHD):c.1073T>C BGMUT substitution exon 1 BGMUT_594 L08429.1(RHD):c.680T>C BGMUT substitution exon 1 BGMUT_595 L08429.1(RHD):c.851C>T BGMUT substitution exon 1 BGMUT_596 L08429.1(RHD):c.384T>C BGMUT substitution exon 1 BGMUT_598 L08429.1(RHD):c.8C>G BGMUT substitution exon 1 BGMUT_599 L08429.1(RHD):c.29G>A BGMUT substitution exon 1 BGMUT_6 AF134412.1(ABO):c.297A>G BGMUT substitution exon 1 BGMUT_60 AF134412.1(ABO):c.[261delG #insertion in reference#; 318C>T; 373+784G>A] BGMUT complex not within known transcription unit 1 BGMUT_600 L08429.1(RHD):c.446C>A BGMUT substitution exon 1 BGMUT_601 L08429.1(RHD):c.658T>C BGMUT substitution exon 1 BGMUT_602 L08429.1(RHD):c.809T>G BGMUT substitution exon 1 BGMUT_603 L08429.1(RHD):c.826G>C BGMUT substitution exon 1 BGMUT_604 L08429.1(RHD):c.830G>A BGMUT substitution exon 1 BGMUT_605 L08429.1(RHD):c.845G>A BGMUT substitution exon 1 BGMUT_606 L08429.1(RHD):c.880G>C BGMUT substitution exon 1 BGMUT_607 L08429.1(RHD):c.885G>T BGMUT substitution exon 1 BGMUT_608 L08429.1(RHD):c.919G>A BGMUT substitution exon 1 BGMUT_609 L08429.1(RHD):c.1016G>A BGMUT substitution exon 1 BGMUT_61 AF134412.1(ABO):c.[261delG #insertion in reference#; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_610 L08429.1(RHD):c.1154G>A BGMUT substitution exon 1 BGMUT_611 L08429.1(RHD):c.1177T>C BGMUT substitution exon 1 BGMUT_612 L08429.1(RHD):c.[602C>G; 667T>G] BGMUT substitution exon 1 BGMUT_613 L08429.1(RHD):c.[602C>G; 667T>G; 149-29C>G; 149-256_149-255insG; 1227+55A>G] BGMUT complex not within known transcription unit 1 BGMUT_614 L08429.1(RHD):c.[48G>C; 602C>G; 667T>G; 819G>A] BGMUT substitution exon 1 BGMUT_615 L08429.1(RHD):c.[602C>G; 667T>G; 957G>A; 1025T>C] BGMUT substitution exon 1 BGMUT_616 L08429.1(RHD):c.[602C>G; 667T>G; 744C>T; 957G>A; 1025T>C] BGMUT substitution exon 1 BGMUT_617 L08429.1(RHD):c.340C>T BGMUT substitution exon 1 BGMUT_618 L08429.1(RHD):c.[178A>T; 203G>A; 594A>T; 667T>G; 1025T>G; 149-29C>G; 149-256_149-255insG; 335+36A>G] BGMUT complex not within known transcription unit 1 BGMUT_619 L08429.1(RHD):c.[544T>A; 594A>T; 602C>G] BGMUT substitution exon 1 BGMUT_62 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 529G>A; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_620 L08429.1(RHD):c.634G>T BGMUT substitution exon 1 BGMUT_621 L08429.1(RHD):c.1013T>C BGMUT substitution exon 1 BGMUT_622 L08429.1(RHD):c.26T>A BGMUT substitution exon 1 BGMUT_623 L08429.1(RHD):c.399G>T BGMUT substitution exon 1 BGMUT_624 L08429.1(RHD):c.833G>A BGMUT substitution exon 1 BGMUT_625 L08429.1(RHD):c.1015G>A BGMUT substitution exon 1 BGMUT_626 L08429.1(RHD):c.520G>A BGMUT substitution exon 1 BGMUT_627 L08429.1(RHD):c.809T>A BGMUT substitution exon 1 BGMUT_628 L08429.1(RHD):c.1136C>T BGMUT substitution exon 1 BGMUT_629 L08429.1(RHD):c.[579G>A; 1136C>T] BGMUT substitution exon 1 BGMUT_63 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 538C>T; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G;..] BGMUT complex not within known transcription unit 1 BGMUT_630 L08429.1(RHD):c.[689G>T; 1136C>T] BGMUT substitution exon 1 BGMUT_631 L08429.1(RHD):c.[209G>A; 998G>A; 1136C>T] BGMUT substitution exon 1 BGMUT_632 L08429.1(RHD):c.[835G>A; 1136C>T] BGMUT substitution exon 1 BGMUT_633 L08429.1(RHD):c.[697G>A; 1136C>T] BGMUT substitution exon 1 BGMUT_637 L08429.1(RHD):c.121C>T BGMUT substitution exon 1 BGMUT_639 L08429.1(RHD):c.600delG BGMUT deletion exon 1 BGMUT_64 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 498C>T; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G;..] BGMUT complex not within known transcription unit 1 BGMUT_645 L08429.1(RHD):c.47G>A BGMUT substitution exon 1 BGMUT_646 L08429.1(RHD):c.635G>T BGMUT substitution exon 1 BGMUT_647 L08429.1(RHD):c.1153+1G>A BGMUT substitution intron 1 BGMUT_648 L08429.1(RHD):c.269G>A BGMUT substitution exon 1 BGMUT_65 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 351G>A; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G;..] BGMUT complex not within known transcription unit 1 BGMUT_650 L08429.1(RHD):c.[906_907insGGCT; 939+2T>A] BGMUT complex not within known transcription unit 1 BGMUT_651 L08429.1(RHD):c.933C>A BGMUT substitution exon 1 BGMUT_652 L08429.1(RHD):c.335+1G>A BGMUT substitution intron 1 BGMUT_653 L08429.1(RHD):c.554G>A BGMUT substitution exon 1 BGMUT_657 L08429.1(RHD):c.1222T>C BGMUT substitution exon 1 BGMUT_658 L08429.1(RHD):c.486+1G>A BGMUT substitution intron 1 BGMUT_659 L08429.1(RHD):c.885G>T BGMUT substitution exon 1 BGMUT_66 AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 220C>T; 261delG #insertion in reference#; 297A>G; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_660 L08429.1(RHD):c.[1227+1G>A; 1227+1227G>A] BGMUT substitution intron 1 BGMUT_661 L08429.1(RHD):c.801+38delCTCT BGMUT deletion intron 1 BGMUT_662 L08429.1(RHD):c.1252_1253insT BGMUT insertion exon 1 BGMUT_663 L08429.1(RHD):c.1203T>A BGMUT substitution exon 1 BGMUT_668 DQ322275.1(RHCE):c.500T>A BGMUT substitution exon 1 BGMUT_67 AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 220C>T; 261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 829G>A] BGMUT complex exon 1 BGMUT_671 DQ322275.1(RHCE):c.[697C>G; 712A>G] BGMUT substitution exon 1 BGMUT_673 DQ322275.1(RHCE):c.733C>G BGMUT substitution exon 1 BGMUT_674 DQ322275.1(RHCE):c.106G>A BGMUT substitution exon 1 BGMUT_675 DQ322275.1(RHCE):c.602G>C BGMUT substitution exon 1 BGMUT_676 DQ322275.1(RHCE):c.461G>C BGMUT substitution exon 1 BGMUT_677 DQ322275.1(RHCE):c.122A>G BGMUT substitution exon 1 BGMUT_678 DQ322275.1(RHce):c.286G>A BGMUT substitution exon 1 BGMUT_68 AF134412.1(ABO):c.[220C>T; 261delG #insertion in reference#; 297A>G; 681G>A; 771C>T; 829G>A; 98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG;..] BGMUT complex not within known transcription unit 1 BGMUT_680 DQ322275.1(RHCE):c.[48G>C; 712A>G; 733C>G; 787A>G; 800T>A; 916A>G] BGMUT substitution exon 1 BGMUT_681 DQ322275.1(RHCE):c.[48G>C; 667G>T] BGMUT substitution exon 1 BGMUT_69 AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 829G>A; 98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T;..] BGMUT complex not within known transcription unit 1 BGMUT_691 DQ322275.1(RHCE):c.685_687delAGA BGMUT deletion exon 1 BGMUT_696 DQ322275.1(RHCE):c.350_358del BGMUT deletion exon 1 BGMUT_698 DQ322275.1(RHCE):c.634+1G>T BGMUT substitution intron 1 BGMUT_699 DQ322275.1(RHCE):c.80_84del BGMUT deletion exon 1 BGMUT_7 AF134412.1(ABO):c.[467C>T; 373+163T>C; 373+179C>T] BGMUT substitution not within known transcription unit 1 BGMUT_70 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 373+163T>C; 373+179C>T; 373+271A>G; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT complex not within known transcription unit 1 BGMUT_702 X64594.1(RHAG):c.236G>A BGMUT substitution exon 1 BGMUT_703 X64594.1(RHAG):c.3G>T BGMUT substitution exon 1 BGMUT_704 X64594.1(RHAG):c.1183delA BGMUT deletion exon 1 BGMUT_705 X64594.1(RHAG):c.836G>A BGMUT substitution exon 1 BGMUT_706 X64594.1(RHAG):c.[808G>A; 838G>A] BGMUT substitution exon 1 BGMUT_707 X64594.1(RHAG):c.946-1G>A BGMUT substitution intron 1 BGMUT_709 X64594.1(RHAG):c.157+1G>A BGMUT substitution intron 1 BGMUT_71 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 373+89T>A; 373+163T>C; 373+180-187dupGTGGGCTC; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A;..] BGMUT complex not within known transcription unit 1 BGMUT_710 X64594.1(RHAG):c.1067+1G>A BGMUT substitution intron 1 BGMUT_711 X64594.1(RHAG):c.1139G>T BGMUT substitution exon 1 BGMUT_712 DQ322275.1(RHCE):c.[48G>C; 150C>T; 178C>A; 201A>G; 203A>G; 307C>T] BGMUT substitution exon 1 BGMUT_713 DQ322275.1(RHCE):c.[48G>C; 150C>T; 178C>A; 201A>G; 203A>G; 307C>T; 676G>C] BGMUT substitution exon 1 BGMUT_714 DQ322275.1(RHCE):c.676G>C BGMUT substitution exon 1 BGMUT_72 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 646T>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+192G>A; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_724 Z32684.2(XK):c.508+5G>A BGMUT substitution intron 1 BGMUT_725 Z32684.2(XK):c.268delT BGMUT deletion exon 1 BGMUT_726 Z32684.2(XK):c.245+1G>C BGMUT substitution intron 1 BGMUT_73 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 646T>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+180-187dupGTGGGCTC; 373+188G>A; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_735 Z32684.2(XK):c.686_687delTT BGMUT deletion exon 1 BGMUT_736 Z32684.2(XK):c.771delG BGMUT deletion exon 1 BGMUT_737 Z32684.2(XK):c.856_860delCTCTA BGMUT deletion exon 1 BGMUT_738 Z32684.2(XK):c.938_951del BGMUT deletion exon 1 BGMUT_74 AF134412.1(ABO):c.[261delG #insertion in reference#; 646T>A; 771C>T; 373+89T>A; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_740 Z32684.2(XK):c.1013delT BGMUT deletion exon 1 BGMUT_742 Z32684.2(XK):c.245+1G>C BGMUT substitution intron 1 BGMUT_743 Z32684.2(XK):c.107G>A BGMUT substitution exon 1 BGMUT_744 Z32684.2(XK):c.397C>T BGMUT substitution exon 1 BGMUT_745 Z32684.2(XK):c.463C>T BGMUT substitution exon 1 BGMUT_746 Z32684.2(XK):c.707G>A BGMUT substitution exon 1 BGMUT_747 Z32684.2(XK):c.880T>C BGMUT substitution exon 1 BGMUT_748 Z32684.2(XK):c.895C>T BGMUT substitution exon 1 BGMUT_749 Z32684.2(XK):c.664C>G BGMUT substitution exon 1 BGMUT_75 AF134412.1(ABO):c.[261delG #insertion in reference#; 646T>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+180-187dupGTGGGCTC; 373+188G>A; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_750 Z32684.2(XK):c.941G>A BGMUT substitution exon 1 BGMUT_751 Z32684.2(XK):c.979G>A BGMUT substitution exon 1 BGMUT_752 Z32684.2(XK):c.391del1 BGMUT deletion exon 1 BGMUT_754 AY049028.1(ERMAP):c.169G>A BGMUT substitution exon 1 BGMUT_755 AY049028.1(ERMAP):c.[54C>T; 76C>T; 307_309del] BGMUT complex exon 1 BGMUT_756 AY049028.1(ERMAP):c.178C>G BGMUT substitution exon 1 BGMUT_757 AY049028.1(ERMAP):c.139G>A BGMUT substitution exon 1 BGMUT_759 BT007397.1(CD151):c.383_384insG BGMUT insertion exon 1 BGMUT_76 AF134412.1(ABO):c.[261delG #insertion in reference#; 373+163T>C; 373+188G>A; 373+268T>G; 373+446A>G; 373+582C>T; 373+786A>G; 373+788G>A; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT complex not within known transcription unit 1 BGMUT_760 BT007397.1(CD151):c.533G>A BGMUT substitution exon 1 BGMUT_762 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 98+362C>T; 98+369C>G; 98+396T>C; 155+41G>A; 155+199C>T; 155+377C>T; 155+399G>A; 155+969T>C; 155+1170C>T; 155+1254C>T; 155+1357C>T; 203+1delG; 203+28G>C; 203+74A>T;..] BGMUT complex not within known transcription unit 1 BGMUT_764 AF134412.1(ABO):c.[467C>T; 1061delC; 98+362C>T; 98+369C>G; 98+396T>C; 155+41G>A; 155+199C>T; 155+377C>T; 155+399G>A; 155+969T>C; 155+1254C>T; 155+1357C>T; 203+1delG; 203+28G>C; 203+74A>T; 203+215A>G; 203+216A>C; 203+673A>T;..] BGMUT complex not within known transcription unit 1 BGMUT_765 M35531.1(FUT1):c.293C>T BGMUT substitution exon 1 BGMUT_766 AF134412.1(ABO):c.[467C>T; 539G>A; 1061delC] BGMUT complex exon 1 BGMUT_77 AF134412.1(ABO):c.[53G>T; 220C>T; 297A>G; 526C>G; 649C>T; 689G>A; 802G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_771 AF134412.1(ABO):c.[467C>T; 539G>C] BGMUT substitution exon 1 BGMUT_772 M35531.1(FUT1):c.682A>G BGMUT substitution exon 1 BGMUT_773 L08429.1(RHD):c.636C>T BGMUT substitution exon 1 BGMUT_774 L08429.1(RHD):c.[667T>G; 697G>C; 1136C>T] BGMUT substitution exon 1 BGMUT_775 L08429.1(RHD):c.700A>T BGMUT substitution exon 1 BGMUT_776 L08429.1(RHD):c.733G>C BGMUT substitution exon 1 BGMUT_777 DQ322275.1(RHCE):c.365C>T BGMUT substitution exon 1 BGMUT_778 AF134412.1(ABO gene):c.784G>A BGMUT substitution exon 1 BGMUT_779 L08429.1(RHD):c.[998G>A; 1136C>T] BGMUT substitution exon 1 BGMUT_78 AF134412.1(ABO):c.[53G>T; 220C>T; 297A>G; 526C>G; 689G>A; 802G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_781 L08429.1(RHD):c.[667T>G; 674C>T] BGMUT substitution exon 1 BGMUT_782 L08429.1(RHD):c.1226A>T BGMUT substitution exon 1 BGMUT_783 L08429.1(RHD):c.[52C>G; 809T>G] BGMUT substitution exon 1 BGMUT_784 L08429.1(RHD):c.17C>T BGMUT substitution exon 1 BGMUT_785 L08429.1(RHD):c.1121T>A BGMUT substitution exon 1 BGMUT_786 AF134412.1(ABO):c.[425T>C; 467C>T] BGMUT substitution exon 1 BGMUT_79 AF134412.1(ABO):c.[53G>T; 220C>T; 297A>G; 488C>T; 526C>G; 802G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_790 AY159319.1(C1GALT1C1):c.[202C>T; 393T>A] BGMUT substitution exon 1 BGMUT_791 AY159319.1(C1GALT1C1):c.454G>A BGMUT substitution exon 1 BGMUT_792 AY159319.1(C1GALT1C1):c.393T>A BGMUT substitution exon 1 BGMUT_794 AF134412.1(ABO):c.[297A>G; 526C>G; 640A>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_795 AF134412.1(ABO):c.[297A>G; 526C>G; 641T>C; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 1096G>A] BGMUT substitution exon 1 BGMUT_797 AF134412.1(ABO):c.[467C>T; 543G>T] BGMUT substitution exon 1 BGMUT_798 AJ245581.1(A4GALT):c.[-550_-549insC; -160A>G; 987G>A; 1697G>A] BGMUT complex not within known transcription unit 1 BGMUT_799 AJ245581.1(A4GALT):c.[109A>G; 987G>A] BGMUT substitution exon 1 BGMUT_8 AF134412.1(ABO):c.[297A>G; 467C>T; 373+42G>T; 373+163C>t; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+786A>G] BGMUT complex not within known transcription unit 1 BGMUT_80 AF134412.1(ABO):c.88_89insG BGMUT insertion exon 1 BGMUT_800 AJ245581.1(A4GALT):c.[109A>G; 987G>A; 1697G>A] BGMUT substitution exon 1 BGMUT_801 U17894.1(FUT2):c.[357C>T; 716G>A] BGMUT substitution exon 1 BGMUT_802 M35531.1(FUT1):c.328G>A BGMUT substitution exon 1 BGMUT_803 M35531.1(FUT1):c.586C>T BGMUT substitution exon 1 BGMUT_805 M35531.1(FUT1):c.35C>T BGMUT substitution exon 1 BGMUT_806 AY049028.1(ERMAP):c.[54C>T; 76C>T; 103G>A] BGMUT substitution exon 1 BGMUT_807 AY049028.1(ERMAP):c.994C>T BGMUT substitution exon 1 BGMUT_808 AY049028.1(ERMAP):c.242G>A BGMUT substitution exon 1 BGMUT_809 AY049028.1(ERMAP):c.[994C>T; 1514C>T] BGMUT substitution exon 1 BGMUT_81 AF134412.1(ABO):c.322C>T BGMUT substitution exon 1 BGMUT_810 AF134412.1(ABO):c.[523G>A; 721C>T] BGMUT substitution exon 1 BGMUT_812 U17894.1(FUT2):c.[357C>T; 685G>A] BGMUT substitution exon 1 BGMUT_813 U17894.1(FUT2):c.400G>A BGMUT substitution exon 1 BGMUT_815 DQ322275.1(RHCE):c.48G>C BGMUT substitution exon 1 BGMUT_816 AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 502C>T; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_817 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 695T>C; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_818 AF134412.1(ABO):c.[467C>T; 829G>A; 1009A>G] BGMUT substitution exon 1 BGMUT_819 AF134412.1(ABO):c.[261delG #insertion in reference#; 496delA] BGMUT deletion exon 1 BGMUT_82 AF134412.1(ABO):c.542G>A BGMUT substitution exon 1 BGMUT_820 AF134412.1(ABO):c.[467C>T; 527G>A; 1061delC] BGMUT complex exon 1 BGMUT_821 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>A; 892G>T; 930G>A] BGMUT substitution exon 1 BGMUT_822 AF134412.1(ABO):c.[297A>G; 498C>T; 526C>G; 657C>T; 703G>A; 796C>A; 803G>A; 930G>A] BGMUT substitution exon 1 BGMUT_823 AF134412.1(ABO):c.[297A>G; 523G>A; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_824 AF134412.1(ABO):c.[297A>G; 306C>T; 526C>G; 657C>T; 703G>A; 796C>A; 803G>A; 930G>A] BGMUT substitution exon 1 BGMUT_825 AF134412.1(ABO):c.[467C>T; 556A>G] BGMUT substitution exon 1 BGMUT_826 AF134412.1(ABO):c.[278C>T; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_827 AF134412.1(ABO):c.[261delG #insertion in reference#; 802G>A] BGMUT complex exon 1 BGMUT_828 AF134412.1(ABO):c.2T>C BGMUT substitution exon 1 BGMUT_829 AJ245581.1(A4GALT):c.[-773C>G; -770C>G; -638A>C; -550_-549insC; -212C>G; -164C>T; -160A>G] BGMUT complex not within known transcription unit 1 BGMUT_83 AF134412.1(ABO):c.871G>A BGMUT substitution exon 1 BGMUT_832 L08429.1(RHD):c.667T>G BGMUT substitution exon 1 BGMUT_833 L08429.1(RHD):c.[410C>T; 455A>C; 602C>G; 667T>G; 819G>A] BGMUT substitution exon 1 BGMUT_835 L08429.1(RHD):c.[602C>G; 667T>G; 697G>C; 957G>A; 1025T>C] BGMUT substitution exon 1 BGMUT_836 DQ322275.1(RHCE):c.[48G>C; 105C>T; 365C>T] BGMUT substitution exon 1 BGMUT_837 AF134412.1(ABO):c.[467C>T; 681G>A; 771C>T; 829G>A] BGMUT substitution exon 1 BGMUT_838 AF134412.1(ABO):c.[261delC #insertion in reference#; 297A>G; 646T>A; 681G>A; 687C>T; 771C>T; 829G>A] BGMUT complex exon 1 BGMUT_839 AF134412.1(ABO):c.[261delC #insertion in reference#; 297A>G; 1116G>A] BGMUT complex exon 1 BGMUT_84 AF134412.1(ABO):c.[829G>A; 1061delC] BGMUT complex exon 1 BGMUT_840 AF134412.1(ABO):c.[297A>G; 425T>C; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_841 M36284.1(GYPC):c.95C>A BGMUT substitution exon 1 BGMUT_842 AF134412.1(ABO):c.[297A>G; 526C>G; 547G>A; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_845 AF290204.1(DO):c.[378C>T; 624T>C; 793A>G; 898C>G] BGMUT substitution exon 1 BGMUT_847 M35531.1(FUT1):c.661C>T BGMUT substitution exon 1 BGMUT_848 DQ322275.1(RHce):c.[48G>C; 538G>C] BGMUT substitution exon 1 BGMUT_85 AF134412.1(ABO):c.838C>T BGMUT substitution exon 1 BGMUT_851 M64934.2(KEL):c.1868G>A BGMUT substitution exon 1 BGMUT_852 M64934.2(KEL):c.913G>A BGMUT substitution exon 1 BGMUT_853 L08429.1(RHD):c.611T>C BGMUT substitution exon 1 BGMUT_854 L08429.1(RHD):c.1250T>C BGMUT substitution exon 1 BGMUT_855 DQ322275.1(RHCE):c.[48G>C; 697C>G; 733C>G] BGMUT substitution exon 1 BGMUT_859 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 930G>A] BGMUT substitution exon 1 BGMUT_86 AF134412.1(ABO):c.646T>A BGMUT substitution exon 1 BGMUT_860 L08429.1(RHD):c.3G>A BGMUT substitution exon 1 BGMUT_861 L08429.1(RHD):c.28C>T BGMUT substitution exon 1 BGMUT_862 L08429.1(RHD):c.53T>C BGMUT substitution exon 1 BGMUT_863 L08429.1(RHD):c.251T>C BGMUT substitution exon 1 BGMUT_864 AF458026.1(IGnT C):c.243T>A BGMUT substitution exon 1 BGMUT_865 M35531.1(FUT1):c.[538C>T; 1089T>G] BGMUT substitution exon 1 BGMUT_866 M35531.1(FUT1):c.689A>C BGMUT substitution exon 1 BGMUT_867 M64934.2(KEL):c.1899A>G BGMUT substitution exon 1 BGMUT_868 L08429.1(RHD):c.684_686delGAG BGMUT deletion exon 1 BGMUT_869 L08429.1(RHD):c.705_707delGAA BGMUT deletion exon 1 BGMUT_87 AF134412.1(ABO):c.[297A>G; 646T>A; 681G>A; 771C>T; 829G>A] BGMUT substitution exon 1 BGMUT_870 DQ322275.1(RHce):c.685_687delAGA BGMUT deletion exon 1 BGMUT_871 M35531.1(FUT1):c.917C>T BGMUT substitution exon 1 BGMUT_872 M35531.1(FUT1):c.[35C>T; 269G>T] BGMUT substitution exon 1 BGMUT_873 U17894.1(FUT2):c.[278C>T; 357C>T] BGMUT substitution exon 1 BGMUT_874 M35531.1(FUT1):c.422G>A BGMUT substitution exon 1 BGMUT_875 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 952G>A] BGMUT substitution exon 1 BGMUT_876 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 930G>A] BGMUT substitution exon 1 BGMUT_879 AY885237.1(SEMA7A):c.620G>A BGMUT substitution exon 1 BGMUT_88 AF134412.1(ABO):c.[646T>A; 681G>A; 771C>T; 829G>A] BGMUT substitution exon 1 BGMUT_880 AY885237.1(SEMA7A):c.1379G>A BGMUT substitution exon 1 BGMUT_881 AY885237.1(SEMA7A):c.1381C>T BGMUT substitution exon 1 BGMUT_883 AY885237.1(SEMA7A):c.[619C>T; 1545A>G] BGMUT substitution exon 1 BGMUT_884 Y00816.1(CR1):c.4619A>G BGMUT substitution exon 1 BGMUT_885 AY885237.1(SEMA7A):c.507C>T BGMUT substitution exon 1 BGMUT_886 AY885237.1(SEMA7A):c.1059C>T BGMUT substitution exon 1 BGMUT_887 AY885237.1(SEMA7A):c.1239C>T BGMUT substitution exon 1 BGMUT_888 L08429.1(RHD):c.[594A>T; 602C>G] BGMUT substitution exon 1 BGMUT_889 L08429.1(RHD):c.92T>C BGMUT substitution exon 1 BGMUT_89 AF134412.1(ABO):c.[646T>A; 681G>A] BGMUT substitution exon 1 BGMUT_890 L08429.1(RHD):c.740T>G BGMUT substitution exon 1 BGMUT_891 L08429.1(RHD):c.[667T>G; 676G>C; 697G>C; 712G>A; 733G>C; 744C>T; 787G>A; 800A>T] BGMUT substitution exon 1 BGMUT_892 L08429.1(RHD):c.[667T>G; 676G>C; 697G>C; 712G>A; 733G>C; 744C>T] BGMUT substitution exon 1 BGMUT_894 X83425.1(LU):c.361C>T BGMUT substitution exon 1 BGMUT_895 X83425.1(LU):c.691C>T BGMUT substitution exon 1 BGMUT_896 L08429.1(RHD):c.325delA BGMUT deletion exon 1 BGMUT_898 DQ322275.1(RHCE):c.[48G>C; 733C>G] BGMUT substitution exon 1 BGMUT_899 M64934.2(KEL):c.924+1G>T BGMUT substitution intron 1 BGMUT_9 AF134412.1(ABO):c.[467C>T; 1061delC] BGMUT complex exon 1 BGMUT_900 M64934.2(KEL):c.924+1G>A BGMUT substitution intron 1 BGMUT_901 M64934.2(KEL):c.948G>A BGMUT substitution exon 1 BGMUT_902 M64934.2(KEL):c.1216C>T BGMUT substitution exon 1 BGMUT_903 M64934.2(KEL):c.1477C>T BGMUT substitution exon 1 BGMUT_904 M64934.2(KEL):c.1546C>T BGMUT substitution exon 1 BGMUT_905 M64934.2(KEL):c.1678C>G BGMUT substitution exon 1 BGMUT_906 M64934.2(KEL):c.2023C>T BGMUT substitution exon 1 BGMUT_907 M64934.2(KEL):c.986T>C BGMUT substitution exon 1 BGMUT_908 M64934.2(KEL):c.[306C>A; 1298C>T] BGMUT substitution exon 1 BGMUT_909 M64934.2(KEL):c.1763A>G BGMUT substitution exon 1 BGMUT_910 M64934.2(KEL):c.841C>T BGMUT substitution exon 1 BGMUT_911 AF134412.1(ABO):c.[467C>T; 699C>A] BGMUT substitution exon 1 BGMUT_912 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 802G>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_913 AF134412.1(ABO):c.[297A>G; 526C>G; 565A>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_914 AF134412.1(ABO):c.[297A>G; 526C>G; 575T>C; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_915 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 784G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_916 AF134412.1(ABO):c.[297A>G; 526C>G; 646T>A; 681G>A; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_917 AF134412.1(ABO):c.[297A>G; 523G>A; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_919 L08429.1(RHD):c.494A>G BGMUT substitution exon 1 BGMUT_92 AF134412.1(ABO):c.996G>A BGMUT substitution exon 1 BGMUT_920 L08429.1(RHD):c.1148T>C BGMUT substitution exon 1 BGMUT_922 L08429.1(RHD):c.1219_1224delTTCTGG BGMUT deletion exon 1 BGMUT_924 L08429.1(RHD):c.640C>T BGMUT substitution exon 1 BGMUT_925 L08429.1(RHD):c.677C>A BGMUT substitution exon 1 BGMUT_926 L08429.1(RHD):c.1006G>C BGMUT substitution exon 1 BGMUT_927 L08429.1(RHD):c.65C>A BGMUT substitution exon 1 BGMUT_928 L08429.1(RHD):c.284A>G BGMUT substitution exon 1 BGMUT_929 L08429.1(RHD):c.330_331delGT BGMUT deletion exon 1 BGMUT_93 AF134412.1(ABO):c.[646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT substitution not within known transcription unit 1 BGMUT_930 L08429.1(RHD):c.[667T>G; 697G>C; 1136C>T; 1177T>C] BGMUT substitution exon 1 BGMUT_932 AF134412.1(ABO):c.820G>A BGMUT substitution exon 1 BGMUT_933 AF134412.1(ABO):c.[467C>T; 820G>A] BGMUT substitution exon 1 BGMUT_934 AF134412.1(ABO):c.[467C>T; 745C>T] BGMUT substitution exon 1 BGMUT_935 AF134412.1(ABO):c.[467C>T; 860C>T] BGMUT substitution exon 1 BGMUT_936 M27819.1(SLC4A1):c.2191T>C BGMUT substitution exon 1 BGMUT_937 M27819.1(SLC4A1):c.[166A>G; 1249C>T; 2201A>G] BGMUT substitution exon 1 BGMUT_938 M27819.1(SLC4A1):c.2113G>T BGMUT substitution exon 1 BGMUT_939 M27819.1(SLC4A1):c.2201A>G BGMUT substitution exon 1 BGMUT_94 AF134412.1(ABO):c.[407C>T; 467C>T; 1061delC] BGMUT complex exon 1 BGMUT_940 M27819.1(SLC4A1):c.2060T>C BGMUT substitution exon 1 BGMUT_941 AF134412.1(ABO):c.[87_88insGG; 203+560G>T] BGMUT complex not within known transcription unit 1 BGMUT_942 AF290204.1(DO):c.[185T>C; 378C>T; 624T>C; 793A>G] BGMUT substitution exon 1 BGMUT_943 M31516.1(DAF):c.466G>A BGMUT substitution exon 1 BGMUT_944 M31516.1(DAF):c.740A>G BGMUT substitution exon 1 BGMUT_945 U17894.1(FUT2):c.[210A>G; 357C>T] BGMUT substitution exon 1 BGMUT_946 U17894.1(FUT2):c.[357C>T; 380G>A; 385A>T] BGMUT substitution exon 1 BGMUT_947 U17894.1(FUT2):c.853G>A BGMUT substitution exon 1 BGMUT_948 U17894.1(FUT2):c.[357C>T; 855A>C] BGMUT substitution exon 1 BGMUT_949 U17894.1(FUT2):c.[171A>G; 216C>T; 428G>A; 572G>A; 739G>A; 960A>G; 1009A>G; 1011T>C] BGMUT substitution exon 1 BGMUT_95 AF134412.1(ABO):c.[350G>C; 467C>T; 1061delC] BGMUT complex exon 1 BGMUT_950 U17894.1(FUT2):c.[357C>T; 748_750insGTG] BGMUT complex exon 1 BGMUT_951 M59040.1(CD44):c.488C>A BGMUT substitution exon 1 BGMUT_953 L08429.1(RHD):c.[505A>C; 509T>G; 514A>T; 560T>A; 577G>A; 594A>T; 602C>G] BGMUT substitution exon 1 BGMUT_959 L08429.1(RHD):c.[667T>G; 676G>C] BGMUT substitution exon 1 BGMUT_96 AF134412.1(ABO):c.[203G>C; 467C>T; 1061delC] BGMUT complex exon 1 BGMUT_960 L08429.1(RHD):c.676G>C BGMUT substitution exon 1 BGMUT_961 AF134412.1(ABO):c.[297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 816_817insG] BGMUT complex exon 1 BGMUT_962 AF134412.1(ABO):c.[268T>C; 467C>T] BGMUT substitution exon 1 BGMUT_963 AF134412.1(ABO):c.[266C>T; 467C>T] BGMUT substitution exon 1 BGMUT_964 AF134412.1(ABO):c.[297A>G; 410C>T; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A] BGMUT substitution exon 1 BGMUT_97 AF134412.1(ABO):c.721C>T BGMUT substitution exon 1 BGMUT_98 AF134412.1(ABO):c.965A>G BGMUT substitution exon 1 BGMUT_99 AF134412.1(ABO):c.502C>G BGMUT substitution exon 1 CFMDB_911 CFTR:c.869+11C>T CFMDB substitution intron 1 CFMDB_912 CFTR:c.869+12C>T CFMDB substitution intron 1 CFMDB_1386 CFTR:c.869+3A>T CFMDB substitution intron 1 CFMDB_161 CFTR:c.870-3T>G CFMDB substitution intron 1 CFMDB_913 CFTR:c.870-56C>G CFMDB substitution intron 1 CFMDB_1387 CFTR:g.60131_60133delTTT CFMDB deletion intron 1 CFMDB_162 CFTR:g.60149_60150delAA CFMDB deletion exon 1 CFMDB_712 CFTR:c.-234T>A CFMDB substitution not within known transcription unit 1 CFMDB_1011 CFTR:c.915C>T CFMDB substitution exon 1 CFMDB_167 CFTR:c.926delC CFMDB deletion exon 1 CFMDB_172 CFTR:c.946delT CFMDB deletion exon 1 CFMDB_1551 CFTR:c.-26G>A CFMDB substitution 5' UTR 1 CFMDB_1367 CFTR:c.954G>A CFMDB substitution exon 1 CFMDB_1173 CFTR:c.960A>G CFMDB substitution exon 1 CFMDB_746 CFTR:c.966G>A CFMDB substitution exon 1 CFMDB_871 CFTR:c.972C>G CFMDB substitution exon 1 CFMDB_825 CFTR:c.980delT CFMDB deletion exon 1 CFMDB_178 CFTR:c.987delA CFMDB deletion exon 1 CFMDB_182 CFTR:c.1006_1007insG CFMDB insertion exon 1 CFMDB_185 CFTR:c.1018delA CFMDB deletion exon 1 CFMDB_1371 CFTR:c.1019_1020ins12 CFMDB insertion exon 1 CFMDB_186 CFTR:c.1022_1023insTC CFMDB insertion exon 1 CFMDB_187 CFTR:c.1029delC CFMDB deletion exon 1 CFMDB_188 CFTR:c.1029_1030insG CFMDB insertion exon 1 CFMDB_1554 CFTR:c.1032T>A CFMDB substitution exon 1 CFMDB_1395 CFTR:g.60321_60322delTC CFMDB deletion exon 1 CFMDB_657 CFTR:c.1067delG CFMDB deletion exon 1 CFMDB_1522 CFTR:g.120_142del23 CFMDB deletion not within known transcription unit 1 CFMDB_198 CFTR:c.1081delT CFMDB deletion exon 1 CFMDB_200 CFTR:c.1083delG CFMDB deletion exon 1 CFMDB_201 CFTR:g.60357_60358delCT CFMDB deletion exon 1 CFMDB_203 CFTR:c.1111_1112ins6 CFMDB insertion exon 1 CFMDB_914 CFTR:c.1116+17C>T CFMDB substitution intron 1 CFMDB_204 CFTR:c.1116+1G>A CFMDB substitution intron 1 CFMDB_1303 CFTR:c.1116+1G>C CFMDB substitution intron 1 CFMDB_592 CFTR:c.1116+52T>C CFMDB substitution intron 1 CFMDB_883 CFTR:g.62027_62028delTA CFMDB deletion intron 1 CFMDB_586 CFTR:g.62024_62025delAT CFMDB deletion intron 1 CFMDB_1611 CFTR:c.1117-31A>G CFMDB substitution intron 1 CFMDB_205 CFTR:c.1117-5A>G CFMDB substitution intron 1 CFMDB_915 CFTR:c.1117-82C>T CFMDB substitution intron 1 CFMDB_1365 CFTR:g.124_146del23 CFMDB deletion exon 1 CFMDB_588 CFTR:c.1127_1128insA CFMDB insertion exon 1 CFMDB_902 CFTR:c.-8G>C CFMDB substitution 5' UTR 1 CFMDB_207 CFTR:c.1151delA CFMDB deletion exon 1 CFMDB_1362 CFTR:c.1156_1157insTA CFMDB insertion exon 1 CFMDB_1269 CFTR:g.62096_62097delTT CFMDB deletion exon 1 CFMDB_695 CFTR:g.62099_62105del7 CFMDB deletion exon 1 CFMDB_209 CFTR:c.1164G>T CFMDB substitution exon 1 CFMDB_955 CFTR:c.-4G>C CFMDB substitution 5' UTR 1 CFMDB_604 CFTR:c.1177delG CFMDB deletion exon 1 CFMDB_1000 CFTR:c.1191_1192insA CFMDB insertion exon 1 CFMDB_212 CFTR:c.1209+18A>C CFMDB substitution intron 1 CFMDB_618 CFTR:c.1209+1G>A CFMDB substitution intron 1 CFMDB_1451 CFTR:c.1209+28C>T CFMDB substitution intron 1 CFMDB_980 CFTR:c.1209+28C>T CFMDB substitution intron 1 CFMDB_1639 CFTR:c.1209+6A>G CFMDB substitution intron 1 CFMDB_1627 CFTR:c.1209+6A>G CFMDB substitution intron 1 CFMDB_1509 CFTR:c.1209+80G>A CFMDB substitution intron 1 CFMDB_1041 CFTR:c.1209G>A CFMDB substitution exon 1 CFMDB_213 CFTR:c.1210-11_1210-9delinsG CFMDB complex intron 1 CFMDB_919 CFTR:c.1210-13G>T CFMDB substitution intron 1 CFMDB_873 CFTR:c.1210-1G>C CFMDB substitution intron 1 CFMDB_214 CFTR:c.1210-2A>C CFMDB substitution intron 1 CFMDB_215 CFTR:g.68677_68678delAG CFMDB deletion intron 1 CFMDB_1328 CFTR:g.135_254delins300 CFMDB complex exon 1 CFMDB_752 CFTR:c.1234delG CFMDB deletion exon 1 CFMDB_985 CFTR:g.68704_68708del5 CFMDB deletion exon 1 CFMDB_1149 CFTR:c.1235delC CFMDB deletion exon 1 CFMDB_1498 CFTR:g.68766_68772del7 CFMDB deletion exon 1 CFMDB_219 CFTR:g.68797_68798delAT CFMDB deletion exon 1 CFMDB_220 CFTR:c.1329_1330ins4 CFMDB insertion exon 1 CFMDB_1568 CFTR:c.1329T>C CFMDB substitution exon 1 CFMDB_1031 CFTR:c.1339delA CFMDB deletion exon 1 CFMDB_1266 CFTR:g.68834_68835delGG CFMDB deletion exon 1 CFMDB_224 CFTR:c.1372delG CFMDB deletion exon 1 CFMDB_1211 CFTR:c.1392+1G>A CFMDB substitution intron 1 CFMDB_1566 CFTR:c.1392+60_1392+61insA CFMDB insertion intron 1 CFMDB_1565 CFTR:c.1392+68G>A CFMDB substitution intron 1 CFMDB_226 CFTR:c.1392+6_1392+7insC CFMDB insertion intron 1 CFMDB_830 CFTR:c.1393-18G>A CFMDB substitution intron 1 CFMDB_227 CFTR:c.1393-1G>A CFMDB substitution intron 1 CFMDB_1304 CFTR:c.1393-2A>G CFMDB substitution intron 1 CFMDB_1510 CFTR:c.1393-42G>A CFMDB substitution intron 1 CFMDB_921 CFTR:c.1393-60G>A CFMDB substitution intron 1 CFMDB_920 CFTR:c.1393-61A>G CFMDB substitution intron 1 CFMDB_751 CFTR:c.1399C>T CFMDB substitution exon 1 CFMDB_978 CFTR:g.79517_79526del10 CFMDB deletion exon 1 CFMDB_692 CFTR:c.1416delG CFMDB deletion exon 1 CFMDB_1574 CFTR:c.1433delCA CFMDB deletion exon 1 CFMDB_876 CFTR:c.24G>A CFMDB substitution exon 1 CFMDB_233 CFTR:c.1439delG CFMDB deletion exon 1 CFMDB_1164 CFTR:c.1444_1445insT CFMDB insertion exon 1 CFMDB_238 CFTR:g.79586_79587delCA CFMDB deletion exon 1 CFMDB_240 CFTR:g.79589_79590delTT CFMDB deletion exon 1 CFMDB_733 CFTR:c.31G>A CFMDB substitution exon 1 CFMDB_869 CFTR:c.1518C>G CFMDB substitution exon 1 CFMDB_1023 CFTR:c.1519A>G CFMDB substitution exon 1 CFMDB_1462 CFTR:c.1521C>T CFMDB substitution exon 1 CFMDB_1610 CFTR:c.1528delG CFMDB deletion exon 1 CFMDB_247 CFTR:g.79654_79655delTA CFMDB deletion exon 1 CFMDB_1206 CFTR:c.1561A>C CFMDB substitution exon 1 CFMDB_252 CFTR:g.79683_79699del17 CFMDB deletion exon 1 CFMDB_1025 CFTR:c.1581A>G CFMDB substitution exon 1 CFMDB_922 CFTR:c.1584+12T>C CFMDB substitution intron 1 CFMDB_923 CFTR:c.1584+13G>T CFMDB substitution intron 1 CFMDB_641 CFTR:c.1584+1G>A CFMDB substitution intron 1 CFMDB_1590 CFTR:c.1584+1G>T CFMDB substitution intron 1 CFMDB_662 CFTR:c.1584+2T>C CFMDB substitution intron 1 CFMDB_1591 CFTR:c.1584+4A>T CFMDB substitution intron 1 CFMDB_896 CFTR:c.1584+63_1584+64ins11 CFMDB insertion intron 1 CFMDB_613 CFTR:c.1584+77A>G CFMDB substitution intron 1 CFMDB_1026 CFTR:c.1584G>A CFMDB substitution exon 1 CFMDB_925 CFTR:c.1585-19T>C CFMDB substitution intron 1 CFMDB_255 CFTR:c.1585-1G>A CFMDB substitution intron 1 CFMDB_254 CFTR:c.1585-2A>G CFMDB substitution intron 1 CFMDB_663 CFTR:c.1585-3T>G CFMDB substitution intron 1 CFMDB_253 CFTR:c.1585-8G>A CFMDB substitution intron 1 CFMDB_1022 CFTR:c.1585-9T>A CFMDB substitution intron 1 CFMDB_831 CFTR:g.107802_107803delAC CFMDB deletion exon 1 CFMDB_1128 CFTR:c.1617_1618insTA CFMDB insertion exon 1 CFMDB_630 CFTR:c.42delA CFMDB deletion exon 1 CFMDB_13 CFTR:c.43delC CFMDB deletion exon 1 CFMDB_14 CFTR:c.43_44insT CFMDB insertion exon 1 CFMDB_1150 CFTR:c.1632T>G CFMDB substitution exon 1 CFMDB_1284 CFTR:g.107827_107832del6 CFMDB deletion exon 1 CFMDB_1027 CFTR:c.1641A>T CFMDB substitution exon 1 CFMDB_260 CFTR:g.107834_107835delCT CFMDB deletion exon 1 CFMDB_267 CFTR:c.1650delA CFMDB deletion exon 1 CFMDB_270 CFTR:c.1652delG CFMDB deletion exon 1 CFMDB_664 CFTR:c.1670delC CFMDB deletion exon 1 CFMDB_277 CFTR:c.1674delA CFMDB deletion exon 1 CFMDB_1287 CFTR:c.1679+11A>G CFMDB substitution intron 1 CFMDB_1532 CFTR:c.1679+1650T>A CFMDB substitution intron 1 CFMDB_1519 CFTR:c.1679+16T>C CFMDB substitution intron 1 CFMDB_282 CFTR:c.1679+18G>A CFMDB substitution intron 1 CFMDB_1505 CFTR:c.1679+1G>A CFMDB substitution intron 1 CFMDB_281 CFTR:c.1679+1G>C CFMDB substitution intron 1 CFMDB_1388 CFTR:c.1679+34G>A CFMDB substitution intron 1 CFMDB_1608 CFTR:c.1679+5A>G CFMDB substitution intron 1 CFMDB_926 CFTR:c.1680-108T>C CFMDB substitution intron 1 CFMDB_284 CFTR:c.1680-1G>A CFMDB substitution intron 1 CFMDB_1363 CFTR:c.1680-26T>C CFMDB substitution intron 1 CFMDB_1088 CFTR:c.1680-59T>G CFMDB substitution intron 1 CFMDB_1575 CFTR:c.1680-5T>A CFMDB substitution intron 1 CFMDB_730 CFTR:c.1681_1682insC CFMDB insertion exon 1 CFMDB_15 CFTR:c.50delT CFMDB deletion exon 1 CFMDB_292 CFTR:c.1701delT CFMDB deletion exon 1 CFMDB_893 CFTR:c.53+1G>T CFMDB substitution intron 1 CFMDB_1032 CFTR:c.53+45A>G CFMDB substitution intron 1 CFMDB_16 CFTR:c.53+4A>T CFMDB substitution intron 1 CFMDB_17 CFTR:c.54-13C>G CFMDB substitution intron 1 CFMDB_1175 CFTR:c.1738delG CFMDB deletion exon 1 CFMDB_305 CFTR:c.1739_1742insT CFMDB insertion exon 1 CFMDB_927 CFTR:c.1766+152T>A CFMDB substitution intron 1 CFMDB_309 CFTR:c.1766+1G>A CFMDB substitution intron 1 CFMDB_311 CFTR:c.1766+1G>C CFMDB substitution intron 1 CFMDB_310 CFTR:c.1766+1G>T CFMDB substitution intron 1 CFMDB_1046 CFTR:c.1766+30G>A CFMDB substitution intron 1 CFMDB_312 CFTR:c.1766+3A>C CFMDB substitution intron 1 CFMDB_313 CFTR:c.1766+3A>G CFMDB substitution intron 1 CFMDB_740 CFTR:c.1766+5G>A CFMDB substitution intron 1 CFMDB_314 CFTR:c.1766+5G>T CFMDB substitution intron 1 CFMDB_315 CFTR:c.1766+73T>G CFMDB substitution intron 1 CFMDB_316 CFTR:g.111991_111992delGC CFMDB deletion exon 1 CFMDB_317 CFTR:g.111997_112003del7 CFMDB deletion exon 1 CFMDB_1593 CFTR:c.1800delG CFMDB deletion exon 1 CFMDB_318 CFTR:g.112022_112105del84 CFMDB deletion exon 1 CFMDB_327 CFTR:c.1911delG CFMDB deletion exon 1 CFMDB_969 CFTR:g.112124_112125delTT CFMDB deletion exon 1 CFMDB_328 CFTR:g.112128_112136delinsA CFMDB complex exon 1 CFMDB_824 CFTR:c.1932C>G CFMDB substitution exon 1 CFMDB_981 CFTR:c.1950C>T CFMDB substitution exon 1 CFMDB_1030 CFTR:c.1960A>G CFMDB substitution exon 1 CFMDB_1283 CFTR:c.1973_1985delinsAGAAA CFMDB complex exon 1 CFMDB_1056 CFTR:c.1976delA CFMDB deletion exon 1 CFMDB_330 CFTR:c.1981delA CFMDB deletion exon 1 CFMDB_1093 CFTR:g.112189_112192delCTAA CFMDB deletion exon 1 CFMDB_331 CFTR:g.112191_112194del4 CFMDB deletion exon 1 CFMDB_19 CFTR:c.79delG CFMDB deletion exon 1 CFMDB_334 CFTR:c.2009_2010insA CFMDB insertion exon 1 CFMDB_335 CFTR:c.2011delT CFMDB deletion exon 1 CFMDB_337 CFTR:c.2044_2045insC CFMDB insertion exon 1 CFMDB_338 CFTR:g.[112256A>G(+)112257delA] CFMDB complex exon 1 CFMDB_758 CFTR:g.112256_112257delAA CFMDB deletion exon 1 CFMDB_1437 CFTR:c.2052A>G CFMDB substitution exon 1 CFMDB_339 CFTR:c.2052delA CFMDB deletion exon 1 CFMDB_340 CFTR:c.2052_2053insA CFMDB insertion exon 1 CFMDB_1060 CFTR:c.2053_2054insC CFMDB insertion exon 1 CFMDB_1396 CFTR:c.2061_2062ins4 CFMDB insertion exon 1 CFMDB_1180 CFTR:c.2083_2084insG CFMDB insertion exon 1 CFMDB_1594 CFTR:c.2089_2090insA CFMDB insertion exon 1 CFMDB_766 CFTR:c.2106C>G CFMDB substitution exon 1 CFMDB_1001 CFTR:c.91C>T CFMDB substitution exon 1 CFMDB_1333 CFTR:c.2157_2163delinsGT CFMDB complex exon 1 CFMDB_348 CFTR:c.2175_2176insA CFMDB insertion exon 1 CFMDB_587 CFTR:g.24337_24354del18 CFMDB deletion exon 1 CFMDB_1153 CFTR:c.2203delA CFMDB deletion exon 1 CFMDB_351 CFTR:c.2215delG CFMDB deletion exon 1 CFMDB_352 CFTR:g.112445_112452del8 CFMDB deletion exon 1 CFMDB_715 CFTR:c.2245C>T CFMDB substitution exon 1 CFMDB_24 CFTR:c.105_106insA CFMDB insertion exon 1 CFMDB_1621 CFTR:g.112479_112480delCC CFMDB deletion exon 1 CFMDB_1617 CFTR:c.2280G>A CFMDB substitution exon 1 CFMDB_1390 CFTR:c.2286_2286delinsT CFMDB complex exon 1 CFMDB_25 CFTR:g.24346_24347delAT CFMDB deletion exon 1 CFMDB_354 CFTR:c.2291delG CFMDB deletion exon 1 CFMDB_703 CFTR:g.24349_24350delTA CFMDB deletion exon 1 CFMDB_1207 CFTR:g.112529_112530delAC CFMDB deletion exon 1 CFMDB_1208 CFTR:c.2361_2362ins8 CFMDB insertion exon 1 CFMDB_359 CFTR:c.2390_2391insC CFMDB insertion exon 1 CFMDB_767 CFTR:c.2421A>G CFMDB substitution exon 1 CFMDB_361 CFTR:c.2424_2425insAT CFMDB insertion exon 1 CFMDB_362 CFTR:c.2434_2435insT CFMDB insertion exon 1 CFMDB_1504 CFTR:c.2453delT CFMDB deletion exon 1 CFMDB_365 CFTR:c.2471delT CFMDB deletion exon 1 CFMDB_811 CFTR:c.2490+14G>A CFMDB substitution intron 1 CFMDB_369 CFTR:c.2490+1G>A CFMDB substitution intron 1 CFMDB_1196 CFTR:c.2490+1G>T CFMDB substitution intron 1 CFMDB_849 CFTR:g.112697_112702del6 CFMDB deletion intron 1 CFMDB_1426 CFTR:c.2490+2T>C CFMDB substitution intron 1 CFMDB_1595 CFTR:c.2491-11C>T CFMDB substitution intron 1 CFMDB_1612 CFTR:c.2491-23A>G CFMDB substitution intron 1 CFMDB_1309 CFTR:c.2491-2A>G CFMDB substitution intron 1 CFMDB_1637 CFTR:c.2502delT CFMDB deletion exon 1 CFMDB_837 CFTR:c.2502_2503insT CFMDB insertion exon 1 CFMDB_1002 CFTR:c.131A>T CFMDB substitution exon 1 CFMDB_879 CFTR:c.2508delT CFMDB deletion exon 1 CFMDB_768 CFTR:c.2559T>C CFMDB substitution exon 1 CFMDB_1181 CFTR:c.2562delT CFMDB deletion exon 1 CFMDB_1114 CFTR:c.2562T>C CFMDB substitution exon 1 CFMDB_769 CFTR:c.2562T>G CFMDB substitution exon 1 CFMDB_759 CFTR:c.2571G>A CFMDB substitution exon 1 CFMDB_375 CFTR:c.2579delT CFMDB deletion exon 1 CFMDB_376 CFTR:g.115066_115076del11 CFMDB deletion exon 1 CFMDB_701 CFTR:g.115068_115069delTT CFMDB deletion exon 1 CFMDB_1081 CFTR:c.2600_2601insA CFMDB insertion exon 1 CFMDB_378 CFTR:c.2602G>AT CFMDB substitution exon 1 CFMDB_770 CFTR:c.2604A>G CFMDB substitution exon 1 CFMDB_1596 CFTR:c.2615delC CFMDB deletion exon 1 CFMDB_671 CFTR:c.2619+2T>A CFMDB substitution intron 1 CFMDB_380 CFTR:c.2619+3A>G CFMDB substitution intron 1 CFMDB_379 CFTR:c.2619G>A CFMDB substitution exon 1 CFMDB_929 CFTR:c.2620-15C>G CFMDB substitution intron 1 CFMDB_1358 CFTR:c.2620-17G>A CFMDB substitution intron 1 CFMDB_1017 CFTR:c.2620-1G>C CFMDB substitution intron 1 CFMDB_382 CFTR:c.2620-1G>T CFMDB substitution intron 1 CFMDB_928 CFTR:c.2620-22A>G CFMDB substitution intron 1 CFMDB_381 CFTR:c.2620-26A>G CFMDB substitution intron 1 CFMDB_1432 CFTR:g.132044_141898del9855 CFMDB deletion not within known transcription unit 1 CFMDB_1311 CFTR:c.2620-6T>C CFMDB substitution intron 1 CFMDB_1310 CFTR:c.2620-97C>T CFMDB substitution intron 1 CFMDB_383 CFTR:g.122878_122885del8 CFMDB deletion exon 1 CFMDB_1478 CFTR:g.122899_122914del16 CFMDB deletion intron 1 CFMDB_835 CFTR:c.2657+2_2657+3insA CFMDB insertion intron 1 CFMDB_930 CFTR:c.2657+32T>C CFMDB substitution intron 1 CFMDB_386 CFTR:c.2657+3delG CFMDB deletion intron 1 CFMDB_387 CFTR:c.2657+5G>A CFMDB substitution intron 1 CFMDB_389 CFTR:c.2658-1G>C CFMDB substitution intron 1 CFMDB_390 CFTR:c.2658-1G>T CFMDB substitution intron 1 CFMDB_932 CFTR:c.2658-21G>A CFMDB substitution intron 1 CFMDB_388 CFTR:c.2658-2A>G CFMDB substitution intron 1 CFMDB_699 CFTR:c.147A>G CFMDB substitution exon 1 CFMDB_1620 CFTR:c.2679G>T CFMDB substitution exon 1 CFMDB_1392 CFTR:g.123599_123602delins13 CFMDB complex exon 1 CFMDB_771 CFTR:c.2707T>C CFMDB substitution exon 1 CFMDB_976 CFTR:c.2712A>T CFMDB substitution exon 1 CFMDB_32 CFTR:c.152delA CFMDB deletion exon 1 CFMDB_1095 CFTR:c.2719A>G CFMDB substitution exon 1 CFMDB_842 CFTR:c.2724C>T CFMDB substitution exon 1 CFMDB_772 CFTR:c.2726G>T CFMDB substitution exon 1 CFMDB_1564 CFTR:c.2736G>A CFMDB substitution exon 1 CFMDB_394 CFTR:c.2737_2738insG CFMDB insertion exon 1 CFMDB_713 CFTR:c.2764_2765insAG CFMDB insertion exon 1 CFMDB_773 CFTR:c.2769C>T CFMDB substitution exon 1 CFMDB_399 CFTR:g.123687_123688delTT CFMDB deletion exon 1 CFMDB_400 CFTR:c.2777delT CFMDB deletion exon 1 CFMDB_1171 CFTR:c.2808A>G CFMDB substitution exon 1 CFMDB_1067 CFTR:c.2810_2811insT CFMDB insertion exon 1 CFMDB_1018 CFTR:c.2816_2817delinsC CFMDB complex exon 1 CFMDB_690 CFTR:c.163_164ins8 CFMDB insertion exon 1 CFMDB_35 CFTR:c.164+12T>C CFMDB substitution intron 1 CFMDB_1331 CFTR:c.164+1G>A CFMDB substitution intron 1 CFMDB_33 CFTR:c.164+1G>C CFMDB substitution intron 1 CFMDB_1130 CFTR:c.164+1G>T CFMDB substitution intron 1 CFMDB_1368 CFTR:c.164+28A>G CFMDB substitution intron 1 CFMDB_1336 CFTR:c.164+2T>A CFMDB substitution intron 1 CFMDB_34 CFTR:c.164+2T>C CFMDB substitution intron 1 CFMDB_1401 CFTR:c.164+2T>G CFMDB substitution intron 1 CFMDB_971 CFTR:c.164+3_164+4insT CFMDB insertion intron 1 CFMDB_622 CFTR:c.2835G>A CFMDB substitution exon 1 CFMDB_647 CFTR:c.164+9A>T CFMDB substitution intron 1 CFMDB_1052 CFTR:c.165-10T>G CFMDB substitution intron 1 CFMDB_1187 CFTR:c.165-12_165-11insA CFMDB insertion intron 1 CFMDB_36 CFTR:c.165-28_165-27insA CFMDB insertion intron 1 CFMDB_37 CFTR:c.165-2A>G CFMDB substitution intron 1 CFMDB_850 CFTR:c.165-3C>A CFMDB substitution intron 1 CFMDB_38 CFTR:c.165-3C>T CFMDB substitution intron 1 CFMDB_1626 CFTR:c.165-45A>G CFMDB substitution intron 1 CFMDB_892 CFTR:c.165-50A>G CFMDB substitution intron 1 CFMDB_1343 CFTR:c.165-55C>T CFMDB substitution intron 1 CFMDB_904 CFTR:c.165-67A>C CFMDB substitution intron 1 CFMDB_1555 CFTR:c.165-73A>G CFMDB substitution intron 1 CFMDB_407 CFTR:g.123771_123802del32 CFMDB deletion exon 1 CFMDB_408 CFTR:c.2875delG CFMDB deletion exon 1 CFMDB_39 CFTR:c.168delA CFMDB deletion exon 1 CFMDB_617 CFTR:c.2896delA CFMDB deletion exon 1 CFMDB_774 CFTR:c.2898G>A CFMDB substitution exon 1 CFMDB_1312 CFTR:c.2908+23T>C CFMDB substitution intron 1 CFMDB_643 CFTR:c.2908+2T>C CFMDB substitution intron 1 CFMDB_1219 CFTR:g.126701_126707del7 CFMDB deletion intron 1 CFMDB_1220 CFTR:c.2909-15T>G CFMDB substitution intron 1 CFMDB_410 CFTR:c.2909-1G>A CFMDB substitution intron 1 CFMDB_1330 CFTR:c.2909-4A>G CFMDB substitution intron 1 CFMDB_1563 CFTR:c.2909-51G>T CFMDB substitution intron 1 CFMDB_934 CFTR:c.2909-71G>C CFMDB substitution intron 1 CFMDB_933 CFTR:c.2909-92G>A CFMDB substitution intron 1 CFMDB_411 CFTR:c.2909delG CFMDB deletion exon 1 CFMDB_412 CFTR:g.126727_126728delGA CFMDB deletion exon 1 CFMDB_42 CFTR:g.29081_29084delTAGA CFMDB deletion exon 1 CFMDB_43 CFTR:c.174_175insA CFMDB insertion exon 1 CFMDB_717 CFTR:g.126750_126751delTT CFMDB deletion exon 1 CFMDB_416 CFTR:c.2968_2969insA CFMDB insertion exon 1 CFMDB_1313 CFTR:c.2988+198G>A CFMDB substitution intron 1 CFMDB_419 CFTR:c.2988+1G>A CFMDB substitution intron 1 CFMDB_1645 CFTR:c.2988+35A>T CFMDB substitution intron 1 CFMDB_1344 CFTR:c.2988+41delA CFMDB deletion intron 1 CFMDB_1172 CFTR:c.2988+45A>G CFMDB substitution intron 1 CFMDB_418 CFTR:c.2988G>A CFMDB substitution exon 1 CFMDB_422 CFTR:c.2989-1G>A CFMDB substitution intron 1 CFMDB_421 CFTR:c.2989-2A>G CFMDB substitution intron 1 CFMDB_420 CFTR:c.2989-2A>T CFMDB substitution intron 1 CFMDB_1337 CFTR:c.2989-3C>G CFMDB substitution intron 1 CFMDB_1433 CFTR:g.132094_134608del2515 CFMDB deletion not within known transcription unit 1 CFMDB_853 CFTR:g.130562_130565del4 CFMDB deletion exon 1 CFMDB_423 CFTR:g.130565_130568del4 CFMDB deletion exon 1 CFMDB_1289 CFTR:g.130566_130580del15 CFMDB deletion exon 1 CFMDB_1376 CFTR:c.2998delA CFMDB deletion exon 1 CFMDB_424 CFTR:g.130567_130581del15 CFMDB deletion exon 1 CFMDB_425 CFTR:g.130568_130569delTG CFMDB deletion exon 1 CFMDB_1470 CFTR:g.130577_130585del9 CFMDB deletion exon 1 CFMDB_1262 CFTR:c.3020delT CFMDB deletion exon 1 CFMDB_428 CFTR:c.3021delT CFMDB deletion exon 1 CFMDB_875 CFTR:c.3022delG CFMDB deletion exon 1 CFMDB_1080 CFTR:c.3039delC CFMDB deletion exon 1 CFMDB_429 CFTR:c.3039_3040insC CFMDB insertion exon 1 CFMDB_582 CFTR:g.130609_130610delAC CFMDB deletion exon 1 CFMDB_430 CFTR:g.130631_130636del6 CFMDB deletion exon 1 CFMDB_431 CFTR:g.130632_130685del54 CFMDB deletion exon 1 CFMDB_828 CFTR:g.130635_130640del6 CFMDB deletion exon 1 CFMDB_1469 CFTR:c.3106delA CFMDB deletion exon 1 CFMDB_827 CFTR:c.3139+101C>G CFMDB substitution intron 1 CFMDB_1104 CFTR:c.3139+183T>G CFMDB substitution intron 1 CFMDB_937 CFTR:c.3139+18C>T CFMDB substitution intron 1 CFMDB_434 CFTR:c.3139+1G>A CFMDB substitution intron 1 CFMDB_938 CFTR:c.3139+42A>T CFMDB substitution intron 1 CFMDB_1508 CFTR:c.3139+8A>G CFMDB substitution intron 1 CFMDB_970 CFTR:g.130707_130708delGG CFMDB deletion exon 1 CFMDB_1351 CFTR:c.3140-11A>G CFMDB substitution intron 1 CFMDB_437 CFTR:c.3140-1G>A CFMDB substitution intron 1 CFMDB_435 CFTR:c.3140-26A>G CFMDB substitution intron 1 CFMDB_1089 CFTR:c.3140-33A>G CFMDB substitution intron 1 CFMDB_1562 CFTR:c.3140-42G>T CFMDB substitution intron 1 CFMDB_436 CFTR:c.3140-4A>G CFMDB substitution intron 1 CFMDB_432 CFTR:g.131565_132268del704 CFMDB deletion intron 1 CFMDB_433 CFTR:c.3140-9A>T CFMDB substitution intron 1 CFMDB_440 CFTR:c.3161delA CFMDB deletion exon 1 CFMDB_901 CFTR:c.-461A>G CFMDB substitution not within known transcription unit 1 CFMDB_444 CFTR:c.3188_3189ins5 CFMDB insertion exon 1 CFMDB_779 CFTR:c.3201C>T CFMDB substitution exon 1 CFMDB_780 CFTR:c.3204C>T CFMDB substitution exon 1 CFMDB_458 CFTR:g.131706_131707delCT CFMDB deletion exon 1 CFMDB_781 CFTR:c.3252A>G CFMDB substitution exon 1 CFMDB_1115 CFTR:c.3264delC CFMDB deletion exon 1 CFMDB_3 CFTR:c.-165G>A CFMDB substitution not within known transcription unit 1 CFMDB_1434 CFTR:c.3281_3282del355_insTGTTAA CFMDB deletion exon 1 CFMDB_782 CFTR:c.3285A>T CFMDB substitution exon 1 CFMDB_465 CFTR:c.3287delT CFMDB deletion exon 1 CFMDB_466 CFTR:c.3291delC CFMDB deletion exon 1 CFMDB_1003 CFTR:c.213T>C CFMDB substitution exon 1 CFMDB_783 CFTR:c.3339T>C CFMDB substitution exon 1 CFMDB_1157 CFTR:c.3345C>A CFMDB substitution exon 1 CFMDB_48 CFTR:c.215delC CFMDB deletion exon 1 CFMDB_474 CFTR:c.3363delA CFMDB deletion exon 1 CFMDB_478 CFTR:c.3367+2T>C CFMDB substitution intron 1 CFMDB_940 CFTR:c.3367+37G>A CFMDB substitution intron 1 CFMDB_677 CFTR:c.3367+3A>G CFMDB substitution intron 1 CFMDB_941 CFTR:c.3367+45T>C CFMDB substitution intron 1 CFMDB_476 CFTR:c.3367+6A>G CFMDB substitution intron 1 CFMDB_1316 CFTR:c.3367+7T>G CFMDB substitution intron 1 CFMDB_943 CFTR:c.3368-140A>C CFMDB substitution intron 1 CFMDB_1588 CFTR:c.3368-1G>A CFMDB substitution intron 1 CFMDB_967 CFTR:c.3368-2A>G CFMDB substitution intron 1 CFMDB_693 CFTR:c.3368-44G>A CFMDB substitution intron 1 CFMDB_1055 CFTR:c.3391A>G CFMDB substitution exon 1 CFMDB_881 CFTR:c.3400_3401delinsGTA CFMDB complex exon 1 CFMDB_483 CFTR:c.3424_3425insAGTA CFMDB insertion exon 1 CFMDB_838 CFTR:c.3445delT CFMDB deletion exon 1 CFMDB_52 CFTR:c.227_228insT CFMDB insertion exon 1 CFMDB_845 CFTR:c.3468+2_3468+3insT CFMDB insertion intron 1 CFMDB_1174 CFTR:c.3468+2T>C CFMDB substitution intron 1 CFMDB_694 CFTR:c.3468+42G>A CFMDB substitution intron 1 CFMDB_488 CFTR:c.3468+5G>A CFMDB substitution intron 1 CFMDB_487 CFTR:c.3468G>A CFMDB substitution exon 1 CFMDB_945 CFTR:c.3469-111G>C CFMDB substitution intron 1 CFMDB_489 CFTR:c.3469-17T>C CFMDB substitution intron 1 CFMDB_608 CFTR:c.3469-20T>C CFMDB substitution intron 1 CFMDB_490 CFTR:c.3469-2A>G CFMDB substitution intron 1 CFMDB_944 CFTR:c.3469-65C>A CFMDB substitution intron 1 CFMDB_1334 CFTR:c.228_233insT CFMDB insertion exon 1 CFMDB_805 CFTR:c.228delT CFMDB deletion exon 1 CFMDB_784 CFTR:c.3485G>T CFMDB substitution exon 1 CFMDB_607 CFTR:c.3490_3491insT CFMDB insertion exon 1 CFMDB_1350 CFTR:c.3497delT CFMDB deletion exon 1 CFMDB_1560 CFTR:c.3504C>T CFMDB substitution exon 1 CFMDB_1053 CFTR:c.-495C>T CFMDB substitution not within known transcription unit 1 CFMDB_495 CFTR:c.3527delC CFMDB deletion exon 1 CFMDB_497 CFTR:c.3530delA CFMDB deletion exon 1 CFMDB_498 CFTR:g.147626_147629del4 CFMDB deletion exon 1 CFMDB_499 CFTR:c.3535_3536ins4 CFMDB insertion exon 1 CFMDB_1050 CFTR:c.3538delA CFMDB deletion exon 1 CFMDB_984 CFTR:c.3564G>A CFMDB substitution exon 1 CFMDB_503 CFTR:c.3592delG CFMDB deletion exon 1 CFMDB_786 CFTR:c.3594G>T CFMDB substitution exon 1 CFMDB_504 CFTR:g.[147691delA(+)147689A>G] CFMDB complex exon 1 CFMDB_505 CFTR:c.3605delA CFMDB deletion exon 1 CFMDB_507 CFTR:g.147709_147710delAG CFMDB deletion exon 1 CFMDB_960 CFTR:c.3619_3623delG CFMDB deletion exon 1 CFMDB_1559 CFTR:c.3648A>C CFMDB substitution exon 1 CFMDB_890 CFTR:c.3657_3658insA CFMDB insertion exon 1 CFMDB_787 CFTR:c.3659C>T CFMDB substitution exon 1 CFMDB_510 CFTR:c.3659delC CFMDB deletion exon 1 CFMDB_1335 CFTR:c.247_249insT CFMDB insertion exon 1 CFMDB_1230 CFTR:c.3691delT CFMDB deletion exon 1 CFMDB_511 CFTR:c.3689delT CFMDB deletion exon 1 CFMDB_517 CFTR:c.3717+1G>A CFMDB substitution intron 1 CFMDB_1319 CFTR:c.3717+40A>G CFMDB substitution intron 1 CFMDB_1320 CFTR:c.3717+45G>A CFMDB substitution intron 1 CFMDB_519 CFTR:c.3717+4A>G CFMDB substitution intron 1 CFMDB_847 CFTR:c.3717+5G>A CFMDB substitution intron 1 CFMDB_516 CFTR:c.3717G>A CFMDB substitution exon 1 CFMDB_520 CFTR:c.3718-1G>A CFMDB substitution intron 1 CFMDB_521 CFTR:c.3718-3T>G CFMDB substitution intron 1 CFMDB_1616 CFTR:c.3718-41G>C CFMDB substitution intron 1 CFMDB_741 CFTR:c.3718-79T>C CFMDB substitution intron 1 CFMDB_522 CFTR:c.3728_3729ins31 CFMDB insertion exon 1 CFMDB_788 CFTR:c.3735A>G CFMDB substitution exon 1 CFMDB_808 CFTR:c.3744delA CFMDB deletion exon 1 CFMDB_1040 CFTR:c.3746delG CFMDB deletion exon 1 CFMDB_1615 CFTR:c.3759G>A CFMDB substitution exon 1 CFMDB_532 CFTR:c.3766_3767insC CFMDB insertion exon 1 CFMDB_533 CFTR:c.3773_3774insT CFMDB insertion exon 1 CFMDB_534 CFTR:c.3774_3775insG CFMDB insertion exon 1 CFMDB_606 CFTR:g.162548_162557delinsC CFMDB complex exon 1 CFMDB_789 CFTR:c.3807C>T CFMDB substitution exon 1 CFMDB_839 CFTR:g.162570_162571delGT CFMDB deletion exon 1 CFMDB_57 CFTR:g.29169_29170delTT CFMDB deletion exon 1 CFMDB_1332 CFTR:c.3829delA CFMDB deletion exon 1 CFMDB_946 CFTR:c.3873+117T>G CFMDB substitution intron 1 CFMDB_947 CFTR:g.162752_162753delTT CFMDB deletion intron 1 CFMDB_545 CFTR:c.3873+1G>A CFMDB substitution intron 1 CFMDB_948 CFTR:c.3873+28_3873+29insA CFMDB insertion intron 1 CFMDB_1321 CFTR:c.3873+29G>C CFMDB substitution intron 1 CFMDB_756 CFTR:c.3873+2T>C CFMDB substitution intron 1 CFMDB_1322 CFTR:c.3873+33A>G CFMDB substitution intron 1 CFMDB_614 CFTR:c.3874-103delT CFMDB deletion intron 1 CFMDB_1628 CFTR:c.3874-11T>G CFMDB substitution intron 1 CFMDB_644 CFTR:c.3874-14C>G CFMDB substitution intron 1 CFMDB_547 CFTR:g.172861_172863del3 CFMDB deletion intron 1 CFMDB_949 CFTR:c.3874-200G>A CFMDB substitution intron 1 CFMDB_1389 CFTR:g.172834_172838delTATTT CFMDB deletion intron 1 CFMDB_681 CFTR:c.3874-4A>G CFMDB substitution intron 1 CFMDB_1557 CFTR:c.3874-50A>C CFMDB substitution intron 1 CFMDB_546 CFTR:g.172819_172832del14 CFMDB deletion intron 1 CFMDB_727 CFTR:c.3874-8T>A CFMDB substitution intron 1 CFMDB_1051 CFTR:c.3874delA CFMDB deletion exon 1 CFMDB_548 CFTR:g.172884_172887del4 CFMDB deletion exon 1 CFMDB_549 CFTR:c.3883delA CFMDB deletion exon 1 CFMDB_550 CFTR:c.3884_3885insT CFMDB insertion exon 1 CFMDB_1417 CFTR:c.3890_3891insT CFMDB insertion exon 1 CFMDB_791 CFTR:c.3897A>G CFMDB substitution exon 1 CFMDB_552 CFTR:c.3908delA CFMDB deletion exon 1 CFMDB_1599 CFTR:g.172915_172920delinsTGT CFMDB complex exon 1 CFMDB_555 CFTR:c.3916_3917insCC CFMDB insertion exon 1 CFMDB_63 CFTR:c.273+1G>A CFMDB substitution intron 1 CFMDB_64 CFTR:c.273+3A>C CFMDB substitution intron 1 CFMDB_840 CFTR:c.273+42A>G CFMDB substitution intron 1 CFMDB_905 CFTR:c.273+46T>G CFMDB substitution intron 1 CFMDB_65 CFTR:c.273+4A>G CFMDB substitution intron 1 CFMDB_66 CFTR:c.274-10C>G CFMDB substitution intron 1 CFMDB_906 CFTR:c.274-112T>A CFMDB substitution intron 1 CFMDB_1203 CFTR:c.274-13T>C CFMDB substitution intron 1 CFMDB_885 CFTR:c.274-1G>A CFMDB substitution intron 1 CFMDB_69 CFTR:c.274-1G>C CFMDB substitution intron 1 CFMDB_70 CFTR:c.274-1G>T CFMDB substitution intron 1 CFMDB_68 CFTR:c.274-2A>C CFMDB substitution intron 1 CFMDB_631 CFTR:c.274-2A>G CFMDB substitution intron 1 CFMDB_848 CFTR:c.274-3T>C CFMDB substitution intron 1 CFMDB_1403 CFTR:c.274-5T>G CFMDB substitution intron 1 CFMDB_67 CFTR:c.274-6T>C CFMDB substitution intron 1 CFMDB_1065 CFTR:c.274-83A>G CFMDB substitution intron 1 CFMDB_793 CFTR:c.3954T>C CFMDB substitution exon 1 CFMDB_1601 CFTR:c.3963+1G>C CFMDB substitution intron 1 CFMDB_1370 CFTR:c.3963+2T>A CFMDB substitution intron 1 CFMDB_612 CFTR:c.3963+42T>C CFMDB substitution intron 1 CFMDB_1260 CFTR:c.3964-1G>A CFMDB substitution intron 1 CFMDB_950 CFTR:c.3964-283T>C CFMDB substitution intron 1 CFMDB_684 CFTR:c.3964-28G>A CFMDB substitution intron 1 CFMDB_709 CFTR:c.3964-3C>G CFMDB substitution intron 1 CFMDB_1517 CFTR:c.-93G>C CFMDB substitution 5' UTR 1 CFMDB_633 CFTR:c.3976delT CFMDB deletion exon 1 CFMDB_560 CFTR:c.3982_3984delinsTT CFMDB complex exon 1 CFMDB_636 CFTR:g.50943_50949delinsTA CFMDB complex exon 1 CFMDB_1484 CFTR:g.184798_184804delCTAAGCC CFMDB deletion exon 1 CFMDB_1602 CFTR:c.4039_4040insA CFMDB insertion exon 1 CFMDB_561 CFTR:g.184802_184803delGC CFMDB deletion exon 1 CFMDB_562 CFTR:c.4041delC CFMDB deletion exon 1 CFMDB_1202 CFTR:c.4071_4073delinsAA CFMDB complex exon 1 CFMDB_1472 CFTR:c.4077_4080delinsAA CFMDB complex exon 1 CFMDB_565 CFTR:c.4086_4087insT CFMDB insertion exon 1 CFMDB_1037 CFTR:c.4137-108A>G CFMDB substitution intron 1 CFMDB_621 CFTR:c.4137-139G>A CFMDB substitution intron 1 CFMDB_569 CFTR:c.4139delC CFMDB deletion exon 1 CFMDB_1452 CFTR:c.4140delA CFMDB deletion exon 1 CFMDB_570 CFTR:c.4147_4148insA CFMDB insertion exon 1 CFMDB_573 CFTR:g.185554_185555delTC CFMDB deletion exon 1 CFMDB_1111 CFTR:g.185560_185561delTG CFMDB deletion exon 1 CFMDB_794 CFTR:c.4224G>A CFMDB substitution exon 1 CFMDB_76 CFTR:c.303_304insA CFMDB insertion exon 1 CFMDB_917 CFTR:c.4242+10T>C CFMDB substitution intron 1 CFMDB_951 CFTR:c.4242+13A>G CFMDB substitution intron 1 CFMDB_952 CFTR:c.4242+14A>G CFMDB substitution intron 1 CFMDB_576 CFTR:c.4242+1G>A CFMDB substitution intron 1 CFMDB_577 CFTR:c.4242+1G>T CFMDB substitution intron 1 CFMDB_1604 CFTR:c.4374_4374+1delinsTT CFMDB complex intron 1 CFMDB_953 CFTR:c.4243-15C>T CFMDB substitution intron 1 CFMDB_1038 CFTR:c.4243-1G>C CFMDB substitution intron 1 CFMDB_1204 CFTR:c.4243-36delT CFMDB deletion intron 1 CFMDB_578 CFTR:c.4250delA CFMDB deletion exon 1 CFMDB_795 CFTR:c.4272C>T CFMDB substitution exon 1 CFMDB_78 CFTR:g.[50972delA(+)51017T>A] CFMDB complex exon 1 CFMDB_846 CFTR:c.4296_4297insGA CFMDB insertion exon 1 CFMDB_79 CFTR:c.312delA CFMDB deletion exon 1 CFMDB_1556 CFTR:c.4332C>T CFMDB substitution exon 1 CFMDB_735 CFTR:g.50982_50989del8 CFMDB deletion exon 1 CFMDB_796 CFTR:c.4389G>A CFMDB substitution exon 1 CFMDB_1550 CFTR:c.4425G>A CFMDB substitution exon 1 CFMDB_1162 CFTR:c.4431T>C CFMDB substitution exon 1 CFMDB_1324 CFTR:c.4443+2G>A CFMDB substitution intron 1 CFMDB_81 CFTR:c.325_327delinsG CFMDB complex exon 1 CFMDB_863 CFTR:g.50989_50990delAT CFMDB deletion exon 1 CFMDB_83 CFTR:c.328delG CFMDB deletion exon 1 CFMDB_1410 CFTR:c.-593A>G CFMDB substitution not within known transcription unit 1 CFMDB_1039 CFTR:c.4523T>G CFMDB substitution intron 1 CFMDB_1062 CFTR:c.333G>A CFMDB substitution exon 1 CFMDB_1552 CFTR:c.357C>T CFMDB substitution exon 1 CFMDB_1423 CFTR:c.357delC CFMDB deletion exon 1 CFMDB_1109 CFTR:c.-85C>G CFMDB substitution 5' UTR 1 CFMDB_1005 CFTR:c.360G>A CFMDB substitution exon 1 CFMDB_1447 CFTR:c.387delT CFMDB deletion exon 1 CFMDB_857 CFTR:c.393delT CFMDB deletion exon 1 CFMDB_97 CFTR:g.51072_51075del4 CFMDB deletion exon 1 CFMDB_96 CFTR:c.409delC CFMDB deletion exon 1 CFMDB_1006 CFTR:c.413T>C CFMDB substitution exon 1 CFMDB_1118 CFTR:c.414_415insCTA CFMDB insertion exon 1 CFMDB_1589 CFTR:c.415_416insGA CFMDB insertion exon 1 CFMDB_650 CFTR:c.415_416insTA CFMDB insertion exon 1 CFMDB_711 CFTR:c.417C>T CFMDB substitution exon 1 CFMDB_100 CFTR:c.420_421insA CFMDB insertion exon 1 CFMDB_102 CFTR:c.424delA CFMDB deletion exon 1 CFMDB_103 CFTR:c.425delT CFMDB deletion exon 1 CFMDB_600 CFTR:c.433delC CFMDB deletion exon 1 CFMDB_104 CFTR:c.442delA CFMDB deletion exon 1 CFMDB_1295 CFTR:c.444_445insCTA CFMDB insertion exon 1 CFMDB_109 CFTR:g.51122_51139del18 CFMDB deletion exon 1 CFMDB_110 CFTR:c.473_474insT CFMDB insertion exon 1 CFMDB_112 CFTR:c.489+1G>T CFMDB substitution intron 1 CFMDB_113 CFTR:c.489+2T>C CFMDB substitution intron 1 CFMDB_114 CFTR:c.489+2T>G CFMDB substitution intron 1 CFMDB_1061 CFTR:c.489+31C>G CFMDB substitution intron 1 CFMDB_836 CFTR:c.489+3A>G CFMDB substitution intron 1 CFMDB_111 CFTR:c.489G>A CFMDB substitution exon 1 CFMDB_822 CFTR:c.490-103A>G CFMDB substitution intron 1 CFMDB_986 CFTR:c.490-116A>G CFMDB substitution intron 1 CFMDB_988 CFTR:c.490-152G>C CFMDB substitution intron 1 CFMDB_116 CFTR:c.490-1G>A CFMDB substitution intron 1 CFMDB_115 CFTR:c.490-2A>C CFMDB substitution intron 1 CFMDB_1420 CFTR:c.490-2A>G CFMDB substitution intron 1 CFMDB_117 CFTR:c.492delT CFMDB deletion exon 1 CFMDB_122 CFTR:c.525delA CFMDB deletion exon 1 CFMDB_888 CFTR:c.531delT CFMDB deletion exon 1 CFMDB_823 CFTR:g.54367_54370del4 CFMDB deletion exon 1 CFMDB_1008 CFTR:c.544A>G CFMDB substitution exon 1 CFMDB_124 CFTR:c.549delC CFMDB deletion exon 1 CFMDB_130 CFTR:c.579+1G>T CFMDB substitution intron 1 CFMDB_653 CFTR:c.579+34A>G CFMDB substitution intron 1 CFMDB_131 CFTR:c.579+3A>C CFMDB substitution intron 1 CFMDB_132 CFTR:c.579+3A>G CFMDB substitution intron 1 CFMDB_133 CFTR:c.579+3A>T CFMDB substitution intron 1 CFMDB_134 CFTR:c.579+5G>A CFMDB substitution intron 1 CFMDB_135 CFTR:c.580-1G>T CFMDB substitution intron 1 CFMDB_691 CFTR:c.580-92T>A CFMDB substitution intron 1 CFMDB_1009 CFTR:c.609C>T CFMDB substitution exon 1 CFMDB_974 CFTR:c.627A>G CFMDB substitution exon 1 CFMDB_1449 CFTR:c.663G>A CFMDB substitution exon 1 CFMDB_720 CFTR:c.-966T>G CFMDB substitution not within known transcription unit 1 CFMDB_147 CFTR:g.55426_55447del22 CFMDB deletion exon 1 CFMDB_1010 CFTR:c.741C>T CFMDB substitution exon 1 CFMDB_1503 CFTR:c.742_743insTACA CFMDB insertion exon 1 CFMDB_150 CFTR:c.743+1G>A CFMDB substitution intron 1 CFMDB_151 CFTR:c.743+1G>C CFMDB substitution intron 1 CFMDB_909 CFTR:c.743+40A>G CFMDB substitution intron 1 CFMDB_153 CFTR:g.56576_56583del8 CFMDB deletion intron 1 CFMDB_152 CFTR:g.56572_56583del12 CFMDB deletion intron 1 CFMDB_1036 CFTR:c.744-3C>T CFMDB substitution intron 1 CFMDB_1571 CFTR:c.744-8A>C CFMDB substitution intron 1 CFMDB_155 CFTR:c.773delG CFMDB deletion exon 1 CFMDB_968 CFTR:c.803delA CFMDB deletion exon 1 CFMDB_157 CFTR:g.56646_56647delTA CFMDB deletion exon 1 CFMDB_815 CFTR:c.-226G>T CFMDB substitution not within known transcription unit 1 CFMDB_159 CFTR:c.845_846insA CFMDB insertion exon 1 CFMDB_1281 CFTR:c.857_860insA CFMDB insertion exon 1 CFMDB_654 CFTR:g.56701_56705del5 CFMDB deletion exon 1 CFMDB_856 CFTR:g.56704_56712del9 CFMDB deletion exon 1 CFMDB_1107 CFTR:c.-34C>T CFMDB substitution 5' UTR 1 CFMDB_427 CFTR:c.3017C>A CFMDB substitution exon 1 CFMDB_1101 CFTR:c.3025G>A CFMDB substitution exon 1 CFMDB_1385 CFTR:c.3074C>A CFMDB substitution exon 1 CFMDB_1200 CFTR:c.3200C>A CFMDB substitution exon 1 CFMDB_1450 CFTR:c.3200C>G CFMDB substitution exon 1 CFMDB_1631 CFTR:c.3199G>C CFMDB substitution exon 1 CFMDB_452 CFTR:c.3199G>A CFMDB substitution exon 1 CFMDB_778 CFTR:c.3200C>T CFMDB substitution exon 1 CFMDB_1629 CFTR:c.320C>G CFMDB substitution exon 1 CFMDB_1212 CFTR:c.3241G>C CFMDB substitution exon 1 CFMDB_1468 CFTR:c.3259G>C CFMDB substitution exon 1 CFMDB_1167 CFTR:c.3406G>A CFMDB substitution exon 1 CFMDB_92 CFTR:c.358G>A CFMDB substitution exon 1 CFMDB_1278 CFTR:c.359C>T CFMDB substitution exon 1 CFMDB_566 CFTR:c.4091C>T CFMDB substitution exon 1 CFMDB_101 CFTR:c.422C>A CFMDB substitution exon 1 CFMDB_843 CFTR:c.463G>C CFMDB substitution exon 1 CFMDB_1068 CFTR:c.592G>C CFMDB substitution exon 1 CFMDB_942 CFTR:c.625G>T CFMDB substitution exon 1 CFMDB_1537 CFTR:c.713C>T CFMDB substitution exon 1 CFMDB_1144 CFTR:c.895G>A CFMDB substitution exon 1 CFMDB_859 CFTR:c.927C>G CFMDB substitution exon 1 CFMDB_166 CFTR:c.926C>A CFMDB substitution exon 1 CFMDB_656 CFTR:c.926C>G CFMDB substitution exon 1 CFMDB_1300 CFTR:c.925G>A CFMDB substitution exon 1 CFMDB_1301 CFTR:c.926C>T CFMDB substitution exon 1 CFMDB_195 CFTR:c.1046C>T CFMDB substitution exon 1 CFMDB_1273 CFTR:c.1196C>A CFMDB substitution exon 1 CFMDB_1083 CFTR:c.1196C>T CFMDB substitution exon 1 CFMDB_222 CFTR:c.1364C>A CFMDB substitution exon 1 CFMDB_29 CFTR:c.137C>A CFMDB substitution exon 1 CFMDB_256 CFTR:c.1601C>A CFMDB substitution exon 1 CFMDB_1191 CFTR:c.1676C>A CFMDB substitution exon 1 CFMDB_278 CFTR:c.1675G>A CFMDB substitution exon 1 CFMDB_1592 CFTR:c.1676C>T CFMDB substitution exon 1 CFMDB_286 CFTR:c.1682C>A CFMDB substitution exon 1 CFMDB_1338 CFTR:c.1696G>A CFMDB substitution exon 1 CFMDB_667 CFTR:c.1837G>A CFMDB substitution exon 1 CFMDB_648 CFTR:c.215C>A CFMDB substitution exon 1 CFMDB_1045 CFTR:c.214G>A CFMDB substitution exon 1 CFMDB_360 CFTR:c.2399C>G CFMDB substitution exon 1 CFMDB_1345 CFTR:c.2876C>T CFMDB substitution exon 1 CFMDB_1134 CFTR:c.287C>A CFMDB substitution exon 1 CFMDB_142 CFTR:c.673T>C CFMDB substitution exon 1 CFMDB_646 CFTR:c.675T>A CFMDB substitution exon 1 CFMDB_158 CFTR:c.828C>A CFMDB substitution exon 1 CFMDB_722 CFTR:c.1471T>C CFMDB substitution exon 1 CFMDB_250 CFTR:c.1572C>A CFMDB substitution exon 1 CFMDB_1436 CFTR:c.2596T>G CFMDB substitution exon 1 CFMDB_1444 CFTR:c.2596T>A CFMDB substitution exon 1 CFMDB_377 CFTR:c.2597G>A CFMDB substitution exon 1 CFMDB_581 CFTR:g.50937_79693del CFMDB deletion not within known transcription unit 0 CFMDB_688 CFTR:g.50937_79693del CFMDB deletion not within known transcription unit 0 CFMDB_1429 CFTR:g.1_187143del CFMDB deletion not within known transcription unit 0 CFMDB_689 CFTR:g.114968_115096del CFMDB deletion exon 0 CFMDB_1369 CFTR:g.122864_131846del CFMDB deletion not within known transcription unit 0 CFMDB_642 CFTR:g.122864_134751del CFMDB deletion not within known transcription unit 0 CFMDB_1106 CFTR:g.126712_131846del CFMDB deletion not within known transcription unit 0 CFMDB_1085 CFTR:g.131619_134751del CFMDB deletion not within known transcription unit 0 CFMDB_1205 CFTR:g.147560_147808del CFMDB deletion exon 0 CFMDB_686 CFTR:g.24291_24401del CFMDB deletion exon 0 CFMDB_1086 CFTR:g.172880_172969del CFMDB deletion exon 0 CFMDB_1105 CFTR:g.24291_79693del CFMDB deletion not within known transcription unit 0 CFMDB_687 CFTR:g.24291_29180del CFMDB deletion not within known transcription unit 0 CFMDB_1607 CFTR:g.79502_134751dup CFMDB duplication not within known transcription unit 0 CFMDB_1606 CFTR:g.107777_112695dup CFMDB duplication not within known transcription unit 0 CFMDB_1407 CFTR:g.50937_62146dup CFMDB duplication not within known transcription unit 0 CFMDB_1097 CFTR:c.330C>A CFMDB substitution exon 1 CFMDB_84 CFTR:c.328G>C CFMDB substitution exon 1 CFMDB_1290 CFTR:c.328G>A CFMDB substitution exon 1 CFMDB_1124 CFTR:c.328G>T CFMDB substitution exon 1 CFMDB_485 CFTR:c.3454G>C CFMDB substitution exon 1 CFMDB_486 CFTR:c.3461A>G CFMDB substitution exon 1 CFMDB_494 CFTR:c.3503A>G CFMDB substitution exon 1 CFMDB_537 CFTR:c.3808G>A CFMDB substitution exon 1 CFMDB_1475 CFTR:c.3808G>T CFMDB substitution exon 1 CFMDB_738 CFTR:c.3915T>A CFMDB substitution exon 1 CFMDB_568 CFTR:c.4129G>C CFMDB substitution exon 1 CFMDB_629 CFTR:c.4333G>A CFMDB substitution exon 1 CFMDB_126 CFTR:c.575A>G CFMDB substitution exon 1 CFMDB_125 CFTR:c.574G>A CFMDB substitution exon 1 CFMDB_1348 CFTR:c.106G>A CFMDB substitution exon 1 CFMDB_1576 CFTR:c.1119T>G CFMDB substitution exon 1 CFMDB_218 CFTR:c.1327G>T CFMDB substitution exon 1 CFMDB_28 CFTR:c.131A>G CFMDB substitution exon 1 CFMDB_818 CFTR:c.1538A>G CFMDB substitution exon 1 CFMDB_1642 CFTR:c.1586A>G CFMDB substitution exon 1 CFMDB_1139 CFTR:c.1585G>C CFMDB substitution exon 1 CFMDB_1291 CFTR:p.D537E CFMDB substitution exon 1 CFMDB_1267 CFTR:c.1694A>G CFMDB substitution exon 1 CFMDB_299 CFTR:c.1714G>A CFMDB substitution exon 1 CFMDB_210 CFTR:c.1736A>C CFMDB substitution exon 1 CFMDB_304 CFTR:c.1736A>G CFMDB substitution exon 1 CFMDB_303 CFTR:c.1735G>T CFMDB substitution exon 1 CFMDB_1119 CFTR:c.173A>G CFMDB substitution exon 1 CFMDB_625 CFTR:c.172G>A CFMDB substitution exon 1 CFMDB_320 CFTR:c.1841A>G CFMDB substitution exon 1 CFMDB_1193 CFTR:c.1840G>T CFMDB substitution exon 1 CFMDB_1270 CFTR:c.1915G>T CFMDB substitution exon 1 CFMDB_1259 CFTR:c.1951G>C CFMDB substitution exon 1 CFMDB_961 CFTR:c.1951G>A CFMDB substitution exon 1 CFMDB_1534 CFTR:c.2021A>T CFMDB substitution exon 1 CFMDB_1585 CFTR:c.2417A>G CFMDB substitution exon 1 CFMDB_1308 CFTR:c.2483A>G CFMDB substitution exon 1 CFMDB_371 CFTR:c.2506G>T CFMDB substitution exon 1 CFMDB_886 CFTR:c.2672A>G CFMDB substitution exon 1 CFMDB_1199 CFTR:c.2770G>A CFMDB substitution exon 1 CFMDB_673 CFTR:c.2936A>C CFMDB substitution exon 1 CFMDB_674 CFTR:c.2936A>T CFMDB substitution exon 1 CFMDB_880 CFTR:c.2953G>C CFMDB substitution exon 1 CFMDB_415 CFTR:c.2953G>T CFMDB substitution exon 1 CFMDB_1634 CFTR:c.2978A>G CFMDB substitution exon 1 CFMDB_417 CFTR:c.2977G>T CFMDB substitution exon 1 CFMDB_1605 CFTR:c.53+2909_870-1620del CFMDB deletion intron 0 CFMDB_1457 CFTR:g.130557_131846del CFMDB deletion not within known transcription unit 0 CFMDB_1456 CFTR:g.130557_134751del CFMDB deletion not within known transcription unit 0 CFMDB_1458 CFTR:g.184726_185602del CFMDB deletion not within known transcription unit 0 CFMDB_1455 CFTR:g.184726_187143del CFMDB deletion not within known transcription unit 0 CFMDB_1460 CFTR:g.24291_29180del CFMDB deletion not within known transcription unit 0 CFMDB_1459 CFTR:g.50937_55449del CFMDB deletion not within known transcription unit 0 CFMDB_1454 CFTR:g.941_185del CFMDB deletion not within known transcription unit 0 CFMDB_1453 CFTR:g.941_24401del CFMDB deletion not within known transcription unit 0 CFMDB_127 CFTR:p.D192del CFMDB deletion exon 1 CFMDB_86 CFTR:c.343_345del3 CFMDB deletion exon 1 CFMDB_168 CFTR:c.935_937del3 CFMDB deletion exon 1 CFMDB_246 CFTR:c.1521_1523del3 CFMDB deletion exon 1 CFMDB_245 CFTR:c.1519_1521del3 CFMDB deletion exon 1 CFMDB_535 CFTR:p.L1260del CFMDB deletion exon 1 CFMDB_221 CFTR:c.1360_1362del3 CFMDB deletion exon 1 CFMDB_482 CFTR:c.3419_3421del3 CFMDB deletion exon 1 CFMDB_1587 CFTR:c.1016_1018del3 CFMDB deletion exon 1 CFMDB_924 CFTR:g.79744_79754dup CFMDB duplication intron 1 CFMDB_473 CFTR:c.3310G>T CFMDB substitution exon 1 CFMDB_804 CFTR:g.134654_134656delAAG CFMDB deletion exon 1 CFMDB_87 CFTR:c.346G>A CFMDB substitution exon 1 CFMDB_1116 CFTR:c.346G>C CFMDB substitution exon 1 CFMDB_1084 CFTR:c.3683A>G CFMDB substitution exon 1 CFMDB_719 CFTR:c.3922G>T CFMDB substitution exon 1 CFMDB_559 CFTR:c.3961G>C CFMDB substitution exon 1 CFMDB_567 CFTR:c.4111G>T CFMDB substitution exon 1 CFMDB_1603 CFTR:c.4202A>G CFMDB substitution exon 1 CFMDB_1514 CFTR:c.4201G>A CFMDB substitution exon 1 CFMDB_854 CFTR:c.4201G>T CFMDB substitution exon 1 CFMDB_1364 CFTR:c.4225G>A CFMDB substitution exon 1 CFMDB_572 CFTR:c.4226A>T CFMDB substitution exon 1 CFMDB_1428 CFTR:p.E1418X CFMDB substitution exon 1 CFMDB_1341 CFTR:c.4417G>T CFMDB substitution exon 1 CFMDB_128 CFTR:c.577G>A CFMDB substitution exon 1 CFMDB_129 CFTR:c.577G>T CFMDB substitution exon 1 CFMDB_844 CFTR:c.650A>G CFMDB substitution exon 1 CFMDB_762 CFTR:g.56675_56677delAAG CFMDB deletion exon 1 CFMDB_1539 CFTR:c.837A>T CFMDB substitution exon 1 CFMDB_655 CFTR:c.874G>A CFMDB substitution exon 1 CFMDB_1225 CFTR:c.1135G>A CFMDB substitution exon 1 CFMDB_1129 CFTR:c.1135G>T CFMDB substitution exon 1 CFMDB_1148 CFTR:c.1209G>C CFMDB substitution exon 1 CFMDB_994 CFTR:c.1220A>T CFMDB substitution exon 1 CFMDB_1189 CFTR:c.1420G>A CFMDB substitution exon 1 CFMDB_1633 CFTR:c.1435G>T CFMDB substitution exon 1 CFMDB_242 CFTR:c.1510G>C CFMDB substitution exon 1 CFMDB_724 CFTR:c.1510G>T CFMDB substitution exon 1 CFMDB_964 CFTR:c.1580A>G CFMDB substitution exon 1 CFMDB_817 CFTR:c.1579G>C CFMDB substitution exon 1 CFMDB_1190 CFTR:c.1584G>T CFMDB substitution exon 1 CFMDB_624 CFTR:c.166G>A CFMDB substitution exon 1 CFMDB_308 CFTR:c.1753G>T CFMDB substitution exon 1 CFMDB_1471 CFTR:c.1763A>T CFMDB substitution exon 1 CFMDB_1257 CFTR:c.1823A>G CFMDB substitution exon 1 CFMDB_1123 CFTR:c.178G>A CFMDB substitution exon 1 CFMDB_44 CFTR:c.178G>T CFMDB substitution exon 1 CFMDB_761 CFTR:c.1966G>T CFMDB substitution exon 1 CFMDB_332 CFTR:c.1990G>T CFMDB substitution exon 1 CFMDB_714 CFTR:c.2013_2016del CFMDB deletion exon 1 CFMDB_342 CFTR:c.2074G>T CFMDB substitution exon 1 CFMDB_799 CFTR:c.2173G>A CFMDB substitution exon 1 CFMDB_349 CFTR:c.2188G>T CFMDB substitution exon 1 CFMDB_1280 CFTR:c.19G>T CFMDB substitution exon 1 CFMDB_363 CFTR:c.2464G>A CFMDB substitution exon 1 CFMDB_364 CFTR:c.2464G>T CFMDB substitution exon 1 CFMDB_800 CFTR:c.2467G>T CFMDB substitution exon 1 CFMDB_366 CFTR:c.2476G>A CFMDB substitution exon 1 CFMDB_367 CFTR:c.2479G>T CFMDB substitution exon 1 CFMDB_370 CFTR:c.2491G>T CFMDB substitution exon 1 CFMDB_1422 CFTR:p.E92D CFMDB substitution exon 1 CFMDB_71 CFTR:c.274G>A CFMDB substitution exon 1 CFMDB_72 CFTR:c.274G>T CFMDB substitution exon 1 CFMDB_1398 CFTR:c.3047T>C CFMDB substitution exon 1 CFMDB_438 CFTR:c.3154T>G CFMDB substitution exon 1 CFMDB_457 CFTR:c.3222T>A CFMDB substitution exon 1 CFMDB_1366 CFTR:c.3497T>G CFMDB substitution exon 1 CFMDB_899 CFTR:c.3771T>G CFMDB substitution exon 1 CFMDB_542 CFTR:c.3857T>C CFMDB substitution exon 1 CFMDB_645 CFTR:c.3898T>C CFMDB substitution exon 1 CFMDB_819 CFTR:c.4009T>G CFMDB substitution exon 1 CFMDB_1224 CFTR:c.598T>A CFMDB substitution exon 1 CFMDB_1516 CFTR:c.913T>G CFMDB substitution exon 1 CFMDB_169 CFTR:c.933C>G CFMDB substitution exon 1 CFMDB_1163 CFTR:c.948T>G CFMDB substitution exon 1 CFMDB_1024 CFTR:c.1523T>G CFMDB substitution exon 1 CFMDB_1138 CFTR:c.1523T>C CFMDB substitution exon 1 CFMDB_1394 CFTR:c.1759T>A CFMDB substitution exon 1 CFMDB_343 CFTR:c.2077T>C CFMDB substitution exon 1 CFMDB_1209 CFTR:c.2079T>G CFMDB substitution exon 1 CFMDB_58 CFTR:c.259T>C CFMDB substitution exon 1 CFMDB_1156 CFTR:c.2795T>C CFMDB substitution exon 1 CFMDB_797 CFTR:c.2981T>G CFMDB substitution exon 1 CFMDB_1166 CFTR:c.3007G>T CFMDB substitution exon 1 CFMDB_77 CFTR:c.307G>T CFMDB substitution exon 1 CFMDB_675 CFTR:c.3140G>A CFMDB substitution exon 1 CFMDB_1314 CFTR:c.3139G>C CFMDB substitution exon 1 CFMDB_443 CFTR:c.3181G>C CFMDB substitution exon 1 CFMDB_453 CFTR:c.3205G>A CFMDB substitution exon 1 CFMDB_475 CFTR:c.3367G>C CFMDB substitution exon 1 CFMDB_477 CFTR:c.3380G>A CFMDB substitution exon 1 CFMDB_1218 CFTR:c.3389G>C CFMDB substitution exon 1 CFMDB_1127 CFTR:c.3709G>A CFMDB substitution exon 1 CFMDB_523 CFTR:c.3731G>A CFMDB substitution exon 1 CFMDB_1481 CFTR:c.3730G>A CFMDB substitution exon 1 CFMDB_524 CFTR:c.3731G>T CFMDB substitution exon 1 CFMDB_599 CFTR:c.3739G>A CFMDB substitution exon 1 CFMDB_1490 CFTR:c.3739G>C CFMDB substitution exon 1 CFMDB_527 CFTR:c.3746G>A CFMDB substitution exon 1 CFMDB_526 CFTR:c.3745G>A CFMDB substitution exon 1 CFMDB_94 CFTR:c.377G>A CFMDB substitution exon 1 CFMDB_563 CFTR:c.4046G>A CFMDB substitution exon 1 CFMDB_998 CFTR:c.4045G>A CFMDB substitution exon 1 CFMDB_106 CFTR:c.445G>A CFMDB substitution exon 1 CFMDB_1521 CFTR:c.446G>T CFMDB substitution exon 1 CFMDB_1441 CFTR:c.533G>A CFMDB substitution exon 1 CFMDB_123 CFTR:c.532G>A CFMDB substitution exon 1 CFMDB_1487 CFTR:c.580G>A CFMDB substitution exon 1 CFMDB_1135 CFTR:c.581G>T CFMDB substitution exon 1 CFMDB_1298 CFTR:c.639G>T CFMDB substitution exon 1 CFMDB_146 CFTR:c.715G>A CFMDB substitution exon 1 CFMDB_635 CFTR:c.721G>A CFMDB substitution exon 1 CFMDB_21 CFTR:c.80G>A CFMDB substitution exon 1 CFMDB_1419 CFTR:c.79G>A CFMDB substitution exon 1 CFMDB_1463 CFTR:c.79G>C CFMDB substitution exon 1 CFMDB_20 CFTR:c.79G>T CFMDB substitution exon 1 CFMDB_171 CFTR:c.941G>A CFMDB substitution exon 1 CFMDB_170 CFTR:c.940G>C CFMDB substitution exon 1 CFMDB_737 CFTR:c.941G>T CFMDB substitution exon 1 CFMDB_179 CFTR:c.988G>T CFMDB substitution exon 1 CFMDB_1087 CFTR:c.1270G>A CFMDB substitution exon 1 CFMDB_225 CFTR:c.1373G>T CFMDB substitution exon 1 CFMDB_231 CFTR:c.1438G>T CFMDB substitution exon 1 CFMDB_232 CFTR:c.1439G>A CFMDB substitution exon 1 CFMDB_1020 CFTR:c.1440T>C CFMDB substitution exon 1 CFMDB_1210 CFTR:c.1438G>A CFMDB substitution exon 1 CFMDB_234 CFTR:c.1456G>T CFMDB substitution exon 1 CFMDB_258 CFTR:c.1624G>T CFMDB substitution exon 1 CFMDB_259 CFTR:c.1630G>A CFMDB substitution exon 1 CFMDB_603 CFTR:c.1631G>T CFMDB substitution exon 1 CFMDB_265 CFTR:c.1648G>A CFMDB substitution exon 1 CFMDB_266 CFTR:c.1648G>T CFMDB substitution exon 1 CFMDB_269 CFTR:c.1652G>A CFMDB substitution exon 1 CFMDB_268 CFTR:c.1651G>A CFMDB substitution exon 1 CFMDB_590 CFTR:c.1727G>C CFMDB substitution exon 1 CFMDB_301 CFTR:c.1726G>T CFMDB substitution exon 1 CFMDB_669 CFTR:c.1865G>A CFMDB substitution exon 1 CFMDB_324 CFTR:c.1882G>A CFMDB substitution exon 1 CFMDB_325 CFTR:c.1882G>C CFMDB substitution exon 1 CFMDB_336 CFTR:c.2017G>T CFMDB substitution exon 1 CFMDB_1306 CFTR:c.2168G>T CFMDB substitution exon 1 CFMDB_1461 CFTR:c.2233G>T CFMDB substitution exon 1 CFMDB_55 CFTR:c.254G>A CFMDB substitution exon 1 CFMDB_56 CFTR:c.254G>T CFMDB substitution exon 1 CFMDB_62 CFTR:c.271G>A CFMDB substitution exon 1 CFMDB_734 CFTR:c.2909G>A CFMDB substitution exon 1 CFMDB_409 CFTR:c.2908G>C CFMDB substitution exon 1 CFMDB_1619 CFTR:c.2908G>A CFMDB substitution exon 1 CFMDB_439 CFTR:c.3160C>G CFMDB substitution exon 1 CFMDB_1523 CFTR:c.3161A>T CFMDB substitution exon 1 CFMDB_1577 CFTR:c.3161A>G CFMDB substitution exon 1 CFMDB_1474 CFTR:c.3236A>C CFMDB substitution exon 1 CFMDB_460 CFTR:c.3254A>G CFMDB substitution exon 1 CFMDB_1491 CFTR:c.4124A>C CFMDB substitution exon 1 CFMDB_1217 CFTR:c.416A>T CFMDB substitution exon 1 CFMDB_98 CFTR:c.416A>G CFMDB substitution exon 1 CFMDB_651 CFTR:c.437A>G CFMDB substitution exon 1 CFMDB_137 CFTR:c.597T>G CFMDB substitution exon 1 CFMDB_1296 CFTR:c.596A>G CFMDB substitution exon 1 CFMDB_136 CFTR:c.595C>T CFMDB substitution exon 1 CFMDB_966 CFTR:c.1451A>G CFMDB substitution exon 1 CFMDB_723 CFTR:c.1450C>T CFMDB substitution exon 1 CFMDB_1536 CFTR:c.1826A>T CFMDB substitution exon 1 CFMDB_754 CFTR:c.1826A>G CFMDB substitution exon 1 CFMDB_323 CFTR:c.1859A>C CFMDB substitution exon 1 CFMDB_668 CFTR:c.1860T>G CFMDB substitution exon 1 CFMDB_402 CFTR:c.2815C>G CFMDB substitution exon 1 CFMDB_707 CFTR:c.2816A>G CFMDB substitution exon 1 CFMDB_1489 CFTR:c.2846A>T CFMDB substitution exon 1 CFMDB_405 CFTR:c.2846A>G CFMDB substitution exon 1 CFMDB_404 CFTR:c.2845C>T CFMDB substitution exon 1 CFMDB_426 CFTR:c.3014T>G CFMDB substitution exon 1 CFMDB_1567 CFTR:c.3080T>C CFMDB substitution exon 1 CFMDB_1397 CFTR:c.3151A>G CFMDB substitution exon 1 CFMDB_1108 CFTR:c.314T>A CFMDB substitution exon 1 CFMDB_481 CFTR:c.3415A>G CFMDB substitution exon 1 CFMDB_1231 CFTR:c.355A>G CFMDB substitution exon 1 CFMDB_728 CFTR:c.3689T>C CFMDB substitution exon 1 CFMDB_628 CFTR:c.3700A>C CFMDB substitution exon 1 CFMDB_512 CFTR:c.3700A>G CFMDB substitution exon 1 CFMDB_882 CFTR:c.374T>C CFMDB substitution exon 1 CFMDB_536 CFTR:c.3806T>A CFMDB substitution exon 1 CFMDB_739 CFTR:c.396T>G CFMDB substitution exon 1 CFMDB_1160 CFTR:c.4097T>C CFMDB substitution exon 1 CFMDB_1479 CFTR:c.4193T>G CFMDB substitution exon 1 CFMDB_601 CFTR:c.443T>A CFMDB substitution exon 1 CFMDB_105 CFTR:c.443T>C CFMDB substitution exon 1 CFMDB_121 CFTR:c.523A>G CFMDB substitution exon 1 CFMDB_652 CFTR:c.530T>C CFMDB substitution exon 1 CFMDB_1438 CFTR:c.609C>G CFMDB substitution exon 1 CFMDB_1506 CFTR:c.853A>T CFMDB substitution exon 1 CFMDB_183 CFTR:c.1007T>A CFMDB substitution exon 1 CFMDB_1302 CFTR:c.1019T>A CFMDB substitution exon 1 CFMDB_995 CFTR:c.1331T>G CFMDB substitution exon 1 CFMDB_1638 CFTR:c.1331T>C CFMDB substitution exon 1 CFMDB_1326 CFTR:c.1489A>G CFMDB substitution exon 1 CFMDB_1223 CFTR:c.1505T>A CFMDB substitution exon 1 CFMDB_726 CFTR:c.1505T>C CFMDB substitution exon 1 CFMDB_851 CFTR:c.1516A>C CFMDB substitution exon 1 CFMDB_243 CFTR:c.1517T>G CFMDB substitution exon 1 CFMDB_244 CFTR:c.1517T>C CFMDB substitution exon 1 CFMDB_1021 CFTR:c.1516A>G CFMDB substitution exon 1 CFMDB_257 CFTR:c.1616T>C CFMDB substitution exon 1 CFMDB_275 CFTR:c.1666A>G CFMDB substitution exon 1 CFMDB_1578 CFTR:c.1756A>G CFMDB substitution exon 1 CFMDB_666 CFTR:c.1801A>T CFMDB substitution exon 1 CFMDB_321 CFTR:c.1853T>C CFMDB substitution exon 1 CFMDB_1425 CFTR:p.I752S CFMDB substitution exon 1 CFMDB_866 CFTR:c.2421A>G CFMDB substitution exon 1 CFMDB_1579 CFTR:c.2419A>G CFMDB substitution exon 1 CFMDB_1541 CFTR:c.2519T>C CFMDB substitution exon 1 CFMDB_1197 CFTR:c.2754T>G CFMDB substitution exon 1 CFMDB_414 CFTR:c.2939T>A CFMDB substitution exon 1 CFMDB_1625 CFTR:c.2940A>G CFMDB substitution exon 1 CFMDB_1100 CFTR:c.2971A>G CFMDB substitution exon 1 CFMDB_442 CFTR:c.3179A>C CFMDB substitution exon 1 CFMDB_1359 CFTR:c.3239A>G CFMDB substitution exon 1 CFMDB_1416 CFTR:c.340A>T CFMDB substitution exon 1 CFMDB_496 CFTR:c.3530A>G CFMDB substitution exon 1 CFMDB_1216 CFTR:c.3529A>T CFMDB substitution exon 1 CFMDB_1427 CFTR:p.K1302R CFMDB substitution exon 1 CFMDB_634 CFTR:c.4051A>G CFMDB substitution exon 1 CFMDB_12 CFTR:c.40A>T CFMDB substitution exon 1 CFMDB_798 CFTR:c.484A>G CFMDB substitution exon 1 CFMDB_119 CFTR:c.496A>G CFMDB substitution exon 1 CFMDB_1373 CFTR:c.1392G>T CFMDB substitution exon 1 CFMDB_1497 CFTR:c.1606A>T CFMDB substitution exon 1 CFMDB_1618 CFTR:c.1792A>T CFMDB substitution exon 1 CFMDB_1355 CFTR:c.190A>G CFMDB substitution exon 1 CFMDB_1102 CFTR:c.2048A>G CFMDB substitution exon 1 CFMDB_1609 CFTR:p.K688X CFMDB substitution exon 1 CFMDB_810 CFTR:c.202A>G CFMDB substitution exon 1 CFMDB_47 CFTR:c.204A>T CFMDB substitution exon 1 CFMDB_345 CFTR:c.2128A>T CFMDB substitution exon 1 CFMDB_346 CFTR:c.2145_2146delinsGT CFMDB complex exon 1 CFMDB_368 CFTR:c.2488A>T CFMDB substitution exon 1 CFMDB_616 CFTR:c.2836A>T CFMDB substitution exon 1 CFMDB_1352 CFTR:c.302T>C CFMDB substitution exon 1 CFMDB_593 CFTR:c.302T>G CFMDB substitution exon 1 CFMDB_1254 CFTR:c.305T>C CFMDB substitution exon 1 CFMDB_1485 CFTR:c.305T>G CFMDB substitution exon 1 CFMDB_777 CFTR:c.3177A>G CFMDB substitution exon 1 CFMDB_441 CFTR:c.3176T>G CFMDB substitution exon 1 CFMDB_801 CFTR:c.3193C>T CFMDB substitution exon 1 CFMDB_446 CFTR:c.3194T>C CFMDB substitution exon 1 CFMDB_447 CFTR:c.3194T>G CFMDB substitution exon 1 CFMDB_459 CFTR:c.3230T>C CFMDB substitution exon 1 CFMDB_594 CFTR:c.3278T>C CFMDB substitution exon 1 CFMDB_1110 CFTR:c.3287T>G CFMDB substitution exon 1 CFMDB_1640 CFTR:c.3468G>T CFMDB substitution exon 1 CFMDB_812 CFTR:c.3680T>C CFMDB substitution exon 1 CFMDB_529 CFTR:c.3761T>G CFMDB substitution exon 1 CFMDB_1327 CFTR:c.3779T>G CFMDB substitution exon 1 CFMDB_95 CFTR:c.380T>G CFMDB substitution exon 1 CFMDB_1377 CFTR:c.3971T>C CFMDB substitution exon 1 CFMDB_1580 CFTR:c.4003C>T CFMDB substitution exon 1 CFMDB_807 CFTR:c.4004T>C CFMDB substitution exon 1 CFMDB_1201 CFTR:c.4015C>T CFMDB substitution exon 1 CFMDB_611 CFTR:c.410T>A CFMDB substitution exon 1 CFMDB_649 CFTR:c.410T>C CFMDB substitution exon 1 CFMDB_732 CFTR:c.410T>G CFMDB substitution exon 1 CFMDB_685 CFTR:c.4163T>A CFMDB substitution exon 1 CFMDB_1622 CFTR:c.4162C>G CFMDB substitution exon 1 CFMDB_1547 CFTR:c.4241T>C CFMDB substitution exon 1 CFMDB_1473 CFTR:c.434T>A CFMDB substitution exon 1 CFMDB_1542 CFTR:c.4439T>C CFMDB substitution exon 1 CFMDB_1271 CFTR:c.476T>C CFMDB substitution exon 1 CFMDB_1132 CFTR:c.476T>A CFMDB substitution exon 1 CFMDB_1442 CFTR:c.44T>C CFMDB substitution exon 1 CFMDB_118 CFTR:c.494T>C CFMDB substitution exon 1 CFMDB_1466 CFTR:c.547C>A CFMDB substitution exon 1 CFMDB_725 CFTR:c.618G>T CFMDB substitution exon 1 CFMDB_139 CFTR:c.617T>G CFMDB substitution exon 1 CFMDB_1347 CFTR:c.629T>C CFMDB substitution exon 1 CFMDB_585 CFTR:c.653T>A CFMDB substitution exon 1 CFMDB_143 CFTR:c.680T>G CFMDB substitution exon 1 CFMDB_1402 CFTR:c.72G>C CFMDB substitution exon 1 CFMDB_1299 CFTR:c.877C>A CFMDB substitution exon 1 CFMDB_175 CFTR:c.960A>T CFMDB substitution exon 1 CFMDB_174 CFTR:c.958T>G CFMDB substitution exon 1 CFMDB_1228 CFTR:c.959T>A CFMDB substitution exon 1 CFMDB_177 CFTR:c.980T>G CFMDB substitution exon 1 CFMDB_189 CFTR:c.1037T>C CFMDB substitution exon 1 CFMDB_1125 CFTR:c.1094T>C CFMDB substitution exon 1 CFMDB_206 CFTR:c.1125A>C CFMDB substitution exon 1 CFMDB_1147 CFTR:c.1149G>A CFMDB substitution exon 1 CFMDB_710 CFTR:c.1148T>C CFMDB substitution exon 1 CFMDB_1375 CFTR:c.1643T>A CFMDB substitution exon 1 CFMDB_276 CFTR:c.1673T>C CFMDB substitution exon 1 CFMDB_627 CFTR:c.1704G>T CFMDB substitution exon 1 CFMDB_293 CFTR:c.1703T>A CFMDB substitution exon 1 CFMDB_298 CFTR:c.1712T>C CFMDB substitution exon 1 CFMDB_1643 CFTR:c.1781T>C CFMDB substitution exon 1 CFMDB_319 CFTR:c.1829T>C CFMDB substitution exon 1 CFMDB_322 CFTR:c.1856T>C CFMDB substitution exon 1 CFMDB_1465 CFTR:c.182T>C CFMDB substitution exon 1 CFMDB_1520 CFTR:c.1897C>A CFMDB substitution exon 1 CFMDB_326 CFTR:c.1898T>C CFMDB substitution exon 1 CFMDB_962 CFTR:c.1907T>C CFMDB substitution exon 1 CFMDB_347 CFTR:c.2156T>A CFMDB substitution exon 1 CFMDB_350 CFTR:c.2195T>G CFMDB substitution exon 1 CFMDB_1152 CFTR:c.2487A>G CFMDB substitution exon 1 CFMDB_705 CFTR:c.2600T>A CFMDB substitution exon 1 CFMDB_59 CFTR:c.263T>C CFMDB substitution exon 1 CFMDB_60 CFTR:c.263T>A CFMDB substitution exon 1 CFMDB_61 CFTR:c.263T>G CFMDB substitution exon 1 CFMDB_1133 CFTR:c.269T>C CFMDB substitution exon 1 CFMDB_401 CFTR:c.2780T>C CFMDB substitution exon 1 CFMDB_809 CFTR:c.2900T>C CFMDB substitution exon 1 CFMDB_672 CFTR:c.2916_2917delinsAT CFMDB complex exon 1 CFMDB_1445 CFTR:c.2918T>A CFMDB substitution exon 1 CFMDB_1141 CFTR:c.2918T>C CFMDB substitution exon 1 CFMDB_776 CFTR:c.2991G>C CFMDB substitution exon 1 CFMDB_584 CFTR:c.3084G>T CFMDB substitution exon 1 CFMDB_1169 CFTR:c.3083T>G CFMDB substitution exon 1 CFMDB_471 CFTR:c.3302T>A CFMDB substitution exon 1 CFMDB_472 CFTR:c.3302T>G CFMDB substitution exon 1 CFMDB_1315 CFTR:c.3314T>G CFMDB substitution exon 1 CFMDB_480 CFTR:c.3410T>G CFMDB substitution exon 1 CFMDB_1549 CFTR:c.3410T>C CFMDB substitution exon 1 CFMDB_479 CFTR:c.3409A>G CFMDB substitution exon 1 CFMDB_898 CFTR:c.3419T>A CFMDB substitution exon 1 CFMDB_508 CFTR:c.3630G>A CFMDB substitution exon 1 CFMDB_1399 CFTR:c.3629T>A CFMDB substitution exon 1 CFMDB_1378 CFTR:c.4220T>C CFMDB substitution exon 1 CFMDB_1524 CFTR:c.454A>T CFMDB substitution exon 1 CFMDB_979 CFTR:c.455T>G CFMDB substitution exon 1 CFMDB_108 CFTR:c.454A>G CFMDB substitution exon 1 CFMDB_7 CFTR:c.3G>A CFMDB substitution exon 1 CFMDB_8 CFTR:c.3G>T CFMDB substitution exon 1 CFMDB_6 CFTR:c.2T>A CFMDB substitution exon 1 CFMDB_1186 CFTR:c.2T>C CFMDB substitution exon 1 CFMDB_5 CFTR:c.1A>G CFMDB substitution exon 1 CFMDB_1013 CFTR:c.727A>C CFMDB substitution exon 1 CFMDB_148 CFTR:c.731T>A CFMDB substitution exon 1 CFMDB_156 CFTR:c.794T>G CFMDB substitution exon 1 CFMDB_1272 CFTR:c.842T>C CFMDB substitution exon 1 CFMDB_194 CFTR:c.1043T>A CFMDB substitution exon 1 CFMDB_1545 CFTR:c.1043T>C CFMDB substitution exon 1 CFMDB_1467 CFTR:c.1042A>G CFMDB substitution exon 1 CFMDB_1137 CFTR:c.1181T>G CFMDB substitution exon 1 CFMDB_1349 CFTR:p.M469V CFMDB substitution exon 1 CFMDB_1019 CFTR:c.1408A>G CFMDB substitution exon 1 CFMDB_1486 CFTR:c.1494G>C CFMDB substitution exon 1 CFMDB_1632 CFTR:c.1785G>A CFMDB substitution exon 1 CFMDB_1493 CFTR:c.1784T>C CFMDB substitution exon 1 CFMDB_1548 CFTR:c.244A>G CFMDB substitution exon 1 CFMDB_406 CFTR:c.2856G>C CFMDB substitution exon 1 CFMDB_1058 CFTR:c.2855T>C CFMDB substitution exon 1 CFMDB_1131 CFTR:c.2883G>T CFMDB substitution exon 1 CFMDB_855 CFTR:c.3262A>G CFMDB substitution exon 1 CFMDB_1630 CFTR:c.338A>T CFMDB substitution exon 1 CFMDB_1126 CFTR:c.3444C>A CFMDB substitution exon 1 CFMDB_1374 CFTR:c.3443A>G CFMDB substitution exon 1 CFMDB_1288 CFTR:p.N1195T CFMDB substitution exon 1 CFMDB_551 CFTR:c.3907A>C CFMDB substitution exon 1 CFMDB_553 CFTR:c.3908A>T CFMDB substitution exon 1 CFMDB_554 CFTR:c.3909C>G CFMDB substitution exon 1 CFMDB_700 CFTR:c.4296C>G CFMDB substitution exon 1 CFMDB_878 CFTR:c.558C>A CFMDB substitution exon 1 CFMDB_987 CFTR:c.561C>A CFMDB substitution exon 1 CFMDB_1482 CFTR:c.567C>A CFMDB substitution exon 1 CFMDB_1525 CFTR:c.566A>G CFMDB substitution exon 1 CFMDB_591 CFTR:c.859A>T CFMDB substitution exon 1 CFMDB_1538 CFTR:c.1247A>G CFMDB substitution exon 1 CFMDB_217 CFTR:c.1253A>G CFMDB substitution exon 1 CFMDB_45 CFTR:c.197A>G CFMDB substitution exon 1 CFMDB_1195 CFTR:c.2346C>A CFMDB substitution exon 1 CFMDB_1155 CFTR:c.2699A>C CFMDB substitution exon 1 CFMDB_1372 CFTR:c.3038C>A CFMDB substitution exon 1 CFMDB_583 CFTR:c.3038C>T CFMDB substitution exon 1 CFMDB_1263 CFTR:c.3061C>G CFMDB substitution exon 1 CFMDB_736 CFTR:c.3061C>T CFMDB substitution exon 1 CFMDB_963 CFTR:c.3215C>T CFMDB substitution exon 1 CFMDB_696 CFTR:c.331C>G CFMDB substitution exon 1 CFMDB_85 CFTR:c.332C>T CFMDB substitution exon 1 CFMDB_790 CFTR:c.3870A>G CFMDB substitution exon 1 CFMDB_1513 CFTR:c.3868C>T CFMDB substitution exon 1 CFMDB_1584 CFTR:c.3868C>A CFMDB substitution exon 1 CFMDB_792 CFTR:c.3918C>T CFMDB substitution exon 1 CFMDB_1507 CFTR:c.4115C>T CFMDB substitution exon 1 CFMDB_1353 CFTR:c.4114C>A CFMDB substitution exon 1 CFMDB_802 CFTR:c.419C>T CFMDB substitution exon 1 CFMDB_99 CFTR:c.418C>T CFMDB substitution exon 1 CFMDB_1297 CFTR:c.614C>G CFMDB substitution exon 1 CFMDB_138 CFTR:c.613C>T CFMDB substitution exon 1 CFMDB_1535 CFTR:c.1063C>T CFMDB substitution exon 1 CFMDB_1501 CFTR:c.1315C>T CFMDB substitution exon 1 CFMDB_661 CFTR:c.1495C>G CFMDB substitution exon 1 CFMDB_300 CFTR:c.1721C>A CFMDB substitution exon 1 CFMDB_1492 CFTR:c.1720C>T CFMDB substitution exon 1 CFMDB_11 CFTR:c.14C>T CFMDB substitution exon 1 CFMDB_46 CFTR:c.200C>T CFMDB substitution exon 1 CFMDB_1103 CFTR:c.2249C>T CFMDB substitution exon 1 CFMDB_1253 CFTR:c.2522C>G CFMDB substitution exon 1 CFMDB_75 CFTR:c.296C>T CFMDB substitution exon 1 CFMDB_1409 CFTR:c.3103C>T CFMDB substitution exon 1 CFMDB_1142 CFTR:c.3124C>T CFMDB substitution exon 1 CFMDB_1120 CFTR:c.3213G>T CFMDB substitution exon 1 CFMDB_456 CFTR:c.3212A>C CFMDB substitution exon 1 CFMDB_1357 CFTR:c.3211C>T CFMDB substitution exon 1 CFMDB_470 CFTR:c.3299A>C CFMDB substitution exon 1 CFMDB_484 CFTR:c.3430C>T CFMDB substitution exon 1 CFMDB_785 CFTR:c.3558A>G CFMDB substitution exon 1 CFMDB_602 CFTR:c.3556C>T CFMDB substitution exon 1 CFMDB_515 CFTR:c.3713A>G CFMDB substitution exon 1 CFMDB_514 CFTR:c.3712C>T CFMDB substitution exon 1 CFMDB_1623 CFTR:c.3803A>G CFMDB substitution exon 1 CFMDB_680 CFTR:c.3841C>T CFMDB substitution exon 1 CFMDB_544 CFTR:c.3873G>C CFMDB substitution exon 1 CFMDB_543 CFTR:c.3872A>G CFMDB substitution exon 1 CFMDB_1098 CFTR:c.3871C>T CFMDB substitution exon 1 CFMDB_1600 CFTR:c.3927G>T CFMDB substitution exon 1 CFMDB_683 CFTR:c.3937C>A CFMDB substitution exon 1 CFMDB_557 CFTR:c.3937C>T CFMDB substitution exon 1 CFMDB_1586 CFTR:c.4054C>G CFMDB substitution exon 1 CFMDB_564 CFTR:c.4056G>C CFMDB substitution exon 1 CFMDB_1446 CFTR:c.4056G>T CFMDB substitution exon 1 CFMDB_959 CFTR:c.4144C>T CFMDB substitution exon 1 CFMDB_574 CFTR:c.4231C>T CFMDB substitution exon 1 CFMDB_575 CFTR:c.4234C>T CFMDB substitution exon 1 CFMDB_1543 CFTR:c.4389G>T CFMDB substitution exon 1 CFMDB_1034 CFTR:c.4426C>T CFMDB substitution exon 1 CFMDB_1424 CFTR:p.Q151K CFMDB substitution exon 1 CFMDB_107 CFTR:c.451C>T CFMDB substitution exon 1 CFMDB_1079 CFTR:c.535C>A CFMDB substitution exon 1 CFMDB_140 CFTR:c.619C>T CFMDB substitution exon 1 CFMDB_894 CFTR:c.659A>G CFMDB substitution exon 1 CFMDB_141 CFTR:c.658C>T CFMDB substitution exon 1 CFMDB_145 CFTR:c.709C>G CFMDB substitution exon 1 CFMDB_160 CFTR:c.868C>T CFMDB substitution exon 1 CFMDB_9 CFTR:c.[4C>T(+)7A>T] CFMDB substitution exon 1 CFMDB_22 CFTR:c.88C>T CFMDB substitution exon 1 CFMDB_865 CFTR:c.1059A>C CFMDB substitution exon 1 CFMDB_1099 CFTR:c.1057C>T CFMDB substitution exon 1 CFMDB_197 CFTR:c.[1075C>A(+)1079C>A] CFMDB substitution exon 1 CFMDB_1146 CFTR:c.1076A>G CFMDB substitution exon 1 CFMDB_1261 CFTR:c.1133A>G CFMDB substitution exon 1 CFMDB_26 CFTR:c.115C>T CFMDB substitution exon 1 CFMDB_216 CFTR:c.1240C>T CFMDB substitution exon 1 CFMDB_841 CFTR:c.1355A>C CFMDB substitution exon 1 CFMDB_1256 CFTR:c.1478A>C CFMDB substitution exon 1 CFMDB_239 CFTR:c.1478A>G CFMDB substitution exon 1 CFMDB_237 CFTR:c.1477C>T CFMDB substitution exon 1 CFMDB_251 CFTR:c.1573C>T CFMDB substitution exon 1 CFMDB_596 CFTR:c.1654C>A CFMDB substitution exon 1 CFMDB_271 CFTR:c.1654C>T CFMDB substitution exon 1 CFMDB_637 CFTR:c.1900C>T CFMDB substitution exon 1 CFMDB_1044 CFTR:c.1909C>T CFMDB substitution exon 1 CFMDB_341 CFTR:c.2053C>T CFMDB substitution exon 1 CFMDB_1339 CFTR:c.2065C>T CFMDB substitution exon 1 CFMDB_1048 CFTR:c.2158C>T CFMDB substitution exon 1 CFMDB_745 CFTR:c.2341C>T CFMDB substitution exon 1 CFMDB_973 CFTR:c.2669A>G CFMDB substitution exon 1 CFMDB_391 CFTR:c.2668C>T CFMDB substitution exon 1 CFMDB_1214 CFTR:c.293A>C CFMDB substitution exon 1 CFMDB_74 CFTR:c.293A>G CFMDB substitution exon 1 CFMDB_73 CFTR:c.292C>T CFMDB substitution exon 1 CFMDB_1540 CFTR:c.3142A>G CFMDB substitution exon 1 CFMDB_448 CFTR:c.3196C>T CFMDB substitution exon 1 CFMDB_450 CFTR:c.3197G>A CFMDB substitution exon 1 CFMDB_451 CFTR:c.3197G>T CFMDB substitution exon 1 CFMDB_449 CFTR:c.3196C>A CFMDB substitution exon 1 CFMDB_589 CFTR:c.3209G>C CFMDB substitution exon 1 CFMDB_455 CFTR:c.3209G>A CFMDB substitution exon 1 CFMDB_454 CFTR:c.3208C>T CFMDB substitution exon 1 CFMDB_1435 CFTR:c.3304A>T CFMDB substitution exon 1 CFMDB_678 CFTR:c.3382A>T CFMDB substitution exon 1 CFMDB_491 CFTR:c.3472C>T CFMDB substitution exon 1 CFMDB_493 CFTR:c.3484C>T CFMDB substitution exon 1 CFMDB_88 CFTR:c.349C>T CFMDB substitution exon 1 CFMDB_1464 CFTR:c.349C>G CFMDB substitution exon 1 CFMDB_89 CFTR:c.350G>A CFMDB substitution exon 1 CFMDB_91 CFTR:c.350G>T CFMDB substitution exon 1 CFMDB_90 CFTR:c.350G>C CFMDB substitution exon 1 CFMDB_540 CFTR:c.3848G>A CFMDB substitution exon 1 CFMDB_541 CFTR:c.3848G>T CFMDB substitution exon 1 CFMDB_1159 CFTR:c.4074A>T CFMDB substitution exon 1 CFMDB_814 CFTR:c.4264C>T CFMDB substitution exon 1 CFMDB_1406 CFTR:c.4312C>T CFMDB substitution exon 1 CFMDB_1014 CFTR:c.4357C>T CFMDB substitution exon 1 CFMDB_120 CFTR:c.508C>T CFMDB substitution exon 1 CFMDB_868 CFTR:c.508C>G CFMDB substitution exon 1 CFMDB_1183 CFTR:c.509G>A CFMDB substitution exon 1 CFMDB_820 CFTR:c.743G>C CFMDB substitution exon 1 CFMDB_154 CFTR:c.772A>G CFMDB substitution exon 1 CFMDB_163 CFTR:c.890G>A CFMDB substitution exon 1 CFMDB_749 CFTR:c.889C>T CFMDB substitution exon 1 CFMDB_860 CFTR:c.91C>T CFMDB substitution exon 1 CFMDB_23 CFTR:c.92G>T CFMDB substitution exon 1 CFMDB_632 CFTR:c.1001G>T CFMDB substitution exon 1 CFMDB_181 CFTR:c.1001G>A CFMDB substitution exon 1 CFMDB_180 CFTR:c.1000C>T CFMDB substitution exon 1 CFMDB_190 CFTR:c.1039C>T CFMDB substitution exon 1 CFMDB_191 CFTR:c.1040G>A CFMDB substitution exon 1 CFMDB_192 CFTR:c.1040G>T CFMDB substitution exon 1 CFMDB_193 CFTR:c.1040G>C CFMDB substitution exon 1 CFMDB_1346 CFTR:c.1054C>G CFMDB substitution exon 1 CFMDB_196 CFTR:c.1055G>A CFMDB substitution exon 1 CFMDB_605 CFTR:c.1054C>T CFMDB substitution exon 1 CFMDB_1268 CFTR:c.1546A>G CFMDB substitution exon 1 CFMDB_272 CFTR:c.1657C>G CFMDB substitution exon 1 CFMDB_274 CFTR:c.1658G>A CFMDB substitution exon 1 CFMDB_273 CFTR:c.1657C>T CFMDB substitution exon 1 CFMDB_991 CFTR:c.1663A>G CFMDB substitution exon 1 CFMDB_1494 CFTR:c.164G>A CFMDB substitution exon 1 CFMDB_1274 CFTR:c.1678A>G CFMDB substitution exon 1 CFMDB_279 CFTR:c.1679G>A CFMDB substitution exon 1 CFMDB_285 CFTR:c.1680A>C CFMDB substitution exon 1 CFMDB_280 CFTR:c.1679G>C CFMDB substitution exon 1 CFMDB_753 CFTR:c.1798A>G CFMDB substitution exon 1 CFMDB_764 CFTR:c.2002C>T CFMDB substitution exon 1 CFMDB_1285 CFTR:c.2126G>A CFMDB substitution exon 1 CFMDB_344 CFTR:c.2125C>T CFMDB substitution exon 1 CFMDB_1222 CFTR:c.2204G>A CFMDB substitution exon 1 CFMDB_1082 CFTR:c.221G>A CFMDB substitution exon 1 CFMDB_49 CFTR:c.220C>T CFMDB substitution exon 1 CFMDB_1307 CFTR:c.2252G>C CFMDB substitution exon 1 CFMDB_51 CFTR:c.224G>T CFMDB substitution exon 1 CFMDB_1004 CFTR:c.224G>A CFMDB substitution exon 1 CFMDB_50 CFTR:c.223C>T CFMDB substitution exon 1 CFMDB_353 CFTR:c.2290C>T CFMDB substitution exon 1 CFMDB_355 CFTR:c.2297G>T CFMDB substitution exon 1 CFMDB_356 CFTR:c.2353C>T CFMDB substitution exon 1 CFMDB_358 CFTR:c.2374C>G CFMDB substitution exon 1 CFMDB_357 CFTR:c.2374C>T CFMDB substitution exon 1 CFMDB_1221 CFTR:c.2428A>G CFMDB substitution exon 1 CFMDB_670 CFTR:c.2552G>T CFMDB substitution exon 1 CFMDB_374 CFTR:c.2551C>T CFMDB substitution exon 1 CFMDB_1340 CFTR:c.2797A>G CFMDB substitution exon 1 CFMDB_619 CFTR:c.2799A>T CFMDB substitution exon 1 CFMDB_80 CFTR:c.323C>T CFMDB substitution exon 1 CFMDB_872 CFTR:c.28A>C CFMDB substitution exon 1 CFMDB_993 CFTR:c.3353C>G CFMDB substitution exon 1 CFMDB_897 CFTR:c.3353C>T CFMDB substitution exon 1 CFMDB_1158 CFTR:c.3476C>T CFMDB substitution exon 1 CFMDB_492 CFTR:c.3475T>C CFMDB substitution exon 1 CFMDB_1317 CFTR:p.S1161R CFMDB substitution exon 1 CFMDB_502 CFTR:c.3587C>G CFMDB substitution exon 1 CFMDB_623 CFTR:c.3617C>G CFMDB substitution exon 1 CFMDB_1440 CFTR:c.3617C>A CFMDB substitution exon 1 CFMDB_513 CFTR:c.3705T>G CFMDB substitution exon 1 CFMDB_528 CFTR:c.3752G>A CFMDB substitution exon 1 CFMDB_698 CFTR:c.3764C>T CFMDB substitution exon 1 CFMDB_530 CFTR:c.3763T>C CFMDB substitution exon 1 CFMDB_531 CFTR:c.[3764C>A(+)3607A>G] CFMDB substitution exon 1 CFMDB_1323 CFTR:p.S1311R CFMDB substitution exon 1 CFMDB_640 CFTR:c.38C>T CFMDB substitution exon 1 CFMDB_1276 CFTR:c.4277C>T CFMDB substitution exon 1 CFMDB_1161 CFTR:c.4276T>C CFMDB substitution exon 1 CFMDB_579 CFTR:c.4364C>G CFMDB substitution exon 1 CFMDB_1644 CFTR:c.473G>A CFMDB substitution exon 1 CFMDB_1188 CFTR:c.472A>C CFMDB substitution exon 1 CFMDB_1613 CFTR:c.473G>C CFMDB substitution exon 1 CFMDB_1512 CFTR:c.52A>G CFMDB substitution exon 1 CFMDB_832 CFTR:c.920G>A CFMDB substitution exon 1 CFMDB_1483 CFTR:c.938C>A CFMDB substitution exon 1 CFMDB_1405 CFTR:c.961T>C CFMDB substitution exon 1 CFMDB_1477 CFTR:c.1021T>C CFMDB substitution exon 1 CFMDB_202 CFTR:c.1090T>C CFMDB substitution exon 1 CFMDB_27 CFTR:c.125C>T CFMDB substitution exon 1 CFMDB_1546 CFTR:c.1291A>G CFMDB substitution exon 1 CFMDB_813 CFTR:c.1301C>G CFMDB substitution ex