UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.14716723_14716725del | CA253426 | ANKH | c.1124_1126del (p.Ser375del) n.366_368del c.1040_1042del (p.Ser347del) | ClinVar dbSNP |
| 5 | g.14716725G>A | CA3208919 | ANKH | c.1122C>T (p.Phe374=) n.364C>T c.1038C>T (p.Phe346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716725G>C | CA359245270 | ANKH | c.1122C>G (p.Phe374Leu) n.364C>G c.1038C>G (p.Phe346Leu) | |
| 5 | g.14716725G= | CA1528880778 | ANKH | c.1122C= (p.Phe374=) n.364C= c.1038C= (p.Phe346=) | |
| 5 | g.14716725G>T | CA359245271 | ANKH | c.1122C>A (p.Phe374Leu) n.364C>A c.1038C>A (p.Phe346Leu) | |
| 5 | g.14716726A>C | CA359245272 | ANKH | c.1121T>G (p.Phe374Cys) n.363T>G c.1037T>G (p.Phe346Cys) | |
| 5 | g.14716726A>G | CA359245273 | ANKH | c.1121T>C (p.Phe374Ser) n.363T>C c.1037T>C (p.Phe346Ser) | |
| 5 | g.14716726A>T | CA359245274 | ANKH | c.1121T>A (p.Phe374Tyr) n.363T>A c.1037T>A (p.Phe346Tyr) | |
| 5 | g.14716727A>C | CA359245275 | ANKH | c.1120T>G (p.Phe374Val) n.362T>G c.1036T>G (p.Phe346Val) | |
| 5 | g.14716727A>G | CA359245276 | ANKH | c.1120T>C (p.Phe374Leu) n.362T>C c.1036T>C (p.Phe346Leu) | |
| 5 | g.14716727A>T | CA359245277 | ANKH | c.1120T>A (p.Phe374Ile) n.362T>A c.1036T>A (p.Phe346Ile) | |
| 5 | g.14716728G>A | CA443295567 | ANKH | c.1119C>T (p.Ile373=) n.361C>T c.1035C>T (p.Ile345=) | |
| 5 | g.14716728G>C | CA359245278 | ANKH | c.1119C>G (p.Ile373Met) n.361C>G c.1035C>G (p.Ile345Met) | |
| 5 | g.14716728G>T | CA443295568 | ANKH | c.1119C>A (p.Ile373=) n.361C>A c.1035C>A (p.Ile345=) | COSMIC |
| 5 | g.14716729A>C | CA359245280 | ANKH | c.1118T>G (p.Ile373Ser) n.360T>G c.1034T>G (p.Ile345Ser) | |
| 5 | g.14716729A>G | CA359245281 | ANKH | c.1118T>C (p.Ile373Thr) n.360T>C c.1034T>C (p.Ile345Thr) | |
| 5 | g.14716729A>T | CA359245279 | ANKH | c.1118T>A (p.Ile373Asn) n.360T>A c.1034T>A (p.Ile345Asn) | COSMIC |
| 5 | g.14716730T>A | CA359245282 | ANKH | c.1117A>T (p.Ile373Phe) n.359A>T c.1033A>T (p.Ile345Phe) | gnomAD v4 |
| 5 | g.14716730T>C | CA359245283 | ANKH | c.1117A>G (p.Ile373Val) n.359A>G c.1033A>G (p.Ile345Val) | |
| 5 | g.14716730T>G | CA359245284 | ANKH | c.1117A>C (p.Ile373Leu) n.359A>C c.1033A>C (p.Ile345Leu) | |
| 5 | g.14716731C>A | CA443295569 | ANKH | c.1116G>T (p.Arg372=) n.358G>T c.1032G>T (p.Arg344=) | gnomAD v3 gnomAD v4 |
| 5 | g.14716731C= | CA1528880779 | ANKH | c.1116G= (p.Arg372=) n.358G= c.1032G= (p.Arg344=) | |
| 5 | g.14716731C>G | CA3208920 | ANKH | c.1116G>C (p.Arg372=) n.358G>C c.1032G>C (p.Arg344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716731C>T | CA443295570 | ANKH | c.1116G>A (p.Arg372=) n.358G>A c.1032G>A (p.Arg344=) | COSMIC |
| 5 | g.14716732C>A | CA359245285 | ANKH | c.1115G>T (p.Arg372Leu) n.357G>T c.1031G>T (p.Arg344Leu) | |
| 5 | g.14716732C= | CA1528880780 | ANKH | c.1115G= (p.Arg372=) n.357G= c.1031G= (p.Arg344=) | |
| 5 | g.14716732C>G | CA359245286 | ANKH | c.1115G>C (p.Arg372Pro) n.357G>C c.1031G>C (p.Arg344Pro) | |
| 5 | g.14716732C>T | CA3208921 | ANKH | c.1115G>A (p.Arg372Gln) n.357G>A c.1031G>A (p.Arg344Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.14716733G>A | CA359245287 | ANKH | c.1114C>T (p.Arg372Trp) n.356C>T c.1030C>T (p.Arg344Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.14716733G>C | CA359245288 | ANKH | c.1114C>G (p.Arg372Gly) n.356C>G c.1030C>G (p.Arg344Gly) | |
| 5 | g.14716733G= | CA1528880781 | ANKH | c.1114C= (p.Arg372=) n.356C= c.1030C= (p.Arg344=) | |
| 5 | g.14716733G>T | CA443295571 | ANKH | c.1114C>A (p.Arg372=) n.356C>A c.1030C>A (p.Arg344=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716734C>A | CA359245289 | ANKH | c.1113G>T (p.Leu371Phe) n.355G>T c.1029G>T (p.Leu343Phe) | |
| 5 | g.14716734C>G | CA359245290 | ANKH | c.1113G>C (p.Leu371Phe) n.355G>C c.1029G>C (p.Leu343Phe) | |
| 5 | g.14716734C>T | CA443295572 | ANKH | c.1113G>A (p.Leu371=) n.355G>A c.1029G>A (p.Leu343=) | |
| 5 | g.14716735A>C | CA359245291 | ANKH | c.1112T>G (p.Leu371Trp) n.354T>G c.1028T>G (p.Leu343Trp) | |
| 5 | g.14716735A>G | CA359245292 | ANKH | c.1112T>C (p.Leu371Ser) n.354T>C c.1028T>C (p.Leu343Ser) | ClinVar |
| 5 | g.14716735A>T | CA359245293 | ANKH | c.1112T>A (p.Leu371Ter) n.354T>A c.1028T>A (p.Leu343Ter) | |
| 5 | g.14716736A>C | CA359245294 | ANKH | c.1111T>G (p.Leu371Val) n.353T>G c.1027T>G (p.Leu343Val) | |
| 5 | g.14716736A>G | CA443295573 | ANKH | c.1111T>C (p.Leu371=) n.353T>C c.1027T>C (p.Leu343=) | |
| 5 | g.14716736A>T | CA359245295 | ANKH | c.1111T>A (p.Leu371Met) n.353T>A c.1027T>A (p.Leu343Met) | |
| 5 | g.14716737A>C | CA443295576 | ANKH | c.1110T>G (p.Pro370=) n.352T>G c.1026T>G (p.Pro342=) | |
| 5 | g.14716737A>G | CA443295575 | ANKH | c.1110T>C (p.Pro370=) n.352T>C c.1026T>C (p.Pro342=) | |
| 5 | g.14716737A>T | CA443295574 | ANKH | c.1110T>A (p.Pro370=) n.352T>A c.1026T>A (p.Pro342=) | |
| 5 | g.14716738G>A | CA359245296 | ANKH | c.1109C>T (p.Pro370Leu) n.351C>T c.1025C>T (p.Pro342Leu) | |
| 5 | g.14716738G>C | CA359245297 | ANKH | c.1109C>G (p.Pro370Arg) n.351C>G c.1025C>G (p.Pro342Arg) | |
| 5 | g.14716738G>T | CA359245298 | ANKH | c.1109C>A (p.Pro370His) n.351C>A c.1025C>A (p.Pro342His) | COSMIC |
| 5 | g.14716739G>A | CA359245299 | ANKH | c.1108C>T (p.Pro370Ser) n.350C>T c.1024C>T (p.Pro342Ser) | COSMIC |
| 5 | g.14716739G>C | CA359245300 | ANKH | c.1108C>G (p.Pro370Ala) n.350C>G c.1024C>G (p.Pro342Ala) | |
| 5 | g.14716739G>T | CA359245301 | ANKH | c.1108C>A (p.Pro370Thr) n.350C>A c.1024C>A (p.Pro342Thr) | |
| 5 | g.14716740A>C | CA443295577 | ANKH | c.1107T>G (p.Val369=) n.349T>G c.1023T>G (p.Val341=) | |
| 5 | g.14716740A>G | CA443295579 | ANKH | c.1107T>C (p.Val369=) n.349T>C c.1023T>C (p.Val341=) | |
| 5 | g.14716740A>T | CA443295578 | ANKH | c.1107T>A (p.Val369=) n.349T>A c.1023T>A (p.Val341=) | |
| 5 | g.14716741A= | CA1528880782 | ANKH | c.1106T= (p.Val369=) n.348T= c.1022T= (p.Val341=) | |
| 5 | g.14716741A>C | CA359245302 | ANKH | c.1106T>G (p.Val369Gly) n.348T>G c.1022T>G (p.Val341Gly) | |
| 5 | g.14716741A>G | CA114720117 | ANKH | c.1106T>C (p.Val369Ala) n.348T>C c.1022T>C (p.Val341Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.14716741A>T | CA359245303 | ANKH | c.1106T>A (p.Val369Asp) n.348T>A c.1022T>A (p.Val341Asp) | |
| 5 | g.14716742C>A | CA359245304 | ANKH | c.1105G>T (p.Val369Phe) n.347G>T c.1021G>T (p.Val341Phe) | |
| 5 | g.14716742C>G | CA359245305 | ANKH | c.1105G>C (p.Val369Leu) n.347G>C c.1021G>C (p.Val341Leu) | |
| 5 | g.14716742C>T | CA359245306 | ANKH | c.1105G>A (p.Val369Ile) n.347G>A c.1021G>A (p.Val341Ile) | |
| 5 | g.14716743A>C | CA443295580 | ANKH | c.1104T>G (p.Val368=) n.346T>G c.1020T>G (p.Val340=) | |
| 5 | g.14716743A>G | CA443295581 | ANKH | c.1104T>C (p.Val368=) n.346T>C c.1020T>C (p.Val340=) | gnomAD v4 |
| 5 | g.14716743A>T | CA443295582 | ANKH | c.1104T>A (p.Val368=) n.346T>A c.1020T>A (p.Val340=) | |
| 5 | g.14716744A= | CA1528880783 | ANKH | c.1103T= (p.Val368=) n.345T= c.1019T= (p.Val340=) | |
| 5 | g.14716744A>C | CA359245307 | ANKH | c.1103T>G (p.Val368Gly) n.345T>G c.1019T>G (p.Val340Gly) | ClinVar dbSNP gnomAD v4 |
| 5 | g.14716744A>G | CA359245309 | ANKH | c.1103T>C (p.Val368Ala) n.345T>C c.1019T>C (p.Val340Ala) | |
| 5 | g.14716744A>T | CA359245308 | ANKH | c.1103T>A (p.Val368Asp) n.345T>A c.1019T>A (p.Val340Asp) | |
| 5 | g.14716747_14716748del | CA2673310462 | ANKH | c.1102_1103del (p.Val368CysfsTer?) n.344_345del c.1018_1019del (p.Val340CysfsTer?) | gnomAD v4 |
| 5 | g.14716745C>A | CA359245310 | ANKH | c.1102G>T (p.Val368Phe) n.344G>T c.1018G>T (p.Val340Phe) | |
| 5 | g.14716745C= | CA1528880784 | ANKH | c.1102G= (p.Val368=) n.344G= c.1018G= (p.Val340=) | |
| 5 | g.14716745C>G | CA359245312 | ANKH | c.1102G>C (p.Val368Leu) n.344G>C c.1018G>C (p.Val340Leu) | |
| 5 | g.14716745C>T | CA359245311 | ANKH | c.1102G>A (p.Val368Ile) n.344G>A c.1018G>A (p.Val340Ile) | dbSNP |
| 5 | g.14716746A>C | CA359245313 | ANKH | c.1101T>G (p.Cys367Trp) n.343T>G c.1017T>G (p.Cys339Trp) | |
| 5 | g.14716746A>G | CA443295583 | ANKH | c.1101T>C (p.Cys367=) n.343T>C c.1017T>C (p.Cys339=) | gnomAD v4 |
| 5 | g.14716746A>T | CA359245314 | ANKH | c.1101T>A (p.Cys367Ter) n.343T>A c.1017T>A (p.Cys339Ter) | |
| 5 | g.14716747C>A | CA359245315 | ANKH | c.1100G>T (p.Cys367Phe) n.342G>T c.1016G>T (p.Cys339Phe) | |
| 5 | g.14716747C>G | CA359245316 | ANKH | c.1100G>C (p.Cys367Ser) n.342G>C c.1016G>C (p.Cys339Ser) | |
| 5 | g.14716747C>T | CA359245317 | ANKH | c.1100G>A (p.Cys367Tyr) n.342G>A c.1016G>A (p.Cys339Tyr) | |
| 5 | g.14716748A>C | CA359245318 | ANKH | c.1099T>G (p.Cys367Gly) n.341T>G c.1015T>G (p.Cys339Gly) | |
| 5 | g.14716748A>G | CA359245319 | ANKH | c.1099T>C (p.Cys367Arg) n.341T>C c.1015T>C (p.Cys339Arg) | |
| 5 | g.14716748A>T | CA359245320 | ANKH | c.1099T>A (p.Cys367Ser) n.341T>A c.1015T>A (p.Cys339Ser) | |
| 5 | g.14716749G>A | CA443295584 | ANKH | c.1098C>T (p.Leu366=) n.340C>T c.1014C>T (p.Leu338=) | |
| 5 | g.14716749G>C | CA443295585 | ANKH | c.1098C>G (p.Leu366=) n.340C>G c.1014C>G (p.Leu338=) | |
| 5 | g.14716749G>T | CA443295586 | ANKH | c.1098C>A (p.Leu366=) n.340C>A c.1014C>A (p.Leu338=) | |
| 5 | g.14716750A>C | CA359245321 | ANKH | c.1097T>G (p.Leu366Arg) n.339T>G c.1013T>G (p.Leu338Arg) | |
| 5 | g.14716750A>G | CA359245322 | ANKH | c.1097T>C (p.Leu366Pro) n.339T>C c.1013T>C (p.Leu338Pro) | |
| 5 | g.14716750A>T | CA359245323 | ANKH | c.1097T>A (p.Leu366His) n.339T>A c.1013T>A (p.Leu338His) | |
| 5 | g.14716751G>A | CA359245324 | ANKH | c.1096C>T (p.Leu366Phe) n.338C>T c.1012C>T (p.Leu338Phe) | |
| 5 | g.14716751G>C | CA359245325 | ANKH | c.1096C>G (p.Leu366Val) n.338C>G c.1012C>G (p.Leu338Val) | |
| 5 | g.14716751G>T | CA359245326 | ANKH | c.1096C>A (p.Leu366Ile) n.338C>A c.1012C>A (p.Leu338Ile) | |
| 5 | g.14716752T>A | CA359245328 | ANKH | c.1095A>T (p.Glu365Asp) n.337A>T c.1011A>T (p.Glu337Asp) | |
| 5 | g.14716752T>C | CA443295587 | ANKH | c.1095A>G (p.Glu365=) n.337A>G c.1011A>G (p.Glu337=) | COSMIC |
| 5 | g.14716752T>G | CA359245327 | ANKH | c.1095A>C (p.Glu365Asp) n.337A>C c.1011A>C (p.Glu337Asp) | |
| 5 | g.14716753T>A | CA359245329 | ANKH | c.1094A>T (p.Glu365Val) n.336A>T c.1010A>T (p.Glu337Val) | |
| 5 | g.14716753T>C | CA359245330 | ANKH | c.1094A>G (p.Glu365Gly) n.336A>G c.1010A>G (p.Glu337Gly) | |
| 5 | g.14716753T>G | CA359245331 | ANKH | c.1094A>C (p.Glu365Ala) n.336A>C c.1010A>C (p.Glu337Ala) | |
| 5 | g.14716754C>A | CA359245332 | ANKH | c.1093G>T (p.Glu365Ter) n.335G>T c.1009G>T (p.Glu337Ter) | |
| 5 | g.14716754C>G | CA359245333 | ANKH | c.1093G>C (p.Glu365Gln) n.335G>C c.1009G>C (p.Glu337Gln) | |
| 5 | g.14716754C>T | CA359245334 | ANKH | c.1093G>A (p.Glu365Lys) n.335G>A c.1009G>A (p.Glu337Lys) | |
| 5 | g.14716755_14716763del | CA2765371440 | ANKH | c.1085_1093del (p.Ala362_Ala364del) n.327_335del c.1001_1009del (p.Ala334_Ala336del) | |
| 5 | g.14716755T>A | CA443295588 | ANKH | c.1092A>T (p.Ala364=) n.334A>T c.1008A>T (p.Ala336=) | |
| 5 | g.14716755T>C | CA443295590 | ANKH | c.1092A>G (p.Ala364=) n.334A>G c.1008A>G (p.Ala336=) | COSMIC |
| 5 | g.14716755T>G | CA443295589 | ANKH | c.1092A>C (p.Ala364=) n.334A>C c.1008A>C (p.Ala336=) | |
| 5 | g.14716756G>A | CA359245335 | ANKH | c.1091C>T (p.Ala364Val) n.333C>T c.1007C>T (p.Ala336Val) | gnomAD v4 |
| 5 | g.14716756G>C | CA3208922 | ANKH | c.1091C>G (p.Ala364Gly) n.333C>G c.1007C>G (p.Ala336Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716756G= | CA1528880785 | ANKH | c.1091C= (p.Ala364=) n.333C= c.1007C= (p.Ala336=) | |
| 5 | g.14716756G>T | CA359245336 | ANKH | c.1091C>A (p.Ala364Glu) n.333C>A c.1007C>A (p.Ala336Glu) | |
| 5 | g.14716757C>A | CA359245337 | ANKH | c.1090G>T (p.Ala364Ser) n.332G>T c.1006G>T (p.Ala336Ser) | dbSNP |
| 5 | g.14716757C= | CA1528880786 | ANKH | c.1090G= (p.Ala364=) n.332G= c.1006G= (p.Ala336=) | |
| 5 | g.14716757C>G | CA359245338 | ANKH | c.1090G>C (p.Ala364Pro) n.332G>C c.1006G>C (p.Ala336Pro) | |
| 5 | g.14716757C>T | CA359245339 | ANKH | c.1090G>A (p.Ala364Thr) n.332G>A c.1006G>A (p.Ala336Thr) | |
| 5 | g.14716758A>C | CA359245341 | ANKH | c.1089T>G (p.Phe363Leu) n.331T>G c.1005T>G (p.Phe335Leu) | |
| 5 | g.14716758A>G | CA443295591 | ANKH | c.1089T>C (p.Phe363=) n.331T>C c.1005T>C (p.Phe335=) | |
| 5 | g.14716758A>T | CA359245340 | ANKH | c.1089T>A (p.Phe363Leu) n.331T>A c.1005T>A (p.Phe335Leu) | |
| 5 | g.14716759A>C | CA359245342 | ANKH | c.1088T>G (p.Phe363Cys) n.330T>G c.1004T>G (p.Phe335Cys) | |
| 5 | g.14716759A>G | CA359245343 | ANKH | c.1088T>C (p.Phe363Ser) n.330T>C c.1004T>C (p.Phe335Ser) | |
| 5 | g.14716759A>T | CA359245344 | ANKH | c.1088T>A (p.Phe363Tyr) n.330T>A c.1004T>A (p.Phe335Tyr) | |
| 5 | g.14716760A>C | CA359245345 | ANKH | c.1087T>G (p.Phe363Val) n.329T>G c.1003T>G (p.Phe335Val) | |
| 5 | g.14716760A>G | CA359245346 | ANKH | c.1087T>C (p.Phe363Leu) n.329T>C c.1003T>C (p.Phe335Leu) | |
| 5 | g.14716760A>T | CA359245347 | ANKH | c.1087T>A (p.Phe363Ile) n.329T>A c.1003T>A (p.Phe335Ile) | |
| 5 | g.14716761G>A | CA3208923 | ANKH | c.1086C>T (p.Ala362=) n.328C>T c.1002C>T (p.Ala334=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716761G>C | CA443295592 | ANKH | c.1086C>G (p.Ala362=) n.328C>G c.1002C>G (p.Ala334=) | gnomAD v4 |
| 5 | g.14716761G= | CA1528880787 | ANKH | c.1086C= (p.Ala362=) n.328C= c.1002C= (p.Ala334=) | |
| 5 | g.14716761G>T | CA443295593 | ANKH | c.1086C>A (p.Ala362=) n.328C>A c.1002C>A (p.Ala334=) | |
| 5 | g.14716762G>A | CA359245348 | ANKH | c.1085C>T (p.Ala362Val) n.327C>T c.1001C>T (p.Ala334Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716762G>C | CA359245349 | ANKH | c.1085C>G (p.Ala362Gly) n.327C>G c.1001C>G (p.Ala334Gly) | |
| 5 | g.14716762G= | CA1528880788 | ANKH | c.1085C= (p.Ala362=) n.327C= c.1001C= (p.Ala334=) | |
| 5 | g.14716762G>T | CA3208924 | ANKH | c.1085C>A (p.Ala362Asp) n.327C>A c.1001C>A (p.Ala334Asp) | dbSNP ExAC gnomAD v2 |
| 5 | g.14716763C>A | CA359245350 | ANKH | c.1084G>T (p.Ala362Ser) n.326G>T c.1000G>T (p.Ala334Ser) | |
| 5 | g.14716763C>G | CA359245351 | ANKH | c.1084G>C (p.Ala362Pro) n.326G>C c.1000G>C (p.Ala334Pro) | |
| 5 | g.14716763C>T | CA359245352 | ANKH | c.1084G>A (p.Ala362Thr) n.326G>A c.1000G>A (p.Ala334Thr) | |
| 5 | g.14716764A= | CA1528880789 | ANKH | c.1083T= (p.Phe361=) n.325T= c.999T= (p.Phe333=) | |
| 5 | g.14716764A>C | CA359245354 | ANKH | c.1083T>G (p.Phe361Leu) n.325T>G c.999T>G (p.Phe333Leu) | ClinVar gnomAD v4 |
| 5 | g.14716764A>G | CA443295594 | ANKH | c.1083T>C (p.Phe361=) n.325T>C c.999T>C (p.Phe333=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.14716764A>T | CA359245353 | ANKH | c.1083T>A (p.Phe361Leu) n.325T>A c.999T>A (p.Phe333Leu) | |
| 5 | g.14716765A>C | CA359245355 | ANKH | c.1082T>G (p.Phe361Cys) n.324T>G c.998T>G (p.Phe333Cys) | |
| 5 | g.14716765A>G | CA359245356 | ANKH | c.1082T>C (p.Phe361Ser) n.324T>C c.998T>C (p.Phe333Ser) | |
| 5 | g.14716765A>T | CA359245357 | ANKH | c.1082T>A (p.Phe361Tyr) n.324T>A c.998T>A (p.Phe333Tyr) | |
| 5 | g.14716766A>C | CA359245358 | ANKH | c.1081T>G (p.Phe361Val) n.323T>G c.997T>G (p.Phe333Val) | |
| 5 | g.14716766A>G | CA359245359 | ANKH | c.1081T>C (p.Phe361Leu) n.323T>C c.997T>C (p.Phe333Leu) | |
| 5 | g.14716766A>T | CA359245360 | ANKH | c.1081T>A (p.Phe361Ile) n.323T>A c.997T>A (p.Phe333Ile) | |
| 5 | g.14716767G>A | CA3208925 | ANKH | c.1080C>T (p.Asp360=) n.322C>T c.996C>T (p.Asp332=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716767G>C | CA359245361 | ANKH | c.1080C>G (p.Asp360Glu) n.322C>G c.996C>G (p.Asp332Glu) | dbSNP gnomAD v4 |
| 5 | g.14716767G= | CA1528880790 | ANKH | c.1080C= (p.Asp360=) n.322C= c.996C= (p.Asp332=) | |
| 5 | g.14716767G>T | CA359245362 | ANKH | c.1080C>A (p.Asp360Glu) n.322C>A c.996C>A (p.Asp332Glu) | |
| 5 | g.14716768T>A | CA359245363 | ANKH | c.1079A>T (p.Asp360Val) n.321A>T c.995A>T (p.Asp332Val) | |
| 5 | g.14716768T>C | CA359245364 | ANKH | c.1079A>G (p.Asp360Gly) n.321A>G c.995A>G (p.Asp332Gly) | |
| 5 | g.14716768T>G | CA359245365 | ANKH | c.1079A>C (p.Asp360Ala) n.321A>C c.995A>C (p.Asp332Ala) | |
| 5 | g.14716769C>A | CA359245368 | ANKH | c.1078G>T (p.Asp360Tyr) n.320G>T c.994G>T (p.Asp332Tyr) | |
| 5 | g.14716769C>G | CA359245367 | ANKH | c.1078G>C (p.Asp360His) n.320G>C c.994G>C (p.Asp332His) | |
| 5 | g.14716769C>T | CA359245366 | ANKH | c.1078G>A (p.Asp360Asn) n.320G>A c.994G>A (p.Asp332Asn) | gnomAD v4 |
| 5 | g.14716770C>A | CA443295595 | ANKH | c.1077G>T (p.Val359=) n.319G>T c.993G>T (p.Val331=) | |
| 5 | g.14716770C>G | CA443295596 | ANKH | c.1077G>C (p.Val359=) n.319G>C c.993G>C (p.Val331=) | |
| 5 | g.14716770C>T | CA443295597 | ANKH | c.1077G>A (p.Val359=) n.319G>A c.993G>A (p.Val331=) | |
| 5 | g.14716771A= | CA1528880791 | ANKH | c.1076T= (p.Val359=) n.318T= c.992T= (p.Val331=) | |
| 5 | g.14716771A>C | CA359245369 | ANKH | c.1076T>G (p.Val359Gly) n.318T>G c.992T>G (p.Val331Gly) | |
| 5 | g.14716771A>G | CA3208926 | ANKH | c.1076T>C (p.Val359Ala) n.318T>C c.992T>C (p.Val331Ala) | dbSNP ExAC gnomAD v2 |
| 5 | g.14716771A>T | CA359245370 | ANKH | c.1076T>A (p.Val359Glu) n.318T>A c.992T>A (p.Val331Glu) | |
| 5 | g.14716772C>A | CA359245371 | ANKH | c.1075G>T (p.Val359Leu) n.317G>T c.991G>T (p.Val331Leu) | |
| 5 | g.14716772C>G | CA359245372 | ANKH | c.1075G>C (p.Val359Leu) n.317G>C c.991G>C (p.Val331Leu) | |
| 5 | g.14716772C>T | CA359245373 | ANKH | c.1075G>A (p.Val359Met) n.317G>A c.991G>A (p.Val331Met) | |
| 5 | g.14716773T>A | CA443295598 | ANKH | c.1074A>T (p.Gly358=) n.316A>T c.990A>T (p.Gly330=) | |
| 5 | g.14716773T>C | CA443295599 | ANKH | c.1074A>G (p.Gly358=) n.316A>G c.990A>G (p.Gly330=) | |
| 5 | g.14716773T>G | CA443295600 | ANKH | c.1074A>C (p.Gly358=) n.316A>C c.990A>C (p.Gly330=) | |
| 5 | g.14716774C>A | CA359245374 | ANKH | c.1073G>T (p.Gly358Val) n.315G>T c.989G>T (p.Gly330Val) | |
| 5 | g.14716774C>G | CA359245375 | ANKH | c.1073G>C (p.Gly358Ala) n.315G>C c.989G>C (p.Gly330Ala) | |
| 5 | g.14716774C>T | CA359245376 | ANKH | c.1073G>A (p.Gly358Glu) n.315G>A c.989G>A (p.Gly330Glu) | |
| 5 | g.14716775C>A | CA359245377 | ANKH | c.1072G>T (p.Gly358Ter) n.314G>T c.988G>T (p.Gly330Ter) | |
| 5 | g.14716775C= | CA1528880792 | ANKH | c.1072G= (p.Gly358=) n.314G= c.988G= (p.Gly330=) | |
| 5 | g.14716775C>G | CA359245378 | ANKH | c.1072G>C (p.Gly358Arg) n.314G>C c.988G>C (p.Gly330Arg) | |
| 5 | g.14716775C>T | CA359245379 | ANKH | c.1072G>A (p.Gly358Arg) n.314G>A c.988G>A (p.Gly330Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.14716775_14716778delinsCGAT | CA1528880793 | ANKH | c.1069_1072delinsATCG (p.Ile357=) n.311_314delinsATCG c.985_988delinsATCG (p.Ile329=) | |
| 5 | g.14716776G>A | CA10620520 | ANKH | c.1071C>T (p.Ile357=) n.313C>T c.987C>T (p.Ile329=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716776G>C | CA359245380 | ANKH | c.1071C>G (p.Ile357Met) n.313C>G c.987C>G (p.Ile329Met) | |
| 5 | g.14716776G= | CA1528880794 | ANKH | c.1071C= (p.Ile357=) n.313C= c.987C= (p.Ile329=) | |
| 5 | g.14716776G>T | CA443295601 | ANKH | c.1071C>A (p.Ile357=) n.313C>A c.987C>A (p.Ile329=) | ClinVar dbSNP |
| 5 | g.14716780_14716782del | CA805272647 | ANKH | c.1069_1071del (p.Ile357del) n.311_313del c.985_987del (p.Ile329del) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.14716777A= | CA1528880795 | ANKH | c.1070T= (p.Ile357=) n.312T= c.986T= (p.Ile329=) | |
| 5 | g.14716777A>C | CA359245382 | ANKH | c.1070T>G (p.Ile357Ser) n.312T>G c.986T>G (p.Ile329Ser) | |
| 5 | g.14716777A>G | CA3208927 | ANKH | c.1070T>C (p.Ile357Thr) n.312T>C c.986T>C (p.Ile329Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716777A>T | CA359245381 | ANKH | c.1070T>A (p.Ile357Asn) n.312T>A c.986T>A (p.Ile329Asn) | gnomAD v4 |
| 5 | g.14716778T>A | CA359245383 | ANKH | c.1069A>T (p.Ile357Phe) n.311A>T c.985A>T (p.Ile329Phe) | |
| 5 | g.14716778T>C | CA359245384 | ANKH | c.1069A>G (p.Ile357Val) n.311A>G c.985A>G (p.Ile329Val) | |
| 5 | g.14716778T>G | CA359245385 | ANKH | c.1069A>C (p.Ile357Leu) n.311A>C c.985A>C (p.Ile329Leu) | |
| 5 | g.14716779G>A | CA443295602 | ANKH | c.1068C>T (p.Ile356=) n.310C>T c.984C>T (p.Ile328=) | |
| 5 | g.14716779G>C | CA359245386 | ANKH | c.1068C>G (p.Ile356Met) n.310C>G c.984C>G (p.Ile328Met) | |
| 5 | g.14716779G= | CA1528880796 | ANKH | c.1068C= (p.Ile356=) n.310C= c.984C= (p.Ile328=) | |
| 5 | g.14716779G>T | CA3208928 | ANKH | c.1068C>A (p.Ile356=) n.310C>A c.984C>A (p.Ile328=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716780A= | CA1528880797 | ANKH | c.1067T= (p.Ile356=) n.309T= c.983T= (p.Ile328=) | |
| 5 | g.14716780A>C | CA359245387 | ANKH | c.1067T>G (p.Ile356Ser) n.309T>G c.983T>G (p.Ile328Ser) | |
| 5 | g.14716780A>G | CA359245388 | ANKH | c.1067T>C (p.Ile356Thr) n.309T>C c.983T>C (p.Ile328Thr) | |
| 5 | g.14716780A>T | CA359245389 | ANKH | c.1067T>A (p.Ile356Asn) n.309T>A c.983T>A (p.Ile328Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716781T>A | CA359245390 | ANKH | c.1066A>T (p.Ile356Phe) n.308A>T c.982A>T (p.Ile328Phe) | |
| 5 | g.14716781T>C | CA359245391 | ANKH | c.1066A>G (p.Ile356Val) n.308A>G c.982A>G (p.Ile328Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716781T>G | CA359245392 | ANKH | c.1066A>C (p.Ile356Leu) n.308A>C c.982A>C (p.Ile328Leu) | |
| 5 | g.14716781T= | CA1528880798 | ANKH | c.1066A= (p.Ile356=) n.308A= c.982A= (p.Ile328=) | |
| 5 | g.14716782G>A | CA443295603 | ANKH | c.1065C>T (p.Asp355=) n.307C>T c.981C>T (p.Asp327=) | |
| 5 | g.14716782G>C | CA359245394 | ANKH | c.1065C>G (p.Asp355Glu) n.307C>G c.981C>G (p.Asp327Glu) | |
| 5 | g.14716782G>T | CA359245393 | ANKH | c.1065C>A (p.Asp355Glu) n.307C>A c.981C>A (p.Asp327Glu) | |
| 5 | g.14716783T>A | CA359245395 | ANKH | c.1064A>T (p.Asp355Val) n.306A>T c.980A>T (p.Asp327Val) | |
| 5 | g.14716783T>C | CA359245396 | ANKH | c.1064A>G (p.Asp355Gly) n.306A>G c.980A>G (p.Asp327Gly) | gnomAD v4 |
| 5 | g.14716783T>G | CA359245397 | ANKH | c.1064A>C (p.Asp355Ala) n.306A>C c.980A>C (p.Asp327Ala) | |
| 5 | g.14716784C>A | CA359245398 | ANKH | c.1063G>T (p.Asp355Tyr) n.305G>T c.979G>T (p.Asp327Tyr) | |
| 5 | g.14716784C= | CA1528880799 | ANKH | c.1063G= (p.Asp355=) n.305G= c.979G= (p.Asp327=) | |
| 5 | g.14716784C>G | CA359245399 | ANKH | c.1063G>C (p.Asp355His) n.305G>C c.979G>C (p.Asp327His) | ClinVar |
| 5 | g.14716784C>T | CA359245400 | ANKH | c.1063G>A (p.Asp355Asn) n.305G>A c.979G>A (p.Asp327Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716785T>A | CA443295604 | ANKH | c.1062A>T (p.Ile354=) n.304A>T c.978A>T (p.Ile326=) | |
| 5 | g.14716785T>C | CA359245401 | ANKH | c.1062A>G (p.Ile354Met) n.304A>G c.978A>G (p.Ile326Met) | gnomAD v4 |
| 5 | g.14716785T>G | CA443295605 | ANKH | c.1062A>C (p.Ile354=) n.304A>C c.978A>C (p.Ile326=) | |
| 5 | g.14716786A= | CA1528880800 | ANKH | c.1061T= (p.Ile354=) n.303T= c.977T= (p.Ile326=) | |
| 5 | g.14716786A>C | CA359245402 | ANKH | c.1061T>G (p.Ile354Arg) n.303T>G c.977T>G (p.Ile326Arg) | |
| 5 | g.14716786A>G | CA3208929 | ANKH | c.1061T>C (p.Ile354Thr) n.303T>C c.977T>C (p.Ile326Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716786A>T | CA359245403 | ANKH | c.1061T>A (p.Ile354Lys) n.303T>A c.977T>A (p.Ile326Lys) | |
| 5 | g.14716787T>A | CA359245404 | ANKH | c.1060A>T (p.Ile354Leu) n.302A>T c.976A>T (p.Ile326Leu) | |
| 5 | g.14716787T>C | CA359245405 | ANKH | c.1060A>G (p.Ile354Val) n.302A>G c.976A>G (p.Ile326Val) | |
| 5 | g.14716787T>G | CA359245406 | ANKH | c.1060A>C (p.Ile354Leu) n.302A>C c.976A>C (p.Ile326Leu) | |
| 5 | g.14716788C>A | CA359245408 | ANKH | c.1059G>T (p.Leu353Phe) n.301G>T c.975G>T (p.Leu325Phe) | |
| 5 | g.14716788C>G | CA359245407 | ANKH | c.1059G>C (p.Leu353Phe) n.301G>C c.975G>C (p.Leu325Phe) | |
| 5 | g.14716788C>T | CA443295606 | ANKH | c.1059G>A (p.Leu353=) n.301G>A c.975G>A (p.Leu325=) | |
| 5 | g.14716789A>C | CA359245409 | ANKH | c.1058T>G (p.Leu353Trp) n.300T>G c.974T>G (p.Leu325Trp) | |
| 5 | g.14716789A>G | CA359245410 | ANKH | c.1058T>C (p.Leu353Ser) n.300T>C c.974T>C (p.Leu325Ser) | |
| 5 | g.14716789A>T | CA359245411 | ANKH | c.1058T>A (p.Leu353Ter) n.300T>A c.974T>A (p.Leu325Ter) | |
| 5 | g.14716790A>C | CA359245412 | ANKH | c.1057T>G (p.Leu353Val) n.299T>G c.973T>G (p.Leu325Val) | |
| 5 | g.14716790A>G | CA443295607 | ANKH | c.1057T>C (p.Leu353=) n.299T>C c.973T>C (p.Leu325=) | dbSNP |
| 5 | g.14716790A>T | CA359245413 | ANKH | c.1057T>A (p.Leu353Met) n.299T>A c.973T>A (p.Leu325Met) | |
| 5 | g.14716791G>A | CA443295608 | ANKH | c.1056C>T (p.Ile352=) n.298C>T c.972C>T (p.Ile324=) | |
| 5 | g.14716791G>C | CA359245414 | ANKH | c.1056C>G (p.Ile352Met) n.298C>G c.972C>G (p.Ile324Met) | |
| 5 | g.14716791G>T | CA443295609 | ANKH | c.1056C>A (p.Ile352=) n.298C>A c.972C>A (p.Ile324=) | |
| 5 | g.14716792A>C | CA359245415 | ANKH | c.1055T>G (p.Ile352Ser) n.297T>G c.971T>G (p.Ile324Ser) | |
| 5 | g.14716792A>G | CA359245416 | ANKH | c.1055T>C (p.Ile352Thr) n.297T>C c.971T>C (p.Ile324Thr) | |
| 5 | g.14716792A>T | CA359245417 | ANKH | c.1055T>A (p.Ile352Asn) n.297T>A c.971T>A (p.Ile324Asn) | |
| 5 | g.14716793T>A | CA359245418 | ANKH | c.1054A>T (p.Ile352Phe) n.296A>T c.970A>T (p.Ile324Phe) | |
| 5 | g.14716793T>C | CA359245419 | ANKH | c.1054A>G (p.Ile352Val) n.296A>G c.970A>G (p.Ile324Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716793T>G | CA359245420 | ANKH | c.1054A>C (p.Ile352Leu) n.296A>C c.970A>C (p.Ile324Leu) | |
| 5 | g.14716793T= | CA1528880801 | ANKH | c.1054A= (p.Ile352=) n.296A= c.970A= (p.Ile324=) | |
| 5 | g.14716794T>A | CA359245421 | ANKH | c.1053A>T (p.Lys351Asn) n.295A>T c.969A>T (p.Lys323Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716794T>C | CA443295610 | ANKH | c.1053A>G (p.Lys351=) n.295A>G c.969A>G (p.Lys323=) | |
| 5 | g.14716794T>G | CA359245422 | ANKH | c.1053A>C (p.Lys351Asn) n.295A>C c.969A>C (p.Lys323Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716794T= | CA1528880802 | ANKH | c.1053A= (p.Lys351=) n.295A= c.969A= (p.Lys323=) | |
| 5 | g.14716795T>A | CA359245423 | ANKH | c.1052A>T (p.Lys351Ile) n.294A>T c.968A>T (p.Lys323Ile) | |
| 5 | g.14716795T>C | CA359245424 | ANKH | c.1052A>G (p.Lys351Arg) n.294A>G c.968A>G (p.Lys323Arg) | |
| 5 | g.14716795T>G | CA3208930 | ANKH | c.1052A>C (p.Lys351Thr) n.294A>C c.968A>C (p.Lys323Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716795T= | CA1528880803 | ANKH | c.1052A= (p.Lys351=) n.294A= c.968A= (p.Lys323=) | |
| 5 | g.14716796T>A | CA359245426 | ANKH | c.1051A>T (p.Lys351Ter) n.293A>T c.967A>T (p.Lys323Ter) | |
| 5 | g.14716796T>C | CA359245425 | ANKH | c.1051A>G (p.Lys351Glu) n.293A>G c.967A>G (p.Lys323Glu) | |
| 5 | g.14716796T>G | CA359245427 | ANKH | c.1051A>C (p.Lys351Gln) n.293A>C c.967A>C (p.Lys323Gln) | |
| 5 | g.14716797C>A | CA359245428 | ANKH | c.1050G>T (p.Glu350Asp) n.292G>T c.966G>T (p.Glu322Asp) | |
| 5 | g.14716797C>G | CA359245429 | ANKH | c.1050G>C (p.Glu350Asp) n.292G>C c.966G>C (p.Glu322Asp) | |
| 5 | g.14716797C>T | CA443295611 | ANKH | c.1050G>A (p.Glu350=) n.292G>A c.966G>A (p.Glu322=) | |
| 5 | g.14716798T>A | CA359245430 | ANKH | c.1049A>T (p.Glu350Val) n.291A>T c.965A>T (p.Glu322Val) | |
| 5 | g.14716798T>C | CA359245431 | ANKH | c.1049A>G (p.Glu350Gly) n.291A>G c.965A>G (p.Glu322Gly) | |
| 5 | g.14716798T>G | CA359245432 | ANKH | c.1049A>C (p.Glu350Ala) n.291A>C c.965A>C (p.Glu322Ala) | |
| 5 | g.14716799C>A | CA359245433 | ANKH | c.1048G>T (p.Glu350Ter) n.290G>T c.964G>T (p.Glu322Ter) | |
| 5 | g.14716799C= | CA1528880804 | ANKH | c.1048G= (p.Glu350=) n.290G= c.964G= (p.Glu322=) | |
| 5 | g.14716799C>G | CA359245434 | ANKH | c.1048G>C (p.Glu350Gln) n.290G>C c.964G>C (p.Glu322Gln) | |
| 5 | g.14716799C>T | CA359245435 | ANKH | c.1048G>A (p.Glu350Lys) n.290G>A c.964G>A (p.Glu322Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.14716800A>C | CA443295612 | ANKH | c.1047T>G (p.Ser349=) n.289T>G c.963T>G (p.Ser321=) | |
| 5 | g.14716800A>G | CA443295614 | ANKH | c.1047T>C (p.Ser349=) n.289T>C c.963T>C (p.Ser321=) | gnomAD v4 |
| 5 | g.14716800A>T | CA443295613 | ANKH | c.1047T>A (p.Ser349=) n.289T>A c.963T>A (p.Ser321=) | |
| 5 | g.14716801G>A | CA359245436 | ANKH | c.1046C>T (p.Ser349Phe) n.288C>T c.962C>T (p.Ser321Phe) | |
| 5 | g.14716801G>C | CA359245438 | ANKH | c.1046C>G (p.Ser349Cys) n.288C>G c.962C>G (p.Ser321Cys) | |
| 5 | g.14716801G>T | CA359245437 | ANKH | c.1046C>A (p.Ser349Tyr) n.288C>A c.962C>A (p.Ser321Tyr) | |
| 5 | g.14716802A>C | CA359245439 | ANKH | c.1045T>G (p.Ser349Ala) n.287T>G c.961T>G (p.Ser321Ala) | |
| 5 | g.14716802A>G | CA359245440 | ANKH | c.1045T>C (p.Ser349Pro) n.287T>C c.961T>C (p.Ser321Pro) | gnomAD v4 |
| 5 | g.14716802A>T | CA359245441 | ANKH | c.1045T>A (p.Ser349Thr) n.287T>A c.961T>A (p.Ser321Thr) | |
| 5 | g.14716803C>A | CA443295615 | ANKH | c.1044G>T (p.Val348=) n.286G>T c.960G>T (p.Val320=) | gnomAD v4 |
| 5 | g.14716803C= | CA1528880805 | ANKH | c.1044G= (p.Val348=) n.286G= c.960G= (p.Val320=) | |
| 5 | g.14716803C>G | CA3208931 | ANKH | c.1044G>C (p.Val348=) n.286G>C c.960G>C (p.Val320=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716803C>T | CA443295616 | ANKH | c.1044G>A (p.Val348=) n.286G>A c.960G>A (p.Val320=) | |
| 5 | g.14716804A>C | CA359245442 | ANKH | c.1043T>G (p.Val348Gly) n.285T>G c.959T>G (p.Val320Gly) | |
| 5 | g.14716804A>G | CA359245444 | ANKH | c.1043T>C (p.Val348Ala) n.285T>C c.959T>C (p.Val320Ala) | gnomAD v4 |
| 5 | g.14716804A>T | CA359245443 | ANKH | c.1043T>A (p.Val348Glu) n.285T>A c.959T>A (p.Val320Glu) | |
| 5 | g.14716805C>A | CA359245445 | ANKH | c.1042G>T (p.Val348Leu) n.284G>T c.958G>T (p.Val320Leu) | |
| 5 | g.14716805C= | CA1528880806 | ANKH | c.1042G= (p.Val348=) n.284G= c.958G= (p.Val320=) | |
| 5 | g.14716805C>G | CA359245446 | ANKH | c.1042G>C (p.Val348Leu) n.284G>C c.958G>C (p.Val320Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.14716805C>T | CA3208932 | ANKH | c.1042G>A (p.Val348Met) n.284G>A c.958G>A (p.Val320Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.14716806G>A | CA114720209 | ANKH | c.1041C>T (p.Asn347=) n.283C>T c.957C>T (p.Asn319=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716806G>C | CA359245447 | ANKH | c.1041C>G (p.Asn347Lys) n.283C>G c.957C>G (p.Asn319Lys) | |
| 5 | g.14716806G= | CA1528880807 | ANKH | c.1041C= (p.Asn347=) n.283C= c.957C= (p.Asn319=) | |
| 5 | g.14716806G>T | CA359245448 | ANKH | c.1041C>A (p.Asn347Lys) n.283C>A c.957C>A (p.Asn319Lys) | gnomAD v4 |
| 5 | g.14716807_14716809del | CA2673310463 | ANKH | c.1039_1041del (p.Asn347del) n.281_283del c.955_957del (p.Asn319del) | gnomAD v4 |
| 5 | g.14716807T>A | CA359245449 | ANKH | c.1040A>T (p.Asn347Ile) n.282A>T c.956A>T (p.Asn319Ile) | |
| 5 | g.14716807T>C | CA3208933 | ANKH | c.1040A>G (p.Asn347Ser) n.282A>G c.956A>G (p.Asn319Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716807T>G | CA359245450 | ANKH | c.1040A>C (p.Asn347Thr) n.282A>C c.956A>C (p.Asn319Thr) | |
| 5 | g.14716807T= | CA1528880808 | ANKH | c.1040A= (p.Asn347=) n.282A= c.956A= (p.Asn319=) | |
| 5 | g.14716808T>A | CA359245451 | ANKH | c.1039A>T (p.Asn347Tyr) n.281A>T c.955A>T (p.Asn319Tyr) | |
| 5 | g.14716808T>C | CA3208934 | ANKH | c.1039A>G (p.Asn347Asp) n.281A>G c.955A>G (p.Asn319Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.14716808T>G | CA359245452 | ANKH | c.1039A>C (p.Asn347His) n.281A>C c.955A>C (p.Asn319His) | gnomAD v4 |
| 5 | g.14716808T= | CA1528880809 | ANKH | c.1039A= (p.Asn347=) n.281A= c.955A= (p.Asn319=) | |
| 5 | g.14716809G>A | CA443295617 | ANKH | c.1038C>T (p.Pro346=) n.280C>T c.954C>T (p.Pro318=) | |
| 5 | g.14716809G>C | CA443295619 | ANKH | c.1038C>G (p.Pro346=) n.280C>G c.954C>G (p.Pro318=) | |
| 5 | g.14716809G>T | CA443295618 | ANKH | c.1038C>A (p.Pro346=) n.280C>A c.954C>A (p.Pro318=) | |
| 5 | g.14716811del | CA2673310464 | ANKH | c.1038del (p.Asn347ThrfsTer7) n.280del c.954del (p.Asn319ThrfsTer7) | gnomAD v4 |
| 5 | g.14716810G>A | CA359245453 | ANKH | c.1037C>T (p.Pro346Leu) n.279C>T c.953C>T (p.Pro318Leu) | gnomAD v4 |
| 5 | g.14716810G>C | CA359245455 | ANKH | c.1037C>G (p.Pro346Arg) n.279C>G c.953C>G (p.Pro318Arg) | |
| 5 | g.14716810G>T | CA359245454 | ANKH | c.1037C>A (p.Pro346His) n.279C>A c.953C>A (p.Pro318His) | |
| 5 | g.14716811G>A | CA359245456 | ANKH | c.1036C>T (p.Pro346Ser) n.278C>T c.952C>T (p.Pro318Ser) | gnomAD v4 |
| 5 | g.14716811G>C | CA359245457 | ANKH | c.1036C>G (p.Pro346Ala) n.278C>G c.952C>G (p.Pro318Ala) | |
| 5 | g.14716811G>T | CA359245458 | ANKH | c.1036C>A (p.Pro346Thr) n.278C>A c.952C>A (p.Pro318Thr) | gnomAD v4 |
| 5 | g.14716812T>A | CA443295620 | ANKH | c.1035A>T (p.Thr345=) n.277A>T c.951A>T (p.Thr317=) | |
| 5 | g.14716812T>C | CA443295621 | ANKH | c.1035A>G (p.Thr345=) n.277A>G c.951A>G (p.Thr317=) | |
| 5 | g.14716812T>G | CA443295622 | ANKH | c.1035A>C (p.Thr345=) n.277A>C c.951A>C (p.Thr317=) | |
| 5 | g.14716813G>A | CA359245459 | ANKH | c.1034C>T (p.Thr345Ile) n.276C>T c.950C>T (p.Thr317Ile) | gnomAD v4 |
| 5 | g.14716813G>C | CA359245460 | ANKH | c.1034C>G (p.Thr345Arg) n.276C>G c.950C>G (p.Thr317Arg) | |
| 5 | g.14716813G>T | CA359245461 | ANKH | c.1034C>A (p.Thr345Lys) n.276C>A c.950C>A (p.Thr317Lys) | gnomAD v4 |
| 5 | g.14716814T>A | CA359245462 | ANKH | c.1033A>T (p.Thr345Ser) n.275A>T c.949A>T (p.Thr317Ser) | |
| 5 | g.14716814T>C | CA359245463 | ANKH | c.1033A>G (p.Thr345Ala) n.275A>G c.949A>G (p.Thr317Ala) | gnomAD v4 |
| 5 | g.14716814T>G | CA359245464 | ANKH | c.1033A>C (p.Thr345Pro) n.275A>C c.949A>C (p.Thr317Pro) | |
| 5 | g.14716815C>A | CA359245465 | ANKH | c.1032G>T (p.Trp344Cys) n.274G>T c.948G>T (p.Trp316Cys) | |
| 5 | g.14716815C>G | CA359245466 | ANKH | c.1032G>C (p.Trp344Cys) n.274G>C c.948G>C (p.Trp316Cys) | |
| 5 | g.14716815C>T | CA359245467 | ANKH | c.1032G>A (p.Trp344Ter) n.274G>A c.948G>A (p.Trp316Ter) | |
| 5 | g.14716816C>A | CA359245469 | ANKH | c.1031G>T (p.Trp344Leu) n.273G>T c.947G>T (p.Trp316Leu) | |
| 5 | g.14716816C= | CA1528880810 | ANKH | c.1031G= (p.Trp344=) n.273G= c.947G= (p.Trp316=) | |
| 5 | g.14716816C>G | CA359245468 | ANKH | c.1031G>C (p.Trp344Ser) n.273G>C c.947G>C (p.Trp316Ser) | |
| 5 | g.14716816C>T | CA3208935 | ANKH | c.1031G>A (p.Trp344Ter) n.273G>A c.947G>A (p.Trp316Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.14716817A>C | CA359245470 | ANKH | c.1030T>G (p.Trp344Gly) n.272T>G c.946T>G (p.Trp316Gly) | |
| 5 | g.14716817A>G | CA359245471 | ANKH | c.1030T>C (p.Trp344Arg) n.272T>C c.946T>C (p.Trp316Arg) | |
| 5 | g.14716817A>T | CA359245472 | ANKH | c.1030T>A (p.Trp344Arg) n.272T>A c.946T>A (p.Trp316Arg) | |
| 5 | g.14716818A>C | CA359245473 | ANKH | c.1029T>G (p.Phe343Leu) n.271T>G c.945T>G (p.Phe315Leu) | |
| 5 | g.14716818A>G | CA443295623 | ANKH | c.1029T>C (p.Phe343=) n.271T>C c.945T>C (p.Phe315=) | gnomAD v4 |
| 5 | g.14716818A>T | CA359245474 | ANKH | c.1029T>A (p.Phe343Leu) n.271T>A c.945T>A (p.Phe315Leu) | |
| 5 | g.14716819A>C | CA359245475 | ANKH | c.1028T>G (p.Phe343Cys) n.270T>G c.944T>G (p.Phe315Cys) | |
| 5 | g.14716819A>G | CA359245476 | ANKH | c.1028T>C (p.Phe343Ser) n.270T>C c.944T>C (p.Phe315Ser) | |
| 5 | g.14716819A>T | CA359245477 | ANKH | c.1028T>A (p.Phe343Tyr) n.270T>A c.944T>A (p.Phe315Tyr) | |
| 5 | g.14716820A>C | CA359245478 | ANKH | c.1027T>G (p.Phe343Val) n.269T>G c.943T>G (p.Phe315Val) | |
| 5 | g.14716820A>G | CA359245479 | ANKH | c.1027T>C (p.Phe343Leu) n.269T>C c.943T>C (p.Phe315Leu) | |
| 5 | g.14716820A>T | CA359245480 | ANKH | c.1027T>A (p.Phe343Ile) n.269T>A c.943T>A (p.Phe315Ile) | |
| 5 | g.14716821C>A | CA359245482 | ANKH | c.1026G>T (p.Met342Ile) n.268G>T c.942G>T (p.Met314Ile) | |
| 5 | g.14716821C>G | CA359245483 | ANKH | c.1026G>C (p.Met342Ile) n.268G>C c.942G>C (p.Met314Ile) | |
| 5 | g.14716821C>T | CA359245481 | ANKH | c.1026G>A (p.Met342Ile) n.268G>A c.942G>A (p.Met314Ile) | |
| 5 | g.14716822A>C | CA359245486 | ANKH | c.1025T>G (p.Met342Arg) n.267T>G c.941T>G (p.Met314Arg) | |
| 5 | g.14716822A>G | CA359245484 | ANKH | c.1025T>C (p.Met342Thr) n.267T>C c.941T>C (p.Met314Thr) | ClinVar gnomAD v4 |
| 5 | g.14716822A>T | CA359245485 | ANKH | c.1025T>A (p.Met342Lys) n.267T>A c.941T>A (p.Met314Lys) | |
| 5 | g.14716823T>A | CA359245487 | ANKH | c.1024A>T (p.Met342Leu) n.266A>T c.940A>T (p.Met314Leu) | |
| 5 | g.14716823T>C | CA359245488 | ANKH | c.1024A>G (p.Met342Val) n.266A>G c.940A>G (p.Met314Val) | |
| 5 | g.14716823T>G | CA359245489 | ANKH | c.1024A>C (p.Met342Leu) n.266A>C c.940A>C (p.Met314Leu) | |
| 5 | g.14716824C>A | CA443295624 | ANKH | c.1023G>T (p.Val341=) n.265G>T c.939G>T (p.Val313=) | dbSNP |
| 5 | g.14716824C= | CA1528880811 | ANKH | c.1023G= (p.Val341=) n.265G= c.939G= (p.Val313=) | |
| 5 | g.14716824C>G | CA443295626 | ANKH | c.1023G>C (p.Val341=) n.265G>C c.939G>C (p.Val313=) | |
| 5 | g.14716824C>T | CA443295625 | ANKH | c.1023G>A (p.Val341=) n.265G>A c.939G>A (p.Val313=) | |
| 5 | g.14716825A>C | CA359245490 | ANKH | c.1022T>G (p.Val341Gly) n.264T>G c.938T>G (p.Val313Gly) | |
| 5 | g.14716825A>G | CA359245491 | ANKH | c.1022T>C (p.Val341Ala) n.264T>C c.938T>C (p.Val313Ala) | |
| 5 | g.14716825A>T | CA359245492 | ANKH | c.1022T>A (p.Val341Glu) n.264T>A c.938T>A (p.Val313Glu) |