BGMUT_10 alias A201 intronic BGMUT_10 commonName A201 BGMUT_10 phenoCommon A2 BGMUT_100 commonName Aw07 BGMUT_100 phenoCommon Aw BGMUT_100 protEffect P156L; R198W; 354fs + 21aa BGMUT_101 commonName Aw08 BGMUT_101 phenoCommon Aw BGMUT_101 protEffect P74S; T163M; R176G; G268R BGMUT_103 commonName Ael01 BGMUT_103 phenoCommon Ael BGMUT_103 protEffect 269fs BGMUT_104 commonName Ael02 BGMUT_104 phenoCommon Ael BGMUT_104 protEffect P156L; F216I BGMUT_105 alias Aelvar BGMUT_105 commonName Ael03 BGMUT_105 phenoCommon Ael BGMUT_105 protEffect 269fs BGMUT_106 commonName Ael04 BGMUT_106 phenoCommon Ael BGMUT_106 protEffect no full transcript; alternatively spliced fragments BGMUT_107 commonName Ael05 BGMUT_107 phenoCommon Ael BGMUT_107 protEffect P156L; I256T BGMUT_108 alias A112 BGMUT_108 commonName Am01 BGMUT_108 phenoCommon Am BGMUT_108 protEffect P156L A254V BGMUT_109 commonName Am02 BGMUT_109 phenoCommon Am BGMUT_109 protEffect V222M BGMUT_11 commonName A202 BGMUT_11 phenoCommon A2 BGMUT_11 protEffect R352W BGMUT_110 commonName cis-AB01 BGMUT_110 phenoCommon cisAB BGMUT_110 protEffect P156L; G268A BGMUT_111 commonName cis-AB02 BGMUT_111 phenoCommon cisAB BGMUT_111 protEffect R176G; G235S; G268A BGMUT_112 commonName cis-AB03 BGMUT_112 phenoCommon cisAB BGMUT_112 protEffect R176G; P234A; G235S; L266M; G268A; BGMUT_113 commonName cis-AB04 BGMUT_113 phenoCommon cisAB BGMUT_113 protEffect P156L; L266M BGMUT_114 commonName B301 BGMUT_114 phenoCommon B3 BGMUT_114 protEffect R176G; G235S; L266M; G268A; R352W BGMUT_115 commonName B302 BGMUT_115 phenoCommon B3 BGMUT_115 protEffect R176G; F216I; G235S; L266M; G268A BGMUT_117 commonName B304 BGMUT_117 phenoCommon B3 BGMUT_117 protEffect D83Y; R176G; G235S; L266M; G268A BGMUT_118 commonName B(A)01 BGMUT_118 phenoCommon B(A) BGMUT_118 protEffect R176G; L266M; G268A BGMUT_119 commonName B(A)02 BGMUT_119 phenoCommon B(A) BGMUT_119 protEffect R176G; P234A; G235S; L266M; G268A; BGMUT_12 commonName A203 BGMUT_12 phenoCommon A2 BGMUT_12 protEffect R352G BGMUT_120 alias B(A)var BGMUT_120 commonName B(A)03 BGMUT_120 phenoCommon B(A) BGMUT_120 protEffect R176G; L266M; G268A BGMUT_121 alias B104 BGMUT_121 commonName Bx01 BGMUT_121 phenoCommon Bx BGMUT_121 protEffect R176G; G235S; L266M; G268A; D291N BGMUT_122 alias B105 BGMUT_122 commonName Bel01 BGMUT_122 phenoCommon Bel. very low B antigen expression BGMUT_122 protEffect R176G; M214R; G235S; L266M; G268A BGMUT_123 alias B106 BGMUT_123 commonName Bel02 BGMUT_123 phenoCommon Bel BGMUT_123 protEffect R176; E223D; G235S; L266M; G268A BGMUT_124 commonName Bel03 BGMUT_124 phenoCommon Bel BGMUT_124 protEffect R168W; R176G; G235S; L266M; G268A BGMUT_125 commonName Bel04 BGMUT_125 phenoCommon Bel BGMUT_125 protEffect P156L; F216I; L266M; G268A; V277M BGMUT_126 commonName Bw02 BGMUT_126 phenoCommon Bw BGMUT_126 protEffect R176G; G235S; L266M; G268A; D291E BGMUT_127 commonName Bw03 BGMUT_127 phenoCommon Bw BGMUT_127 protEffect R176G; G235S; R241W; L266M; G268A BGMUT_128 commonName Bw04 BGMUT_128 phenoCommon Bw BGMUT_128 protEffect R176G; D183G; G235S; R241W; L266M; G268A BGMUT_129 commonName Bw05 BGMUT_129 phenoCommon Bw BGMUT_129 protEffect R176GR180H; G235S; L266M; G268A BGMUT_13 commonName A204 BGMUT_13 phenoCommon A2 BGMUT_13 protEffect R176G; G235S; V277M BGMUT_130 commonName Bw06 BGMUT_130 phenoCommon Bw BGMUT_130 protEffect R176G; G235S; L266M; G268A; K346E BGMUT_131 commonName Bw07 BGMUT_131 phenoCommon Bw BGMUT_131 protEffect R176G; G235S; L266M; G268A; R352Q BGMUT_132 commonName Bw08 BGMUT_132 phenoCommon Bw BGMUT_132 protEffect R176G; G235S; L266M; G268A; M288R BGMUT_133 commonName Bw09 BGMUT_133 phenoCommon Bw BGMUT_133 protEffect R176G; G235S; L266M; K346M BGMUT_134 commonName Bw10 BGMUT_134 protEffect R176G; M186V; G235S; L266M; G268A BGMUT_136 commonName C4A*1 BGMUT_136 phenoCommon Chi 3, 4, 5, 6; Rg - BGMUT_136 protEffect D1054G; N1157S; V1188A; L1191R; BGMUT_137 commonName C4A*3(WH) BGMUT_137 phenoCommon Ch6; Rg1 BGMUT_137 protEffect N1157S BGMUT_139 commonName C4B*1 BGMUT_139 phenoCommon Ch1, 2, 4, 5; Rg1 BGMUT_139 protEffect S1157N BGMUT_14 commonName A205 BGMUT_14 phenoCommon A2 BGMUT_14 protEffect P156L; R337G BGMUT_140 commonName C4B*2 BGMUT_140 phenoCommon Ch1, 3, 5, 6; Rg- BGMUT_140 protEffect G1054D BGMUT_141 commonName C4B*5 BGMUT_141 phenoCommon Ch4, 6; Rg1 BGMUT_141 protEffect G1054D; A1188V; R1191V; BGMUT_143 commonName AQP1-2 BGMUT_143 phenoCommon CO2; CO3; Co(a-,b+) BGMUT_143 protEffect A45V BGMUT_144 commonName AQP1-n1 BGMUT_144 phenoCommon Co(a-,b-) BGMUT_144 protEffect deletion of exon 1 encoded aa BGMUT_145 commonName AQP1-n2 BGMUT_145 phenoCommon Co(a-,b-) BGMUT_145 protEffect G107fs BGMUT_146 commonName AQP1-n3 BGMUT_146 phenoCommon Co(a-,b-) BGMUT_146 protEffect P38L BGMUT_147 commonName AQP1-n4 BGMUT_147 phenoCommon Co(a-,b-) BGMUT_147 protEffect N192K BGMUT_148 commonName AQP1-n5 BGMUT_148 phenoCommon Co(a-,b-) BGMUT_148 protEffect 78fs BGMUT_149 commonName AQP1-n6 BGMUT_149 protEffect Q47R BGMUT_15 commonName A206 BGMUT_15 phenoCommon A2 BGMUT_15 protEffect 354fs + 21aa BGMUT_151 alias DAF 679C BGMUT_151 commonName DAF Cr(a-) BGMUT_151 phenoCommon Cr(a-) BGMUT_151 protEffect A227P BGMUT_152 alias DAF 155T BGMUT_152 commonName DAF Tc-b BGMUT_152 phenoCommon Tc-b BGMUT_152 protEffect R52L BGMUT_153 alias DAF 155C BGMUT_153 commonName DAF Tc-c BGMUT_153 phenoCommon Tc-c BGMUT_153 protEffect R52P BGMUT_155 alias DAF 239A BGMUT_155 commonName DAF Es(a-) BGMUT_155 phenoCommon Es(a-) BGMUT_155 protEffect I80N BGMUT_156 alias DAF 261A BGMUT_156 commonName DAF IFC- BGMUT_156 phenoCommon null; Inab- BGMUT_156 protEffect W87X BGMUT_157 alias DAF 263A BGMUT_157 commonName DAF IFC- BGMUT_157 phenoCommon null; Inab- BGMUT_157 protEffect S88X BGMUT_158 alias DAF 245T BGMUT_158 commonName DAF WES-a BGMUT_158 phenoCommon WES-a BGMUT_158 protEffect L82R BGMUT_159 alias DAF 749T BGMUT_159 commonName DAF UMC- BGMUT_159 phenoCommon UMC- BGMUT_159 protEffect T250M BGMUT_16 commonName A207 BGMUT_16 phenoCommon A2 BGMUT_16 protEffect R180P BGMUT_160 alias DAF 719A BGMUT_160 commonName DAF GUTI- BGMUT_160 phenoCommon GUT1- BGMUT_160 protEffect R240H BGMUT_161 alias DAF 647T BGMUT_161 commonName DAF SERF- BGMUT_161 phenoCommon SERF- BGMUT_161 protEffect P216L BGMUT_162 alias DAF 726G BGMUT_162 commonName DAF Zena (CROM13) BGMUT_162 phenoCommon Zena- BGMUT_162 protEffect H242Q BGMUT_164 alias DO 378T; 624C; 793G BGMUT_164 commonName DOB BGMUT_164 phenoCommon DOb BGMUT_164 protEffect Y126Y; L208L; N265D BGMUT_165 alias DO 323T, 378T BGMUT_165 commonName DO HY BGMUT_165 phenoCommon Hy + BGMUT_165 protEffect G108V BGMUT_166 alias DO 350T, 378T BGMUT_166 commonName DO JO BGMUT_166 phenoCommon Jo(a -) BGMUT_166 protEffect T117I BGMUT_167 alias DO intron 1 3'G BGMUT_167 commonName DO GY1 BGMUT_167 phenoCommon Donull; Gy(a-) BGMUT_167 protEffect DOB exon 2 del BGMUT_168 alias DO intron 1 5'C BGMUT_168 commonName DO GY4 BGMUT_168 phenoCommon Donull; Gy(a-) BGMUT_168 protEffect DOB exon 2 del BGMUT_169 alias DO 442T BGMUT_169 commonName DO GY5 BGMUT_169 phenoCommon Donull; Gy(a-) BGMUT_169 protEffect Q148X BGMUT_17 alias B101 exonic BGMUT_17 commonName B101 BGMUT_17 phenoCommon B BGMUT_17 protEffect R176G; G235S; L266M; G268A BGMUT_170 commonName DO 343-350del BGMUT_170 phenoCommon Donull; Gy(a-) BGMUT_170 protEffect 114 fs + X BGMUT_171 alias DO 323T, 898G BGMUT_171 commonName DO HY1 BGMUT_171 phenoCommon Hy- BGMUT_171 protEffect G108V; N265D; L300V BGMUT_172 alias DO 323T BGMUT_172 commonName DO HY2 BGMUT_172 phenoCommon Hy- BGMUT_172 protEffect G108V; N265D; BGMUT_174 commonName SLC4A1 - DIa BGMUT_174 phenoCommon DIa (Memphis neg) BGMUT_174 protEffect P854L BGMUT_175 commonName SLC4A1 - Memphis-DIb BGMUT_175 phenoCommon DIb BGMUT_175 protEffect K56E BGMUT_176 commonName SLC4A1 - Memphis-DIa BGMUT_176 phenoCommon DIa BGMUT_176 protEffect K56E; P854L BGMUT_177 commonName SLC4A1 - Tuscaloosa BGMUT_177 protEffect K56E; P327R BGMUT_178 commonName SLC4A1 - Montefiore BGMUT_178 protEffect E40K BGMUT_179 commonName SLC4A1 - Foggia BGMUT_179 protEffect 54-55fs BGMUT_18 alias B101 intronic BGMUT_18 commonName B101 BGMUT_18 phenoCommon B BGMUT_18 protEffect none BGMUT_180 commonName SLC4A1 - Kagoshima BGMUT_180 protEffect 56fs BGMUT_181 commonName SLC4A1 - Hodonin BGMUT_181 protEffect W81X BGMUT_182 commonName SLC4A1 - Cape Town BGMUT_182 protEffect E90K BGMUT_183 commonName SLC4A1 - Napoli I BGMUT_183 protEffect 99-100fs BGMUT_184 commonName SLC4A1 - Fukayama I BGMUT_184 protEffect 112-113fs BGMUT_185 commonName SLC4A1 - Nachod BGMUT_185 protEffect 117-121del GTVLL BGMUT_186 commonName SLC4A1 - Fukoka BGMUT_186 protEffect G130R BGMUT_187 commonName SLC4A1 - Osnabruck I BGMUT_187 protEffect R150X BGMUT_188 commonName SLC4A1 - Worcester BGMUT_188 protEffect 172-173fs BGMUT_189 commonName SLC4A1 - Fukayama II BGMUT_189 protEffect 183fs BGMUT_19 commonName B101 var1 BGMUT_19 phenoCommon B BGMUT_19 protEffect R176G; G235S; L266M; G268A BGMUT_190 commonName SLC4A1 - Campinas BGMUT_190 protEffect 203fs BGMUT_191 commonName SLC4A1 - Bohain BGMUT_191 protEffect 241fs BGMUT_192 commonName SLC4A1 - Princeton BGMUT_192 protEffect 273-275fs BGMUT_193 commonName SLC4A1 - Boston BGMUT_193 protEffect A285D BGMUT_194 commonName SLC4A1 - Noirterre BGMUT_194 protEffect Q330X BGMUT_195 commonName SLC4A1 - Bruggen BGMUT_195 protEffect 419fs BGMUT_196 commonName SLC4A1 - Benesov BGMUT_196 protEffect G455E BGMUT_197 commonName SLC4A1 - Bicetre II BGMUT_197 protEffect 456fs BGMUT_198 commonName SLC4A1 - Pribram BGMUT_198 protEffect 477fs BGMUT_199 commonName SLC4A1 - Coimbra BGMUT_199 protEffect V488M BGMUT_20 commonName B102 BGMUT_20 phenoCommon B BGMUT_20 protEffect R176G; G235S L266M; G268A BGMUT_200 commonName SLC4A1 - Bicetre I BGMUT_200 protEffect R490C BGMUT_201 commonName SLC4A1 - Evry BGMUT_201 protEffect 492fs BGMUT_202 commonName SLC4A1 - Milano BGMUT_202 protEffect 498ins, 23 residues BGMUT_203 commonName SLC4A1 - Dresden BGMUT_203 protEffect R518C BGMUT_204 commonName SLC4A1 - Smichov BGMUT_204 protEffect 616fs BGMUT_205 commonName SLC4A1 - Trutnov BGMUT_205 protEffect Y628X BGMUT_206 commonName SLC4A1 - Hobart BGMUT_206 protEffect 646-647fs BGMUT_207 commonName SLC4A1 - Osnabruck II BGMUT_207 protEffect 663-664fs BGMUT_208 commonName SLC4A1 - Most BGMUT_208 protEffect P707L BGMUT_209 commonName SLC4A1 - Okinawa BGMUT_209 protEffect G714R BGMUT_21 commonName B103 BGMUT_21 phenoCommon B BGMUT_21 protEffect R176G; G235S L266M; G268A BGMUT_210 commonName SLC4A1 - Prague II BGMUT_210 protEffect R760Q BGMUT_211 alias SCLCA1 2278T BGMUT_211 commonName SLC4A1 - Hradec Kralove BGMUT_211 protEffect R760W BGMUT_212 commonName SLC4A1 - Chur BGMUT_212 protEffect G771D BGMUT_213 commonName SLC4A1 - Napoli II BGMUT_213 protEffect I783N BGMUT_214 commonName SLC4A1 - Jablonec BGMUT_214 protEffect R808C BGMUT_215 commonName SLC4A1 - Nara BGMUT_215 protEffect R808H BGMUT_216 commonName SLC4A1 - Prague I BGMUT_216 protEffect 822fs BGMUT_217 commonName SLC4A1 - Birmingham BGMUT_217 protEffect H834P BGMUT_218 commonName SLC4A1 - Philadelphia BGMUT_218 protEffect T837M BGMUT_219 commonName SLC4A1 - Tokyo BGMUT_219 protEffect T837A BGMUT_22 commonName B107 BGMUT_22 phenoCommon B BGMUT_22 protEffect R176G G235S L266M G268A BGMUT_220 commonName SLC4A1 - HT BGMUT_220 protEffect P868L BGMUT_221 commonName SLC4A1 - Prague III BGMUT_221 protEffect R870W BGMUT_222 commonName SLC4A1 - Vesuvio BGMUT_222 protEffect 984fs BGMUT_223 commonName SLC4A1 - SAO BGMUT_223 protEffect K56E; del400-408 BGMUT_224 commonName SLC4A1 - dRTA1 BGMUT_224 protEffect R589H BGMUT_225 commonName SLC4A1 - dRTA2(1765T) BGMUT_225 protEffect R589C BGMUT_226 commonName SLC4A1 - dRTA2(1765A) BGMUT_226 protEffect R589S BGMUT_227 commonName SLC4A1 - dRTA2(2703del) BGMUT_227 protEffect del901-911 BGMUT_228 commonName SLC4A1 - dRTA3 BGMUT_228 protEffect S613F BGMUT_229 commonName SLC4A1 - dRTA4 BGMUT_229 protEffect M31T; K56E; G701D BGMUT_23 alias O01 exonic BGMUT_23 commonName O01 BGMUT_23 phenoCommon O BGMUT_23 protEffect 88fs + truncation BGMUT_230 commonName SLC4A1 - dRTA5 BGMUT_230 protEffect A858D BGMUT_231 commonName SLC4A1 - dRTA6 BGMUT_231 protEffect 850delV BGMUT_232 commonName SLC4A1 - dRTA6 BGMUT_232 protEffect G701D BGMUT_233 commonName SLC4A1 - Wra BGMUT_233 phenoCommon Wra BGMUT_233 protEffect E658K BGMUT_234 commonName SLC4A1 - Wda BGMUT_234 phenoCommon Wda BGMUT_234 protEffect V557M BGMUT_235 commonName SLC4A1 - Rba BGMUT_235 phenoCommon Rba BGMUT_235 protEffect P548L BGMUT_236 commonName SLC4A1 - WARR BGMUT_236 protEffect T552I BGMUT_237 commonName SLC4A1 - ELO BGMUT_237 phenoCommon ELO BGMUT_237 protEffect R432W BGMUT_238 commonName SLC4A1 - Wu BGMUT_238 phenoCommon Wu BGMUT_238 protEffect G565A BGMUT_239 commonName SLC4A1 - Bpa BGMUT_239 phenoCommon Bpa BGMUT_239 protEffect N569K BGMUT_24 alias O01 intronic BGMUT_24 commonName O01 BGMUT_24 phenoCommon O BGMUT_240 commonName SLC4A1 - Moa BGMUT_240 phenoCommon Moa BGMUT_240 protEffect R656H BGMUT_241 commonName SLC4A1 - Hga BGMUT_241 phenoCommon Hga BGMUT_241 protEffect R656C BGMUT_242 commonName SLC4A1 - Vga BGMUT_242 protEffect Y555H BGMUT_243 commonName SLC4A1 - Swa1 BGMUT_243 phenoCommon Swa BGMUT_243 protEffect R646Q BGMUT_244 commonName SLC4A1 - Swa2 BGMUT_244 phenoCommon Swa BGMUT_244 protEffect R646W BGMUT_245 commonName SLC4A1 - BOW BGMUT_245 phenoCommon BOW BGMUT_245 protEffect P561S BGMUT_246 commonName SLC4A1 - NFLD BGMUT_246 phenoCommon NFLD BGMUT_246 protEffect E429D; P561A BGMUT_247 commonName SLC4A1 - Jna BGMUT_247 phenoCommon Jna BGMUT_247 protEffect P566S BGMUT_248 commonName SLC4A1 - KREP BGMUT_248 phenoCommon KREP BGMUT_248 protEffect P566A BGMUT_249 commonName SLC4A1 - Tra BGMUT_249 phenoCommon Tra BGMUT_249 protEffect K551N BGMUT_25 commonName O011 BGMUT_25 phenoCommon O BGMUT_250 commonName SLC4A1 - Fra BGMUT_250 phenoCommon Fra BGMUT_250 protEffect E480K BGMUT_251 alias FYA 125G BGMUT_251 commonName FYA BGMUT_251 phenoCommon FY(a+b-) BGMUT_251 protEffect D42G BGMUT_253 alias FYB -33C BGMUT_253 commonName FYB ES BGMUT_253 phenoCommon FY(a-b-) BGMUT_253 protEffect protein is not expressed in erythroid cells. BGMUT_254 alias FYB 298A BGMUT_254 commonName FYB 1 BGMUT_254 phenoCommon FY(a-b+) BGMUT_254 protEffect A100T BGMUT_255 alias FYB 265T, 298A BGMUT_255 commonName FYB 2; FYBWK BGMUT_255 phenoCommon FY(a-b+wk) BGMUT_255 protEffect R89C; A100T BGMUT_256 alias FYB 145T, 298A BGMUT_256 commonName FYB 3 BGMUT_256 phenoCommon FY(a-b+wk) BGMUT_256 protEffect A49S; R89C; A100T BGMUT_257 alias FYA 281-295del BGMUT_257 commonName FYAO (AZ) BGMUT_257 phenoCommon FY(a-b-) BGMUT_257 protEffect putative truncated protein of 118 residues BGMUT_258 alias FYA 293A BGMUT_258 commonName FYAO (Ye) BGMUT_258 phenoCommon FY(a-b-) BGMUT_258 protEffect W98X BGMUT_259 alias FYA 413A BGMUT_259 commonName FYAO(NE) BGMUT_259 phenoCommon FY(a-b-) BGMUT_259 protEffect W138X BGMUT_26 alias O02 exonic BGMUT_26 commonName O02 BGMUT_26 phenoCommon O BGMUT_26 protEffect V36F; R63H; P74S; 88fs + truncation BGMUT_260 alias FYB 413A BGMUT_260 commonName FYBO (patient 2) BGMUT_260 phenoCommon FY(a-b-) BGMUT_260 protEffect W138X BGMUT_261 alias FYA 414A BGMUT_261 commonName FYAO (patient 3) BGMUT_261 phenoCommon FY(a-b-) BGMUT_261 protEffect W138X BGMUT_263 commonName GYPC -2 BGMUT_263 phenoCommon Ge:-2,3,4 (Yus type) BGMUT_263 protEffect altered GPC BGMUT_264 commonName GYPC -2-3+4 BGMUT_264 phenoCommon Ge:-2,-2,4 (Gerbich type) BGMUT_264 protEffect altered GPC BGMUT_266 alias GYPC -2-3-4 BGMUT_266 commonName LN BGMUT_266 phenoCommon Ge:-2,-3,-4; (Leach LN type) BGMUT_266 protEffect W44L 45fs; 55X BGMUT_267 alias Webb; GYPC-5 BGMUT_267 commonName Wb BGMUT_267 phenoCommon Wb (Webb) BGMUT_267 protEffect N8S BGMUT_269 alias GYPC-7; GYPC 67T BGMUT_269 commonName Ana BGMUT_269 phenoCommon Ana BGMUT_269 protEffect A2S in GPD BGMUT_27 alias O02 intronic BGMUT_27 commonName O02 BGMUT_27 phenoCommon O BGMUT_27 protEffect none BGMUT_270 alias GYPC-8; GYPC 40T BGMUT_270 commonName Dha BGMUT_270 phenoCommon Dha (Duch) BGMUT_270 protEffect L14F BGMUT_272 commonName AQP3 delta 5, French, USA BGMUT_272 protEffect exon 5 skipped; fs BGMUT_274 alias FUT1 349T BGMUT_274 commonName Reunion Island BGMUT_274 phenoCommon Reunion BGMUT_274 protEffect H117Y BGMUT_275 alias FUT1 442T BGMUT_275 commonName h4 (Japan) BGMUT_275 phenoCommon para-Bombay BGMUT_275 protEffect D148Y BGMUT_276 alias FUT1 460C, 1042A BGMUT_276 commonName h5 (Japan) BGMUT_276 phenoCommon para-Bombay BGMUT_276 protEffect Y154H; E348K BGMUT_277 alias FUT1 460C BGMUT_277 commonName h5 (Taiwan) BGMUT_277 phenoCommon para-Bombay BGMUT_277 protEffect Y154H BGMUT_278 alias FUT1 461G BGMUT_278 commonName Europe 1 BGMUT_278 phenoCommon Bombay BGMUT_278 protEffect Y154C BGMUT_279 alias FUT1 462A BGMUT_279 commonName h6 (Japan) BGMUT_279 phenoCommon Bombay BGMUT_279 protEffect Y154X BGMUT_28 alias O03 exonic BGMUT_28 commonName O03 BGMUT_28 phenoCommon O BGMUT_28 protEffect P74S; R176G; G268R BGMUT_280 alias USA1 BGMUT_280 commonName FUT1 491A BGMUT_280 phenoCommon para-Bombay BGMUT_280 protEffect L164H BGMUT_281 alias FUT1 513C BGMUT_281 commonName Europe 2 BGMUT_281 phenoCommon Bombay BGMUT_281 protEffect W171C BGMUT_282 alias FUT1 522A BGMUT_282 commonName China BGMUT_282 phenoCommon para-Bombay BGMUT_282 protEffect F174L BGMUT_283 alias FUT1 547delAG BGMUT_283 commonName h1 (Taiwan) BGMUT_283 phenoCommon para-Bombay BGMUT_283 protEffect 182fs BGMUT_284 alias FUT1 658T BGMUT_284 commonName h3 (Taiwan) BGMUT_284 phenoCommon para-Bombay BGMUT_284 protEffect R220C BGMUT_285 alias FUT1 695A BGMUT_285 commonName h1 (Japan) BGMUT_285 phenoCommon Bombay BGMUT_285 protEffect W232X BGMUT_286 alias FUT1 721C BGMUT_286 commonName h3 (Japan) BGMUT_286 phenoCommon para-Bombay BGMUT_286 protEffect Y241H BGMUT_287 alias FUT1 725G BGMUT_287 commonName India BGMUT_287 phenoCommon Bombay BGMUT_287 protEffect L242R BGMUT_288 alias FUT1 776A BGMUT_288 commonName Europe 3 BGMUT_288 phenoCommon Bombay BGMUT_288 protEffect V259E BGMUT_289 alias FUT1 785A, 786A BGMUT_289 commonName Europe 4 BGMUT_289 phenoCommon Bombay BGMUT_289 protEffect S262K BGMUT_290 commonName FUT1 801C BGMUT_290 protEffect W267C BGMUT_291 commonName FUT1 801T BGMUT_291 protEffect W267C BGMUT_292 alias USA2 BGMUT_292 commonName FUT1 826T BGMUT_292 phenoCommon para-Bombay BGMUT_292 protEffect Q276X BGMUT_293 commonName FUT1 832A BGMUT_293 protEffect D278N BGMUT_294 alias FUT1 880delTT h2 BGMUT_294 commonName h2 (Taiwan) BGMUT_294 phenoCommon para-Bombay BGMUT_294 protEffect 294fs BGMUT_295 alias FUT1 522A BGMUT_295 commonName h6 (China) BGMUT_295 phenoCommon para-Bombay BGMUT_295 protEffect F174L BGMUT_296 alias FUT1 904 insAAC BGMUT_296 commonName h7 (Japan) BGMUT_296 phenoCommon para-Bombay BGMUT_296 protEffect H302-T303 insN BGMUT_297 alias FUT1 944T BGMUT_297 commonName Europe 5 BGMUT_297 phenoCommon Bombay BGMUT_297 protEffect A315V BGMUT_299 alias FUT1 990delG BGMUT_299 commonName h2 (Japan) BGMUT_299 phenoCommon para-Bombay BGMUT_299 protEffect 330fs BGMUT_30 commonName O04 BGMUT_30 phenoCommon O BGMUT_30 protEffect 88fs + truncation BGMUT_300 alias FUT1 1047C BGMUT_300 commonName Europe 6 BGMUT_300 phenoCommon Bombay BGMUT_300 protEffect W349C BGMUT_302 alias FUT2 428A BGMUT_302 commonName se2 (Reunion) BGMUT_302 phenoCommon non-secretor BGMUT_302 protEffect W143X; enzyme inactive BGMUT_303 alias FUT2 715del BGMUT_303 commonName Sec1 BGMUT_303 protEffect D238fs BGMUT_304 alias FUT2 357T BGMUT_304 commonName Se2 BGMUT_304 phenoCommon secretor BGMUT_304 protEffect no change BGMUT_308 alias FUT2 571T BGMUT_308 commonName se3 Japan, Philippines Polynesia, Taiwan BGMUT_308 phenoCommon non-secretor BGMUT_308 protEffect R191X BGMUT_309 alias FUT2 628T BGMUT_309 commonName se5 Japan BGMUT_309 phenoCommon non-secretor BGMUT_309 protEffect R210X BGMUT_31 commonName O05 BGMUT_31 phenoCommon O BGMUT_31 protEffect 88fs + truncation BGMUT_310 alias FUT2 658T BGMUT_310 commonName China BGMUT_310 phenoCommon non-secretor BGMUT_310 protEffect R220X BGMUT_311 alias FUT2 delGT BGMUT_311 commonName Taiwan BGMUT_311 phenoCommon non-secretor BGMUT_311 protEffect V230del BGMUT_312 alias FUT2 849A BGMUT_312 commonName se4 Philippines, Taiwan BGMUT_312 phenoCommon non-secretor BGMUT_312 protEffect W283X BGMUT_313 alias FUT2 40G BGMUT_313 commonName Se40 South Africa BGMUT_313 phenoCommon secretor BGMUT_313 protEffect I14V BGMUT_314 alias FUT2 481A BGMUT_314 commonName Se481 South Africa BGMUT_314 phenoCommon secretor BGMUT_314 protEffect D161N BGMUT_315 alias FUT2 40G, 481A BGMUT_315 commonName Se40, 481 South Africa BGMUT_315 phenoCommon secretor BGMUT_315 protEffect I14V; D161N BGMUT_316 alias FUT2 357T BGMUT_316 commonName Se357 Taiwan, new Quinea BGMUT_316 phenoCommon secretor BGMUT_316 protEffect no change BGMUT_317 alias FUT2 357T, 480T BGMUT_317 commonName Se357, 480 Africa new Guinea BGMUT_317 phenoCommon secretor BGMUT_317 protEffect no change BGMUT_318 alias FUT2 357T, 379T, 480T BGMUT_318 commonName Se South Africa BGMUT_318 phenoCommon secretor BGMUT_318 protEffect R127C BGMUT_319 alias FUT2 375G BGMUT_319 commonName Se375 South Africa BGMUT_319 phenoCommon secretor BGMUT_319 protEffect no change BGMUT_32 alias O06 exonic BGMUT_32 commonName O06 BGMUT_32 phenoCommon O BGMUT_32 protEffect 88fs + truncation BGMUT_320 alias FUT2 357T, 480T, 778delC BGMUT_320 commonName se 357, 480, 778 South Africa BGMUT_320 phenoCommon non-secretor BGMUT_320 protEffect 259fs 275X BGMUT_321 alias FUT2 385T BGMUT_321 commonName Se385 Polynesia, Taiwan (se2) BGMUT_321 phenoCommon weak secretor BGMUT_321 protEffect I129F BGMUT_322 alias FUT2 357T, 385T BGMUT_322 commonName se385 New Guinea BGMUT_322 protEffect I129F BGMUT_323 alias FUT2 400A BGMUT_323 commonName Se400 New Guinea BGMUT_323 protEffect V134I BGMUT_324 commonName se428 New Guinea BGMUT_324 protEffect W143X; G247S BGMUT_325 alias FUT2 357T, 571T BGMUT_325 commonName se571 New Guinea BGMUT_325 protEffect R191X BGMUT_326 alias FUT2 375G, 664T BGMUT_326 commonName se664 New Guinea BGMUT_326 phenoCommon non-secretor BGMUT_326 protEffect R222C BGMUT_327 alias FUT2 400A, 760A BGMUT_327 commonName se760 New Guinea BGMUT_327 phenoCommon non-secretor BGMUT_327 protEffect V134I; D254N BGMUT_328 alias FUT2 357T, 868A BGMUT_328 commonName se868 New Guinea BGMUT_328 phenoCommon non-secretor BGMUT_328 protEffect G290R BGMUT_329 alias FUT2 357T, 385T BGMUT_329 commonName sej Japan BGMUT_329 phenoCommon non-secretor BGMUT_329 protEffect I129F BGMUT_33 alias O06 intronic BGMUT_33 commonName O06 BGMUT_33 phenoCommon O BGMUT_33 protEffect none BGMUT_330 alias FUT2 688-690del BGMUT_330 commonName se7 BGMUT_330 phenoCommon non-secretor BGMUT_330 protEffect 230delV BGMUT_332 commonName GYPA N BGMUT_332 phenoCommon N BGMUT_332 protEffect S20L; G24E BGMUT_334 commonName GYPB S BGMUT_334 phenoCommon S BGMUT_334 protEffect T48M BGMUT_337 alias GYPA 78R BGMUT_337 commonName GYP Erik/Sta BGMUT_337 phenoCommon ERIK/Sta BGMUT_337 protEffect G78R + /- DTHKRDT YAATPRA HEVSEISV RTVYPPEEET27-78del (sequence encoded by exon 3 is not expressed) BGMUT_338 alias GYPA 84P BGMUT_338 commonName GYP HAG BGMUT_338 phenoCommon HAG BGMUT_338 protEffect A84P BGMUT_34 commonName O07 BGMUT_34 phenoCommon O BGMUT_34 protEffect 88fs + truncation BGMUT_35 commonName O08 BGMUT_35 phenoCommon O BGMUT_35 protEffect P156L; 268fs; also 354fs (residues 269-354 are altered) BGMUT_359 alias GYPB 161A BGMUT_359 commonName GYP Mit BGMUT_359 phenoCommon Mit BGMUT_359 protEffect R54H BGMUT_36 commonName O09 BGMUT_36 phenoCommon O BGMUT_36 protEffect 88fs + truncation BGMUT_361 alias GYPA 230T BGMUT_361 commonName GYPA Mta BGMUT_361 phenoCommon Mta BGMUT_361 protEffect T77I BGMUT_362 alias GYPB 65G BGMUT_362 commonName GYPB M(V) BGMUT_362 phenoCommon M(v) BGMUT_362 protEffect T22S BGMUT_363 alias GYPA 138A BGMUT_363 commonName GYPA Nya BGMUT_363 phenoCommon Nya BGMUT_363 protEffect D46E BGMUT_364 alias GYPA 217T BGMUT_364 commonName GYPA Osa BGMUT_364 phenoCommon Osa BGMUT_364 protEffect P73S BGMUT_365 alias GYPB 173G BGMUT_365 commonName GYPB s(D) BGMUT_365 phenoCommon s(D) BGMUT_365 protEffect P58R BGMUT_37 commonName O10 BGMUT_37 phenoCommon O BGMUT_37 protEffect 88fs + truncation BGMUT_373 alias GYPA 66Y BGMUT_373 commonName GYP Vr BGMUT_373 phenoCommon Vr BGMUT_373 protEffect S66Y BGMUT_375 commonName IGnTC 505A BGMUT_375 phenoCommon adult i in Caucasians; no cataract BGMUT_375 protEffect A169T BGMUT_376 commonName IGnTC 683A BGMUT_376 phenoCommon adult i in Caucasians; no cataract BGMUT_376 protEffect R228Q BGMUT_377 commonName IGnTC 816C BGMUT_377 phenoCommon common I and adult i (the latter with congenital cataract) BGMUT_377 protEffect E272D BGMUT_379 alias IGnT 1043A BGMUT_379 commonName IGnT A, B, C 1 BGMUT_379 phenoCommon adult i in Taiwanese; congenital cataract BGMUT_379 protEffect G348E BGMUT_38 alias O11 exonic BGMUT_38 commonName O11 BGMUT_38 phenoCommon O BGMUT_38 protEffect 88fs + truncation BGMUT_380 alias IGnT 1148A BGMUT_380 commonName IGnT A, B, C 2 BGMUT_380 phenoCommon adult i in Taiwanese; congenital cataract BGMUT_380 protEffect R383H BGMUT_382 commonName IGnTB 978A BGMUT_382 phenoCommon adult i in Arabs (four families); congenital cataract BGMUT_382 protEffect W326X BGMUT_383 alias CD44 137C, 207C, 255C, 326C, 716A BGMUT_383 commonName IN1 (In a) BGMUT_383 phenoCommon In a+ b- BGMUT_383 protEffect R46P; A69A; H85H; Y109S; G239E BGMUT_387 alias 838A BGMUT_387 commonName JKB BGMUT_387 phenoCommon Jk(a-b+) BGMUT_387 protEffect D280N BGMUT_388 alias Delta 6 BGMUT_388 commonName JKB(BS) BGMUT_388 phenoCommon Jk(a-b-) BGMUT_388 protEffect 114-156 del (exon 6) BGMUT_389 alias Delta 7 BGMUT_389 commonName JKB (LP) BGMUT_389 phenoCommon Jk(a-b-) BGMUT_389 protEffect 157-221 del (exon 7); fs + premature X BGMUT_39 alias O11 intronic BGMUT_39 commonName O11 BGMUT_39 phenoCommon O BGMUT_390 commonName JKB 871C BGMUT_390 phenoCommon Jk(a-b-) BGMUT_390 protEffect S291P BGMUT_391 commonName JKA (delta4, 5 + E*) BGMUT_391 phenoCommon Jk(a-b-) BGMUT_391 protEffect protein not expressed BGMUT_392 alias 582G BGMUT_392 commonName JKA Swiss BGMUT_392 phenoCommon Jk(a-b-) BGMUT_392 protEffect Y194X BGMUT_393 commonName JKA English BGMUT_393 phenoCommon Jk(a-b-) BGMUT_393 protEffect protein not expressed BGMUT_395 alias 578T BGMUT_395 commonName KEL1 1 BGMUT_395 phenoCommon K1 BGMUT_395 protEffect T193M BGMUT_396 alias 578G BGMUT_396 commonName KEL1 2 BGMUT_396 phenoCommon K1 BGMUT_396 protEffect T193R BGMUT_397 alias 577T; KEL 1-Ser193 BGMUT_397 commonName KEL1 3 BGMUT_397 phenoCommon K1; may also express K2 BGMUT_397 protEffect T193S BGMUT_398 alias 841T BGMUT_398 commonName KEL3 BGMUT_398 phenoCommon K3 BGMUT_398 protEffect R281W BGMUT_399 alias 842A BGMUT_399 commonName KEL21 BGMUT_399 phenoCommon K21 BGMUT_399 protEffect R281Q BGMUT_4 commonName A102 BGMUT_4 phenoCommon A1 BGMUT_4 protEffect P156L BGMUT_40 alias O12 exonic BGMUT_40 commonName O12 BGMUT_40 phenoCommon O BGMUT_40 protEffect 88fs + truncation BGMUT_400 alias KEL 1790C, 1899G BGMUT_400 commonName KEL6 BGMUT_400 phenoCommon K6; Jsa BGMUT_400 protEffect L597P, L633L BGMUT_401 alias 1481T BGMUT_401 commonName KEL10 BGMUT_401 phenoCommon K10 BGMUT_401 protEffect E494V BGMUT_402 alias 905C BGMUT_402 commonName KEL17 BGMUT_402 phenoCommon K17 BGMUT_402 protEffect V302A BGMUT_403 alias 1145G BGMUT_403 commonName KEL23 BGMUT_403 protEffect Q382R BGMUT_404 alias 539C BGMUT_404 commonName KEL23 BGMUT_404 phenoCommon K24 BGMUT_404 protEffect R180P BGMUT_405 alias KEL 1643G BGMUT_405 commonName KEL12 BGMUT_405 phenoCommon K12 BGMUT_405 protEffect H548R BGMUT_406 alias KEL 388T, 389A BGMUT_406 commonName KEL18 BGMUT_406 phenoCommon K18 BGMUT_406 protEffect R130W; R130Q BGMUT_407 alias KEL 1475A BGMUT_407 commonName KEL19 BGMUT_407 phenoCommon K19 BGMUT_407 protEffect R492Q BGMUT_408 alias KEL 965T BGMUT_408 commonName KEL22 BGMUT_408 phenoCommon K-22 BGMUT_408 protEffect A322V BGMUT_409 alias VLAN BGMUT_409 commonName KEL25 BGMUT_409 phenoCommon VLAN BGMUT_409 protEffect R248Q BGMUT_41 alias O12 intronic BGMUT_41 commonName O12 BGMUT_41 phenoCommon O BGMUT_41 protEffect none BGMUT_410 commonName KEL 742T BGMUT_410 protEffect R248W BGMUT_411 alias TOU BGMUT_411 commonName KEL26 BGMUT_411 phenoCommon K26 BGMUT_411 protEffect R406Q BGMUT_412 alias RAZ BGMUT_412 commonName KEL27 BGMUT_412 phenoCommon RAZ BGMUT_412 protEffect E249K BGMUT_413 alias KEL 1268T BGMUT_413 commonName KEL 20 BGMUT_413 phenoCommon K2 weak BGMUT_413 protEffect A423V BGMUT_415 alias KEL 1088A, 2030G BGMUT_415 commonName KEL mod-2 BGMUT_415 protEffect S363N; Y677C BGMUT_416 alias KEL 986C,1596A BGMUT_416 commonName KEL mod-3 BGMUT_416 protEffect L329P; W532X BGMUT_417 alias KEL 2107A, 1719T BGMUT_417 commonName KEL mod-4 BGMUT_417 protEffect G703R BGMUT_418 alias KEL intron3 1C BGMUT_418 commonName Ko BGMUT_418 phenoCommon Ko; Kell null BGMUT_418 protEffect Protein not expressed. BGMUT_419 alias KEL 382T BGMUT_419 commonName Ko (Michigan, North Carolina) BGMUT_419 phenoCommon Ko; Kell null BGMUT_419 protEffect R128X BGMUT_42 commonName O13 BGMUT_42 phenoCommon O BGMUT_42 protEffect 88fs + truncation BGMUT_420 alias KEL 246A BGMUT_420 commonName Ko (Yougoslavia) BGMUT_420 phenoCommon Ko; Kell null BGMUT_420 protEffect C82X BGMUT_421 alias KEL 1042T BGMUT_421 commonName Ko (Portugal) BGMUT_421 phenoCommon Ko; Kell null BGMUT_421 protEffect Q348X BGMUT_422 alias KEL 2027A BGMUT_422 commonName Ko (Israel) BGMUT_422 phenoCommon Ko; Kell null BGMUT_422 protEffect S676N BGMUT_423 alias KEL intron3 1A BGMUT_423 commonName Ko (Reunion island, Seattle) BGMUT_423 phenoCommon Ko; Kell null BGMUT_423 protEffect Protein not expressed. BGMUT_424 alias KEL 1088A BGMUT_424 commonName Ko (Seattle, New York) BGMUT_424 phenoCommon Ko; Kell null BGMUT_424 protEffect S363N BGMUT_425 alias KEL 574T,1088A BGMUT_425 commonName Ko (New York) BGMUT_425 phenoCommon Ko; Kell null BGMUT_425 protEffect R192X BGMUT_426 alias KEL 1377A BGMUT_426 commonName Ko (Japan 1) BGMUT_426 phenoCommon Ko; Kell null BGMUT_426 protEffect W459X BGMUT_427 alias KEL intron5 3'G BGMUT_427 commonName Ko (Japan2) BGMUT_427 phenoCommon Ko; Kell null BGMUT_427 protEffect fs + termination BGMUT_428 alias KEL 1420T BGMUT_428 commonName Ko (Sweden1) BGMUT_428 phenoCommon Ko; Kell null BGMUT_428 protEffect Q474X BGMUT_429 alias KEL 903delG BGMUT_429 commonName Ko (Sweden2) BGMUT_429 phenoCommon Ko; Kell null BGMUT_429 protEffect 301fs BGMUT_43 commonName O14 BGMUT_43 phenoCommon O BGMUT_43 protEffect P156L; A298V BGMUT_431 alias KN2; KNB BGMUT_431 commonName CR1 4681A BGMUT_431 phenoCommon Kn(b +) BGMUT_431 protEffect V1561M BGMUT_433 alias KN6; KN McCB BGMUT_433 commonName CR1 4768G BGMUT_433 phenoCommon McC(b +) BGMUT_433 protEffect K1590E BGMUT_435 alias KN VIL BGMUT_435 commonName CR1 4801G BGMUT_435 phenoCommon Vil + (Sl2) BGMUT_435 protEffect R1601G BGMUT_437 alias KN Sl3 BGMUT_437 commonName CR1 4828A BGMUT_437 phenoCommon Sl3; needs Sl2 for expression BGMUT_437 protEffect S1610T BGMUT_439 alias KN L BGMUT_439 commonName CR1 L BGMUT_439 protEffect T445A; I684T; Q1022H; H1208R; I1615V; P1827R BGMUT_44 commonName O15 BGMUT_44 phenoCommon O BGMUT_44 protEffect Y309X BGMUT_444 commonName CR1 180A BGMUT_444 protEffect none BGMUT_445 commonName CR1 954C BGMUT_445 protEffect none BGMUT_446 commonName CR1 1329G BGMUT_446 protEffect none BGMUT_447 commonName CR1 1333A BGMUT_447 protEffect A445T BGMUT_448 commonName CR1 2051C BGMUT_448 protEffect I684T BGMUT_449 commonName CR1 2340C BGMUT_449 protEffect none BGMUT_45 commonName O16 BGMUT_45 phenoCommon O BGMUT_45 protEffect 88fs + truncation BGMUT_450 commonName CR1 3066T BGMUT_450 protEffect Q1022H BGMUT_451 commonName CR1 3623G BGMUT_451 protEffect H1208R BGMUT_452 commonName CR 1 4014C BGMUT_452 protEffect none BGMUT_453 commonName CR1 4145C BGMUT_453 protEffect S1382T BGMUT_454 commonName CR1 4223T BGMUT_454 protEffect T1408I BGMUT_455 commonName CR1 4843G BGMUT_455 phenoCommon KAM+ BGMUT_455 protEffect I1615V BGMUT_456 commonName CR1 5397G BGMUT_456 protEffect I1799M BGMUT_457 commonName CR1 5480G BGMUT_457 protEffect P1827R BGMUT_458 commonName CR1 5548G BGMUT_458 protEffect H1850D BGMUT_459 commonName CR1 5627T BGMUT_459 protEffect T1876I BGMUT_46 commonName O17 BGMUT_46 phenoCommon O BGMUT_46 protEffect 88fs + truncation BGMUT_461 alias FUT3 47C, 508A BGMUT_461 commonName le 47, 508 Sri Lanka BGMUT_461 phenoCommon Lewis negative BGMUT_461 protEffect C16S; G170S BGMUT_462 alias FUT3 47C, 202C, 314T BGMUT_462 commonName le47, 202, 314 Sri Lanka BGMUT_462 phenoCommon Lewis negative BGMUT_462 protEffect C16S; W68R; T105M BGMUT_463 alias FUT3 59G, le3, le1 Indonesia (L1), Japan and Sweden (le3), Denmark (le1) BGMUT_463 commonName L1 BGMUT_463 phenoCommon red cell Lewis negative; saliva Lewis positive BGMUT_463 protEffect L20R VAR_022964 comment in LCA8 BGMUT_464 alias FUT3 1067A, le2 Indonesia(L2), Denmark (le2) BGMUT_464 commonName Le2 BGMUT_464 phenoCommon negative BGMUT_464 protEffect I356K BGMUT_465 alias FUT3 59G, 508A BGMUT_465 commonName le1, le4 Japan (le1), Denmark (le4) BGMUT_465 phenoCommon negative BGMUT_465 protEffect L20R; G170S BGMUT_466 alias FUT3 59G, 1067A BGMUT_466 commonName le2 Indonesia (le2), Japan (le3), Denmark BGMUT_466 phenoCommon negative BGMUT_466 protEffect L20R; I356K BGMUT_467 alias FUT3 202C, 314T BGMUT_467 commonName le5 Denmark and Sweden BGMUT_467 phenoCommon negative BGMUT_467 protEffect W68R; T105M BGMUT_468 alias FUT3 202C, 1067A BGMUT_468 commonName le6 Denmark BGMUT_468 phenoCommon negative BGMUT_468 protEffect W68R; I356K BGMUT_469 commonName le7 Denmark and Sweden BGMUT_469 phenoCommon negative BGMUT_469 protEffect L20R; L149M BGMUT_47 commonName O18 BGMUT_47 phenoCommon O BGMUT_47 protEffect 88fs + truncation BGMUT_470 alias FUT3 202C, 314T, 484A BGMUT_470 commonName le Caucasian (South Africa) BGMUT_470 phenoCommon negative BGMUT_470 protEffect W68R; T105M; D162N BGMUT_471 alias FUT3 484A, 667A BGMUT_471 commonName le1 Africa (Xhosa) BGMUT_471 phenoCommon negative BGMUT_471 protEffect D162N; G227R BGMUT_472 alias FUT3 484A, 667A, 808A BGMUT_472 commonName le2 Africa (Xhosa) BGMUT_472 phenoCommon negative BGMUT_472 protEffect D162N; G227R; V270M BGMUT_473 alias FUT3 760A BGMUT_473 commonName Indonesia BGMUT_473 phenoCommon negative BGMUT_473 protEffect D254N BGMUT_474 alias FUT3 304A BGMUT_474 commonName Le Caucasian (South Africa) BGMUT_474 phenoCommon positive BGMUT_474 protEffect Q102K BGMUT_475 alias FUT3 370G BGMUT_475 commonName Le Africa (Xhosa) BGMUT_475 phenoCommon positive BGMUT_475 protEffect S124A BGMUT_477 alias FUT6 370T, 730G, 907G BGMUT_477 commonName Jakarta, Indonesia 1 BGMUT_477 protEffect P124S; L244V; R303G BGMUT_478 alias FUT6 370T, 907G BGMUT_478 commonName Jakarta, Indonesia 2 BGMUT_478 protEffect P124S; R303G BGMUT_479 alias FUT6 370T, 739A BGMUT_479 commonName M1, M2 Jakarta, Indonesia, Sweden BGMUT_479 protEffect P124S; E247K BGMUT_48 commonName O19 BGMUT_48 phenoCommon O BGMUT_48 protEffect F216I; V277M BGMUT_480 alias FUT6 739A, 945A BGMUT_480 commonName M2, M4 Jakarta, Indonesia, Sweden BGMUT_480 protEffect E247K; Y315X BGMUT_482 alias FUT6 63A BGMUT_482 commonName A2 Xhosa, Africa BGMUT_482 protEffect L21L BGMUT_483 alias FUT6 63A, 172A, 376T BGMUT_483 commonName A3 Xhosa, Africa BGMUT_483 protEffect L21L; A58T; R126W BGMUT_484 alias FUT6 63A, 172A, 376T, 527T BGMUT_484 commonName A4 Xhosa, Africa BGMUT_484 protEffect L21L; A58T; R126W; G127V BGMUT_485 alias FUT6 729C BGMUT_485 commonName A5 Xhosa, Africa BGMUT_485 protEffect Y243Y BGMUT_486 alias FUT6 738T, 977A BGMUT_486 commonName A6 Japan, Europe, Xhosa, Africa BGMUT_486 protEffect F246F; R326Q BGMUT_487 alias FUT6 1002G BGMUT_487 commonName A7 Xhosa, Africa BGMUT_487 protEffect L334L BGMUT_488 alias FUT6 370T, 1002G BGMUT_488 commonName A8 Xhosa, Africa BGMUT_488 protEffect P124S; L334L BGMUT_489 alias FUT6 370T, 907G, 1002G BGMUT_489 commonName A9 Xhosa, Africa BGMUT_489 protEffect P124S; R303G; L334L BGMUT_49 commonName O20 BGMUT_49 phenoCommon O BGMUT_49 protEffect F216I; V277M VAR_007673 comment in OCA-I BGMUT_490 alias FUT6 879T, 971T, 1002G BGMUT_490 commonName A10 Xhosa, Africa BGMUT_490 protEffect D293D; T324M; L334L BGMUT_491 alias FUT6 855A, 1002G BGMUT_491 commonName A11 Japan, Europe, Xhosa, Africa BGMUT_491 protEffect P285P; L334L BGMUT_492 alias FUT6 370T, 739A, 1002G BGMUT_492 commonName B1 Xhosa, Africa BGMUT_492 protEffect P124S; E247K; L334L BGMUT_493 alias FUT6 370T, 739A, 945A, 1002G BGMUT_493 commonName B2 Xhosa, Africa BGMUT_493 protEffect P124S; E247K; Y315X BGMUT_494 alias FUT6 18A, 336A, 499insC, 855A, 1002G BGMUT_494 commonName B3 Xhosa, Africa BGMUT_494 protEffect P6P; V112V; 167fs BGMUT_495 alias FUT6 18A, 336A, 499insC, 855A, 977A, 1002G BGMUT_495 commonName B4 Xhosa, Africa BGMUT_495 protEffect P6P; V112V; 167fs BGMUT_497 commonName FUT7 329A BGMUT_497 protEffect R110E BGMUT_498 alias LU 230A BGMUT_498 commonName LUA, LU1 BGMUT_498 phenoCommon Lu(a + b-) or Lu(a + b +) BGMUT_498 protEffect R77H BGMUT_499 alias Lu 1615A BGMUT_499 commonName AUA, LU18 BGMUT_499 phenoCommon Au(a + b-) or Au(a + b +) BGMUT_499 protEffect A539T BGMUT_5 commonName A103 BGMUT_5 phenoCommon A1 BGMUT_5 protEffect P156L; none BGMUT_50 alias O21 exonic BGMUT_50 commonName O21 BGMUT_50 phenoCommon O BGMUT_50 protEffect fs + truncation BGMUT_502 alias LU 524A BGMUT_502 commonName LU--4 BGMUT_502 phenoCommon Lu-4 BGMUT_502 protEffect R175Q BGMUT_503 alias LU 326A BGMUT_503 commonName LU-5 BGMUT_503 phenoCommon Lu-5 BGMUT_503 protEffect R109H BGMUT_504 alias LU 824T BGMUT_504 commonName LU9 BGMUT_504 phenoCommon Lu9 BGMUT_504 protEffect S275F BGMUT_505 alias LU 1878T BGMUT_505 commonName LU-11 BGMUT_505 phenoCommon Lu-11 BGMUT_505 protEffect D626D BGMUT_506 alias LU 611A BGMUT_506 commonName LU14 BGMUT_506 phenoCommon Lu14 BGMUT_506 protEffect M204K BGMUT_507 alias LU 99-104del BGMUT_507 commonName LU-12 99del BGMUT_507 phenoCommon Lu-12 BGMUT_507 protEffect R34; L35del BGMUT_508 alias LU 419A BGMUT_508 commonName LU-12 419A BGMUT_508 phenoCommon Lu-12 BGMUT_508 protEffect R140Q BGMUT_509 commonName LU-13 BGMUT_509 phenoCommon Lu-13 BGMUT_509 protEffect S447L; Q581L BGMUT_51 alias O21 intronic BGMUT_51 commonName O21 BGMUT_51 phenoCommon O BGMUT_510 alias LU 679T BGMUT_510 commonName LU-16 BGMUT_510 phenoCommon Lu-16 BGMUT_510 protEffect R227C BGMUT_511 commonName LU-17 BGMUT_511 phenoCommon Lu-17 BGMUT_511 protEffect E114K BGMUT_512 alias LU 905T BGMUT_512 commonName LU-20 BGMUT_512 phenoCommon Lu-20 BGMUT_512 protEffect T302M BGMUT_513 alias LU 282G BGMUT_513 commonName LU-21 BGMUT_513 phenoCommon Lu-21 BGMUT_513 protEffect D94E BGMUT_514 commonName LU 711A BGMUT_514 phenoCommon Lu a-b- BGMUT_514 protEffect C237X BGMUT_516 alias LW 299G; LW7 BGMUT_516 commonName LWB BGMUT_516 phenoCommon LW(a-b+) or LW(a+b+) BGMUT_516 protEffect Q100R BGMUT_517 alias LW 346del BGMUT_517 commonName LW Big BGMUT_517 phenoCommon LW(a-b-) BGMUT_517 protEffect 116del; 118X BGMUT_519 alias BSG 370T BGMUT_519 commonName OK1 BGMUT_519 phenoCommon Ok(a +) BGMUT_519 protEffect none BGMUT_52 commonName O22 BGMUT_52 phenoCommon O BGMUT_52 protEffect 88fs + truncation BGMUT_520 alias BSG 274A BGMUT_520 commonName OK2 BGMUT_520 phenoCommon Ok(a-) BGMUT_520 protEffect E92K BGMUT_521 alias BSG 176T,195T,234G BGMUT_521 commonName OK (SM) BGMUT_521 phenoCommon Ok(a-) BGMUT_521 protEffect G59V BGMUT_522 alias BSG 327C BGMUT_522 commonName OK3 BGMUT_522 phenoCommon OK(a +) BGMUT_522 protEffect none BGMUT_524 alias p 68insT BGMUT_524 commonName A4GALT 68insT BGMUT_524 phenoCommon p BGMUT_524 protEffect L23fs; 53X BGMUT_525 alias p 237 delCTT BGMUT_525 commonName A4GALT 237 delCTT BGMUT_525 phenoCommon p BGMUT_525 protEffect F80del BGMUT_526 alias p 241 delTTC BGMUT_526 commonName A4GALT 241 delTTC BGMUT_526 phenoCommon p BGMUT_526 protEffect F81del BGMUT_527 alias p 287A BGMUT_527 commonName A4GALT 287A BGMUT_527 phenoCommon p BGMUT_527 protEffect C96Y BGMUT_528 alias p 109G; 290T BGMUT_528 commonName A4GALT 109G; 290T BGMUT_528 phenoCommon p BGMUT_528 protEffect S97L; M37V; T329T BGMUT_529 alias p 300delG BGMUT_529 commonName A4GALT 300delG BGMUT_529 phenoCommon p BGMUT_529 protEffect 101fs BGMUT_53 commonName O23 BGMUT_53 phenoCommon O BGMUT_53 protEffect 88fs + truncation BGMUT_530 alias p 470ins BGMUT_530 commonName A4GALT 470ins BGMUT_530 phenoCommon p BGMUT_530 protEffect 157fs BGMUT_531 alias p 473A BGMUT_531 commonName A4GALT 473A BGMUT_531 phenoCommon p BGMUT_531 protEffect W158X BGMUT_532 alias p 502insC, 914T BGMUT_532 commonName A4GALT 502insC, 914T BGMUT_532 phenoCommon p BGMUT_532 protEffect 167fs; 281X; P305P BGMUT_533 alias p 548A BGMUT_533 commonName A4GALT 548A BGMUT_533 phenoCommon p BGMUT_533 protEffect M183K BGMUT_534 alias p 548A, 987A BGMUT_534 commonName A4GALT 548A, 987A BGMUT_534 phenoCommon p BGMUT_534 protEffect M183K BGMUT_535 alias p 560A BGMUT_535 commonName A4GALT 560A BGMUT_535 phenoCommon p BGMUT_535 protEffect G187D BGMUT_536 alias p 656T BGMUT_536 commonName A4GALT 656T BGMUT_536 phenoCommon p BGMUT_536 protEffect A219V BGMUT_537 alias p 657delG BGMUT_537 commonName A4GALT 657delG BGMUT_537 phenoCommon p BGMUT_537 protEffect A219fs; 348X BGMUT_538 alias p 733insG, 903G BGMUT_538 commonName A4GALT 733insG, 903G BGMUT_538 phenoCommon p BGMUT_538 protEffect 245fs; P301P BGMUT_539 alias p 751T BGMUT_539 commonName A4GALT 751T BGMUT_539 phenoCommon p BGMUT_539 protEffect P251S BGMUT_54 commonName O24 BGMUT_54 phenoCommon O BGMUT_54 protEffect 88fs + truncation BGMUT_540 alias p 752T BGMUT_540 commonName A4GALT 752T BGMUT_540 phenoCommon p BGMUT_540 protEffect P251L BGMUT_541 alias p 752T, 903G BGMUT_541 commonName A4GALT 752T, 903G BGMUT_541 phenoCommon p BGMUT_541 protEffect P251L; P301P BGMUT_542 alias p 109G, 903G, 987A BGMUT_542 commonName A4GALT 109G, 903G, 987A BGMUT_542 phenoCommon p BGMUT_542 protEffect M37V; P301 P; T329T BGMUT_543 alias p 972-997del BGMUT_543 commonName A4GALT 972-997del BGMUT_543 phenoCommon p BGMUT_543 protEffect 331fs; extra 83 aa residues BGMUT_544 alias p 972-997del, 109G, 903G BGMUT_544 commonName A4GALT 972-997del, 109G, 903G BGMUT_544 phenoCommon p BGMUT_544 protEffect 331fs: extra 83 aa residues; M37V; P301P BGMUT_545 alias p 769delG, 903G BGMUT_545 commonName A4GALT 769delG, 903G BGMUT_545 phenoCommon p BGMUT_545 protEffect 256fs BGMUT_546 alias p 783A BGMUT_546 commonName A4GALT 783A BGMUT_546 phenoCommon p BGMUT_546 protEffect W261X BGMUT_547 alias p 902 delC BGMUT_547 commonName A4GALT 902 delC BGMUT_547 phenoCommon p BGMUT_547 protEffect 301fs; 349X BGMUT_548 alias p 1026insC BGMUT_548 commonName A4GALT 1026insC BGMUT_548 phenoCommon p BGMUT_548 protEffect 342fs BGMUT_549 alias P2 -550insC BGMUT_549 commonName A4GALT -550insC BGMUT_549 phenoCommon P2 BGMUT_549 protEffect none BGMUT_55 commonName O25 BGMUT_55 phenoCommon O BGMUT_55 protEffect 88fs + truncation BGMUT_550 alias P2 -160G BGMUT_550 commonName A4GALT -160G BGMUT_550 phenoCommon P2 BGMUT_550 protEffect none BGMUT_552 commonName B3GALT3 202T BGMUT_552 phenoCommon P2k BGMUT_552 protEffect 67X BGMUT_553 commonName B3GALT3 292-293insT BGMUT_553 phenoCommon P1k BGMUT_553 protEffect 97fs; 102X BGMUT_554 commonName B3GALT3 433T BGMUT_554 phenoCommon P1k BGMUT_554 protEffect R145X BGMUT_555 commonName B3GALT3 538insA BGMUT_555 phenoCommon P2k BGMUT_555 protEffect 180fs; 182X BGMUT_556 commonName B3GALT3 648C BGMUT_556 phenoCommon P1k BGMUT_556 protEffect R216S BGMUT_557 commonName B3GALT3 797C BGMUT_557 phenoCommon P2k BGMUT_557 protEffect E266A BGMUT_558 commonName B3GALT3 811A BGMUT_558 phenoCommon P1k BGMUT_558 protEffect G271R BGMUT_559 commonName B3GALT3 959A BGMUT_559 phenoCommon P1k BGMUT_559 protEffect W319X BGMUT_56 alias Ovar.tlse02; O26 exonic BGMUT_56 commonName O26 BGMUT_56 phenoCommon O BGMUT_56 protEffect 88fs + truncation BGMUT_563 alias RHD 1060A BGMUT_563 commonName RHD II BGMUT_563 phenoCommon DII BGMUT_563 protEffect A354N BGMUT_564 alias RHD 455C; 602G; 667G BGMUT_564 commonName RHD IIIa BGMUT_564 phenoCommon DIIIa BGMUT_564 protEffect N152T; T201R; F223V BGMUT_567 alias RHD 186T, 410T, 455C BGMUT_567 commonName RHD III type 4 BGMUT_567 phenoCommon DIII type4 BGMUT_567 protEffect L62F; A137V; N152T BGMUT_568 commonName RHD III type 5 BGMUT_568 phenoCommon DIII type5 BGMUT_568 protEffect L62F; A137V; N152T; T201R; F223V BGMUT_570 alias RHD (186T, 455C, 1048C) BGMUT_570 commonName RHD IVa BGMUT_570 phenoCommon DIVa BGMUT_570 protEffect L62F; N152T; D350H BGMUT_573 alias RHD 667G, 697C BGMUT_573 commonName RHD BGMUT_573 phenoCommon DVa BGMUT_573 protEffect F223V; E233Q BGMUT_575 commonName RHD Va 2 BGMUT_575 phenoCommon DVa BGMUT_575 protEffect F223V; E233Q; V238M; V425L BGMUT_576 alias RHD 697A BGMUT_576 commonName RHD Va 3 BGMUT_576 phenoCommon DVa BGMUT_576 protEffect E233Q BGMUT_58 commonName O27 BGMUT_58 phenoCommon O BGMUT_58 protEffect 88fs + truncation BGMUT_580 alias RHD 329C BGMUT_580 commonName RHD VII BGMUT_580 phenoCommon DVII BGMUT_580 protEffect L110P BGMUT_581 alias RHD 307C, 329C BGMUT_581 commonName RHD VII-like BGMUT_581 phenoCommon DVII-like BGMUT_581 protEffect S103P; L110P BGMUT_582 alias RHD 602G, 667G, 1025C BGMUT_582 commonName RHD DAR BGMUT_582 phenoCommon DAR BGMUT_582 protEffect T201R; F223V; I342T BGMUT_583 alias RHD 505C, 509G, 514T (RHD1-3 CE4 D5-10) BGMUT_583 commonName RHD DFR-1 BGMUT_583 phenoCommon DFR BGMUT_583 protEffect M169L; M170R; I172F BGMUT_587 alias RHD 848T BGMUT_587 commonName RHD DHMi BGMUT_587 phenoCommon DHMi BGMUT_587 protEffect T283I BGMUT_588 alias RHD 854A BGMUT_588 commonName RHD DIM BGMUT_588 phenoCommon DIM BGMUT_588 protEffect C285Y BGMUT_589 alias RHD 1057A BGMUT_589 commonName RHD DNU (DNB) BGMUT_589 phenoCommon DNU (DNB) BGMUT_589 protEffect G353R BGMUT_59 commonName O28 BGMUT_59 phenoCommon O BGMUT_59 protEffect 88fs + truncation BGMUT_590 alias RHD 497C BGMUT_590 commonName RHD DFW BGMUT_590 phenoCommon DFW BGMUT_590 protEffect H166P BGMUT_591 alias RHD 1063A BGMUT_591 commonName RHD DNB BGMUT_591 phenoCommon DNB BGMUT_591 protEffect G355S BGMUT_592 alias RHD 621C BGMUT_592 commonName RHD DMA BGMUT_592 phenoCommon DMA BGMUT_592 protEffect L207F BGMUT_593 alias RHD 1073T BGMUT_593 commonName RHD DWI BGMUT_593 phenoCommon DWI BGMUT_593 protEffect M358T BGMUT_594 alias RHD 680C BGMUT_594 commonName RHD DBA BGMUT_594 phenoCommon DBA BGMUT_594 protEffect L227P BGMUT_595 alias RHD 851T BGMUT_595 commonName RHD DLO BGMUT_595 phenoCommon DLO BGMUT_595 protEffect S284L BGMUT_596 commonName RHD 384C BGMUT_596 protEffect no change BGMUT_598 alias RHD 8G BGMUT_598 commonName RHD weak D type 3 BGMUT_598 phenoCommon weak D(Du) type 3 BGMUT_598 protEffect S3C BGMUT_599 alias RHD 29A BGMUT_599 commonName RHD weak D(Du) type 6 BGMUT_599 phenoCommon weak D(Du) type 6 BGMUT_599 protEffect R10Q BGMUT_6 commonName A104 BGMUT_6 phenoCommon A1 BGMUT_6 protEffect T99T BGMUT_60 commonName O29 BGMUT_60 phenoCommon O BGMUT_60 protEffect 88fs + truncation BGMUT_600 alias RHD 446A BGMUT_600 commonName RHD weak D(Du) type 5 BGMUT_600 phenoCommon weak D(Du) type5 BGMUT_600 protEffect A149D BGMUT_601 alias RHD 658C BGMUT_601 commonName RHD weak D type 16 BGMUT_601 phenoCommon weak D(Du) type16 BGMUT_601 protEffect W220R BGMUT_602 alias RHD 809G BGMUT_602 commonName RHD weak D type 1 BGMUT_602 phenoCommon weak D(Du) type 1 BGMUT_602 protEffect V270G BGMUT_603 alias RHD 826C BGMUT_603 commonName RHD weak D type 13 BGMUT_603 phenoCommon weak D(Du) type 13 BGMUT_603 protEffect A276P BGMUT_604 alias RHD 830A BGMUT_604 commonName RHD weak D type 12 BGMUT_604 phenoCommon weak D(Du) type 12 BGMUT_604 protEffect G277E BGMUT_605 alias RHD 845A BGMUT_605 commonName RHD weak D type 15 BGMUT_605 phenoCommon weak D(Du) type 15 BGMUT_605 protEffect G282D BGMUT_606 alias RHD 880C BGMUT_606 commonName RHD weak D(Du) type 9 BGMUT_606 phenoCommon weak D(Du) type 9 BGMUT_606 protEffect A294P BGMUT_607 alias RHD 885 BGMUT_607 commonName RHD weak D type 11 BGMUT_607 phenoCommon weak D(Du) type 11 BGMUT_607 protEffect M295I BGMUT_608 alias RHD 919A BGMUT_608 commonName RHD weak D(Du) type 8 BGMUT_608 phenoCommon weak D(Du) type 8 BGMUT_608 protEffect G307R BGMUT_609 alias RHD 1016A BGMUT_609 commonName RHD weak D(Du) type 7 BGMUT_609 phenoCommon weak D(Du) type 7 BGMUT_609 protEffect G339E BGMUT_61 commonName O30 BGMUT_61 phenoCommon O BGMUT_61 protEffect 88fs + truncation BGMUT_610 alias RHD 1154A BGMUT_610 commonName RHD weak D type 2 BGMUT_610 phenoCommon weak D(Du) type 2 BGMUT_610 protEffect G385A BGMUT_611 alias RHD 1177C BGMUT_611 commonName RHD weak D type 10 BGMUT_611 phenoCommon weak D(Du) type 10 BGMUT_611 protEffect W393R BGMUT_612 alias RHD 602G, 667G BGMUT_612 commonName RHD weak D type 4 a BGMUT_612 phenoCommon weak D(Du) type 4 BGMUT_612 protEffect T201R; F223V BGMUT_613 commonName RHD weak D type 4 b BGMUT_613 phenoCommon weak D(Du) type 4 BGMUT_613 protEffect T201R; F223V BGMUT_614 commonName RHD weak D type 4. 1 BGMUT_614 phenoCommon weak D(Du) type 4. 1 BGMUT_614 protEffect W16C; T201R; F223V BGMUT_615 commonName RHD weak D type 4. 21 BGMUT_615 phenoCommon weak D(Du) type 4. 21 BGMUT_615 protEffect T201R; F223V; I342T BGMUT_616 commonName RHD weak D(Du) type 4. 22 BGMUT_616 phenoCommon weak D(Du) type 4. 22 BGMUT_616 protEffect T201R; F223V; I342T BGMUT_617 alias RHD 340T BGMUT_617 commonName RHD weak D type 17 BGMUT_617 phenoCommon weak D(Du) type 17 BGMUT_617 protEffect R114W BGMUT_618 commonName RHD weak D type 29 BGMUT_618 phenoCommon weak D(Du) type 29 BGMUT_618 protEffect I60L; S68N; K198N; F223V; I342T BGMUT_619 commonName RHD weak D type 14 BGMUT_619 phenoCommon weak D(Du) type 14 BGMUT_619 protEffect S182T; K198N; T201R BGMUT_62 commonName O31 BGMUT_62 phenoCommon O BGMUT_62 protEffect 88fs + truncation BGMUT_620 alias RHD 634T BGMUT_620 commonName RHD weak D type 23 BGMUT_620 phenoCommon weak D type 23 BGMUT_620 protEffect G212C BGMUT_621 alias RHD 1013C BGMUT_621 commonName RHD weak D type 24 BGMUT_621 phenoCommon weak D type 24 BGMUT_621 protEffect L338P BGMUT_622 alias RHD 26A BGMUT_622 commonName RHD weak D type 26 BGMUT_622 phenoCommon weakD type 26 BGMUT_622 protEffect V9D BGMUT_623 alias RHD 399T BGMUT_623 commonName RHD weak D type 37 BGMUT_623 phenoCommon weak D type 37 BGMUT_623 protEffect K133N BGMUT_624 alias RHD 833A BGMUT_624 commonName RHD weak D type 38 BGMUT_624 phenoCommon weak D type 38 BGMUT_624 protEffect G278E BGMUT_625 alias RHD 1015A BGMUT_625 commonName RHD weak D type 39 BGMUT_625 phenoCommon weak D type 39 BGMUT_625 protEffect G339R BGMUT_626 alias RHD 520A BGMUT_626 commonName RHD weak D type33 (Taiwan1) BGMUT_626 phenoCommon weak D Taiwan 1 BGMUT_626 protEffect V174M BGMUT_627 alias RHD 809A BGMUT_627 commonName RHD weak D type Taiwan2 BGMUT_627 phenoCommon weak D Taiwan 2 BGMUT_627 protEffect V270M BGMUT_628 alias RHD 1136T BGMUT_628 commonName RHD DAU-0 BGMUT_628 phenoCommon DAU-0 (European) BGMUT_628 protEffect T379M BGMUT_629 alias RHD 579A, 1136T BGMUT_629 commonName RHD DAU-0. 1 BGMUT_629 phenoCommon DAU-0. 1(African) BGMUT_629 protEffect T379M BGMUT_63 commonName O32 BGMUT_63 phenoCommon O BGMUT_63 protEffect 88fs + truncation BGMUT_630 alias RHD 689T, 1136T BGMUT_630 commonName RHD DAU-1 BGMUT_630 phenoCommon DAU-1 (African) BGMUT_630 protEffect S230I; T379M BGMUT_631 alias RHD 209A, 998A, 1136T BGMUT_631 commonName RHD DAU-2 BGMUT_631 phenoCommon DAU-2 (African) BGMUT_631 protEffect R70Q; S333N; T379M BGMUT_632 alias RHD 835A, 1136T BGMUT_632 commonName RHD DAU-3 BGMUT_632 phenoCommon DAU-3 (African) BGMUT_632 protEffect V279M; T379M BGMUT_633 alias RHD 697A, 1136T BGMUT_633 commonName RHD DAU- 4 BGMUT_633 phenoCommon DAU-4 (African) BGMUT_633 protEffect E233K; T379M BGMUT_637 alias RHD 121T BGMUT_637 commonName RHD neg2 BGMUT_637 phenoCommon D negative BGMUT_637 protEffect Q41X BGMUT_639 alias RHD 600delG BGMUT_639 commonName RHD neg4 BGMUT_639 phenoCommon D negative BGMUT_639 protEffect 228X BGMUT_64 commonName O33 BGMUT_64 phenoCommon O BGMUT_64 protEffect 88fs + truncation BGMUT_645 alias RHD 47A BGMUT_645 commonName RHD neg(Cde)3 BGMUT_645 phenoCommon D negative (Cde) BGMUT_645 protEffect W16X BGMUT_646 alias RHD 635T BGMUT_646 commonName RHD neg(Cde)4 BGMUT_646 phenoCommon D negative (Cde) BGMUT_646 protEffect G212V BGMUT_647 alias RHD intron 8 1A BGMUT_647 commonName RHD neg(Cde)5 BGMUT_647 phenoCommon D negative (Cde) BGMUT_648 alias RHD 269A BGMUT_648 commonName RHD neg6 BGMUT_648 phenoCommon D negative BGMUT_648 protEffect W90X BGMUT_65 commonName O34 BGMUT_65 phenoCommon O BGMUT_65 protEffect 88fs + truncation BGMUT_650 alias RHD 906ins BGMUT_650 commonName RHD neg8 BGMUT_650 phenoCommon D negative BGMUT_650 protEffect fs BGMUT_651 alias RHD 933A BGMUT_651 commonName RHD neg9 BGMUT_651 phenoCommon D neg BGMUT_651 protEffect 311X BGMUT_652 alias RHD intron 2 1A BGMUT_652 commonName RHD neg10 BGMUT_652 phenoCommon D neg BGMUT_652 protEffect exon2 is absent BGMUT_653 alias RHD 554A BGMUT_653 commonName RHD neg11 BGMUT_653 phenoCommon D neg BGMUT_653 protEffect W185X BGMUT_657 alias RHD 1222C BGMUT_657 commonName RHD DEL BGMUT_657 phenoCommon D-el BGMUT_657 protEffect W408R BGMUT_658 alias RHD intron 3 1A BGMUT_658 commonName RHD DEL (Cde)1 BGMUT_658 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_658 protEffect none BGMUT_659 alias RHD 885T BGMUT_659 commonName RHD DEL (Cde)2 BGMUT_659 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_659 protEffect M295I BGMUT_66 alias Ovar1 BGMUT_66 commonName O35 BGMUT_66 phenoCommon O BGMUT_66 protEffect V36F R63H P74S 88fs + truncation BGMUT_660 alias RHD intron 9 1A; 1227A BGMUT_660 commonName RHD DEL (Cde)3 BGMUT_660 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_660 protEffect K409K BGMUT_661 alias RHD intron 5 38del CTCT BGMUT_661 commonName RHD DEL (Cde)4 BGMUT_661 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_661 protEffect none BGMUT_662 alias RHD 1252insT BGMUT_662 commonName RHD DEL (Cde)5 BGMUT_662 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_662 protEffect X418L BGMUT_663 alias RHD 1203A BGMUT_663 commonName RHD DEL (Cde)6 BGMUT_663 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_663 protEffect Y401X BGMUT_668 alias RHCE 500A BGMUT_668 commonName RHCE EI,Ew BGMUT_668 phenoCommon EI;Ew BGMUT_668 protEffect M167K BGMUT_67 alias Ovar2 BGMUT_67 commonName O36 BGMUT_67 phenoCommon O BGMUT_67 protEffect V36F R63H P74S 88fs + truncation BGMUT_671 alias RHcE 697G, 712G BGMUT_671 commonName RHCE EIII BGMUT_671 phenoCommon EIII BGMUT_671 protEffect Q233E; M238V BGMUT_673 alias RHCE 733G BGMUT_673 commonName RHCE VS BGMUT_673 phenoCommon VS BGMUT_673 protEffect L245V BGMUT_674 alias RHCE 106A BGMUT_674 commonName RHCE CX BGMUT_674 phenoCommon CX BGMUT_674 protEffect A36T BGMUT_675 alias RHcE 602C BGMUT_675 commonName RHCE EIV BGMUT_675 phenoCommon EIV BGMUT_675 protEffect R201T BGMUT_676 alias RHCE 461C BGMUT_676 commonName RHCE EV/EKH; also RHCE ceRT BGMUT_676 phenoCommon EV/EKH; also ceRT, expresses D epitope 6 BGMUT_676 protEffect R154T BGMUT_677 alias RHCE122G BGMUT_677 commonName RHCE CW BGMUT_677 phenoCommon CW BGMUT_677 protEffect Q41R BGMUT_678 alias RHce 286A BGMUT_678 commonName RHCE Rh-26 BGMUT_678 phenoCommon ce variant c+Rh:-26 BGMUT_678 protEffect G96S BGMUT_68 commonName O39 BGMUT_68 phenoCommon O BGMUT_68 protEffect P74S; 88fs + truncation BGMUT_680 alias RHce 48C, 712G, 733G, 787G, 800A, 916G BGMUT_680 commonName RHce ceAR BGMUT_680 phenoCommon ceAR BGMUT_680 protEffect W16C; M239V; L245V; R263G; M267K; I306V BGMUT_681 alias Rhce 48C, 667T BGMUT_681 commonName Rhce ceMO BGMUT_681 phenoCommon ceMO (hrS-neg; altered expression of e) BGMUT_681 protEffect W16C; V223F BGMUT_69 commonName O40 BGMUT_69 phenoCommon O BGMUT_69 protEffect V36F; R63H; 88fs + truncation BGMUT_691 alias RHCE 685-687del BGMUT_691 commonName RHCE Dc-ceBP BGMUT_691 phenoCommon Dc-ceBP BGMUT_691 protEffect R229del BGMUT_696 alias RHcE 350-358del BGMUT_696 commonName RHCE-cEMI BGMUT_696 phenoCommon cEMI (silent RHE) BGMUT_696 protEffect A120-S122del BGMUT_698 alias RHCE intron 4: 1T BGMUT_698 commonName RHCE null amorph 2 BGMUT_698 phenoCommon Rh null amorph BGMUT_699 alias RHce 80-84del BGMUT_699 commonName RHCE null amorph 3 BGMUT_699 phenoCommon Rh null amorph BGMUT_699 protEffect L31X BGMUT_7 commonName A105 BGMUT_7 phenoCommon A1 BGMUT_7 protEffect P156L BGMUT_70 alias O1-vB, tlse13 BGMUT_70 commonName O41 BGMUT_70 phenoCommon O BGMUT_70 protEffect 88fs + truncation BGMUT_702 alias RHAG 236A BGMUT_702 commonName RH mod (VL) BGMUT_702 phenoCommon Rh mod (VL) BGMUT_702 protEffect S79N BGMUT_703 alias RHAG 3T BGMUT_703 commonName RH mod (SM) BGMUT_703 phenoCommon Rh mod (SM) BGMUT_703 protEffect M1I BGMUT_704 alias RHAG 1183delA BGMUT_704 commonName RH mod (Japan) BGMUT_704 phenoCommon Rh mod (Japanese) BGMUT_704 protEffect N395fs BGMUT_705 alias RHAG 836A BGMUT_705 commonName RH null reg (YT) BGMUT_705 phenoCommon Rh null (YT) reg BGMUT_705 protEffect G279E BGMUT_706 alias RHAG 808A, 838A BGMUT_706 commonName RH null reg (HT) BGMUT_706 phenoCommon Rh null (HT) reg BGMUT_706 protEffect V270I; G280R BGMUT_707 commonName RH null reg (AC) BGMUT_707 phenoCommon Rh null (AC) reg BGMUT_707 protEffect Exon 7 skipped. BGMUT_709 commonName RH null reg (AL) BGMUT_709 phenoCommon Rh null (AL) reg BGMUT_709 protEffect protein not expressed BGMUT_71 alias O1-vB, tlse14 BGMUT_71 commonName O42 BGMUT_71 phenoCommon O BGMUT_71 protEffect 88fs + truncation BGMUT_710 alias RHAG intron 7 1A BGMUT_710 commonName RH null reg (TT) BGMUT_710 phenoCommon Rh null (TT) reg BGMUT_711 alias RHAG 1139T BGMUT_711 commonName RH null reg (WO) BGMUT_711 phenoCommon Rh null (WO) reg BGMUT_711 protEffect G380V BGMUT_712 commonName RhCe polypeptide; Rh30 BGMUT_712 phenoCommon RhCe BGMUT_712 protEffect W16C; L60I; N68S; P103S BGMUT_713 commonName RhCE polypeptide; Rh30 BGMUT_713 phenoCommon RhCE BGMUT_713 protEffect W16C; L60I; N68S; P103S; A226P BGMUT_714 alias RHcE 676C BGMUT_714 commonName RhcE polypeptide; Rh30 BGMUT_714 phenoCommon RhcE BGMUT_714 protEffect A226P BGMUT_72 alias Ov7.1 BGMUT_72 commonName O43 BGMUT_72 phenoCommon O BGMUT_72 protEffect 88fs + truncation BGMUT_724 alias XK intron 2 5A BGMUT_724 commonName XK (MD) BGMUT_724 phenoCommon McLeod syndrome BGMUT_724 protEffect none BGMUT_725 alias XK 268del BGMUT_725 commonName XK (L) BGMUT_725 phenoCommon McLeod syndrome BGMUT_725 protEffect Y90fs BGMUT_726 alias XK intron 1 1C BGMUT_726 commonName XK (non-CGD) BGMUT_726 phenoCommon McLeod syndrome BGMUT_726 protEffect no protein (on membrane) BGMUT_73 alias Ov7.2 BGMUT_73 commonName O44 BGMUT_73 phenoCommon O BGMUT_73 protEffect 88fs + truncation BGMUT_735 alias XK 686del BGMUT_735 commonName XK 1 BGMUT_735 phenoCommon McLeod syndrome BGMUT_735 protEffect 229fs + 264X BGMUT_736 alias XK 771del BGMUT_736 commonName XK 2 BGMUT_736 phenoCommon McLeod syndrome BGMUT_736 protEffect 257fs + 267X BGMUT_737 alias XK 856del BGMUT_737 commonName XK 3 BGMUT_737 phenoCommon McLeod syndrome BGMUT_737 protEffect 286fs + 301X BGMUT_738 alias XK 938del BGMUT_738 commonName XK 4 BGMUT_738 phenoCommon McLeod syndrome BGMUT_738 protEffect 313fs + 336X BGMUT_74 alias Ovar, tlse51 BGMUT_74 commonName O45 BGMUT_74 phenoCommon O BGMUT_74 protEffect 88fs + truncation BGMUT_740 alias XK 1013delT BGMUT_740 commonName XK (Japan 1) BGMUT_740 phenoCommon McLeod syndrome BGMUT_740 protEffect fs + 408X BGMUT_742 alias XK intron 1 1C BGMUT_742 commonName XK (New Mexico; Ohio) BGMUT_742 phenoCommon McLeod syndrome BGMUT_743 alias XK 107A BGMUT_743 commonName XK 6 BGMUT_743 phenoCommon McLeod syndrome BGMUT_743 protEffect W36X BGMUT_744 alias XK 397T BGMUT_744 commonName XK 7 BGMUT_744 phenoCommon McLeod syndrome BGMUT_744 protEffect R133X BGMUT_745 alias XK 155X BGMUT_745 commonName XK 8 BGMUT_745 phenoCommon McLeod syndrome BGMUT_745 protEffect Q155X BGMUT_746 alias XK 236X BGMUT_746 commonName XK 9 BGMUT_746 phenoCommon McLeod syndrome BGMUT_746 protEffect W236X BGMUT_747 alias XK 880C BGMUT_747 commonName XK 10 BGMUT_747 phenoCommon McLeod syndrome BGMUT_747 protEffect C294R BGMUT_748 alias XK 895T BGMUT_748 commonName XK (Switzerland 1) BGMUT_748 phenoCommon McLeod syndrome BGMUT_748 protEffect Q299X BGMUT_749 alias XK 664G BGMUT_749 commonName XK (NYC) BGMUT_749 phenoCommon McLeod syndrome BGMUT_749 protEffect R222G BGMUT_75 alias Ovar, tlse52 BGMUT_75 commonName O46 BGMUT_75 phenoCommon O BGMUT_75 protEffect 88fs + truncation BGMUT_750 alias XK 11 BGMUT_750 commonName XK 11 BGMUT_750 phenoCommon McLeod syndrome BGMUT_750 protEffect W314X BGMUT_751 alias XK 979A BGMUT_751 commonName XK (Switzerland 2) BGMUT_751 phenoCommon McLeod BGMUT_751 protEffect E327K BGMUT_752 alias XK 39del BGMUT_752 commonName XK (Brazil) BGMUT_752 phenoCommon McLeod syndrome BGMUT_752 protEffect no protein BGMUT_754 alias Sc 169A BGMUT_754 commonName Sc -2 BGMUT_754 phenoCommon Sc: -1, 2 BGMUT_754 protEffect G57R BGMUT_755 commonName Sc null 1 BGMUT_755 phenoCommon Sc: -1, -2 BGMUT_755 protEffect none; H26Y; 113fs BGMUT_756 alias Rd 178G BGMUT_756 commonName Sc4 BGMUT_756 phenoCommon Rd + BGMUT_756 protEffect P60A BGMUT_757 alias Star; Sc 139A BGMUT_757 commonName Sc -5 BGMUT_757 phenoCommon Sc: 1, -2, 3 BGMUT_757 protEffect E47K BGMUT_759 alias MER 383ins BGMUT_759 commonName MER2 1 BGMUT_759 phenoCommon Mer2 negative with renal failure BGMUT_759 protEffect K127fs + 140X BGMUT_76 alias Ovar, tlse20 BGMUT_76 commonName O47 BGMUT_76 phenoCommon O BGMUT_76 protEffect 88fs + truncation BGMUT_760 alias MER2 533A BGMUT_760 commonName MER2 2 BGMUT_760 phenoCommon Mer2 negative and healthy BGMUT_760 protEffect R178H BGMUT_762 alias O01bantu BGMUT_762 commonName O54 BGMUT_762 phenoCommon O (associated with bantu phenotype) BGMUT_762 protEffect 88fs + truncation BGMUT_764 commonName A bantu 01 BGMUT_764 phenoCommon A bantu BGMUT_764 protEffect exon 4 del; P156L; 354fs + 21 aa BGMUT_765 alias FUT1 293T BGMUT_765 commonName China BGMUT_765 phenoCommon para-Bombay BGMUT_765 protEffect T98M BGMUT_766 commonName A304 BGMUT_766 phenoCommon A3 BGMUT_766 protEffect P156L; R180H; 354fs + 21aa BGMUT_77 alias O2-2 BGMUT_77 commonName O48 BGMUT_77 phenoCommon O BGMUT_77 protEffect P74S; R176G; R217C; G229D; G268R; BGMUT_771 commonName A208 BGMUT_771 phenoCommon A2 BGMUT_771 protEffect P156L; R180P BGMUT_772 commonName FUT1 682G BGMUT_772 phenoCommon para-Bombay BGMUT_772 protEffect M228V BGMUT_773 alias RHD 636T BGMUT_773 commonName RHD DUC-1 BGMUT_773 phenoCommon DUC-1; CcDee BGMUT_773 protEffect G212G BGMUT_774 alias RHD 667D, 697C, 1136T BGMUT_774 commonName RHD DAU-5 BGMUT_774 phenoCommon DAU-5; ccDee BGMUT_774 protEffect F223V; E233Q; T379M BGMUT_775 alias RHD 700T BGMUT_775 commonName RHD DQC or DYU BGMUT_775 phenoCommon DQC; ccDee BGMUT_775 protEffect R234W BGMUT_776 alias RHD 733C BGMUT_776 commonName RHD DUC-2 BGMUT_776 phenoCommon DUC-2; ccDEe BGMUT_776 protEffect V245L BGMUT_777 alias RH53; RHCE 365T BGMUT_777 commonName RHCE JAHK; also RHCE ceSL 1 BGMUT_777 phenoCommon JAHK antigen; associated with rG (d(C)(E)) haplotype;RHCE ceSL does not express JAHK, atypical serology BGMUT_777 protEffect S122L BGMUT_778 alias Avar BGMUT_778 commonName Aw10 BGMUT_778 phenoCommon Aw BGMUT_778 protEffect D262N BGMUT_779 alias RHD 998A, 1136T BGMUT_779 commonName RHD DAU-6 BGMUT_779 phenoCommon DAU (similar to DAU-2) BGMUT_779 protEffect S333N; T379M BGMUT_78 alias O2-3 BGMUT_78 commonName O49 BGMUT_78 phenoCommon O BGMUT_78 protEffect P74S; R176G; G229D; G268R; BGMUT_781 alias RHD 667G, 674T BGMUT_781 commonName RHD DTO BGMUT_781 phenoCommon weakD (similar to weak D type4 + RHD pseudo) BGMUT_781 protEffect F223V; S225F BGMUT_782 alias RHD 1226T BGMUT_782 commonName RHD weak D type 42 BGMUT_782 phenoCommon weak D (similar to weak D type 22) BGMUT_782 protEffect K409M BGMUT_783 alias 52G; 809G BGMUT_783 commonName RHD weak D type 1.1 BGMUT_783 phenoCommon very weak D; mistyped as D- or weak D type1 BGMUT_783 protEffect L18V; V270G BGMUT_784 alias 17T BGMUT_784 commonName RHD weak D type 31 BGMUT_784 phenoCommon very weak D BGMUT_784 protEffect P6L BGMUT_785 alias 1121A BGMUT_785 commonName RHD weak D type 32 BGMUT_785 phenoCommon very weak D BGMUT_785 protEffect I134N BGMUT_786 commonName Ael06 BGMUT_786 phenoCommon A weak BGMUT_786 protEffect M142T, P156L BGMUT_79 alias O2-4 BGMUT_79 commonName O50 BGMUT_79 phenoCommon O BGMUT_79 protEffect P74S; T163M; R176G; G268R; BGMUT_790 commonName C1GALT1C1 202T, 393A BGMUT_790 phenoCommon Tn syndrome BGMUT_790 protEffect R68X BGMUT_791 commonName C1GALT1C1 454A BGMUT_791 phenoCommon Tn syndrome BGMUT_791 protEffect E152K BGMUT_792 commonName C1GALT1C1 393A BGMUT_792 phenoCommon Encoded protein retains C1GALT1 chaperone activity leading to the absence of Tn syndrome BGMUT_792 protEffect D131E BGMUT_794 commonName B(A)04 BGMUT_794 phenoCommon Aweak B BGMUT_794 protEffect R176G; M214V; G235S; L266M; G268A; BGMUT_795 commonName B(A)05 BGMUT_795 phenoCommon Aweak B BGMUT_795 protEffect R176G; M214T; G235S; L266M; G268A; BGMUT_797 commonName Ax09 BGMUT_797 phenoCommon Ax BGMUT_797 protEffect P156L; W181C BGMUT_798 commonName A4GALT -550insC; -160G; 987A; 1697A BGMUT_798 phenoCommon P1; P2 BGMUT_798 protEffect none BGMUT_799 commonName A4GALT 109G; 987A BGMUT_799 phenoCommon P1 (observed so far) BGMUT_799 protEffect M37V BGMUT_8 commonName A106 BGMUT_8 phenoCommon A1 BGMUT_8 protEffect none; P156L BGMUT_80 alias O4 BGMUT_80 commonName O51 BGMUT_80 phenoCommon O BGMUT_80 protEffect 29fs BGMUT_800 commonName A4GALT 109G; 987A; 1697A BGMUT_800 phenoCommon P1 (observed so far) BGMUT_800 protEffect M37V BGMUT_801 commonName FUT2 357T, 716A BGMUT_801 phenoCommon Secretor BGMUT_801 protEffect R239Q BGMUT_802 commonName FUT1 328A BGMUT_802 phenoCommon para-Bombay BGMUT_802 protEffect A110T BGMUT_803 commonName FUT1 586T BGMUT_803 phenoCommon para-Bombay BGMUT_803 protEffect 196 Q>X BGMUT_805 commonName FUT1 35T BGMUT_805 phenoCommon none BGMUT_805 protEffect A12V BGMUT_806 alias Sc 54T, 76T, 103A BGMUT_806 commonName Sc -7 (SCAN 54T,76T,103A) BGMUT_806 phenoCommon Sc: 1,-2,3 BGMUT_806 protEffect H26Y; G35S BGMUT_807 commonName Sc null 2 BGMUT_807 phenoCommon Sc: -1,-2,-3 BGMUT_807 protEffect R332X BGMUT_808 alias Sc 242A BGMUT_808 commonName Sc-6 (SCER 242A) BGMUT_808 phenoCommon SC:1,-2,-3 BGMUT_808 protEffect R81Q BGMUT_809 commonName SC null 2A BGMUT_809 phenoCommon Sc: -1,-2,-3 BGMUT_809 protEffect R332X BGMUT_81 alias O5 BGMUT_81 commonName O52 BGMUT_81 phenoCommon O BGMUT_81 protEffect Q108X BGMUT_810 commonName Aw11 BGMUT_810 phenoCommon Aw BGMUT_810 protEffect V175M; R241W BGMUT_812 alias FUT2 357T, 685A BGMUT_812 commonName Se 357,685 BGMUT_812 phenoCommon secretor BGMUT_812 protEffect V229M BGMUT_813 alias FUT2 400A BGMUT_813 commonName Se 400 BGMUT_813 phenoCommon secretor BGMUT_813 protEffect V134I BGMUT_815 alias RHce 48C BGMUT_815 commonName Rhce BGMUT_815 phenoCommon Rhce e variant BGMUT_815 protEffect W16C BGMUT_816 alias O.02.16.1 BGMUT_816 commonName O55 BGMUT_816 protEffect 88fs BGMUT_817 commonName Bw11 BGMUT_817 phenoCommon Bw BGMUT_817 protEffect R176G; L232P; G235S; L266M; G268A BGMUT_818 commonName Ax10 BGMUT_818 phenoCommon Ax BGMUT_818 protEffect P156L; V277M; R337G BGMUT_819 alias O1 variant BGMUT_819 commonName O56 BGMUT_819 phenoCommon O BGMUT_819 protEffect 88fs+truncation BGMUT_82 alias O6 BGMUT_82 commonName O53 BGMUT_82 phenoCommon O BGMUT_82 protEffect W181X BGMUT_820 alias Avar (S#230); A207 (designated by Yip et al.) BGMUT_820 commonName A209 BGMUT_820 phenoCommon A2 BGMUT_820 protEffect P156L; R176H; fs + elongation BGMUT_821 alias Bvar (S#52) BGMUT_821 commonName B108 BGMUT_821 protEffect R176G; G235S; L266M; G268A; A298S BGMUT_822 alias Bvar (S#108) BGMUT_822 commonName B109 BGMUT_822 protEffect R176G; G235S; L266M; G268A BGMUT_823 alias Bvar (S#133,#216) BGMUT_823 commonName B110 (same as Bw14) BGMUT_823 phenoCommon Bw BGMUT_823 protEffect V175M; R176G; G235S; L266M; G268A BGMUT_824 alias Bvar (S#192) BGMUT_824 commonName B111 BGMUT_824 protEffect R178G; G235S; L266M; G268A BGMUT_825 commonName Aw12 BGMUT_825 phenoCommon Aw BGMUT_825 protEffect P156L; M186V BGMUT_826 commonName Bw12 BGMUT_826 phenoCommon Bw BGMUT_826 protEffect P93L; R176G; G235S; L266M; G268A BGMUT_827 alias O.01.11.1 BGMUT_827 commonName O57 BGMUT_827 phenoCommon O BGMUT_827 protEffect 88fs BGMUT_828 commonName Aw13 BGMUT_828 phenoCommon Aw BGMUT_828 protEffect initiator Met codon is disrupted; amino terminally truncated protein BGMUT_829 alias a common haplotype in 5'region BGMUT_829 commonName A4GALT -773G, -770T, -638C, 550insC, -212G, -164C, -160G BGMUT_829 phenoCommon P1, P2 BGMUT_829 protEffect none BGMUT_83 commonName A301 BGMUT_83 phenoCommon A3 BGMUT_83 protEffect D291N BGMUT_832 alias RHD DFV BGMUT_832 commonName RHD 223V BGMUT_832 phenoCommon weak D type 4 BGMUT_832 protEffect F223V BGMUT_833 alias RHD 410T,455C, 602G, 667G, 819A BGMUT_833 commonName RHD III type 6 BGMUT_833 phenoCommon DIII type 6 BGMUT_833 protEffect A137A; N152T; T201R; F223V; A273A BGMUT_835 alias RHD 602G, 667G, 697C, 957A,1025C BGMUT_835 commonName RHD DARE BGMUT_835 phenoCommon related to weak D type 4 BGMUT_835 protEffect T201R; F223V; E233Q; V319V; I342T BGMUT_836 alias RHCE 48C, 105T, 365T BGMUT_836 commonName RHCE ceSL 2 BGMUT_836 phenoCommon ceSL;atypical serology: D antigen expression not associated with D-specific amino acids BGMUT_836 protEffect W16C, S122L BGMUT_837 alias hybrid A102 X O02 BGMUT_837 commonName Ael07 BGMUT_837 phenoCommon Ael BGMUT_837 protEffect P156L; V277M BGMUT_838 alias O217 (designated by authors) BGMUT_838 commonName O58 BGMUT_838 phenoCommon O BGMUT_838 protEffect 88fs + truncation BGMUT_839 alias O103.1 (designated by authors) BGMUT_839 commonName O59 BGMUT_839 phenoCommon O BGMUT_839 protEffect 88fs + truncation BGMUT_84 commonName A302 BGMUT_84 phenoCommon A3 BGMUT_84 protEffect V277M; 354fs BGMUT_840 commonName B305 BGMUT_840 phenoCommon B3 BGMUT_840 protEffect M142T, R176G; G235S; L266M; G268A BGMUT_841 alias GYPC-9 BGMUT_841 commonName GEIS BGMUT_841 phenoCommon GEIS BGMUT_841 protEffect T32N BGMUT_842 alias B (var) BGMUT_842 commonName B306 BGMUT_842 phenoCommon A1B3 in A101/Bvar or A102/Bvar heterozygotes or B in Bvar/O01 heterozygotes BGMUT_842 protEffect R176G; D183N; G235S; L266M; G268A BGMUT_845 alias DO 378T; 624C; 793G; 898G BGMUT_845 commonName DOB WL BGMUT_845 phenoCommon DOb BGMUT_845 protEffect N265D; L300V BGMUT_847 commonName Fut1 661T BGMUT_847 phenoCommon Para-Bombay BGMUT_847 protEffect R221C BGMUT_848 alias RHcE 48C, 538C BGMUT_848 commonName RHce ceRA BGMUT_848 phenoCommon very weak RH5 antigen BGMUT_848 protEffect W16C; G180R BGMUT_85 commonName A303 BGMUT_85 phenoCommon A3 BGMUT_85 protEffect L280F BGMUT_851 alias 1868A; KALT BGMUT_851 commonName KEL29 BGMUT_851 phenoCommon KALT BGMUT_851 protEffect R623K BGMUT_852 alias KEL 913A; KTIM BGMUT_852 commonName KEL30 BGMUT_852 phenoCommon KTIM BGMUT_852 protEffect D305N BGMUT_853 alias RHD 611C BGMUT_853 commonName RHD weak D type 19 BGMUT_853 phenoCommon normal D BGMUT_853 protEffect I204T BGMUT_854 alias RHD 1250C BGMUT_854 commonName RHD weak D type 20 BGMUT_854 phenoCommon normal D BGMUT_854 protEffect F417S BGMUT_855 alias RHce 48C, 697G, 733G; Crawford; RH43 BGMUT_855 commonName RHce ceCF BGMUT_855 phenoCommon ceCF; Crawford antigen (RH43) and VS (RH20) are expressed BGMUT_855 protEffect W16C; Q233E; L245V BGMUT_859 commonName cis-AB05 BGMUT_859 phenoCommon cisAB BGMUT_859 protEffect R176G; G235S; L266M BGMUT_86 commonName Ax01 BGMUT_86 phenoCommon Ax BGMUT_86 protEffect F216I BGMUT_860 alias RHD 3A BGMUT_860 commonName RHD Del (Cde)7 BGMUT_860 phenoCommon Del BGMUT_860 protEffect loss initiation codon BGMUT_861 alias RHD 28T BGMUT_861 commonName RHD Del (Cde)8 BGMUT_861 phenoCommon Del BGMUT_861 protEffect R10W BGMUT_862 alias RHD 53C BGMUT_862 commonName RHD Del(Cde)9 BGMUT_862 phenoCommon Del BGMUT_862 protEffect L18P BGMUT_863 alias RHD 251C BGMUT_863 commonName RHD Del(Cde)10 BGMUT_863 phenoCommon Del BGMUT_863 protEffect L84P BGMUT_864 commonName IGnT C 243A BGMUT_864 phenoCommon adult i in Taiwanese; no congenital cataract BGMUT_864 protEffect N81K BGMUT_865 commonName FUT1 538T; 1089G BGMUT_865 phenoCommon para-Bombay BGMUT_865 protEffect Q180X; A363A BGMUT_866 commonName FUT1 689C BGMUT_866 phenoCommon para-Bombay BGMUT_866 protEffect Q230P BGMUT_867 alias KEL 1899G BGMUT_867 commonName KEL7 - 1 BGMUT_867 phenoCommon Jsb BGMUT_867 protEffect L633L BGMUT_868 alias RHD DVL-1 BGMUT_868 commonName RHD 684-686del BGMUT_868 phenoCommon partial D BGMUT_868 protEffect R229del BGMUT_869 alias RHD DVL-2 BGMUT_869 commonName RHD 705-707del BGMUT_869 phenoCommon partial D BGMUT_869 protEffect K235del BGMUT_87 commonName Ax02 BGMUT_87 phenoCommon Ax BGMUT_87 protEffect F216I; V277M BGMUT_870 alias RHce ceBP BGMUT_870 commonName RHce 685-687del BGMUT_870 phenoCommon altered e and f antigen expression BGMUT_870 protEffect R229del BGMUT_871 commonName FUT1 917T BGMUT_871 phenoCommon most likely para-Bombay BGMUT_871 protEffect T306I BGMUT_872 commonName FUT1 35T, 269T BGMUT_872 phenoCommon para-Bombay BGMUT_872 protEffect A12V; G90V BGMUT_873 commonName FUT2 278T; 357T BGMUT_873 phenoCommon para-Bombay BGMUT_873 protEffect A93V; N119N BGMUT_874 commonName FUT1 422A BGMUT_874 phenoCommon Bombay BGMUT_874 protEffect W141X BGMUT_875 commonName Bel05 BGMUT_875 phenoCommon Bel BGMUT_875 protEffect R176G; G235S; L266M; G268A; V318M BGMUT_876 commonName B(A)06 BGMUT_876 phenoCommon B(A) classified as AwB BGMUT_876 protEffect R176G;G235S;L266M BGMUT_879 commonName SEMA7A 620A BGMUT_879 phenoCommon variant JMH (variant C) BGMUT_879 protEffect R207Q BGMUT_88 commonName Ax03 BGMUT_88 phenoCommon Ax BGMUT_88 protEffect F216I; V277M BGMUT_880 commonName SEMA7A 1379A BGMUT_880 phenoCommon variant JMH (variant U) BGMUT_880 protEffect R460H BGMUT_881 commonName SEMA7A 1381T BGMUT_881 phenoCommon variant JMH (variantP) BGMUT_881 protEffect R461C BGMUT_883 commonName SEMA7A 619T, 1545G BGMUT_883 phenoCommon variant JMH (variant J) BGMUT_883 protEffect R207W; Q515Q BGMUT_884 commonName CR1 4619G BGMUT_884 protEffect N1540S BGMUT_885 commonName SEMA7A 507T BGMUT_885 phenoCommon JMH-negative BGMUT_885 protEffect Y169Y BGMUT_886 commonName SEMA7A 1059T BGMUT_886 phenoCommon JMH-negative BGMUT_886 protEffect G353G BGMUT_887 commonName SEMA7A 1239T BGMUT_887 phenoCommon JMH-negative BGMUT_887 protEffect V413V BGMUT_888 alias RHD 594T;602G BGMUT_888 commonName RHD weak D type 51 BGMUT_888 phenoCommon weak D BGMUT_888 protEffect K198N; T201R BGMUT_889 alias RHD 92C BGMUT_889 commonName RHD weak D type 52 BGMUT_889 phenoCommon weakD BGMUT_889 protEffect F31S BGMUT_89 commonName Ax04 BGMUT_89 phenoCommon Ax BGMUT_89 protEffect F216I BGMUT_890 alias RHD 740G BGMUT_890 commonName RHD weak D type 53 BGMUT_890 phenoCommon weak D BGMUT_890 protEffect V247G BGMUT_891 alias RHD 667G;676C;697C;712A;733C;744T;787A;800T (D1-4 CE5 D6-10) BGMUT_891 commonName RHD V type 2 BGMUT_891 phenoCommon weakD BGMUT_891 protEffect F223V; A226P; E233Q; V238M; V245L; S248S; G263R; K267M BGMUT_892 alias RHD 667G;676C;697C;712A;733C;744T; BGMUT_892 commonName RHD V type 8 BGMUT_892 phenoCommon weak D BGMUT_892 protEffect F223V; A226P; E233Q; V238M; V245L; S248S BGMUT_894 commonName LU 361T BGMUT_894 phenoCommon Lua-b- BGMUT_894 protEffect R121X BGMUT_895 commonName LU 691T BGMUT_895 phenoCommon Lu a-b- BGMUT_895 protEffect R231X BGMUT_896 commonName RHD 325delA BGMUT_896 phenoCommon D neg. BGMUT_896 protEffect T108fs + 118X BGMUT_898 commonName RHce 48C;733G BGMUT_898 protEffect W16C; L245V BGMUT_899 alias KEL intron8 1T BGMUT_899 commonName Ko (Germany 1) BGMUT_899 phenoCommon Kell null BGMUT_899 protEffect protein altered BGMUT_9 alias A201 exonic BGMUT_9 commonName A201 BGMUT_9 phenoCommon A2 BGMUT_9 protEffect P156L; 354fs + 21aa BGMUT_900 alias KEL intron8 1A BGMUT_900 commonName Ko (Austria 1) BGMUT_900 phenoCommon Kell null or 1;-2 BGMUT_900 protEffect protein altered BGMUT_901 alias KEL 948A BGMUT_901 commonName Ko (Germany 2) BGMUT_901 phenoCommon Kell null BGMUT_901 protEffect W316X BGMUT_902 alias KEL 1216T BGMUT_902 commonName Ko (Austria 2) BGMUT_902 phenoCommon Kell 1;-2 BGMUT_902 protEffect R406X BGMUT_903 alias KEL 1477T BGMUT_903 commonName Ko (Germany 3) BGMUT_903 phenoCommon Kell null BGMUT_903 protEffect Q493X BGMUT_904 alias KEL 1546T BGMUT_904 commonName Ko (Germany 4) BGMUT_904 phenoCommon Kell null BGMUT_904 protEffect R516X BGMUT_905 alias KEL 1678G BGMUT_905 commonName Ko (Austria 3) BGMUT_905 phenoCommon Kell 1;-2 BGMUT_905 protEffect P560A BGMUT_906 alias KEL 2023T BGMUT_906 commonName Ko (Austria 4) BGMUT_906 phenoCommon Kell 1;-2 BGMUT_906 protEffect R675X BGMUT_907 alias KEL 986C BGMUT_907 commonName Ko (US 1) BGMUT_907 phenoCommon Kell 1;2mod BGMUT_907 protEffect L329P BGMUT_908 alias KEL 306A,1298T BGMUT_908 commonName Ko (Austria 5) BGMUT_908 phenoCommon Kell 1;2el BGMUT_908 protEffect D102E; P433L BGMUT_909 alias KEL 1763G BGMUT_909 commonName Ko (Austria 6) BGMUT_909 phenoCommon Kell 1;2el BGMUT_909 protEffect Y588C BGMUT_910 alias KEL 841T BGMUT_910 commonName Ko (Austria 7) BGMUT_910 phenoCommon Kell 1;2 weak BGMUT_910 protEffect R281W BGMUT_911 commonName Aw14 BGMUT_911 phenoCommon Aweak BGMUT_911 protEffect P156L; H233Q BGMUT_912 commonName Bw18 BGMUT_912 phenoCommon Bw BGMUT_912 protEffect R176G; G235S; L266M; G268T BGMUT_913 commonName Bw15 BGMUT_913 phenoCommon Bw BGMUT_913 protEffect R176G; M189V; G235S; L266M; G268A BGMUT_914 commonName Bw16 BGMUT_914 phenoCommon Bw BGMUT_914 protEffect R176G; I192T; G235S; L266M; G268A BGMUT_915 commonName Bw17 BGMUT_915 phenoCommon Bw BGMUT_915 protEffect R176G; G235S; D262N; L266M; G268A BGMUT_916 commonName Bw19 BGMUT_916 phenoCommon Bw BGMUT_916 protEffect R176G; F216I; G235S; L266M; G268A BGMUT_917 commonName Bw14 ( same as B110) BGMUT_917 phenoCommon Bw BGMUT_917 protEffect V175M; R176G; G235S; L266M; G268A BGMUT_919 alias RHD 494G BGMUT_919 commonName RHD weak D 494G BGMUT_919 phenoCommon putative weak or partial D BGMUT_919 protEffect Y165C BGMUT_92 commonName Ax07 BGMUT_92 phenoCommon Ax BGMUT_92 protEffect W332X BGMUT_920 alias RHD 1148C BGMUT_920 commonName RHD weak D 1148C BGMUT_920 phenoCommon putative weak or partial D BGMUT_920 protEffect L383P BGMUT_922 alias RHD 1219-1224del BGMUT_922 commonName RHD weak D 1219-1224del BGMUT_922 phenoCommon putative weak or partial D BGMUT_922 protEffect F407-W408del BGMUT_924 alias RHD 640T BGMUT_924 commonName RHD weak D 640T BGMUT_924 phenoCommon probably weak D BGMUT_924 protEffect L214F BGMUT_925 alias RHD 677A BGMUT_925 commonName RHD weak D 677A BGMUT_925 phenoCommon putative weak or partial D BGMUT_925 protEffect A266D BGMUT_926 alias RHD 1006C VAR_003525 comment in NDI BGMUT_926 commonName RHD weak D 1006C BGMUT_926 phenoCommon putative weak or partial D BGMUT_926 protEffect G366R BGMUT_927 alias RHD 65A BGMUT_927 commonName RHD weak D 65A BGMUT_927 phenoCommon putative weak or partial D BGMUT_927 protEffect A22E BGMUT_928 alias RHD 284G BGMUT_928 commonName RHD weak D 284G BGMUT_928 phenoCommon putative weak or partial D BGMUT_928 protEffect D95G BGMUT_929 alias RHD 330GTdel BGMUT_929 commonName RHD weak D 330GTdel BGMUT_929 phenoCommon D null BGMUT_929 protEffect fs BGMUT_93 commonName Ax08 BGMUT_93 phenoCommon Ax BGMUT_93 protEffect F216I; V277M BGMUT_930 alias RHD 667G,697C,1136T,1177C BGMUT_930 commonName RHD weak D 667G,697C,1136T,1177C BGMUT_930 phenoCommon partial D BGMUT_930 protEffect F223V, E233Q, T379M, W393R BGMUT_932 commonName A305 BGMUT_932 phenoCommon A3 BGMUT_932 protEffect V274M BGMUT_933 commonName A306 BGMUT_933 phenoCommon A3 BGMUT_933 protEffect P156L; V274M BGMUT_934 commonName A307 BGMUT_934 phenoCommon A3 BGMUT_934 protEffect P156L; R249W BGMUT_935 commonName Ax11 BGMUT_935 phenoCommon Ax BGMUT_935 protEffect P156L; A287V BGMUT_936 alias SLC4A1 2191C BGMUT_936 commonName SLC4A1 -Hemel BGMUT_936 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_936 protEffect S731P BGMUT_937 alias SLC4A1 166G, 1249T, 2201G BGMUT_937 commonName SLC4A1 - Hurstpierpoint 2 BGMUT_937 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_937 protEffect K56E; L417L; H734R BGMUT_938 alias SCL4A1 2113T BGMUT_938 commonName SLC4A1 - Horam BGMUT_938 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_938 protEffect D705Y BGMUT_939 alias SLC4A1 2201G BGMUT_939 commonName SLC4A1 - Hurstpierpoint 1 BGMUT_939 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_939 protEffect H734R BGMUT_94 commonName Aw01 BGMUT_94 phenoCommon Aw BGMUT_94 protEffect T136M; P156L; 354fs BGMUT_940 alias SLC4A1 2060C BGMUT_940 commonName SLC4A1 - Blackburn BGMUT_940 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_940 protEffect L687P BGMUT_941 commonName O60 (designated by authors O4 or O41) BGMUT_941 phenoCommon O BGMUT_941 protEffect 29fs; 55x BGMUT_942 commonName DO 185C,378T,624C,793G BGMUT_942 phenoCommon Do(a-b-), Hy-, Gy(a-) BGMUT_942 protEffect F62S; Y126Y; L208L; N265D BGMUT_943 alias DAF 466A BGMUT_943 commonName DAF CROM (CROM14) BGMUT_943 phenoCommon CROV- BGMUT_943 protEffect E156K BGMUT_944 alias DAF 740G BGMUT_944 commonName DAF CRAM (CROM15) BGMUT_944 phenoCommon CRAM- BGMUT_944 protEffect Q247R BGMUT_945 commonName FUT2 210G, 357T BGMUT_945 phenoCommon secretor BGMUT_945 protEffect T70T; N119N BGMUT_946 commonName FUT2 357T, 380A, 385T BGMUT_946 phenoCommon weak secretor (deduced) BGMUT_946 protEffect N119N; R127H; I129F BGMUT_947 commonName FUT2 853A BGMUT_947 phenoCommon weaker secretor (deduced reduced enzyme activity) BGMUT_947 protEffect A285T BGMUT_948 commonName FUT2 357T, 855C BGMUT_948 phenoCommon secretor BGMUT_948 protEffect N119N; A285A BGMUT_949 commonName FUT2 171G;216T;428A;572A;739A;960G;1009G;1011C BGMUT_949 phenoCommon non-secretor BGMUT_949 protEffect A57A; Y72Y; W143X; R191Q; G247S; T320T; BGMUT_95 commonName Aw02 BGMUT_95 phenoCommon Aw BGMUT_95 protEffect G117A; P156L; 354fs BGMUT_950 commonName FUT2 357T, 748insGTG BGMUT_950 phenoCommon not known BGMUT_950 protEffect 249-250insV BGMUT_951 alias CD44 488A BGMUT_951 commonName IN 4 BGMUT_951 phenoCommon IN:-4 BGMUT_951 protEffect T163K BGMUT_953 alias RHD 505C, 509G, 514T, 560A, 577A; 594T, 602G (RHD1-3 CE4 D5-10) BGMUT_953 commonName RHD DFR-2 BGMUT_953 phenoCommon DFR BGMUT_953 protEffect M169L;M170R;I172F;S182T;E193K;K198N;T201R BGMUT_959 alias RHD DCS-1 BGMUT_959 commonName RHD 667G; 676C BGMUT_959 phenoCommon ccDEe BGMUT_959 protEffect F223V; A226P BGMUT_96 commonName Aw03 BGMUT_96 phenoCommon Aw BGMUT_96 protEffect R68T; P156L; 354fs BGMUT_960 alias RHD DCS-2 BGMUT_960 commonName RHD 676C BGMUT_960 phenoCommon ccDEe BGMUT_960 protEffect A226P BGMUT_961 commonName Bw20 BGMUT_961 phenoCommon O; no or very weak anti-B in serum BGMUT_961 protEffect R176G; G235S; L266M; G268A; 272fs +38 aa BGMUT_962 commonName A210 BGMUT_962 phenoCommon A2 BGMUT_962 protEffect W90R;P156L BGMUT_963 commonName A211 BGMUT_963 phenoCommon A2 BGMUT_963 protEffect P89L;P156L BGMUT_964 commonName B307 BGMUT_964 phenoCommon B3 BGMUT_964 protEffect A137V; R176G; G235S; L266M; G268A BGMUT_97 commonName Aw04 BGMUT_97 phenoCommon Aw BGMUT_97 protEffect R241W BGMUT_98 commonName Aw05 BGMUT_98 phenoCommon Aw BGMUT_98 protEffect E322G BGMUT_99 commonName Aw06 BGMUT_99 phenoCommon Aw BGMUT_99 protEffect R168G CFMDB_911 rnaNtChange C or T at 1001+ 11 CFMDB_911 commonName 1001+ 11C/T CFMDB_912 rnaNtChange C or T at 1001+ 12 CFMDB_912 commonName 1001+ 12C/T CFMDB_1386 rnaNtChange A to T at 1001+ 3 CFMDB_1386 commonName 1001+ 3A>T CFMDB_161 rnaNtChange T to G at 1002- 3 CFMDB_161 commonName 1002- 3T- >G CFMDB_913 rnaNtChange C or G at 1002- 56 CFMDB_913 commonName 1002- 56C/G CFMDB_1387 rnaNtChange Deletion of TTT beginning at 1002- 7 CFMDB_1387 commonName 1002- 7delTTT CFMDB_162 rnaNtChange deletion of AA from 1013 CFMDB_162 commonName 1013delAA CFMDB_712 rnaNtChange T to A at - 102 CFMDB_712 commonName - 102T- >A CFMDB_1011 rnaNtChange C or T at 1047 CFMDB_1011 commonName 1047C/T CFMDB_167 rnaNtChange deletion of C at 1058 CFMDB_167 commonName 1058delC CFMDB_172 rnaNtChange deletion of T at 1078 CFMDB_172 commonName 1078delT CFMDB_1551 rnaNtChange G to A at 107 CFMDB_1551 commonName 107 G/A CFMDB_1367 rnaNtChange G or A at 1086 CFMDB_1367 commonName 1086G/A CFMDB_1173 rnaNtChange A or G at 1092 CFMDB_1173 commonName 1092A/G CFMDB_746 rnaNtChange G or A at 1098 CFMDB_746 commonName 1098G/A CFMDB_871 rnaNtChange C or G at 1104 CFMDB_871 commonName 1104(C/G) CFMDB_825 rnaNtChange deletion of T at 1112 CFMDB_825 commonName 1112delT CFMDB_178 rnaNtChange deletion of A at 1119 CFMDB_178 commonName 1119delA CFMDB_182 rnaNtChange insertion of G after 1138 CFMDB_182 commonName 1138insG CFMDB_185 rnaNtChange deletion of A at 1150 CFMDB_185 commonName 1150delA CFMDB_1371 rnaNtChange tandem duplication of 12 bp from position 1140 to position 1151 CFMDB_1371 commonName 1151ins12 CFMDB_186 rnaNtChange insertion of TC after 1154 CFMDB_186 commonName 1154insTC CFMDB_187 rnaNtChange deletion of C at 1161 CFMDB_187 commonName 1161delC CFMDB_188 rnaNtChange insertion of G after 1161 CFMDB_188 commonName 1161insG CFMDB_1554 rnaNtChange T to A at 1164 CFMDB_1554 commonName 1164 T/A CFMDB_1395 rnaNtChange Deletion of TC at 1185 CFMDB_1395 commonName 1185delTC CFMDB_657 rnaNtChange deletion of G at 1199 CFMDB_657 commonName 1199delG CFMDB_1522 rnaNtChange Deletion of 23 bp from nucleotide + 120 of exon 1 promoter, to nucleotide 142 (the first nucleotide of codon 4) CFMDB_1522 commonName 120del23 CFMDB_198 rnaNtChange deletion of T at 1213 CFMDB_198 commonName 1213delT CFMDB_200 rnaNtChange deletion of G at 1215 CFMDB_200 commonName 1215delG CFMDB_201 rnaNtChange deletion of CT from 1221 CFMDB_201 commonName 1221delCT CFMDB_203 rnaNtChange insertion of ACAAAA after 1243 CFMDB_203 commonName 1243ins6 CFMDB_914 rnaNtChange C or T at 1248+ 17 CFMDB_914 commonName 1248+ 17C- >T CFMDB_204 rnaNtChange G to A at 1248+ 1 CFMDB_204 commonName 1248+ 1G- >A CFMDB_1303 rnaNtChange G to C at 1248+ 1 CFMDB_1303 commonName 1248+ 1G- >C CFMDB_592 rnaNtChange T or C at 1248+ 52 CFMDB_592 commonName 1248+ 52T/C CFMDB_883 rnaNtChange deletion of TA at 1249- 27 CFMDB_883 commonName 1249- 27delTA CFMDB_586 rnaNtChange deletion of AT from 1249- 30 CFMDB_586 commonName 1249- 30delAT CFMDB_1611 rnaNtChange 1249- 31 A>G CFMDB_1611 commonName 1249- 31A- >G CFMDB_205 rnaNtChange A to G at 1249 CFMDB_205 commonName 1249- 5A- >G CFMDB_915 rnaNtChange C or T at 1249- 82 CFMDB_915 commonName 1249- 82C/T CFMDB_1365 rnaNtChange delete 23 bp from 124 to 146 CFMDB_1365 commonName 124del23bp CFMDB_588 rnaNtChange insertion of A after 1259 CFMDB_588 commonName 1259insA CFMDB_902 rnaNtChange G or C at 125 CFMDB_902 commonName 125G/C CFMDB_207 rnaNtChange deletion of A at 1283 CFMDB_207 commonName 1283delA CFMDB_1362 rnaNtChange Insertion of TA at 1285 Or Insertion of AT at 1284 CFMDB_1362 commonName 1288insTA CFMDB_1269 rnaNtChange delete TT from 1291 CFMDB_1269 commonName 1291delTT CFMDB_695 rnaNtChange deletion of 7 bp from 1294 CFMDB_695 commonName 1294del7 CFMDB_209 rnaNtChange G to T at 1296 CFMDB_209 commonName 1296G/T CFMDB_955 rnaNtChange G or C at 129 CFMDB_955 commonName 129G/C CFMDB_604 rnaNtChange deletion of G at 1309 CFMDB_604 commonName 1309delG CFMDB_1000 rnaNtChange insertion of A after 1323 CFMDB_1000 commonName 1323insA CFMDB_212 rnaNtChange A to C at 1341+ 18 CFMDB_212 commonName 1341+ 18A- >C CFMDB_618 rnaNtChange G to A at 1341+ 1 CFMDB_618 commonName 1341+ 1G- >A CFMDB_1451 rnaNtChange C >T at 1341+ 28 CFMDB_1451 commonName 1341+ 28C>T CFMDB_980 rnaNtChange C or T at 1341+ 28 CFMDB_980 commonName 1341+ 28C/T CFMDB_1639 rnaNtChange A to G at 1341+ 6 CFMDB_1639 commonName 1341+ 6 A>G CFMDB_1627 rnaNtChange A to G at 1341 + 6 CFMDB_1627 commonName 1341+ 6 A>G CFMDB_1509 rnaNtChange G or A at 1341+ 80 CFMDB_1509 commonName 1341+ 80G>A CFMDB_1041 rnaNtChange G to A at 1341 CFMDB_1041 commonName 1341G- >A CFMDB_213 rnaNtChange TTT to G at 1342- 11 CFMDB_213 commonName 1342- 11TTT- >G CFMDB_919 rnaNtChange G or T at 1342- 13 CFMDB_919 commonName 1342- 13G/T CFMDB_873 rnaNtChange G to C at 1342- 1 CFMDB_873 commonName 1342- 1G- >C CFMDB_214 rnaNtChange A to C at 1342- 2 CFMDB_214 commonName 1342- 2A- >C CFMDB_215 rnaNtChange deletion of AG from 1342- 2 CFMDB_215 commonName 1342- 2delAG CFMDB_1328 commonName 135del120ins300 CFMDB_752 rnaNtChange deletion of G at 1366 CFMDB_752 commonName 1366delG CFMDB_985 rnaNtChange deletion of CAAAA at 1367 CFMDB_985 commonName 1367del5 CFMDB_1149 rnaNtChange deletion of C at 1367 CFMDB_1149 commonName 1367delC CFMDB_1498 rnaNtChange deletion of 17bp from 1429 CFMDB_1498 commonName 1429del7bp CFMDB_219 rnaNtChange deletion of AT from 1460 CFMDB_219 commonName 1460delAT CFMDB_220 rnaNtChange insertion of AGAT after 1461 CFMDB_220 commonName 1461ins4 CFMDB_1568 rnaNtChange T to C at 1461 CFMDB_1568 commonName 1461 T/C CFMDB_1031 rnaNtChange deletion of A at 1471 CFMDB_1031 commonName 1471delA CFMDB_1266 rnaNtChange deletion of GG at 1497 CFMDB_1266 commonName 1497delGG CFMDB_224 rnaNtChange deletion of G at 1504 CFMDB_224 commonName 1504delG CFMDB_1211 rnaNtChange G to A at 1524+ 1 CFMDB_1211 commonName 1524+ 1G- >A CFMDB_1566 rnaNtChange Ins A at 1524+ 60 CFMDB_1566 commonName 1524+ 60 insA CFMDB_1565 rnaNtChange 1524 + 68 G>A CFMDB_1565 commonName 1524+ 68 G/A CFMDB_226 rnaNtChange insertion of C after 1524+ 6, with G to A at 1524+ 12 CFMDB_226 commonName 1524+ 6insC CFMDB_830 rnaNtChange G or A at 1525- 18 CFMDB_830 commonName 1525- 18G/A CFMDB_227 rnaNtChange G to A at 1525- 1 CFMDB_227 commonName 1525- 1G- >A CFMDB_1304 rnaNtChange A to G at 1525- 2 CFMDB_1304 commonName 1525- 2A- >G CFMDB_1510 rnaNtChange G or A at 1525- 42 CFMDB_1510 commonName 1525- 42G>A CFMDB_921 rnaNtChange G or A at 1525- 60 CFMDB_921 commonName 1525- 60G/A CFMDB_920 rnaNtChange A or G at 1525- 61 CFMDB_920 commonName 1525- 61A/G CFMDB_751 rnaNtChange C or T at 1531 CFMDB_751 commonName 1531C/T (L467F) CFMDB_978 rnaNtChange deletion of 10bp after 1540 CFMDB_978 commonName 1540del10 CFMDB_692 rnaNtChange deletion of G from 1548 - 1550 CFMDB_692 commonName 1548delG CFMDB_1574 rnaNtChange deletion of CA from 1565 CFMDB_1574 commonName 1565 del CA CFMDB_876 rnaNtChange G or A at 156 CFMDB_876 commonName 156G/A CFMDB_233 rnaNtChange deletion of G at 1571 CFMDB_233 commonName 1571delG CFMDB_1164 rnaNtChange insertion of T at 1576 CFMDB_1164 commonName 1576insT CFMDB_238 rnaNtChange deletion of CA from 1609 CFMDB_238 commonName 1609delCA CFMDB_240 rnaNtChange deletion of TT from 1612 CFMDB_240 commonName 1612delTT CFMDB_733 rnaNtChange G or A at 163 CFMDB_733 commonName 163G/A CFMDB_869 rnaNtChange C to G at 1650 CFMDB_869 commonName 1650C/G CFMDB_1023 rnaNtChange A or G at 1651 CFMDB_1023 commonName 1651A/G CFMDB_1462 rnaNtChange C to T at 1653 CFMDB_1462 commonName 1653C/T CFMDB_1610 rnaNtChange Deletion of G at 1660 CFMDB_1610 commonName 1660delG CFMDB_247 rnaNtChange deletion of TA from 1677 CFMDB_247 commonName 1677delTA CFMDB_1206 rnaNtChange A to C at 1693 CFMDB_1206 commonName 1693A- >C CFMDB_252 rnaNtChange deletion of 17 bp from 1706 CFMDB_252 commonName 1706del17 CFMDB_1025 rnaNtChange A or G at 1713 CFMDB_1025 commonName 1713A/G CFMDB_922 rnaNtChange T or C at 1716+ 12 CFMDB_922 commonName 1716+ 12T/C CFMDB_923 rnaNtChange G or T at 1716+ 13 CFMDB_923 commonName 1716+ 13G/T CFMDB_641 rnaNtChange G to A at 1716+ 1 CFMDB_641 commonName 1716+ 1G- >A CFMDB_1590 rnaNtChange 1716+ 1 G>T CFMDB_1590 commonName 1716+ 1G- >T CFMDB_662 rnaNtChange T to C at 1716+ 2 CFMDB_662 commonName 1716+ 2T- >C CFMDB_1591 rnaNtChange 1716+ 4 A>T CFMDB_1591 commonName 1716+ 4 A- >T CFMDB_896 rnaNtChange insertion of 11 nucleotides after 1716+ 63 CFMDB_896 commonName 1716+ 63ins11nt CFMDB_613 rnaNtChange A or G at 1716+ 77 CFMDB_613 commonName 1716+ 77A/G CFMDB_1026 rnaNtChange G or A at 1716 CFMDB_1026 commonName 1716G/A CFMDB_925 rnaNtChange T or C at 1717- 19 CFMDB_925 commonName 1717- 19T/C CFMDB_255 rnaNtChange G to A at 1717- 1 CFMDB_255 commonName 1717- 1G- >A CFMDB_254 rnaNtChange A to G at 1717- 2 CFMDB_254 commonName 1717- 2A- >G CFMDB_663 rnaNtChange T to G at 1717- 3 CFMDB_663 commonName 1717- 3T- >G CFMDB_253 rnaNtChange G to A at 1717- 8 CFMDB_253 commonName 1717- 8G- >A CFMDB_1022 rnaNtChange T to A at 1717- 9 CFMDB_1022 commonName 1717- 9T- >A CFMDB_831 rnaNtChange deletion of AC from 1742 CFMDB_831 commonName 1742delAC CFMDB_1128 rnaNtChange insertion of TA at 1749 CFMDB_1128 commonName 1749insTA CFMDB_630 rnaNtChange deletion of A between 172- 174 CFMDB_630 commonName 174delA CFMDB_13 rnaNtChange deletion of C at 175 CFMDB_13 commonName 175delC CFMDB_14 rnaNtChange insertion of T after 175 CFMDB_14 commonName 175insT CFMDB_1150 rnaNtChange T or G at 1764 CFMDB_1150 commonName 1764T/G CFMDB_1284 rnaNtChange delete 6 nucleotide from 1767 CFMDB_1284 commonName 1767del6 CFMDB_1027 rnaNtChange A or T at 1773 CFMDB_1027 commonName 1773A/T CFMDB_260 rnaNtChange deletion of CT from 1774 CFMDB_260 commonName 1774delCT CFMDB_267 rnaNtChange deletion of A at 1782 CFMDB_267 commonName 1782delA CFMDB_270 rnaNtChange deletion of G at 1784 CFMDB_270 commonName 1784delG CFMDB_664 rnaNtChange deletion of C at 1802 CFMDB_664 commonName 1802delC CFMDB_277 rnaNtChange deletion of A at 1806 CFMDB_277 commonName 1806delA CFMDB_1287 rnaNtChange A to G at 1811+ 11 CFMDB_1287 commonName 1811+ 11A- >G CFMDB_1532 rnaNtChange 1811+ 1650 T>A CFMDB_1532 commonName 1811 + 1650 T>A CFMDB_1519 rnaNtChange 1811+ 16 T>C CFMDB_1519 commonName 1811+ 16T- >C CFMDB_282 rnaNtChange G to A at 1811+ 18 CFMDB_282 commonName 1811+ 18G- >A CFMDB_1505 rnaNtChange G to A at 1811+ 1 CFMDB_1505 commonName 1811 + 1 G>A CFMDB_281 rnaNtChange G to C at 1811+ 1 CFMDB_281 commonName 1811+ 1G- >C CFMDB_1388 rnaNtChange G to A at1811+ 34 CFMDB_1388 commonName 1811+ 34 G>A CFMDB_1608 rnaNtChange 1811+ 5 A>G CFMDB_1608 commonName 1811+ 5A- >G CFMDB_926 rnaNtChange T or C at 1812- 108 CFMDB_926 commonName 1812- 108T/C CFMDB_284 rnaNtChange G to A at 1812- 1 CFMDB_284 commonName 1812- 1G- >A CFMDB_1363 rnaNtChange T to C at 1812- 26 CFMDB_1363 commonName 1812- 26T- >C CFMDB_1088 rnaNtChange T or G at 1812- 59 CFMDB_1088 commonName 1812- 59T/G CFMDB_1575 rnaNtChange 1812 - 5 T>A CFMDB_1575 commonName 1812- 5 T- >A CFMDB_730 rnaNtChange insertion of C after 1813 (or 1814) CFMDB_730 commonName 1813insC CFMDB_15 rnaNtChange deletion of T at 182 CFMDB_15 commonName 182delT CFMDB_292 rnaNtChange deletion of T at 1833 CFMDB_292 commonName 1833delT CFMDB_893 rnaNtChange G to T at 185+ 1 CFMDB_893 commonName 185+ 1G- >T CFMDB_1032 rnaNtChange A to G at 185+ 45 CFMDB_1032 commonName 185+ 45A- >G CFMDB_16 rnaNtChange A to T at 185+ 4 CFMDB_16 commonName 185+ 4A- >T CFMDB_17 rnaNtChange C to G at 186- 13 CFMDB_17 commonName 186- 13C- >G CFMDB_1175 rnaNtChange deletion of G at 1870 CFMDB_1175 commonName 1870delG CFMDB_305 rnaNtChange insertion of T between 1871 and 1874 CFMDB_305 commonName 1874insT CFMDB_927 rnaNtChange T or A at 1898+ 152 CFMDB_927 commonName 1898+ 152T/A CFMDB_309 rnaNtChange G to A at 1898+ 1 CFMDB_309 commonName 1898+ 1G- >A CFMDB_311 rnaNtChange G to C at 1898+ 1 CFMDB_311 commonName 1898+ 1G- >C CFMDB_310 rnaNtChange G to T at 1898+ 1 CFMDB_310 commonName 1898+ 1G- >T CFMDB_1046 rnaNtChange G or A at 1898+ 30 CFMDB_1046 commonName 1898+ 30G/A CFMDB_312 rnaNtChange A to C at 1898+ 3 CFMDB_312 commonName 1898+ 3A- >C CFMDB_313 rnaNtChange A to G at 1898+ 3 CFMDB_313 commonName 1898+ 3A- >G CFMDB_740 rnaNtChange G to A at 1898+ 5 CFMDB_740 commonName 1898+ 5G- >A CFMDB_314 rnaNtChange G to T at 1898+ 5 CFMDB_314 commonName 1898+ 5G- >T CFMDB_315 rnaNtChange T to G at 1898+ 73 CFMDB_315 commonName 1898+ 73T- >G CFMDB_316 rnaNtChange deletion of GC from 1918 CFMDB_316 commonName 1918delGC CFMDB_317 rnaNtChange deletion of 7 bp (AAACTA) from 1924 CFMDB_317 commonName 1924del7 CFMDB_1593 rnaNtChange Deletion of G at nucleotide 1932 CFMDB_1593 commonName 1932delG CFMDB_318 rnaNtChange deletion of 84 bp from 1949 CFMDB_318 commonName 1949del84 CFMDB_327 rnaNtChange deletion of G at 2043 CFMDB_327 commonName 2043delG CFMDB_969 rnaNtChange deletion of TT from 2051 CFMDB_969 commonName 2051delTT CFMDB_328 rnaNtChange deletion of 9 bp CTCAAAACT to A at 2055 CFMDB_328 commonName 2055del9- >A CFMDB_824 rnaNtChange C or G at 2064 CFMDB_824 commonName 2064C/G CFMDB_981 rnaNtChange C or T at 2082 CFMDB_981 commonName 2082C/T CFMDB_1030 rnaNtChange A or G at 2092 CFMDB_1030 commonName 2092A/G CFMDB_1283 rnaNtChange Deletion of 13 bp and insertion of AGAAA at 2105- 2117 CFMDB_1283 commonName 2105- 2117del13insAGAAA CFMDB_1056 rnaNtChange deletion of A at 2108 CFMDB_1056 commonName 2108delA CFMDB_330 rnaNtChange deletion of A at 2113 CFMDB_330 commonName 2113delA CFMDB_1093 rnaNtChange deletion of CTAA at 2116 CFMDB_1093 commonName 2116delCTAA CFMDB_331 rnaNtChange deletion of AACT from 2118 CFMDB_331 commonName 2118del4 CFMDB_19 rnaNtChange deletion of G at 211 CFMDB_19 commonName 211delG CFMDB_334 rnaNtChange insertion of A after 2141 CFMDB_334 commonName 2141insA CFMDB_335 rnaNtChange deletion of T at 2143 CFMDB_335 commonName 2143delT CFMDB_337 rnaNtChange insertion of C after 2176 CFMDB_337 commonName 2176insC CFMDB_338 rnaNtChange A to G at 2183 and deletion of A at 2184 CFMDB_338 commonName 2183AA- >G CFMDB_758 rnaNtChange deletion of AA at 2183 CFMDB_758 commonName 2183delAA CFMDB_1437 rnaNtChange A to G at 2184 CFMDB_1437 commonName 2184A/G CFMDB_339 rnaNtChange deletion of A at 2184 CFMDB_339 commonName 2184delA CFMDB_340 rnaNtChange insertion of A after 2184 CFMDB_340 commonName 2184insA CFMDB_1060 rnaNtChange insertion of C at 2185 CFMDB_1060 commonName 2185insC CFMDB_1396 rnaNtChange Insertion of 4T at 2193 CFMDB_1396 commonName 2193ins4 CFMDB_1180 rnaNtChange insertion of G at 2215 CFMDB_1180 commonName 2215insG CFMDB_1594 rnaNtChange insertion of A at 2221 CFMDB_1594 commonName 2221insA CFMDB_766 rnaNtChange C or G at 2238 CFMDB_766 commonName 2238C/G CFMDB_1001 rnaNtChange C or T at 223 CFMDB_1001 commonName 223C/T CFMDB_1333 rnaNtChange Deletion of 7 bp and insertion of GT at 2289- 2295 CFMDB_1333 commonName 2289- 2295del7bpinsGT CFMDB_348 rnaNtChange insertion of A after 2307 CFMDB_348 commonName 2307insA CFMDB_587 rnaNtChange Deletion of 18 bp from 232 CFMDB_587 commonName 232del18 CFMDB_1153 rnaNtChange deletion of A at 2335 CFMDB_1153 commonName 2335delA CFMDB_351 rnaNtChange deletion of G at 2347 CFMDB_351 commonName 2347delG CFMDB_352 rnaNtChange deletion of 8 bp from 2372 CFMDB_352 commonName 2372del8 CFMDB_715 rnaNtChange C or T at 2377 CFMDB_715 commonName 2377C/T CFMDB_24 rnaNtChange insertion of A after 237 CFMDB_24 commonName 237insA CFMDB_1621 rnaNtChange deletion of CC at 2406 CFMDB_1621 commonName 2406delCC CFMDB_1617 rnaNtChange G to A at 2412 CFMDB_1617 commonName 2412G/A CFMDB_1390 rnaNtChange G to T at 2418 CFMDB_1390 commonName 2418GG>T CFMDB_25 rnaNtChange deletion of AT from 241 CFMDB_25 commonName 241delAT CFMDB_354 rnaNtChange deletion of G at 2423 CFMDB_354 commonName 2423delG CFMDB_703 rnaNtChange deletion of TA from 244 CFMDB_703 commonName 244delTA CFMDB_1207 rnaNtChange deletion of AC at 2456 CFMDB_1207 commonName 2456delAC CFMDB_1208 rnaNtChange insertion of 8bp after 2493 CFMDB_1208 commonName 2493ins8 CFMDB_359 rnaNtChange insertion of C after 2522 CFMDB_359 commonName 2522insC CFMDB_767 rnaNtChange A or G at 2553 CFMDB_767 commonName 2553A/G CFMDB_361 rnaNtChange insertion of AT after 2556 CFMDB_361 commonName 2556insAT CFMDB_362 rnaNtChange insertion of T after 2566 CFMDB_362 commonName 2566insT CFMDB_1504 rnaNtChange deletion of T at 2585 CFMDB_1504 commonName 2585delT CFMDB_365 rnaNtChange deletion of T at 2603/4 CFMDB_365 commonName 2603delT CFMDB_811 rnaNtChange G or A at 2622+ 14 CFMDB_811 commonName 2622+ 14G/A CFMDB_369 rnaNtChange G to A at 2622+ 1 CFMDB_369 commonName 2622+ 1G- >A CFMDB_1196 rnaNtChange G to T at 2622+ 1 CFMDB_1196 commonName 2622+ 1G- >T CFMDB_849 rnaNtChange deletion of TAGGTA from 2622+ 2 CFMDB_849 commonName 2622+ 2del6 CFMDB_1426 rnaNtChange T to C at 2622+ 2 CFMDB_1426 commonName 2622+ 2T>C CFMDB_1595 rnaNtChange 2623- 11 C>T CFMDB_1595 commonName 2623- 11 C- >T CFMDB_1612 rnaNtChange 2623- 23 A>G CFMDB_1612 commonName 2623- 23A- >G CFMDB_1309 rnaNtChange A to G at 2623- 2 CFMDB_1309 commonName 2623- 2A- >G CFMDB_1637 rnaNtChange Deletion of T at 2634 CFMDB_1637 commonName 2634delT CFMDB_837 rnaNtChange insertion of T after 2634 CFMDB_837 commonName 2634insT CFMDB_1002 rnaNtChange A or T at 263 CFMDB_1002 commonName 263A/T CFMDB_879 rnaNtChange deletion of T at 2640 CFMDB_879 commonName 2640delT CFMDB_768 rnaNtChange T or C at 2691 CFMDB_768 commonName 2691T/C CFMDB_1181 rnaNtChange deletion of T at 2694 CFMDB_1181 commonName 2694delT CFMDB_1114 rnaNtChange T or C at 2694 CFMDB_1114 commonName 2694T/C CFMDB_769 rnaNtChange T or G at 2694 CFMDB_769 commonName 2694T/G CFMDB_759 rnaNtChange G or A at 2703 CFMDB_759 commonName 2703G/A CFMDB_375 rnaNtChange deletion of T at 2711 CFMDB_375 commonName 2711delT CFMDB_376 rnaNtChange deletion of 11 bp from 2721 CFMDB_376 commonName 2721del11 CFMDB_701 rnaNtChange deletion of TT from 2723 CFMDB_701 commonName 2723delTT CFMDB_1081 rnaNtChange insertion of A at 2732 CFMDB_1081 commonName 2732insA CFMDB_378 rnaNtChange Deletion of G at 2734 with insertion of AT CFMDB_378 commonName 2734G- >AT CFMDB_770 rnaNtChange G or A at 2736 CFMDB_770 commonName 2736G/A CFMDB_1596 rnaNtChange Deletion of C at nucleotide 2747 CFMDB_1596 commonName 2747delC CFMDB_671 rnaNtChange T to A at 2751+ 2 CFMDB_671 commonName 2751+ 2T- >A CFMDB_380 rnaNtChange A to G at 2751+ 3 CFMDB_380 commonName 2751+ 3A- >G CFMDB_379 rnaNtChange G to A at 2751 CFMDB_379 commonName 2751G- >A CFMDB_929 rnaNtChange C or G at 2752- 15 CFMDB_929 commonName 2752- 15C/G CFMDB_1358 rnaNtChange G to A at 2752- 17 CFMDB_1358 commonName 2752- 17G/A CFMDB_1017 rnaNtChange G to C at 2752- 1 CFMDB_1017 commonName 2752- 1G- >C CFMDB_382 rnaNtChange G to T at 2752- 1 CFMDB_382 commonName 2752- 1G- >T CFMDB_928 rnaNtChange A or G at 2752- 22 CFMDB_928 commonName 2752- 22A/G CFMDB_381 rnaNtChange A to G at 2752- 26 CFMDB_381 commonName 2752- 26A- >G CFMDB_1432 rnaNtChange 2752- 674_3499+ 198del9855bp CFMDB_1432 commonName 2752- 674_3499+ 198del9855 CFMDB_1311 rnaNtChange T to C at 2752- 6 CFMDB_1311 commonName 2752- 6T- >C CFMDB_1310 rnaNtChange C to T at 2752- 97 CFMDB_1310 commonName 2752- 97C- >T CFMDB_383 rnaNtChange deletion of 8 bp from 2766 CFMDB_383 commonName 2766del8 CFMDB_1478 rnaNtChange Deletion of 16 nucleotides from 2787 CFMDB_1478 commonName 2787del16 CFMDB_835 rnaNtChange insertion of A after 2789+ 2 CFMDB_835 commonName 2789+ 2insA CFMDB_930 rnaNtChange T or C at 2789+ 32 CFMDB_930 commonName 2789+ 32T/C CFMDB_386 rnaNtChange deletion of G at 2789+ 3 CFMDB_386 commonName 2789+ 3delG CFMDB_387 rnaNtChange G to A at 2789+ 5 CFMDB_387 commonName 2789+ 5G- >A CFMDB_389 rnaNtChange G to C at 2790- 1 CFMDB_389 commonName 2790- 1G- >C CFMDB_390 rnaNtChange G to T at 2790- 1 CFMDB_390 commonName 2790- 1G- >T CFMDB_932 rnaNtChange G or A at 2790- 21 CFMDB_932 commonName 2790- 21G/A CFMDB_388 rnaNtChange A to G at 2790- 2 CFMDB_388 commonName 2790- 2A- >G CFMDB_699 rnaNtChange A to G at 279 CFMDB_699 commonName 279A/G CFMDB_1620 rnaNtChange G or T at 2811 CFMDB_1620 commonName 2811G/T CFMDB_1392 rnaNtChange delete 4bp(CTCA) at 2819, insert 13 bp (TGAGTACTATGAG) at 2819 CFMDB_1392 commonName 2819del4bpins13bp CFMDB_771 rnaNtChange T or C at 2839 CFMDB_771 commonName 2839T/C CFMDB_976 rnaNtChange A or T at 2844 CFMDB_976 commonName 2844A/T CFMDB_32 rnaNtChange deletion of A at 284 CFMDB_32 commonName 284delA CFMDB_1095 rnaNtChange A or G at 2851 CFMDB_1095 commonName 2851A/G CFMDB_842 rnaNtChange C or T at 2856 CFMDB_842 commonName 2856C/T CFMDB_772 rnaNtChange G or T at 2858 CFMDB_772 commonName 2858G/T CFMDB_1564 rnaNtChange G to A at 2868 CFMDB_1564 commonName 2868 G/A CFMDB_394 rnaNtChange insertion of G after 2869 CFMDB_394 commonName 2869insG CFMDB_713 rnaNtChange insertion of AG after 2896 CFMDB_713 commonName 2896insAG CFMDB_773 rnaNtChange C or T at 2901 CFMDB_773 commonName 2901C/T CFMDB_399 rnaNtChange deletion of TT from 2907 CFMDB_399 commonName 2907delTT CFMDB_400 rnaNtChange deletion of T at 2909 CFMDB_400 commonName 2909delT CFMDB_1171 rnaNtChange A or G at 2940 CFMDB_1171 commonName 2940A/G CFMDB_1067 rnaNtChange insertion of T at 2942 CFMDB_1067 commonName 2942insT CFMDB_1018 rnaNtChange AT to C at 2948 CFMDB_1018 commonName 2948AT- >C CFMDB_690 rnaNtChange insertion of ATTGGAAA after 295 CFMDB_690 commonName 295ins8 CFMDB_35 rnaNtChange T to C at 296+ 12 CFMDB_35 commonName 296+ 12T- >C CFMDB_1331 rnaNtChange G to A at 296+ 1 CFMDB_1331 commonName 296+ 1G- >A CFMDB_33 rnaNtChange G to C at 296+ 1 CFMDB_33 commonName 296+ 1G- >C CFMDB_1130 rnaNtChange G to T at 296+ 1 CFMDB_1130 commonName 296+ 1G- >T CFMDB_1368 rnaNtChange A to G at 296+ 28 CFMDB_1368 commonName 296+ 28A- >G CFMDB_1336 rnaNtChange T to A at 296+ 2 CFMDB_1336 commonName 296+ 2T- >A CFMDB_34 rnaNtChange T to C at 296+ 2 CFMDB_34 commonName 296+ 2T- >C CFMDB_1401 rnaNtChange T to G at 296 + 2 CFMDB_1401 commonName 296+ 2T- >G CFMDB_971 rnaNtChange insertion of T after 296+ 3 CFMDB_971 commonName 296+ 3insT CFMDB_622 rnaNtChange G or A at 2967 CFMDB_622 commonName 2967G/A CFMDB_647 rnaNtChange A to T at 296+ 9 CFMDB_647 commonName 296+ 9A- >T CFMDB_1052 rnaNtChange T to G at 297- 10 CFMDB_1052 commonName 297- 10T- >G CFMDB_1187 rnaNtChange insertion of A at 297- 12 CFMDB_1187 commonName 297- 12insA CFMDB_36 rnaNtChange insertion of A after 297- 28 CFMDB_36 commonName 297- 28insA CFMDB_37 rnaNtChange A to G at 297- 2 CFMDB_37 commonName 297- 2A- >G CFMDB_850 rnaNtChange C to A at 297- 3 CFMDB_850 commonName 297- 3C- >A CFMDB_38 rnaNtChange C to T at 297- 3 CFMDB_38 commonName 297- 3C- >T CFMDB_1626 rnaNtChange A to G at 297- 45 CFMDB_1626 commonName 297- 45 A>G CFMDB_892 rnaNtChange A or G at 297- 50 CFMDB_892 commonName 297- 50A/G CFMDB_1343 rnaNtChange C to T at 297- 55 CFMDB_1343 commonName 297- 55C/T CFMDB_904 rnaNtChange A or C at 297- 67 CFMDB_904 commonName 297- 67A/C CFMDB_1555 rnaNtChange 297 - 73 A>G CFMDB_1555 commonName 297- 73 A/G CFMDB_407 rnaNtChange deletion of 32 bp from 2991 to 3022 CFMDB_407 commonName 2991del32 CFMDB_408 rnaNtChange deletion of G at 3007 CFMDB_408 commonName 3007delG CFMDB_39 rnaNtChange deletion of A at 300 CFMDB_39 commonName 300delA CFMDB_617 rnaNtChange deletion of A at 3028 CFMDB_617 commonName 3028delA CFMDB_774 rnaNtChange G or A at 3030 CFMDB_774 commonName 3030G/A CFMDB_1312 rnaNtChange T to C at 3040+ 23 CFMDB_1312 commonName 3040+ 23T- >C CFMDB_643 rnaNtChange T to C at 3040+ 2 CFMDB_643 commonName 3040+ 2T- >C CFMDB_1219 rnaNtChange deletion of GTATATT at 3041- 11 CFMDB_1219 commonName 3041- 11del7 CFMDB_1220 rnaNtChange T to G at 3041- 15 CFMDB_1220 commonName 3041- 15T- >G CFMDB_410 rnaNtChange G to A at 3041- 1 CFMDB_410 commonName 3041- 1G- >A CFMDB_1330 rnaNtChange A to G at 3041- 4 CFMDB_1330 commonName 3041- 4A- >G CFMDB_1563 rnaNtChange 3041 - 51 T>G CFMDB_1563 commonName 3041- 51 T/G CFMDB_934 rnaNtChange G or C at 3041- 71 CFMDB_934 commonName 3041- 71G/C CFMDB_933 rnaNtChange G or A at 3041- 92 CFMDB_933 commonName 3041- 92G/A CFMDB_411 rnaNtChange deletion of G at 3041 CFMDB_411 commonName 3041delG CFMDB_412 rnaNtChange deletion of GA from 3056 CFMDB_412 commonName 3056delGA CFMDB_42 rnaNtChange deletion of TAGA from 306 CFMDB_42 commonName 306delTAGA CFMDB_43 rnaNtChange insertion of A at 306 CFMDB_43 commonName 306insA CFMDB_717 rnaNtChange deletion of TT from 3079 CFMDB_717 commonName 3079delTT CFMDB_416 rnaNtChange insertion of A after 3100 CFMDB_416 commonName 3100insA CFMDB_1313 rnaNtChange G to A at 3120+ 198 CFMDB_1313 commonName 3120+ 198G- >A CFMDB_419 rnaNtChange G to A at 3120+ 1 CFMDB_419 commonName 3120+ 1G- >A CFMDB_1645 rnaNtChange A to T at 3120+ 35 CFMDB_1645 commonName 3120+ 35 A>T CFMDB_1344 rnaNtChange Delete A at 3120+ 41 CFMDB_1344 commonName 3120+ 41delA CFMDB_1172 rnaNtChange A or G at 3120+ 45 CFMDB_1172 commonName 3120+ 45A/G CFMDB_418 rnaNtChange G to A at 3120 CFMDB_418 commonName 3120G- >A CFMDB_422 rnaNtChange G to A at 3121- 1 CFMDB_422 commonName 3121- 1G- >A CFMDB_421 rnaNtChange A to G at 3121- 2 CFMDB_421 commonName 3121- 2A- >G CFMDB_420 rnaNtChange A to T at 3121- 2 CFMDB_420 commonName 3121- 2A- >T CFMDB_1337 rnaNtChange C to G at 3121- 3 CFMDB_1337 commonName 3121- 3C- >G CFMDB_1433 rnaNtChange 3121- 977_3499+ 248del2515bp CFMDB_1433 commonName 3121- 977_3499+ 248del2515 CFMDB_853 rnaNtChange deletion of ATTA from 3126 CFMDB_853 commonName 3126del4 CFMDB_423 rnaNtChange deletion of 4 bp from 3129 CFMDB_423 commonName 3129del4 CFMDB_1289 rnaNtChange delete 15 nucleotide at 3130 CFMDB_1289 commonName 3130del15 CFMDB_1376 rnaNtChange Deletion of A at 3130 CFMDB_1376 commonName 3130delA CFMDB_424 rnaNtChange deletion of 15 bp from 3130, 3131, or 3132 CFMDB_424 commonName 3131del15 CFMDB_425 rnaNtChange deletion of TG from 3132 CFMDB_425 commonName 3132delTG CFMDB_1470 rnaNtChange del AGCTATAGC from 3141 CFMDB_1470 commonName 3141del9 CFMDB_1262 rnaNtChange delete T at 3152 CFMDB_1262 commonName 3152delT CFMDB_428 rnaNtChange deletion of T at 3153 CFMDB_428 commonName 3153delT CFMDB_875 rnaNtChange deletion of G at 3154 CFMDB_875 commonName 3154delG CFMDB_1080 rnaNtChange deletion of C at 3171 CFMDB_1080 commonName 3171delC CFMDB_429 rnaNtChange insertion of C after 3171 CFMDB_429 commonName 3171insC CFMDB_582 rnaNtChange deletion of AC from 3173 CFMDB_582 commonName 3173delAC CFMDB_430 rnaNtChange deletion of AGTGAT from 3195 to 3200 CFMDB_430 commonName 3195del6 CFMDB_431 rnaNtChange deletion of 54 bp from 3196 CFMDB_431 commonName 3196del54 CFMDB_828 rnaNtChange deletion of ATAGTG from 3199 CFMDB_828 commonName 3199del6 CFMDB_1469 rnaNtChange 3238delA CFMDB_1469 commonName 3238delA CFMDB_827 rnaNtChange C or G at 3271+ 101 CFMDB_827 commonName 3271+ 101C/G CFMDB_1104 rnaNtChange T to G at 3271+ 183 CFMDB_1104 commonName 3271+ 183 T to G CFMDB_937 rnaNtChange C or T at 3271+ 18 CFMDB_937 commonName 3271+ 18C/T CFMDB_434 rnaNtChange G to A at 3271+ 1 CFMDB_434 commonName 3271+ 1G- >A CFMDB_938 rnaNtChange A or T at 3271+ 42 CFMDB_938 commonName 3271+ 42A/T CFMDB_1508 rnaNtChange A to G at 3271+ 8 CFMDB_1508 commonName 3271+ 8A>G CFMDB_970 rnaNtChange deletion of GG at 3271 CFMDB_970 commonName 3271delGG CFMDB_1351 rnaNtChange A to G at 3272- 11 CFMDB_1351 commonName 3272- 11A- >G CFMDB_437 rnaNtChange G to A at 3272- 1 CFMDB_437 commonName 3272- 1G- >A CFMDB_435 rnaNtChange A to G at 3272- 26 CFMDB_435 commonName 3272- 26A- >G CFMDB_1089 rnaNtChange A or G at 3272- 33 CFMDB_1089 commonName 3272- 33A/G CFMDB_1562 rnaNtChange 3272 - 42 G>T CFMDB_1562 commonName 3272- 42 G/T CFMDB_436 rnaNtChange A to G at 3272- 4 CFMDB_436 commonName 3272- 4A- >G CFMDB_432 rnaNtChange deletion of 704 bp from 3272- 54 CFMDB_432 commonName 3272- 54del704 CFMDB_433 rnaNtChange A to T at 3272- 9 CFMDB_433 commonName 3272- 9A- >T CFMDB_440 rnaNtChange deletion of A at 3293 CFMDB_440 commonName 3293delA CFMDB_901 rnaNtChange A or G at - 329 upstream of the cap site CFMDB_901 commonName - 329A/G CFMDB_444 rnaNtChange insertion of CTATG after 3320 CFMDB_444 commonName 3320ins5 CFMDB_779 rnaNtChange C or T at 3333 CFMDB_779 commonName 3333C/T CFMDB_780 rnaNtChange C or T at 3336 CFMDB_780 commonName 3336C/T CFMDB_458 rnaNtChange deletion of CT from 3359 CFMDB_458 commonName 3359delCT CFMDB_781 rnaNtChange A or G at 3384 CFMDB_781 commonName 3384A/G CFMDB_1115 rnaNtChange deletion of C at 3396 CFMDB_1115 commonName 3396delC CFMDB_3 rnaNtChange G to A at - 33 CFMDB_3 commonName - 33G- >A CFMDB_1434 rnaNtChange Partial deletion of exon 17b. It removes 355 bp, i.e. from nt 3413 (in; codon 1094) to 3499+ 268 in intron 17b; the sequence "TGTTAA" is; inserted at the breakpoints. CFMDB_1434 commonName 3413del355_insTGTTAA CFMDB_782 rnaNtChange A or T at 3417 CFMDB_782 commonName 3417A/T CFMDB_465 rnaNtChange deletion of T at 3419 CFMDB_465 commonName 3419delT CFMDB_466 rnaNtChange deletion of C at 3423 CFMDB_466 commonName 3423delC CFMDB_1003 rnaNtChange T or C at 345 CFMDB_1003 commonName 345T/C CFMDB_783 rnaNtChange T or C at 3471 CFMDB_783 commonName 3471T/C CFMDB_1157 rnaNtChange C or A at 3477 CFMDB_1157 commonName 3477C/A CFMDB_48 rnaNtChange deletion of C at 347 CFMDB_48 commonName 347delC CFMDB_474 rnaNtChange deletion of A at 3495 CFMDB_474 commonName 3495delA CFMDB_478 rnaNtChange T to C at 3499+ 2 CFMDB_478 commonName 3499+ 2T- >C CFMDB_940 rnaNtChange G or A at 3499+ 37 CFMDB_940 commonName 3499+ 37G/A CFMDB_677 rnaNtChange A to G at 3499+ 3 CFMDB_677 commonName 3499+ 3A- >G CFMDB_941 rnaNtChange T or C at 3499+ 45 CFMDB_941 commonName 3499+ 45T/C CFMDB_476 rnaNtChange A to G at 3499+ 6 CFMDB_476 commonName 3499+ 6A- >G CFMDB_1316 rnaNtChange T to G at 3499+ 7 CFMDB_1316 commonName 3499+ 7T- >G CFMDB_943 rnaNtChange A or C at 3500- 140 CFMDB_943 commonName 3500- 140A/C CFMDB_1588 rnaNtChange 3500 - 1 G>A CFMDB_1588 commonName 3500 - 1 G to A CFMDB_967 rnaNtChange A to G at 3500- 2 CFMDB_967 commonName 3500- 2A- >G CFMDB_693 rnaNtChange G or A at 3500- 44 CFMDB_693 commonName 3500- 44G/A CFMDB_1055 rnaNtChange A to G at 3523 CFMDB_1055 commonName 3523A- >G CFMDB_881 rnaNtChange AC to GTA from 3532 CFMDB_881 commonName 3532AC- >GTA CFMDB_483 rnaNtChange insertion of AGTA after position 3556 CFMDB_483 commonName 3556insAGTA CFMDB_838 rnaNtChange deletion of T at 3577 CFMDB_838 commonName 3577delT CFMDB_52 rnaNtChange insertion of T after 359 CFMDB_52 commonName 359insT CFMDB_845 rnaNtChange insertion of T after 3600+ 2 CFMDB_845 commonName 3600+ 2insT CFMDB_1174 rnaNtChange T to C at 3600+ 2 CFMDB_1174 commonName 3600+ 2T- >C CFMDB_694 rnaNtChange G or A at 3600+ 42 CFMDB_694 commonName 3600+ 42G/A CFMDB_488 rnaNtChange G to A at 3600+ 5 CFMDB_488 commonName 3600+ 5G- >A CFMDB_487 rnaNtChange G to A at 3600 CFMDB_487 commonName 3600G- >A CFMDB_945 rnaNtChange G or C at 3601- 111 CFMDB_945 commonName 3601- 111G/C CFMDB_489 rnaNtChange T to C at 3601- 17 CFMDB_489 commonName 3601- 17T- >C CFMDB_608 rnaNtChange T to C at 3601- 20 CFMDB_608 commonName 3601- 20T- >C CFMDB_490 rnaNtChange A to G at 3601- 2 CFMDB_490 commonName 3601- 2A- >G CFMDB_944 rnaNtChange C or A at 3601- 65 CFMDB_944 commonName 3601- 65C/A CFMDB_1334 rnaNtChange Insertion of T at 360- 365 CFMDB_1334 commonName 360- 365insT CFMDB_805 rnaNtChange deletion of T at 360 CFMDB_805 commonName 360delT CFMDB_784 rnaNtChange G or T at 3617 CFMDB_784 commonName 3617G/T CFMDB_607 rnaNtChange insertion of T after 3622 CFMDB_607 commonName 3622insT CFMDB_1350 rnaNtChange Deletion of T at 3629 CFMDB_1350 commonName 3629delT CFMDB_1560 rnaNtChange C to T at 3636 CFMDB_1560 commonName 3636 C/T CFMDB_1053 rnaNtChange C to T at - 363 CFMDB_1053 commonName - 363C/T CFMDB_495 rnaNtChange deletion of C at 3659 CFMDB_495 commonName 3659delC CFMDB_497 rnaNtChange deletion of A at 3662 CFMDB_497 commonName 3662delA CFMDB_498 rnaNtChange deletion of 4 bp from 3667 CFMDB_498 commonName 3667del4 CFMDB_499 rnaNtChange insertion of TCAA after 3667 CFMDB_499 commonName 3667ins4 CFMDB_1050 rnaNtChange deletion of A at 3670 CFMDB_1050 commonName 3670delA CFMDB_984 rnaNtChange G to A at 3696 CFMDB_984 commonName 3696G/A CFMDB_503 rnaNtChange deletion of G at 3724 CFMDB_503 commonName 3724delG CFMDB_786 rnaNtChange G or T at 3726 CFMDB_786 commonName 3726G/T CFMDB_504 rnaNtChange deletion of A at 3732 and A to G at 3730 CFMDB_504 commonName 3732delA CFMDB_505 rnaNtChange deletion of A at 3737 CFMDB_505 commonName 3737delA CFMDB_507 rnaNtChange deletion of AG from 3750 CFMDB_507 commonName 3750delAG CFMDB_960 rnaNtChange deletion of G between 3751 and 3755 CFMDB_960 commonName 3755delG CFMDB_1559 rnaNtChange A to C at 3780 CFMDB_1559 commonName 3780 A/C CFMDB_890 rnaNtChange insertion of A at 3789 CFMDB_890 commonName 3789insA CFMDB_787 rnaNtChange C or T at 3791 CFMDB_787 commonName 3791C/T CFMDB_510 rnaNtChange deletion of C at 3791 CFMDB_510 commonName 3791delC CFMDB_1335 rnaNtChange Insertion of T at 379- 381 CFMDB_1335 commonName 379- 381insT CFMDB_1230 rnaNtChange deletion of T at 3821- 3823 CFMDB_1230 commonName 3821- 3823del T CFMDB_511 rnaNtChange deletion of T at 3821 CFMDB_511 commonName 3821delT CFMDB_517 rnaNtChange G to A at 3849+ 1 CFMDB_517 commonName 3849+ 1G- >A CFMDB_1319 rnaNtChange A to G at 3849+ 40 CFMDB_1319 commonName 3849+ 40A- >G CFMDB_1320 rnaNtChange G to A at 3849+ 45 CFMDB_1320 commonName 3849+ 45G- >A CFMDB_519 rnaNtChange A to G at 3849+ 4 CFMDB_519 commonName 3849+ 4A- >G CFMDB_847 rnaNtChange G to A at 3849+ 5 CFMDB_847 commonName 3849+ 5G- >A CFMDB_516 rnaNtChange G to A at 3849 CFMDB_516 commonName 3849G- >A CFMDB_520 rnaNtChange G to A at 3850- 1 CFMDB_520 commonName 3850- 1G- >A CFMDB_521 rnaNtChange T to G at 3850- 3 CFMDB_521 commonName 3850- 3T- >G CFMDB_1616 rnaNtChange 3850- 41 C>G CFMDB_1616 commonName 3850- 41C/G CFMDB_741 rnaNtChange T or C at 3850- 79 CFMDB_741 commonName 3850- 79T/C CFMDB_522 rnaNtChange insertion of 31 bp after 3860 CFMDB_522 commonName 3860ins31 CFMDB_788 rnaNtChange A or G at 3867 CFMDB_788 commonName 3867A/G CFMDB_808 rnaNtChange deletion of A at 3876 CFMDB_808 commonName 3876delA CFMDB_1040 rnaNtChange deletion of G at 3878 CFMDB_1040 commonName 3878delG CFMDB_1615 rnaNtChange G or A at 3891 CFMDB_1615 commonName 3891 G/A CFMDB_532 rnaNtChange insertion of C after 3898 CFMDB_532 commonName 3898insC CFMDB_533 rnaNtChange insertion of T after 3905 CFMDB_533 commonName 3905insT CFMDB_534 rnaNtChange insertion of G after 3906 CFMDB_534 commonName 3906insG CFMDB_606 rnaNtChange deletion of 10 bp from 3922 and replacement with 3921 CFMDB_606 commonName 3922del10- >C CFMDB_789 rnaNtChange C or T at 3939 CFMDB_789 commonName 3939C/T CFMDB_839 rnaNtChange deletion of GT from 3944 CFMDB_839 commonName 3944delGT CFMDB_57 rnaNtChange deletion of TT from 394 CFMDB_57 commonName 394delTT CFMDB_1332 rnaNtChange Deletion of A at 3960- 3961 CFMDB_1332 commonName 3960- 3961delA CFMDB_946 rnaNtChange T or G at 4005+ 117 CFMDB_946 commonName 4005+ 117T/G CFMDB_947 rnaNtChange 8T or 6T at 4005+ 121 CFMDB_947 commonName 4005+ 121delTT CFMDB_545 rnaNtChange G to A at 4005+ 1 CFMDB_545 commonName 4005+ 1G- >A CFMDB_948 rnaNtChange 6A or 7A at 4005+ 28 CFMDB_948 commonName 4005+ 28insA CFMDB_1321 rnaNtChange G to C at 4005+ 29 CFMDB_1321 commonName 4005+ 29G- >C CFMDB_756 rnaNtChange T to C at 4005+ 2 CFMDB_756 commonName 4005+ 2T- >C CFMDB_1322 rnaNtChange A to G at 4005+ 33 CFMDB_1322 commonName 4005+ 33A- >G CFMDB_614 rnaNtChange deletion of T at 4006- 103 CFMDB_614 commonName 4006- 103delT CFMDB_1628 rnaNtChange T to G ar 4006- 11 CFMDB_1628 commonName 4006- 11 t>G CFMDB_644 rnaNtChange C to G at 4006- 14 CFMDB_644 commonName 4006- 14C- >G CFMDB_547 rnaNtChange deletion of 3 bp from 4006- 19 CFMDB_547 commonName 4006- 19del3 CFMDB_949 rnaNtChange G or A at 4006- 200 CFMDB_949 commonName 4006- 200G/A CFMDB_1389 rnaNtChange Deletion from 4006- 46 to 4006- 42 CFMDB_1389 commonName 4006- 46delTATTT CFMDB_681 rnaNtChange A to G at 4006- 4 CFMDB_681 commonName 4006- 4A- >G CFMDB_1557 rnaNtChange 4006 - 50 A>C CFMDB_1557 commonName 4006- 50 A/C CFMDB_546 rnaNtChange deletion of 14 bp from 4006- 61 to 4006- 47 CFMDB_546 commonName 4006- 61del14 CFMDB_727 rnaNtChange T to A at 4006- 8 CFMDB_727 commonName 4006- 8T- >A CFMDB_1051 rnaNtChange deletion of A at 4006 CFMDB_1051 commonName 4006delA CFMDB_548 rnaNtChange deletion of TATT from 4010 CFMDB_548 commonName 4010del4 CFMDB_549 rnaNtChange deletion of A at 4015 CFMDB_549 commonName 4015delA CFMDB_550 rnaNtChange insertion of T at 4016 CFMDB_550 commonName 4016insT CFMDB_1417 rnaNtChange insertion of T at 4022 CFMDB_1417 commonName 4022insT CFMDB_791 rnaNtChange A or G at 4029 CFMDB_791 commonName 4029A/G CFMDB_552 rnaNtChange deletion of A at 4040 CFMDB_552 commonName 4040delA CFMDB_1599 rnaNtChange Deletion of nucleotides 4041 to 4046 and insertion of TGT CFMDB_1599 commonName 4041_4046del6insTGT CFMDB_555 rnaNtChange insertion of CC after 4048 CFMDB_555 commonName 4048insCC CFMDB_63 rnaNtChange G to A at 405+ 1 CFMDB_63 commonName 405+ 1G- >A CFMDB_64 rnaNtChange A to C at 405+ 3 CFMDB_64 commonName 405+ 3A- >C CFMDB_840 rnaNtChange A or G at 405+ 42 CFMDB_840 commonName 405+ 42A/G CFMDB_905 rnaNtChange G or T at 405+ 46 CFMDB_905 commonName 405+ 46G/T CFMDB_65 rnaNtChange A to G at 405+ 4 CFMDB_65 commonName 405+ 4A- >G CFMDB_66 rnaNtChange C to G at 406- 10 CFMDB_66 commonName 406- 10C- >G CFMDB_906 rnaNtChange T or A at 406- 112 CFMDB_906 commonName 406- 112T/A CFMDB_1203 rnaNtChange T or C at 406- 13 CFMDB_1203 commonName 406- 13T/C CFMDB_885 rnaNtChange G to A at 406- 1 CFMDB_885 commonName 406- 1G- >A CFMDB_69 rnaNtChange G to C at 406- 1 CFMDB_69 commonName 406- 1G- >C CFMDB_70 rnaNtChange G to T at 406- 1 CFMDB_70 commonName 406- 1G- >T CFMDB_68 rnaNtChange A to C at 406- 2 CFMDB_68 commonName 406- 2A- >C CFMDB_631 rnaNtChange A to G at 406- 2 CFMDB_631 commonName 406- 2A- >G CFMDB_848 rnaNtChange T to C at 406- 3 CFMDB_848 commonName 406- 3T- >C CFMDB_1403 rnaNtChange T to G at 406- 5 CFMDB_1403 commonName 406- 5T- >G CFMDB_67 rnaNtChange T to C at 406- 6 CFMDB_67 commonName 406- 6T- >C CFMDB_1065 rnaNtChange A or G at 406- 83 CFMDB_1065 commonName 406- 83A/G CFMDB_793 rnaNtChange T or C at 4086 CFMDB_793 commonName 4086T/C CFMDB_1601 rnaNtChange 4095+ 1 G>C CFMDB_1601 commonName 4095+ 1G>C CFMDB_1370 rnaNtChange 4095+ 2 T>A CFMDB_1370 commonName 4095+ 2T>A CFMDB_612 rnaNtChange T or C at 4095+ 42 CFMDB_612 commonName 4095+ 42T/C CFMDB_1260 rnaNtChange G to A at 4096- 1 CFMDB_1260 commonName 4096- 1G- >A CFMDB_950 rnaNtChange T or C at 4096- 283 CFMDB_950 commonName 4096- 283T/C CFMDB_684 rnaNtChange G to A at 4096- 28 CFMDB_684 commonName 4096- 28G- >A CFMDB_709 rnaNtChange C to G at 4096- 3 CFMDB_709 commonName 4096- 3C- >G CFMDB_1517 rnaNtChange G to C at 40 CFMDB_1517 commonName 40G/C CFMDB_633 rnaNtChange deletion of T at 4108 CFMDB_633 commonName 4108delT CFMDB_560 rnaNtChange ATA to TT from 4114 CFMDB_560 commonName 4114ATA- >TT CFMDB_636 rnaNtChange deletion of ACCAAAG from 412 and insertion of TA CFMDB_636 commonName 412del7- >TA CFMDB_1484 rnaNtChange Deletion of CTAAGCC at 4168 CFMDB_1484 commonName 4168delCTAAGCC CFMDB_1602 rnaNtChange insertion of A at 4171 CFMDB_1602 commonName 4171insA CFMDB_561 rnaNtChange deletion of GC from 4172 CFMDB_561 commonName 4172delGC CFMDB_562 rnaNtChange deletion of C at 4173 CFMDB_562 commonName 4173delC CFMDB_1202 rnaNtChange TAG to AA at 4203 CFMDB_1202 commonName 4203TAG- >AA CFMDB_1472 rnaNtChange TGTT to AA from 4209 CFMDB_1472 commonName 4209TGTT- >AA CFMDB_565 rnaNtChange insertion of T after 4218 CFMDB_565 commonName 4218insT CFMDB_1037 rnaNtChange A to G at 4269- 108 CFMDB_1037 commonName 4269- 108A- >G CFMDB_621 rnaNtChange G or A at 4269- 139 CFMDB_621 commonName 4269- 139G/A CFMDB_569 rnaNtChange deletion of C at 4271 CFMDB_569 commonName 4271delC CFMDB_1452 rnaNtChange Deletion of nucleotide A at 4272 position CFMDB_1452 commonName 4272delA CFMDB_570 rnaNtChange insertion of A after 4279 CFMDB_570 commonName 4279insA CFMDB_573 rnaNtChange deletion of TC from 4326 CFMDB_573 commonName 4326delTC CFMDB_1111 rnaNtChange deletion of TG at 4332 CFMDB_1111 commonName 4332delTG CFMDB_794 rnaNtChange G or A at 4356 CFMDB_794 commonName 4356G/A CFMDB_76 rnaNtChange insertion of A after 435 CFMDB_76 commonName 435insA CFMDB_917 rnaNtChange T to C at 4374+ 10 CFMDB_917 commonName 4374+ 10T- >C CFMDB_951 rnaNtChange A or G at 4374+ 13 CFMDB_951 commonName 4374+ 13A/G CFMDB_952 rnaNtChange A or G at 4374+ 14 CFMDB_952 commonName 4374+ 14A/G CFMDB_576 rnaNtChange G to A at 4374+ 1 CFMDB_576 commonName 4374+ 1G- >A CFMDB_577 rnaNtChange G to T at 4374+ 1 CFMDB_577 commonName 4374+ 1G- >T CFMDB_1604 rnaNtChange 4374_4374+ 1GG>TT CFMDB_1604 commonName 4374_4374+ 1GG>TT CFMDB_953 rnaNtChange C or T at 4375- 15 CFMDB_953 commonName 4375- 15C/T CFMDB_1038 rnaNtChange G to C at 4375- 1 CFMDB_1038 commonName 4375- 1G- >C CFMDB_1204 rnaNtChange deletion of T at 375- 36 CFMDB_1204 commonName 4375- 36delT CFMDB_578 rnaNtChange deletion of A at 4382 CFMDB_578 commonName 4382delA CFMDB_795 rnaNtChange C or T at 4404 CFMDB_795 commonName 4404C/T CFMDB_78 rnaNtChange deletion of A at 441 and T to A at 486 CFMDB_78 commonName 441delA CFMDB_846 rnaNtChange insertion of GA after 4428 CFMDB_846 commonName 4428insGA CFMDB_79 rnaNtChange deletion of A at 444 CFMDB_79 commonName 444delA CFMDB_1556 rnaNtChange C to T at 4464 CFMDB_1556 commonName 4464 C/T CFMDB_735 rnaNtChange deletion of GCTTCCTA from 451 CFMDB_735 commonName 451del8 CFMDB_796 rnaNtChange G or A at 4521 CFMDB_796 commonName 4521G/A CFMDB_1550 rnaNtChange G to A at 4557 CFMDB_1550 commonName 4557 G/A CFMDB_1162 rnaNtChange T or C at 4563 CFMDB_1162 commonName 4563T/C CFMDB_1324 rnaNtChange G to A at 4575+ 2 CFMDB_1324 commonName 4575+ 2G- >A CFMDB_81 rnaNtChange TAT to G at 457 CFMDB_81 commonName 457TAT- >G CFMDB_863 rnaNtChange deletion of AT at 458 CFMDB_863 commonName 458delAT CFMDB_83 rnaNtChange deletion of G at 460 CFMDB_83 commonName 460delG CFMDB_1410 rnaNtChange A to G at - 461 CFMDB_1410 commonName - 461A- >G CFMDB_1039 rnaNtChange T to G at 4655 CFMDB_1039 commonName 4655T- >G CFMDB_1062 rnaNtChange G or A at 465 CFMDB_1062 commonName 465G/A CFMDB_1552 rnaNtChange C to T at 489 CFMDB_1552 commonName 489 C/T CFMDB_1423 rnaNtChange deletion of C at 489 CFMDB_1423 commonName 489delC CFMDB_1109 rnaNtChange C or G at 48 CFMDB_1109 commonName 48C/G CFMDB_1005 rnaNtChange G or A at 492 CFMDB_1005 commonName 492G/A CFMDB_1447 rnaNtChange T deleted CFMDB_1447 commonName 519delT CFMDB_857 rnaNtChange deletion of T at 525 CFMDB_857 commonName 525delT CFMDB_97 rnaNtChange deletion of CTCC from 541 CFMDB_97 commonName 541del4 CFMDB_96 rnaNtChange deletion of C at 541 CFMDB_96 commonName 541delC CFMDB_1006 rnaNtChange T or C at 545 CFMDB_1006 commonName 545T/C CFMDB_1118 rnaNtChange insertion of CTA at 546 CFMDB_1118 commonName 546insCTA CFMDB_1589 rnaNtChange insertion of GA between nucleotides 547 and 548 CFMDB_1589 commonName 547insGA CFMDB_650 rnaNtChange insertion of TA after 547 CFMDB_650 commonName 547insTA CFMDB_711 rnaNtChange C to T at 549 CFMDB_711 commonName 549C/T CFMDB_100 rnaNtChange insertion of A after 552 CFMDB_100 commonName 552insA CFMDB_102 rnaNtChange deletion of A at 556 CFMDB_102 commonName 556delA CFMDB_103 rnaNtChange deletion of T at 557 CFMDB_103 commonName 557delT CFMDB_600 rnaNtChange deletion of C at 565 CFMDB_600 commonName 565delC CFMDB_104 rnaNtChange deletion of A at 574 CFMDB_104 commonName 574delA CFMDB_1295 rnaNtChange Insert CTA at 576 CFMDB_1295 commonName 576InsCTA CFMDB_109 rnaNtChange deletion of 18 bp from 591 CFMDB_109 commonName 591del18 CFMDB_110 rnaNtChange insertion of T after 605 CFMDB_110 commonName 605insT CFMDB_112 rnaNtChange G to T at 621+ 1 CFMDB_112 commonName 621+ 1G- >T CFMDB_113 rnaNtChange T to C at 621+ 2 CFMDB_113 commonName 621+ 2T- >C CFMDB_114 rnaNtChange T to G at 621+ 2 CFMDB_114 commonName 621+ 2T- >G CFMDB_1061 rnaNtChange C or G at 621+ 31 CFMDB_1061 commonName 621+ 31C/G CFMDB_836 rnaNtChange A to G at 621+ 3 CFMDB_836 commonName 621+ 3A- >G CFMDB_111 rnaNtChange G to A at 621 CFMDB_111 commonName 621G- >A CFMDB_822 rnaNtChange A or G at 622- 103 CFMDB_822 commonName 622- 103A/G CFMDB_986 rnaNtChange A or G at 622- 116 CFMDB_986 commonName 622- 116A/G CFMDB_988 rnaNtChange G or C at 622- 152 CFMDB_988 commonName 622- 152G/C CFMDB_116 rnaNtChange G to A at 622- 1 CFMDB_116 commonName 622- 1G- >A CFMDB_115 rnaNtChange A to C at 622- 2 CFMDB_115 commonName 622- 2A- >C CFMDB_1420 rnaNtChange A to G at 622- 2 CFMDB_1420 commonName 622- 2A- >G CFMDB_117 rnaNtChange deletion of T at 624 CFMDB_117 commonName 624delT CFMDB_122 rnaNtChange deletion of A at 657 CFMDB_122 commonName 657delA CFMDB_888 rnaNtChange deletion of T at 663 CFMDB_888 commonName 663delT CFMDB_823 rnaNtChange deletion of TAGT from 675 CFMDB_823 commonName 675del4 CFMDB_1008 rnaNtChange A or G at 676 CFMDB_1008 commonName 676A/G CFMDB_124 rnaNtChange deletion of C at 681 CFMDB_124 commonName 681delC CFMDB_130 rnaNtChange G to T at 711+ 1 CFMDB_130 commonName 711+ 1G- >T CFMDB_653 rnaNtChange A to G at 711+ 34 CFMDB_653 commonName 711+ 34A- >G CFMDB_131 rnaNtChange A to C at 711+ 3 CFMDB_131 commonName 711+ 3A- >C CFMDB_132 rnaNtChange A to G at 711+ 3 CFMDB_132 commonName 711+ 3A- >G CFMDB_133 rnaNtChange A to T at 711+ 3 CFMDB_133 commonName 711+ 3A- >T CFMDB_134 rnaNtChange G to A at 711+ 5 CFMDB_134 commonName 711+ 5G- >A CFMDB_135 rnaNtChange G to T at 712- 1 CFMDB_135 commonName 712- 1G- >T CFMDB_691 rnaNtChange T or A at 712- 92 CFMDB_691 commonName 712- 92T/A CFMDB_1009 rnaNtChange C or T at 741 CFMDB_1009 commonName 741C/T CFMDB_974 rnaNtChange A or G at 759 CFMDB_974 commonName 759A/G (A209A)) CFMDB_1449 rnaNtChange G to A at 795 CFMDB_1449 commonName 795G/A CFMDB_720 rnaNtChange T or G at - 834 CFMDB_720 commonName - 834T/G CFMDB_147 rnaNtChange deletion of 22 bp from 852 CFMDB_147 commonName 852del22 CFMDB_1010 rnaNtChange C or T at 873 CFMDB_1010 commonName 873C/T CFMDB_1503 rnaNtChange Insertion of 4 bp (TACA) at 874 CFMDB_1503 commonName 874Ins TACA CFMDB_150 rnaNtChange G to A at 875+ 1 CFMDB_150 commonName 875+ 1G- >A CFMDB_151 rnaNtChange G to C at 875+ 1 CFMDB_151 commonName 875+ 1G- >C