Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99622791G>ACA440333236MTTPc.2628G>A (p.Glu876=)
c.2379G>A (p.Glu793=)
c.2709G>A (p.Glu903=)
c.*1075G>A (n.*1075G>A)
4g.99622791G>CCA357520578MTTPc.2628G>C (p.Glu876Asp)
c.2379G>C (p.Glu793Asp)
c.2709G>C (p.Glu903Asp)
c.*1075G>C (n.*1075G>C)
4g.99622791G>TCA357520576MTTPc.2628G>T (p.Glu876Asp)
c.2379G>T (p.Glu793Asp)
c.2709G>T (p.Glu903Asp)
c.*1075G>T (n.*1075G>T)
4g.99622792A=CA1480087985MTTPc.2629A= (p.Met877=)
c.2380A= (p.Met794=)
c.2710A= (p.Met904=)
c.*1076A= (n.*1076A=)
4g.99622792A>CCA357520582MTTPc.2629A>C (p.Met877Leu)
c.2380A>C (p.Met794Leu)
c.2710A>C (p.Met904Leu)
c.*1076A>C (n.*1076A>C)
4g.99622792A>GCA357520584MTTPc.2629A>G (p.Met877Val)
c.2380A>G (p.Met794Val)
c.2710A>G (p.Met904Val)
c.*1076A>G (n.*1076A>G)
 ClinVar dbSNP
4g.99622792A>TCA357520586MTTPc.2629A>T (p.Met877Leu)
c.2380A>T (p.Met794Leu)
c.2710A>T (p.Met904Leu)
c.*1076A>T (n.*1076A>T)
4g.99622793T>ACA357520588MTTPc.2630T>A (p.Met877Lys)
c.2381T>A (p.Met794Lys)
c.2711T>A (p.Met904Lys)
c.*1077T>A (n.*1077T>A)
 gnomAD v4
4g.99622793T>CCA357520591MTTPc.2630T>C (p.Met877Thr)
c.2381T>C (p.Met794Thr)
c.2711T>C (p.Met904Thr)
c.*1077T>C (n.*1077T>C)
4g.99622793T>GCA357520594MTTPc.2630T>G (p.Met877Arg)
c.2381T>G (p.Met794Arg)
c.2711T>G (p.Met904Arg)
c.*1077T>G (n.*1077T>G)
4g.99622794G>ACA3022418MTTPc.2631G>A (p.Met877Ile)
c.2382G>A (p.Met794Ile)
c.2712G>A (p.Met904Ile)
c.*1078G>A (n.*1078G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622794G>CCA357520597MTTPc.2631G>C (p.Met877Ile)
c.2382G>C (p.Met794Ile)
c.2712G>C (p.Met904Ile)
c.*1078G>C (n.*1078G>C)
4g.99622794G=CA1480087986MTTPc.2631G= (p.Met877=)
c.2382G= (p.Met794=)
c.2712G= (p.Met904=)
c.*1078G= (n.*1078G=)
4g.99622794G>TCA357520599MTTPc.2631G>T (p.Met877Ile)
c.2382G>T (p.Met794Ile)
c.2712G>T (p.Met904Ile)
c.*1078G>T (n.*1078G>T)
4g.99622795T>ACA357520600MTTPc.2632T>A (p.Cys878Ser)
c.2383T>A (p.Cys795Ser)
c.2713T>A (p.Cys905Ser)
c.*1079T>A (n.*1079T>A)
4g.99622795T>CCA357520602MTTPc.2632T>C (p.Cys878Arg)
c.2383T>C (p.Cys795Arg)
c.2713T>C (p.Cys905Arg)
c.*1079T>C (n.*1079T>C)
4g.99622795T>GCA357520605MTTPc.2632T>G (p.Cys878Gly)
c.2383T>G (p.Cys795Gly)
c.2713T>G (p.Cys905Gly)
c.*1079T>G (n.*1079T>G)
 gnomAD v4
4g.99622796G>ACA357520614MTTPc.2633G>A (p.Cys878Tyr)
c.2384G>A (p.Cys795Tyr)
c.2714G>A (p.Cys905Tyr)
c.*1080G>A (n.*1080G>A)
 COSMIC
4g.99622796G>CCA357520611MTTPc.2633G>C (p.Cys878Ser)
c.2384G>C (p.Cys795Ser)
c.2714G>C (p.Cys905Ser)
c.*1080G>C (n.*1080G>C)
4g.99622796G>TCA357520609MTTPc.2633G>T (p.Cys878Phe)
c.2384G>T (p.Cys795Phe)
c.2714G>T (p.Cys905Phe)
c.*1080G>T (n.*1080G>T)
4g.99622797C>ACA357520617MTTPc.2634C>A (p.Cys878Ter)
c.2385C>A (p.Cys795Ter)
c.2715C>A (p.Cys905Ter)
c.*1081C>A (n.*1081C>A)
4g.99622797C=CA1480087987MTTPc.2634C= (p.Cys878=)
c.2385C= (p.Cys795=)
c.2715C= (p.Cys905=)
c.*1081C= (n.*1081C=)
4g.99622797C>GCA357520619MTTPc.2634C>G (p.Cys878Trp)
c.2385C>G (p.Cys795Trp)
c.2715C>G (p.Cys905Trp)
c.*1081C>G (n.*1081C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99622797C>TCA440333252MTTPc.2634C>T (p.Cys878=)
c.2385C>T (p.Cys795=)
c.2715C>T (p.Cys905=)
c.*1081C>T (n.*1081C>T)
 dbSNP
4g.99622798A=CA1480087988MTTPc.2635A= (p.Lys879=)
c.2386A= (p.Lys796=)
c.2716A= (p.Lys906=)
c.*1082A= (n.*1082A=)
4g.99622798A>CCA357520623MTTPc.2635A>C (p.Lys879Gln)
c.2386A>C (p.Lys796Gln)
c.2716A>C (p.Lys906Gln)
c.*1082A>C (n.*1082A>C)
 gnomAD v4
4g.99622798A>GCA357520625MTTPc.2635A>G (p.Lys879Glu)
c.2386A>G (p.Lys796Glu)
c.2716A>G (p.Lys906Glu)
c.*1082A>G (n.*1082A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.99622798A>TCA357520628MTTPc.2635A>T (p.Lys879Ter)
c.2386A>T (p.Lys796Ter)
c.2716A>T (p.Lys906Ter)
c.*1082A>T (n.*1082A>T)
4g.99622799A=CA1480087989MTTPc.2636A= (p.Lys879=)
c.2387A= (p.Lys796=)
c.2717A= (p.Lys906=)
c.*1083A= (n.*1083A=)
4g.99622799A>CCA357520632MTTPc.2636A>C (p.Lys879Thr)
c.2387A>C (p.Lys796Thr)
c.2717A>C (p.Lys906Thr)
c.*1083A>C (n.*1083A>C)
4g.99622799A>GCA3022419MTTPc.2636A>G (p.Lys879Arg)
c.2387A>G (p.Lys796Arg)
c.2717A>G (p.Lys906Arg)
c.*1083A>G (n.*1083A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622799A>TCA357520637MTTPc.2636A>T (p.Lys879Ile)
c.2387A>T (p.Lys796Ile)
c.2717A>T (p.Lys906Ile)
c.*1083A>T (n.*1083A>T)
4g.99622800A>CCA357520639MTTPc.2637A>C (p.Lys879Asn)
c.2388A>C (p.Lys796Asn)
c.2718A>C (p.Lys906Asn)
c.*1084A>C (n.*1084A>C)
4g.99622800A>GCA440333260MTTPc.2637A>G (p.Lys879=)
c.2388A>G (p.Lys796=)
c.2718A>G (p.Lys906=)
c.*1084A>G (n.*1084A>G)
4g.99622800A>TCA357520641MTTPc.2637A>T (p.Lys879Asn)
c.2388A>T (p.Lys796Asn)
c.2718A>T (p.Lys906Asn)
c.*1084A>T (n.*1084A>T)
4g.99622801G>ACA357520645MTTPc.2638G>A (p.Val880Met)
c.2389G>A (p.Val797Met)
c.2719G>A (p.Val907Met)
c.*1085G>A (n.*1085G>A)
 gnomAD v4
4g.99622801G>CCA357520647MTTPc.2638G>C (p.Val880Leu)
c.2389G>C (p.Val797Leu)
c.2719G>C (p.Val907Leu)
c.*1085G>C (n.*1085G>C)
4g.99622801G>TCA357520648MTTPc.2638G>T (p.Val880Leu)
c.2389G>T (p.Val797Leu)
c.2719G>T (p.Val907Leu)
c.*1085G>T (n.*1085G>T)
4g.99622802T>ACA357520653MTTPc.2639T>A (p.Val880Glu)
c.2390T>A (p.Val797Glu)
c.2720T>A (p.Val907Glu)
c.*1086T>A (n.*1086T>A)
4g.99622802T>CCA3022420MTTPc.2639T>C (p.Val880Ala)
c.2390T>C (p.Val797Ala)
c.2720T>C (p.Val907Ala)
c.*1086T>C (n.*1086T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622802T>GCA357520651MTTPc.2639T>G (p.Val880Gly)
c.2390T>G (p.Val797Gly)
c.2720T>G (p.Val907Gly)
c.*1086T>G (n.*1086T>G)
4g.99622802T=CA1480087990MTTPc.2639T= (p.Val880=)
c.2390T= (p.Val797=)
c.2720T= (p.Val907=)
c.*1086T= (n.*1086T=)
4g.99622803G>ACA440333269MTTPc.2640G>A (p.Val880=)
c.2391G>A (p.Val797=)
c.2721G>A (p.Val907=)
c.*1087G>A (n.*1087G>A)
4g.99622803G>CCA440333270MTTPc.2640G>C (p.Val880=)
c.2391G>C (p.Val797=)
c.2721G>C (p.Val907=)
c.*1087G>C (n.*1087G>C)
 dbSNP gnomAD v4
4g.99622803G=CA1480087991MTTPc.2640G= (p.Val880=)
c.2391G= (p.Val797=)
c.2721G= (p.Val907=)
c.*1087G= (n.*1087G=)
4g.99622803G>TCA440333271MTTPc.2640G>T (p.Val880=)
c.2391G>T (p.Val797=)
c.2721G>T (p.Val907=)
c.*1087G>T (n.*1087G>T)
 gnomAD v4
4g.99622804G>ACA357520655MTTPc.2641G>A (p.Val881Met)
c.2392G>A (p.Val798Met)
c.2722G>A (p.Val908Met)
c.*1088G>A (n.*1088G>A)
 dbSNP
4g.99622804G>CCA357520657MTTPc.2641G>C (p.Val881Leu)
c.2392G>C (p.Val798Leu)
c.2722G>C (p.Val908Leu)
c.*1088G>C (n.*1088G>C)
4g.99622804G=CA1480087992MTTPc.2641G= (p.Val881=)
c.2392G= (p.Val798=)
c.2722G= (p.Val908=)
c.*1088G= (n.*1088G=)
4g.99622804G>TCA357520658MTTPc.2641G>T (p.Val881Leu)
c.2392G>T (p.Val798Leu)
c.2722G>T (p.Val908Leu)
c.*1088G>T (n.*1088G>T)
4g.99622805T>ACA357520661MTTPc.2642T>A (p.Val881Glu)
c.2393T>A (p.Val798Glu)
c.2723T>A (p.Val908Glu)
c.*1089T>A (n.*1089T>A)
4g.99622805T>CCA357520664MTTPc.2642T>C (p.Val881Ala)
c.2393T>C (p.Val798Ala)
c.2723T>C (p.Val908Ala)
c.*1089T>C (n.*1089T>C)
4g.99622805T>GCA357520666MTTPc.2642T>G (p.Val881Gly)
c.2393T>G (p.Val798Gly)
c.2723T>G (p.Val908Gly)
c.*1089T>G (n.*1089T>G)
4g.99622806G>ACA440333278MTTPc.2643G>A (p.Val881=)
c.2394G>A (p.Val798=)
c.2724G>A (p.Val908=)
c.*1090G>A (n.*1090G>A)
4g.99622806G>CCA440333280MTTPc.2643G>C (p.Val881=)
c.2394G>C (p.Val798=)
c.2724G>C (p.Val908=)
c.*1090G>C (n.*1090G>C)
4g.99622806G>TCA440333282MTTPc.2643G>T (p.Val881=)
c.2394G>T (p.Val798=)
c.2724G>T (p.Val908=)
c.*1090G>T (n.*1090G>T)
4g.99622807T>ACA357520668MTTPc.2644T>A (p.Phe882Ile)
c.2395T>A (p.Phe799Ile)
c.2725T>A (p.Phe909Ile)
c.*1091T>A (n.*1091T>A)
4g.99622807T>CCA357520672MTTPc.2644T>C (p.Phe882Leu)
c.2395T>C (p.Phe799Leu)
c.2725T>C (p.Phe909Leu)
c.*1091T>C (n.*1091T>C)
4g.99622807T>GCA357520676MTTPc.2644T>G (p.Phe882Val)
c.2395T>G (p.Phe799Val)
c.2725T>G (p.Phe909Val)
c.*1091T>G (n.*1091T>G)
4g.99622808T>ACA357520679MTTPc.2645T>A (p.Phe882Tyr)
c.2396T>A (p.Phe799Tyr)
c.2726T>A (p.Phe909Tyr)
c.*1092T>A (n.*1092T>A)
4g.99622808T>CCA357520681MTTPc.2645T>C (p.Phe882Ser)
c.2396T>C (p.Phe799Ser)
c.2726T>C (p.Phe909Ser)
c.*1092T>C (n.*1092T>C)
4g.99622808T>GCA357520683MTTPc.2645T>G (p.Phe882Cys)
c.2396T>G (p.Phe799Cys)
c.2726T>G (p.Phe909Cys)
c.*1092T>G (n.*1092T>G)
4g.99622809T>ACA357520685MTTPc.2646T>A (p.Phe882Leu)
c.2397T>A (p.Phe799Leu)
c.2727T>A (p.Phe909Leu)
c.*1093T>A (n.*1093T>A)
4g.99622809T>CCA440333291MTTPc.2646T>C (p.Phe882=)
c.2397T>C (p.Phe799=)
c.2727T>C (p.Phe909=)
c.*1093T>C (n.*1093T>C)
4g.99622809T>GCA357520687MTTPc.2646T>G (p.Phe882Leu)
c.2397T>G (p.Phe799Leu)
c.2727T>G (p.Phe909Leu)
c.*1093T>G (n.*1093T>G)
4g.99622810G>ACA357520691MTTPc.2647G>A (p.Ala883Thr)
c.2398G>A (p.Ala800Thr)
c.2728G>A (p.Ala910Thr)
c.*1094G>A (n.*1094G>A)
 gnomAD v4
4g.99622810G>CCA357520697MTTPc.2647G>C (p.Ala883Pro)
c.2398G>C (p.Ala800Pro)
c.2728G>C (p.Ala910Pro)
c.*1094G>C (n.*1094G>C)
4g.99622810G>TCA357520694MTTPc.2647G>T (p.Ala883Ser)
c.2398G>T (p.Ala800Ser)
c.2728G>T (p.Ala910Ser)
c.*1094G>T (n.*1094G>T)
 gnomAD v4
4g.99622811C>ACA357520698MTTPc.2648C>A (p.Ala883Asp)
c.2399C>A (p.Ala800Asp)
c.2729C>A (p.Ala910Asp)
c.*1095C>A (n.*1095C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99622811C=CA1480087993MTTPc.2648C= (p.Ala883=)
c.2399C= (p.Ala800=)
c.2729C= (p.Ala910=)
c.*1095C= (n.*1095C=)
4g.99622811C>GCA357520703MTTPc.2648C>G (p.Ala883Gly)
c.2399C>G (p.Ala800Gly)
c.2729C>G (p.Ala910Gly)
c.*1095C>G (n.*1095C>G)
4g.99622811C>TCA357520701MTTPc.2648C>T (p.Ala883Val)
c.2399C>T (p.Ala800Val)
c.2729C>T (p.Ala910Val)
c.*1095C>T (n.*1095C>T)
 ClinVar
4g.99622812C>ACA440333300MTTPc.2649C>A (p.Ala883=)
c.2400C>A (p.Ala800=)
c.2730C>A (p.Ala910=)
c.*1096C>A (n.*1096C>A)
4g.99622812C>GCA440333301MTTPc.2649C>G (p.Ala883=)
c.2400C>G (p.Ala800=)
c.2730C>G (p.Ala910=)
c.*1096C>G (n.*1096C>G)
4g.99622812C>TCA440333303MTTPc.2649C>T (p.Ala883=)
c.2400C>T (p.Ala800=)
c.2730C>T (p.Ala910=)
c.*1096C>T (n.*1096C>T)
4g.99622813C>ACA357520706MTTPc.2650C>A (p.Pro884Thr)
c.2401C>A (p.Pro801Thr)
c.2731C>A (p.Pro911Thr)
c.*1097C>A (n.*1097C>A)
4g.99622813C=CA1480087994MTTPc.2650C= (p.Pro884=)
c.2401C= (p.Pro801=)
c.2731C= (p.Pro911=)
c.*1097C= (n.*1097C=)
4g.99622813C>GCA357520710MTTPc.2650C>G (p.Pro884Ala)
c.2401C>G (p.Pro801Ala)
c.2731C>G (p.Pro911Ala)
c.*1097C>G (n.*1097C>G)
4g.99622813C>TCA357520708MTTPc.2650C>T (p.Pro884Ser)
c.2401C>T (p.Pro801Ser)
c.2731C>T (p.Pro911Ser)
c.*1097C>T (n.*1097C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99622814C>ACA357520713MTTPc.2651C>A (p.Pro884His)
c.2402C>A (p.Pro801His)
c.2732C>A (p.Pro911His)
c.*1098C>A (n.*1098C>A)
4g.99622814C>GCA357520717MTTPc.2651C>G (p.Pro884Arg)
c.2402C>G (p.Pro801Arg)
c.2732C>G (p.Pro911Arg)
c.*1098C>G (n.*1098C>G)
4g.99622814C>TCA357520715MTTPc.2651C>T (p.Pro884Leu)
c.2402C>T (p.Pro801Leu)
c.2732C>T (p.Pro911Leu)
c.*1098C>T (n.*1098C>T)
 gnomAD v4
4g.99622815delCA2671535543MTTPc.2652del (p.Gln885SerfsTer15)
c.2403del (p.Gln802SerfsTer15)
c.2733del (p.Gln912SerfsTer15)
c.*1099del (n.*1099del)
 gnomAD v4
4g.99622815T>ACA440333311MTTPc.2652T>A (p.Pro884=)
c.2403T>A (p.Pro801=)
c.2733T>A (p.Pro911=)
c.*1099T>A (n.*1099T>A)
4g.99622815T>CCA3022421MTTPc.2652T>C (p.Pro884=)
c.2403T>C (p.Pro801=)
c.2733T>C (p.Pro911=)
c.*1099T>C (n.*1099T>C)
 dbSNP ExAC
4g.99622815T>GCA440333313MTTPc.2652T>G (p.Pro884=)
c.2403T>G (p.Pro801=)
c.2733T>G (p.Pro911=)
c.*1099T>G (n.*1099T>G)
4g.99622815T=CA1480087995MTTPc.2652T= (p.Pro884=)
c.2403T= (p.Pro801=)
c.2733T= (p.Pro911=)
c.*1099T= (n.*1099T=)
4g.99622816C>ACA357520725MTTPc.2653C>A (p.Gln885Lys)
c.2404C>A (p.Gln802Lys)
c.2734C>A (p.Gln912Lys)
c.*1100C>A (n.*1100C>A)
4g.99622816C=CA1480087996MTTPc.2653C= (p.Gln885=)
c.2404C= (p.Gln802=)
c.2734C= (p.Gln912=)
c.*1100C= (n.*1100C=)
4g.99622816C>GCA357520727MTTPc.2653C>G (p.Gln885Glu)
c.2404C>G (p.Gln802Glu)
c.2734C>G (p.Gln912Glu)
c.*1100C>G (n.*1100C>G)
4g.99622816C>TCA357520730MTTPc.2653C>T (p.Gln885Ter)
c.2404C>T (p.Gln802Ter)
c.2734C>T (p.Gln912Ter)
c.*1100C>T (n.*1100C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99622817A>CCA357520734MTTPc.2654A>C (p.Gln885Pro)
c.2405A>C (p.Gln802Pro)
c.2735A>C (p.Gln912Pro)
c.*1101A>C (n.*1101A>C)
4g.99622817A>GCA357520737MTTPc.2654A>G (p.Gln885Arg)
c.2405A>G (p.Gln802Arg)
c.2735A>G (p.Gln912Arg)
c.*1101A>G (n.*1101A>G)
4g.99622817A>TCA357520739MTTPc.2654A>T (p.Gln885Leu)
c.2405A>T (p.Gln802Leu)
c.2735A>T (p.Gln912Leu)
c.*1101A>T (n.*1101A>T)
4g.99622818G>ACA440333321MTTPc.2655G>A (p.Gln885=)
c.2406G>A (p.Gln802=)
c.2736G>A (p.Gln912=)
c.*1102G>A (n.*1102G>A)
4g.99622818G>CCA357520741MTTPc.2655G>C (p.Gln885His)
c.2406G>C (p.Gln802His)
c.2736G>C (p.Gln912His)
c.*1102G>C (n.*1102G>C)
4g.99622818G>TCA357520743MTTPc.2655G>T (p.Gln885His)
c.2406G>T (p.Gln802His)
c.2736G>T (p.Gln912His)
c.*1102G>T (n.*1102G>T)
4g.99622819C>ACA357520746MTTPc.2656C>A (p.Pro886Thr)
c.2407C>A (p.Pro803Thr)
c.2737C>A (p.Pro913Thr)
c.*1103C>A (n.*1103C>A)
4g.99622819C=CA1480087997MTTPc.2656C= (p.Pro886=)
c.2407C= (p.Pro803=)
c.2737C= (p.Pro913=)
c.*1103C= (n.*1103C=)
4g.99622819C>GCA357520748MTTPc.2656C>G (p.Pro886Ala)
c.2407C>G (p.Pro803Ala)
c.2737C>G (p.Pro913Ala)
c.*1103C>G (n.*1103C>G)
4g.99622819C>TCA357520750MTTPc.2656C>T (p.Pro886Ser)
c.2407C>T (p.Pro803Ser)
c.2737C>T (p.Pro913Ser)
c.*1103C>T (n.*1103C>T)
 dbSNP
4g.99622820C>ACA357520752MTTPc.2657C>A (p.Pro886Gln)
c.2408C>A (p.Pro803Gln)
c.2738C>A (p.Pro913Gln)
c.*1104C>A (n.*1104C>A)
4g.99622820C=CA1480087998MTTPc.2657C= (p.Pro886=)
c.2408C= (p.Pro803=)
c.2738C= (p.Pro913=)
c.*1104C= (n.*1104C=)
4g.99622820C>GCA357520756MTTPc.2657C>G (p.Pro886Arg)
c.2408C>G (p.Pro803Arg)
c.2738C>G (p.Pro913Arg)
c.*1104C>G (n.*1104C>G)
4g.99622820C>TCA3022422MTTPc.2657C>T (p.Pro886Leu)
c.2408C>T (p.Pro803Leu)
c.2738C>T (p.Pro913Leu)
c.*1104C>T (n.*1104C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622821G>ACA3022423MTTPc.2658G>A (p.Pro886=)
c.2409G>A (p.Pro803=)
c.2739G>A (p.Pro913=)
c.*1105G>A (n.*1105G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622821G>CCA440333330MTTPc.2658G>C (p.Pro886=)
c.2409G>C (p.Pro803=)
c.2739G>C (p.Pro913=)
c.*1105G>C (n.*1105G>C)
4g.99622821G=CA1480087999MTTPc.2658G= (p.Pro886=)
c.2409G= (p.Pro803=)
c.2739G= (p.Pro913=)
c.*1105G= (n.*1105G=)
4g.99622821G>TCA440333332MTTPc.2658G>T (p.Pro886=)
c.2409G>T (p.Pro803=)
c.2739G>T (p.Pro913=)
c.*1105G>T (n.*1105G>T)
4g.99622822G>ACA357520759MTTPc.2659G>A (p.Asp887Asn)
c.2410G>A (p.Asp804Asn)
c.2740G>A (p.Asp914Asn)
c.*1106G>A (n.*1106G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.99622822G>CCA357520762MTTPc.2659G>C (p.Asp887His)
c.2410G>C (p.Asp804His)
c.2740G>C (p.Asp914His)
c.*1106G>C (n.*1106G>C)
4g.99622822G=CA1480088000MTTPc.2659G= (p.Asp887=)
c.2410G= (p.Asp804=)
c.2740G= (p.Asp914=)
c.*1106G= (n.*1106G=)
4g.99622822G>TCA357520763MTTPc.2659G>T (p.Asp887Tyr)
c.2410G>T (p.Asp804Tyr)
c.2740G>T (p.Asp914Tyr)
c.*1106G>T (n.*1106G>T)
4g.99622823A>CCA357520766MTTPc.2660A>C (p.Asp887Ala)
c.2411A>C (p.Asp804Ala)
c.2741A>C (p.Asp914Ala)
c.*1107A>C (n.*1107A>C)
4g.99622823A>GCA357520768MTTPc.2660A>G (p.Asp887Gly)
c.2411A>G (p.Asp804Gly)
c.2741A>G (p.Asp914Gly)
c.*1107A>G (n.*1107A>G)
 gnomAD v4
4g.99622823A>TCA357520771MTTPc.2660A>T (p.Asp887Val)
c.2411A>T (p.Asp804Val)
c.2741A>T (p.Asp914Val)
c.*1107A>T (n.*1107A>T)
4g.99622824_99622825delCA645520135MTTPc.2661_2662del (p.Asp887GlufsTer?)
c.2412_2413del (p.Asp804GlufsTer?)
c.2742_2743del (p.Asp914GlufsTer?)
c.*1108_*1109del (n.*1108_*1109del)
 COSMIC COSMIC
4g.99622824T>ACA3022425MTTPc.2661T>A (p.Asp887Glu)
c.2412T>A (p.Asp804Glu)
c.2742T>A (p.Asp914Glu)
c.*1108T>A (n.*1108T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622824T>CCA440333340MTTPc.2661T>C (p.Asp887=)
c.2412T>C (p.Asp804=)
c.2742T>C (p.Asp914=)
c.*1108T>C (n.*1108T>C)
 ClinVar gnomAD v4
4g.99622824T>GCA3022424MTTPc.2661T>G (p.Asp887Glu)
c.2412T>G (p.Asp804Glu)
c.2742T>G (p.Asp914Glu)
c.*1108T>G (n.*1108T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622824T=CA1480088001MTTPc.2661T= (p.Asp887=)
c.2412T= (p.Asp804=)
c.2742T= (p.Asp914=)
c.*1108T= (n.*1108T=)
4g.99622825A=CA1480088002MTTPc.2662A= (p.Ser888=)
c.2413A= (p.Ser805=)
c.2743A= (p.Ser915=)
c.*1109A= (n.*1109A=)
4g.99622825A>CCA357520782MTTPc.2662A>C (p.Ser888Arg)
c.2413A>C (p.Ser805Arg)
c.2743A>C (p.Ser915Arg)
c.*1109A>C (n.*1109A>C)
4g.99622825A>GCA357520780MTTPc.2662A>G (p.Ser888Gly)
c.2413A>G (p.Ser805Gly)
c.2743A>G (p.Ser915Gly)
c.*1109A>G (n.*1109A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99622825A>TCA357520777MTTPc.2662A>T (p.Ser888Cys)
c.2413A>T (p.Ser805Cys)
c.2743A>T (p.Ser915Cys)
c.*1109A>T (n.*1109A>T)
4g.99622826G>ACA357520785MTTPc.2663G>A (p.Ser888Asn)
c.2414G>A (p.Ser805Asn)
c.2744G>A (p.Ser915Asn)
c.*1110G>A (n.*1110G>A)
 ClinVar gnomAD v4
4g.99622826G>CCA357520786MTTPc.2663G>C (p.Ser888Thr)
c.2414G>C (p.Ser805Thr)
c.2744G>C (p.Ser915Thr)
c.*1110G>C (n.*1110G>C)
4g.99622826G>TCA357520788MTTPc.2663G>T (p.Ser888Ile)
c.2414G>T (p.Ser805Ile)
c.2744G>T (p.Ser915Ile)
c.*1110G>T (n.*1110G>T)
4g.99622827T>ACA357520790MTTPc.2664T>A (p.Ser888Arg)
c.2415T>A (p.Ser805Arg)
c.2745T>A (p.Ser915Arg)
c.*1111T>A (n.*1111T>A)
4g.99622827T>CCA440333349MTTPc.2664T>C (p.Ser888=)
c.2415T>C (p.Ser805=)
c.2745T>C (p.Ser915=)
c.*1111T>C (n.*1111T>C)
4g.99622827T>GCA357520792MTTPc.2664T>G (p.Ser888Arg)
c.2415T>G (p.Ser805Arg)
c.2745T>G (p.Ser915Arg)
c.*1111T>G (n.*1111T>G)
4g.99622828A>CCA357520794MTTPc.2665A>C (p.Thr889Pro)
c.2416A>C (p.Thr806Pro)
c.2746A>C (p.Thr916Pro)
c.*1112A>C (n.*1112A>C)
4g.99622828A>GCA357520796MTTPc.2665A>G (p.Thr889Ala)
c.2416A>G (p.Thr806Ala)
c.2746A>G (p.Thr916Ala)
c.*1112A>G (n.*1112A>G)
 gnomAD v4
4g.99622828A>TCA357520798MTTPc.2665A>T (p.Thr889Ser)
c.2416A>T (p.Thr806Ser)
c.2746A>T (p.Thr916Ser)
c.*1112A>T (n.*1112A>T)
4g.99622829C>ACA357520801MTTPc.2666C>A (p.Thr889Asn)
c.2417C>A (p.Thr806Asn)
c.2747C>A (p.Thr916Asn)
c.*1113C>A (n.*1113C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99622829C=CA1480088003MTTPc.2666C= (p.Thr889=)
c.2417C= (p.Thr806=)
c.2747C= (p.Thr916=)
c.*1113C= (n.*1113C=)
4g.99622829C>GCA357520804MTTPc.2666C>G (p.Thr889Ser)
c.2417C>G (p.Thr806Ser)
c.2747C>G (p.Thr916Ser)
c.*1113C>G (n.*1113C>G)
4g.99622829C>TCA357520805MTTPc.2666C>T (p.Thr889Ile)
c.2417C>T (p.Thr806Ile)
c.2747C>T (p.Thr916Ile)
c.*1113C>T (n.*1113C>T)
4g.99622830T>ACA440333358MTTPc.2667T>A (p.Thr889=)
c.2418T>A (p.Thr806=)
c.2748T>A (p.Thr916=)
c.*1114T>A (n.*1114T>A)
4g.99622830T>CCA440333360MTTPc.2667T>C (p.Thr889=)
c.2418T>C (p.Thr806=)
c.2748T>C (p.Thr916=)
c.*1114T>C (n.*1114T>C)
4g.99622830T>GCA440333362MTTPc.2667T>G (p.Thr889=)
c.2418T>G (p.Thr806=)
c.2748T>G (p.Thr916=)
c.*1114T>G (n.*1114T>G)
 ClinVar dbSNP
4g.99622831T>ACA357520808MTTPc.2668T>A (p.Ser890Thr)
c.2419T>A (p.Ser807Thr)
c.2749T>A (p.Ser917Thr)
c.*1115T>A (n.*1115T>A)
4g.99622831T>CCA357520807MTTPc.2668T>C (p.Ser890Pro)
c.2419T>C (p.Ser807Pro)
c.2749T>C (p.Ser917Pro)
c.*1115T>C (n.*1115T>C)
 ClinVar dbSNP COSMIC
4g.99622831T>GCA357520806MTTPc.2668T>G (p.Ser890Ala)
c.2419T>G (p.Ser807Ala)
c.2749T>G (p.Ser917Ala)
c.*1115T>G (n.*1115T>G)
4g.99622831T=CA1480088004MTTPc.2668T= (p.Ser890=)
c.2419T= (p.Ser807=)
c.2749T= (p.Ser917=)
c.*1115T= (n.*1115T=)
4g.99622832C>ACA357520810MTTPc.2669C>A (p.Ser890Tyr)
c.2420C>A (p.Ser807Tyr)
c.2750C>A (p.Ser917Tyr)
c.*1116C>A (n.*1116C>A)
4g.99622832C=CA1480088005MTTPc.2669C= (p.Ser890=)
c.2420C= (p.Ser807=)
c.2750C= (p.Ser917=)
c.*1116C= (n.*1116C=)
4g.99622832C>GCA357520812MTTPc.2669C>G (p.Ser890Cys)
c.2420C>G (p.Ser807Cys)
c.2750C>G (p.Ser917Cys)
c.*1116C>G (n.*1116C>G)
 gnomAD v4
4g.99622832C>TCA3022426MTTPc.2669C>T (p.Ser890Phe)
c.2420C>T (p.Ser807Phe)
c.2750C>T (p.Ser917Phe)
c.*1116C>T (n.*1116C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622833C>ACA440333369MTTPc.2670C>A (p.Ser890=)
c.2421C>A (p.Ser807=)
c.2751C>A (p.Ser917=)
c.*1117C>A (n.*1117C>A)
4g.99622833C>GCA440333371MTTPc.2670C>G (p.Ser890=)
c.2421C>G (p.Ser807=)
c.2751C>G (p.Ser917=)
c.*1117C>G (n.*1117C>G)
 gnomAD v4
4g.99622833C>TCA440333373MTTPc.2670C>T (p.Ser890=)
c.2421C>T (p.Ser807=)
c.2751C>T (p.Ser917=)
c.*1117C>T (n.*1117C>T)
 gnomAD v4
4g.99622834A>CCA357520818MTTPc.2671A>C (p.Ser891Arg)
c.2422A>C (p.Ser808Arg)
c.2752A>C (p.Ser918Arg)
c.*1118A>C (n.*1118A>C)
4g.99622834A>GCA357520820MTTPc.2671A>G (p.Ser891Gly)
c.2422A>G (p.Ser808Gly)
c.2752A>G (p.Ser918Gly)
c.*1118A>G (n.*1118A>G)
4g.99622834A>TCA357520823MTTPc.2671A>T (p.Ser891Cys)
c.2422A>T (p.Ser808Cys)
c.2752A>T (p.Ser918Cys)
c.*1118A>T (n.*1118A>T)
4g.99622835G>ACA357520830MTTPc.2672G>A (p.Ser891Asn)
c.2423G>A (p.Ser808Asn)
c.2753G>A (p.Ser918Asn)
c.*1119G>A (n.*1119G>A)
4g.99622835G>CCA357520832MTTPc.2672G>C (p.Ser891Thr)
c.2423G>C (p.Ser808Thr)
c.2753G>C (p.Ser918Thr)
c.*1119G>C (n.*1119G>C)
 gnomAD v4
4g.99622835G>TCA357520835MTTPc.2672G>T (p.Ser891Ile)
c.2423G>T (p.Ser808Ile)
c.2753G>T (p.Ser918Ile)
c.*1119G>T (n.*1119G>T)
4g.99622836C>ACA357520838MTTPc.2673C>A (p.Ser891Arg)
c.2424C>A (p.Ser808Arg)
c.2754C>A (p.Ser918Arg)
c.*1120C>A (n.*1120C>A)
4g.99622836C=CA1480088006MTTPc.2673C= (p.Ser891=)
c.2424C= (p.Ser808=)
c.2754C= (p.Ser918=)
c.*1120C= (n.*1120C=)
4g.99622836C>GCA357520841MTTPc.2673C>G (p.Ser891Arg)
c.2424C>G (p.Ser808Arg)
c.2754C>G (p.Ser918Arg)
c.*1120C>G (n.*1120C>G)
4g.99622836C>TCA3022427MTTPc.2673C>T (p.Ser891=)
c.2424C>T (p.Ser808=)
c.2754C>T (p.Ser918=)
c.*1120C>T (n.*1120C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622837G>ACA102652458MTTPc.2674G>A (p.Gly892Arg)
c.2425G>A (p.Gly809Arg)
c.2755G>A (p.Gly919Arg)
c.*1121G>A (n.*1121G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99622837G>CCA357520848MTTPc.2674G>C (p.Gly892Arg)
c.2425G>C (p.Gly809Arg)
c.2755G>C (p.Gly919Arg)
c.*1121G>C (n.*1121G>C)
4g.99622837G=CA1480088007MTTPc.2674G= (p.Gly892=)
c.2425G= (p.Gly809=)
c.2755G= (p.Gly919=)
c.*1121G= (n.*1121G=)
4g.99622837G>TCA357520846MTTPc.2674G>T (p.Gly892Ter)
c.2425G>T (p.Gly809Ter)
c.2755G>T (p.Gly919Ter)
c.*1121G>T (n.*1121G>T)
4g.99622838G>ACA357520857MTTPc.2675G>A (p.Gly892Glu)
c.2426G>A (p.Gly809Glu)
c.2756G>A (p.Gly919Glu)
c.*1122G>A (n.*1122G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.99622838G>CCA357520851MTTPc.2675G>C (p.Gly892Ala)
c.2426G>C (p.Gly809Ala)
c.2756G>C (p.Gly919Ala)
c.*1122G>C (n.*1122G>C)
4g.99622838G=CA1480088008MTTPc.2675G= (p.Gly892=)
c.2426G= (p.Gly809=)
c.2756G= (p.Gly919=)
c.*1122G= (n.*1122G=)
4g.99622838G>TCA357520854MTTPc.2675G>T (p.Gly892Val)
c.2426G>T (p.Gly809Val)
c.2756G>T (p.Gly919Val)
c.*1122G>T (n.*1122G>T)
4g.99622839A>CCA440333386MTTPc.2676A>C (p.Gly892=)
c.2427A>C (p.Gly809=)
c.2757A>C (p.Gly919=)
c.*1123A>C (n.*1123A>C)
4g.99622839A>GCA440333387MTTPc.2676A>G (p.Gly892=)
c.2427A>G (p.Gly809=)
c.2757A>G (p.Gly919=)
c.*1123A>G (n.*1123A>G)
4g.99622839A>TCA440333389MTTPc.2676A>T (p.Gly892=)
c.2427A>T (p.Gly809=)
c.2757A>T (p.Gly919=)
c.*1123A>T (n.*1123A>T)
4g.99622840T>ACA357520859MTTPc.2677T>A (p.Trp893Arg)
c.2428T>A (p.Trp810Arg)
c.2758T>A (p.Trp920Arg)
c.*1124T>A (n.*1124T>A)
 gnomAD v4
4g.99622840T>CCA357520860MTTPc.2677T>C (p.Trp893Arg)
c.2428T>C (p.Trp810Arg)
c.2758T>C (p.Trp920Arg)
c.*1124T>C (n.*1124T>C)
4g.99622840T>GCA357520863MTTPc.2677T>G (p.Trp893Gly)
c.2428T>G (p.Trp810Gly)
c.2758T>G (p.Trp920Gly)
c.*1124T>G (n.*1124T>G)
4g.99622841G>ACA3022428MTTPc.2678G>A (p.Trp893Ter)
c.2429G>A (p.Trp810Ter)
c.2759G>A (p.Trp920Ter)
c.*1125G>A (n.*1125G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622841G>CCA357520867MTTPc.2678G>C (p.Trp893Ser)
c.2429G>C (p.Trp810Ser)
c.2759G>C (p.Trp920Ser)
c.*1125G>C (n.*1125G>C)
4g.99622841G=CA1480088009MTTPc.2678G= (p.Trp893=)
c.2429G= (p.Trp810=)
c.2759G= (p.Trp920=)
c.*1125G= (n.*1125G=)
4g.99622841G>TCA357520869MTTPc.2678G>T (p.Trp893Leu)
c.2429G>T (p.Trp810Leu)
c.2759G>T (p.Trp920Leu)
c.*1125G>T (n.*1125G>T)
4g.99622842G>ACA357520872MTTPc.2679G>A (p.Trp893Ter)
c.2430G>A (p.Trp810Ter)
c.2760G>A (p.Trp920Ter)
c.*1126G>A (n.*1126G>A)
4g.99622842G>CCA357520874MTTPc.2679G>C (p.Trp893Cys)
c.2430G>C (p.Trp810Cys)
c.2760G>C (p.Trp920Cys)
c.*1126G>C (n.*1126G>C)
4g.99622842G>TCA357520876MTTPc.2679G>T (p.Trp893Cys)
c.2430G>T (p.Trp810Cys)
c.2760G>T (p.Trp920Cys)
c.*1126G>T (n.*1126G>T)
4g.99622843T>ACA357520883MTTPc.2680T>A (p.Phe894Ile)
c.2431T>A (p.Phe811Ile)
c.2761T>A (p.Phe921Ile)
c.*1127T>A (n.*1127T>A)
4g.99622843T>CCA357520881MTTPc.2680T>C (p.Phe894Leu)
c.2431T>C (p.Phe811Leu)
c.2761T>C (p.Phe921Leu)
c.*1127T>C (n.*1127T>C)
4g.99622843T>GCA357520878MTTPc.2680T>G (p.Phe894Val)
c.2431T>G (p.Phe811Val)
c.2761T>G (p.Phe921Val)
c.*1127T>G (n.*1127T>G)
4g.99622844T>ACA357520887MTTPc.2681T>A (p.Phe894Tyr)
c.2432T>A (p.Phe811Tyr)
c.2762T>A (p.Phe921Tyr)
c.*1128T>A (n.*1128T>A)
4g.99622844T>CCA357520889MTTPc.2681T>C (p.Phe894Ser)
c.2432T>C (p.Phe811Ser)
c.2762T>C (p.Phe921Ser)
c.*1128T>C (n.*1128T>C)
4g.99622844T>GCA357520891MTTPc.2681T>G (p.Phe894Cys)
c.2432T>G (p.Phe811Cys)
c.2762T>G (p.Phe921Cys)
c.*1128T>G (n.*1128T>G)
4g.99622845T>ACA357520895MTTPc.2682T>A (p.Phe894Leu)
c.2433T>A (p.Phe811Leu)
c.2763T>A (p.Phe921Leu)
c.*1129T>A (n.*1129T>A)
4g.99622845T>CCA440333401MTTPc.2682T>C (p.Phe894=)
c.2433T>C (p.Phe811=)
c.2763T>C (p.Phe921=)
c.*1129T>C (n.*1129T>C)
4g.99622845T>GCA357520897MTTPc.2682T>G (p.Phe894Leu)
c.2433T>G (p.Phe811Leu)
c.2763T>G (p.Phe921Leu)
c.*1129T>G (n.*1129T>G)
4g.99622845_99622846insCCCCA3022429MTTPc.2682_2683insCCC (p.Phe894_Ter895insPro)
c.2433_2434insCCC (p.Phe811_Ter812insPro)
c.2763_2764insCCC (p.Phe921_Ter922insPro)
c.*1129_*1130insCCC (n.*1129_*1130insCCC)
 ExAC gnomAD v4
4g.99622846T>ACA357520903MTTPc.2683T>A (p.Ter895Arg)
c.2434T>A (p.Ter812Arg)
c.2764T>A (p.Ter922Arg)
c.*1130T>A (n.*1130T>A)
4g.99622846T>CCA357520905MTTPc.2683T>C (p.Ter895Arg)
c.2434T>C (p.Ter812Arg)
c.2764T>C (p.Ter922Arg)
c.*1130T>C (n.*1130T>C)
4g.99622846T>GCA357520907MTTPc.2683T>G (p.Ter895Gly)
c.2434T>G (p.Ter812Gly)
c.2764T>G (p.Ter922Gly)
c.*1130T>G (n.*1130T>G)
4g.99622846_99622847insAATCACA3022430MTTPc.2683_2684insAATCA (p.Ter895=)
c.2434_2435insAATCA (p.Ter812=)
c.2764_2765insAATCA (p.Ter922=)
c.*1130_*1131insAATCA (n.*1130_*1131insAATCA)
 ExAC gnomAD v4
4g.99622847G>ACA440333409MTTPc.2684G>A (p.Ter895=)
c.2435G>A (p.Ter812=)
c.2765G>A (p.Ter922=)
c.*1131G>A (n.*1131G>A)
4g.99622847G>CCA357520913MTTPc.2684G>C (p.Ter895Ser)
c.2435G>C (p.Ter812Ser)
c.2765G>C (p.Ter922Ser)
c.*1131G>C (n.*1131G>C)
4g.99622847G>TCA357520915MTTPc.2684G>T (p.Ter895Leu)
c.2435G>T (p.Ter812Leu)
c.2765G>T (p.Ter922Leu)
c.*1131G>T (n.*1131G>T)
4g.99622847_99622848insGAAACA3022431MTTPc.2684_2685insGAAA (p.Ter895TrpextTer?)
c.2435_2436insGAAA (p.Ter812TrpextTer?)
c.2765_2766insGAAA (p.Ter922TrpextTer?)
c.*1131_*1132insGAAA (n.*1131_*1132insGAAA)
 ExAC
4g.99622847_99622848insGAAAAAAAAAAAAAACA2671535544MTTPc.2684_2685insGAAAAAAAAAAAAAA (p.Ter895delinsTrpLysLysLysLysLys)
c.2435_2436insGAAAAAAAAAAAAAA (p.Ter812delinsTrpLysLysLysLysLys)
c.2765_2766insGAAAAAAAAAAAAAA (p.Ter922delinsTrpLysLysLysLysLys)
c.*1131_*1132insGAAAAAAAAAAAAAA (n.*1131_*1132insGAAAAAAAAAAAAAA)
 gnomAD v4
4g.99622848A>CCA357520925MTTPc.2685A>C (p.Ter895Cys)
c.2436A>C (p.Ter812Cys)
c.2766A>C (p.Ter922Cys)
c.*1132A>C (n.*1132A>C)
 ClinVar
4g.99622848A>GCA357520922MTTPc.2685A>G (p.Ter895Trp)
c.2436A>G (p.Ter812Trp)
c.2766A>G (p.Ter922Trp)
c.*1132A>G (n.*1132A>G)
4g.99622848A>TCA357520920MTTPc.2685A>T (p.Ter895Cys)
c.2436A>T (p.Ter812Cys)
c.2766A>T (p.Ter922Cys)
c.*1132A>T (n.*1132A>T)
4g.99622849A>CCA2671535545MTTPc.*1A>C (n.*1A>C)
c.*1133A>C (n.*1133A>C)
 gnomAD v4
4g.99622852T>CCA800730482MTTPc.*4T>C (n.*4T>C)
c.*1136T>C (n.*1136T>C)
 dbSNP gnomAD v4
4g.99622852T=CA1480088010MTTPc.*4T= (n.*4T=)
c.*1136T= (n.*1136T=)
4g.99622853G>CCA2578152536MTTPc.*5G>C (n.*5G>C)
c.*1137G>C (n.*1137G>C)
 gnomAD v4
4g.99622854A=CA1480088011MTTPc.*6A= (n.*6A=)
c.*1138A= (n.*1138A=)
4g.99622854A>TCA3022432MTTPc.*6A>T (n.*6A>T)
c.*1138A>T (n.*1138A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622855C=CA1480088012MTTPc.*7C= (n.*7C=)
c.*1139C= (n.*1139C=)
4g.99622855C>TCA800730495MTTPc.*7C>T (n.*7C>T)
c.*1139C>T (n.*1139C>T)
 dbSNP gnomAD v3 gnomAD v4
4g.99622856C>GCA2671535546MTTPc.*8C>G (n.*8C>G)
c.*1140C>G (n.*1140C>G)
 gnomAD v4
4g.99622859T>ACA2671535547MTTPc.*11T>A (n.*11T>A)
c.*1143T>A (n.*1143T>A)
 gnomAD v4
4g.99622860G=CA1480088013MTTPc.*12G= (n.*12G=)
c.*1144G= (n.*1144G=)
4g.99622860G>TCA800730496MTTPc.*12G>T (n.*12G>T)
c.*1144G>T (n.*1144G>T)
 dbSNP
4g.99622861A=CA1480088014MTTPc.*13A= (n.*13A=)
c.*1145A= (n.*1145A=)
4g.99622861A>TCA3022433MTTPc.*13A>T (n.*13A>T)
c.*1145A>T (n.*1145A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622862T>CCA2578152537MTTPc.*14T>C (n.*14T>C)
c.*1146T>C (n.*1146T>C)
4g.99622865T>CCA2565963309MTTPc.*17T>C (n.*17T>C)
c.*1149T>C (n.*1149T>C)
4g.99622865T>GCA2671535548MTTPc.*17T>G (n.*17T>G)
c.*1149T>G (n.*1149T>G)
 gnomAD v4
4g.99622867T>ACA3022435MTTPc.*19T>A (n.*19T>A)
c.*1151T>A (n.*1151T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622867T>CCA800730505MTTPc.*19T>C (n.*19T>C)
c.*1151T>C (n.*1151T>C)
 dbSNP gnomAD v3 gnomAD v4
4g.99622867T>GCA3022434MTTPc.*19T>G (n.*19T>G)
c.*1151T>G (n.*1151T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622867T=CA1480088015MTTPc.*19T= (n.*19T=)
c.*1151T= (n.*1151T=)
4g.99622869C=CA1480088016MTTPc.*21C= (n.*21C=)
c.*1153C= (n.*1153C=)
4g.99622869C>TCA3022436MTTPc.*21C>T (n.*21C>T)
c.*1153C>T (n.*1153C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622870T>CCA3022437MTTPc.*22T>C (n.*22T>C)
c.*1154T>C (n.*1154T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622870T=CA1480088017MTTPc.*22T= (n.*22T=)
c.*1154T= (n.*1154T=)
4g.99622871T>ACA102652544MTTPc.*23T>A (n.*23T>A)
c.*1155T>A (n.*1155T>A)
 dbSNP gnomAD v2 gnomAD v4
4g.99622871T=CA1480088018MTTPc.*23T= (n.*23T=)
c.*1155T= (n.*1155T=)
4g.99622872G>ACA3022438MTTPc.*24G>A (n.*24G>A)
c.*1156G>A (n.*1156G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622872G=CA1480088019MTTPc.*24G= (n.*24G=)
c.*1156G= (n.*1156G=)
4g.99622872G>TCA553568527MTTPc.*24G>T (n.*24G>T)
c.*1156G>T (n.*1156G>T)
 dbSNP gnomAD v2
4g.99622873A=CA1480088020MTTPc.*25A= (n.*25A=)
c.*1157A= (n.*1157A=)
4g.99622873A>GCA3022439MTTPc.*25A>G (n.*25A>G)
c.*1157A>G (n.*1157A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622875T>CCA800730520MTTPc.*27T>C (n.*27T>C)
c.*1159T>C (n.*1159T>C)
 dbSNP gnomAD v4
4g.99622875T=CA1480088021MTTPc.*27T= (n.*27T=)
c.*1159T= (n.*1159T=)
4g.99622876T>ACA2671535549MTTPc.*28T>A (n.*28T>A)
c.*1160T>A (n.*1160T>A)
 gnomAD v4
4g.99622878G=CA1480088022MTTPc.*30G= (n.*30G=)
c.*1162G= (n.*1162G=)
4g.99622878G>TCA1065947088MTTPc.*30G>T (n.*30G>T)
c.*1162G>T (n.*1162G>T)
 dbSNP gnomAD v3 gnomAD v4
4g.99622879T>ACA2671535550MTTPc.*31T>A (n.*31T>A)
c.*1163T>A (n.*1163T>A)
 gnomAD v4
4g.99622879_99622880insACA2762808582MTTPc.*31_*32insA (n.*31_*32insA)
c.*1163_*1164insA (n.*1163_*1164insA)
4g.99622882C>ACA2671535551MTTPc.*34C>A (n.*34C>A)
c.*1166C>A (n.*1166C>A)
 gnomAD v4
4g.99622883C=CA1480088023MTTPc.*35C= (n.*35C=)
c.*1167C= (n.*1167C=)
4g.99622883C>TCA3022440MTTPc.*35C>T (n.*35C>T)
c.*1167C>T (n.*1167C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99622884C>ACA2578152538MTTPc.*36C>A (n.*36C>A)
c.*1168C>A (n.*1168C>A)
4g.99622884C>TCA2578152539MTTPc.*36C>T (n.*36C>T)
c.*1168C>T (n.*1168C>T)
4g.99622885C>ACA2671535552MTTPc.*37C>A (n.*37C>A)
c.*1169C>A (n.*1169C>A)
 gnomAD v4
4g.99622885C=CA1480088024MTTPc.*37C= (n.*37C=)
c.*1169C= (n.*1169C=)
4g.99622885C>TCA3022441MTTPc.*37C>T (n.*37C>T)
c.*1169C>T (n.*1169C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622886G>ACA3022442MTTPc.*38G>A (n.*38G>A)
c.*1170G>A (n.*1170G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99622886G=CA1480088025MTTPc.*38G= (n.*38G=)
c.*1170G= (n.*1170G=)
4g.99622886G>TCA1065947096MTTPc.*38G>T (n.*38G>T)
c.*1170G>T (n.*1170G>T)
 dbSNP gnomAD v3 gnomAD v4
4g.99622886_99622916delinsGAAAGGGACACAATGTGGCATGACTAAGTACCA1480088026MTTPc.*38_*68delinsGAAAGGGACACAATGTGGCATGACTAAGTAC (n.*38_*68delinsGAAAGGGACACAATGTGGCATGACTAAGTAC)
c.*1170_*1200delinsGAAAGGGACACAATGTGGCATGACTAAGTAC (n.*1170_*1200delinsGAAAGGGACACAATGTGGCATGACTAAGTAC)
4g.99622887_99622916delCA553568528MTTPc.*39_*68del (n.*39_*68del)
c.*1171_*1200del (n.*1171_*1200del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99622889A=CA1480088027MTTPc.*41A= (n.*41A=)
c.*1173A= (n.*1173A=)
4g.99622889A>GCA10622076MTTPc.*41A>G (n.*41A>G)
c.*1173A>G (n.*1173A>G)
 ClinVar dbSNP gnomAD v4
4g.99622889_99622891delinsAGGCA1480088028MTTPc.*41_*43delinsAGG (n.*41_*43delinsAGG)
c.*1173_*1175delinsAGG (n.*1173_*1175delinsAGG)
4g.99622890G>ACA2671535553MTTPc.*42G>A (n.*42G>A)
c.*1174G>A (n.*1174G>A)
 gnomAD v4
4g.99622891_99622892delCA1480088029MTTPc.*43_*44del (n.*43_*44del)
c.*1175_*1176del (n.*1175_*1176del)
 dbSNP
4g.99622891G>ACA2671535554MTTPc.*43G>A (n.*43G>A)
c.*1175G>A (n.*1175G>A)
 gnomAD v4

Number of alleles fetched