Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26484579_26484589del | CA2586968847 | OTOF | c.1091_1101del (p.Asp364GlyfsTer9) c.1136_1146del (p.Asp379GlyfsTer9) | |
2 | g.26484582G>A | CA346137881 | OTOF | c.1097C>T (p.Ser366Phe) c.1142C>T (p.Ser381Phe) | gnomAD v4 |
2 | g.26484582G>C | CA346137882 | OTOF | c.1097C>G (p.Ser366Cys) c.1142C>G (p.Ser381Cys) | |
2 | g.26484582G>T | CA346137883 | OTOF | c.1097C>A (p.Ser366Tyr) c.1142C>A (p.Ser381Tyr) | |
2 | g.26484583A>C | CA346137884 | OTOF | c.1096T>G (p.Ser366Ala) c.1141T>G (p.Ser381Ala) | |
2 | g.26484583A>G | CA346137885 | OTOF | c.1096T>C (p.Ser366Pro) c.1141T>C (p.Ser381Pro) | |
2 | g.26484583A>T | CA346137886 | OTOF | c.1096T>A (p.Ser366Thr) c.1141T>A (p.Ser381Thr) | |
2 | g.26484584G>A | CA425207448 | OTOF | c.1095C>T (p.Ile365=) c.1140C>T (p.Ile380=) | |
2 | g.26484584G>C | CA346137887 | OTOF | c.1095C>G (p.Ile365Met) c.1140C>G (p.Ile380Met) | gnomAD v4 |
2 | g.26484584G>T | CA425207450 | OTOF | c.1095C>A (p.Ile365=) c.1140C>A (p.Ile380=) | gnomAD v4 COSMIC |
2 | g.26484585A>C | CA346137888 | OTOF | c.1094T>G (p.Ile365Ser) c.1139T>G (p.Ile380Ser) | |
2 | g.26484585A>G | CA346137889 | OTOF | c.1094T>C (p.Ile365Thr) c.1139T>C (p.Ile380Thr) | gnomAD v4 |
2 | g.26484585A>T | CA346137890 | OTOF | c.1094T>A (p.Ile365Asn) c.1139T>A (p.Ile380Asn) | |
2 | g.26484585_26484586del | CA2529431841 | OTOF | c.1093_1094del (p.Ile365LeufsTer11) c.1138_1139del (p.Ile380LeufsTer11) | |
2 | g.26484586T>A | CA346137891 | OTOF | c.1093A>T (p.Ile365Phe) c.1138A>T (p.Ile380Phe) | |
2 | g.26484586T>C | CA346137893 | OTOF | c.1093A>G (p.Ile365Val) c.1138A>G (p.Ile380Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484586T>G | CA346137892 | OTOF | c.1093A>C (p.Ile365Leu) c.1138A>C (p.Ile380Leu) | dbSNP |
2 | g.26484586T= | CA1239831413 | OTOF | c.1093A= (p.Ile365=) c.1138A= (p.Ile380=) | |
2 | g.26484587G>A | CA425207452 | OTOF | c.1092C>T (p.Asp364=) c.1137C>T (p.Asp379=) | |
2 | g.26484587G>C | CA346137894 | OTOF | c.1092C>G (p.Asp364Glu) c.1137C>G (p.Asp379Glu) | gnomAD v4 |
2 | g.26484587G>T | CA346137895 | OTOF | c.1092C>A (p.Asp364Glu) c.1137C>A (p.Asp379Glu) | |
2 | g.26484588T>A | CA346137896 | OTOF | c.1091A>T (p.Asp364Val) c.1136A>T (p.Asp379Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484588T>C | CA346137898 | OTOF | c.1091A>G (p.Asp364Gly) c.1136A>G (p.Asp379Gly) | dbSNP |
2 | g.26484588T>G | CA346137897 | OTOF | c.1091A>C (p.Asp364Ala) c.1136A>C (p.Asp379Ala) | |
2 | g.26484588T= | CA1239831417 | OTOF | c.1091A= (p.Asp364=) c.1136A= (p.Asp379=) | |
2 | g.26484589C>A | CA346137899 | OTOF | c.1090G>T (p.Asp364Tyr) c.1135G>T (p.Asp379Tyr) | |
2 | g.26484589C>G | CA346137901 | OTOF | c.1090G>C (p.Asp364His) c.1135G>C (p.Asp379His) | |
2 | g.26484589C>T | CA346137900 | OTOF | c.1090G>A (p.Asp364Asn) c.1135G>A (p.Asp379Asn) | |
2 | g.26484590A>C | CA346137902 | OTOF | c.1089T>G (p.Asp363Glu) c.1134T>G (p.Asp378Glu) | gnomAD v4 |
2 | g.26484590A>G | CA425207455 | OTOF | c.1089T>C (p.Asp363=) c.1134T>C (p.Asp378=) | gnomAD v4 |
2 | g.26484590A>T | CA346137903 | OTOF | c.1089T>A (p.Asp363Glu) c.1134T>A (p.Asp378Glu) | |
2 | g.26484590_26484591delinsAT | CA1239831423 | OTOF | c.1088_1089delinsAT (p.Asp363=) c.1133_1134delinsAT (p.Asp378=) | |
2 | g.26484591del | CA1239831425 | OTOF | c.1088del (p.Asp363ValfsTer7) c.1133del (p.Asp378ValfsTer7) | dbSNP |
2 | g.26484591T>A | CA346137904 | OTOF | c.1088A>T (p.Asp363Val) c.1133A>T (p.Asp378Val) | |
2 | g.26484591T>C | CA346137906 | OTOF | c.1088A>G (p.Asp363Gly) c.1133A>G (p.Asp378Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484591T>G | CA346137905 | OTOF | c.1088A>C (p.Asp363Ala) c.1133A>C (p.Asp378Ala) | |
2 | g.26484591T= | CA1239831427 | OTOF | c.1088A= (p.Asp363=) c.1133A= (p.Asp378=) | |
2 | g.26484592C>A | CA346137907 | OTOF | c.1087G>T (p.Asp363Tyr) c.1132G>T (p.Asp378Tyr) | |
2 | g.26484592C= | CA1239831431 | OTOF | c.1087G= (p.Asp363=) c.1132G= (p.Asp378=) | |
2 | g.26484592C>G | CA346137908 | OTOF | c.1087G>C (p.Asp363His) c.1132G>C (p.Asp378His) | |
2 | g.26484592C>T | CA1564380 | OTOF | c.1087G>A (p.Asp363Asn) c.1132G>A (p.Asp378Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26484592_26484593delinsCG | CA1239831433 | OTOF | c.1086_1087delinsCG (p.Pro362=) c.1131_1132delinsCG (p.Pro377=) | |
2 | g.26484593G>A | CA1564381 | OTOF | c.1086C>T (p.Pro362=) c.1131C>T (p.Pro377=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26484593G>C | CA425207462 | OTOF | c.1086C>G (p.Pro362=) c.1131C>G (p.Pro377=) | dbSNP |
2 | g.26484593G= | CA1239831437 | OTOF | c.1086C= (p.Pro362=) c.1131C= (p.Pro377=) | |
2 | g.26484593G>T | CA425207463 | OTOF | c.1086C>A (p.Pro362=) c.1131C>A (p.Pro377=) | |
2 | g.26484596del | CA44403138 | OTOF | c.1086del (p.Asp363MetfsTer7) c.1131del (p.Asp378MetfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484593_26484600del | CA2576699781 | OTOF | c.1079_1086del (p.Ser360Ter) c.1124_1131del (p.Ser375Ter) | |
2 | g.26484594G>A | CA346137909 | OTOF | c.1085C>T (p.Pro362Leu) c.1130C>T (p.Pro377Leu) | |
2 | g.26484594G>C | CA346137910 | OTOF | c.1085C>G (p.Pro362Arg) c.1130C>G (p.Pro377Arg) | |
2 | g.26484594G>T | CA346137911 | OTOF | c.1085C>A (p.Pro362His) c.1130C>A (p.Pro377His) | |
2 | g.26484595G>A | CA346137912 | OTOF | c.1084C>T (p.Pro362Ser) c.1129C>T (p.Pro377Ser) | gnomAD v4 |
2 | g.26484595G>C | CA1564382 | OTOF | c.1084C>G (p.Pro362Ala) c.1129C>G (p.Pro377Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26484595G= | CA1239831440 | OTOF | c.1084C= (p.Pro362=) c.1129C= (p.Pro377=) | |
2 | g.26484595G>T | CA346137913 | OTOF | c.1084C>A (p.Pro362Thr) c.1129C>A (p.Pro377Thr) | |
2 | g.26484596G>A | CA425207469 | OTOF | c.1083C>T (p.Asp361=) c.1128C>T (p.Asp376=) | |
2 | g.26484596G>C | CA346137914 | OTOF | c.1083C>G (p.Asp361Glu) c.1128C>G (p.Asp376Glu) | |
2 | g.26484596G>T | CA346137915 | OTOF | c.1083C>A (p.Asp361Glu) c.1128C>A (p.Asp376Glu) | |
2 | g.26484597T>A | CA346137916 | OTOF | c.1082A>T (p.Asp361Val) c.1127A>T (p.Asp376Val) | |
2 | g.26484597T>C | CA346137918 | OTOF | c.1082A>G (p.Asp361Gly) c.1127A>G (p.Asp376Gly) | |
2 | g.26484597T>G | CA346137917 | OTOF | c.1082A>C (p.Asp361Ala) c.1127A>C (p.Asp376Ala) | |
2 | g.26484598C>A | CA346137919 | OTOF | c.1081G>T (p.Asp361Tyr) c.1126G>T (p.Asp376Tyr) | |
2 | g.26484598C>G | CA346137920 | OTOF | c.1081G>C (p.Asp361His) c.1126G>C (p.Asp376His) | |
2 | g.26484598C>T | CA346137921 | OTOF | c.1081G>A (p.Asp361Asn) c.1126G>A (p.Asp376Asn) | |
2 | g.26484599A= | CA1239831443 | OTOF | c.1080T= (p.Ser360=) c.1125T= (p.Ser375=) | |
2 | g.26484599A>C | CA425207472 | OTOF | c.1080T>G (p.Ser360=) c.1125T>G (p.Ser375=) | dbSNP |
2 | g.26484599A>G | CA425207473 | OTOF | c.1080T>C (p.Ser360=) c.1125T>C (p.Ser375=) | |
2 | g.26484599A>T | CA425207474 | OTOF | c.1080T>A (p.Ser360=) c.1125T>A (p.Ser375=) | |
2 | g.26484600G>A | CA346137922 | OTOF | c.1079C>T (p.Ser360Phe) c.1124C>T (p.Ser375Phe) | |
2 | g.26484600G>C | CA346137923 | OTOF | c.1079C>G (p.Ser360Cys) c.1124C>G (p.Ser375Cys) | |
2 | g.26484600G>T | CA346137924 | OTOF | c.1079C>A (p.Ser360Tyr) c.1124C>A (p.Ser375Tyr) | |
2 | g.26484601A>C | CA346137925 | OTOF | c.1078T>G (p.Ser360Ala) c.1123T>G (p.Ser375Ala) | |
2 | g.26484601A>G | CA346137926 | OTOF | c.1078T>C (p.Ser360Pro) c.1123T>C (p.Ser375Pro) | |
2 | g.26484601A>T | CA346137927 | OTOF | c.1078T>A (p.Ser360Thr) c.1123T>A (p.Ser375Thr) | |
2 | g.26484602C>A | CA425207476 | OTOF | c.1077G>T (p.Leu359=) c.1122G>T (p.Leu374=) | |
2 | g.26484602C= | CA1239831447 | OTOF | c.1077G= (p.Leu359=) c.1122G= (p.Leu374=) | |
2 | g.26484602C>G | CA425207481 | OTOF | c.1077G>C (p.Leu359=) c.1122G>C (p.Leu374=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484602C>T | CA425207478 | OTOF | c.1077G>A (p.Leu359=) c.1122G>A (p.Leu374=) | |
2 | g.26484603A>C | CA346137930 | OTOF | c.1076T>G (p.Leu359Arg) c.1121T>G (p.Leu374Arg) | |
2 | g.26484603A>G | CA346137929 | OTOF | c.1076T>C (p.Leu359Pro) c.1121T>C (p.Leu374Pro) | |
2 | g.26484603A>T | CA346137928 | OTOF | c.1076T>A (p.Leu359Gln) c.1121T>A (p.Leu374Gln) | |
2 | g.26484604G>A | CA425207483 | OTOF | c.1075C>T (p.Leu359=) c.1120C>T (p.Leu374=) | |
2 | g.26484604G>C | CA346137931 | OTOF | c.1075C>G (p.Leu359Val) c.1120C>G (p.Leu374Val) | |
2 | g.26484604G>T | CA346137932 | OTOF | c.1075C>A (p.Leu359Met) c.1120C>A (p.Leu374Met) | |
2 | g.26484605G>A | CA425207484 | OTOF | c.1074C>T (p.Ile358=) c.1119C>T (p.Ile373=) | |
2 | g.26484605G>C | CA346137933 | OTOF | c.1074C>G (p.Ile358Met) c.1119C>G (p.Ile373Met) | |
2 | g.26484605G>T | CA425207485 | OTOF | c.1074C>A (p.Ile358=) c.1119C>A (p.Ile373=) | |
2 | g.26484606A>C | CA346137934 | OTOF | c.1073T>G (p.Ile358Ser) c.1118T>G (p.Ile373Ser) | |
2 | g.26484606A>G | CA346137935 | OTOF | c.1073T>C (p.Ile358Thr) c.1118T>C (p.Ile373Thr) | |
2 | g.26484606A>T | CA346137936 | OTOF | c.1073T>A (p.Ile358Asn) c.1118T>A (p.Ile373Asn) | |
2 | g.26484607T>A | CA346137937 | OTOF | c.1072A>T (p.Ile358Phe) c.1117A>T (p.Ile373Phe) | |
2 | g.26484607T>C | CA346137938 | OTOF | c.1072A>G (p.Ile358Val) c.1117A>G (p.Ile373Val) | |
2 | g.26484607T>G | CA346137939 | OTOF | c.1072A>C (p.Ile358Leu) c.1117A>C (p.Ile373Leu) | |
2 | g.26484608G>A | CA425207489 | OTOF | c.1071C>T (p.Ala357=) c.1116C>T (p.Ala372=) | |
2 | g.26484608G>C | CA425207490 | OTOF | c.1071C>G (p.Ala357=) c.1116C>G (p.Ala372=) | |
2 | g.26484608G= | CA1239831450 | OTOF | c.1071C= (p.Ala357=) c.1116C= (p.Ala372=) | |
2 | g.26484608G>T | CA1564383 | OTOF | c.1071C>A (p.Ala357=) c.1116C>A (p.Ala372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484608_26484609insAA | CA2749240870 | OTOF | c.1070_1071insTT (p.Ile358SerfsTer13) c.1115_1116insTT (p.Ile373SerfsTer13) | |
2 | g.26484609G>A | CA346137940 | OTOF | c.1070C>T (p.Ala357Val) c.1115C>T (p.Ala372Val) | COSMIC |
2 | g.26484609G>C | CA346137941 | OTOF | c.1070C>G (p.Ala357Gly) c.1115C>G (p.Ala372Gly) | |
2 | g.26484609G>T | CA346137942 | OTOF | c.1070C>A (p.Ala357Asp) c.1115C>A (p.Ala372Asp) | |
2 | g.26484610C>A | CA346137943 | OTOF | c.1069G>T (p.Ala357Ser) c.1114G>T (p.Ala372Ser) | |
2 | g.26484610C>G | CA346137945 | OTOF | c.1069G>C (p.Ala357Pro) c.1114G>C (p.Ala372Pro) | |
2 | g.26484610C>T | CA346137944 | OTOF | c.1069G>A (p.Ala357Thr) c.1114G>A (p.Ala372Thr) | |
2 | g.26484611C>A | CA346137946 | OTOF | c.1068G>T (p.Trp356Cys) c.1113G>T (p.Trp371Cys) | |
2 | g.26484611C>G | CA346137947 | OTOF | c.1068G>C (p.Trp356Cys) c.1113G>C (p.Trp371Cys) | |
2 | g.26484611C>T | CA346137948 | OTOF | c.1068G>A (p.Trp356Ter) c.1113G>A (p.Trp371Ter) | ClinVar |
2 | g.26484612C>A | CA346137949 | OTOF | c.1067G>T (p.Trp356Leu) c.1112G>T (p.Trp371Leu) | |
2 | g.26484612C>G | CA346137950 | OTOF | c.1067G>C (p.Trp356Ser) c.1112G>C (p.Trp371Ser) | |
2 | g.26484612C>T | CA346137951 | OTOF | c.1067G>A (p.Trp356Ter) c.1112G>A (p.Trp371Ter) | ClinVar gnomAD v4 |
2 | g.26484613A>C | CA346137952 | OTOF | c.1066T>G (p.Trp356Gly) c.1111T>G (p.Trp371Gly) | |
2 | g.26484613A>G | CA346137953 | OTOF | c.1066T>C (p.Trp356Arg) c.1111T>C (p.Trp371Arg) | gnomAD v4 |
2 | g.26484613A>T | CA346137954 | OTOF | c.1066T>A (p.Trp356Arg) c.1111T>A (p.Trp371Arg) | |
2 | g.26484614C>A | CA346137955 | OTOF | c.1065G>T (p.Lys355Asn) c.1110G>T (p.Lys370Asn) | |
2 | g.26484614C>G | CA346137956 | OTOF | c.1065G>C (p.Lys355Asn) c.1110G>C (p.Lys370Asn) | |
2 | g.26484614C>T | CA425207501 | OTOF | c.1065G>A (p.Lys355=) c.1110G>A (p.Lys370=) | |
2 | g.26484615T>A | CA346137958 | OTOF | c.1064A>T (p.Lys355Met) c.1109A>T (p.Lys370Met) | |
2 | g.26484615T>C | CA1564384 | OTOF | c.1064A>G (p.Lys355Arg) c.1109A>G (p.Lys370Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484615T>G | CA346137957 | OTOF | c.1064A>C (p.Lys355Thr) c.1109A>C (p.Lys370Thr) | |
2 | g.26484615T= | CA1239831454 | OTOF | c.1064A= (p.Lys355=) c.1109A= (p.Lys370=) | |
2 | g.26484616T>A | CA346137959 | OTOF | c.1063A>T (p.Lys355Ter) c.1108A>T (p.Lys370Ter) | gnomAD v4 |
2 | g.26484616T>C | CA346137960 | OTOF | c.1063A>G (p.Lys355Glu) c.1108A>G (p.Lys370Glu) | |
2 | g.26484616T>G | CA346137961 | OTOF | c.1063A>C (p.Lys355Gln) c.1108A>C (p.Lys370Gln) | |
2 | g.26484617G>A | CA425207503 | OTOF | c.1062C>T (p.His354=) c.1107C>T (p.His369=) | |
2 | g.26484617G>C | CA346137962 | OTOF | c.1062C>G (p.His354Gln) c.1107C>G (p.His369Gln) | |
2 | g.26484617G>T | CA346137963 | OTOF | c.1062C>A (p.His354Gln) c.1107C>A (p.His369Gln) | |
2 | g.26484618T>A | CA346137966 | OTOF | c.1061A>T (p.His354Leu) c.1106A>T (p.His369Leu) | COSMIC |
2 | g.26484618T>C | CA346137964 | OTOF | c.1061A>G (p.His354Arg) c.1106A>G (p.His369Arg) | |
2 | g.26484618T>G | CA346137965 | OTOF | c.1061A>C (p.His354Pro) c.1106A>C (p.His369Pro) | |
2 | g.26484619G>A | CA346137967 | OTOF | c.1060C>T (p.His354Tyr) c.1105C>T (p.His369Tyr) | COSMIC |
2 | g.26484619G>C | CA346137968 | OTOF | c.1060C>G (p.His354Asp) c.1105C>G (p.His369Asp) | |
2 | g.26484619G>T | CA346137969 | OTOF | c.1060C>A (p.His354Asn) c.1105C>A (p.His369Asn) | |
2 | g.26484620A>C | CA346137970 | OTOF | c.1059T>G (p.His353Gln) c.1104T>G (p.His368Gln) | |
2 | g.26484620A>G | CA425207504 | OTOF | c.1059T>C (p.His353=) c.1104T>C (p.His368=) | |
2 | g.26484620A>T | CA346137971 | OTOF | c.1059T>A (p.His353Gln) c.1104T>A (p.His368Gln) | |
2 | g.26484621T>A | CA346137974 | OTOF | c.1058A>T (p.His353Leu) c.1103A>T (p.His368Leu) | |
2 | g.26484621T>C | CA346137972 | OTOF | c.1058A>G (p.His353Arg) c.1103A>G (p.His368Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484621T>G | CA346137973 | OTOF | c.1058A>C (p.His353Pro) c.1103A>C (p.His368Pro) | |
2 | g.26484621T= | CA1239831456 | OTOF | c.1058A= (p.His353=) c.1103A= (p.His368=) | |
2 | g.26484622G>A | CA346137975 | OTOF | c.1057C>T (p.His353Tyr) c.1102C>T (p.His368Tyr) | |
2 | g.26484622G>C | CA346137976 | OTOF | c.1057C>G (p.His353Asp) c.1102C>G (p.His368Asp) | |
2 | g.26484622G>T | CA346137977 | OTOF | c.1057C>A (p.His353Asn) c.1102C>A (p.His368Asn) | |
2 | g.26484623G>A | CA425207505 | OTOF | c.1056C>T (p.Phe352=) c.1101C>T (p.Phe367=) | |
2 | g.26484623G>C | CA346137978 | OTOF | c.1056C>G (p.Phe352Leu) c.1101C>G (p.Phe367Leu) | gnomAD v4 |
2 | g.26484623G>T | CA346137979 | OTOF | c.1056C>A (p.Phe352Leu) c.1101C>A (p.Phe367Leu) | |
2 | g.26484624A= | CA1239831459 | OTOF | c.1055T= (p.Phe352=) c.1100T= (p.Phe367=) | |
2 | g.26484624A>C | CA346137980 | OTOF | c.1055T>G (p.Phe352Cys) c.1100T>G (p.Phe367Cys) | dbSNP |
2 | g.26484624A>G | CA346137981 | OTOF | c.1055T>C (p.Phe352Ser) c.1100T>C (p.Phe367Ser) | |
2 | g.26484624A>T | CA346137982 | OTOF | c.1055T>A (p.Phe352Tyr) c.1100T>A (p.Phe367Tyr) | |
2 | g.26484625A>C | CA346137983 | OTOF | c.1054T>G (p.Phe352Val) c.1099T>G (p.Phe367Val) | |
2 | g.26484625A>G | CA346137984 | OTOF | c.1054T>C (p.Phe352Leu) c.1099T>C (p.Phe367Leu) | |
2 | g.26484625A>T | CA346137985 | OTOF | c.1054T>A (p.Phe352Ile) c.1099T>A (p.Phe367Ile) | |
2 | g.26484626C>A | CA346137986 | OTOF | c.1053G>T (p.Gln351His) c.1098G>T (p.Gln366His) | |
2 | g.26484626C>G | CA346137987 | OTOF | c.1053G>C (p.Gln351His) c.1098G>C (p.Gln366His) | |
2 | g.26484626C>T | CA425207506 | OTOF | c.1053G>A (p.Gln351=) c.1098G>A (p.Gln366=) | |
2 | g.26484627T>A | CA346137988 | OTOF | c.1052A>T (p.Gln351Leu) c.1097A>T (p.Gln366Leu) | |
2 | g.26484627T>C | CA346137990 | OTOF | c.1052A>G (p.Gln351Arg) c.1097A>G (p.Gln366Arg) | dbSNP gnomAD v4 |
2 | g.26484627T>G | CA346137989 | OTOF | c.1052A>C (p.Gln351Pro) c.1097A>C (p.Gln366Pro) | |
2 | g.26484627T= | CA1239831462 | OTOF | c.1052A= (p.Gln351=) c.1097A= (p.Gln366=) | |
2 | g.26484628G>A | CA346137991 | OTOF | c.1051C>T (p.Gln351Ter) c.1096C>T (p.Gln366Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.26484628G>C | CA346137992 | OTOF | c.1051C>G (p.Gln351Glu) c.1096C>G (p.Gln366Glu) | gnomAD v4 |
2 | g.26484628G= | CA1239831472 | OTOF | c.1051C= (p.Gln351=) c.1096C= (p.Gln366=) | |
2 | g.26484628G>T | CA346137993 | OTOF | c.1051C>A (p.Gln351Lys) c.1096C>A (p.Gln366Lys) | |
2 | g.26484629G>A | CA425207507 | OTOF | c.1050C>T (p.His350=) c.1095C>T (p.His365=) | |
2 | g.26484629G>C | CA346137994 | OTOF | c.1050C>G (p.His350Gln) c.1095C>G (p.His365Gln) | |
2 | g.26484629G>T | CA346137995 | OTOF | c.1050C>A (p.His350Gln) c.1095C>A (p.His365Gln) | |
2 | g.26484630T>A | CA346137996 | OTOF | c.1049A>T (p.His350Leu) c.1094A>T (p.His365Leu) | gnomAD v4 |
2 | g.26484630T>C | CA346137997 | OTOF | c.1049A>G (p.His350Arg) c.1094A>G (p.His365Arg) | |
2 | g.26484630T>G | CA346137998 | OTOF | c.1049A>C (p.His350Pro) c.1094A>C (p.His365Pro) | |
2 | g.26484631G>A | CA346137999 | OTOF | c.1048C>T (p.His350Tyr) c.1093C>T (p.His365Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484631G>C | CA346138000 | OTOF | c.1048C>G (p.His350Asp) c.1093C>G (p.His365Asp) | |
2 | g.26484631G= | CA1239831476 | OTOF | c.1048C= (p.His350=) c.1093C= (p.His365=) | |
2 | g.26484631G>T | CA346138001 | OTOF | c.1048C>A (p.His350Asn) c.1093C>A (p.His365Asn) | |
2 | g.26484632C>A | CA346138002 | OTOF | c.1047G>T (p.Glu349Asp) c.1092G>T (p.Glu364Asp) | |
2 | g.26484632C= | CA1239831478 | OTOF | c.1047G= (p.Glu349=) c.1092G= (p.Glu364=) | |
2 | g.26484632C>G | CA346138003 | OTOF | c.1047G>C (p.Glu349Asp) c.1092G>C (p.Glu364Asp) | |
2 | g.26484632C>T | CA425207508 | OTOF | c.1047G>A (p.Glu349=) c.1092G>A (p.Glu364=) | dbSNP |
2 | g.26484633T>A | CA346138006 | OTOF | c.1046A>T (p.Glu349Val) c.1091A>T (p.Glu364Val) | |
2 | g.26484633T>C | CA346138004 | OTOF | c.1046A>G (p.Glu349Gly) c.1091A>G (p.Glu364Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484633T>G | CA346138005 | OTOF | c.1046A>C (p.Glu349Ala) c.1091A>C (p.Glu364Ala) | |
2 | g.26484633T= | CA1239831482 | OTOF | c.1046A= (p.Glu349=) c.1091A= (p.Glu364=) | |
2 | g.26484634C>A | CA346138007 | OTOF | c.1046-1G>T (n.1046-1G>T) c.1091-1G>T (n.1091-1G>T) | |
2 | g.26484634C= | CA1239831485 | OTOF | c.1046-1G= (n.1046-1G=) c.1091-1G= (n.1091-1G=) | |
2 | g.26484634C>G | CA346138008 | OTOF | c.1046-1G>C (n.1046-1G>C) c.1091-1G>C (n.1091-1G>C) | gnomAD v4 |
2 | g.26484634C>T | CA346138009 | OTOF | c.1046-1G>A (n.1046-1G>A) c.1091-1G>A (n.1091-1G>A) | dbSNP gnomAD v4 |
2 | g.26484635T>A | CA346138010 | OTOF | c.1046-2A>T (n.1046-2A>T) c.1091-2A>T (n.1091-2A>T) | |
2 | g.26484635T>C | CA346138011 | OTOF | c.1046-2A>G (n.1046-2A>G) c.1091-2A>G (n.1091-2A>G) | |
2 | g.26484635T>G | CA346138012 | OTOF | c.1046-2A>C (n.1046-2A>C) c.1091-2A>C (n.1091-2A>C) | |
2 | g.26484636G= | CA1239831487 | OTOF | c.1046-3C= (n.1046-3C=) c.1091-3C= (n.1091-3C=) | |
2 | g.26484636G>T | CA1239831488 | OTOF | c.1046-3C>A (n.1046-3C>A) c.1091-3C>A (n.1091-3C>A) | dbSNP |
2 | g.26484637C>A | CA1239831491 | OTOF | c.1046-4G>T (n.1046-4G>T) c.1091-4G>T (n.1091-4G>T) | dbSNP |
2 | g.26484637C= | CA1239831490 | OTOF | c.1046-4G= (n.1046-4G=) c.1091-4G= (n.1091-4G=) | |
2 | g.26484638A>G | CA2658240038 | OTOF | c.1046-5T>C (n.1046-5T>C) c.1091-5T>C (n.1091-5T>C) | gnomAD v4 |
2 | g.26484640T>C | CA1564385 | OTOF | c.1046-7A>G (n.1046-7A>G) c.1091-7A>G (n.1091-7A>G) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.26484640T= | CA1239831493 | OTOF | c.1046-7A= (n.1046-7A=) c.1091-7A= (n.1091-7A=) | |
2 | g.26484641G>A | CA2658240039 | OTOF | c.1046-8C>T (n.1046-8C>T) c.1091-8C>T (n.1091-8C>T) | gnomAD v4 |
2 | g.26484642A= | CA1239831496 | OTOF | c.1046-9T= (n.1046-9T=) c.1091-9T= (n.1091-9T=) | |
2 | g.26484642A>C | CA531396770 | OTOF | c.1046-9T>G (n.1046-9T>G) c.1091-9T>G (n.1091-9T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484642A>G | CA2576699782 | OTOF | c.1046-9T>C (n.1046-9T>C) c.1091-9T>C (n.1091-9T>C) | |
2 | g.26484643T>C | CA1239831500 | OTOF | c.1046-10A>G (n.1046-10A>G) c.1091-10A>G (n.1091-10A>G) | ClinVar dbSNP |
2 | g.26484643T= | CA1239831499 | OTOF | c.1046-10A= (n.1046-10A=) c.1091-10A= (n.1091-10A=) | |
2 | g.26484645A= | CA1239831502 | OTOF | c.1046-12T= (n.1046-12T=) c.1091-12T= (n.1091-12T=) | |
2 | g.26484645A>C | CA531396771 | OTOF | c.1046-12T>G (n.1046-12T>G) c.1091-12T>G (n.1091-12T>G) | dbSNP gnomAD v2 |
2 | g.26484646G>A | CA531396772 | OTOF | c.1046-13C>T (n.1046-13C>T) c.1091-13C>T (n.1091-13C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484646G= | CA1239831505 | OTOF | c.1046-13C= (n.1046-13C=) c.1091-13C= (n.1091-13C=) | |
2 | g.26484647G>A | CA1239831508 | OTOF | c.1046-14C>T (n.1046-14C>T) c.1091-14C>T (n.1091-14C>T) | dbSNP gnomAD v4 |
2 | g.26484647G>C | CA1239831507 | OTOF | c.1046-14C>G (n.1046-14C>G) c.1091-14C>G (n.1091-14C>G) | dbSNP gnomAD v4 |
2 | g.26484647G= | CA1239831506 | OTOF | c.1046-14C= (n.1046-14C=) c.1091-14C= (n.1091-14C=) | |
2 | g.26484648G>A | CA531396773 | OTOF | c.1046-15C>T (n.1046-15C>T) c.1091-15C>T (n.1091-15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484648G= | CA1239831510 | OTOF | c.1046-15C= (n.1046-15C=) c.1091-15C= (n.1091-15C=) | |
2 | g.26484648G>T | CA531396774 | OTOF | c.1046-15C>A (n.1046-15C>A) c.1091-15C>A (n.1091-15C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484649G>A | CA2739274170 | OTOF | c.1046-16C>T (n.1046-16C>T) c.1091-16C>T (n.1091-16C>T) | ClinVar |
2 | g.26484649G>C | CA1564386 | OTOF | c.1046-16C>G (n.1046-16C>G) c.1091-16C>G (n.1091-16C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484649G= | CA1239831512 | OTOF | c.1046-16C= (n.1046-16C=) c.1091-16C= (n.1091-16C=) | |
2 | g.26484651G>A | CA1564387 | OTOF | c.1046-18C>T (n.1046-18C>T) c.1091-18C>T (n.1091-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484651G= | CA1239831514 | OTOF | c.1046-18C= (n.1046-18C=) c.1091-18C= (n.1091-18C=) | |
2 | g.26484652G>A | CA2658240046 | OTOF | c.1046-19C>T (n.1046-19C>T) c.1091-19C>T (n.1091-19C>T) | gnomAD v4 |
2 | g.26484653G>A | CA2576699783 | OTOF | c.1046-20C>T (n.1046-20C>T) c.1091-20C>T (n.1091-20C>T) | |
2 | g.26484654C= | CA1239831516 | OTOF | c.1046-21G= (n.1046-21G=) c.1091-21G= (n.1091-21G=) | |
2 | g.26484654C>T | CA1564388 | OTOF | c.1046-21G>A (n.1046-21G>A) c.1091-21G>A (n.1091-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26484655A= | CA1239831518 | OTOF | c.1046-22T= (n.1046-22T=) c.1091-22T= (n.1091-22T=) | |
2 | g.26484655A>G | CA1239831519 | OTOF | c.1046-22T>C (n.1046-22T>C) c.1091-22T>C (n.1091-22T>C) | dbSNP |
2 | g.26484658G>A | CA2658240047 | OTOF | c.1046-25C>T (n.1046-25C>T) c.1091-25C>T (n.1091-25C>T) | gnomAD v4 |
2 | g.26484659C= | CA1239831521 | OTOF | c.1046-26G= (n.1046-26G=) c.1091-26G= (n.1091-26G=) | |
2 | g.26484659C>T | CA531396775 | OTOF | c.1046-26G>A (n.1046-26G>A) c.1091-26G>A (n.1091-26G>A) | dbSNP gnomAD v2 COSMIC |
2 | g.26484661C>G | CA2658240048 | OTOF | c.1046-28G>C (n.1046-28G>C) c.1091-28G>C (n.1091-28G>C) | gnomAD v4 |
2 | g.26484661C>T | CA2749240871 | OTOF | c.1046-28G>A (n.1046-28G>A) c.1091-28G>A (n.1091-28G>A) | |
2 | g.26484662C= | CA1239831524 | OTOF | c.1046-29G= (n.1046-29G=) c.1091-29G= (n.1091-29G=) | |
2 | g.26484662C>T | CA531396776 | OTOF | c.1046-29G>A (n.1046-29G>A) c.1091-29G>A (n.1091-29G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484663A>C | CA2576699784 | OTOF | c.1046-30T>G (n.1046-30T>G) c.1091-30T>G (n.1091-30T>G) | gnomAD v4 |
2 | g.26484664G>A | CA2749240872 | OTOF | c.1046-31C>T (n.1046-31C>T) c.1091-31C>T (n.1091-31C>T) | |
2 | g.26484665A>G | CA2594511539 | OTOF | c.1046-32T>C (n.1046-32T>C) c.1091-32T>C (n.1091-32T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484666C= | CA1239831526 | OTOF | c.1046-33G= (n.1046-33G=) c.1091-33G= (n.1091-33G=) | |
2 | g.26484666C>T | CA531396777 | OTOF | c.1046-33G>A (n.1046-33G>A) c.1091-33G>A (n.1091-33G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484667A>G | CA2698921073 | OTOF | c.1046-34T>C (n.1046-34T>C) c.1091-34T>C (n.1091-34T>C) | dbSNP |
2 | g.26484668C>A | CA44403152 | OTOF | c.1046-35G>T (n.1046-35G>T) c.1091-35G>T (n.1091-35G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484668C= | CA1239831528 | OTOF | c.1046-35G= (n.1046-35G=) c.1091-35G= (n.1091-35G=) | |
2 | g.26484668C>G | CA2658240051 | OTOF | c.1046-35G>C (n.1046-35G>C) c.1091-35G>C (n.1091-35G>C) | gnomAD v4 |
2 | g.26484668C>T | CA2576699786 | OTOF | c.1046-35G>A (n.1046-35G>A) c.1091-35G>A (n.1091-35G>A) | |
2 | g.26484672del | CA2576699785 | OTOF | c.1046-35del (n.1046-35del) c.1091-35del (n.1091-35del) | |
2 | g.26484668_26484669insA | CA2749240873 | OTOF | c.1046-36_1046-35insT (n.1046-36_1046-35insT) c.1091-36_1091-35insT (n.1091-36_1091-35insT) | |
2 | g.26484669C= | CA1239831531 | OTOF | c.1046-36G= (n.1046-36G=) c.1091-36G= (n.1091-36G=) | |
2 | g.26484669C>T | CA531396778 | OTOF | c.1046-36G>A (n.1046-36G>A) c.1091-36G>A (n.1091-36G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484670C>G | CA2658240054 | OTOF | c.1046-37G>C (n.1046-37G>C) c.1091-37G>C (n.1091-37G>C) | gnomAD v4 |
2 | g.26484671C>A | CA2527486856 | OTOF | c.1046-38G>T (n.1046-38G>T) c.1091-38G>T (n.1091-38G>T) | |
2 | g.26484672C>A | CA531396779 | OTOF | c.1046-39G>T (n.1046-39G>T) c.1091-39G>T (n.1091-39G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484672C= | CA1239831533 | OTOF | c.1046-39G= (n.1046-39G=) c.1091-39G= (n.1091-39G=) | |
2 | g.26484672C>G | CA2749240874 | OTOF | c.1046-39G>C (n.1046-39G>C) c.1091-39G>C (n.1091-39G>C) | |
2 | g.26484673A>C | CA2658240056 | OTOF | c.1046-40T>G (n.1046-40T>G) c.1091-40T>G (n.1091-40T>G) | gnomAD v4 |
2 | g.26484674C>A | CA1239831538 | OTOF | c.1046-41G>T (n.1046-41G>T) c.1091-41G>T (n.1091-41G>T) | dbSNP gnomAD v4 |
2 | g.26484674C= | CA1239831536 | OTOF | c.1046-41G= (n.1046-41G=) c.1091-41G= (n.1091-41G=) | |
2 | g.26484674C>G | CA531396780 | OTOF | c.1046-41G>C (n.1046-41G>C) c.1091-41G>C (n.1091-41G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26484674C>T | CA1564389 | OTOF | c.1046-41G>A (n.1046-41G>A) c.1091-41G>A (n.1091-41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484675C>A | CA2749240875 | OTOF | c.1046-42G>T (n.1046-42G>T) c.1091-42G>T (n.1091-42G>T) | |
2 | g.26484675C>T | CA2658240058 | OTOF | c.1046-42G>A (n.1046-42G>A) c.1091-42G>A (n.1091-42G>A) | gnomAD v4 |
2 | g.26484676C>A | CA2658240060 | OTOF | c.1046-43G>T (n.1046-43G>T) c.1091-43G>T (n.1091-43G>T) | gnomAD v4 |
2 | g.26484677A>G | CA2658240061 | OTOF | c.1046-44T>C (n.1046-44T>C) c.1091-44T>C (n.1091-44T>C) | gnomAD v4 |
2 | g.26484678G>T | CA2658240062 | OTOF | c.1046-45C>A (n.1046-45C>A) c.1091-45C>A (n.1091-45C>A) | gnomAD v4 |
2 | g.26484679A= | CA1239831540 | OTOF | c.1046-46T= (n.1046-46T=) c.1091-46T= (n.1091-46T=) | |
2 | g.26484679A>T | CA44403154 | OTOF | c.1046-46T>A (n.1046-46T>A) c.1091-46T>A (n.1091-46T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26484680G>A | CA2658240064 | OTOF | c.1046-47C>T (n.1046-47C>T) c.1091-47C>T (n.1091-47C>T) | gnomAD v4 |
2 | g.26484680G>T | CA2536516462 | OTOF | c.1046-47C>A (n.1046-47C>A) c.1091-47C>A (n.1091-47C>A) | |
2 | g.26484681C= | CA1239831542 | OTOF | c.1046-48G= (n.1046-48G=) c.1091-48G= (n.1091-48G=) | |
2 | g.26484681C>T | CA1564390 | OTOF | c.1046-48G>A (n.1046-48G>A) c.1091-48G>A (n.1091-48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484682G>A | CA1564391 | OTOF | c.1046-49C>T (n.1046-49C>T) c.1091-49C>T (n.1091-49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26484682G= | CA1239831545 | OTOF | c.1046-49C= (n.1046-49C=) c.1091-49C= (n.1091-49C=) | |
2 | g.26484682G>T | CA1564392 | OTOF | c.1046-49C>A (n.1046-49C>A) c.1091-49C>A (n.1091-49C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |