Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26474624del | CA273582 | OTOF | c.3178del (p.Ala1060GlnfsTer?) c.937del (p.Ala313GlnfsTer?) c.1108del (p.Ala370GlnfsTer?) c.3223del (p.Ala1075GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
2 | g.26474624C>A | CA346109252 | OTOF | c.3177G>T (p.Met1059Ile) c.936G>T (p.Met312Ile) c.1107G>T (p.Met369Ile) c.3222G>T (p.Met1074Ile) | |
2 | g.26474624C>G | CA346109231 | OTOF | c.3177G>C (p.Met1059Ile) c.936G>C (p.Met312Ile) c.1107G>C (p.Met369Ile) c.3222G>C (p.Met1074Ile) | |
2 | g.26474624C>T | CA346109240 | OTOF | c.3177G>A (p.Met1059Ile) c.936G>A (p.Met312Ile) c.1107G>A (p.Met369Ile) c.3222G>A (p.Met1074Ile) | |
2 | g.26474625A= | CA1239826496 | OTOF | c.3176T= (p.Met1059=) c.935T= (p.Met312=) c.1106T= (p.Met369=) c.3221T= (p.Met1074=) | |
2 | g.26474625A>C | CA346109256 | OTOF | c.3176T>G (p.Met1059Arg) c.935T>G (p.Met312Arg) c.1106T>G (p.Met369Arg) c.3221T>G (p.Met1074Arg) | |
2 | g.26474625A>G | CA346109259 | OTOF | c.3176T>C (p.Met1059Thr) c.935T>C (p.Met312Thr) c.1106T>C (p.Met369Thr) c.3221T>C (p.Met1074Thr) | dbSNP gnomAD v4 |
2 | g.26474625A>T | CA346109263 | OTOF | c.3176T>A (p.Met1059Lys) c.935T>A (p.Met312Lys) c.1106T>A (p.Met369Lys) c.3221T>A (p.Met1074Lys) | |
2 | g.26474626T>A | CA346109269 | OTOF | c.3175A>T (p.Met1059Leu) c.934A>T (p.Met312Leu) c.1105A>T (p.Met369Leu) c.3220A>T (p.Met1074Leu) | |
2 | g.26474626T>C | CA346109275 | OTOF | c.3175A>G (p.Met1059Val) c.934A>G (p.Met312Val) c.1105A>G (p.Met369Val) c.3220A>G (p.Met1074Val) | |
2 | g.26474626T>G | CA346109278 | OTOF | c.3175A>C (p.Met1059Leu) c.934A>C (p.Met312Leu) c.1105A>C (p.Met369Leu) c.3220A>C (p.Met1074Leu) | |
2 | g.26474627C>A | CA346109290 | OTOF | c.3174G>T (p.Lys1058Asn) c.933G>T (p.Lys311Asn) c.1104G>T (p.Lys368Asn) c.3219G>T (p.Lys1073Asn) | |
2 | g.26474627C= | CA1239826502 | OTOF | c.3174G= (p.Lys1058=) c.933G= (p.Lys311=) c.1104G= (p.Lys368=) c.3219G= (p.Lys1073=) | |
2 | g.26474627C>G | CA346109289 | OTOF | c.3174G>C (p.Lys1058Asn) c.933G>C (p.Lys311Asn) c.1104G>C (p.Lys368Asn) c.3219G>C (p.Lys1073Asn) | gnomAD v4 |
2 | g.26474627C>T | CA1563638 | OTOF | c.3174G>A (p.Lys1058=) c.933G>A (p.Lys311=) c.1104G>A (p.Lys368=) c.3219G>A (p.Lys1073=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26474628T>A | CA346109294 | OTOF | c.3173A>T (p.Lys1058Met) c.932A>T (p.Lys311Met) c.1103A>T (p.Lys368Met) c.3218A>T (p.Lys1073Met) | |
2 | g.26474628T>C | CA346109296 | OTOF | c.3173A>G (p.Lys1058Arg) c.932A>G (p.Lys311Arg) c.1103A>G (p.Lys368Arg) c.3218A>G (p.Lys1073Arg) | |
2 | g.26474628T>G | CA346109298 | OTOF | c.3173A>C (p.Lys1058Thr) c.932A>C (p.Lys311Thr) c.1103A>C (p.Lys368Thr) c.3218A>C (p.Lys1073Thr) | |
2 | g.26474629T>A | CA346109301 | OTOF | c.3172A>T (p.Lys1058Ter) c.931A>T (p.Lys311Ter) c.1102A>T (p.Lys368Ter) c.3217A>T (p.Lys1073Ter) | |
2 | g.26474629T>C | CA346109304 | OTOF | c.3172A>G (p.Lys1058Glu) c.931A>G (p.Lys311Glu) c.1102A>G (p.Lys368Glu) c.3217A>G (p.Lys1073Glu) | |
2 | g.26474629T>G | CA346109306 | OTOF | c.3172A>C (p.Lys1058Gln) c.931A>C (p.Lys311Gln) c.1102A>C (p.Lys368Gln) c.3217A>C (p.Lys1073Gln) | |
2 | g.26474630C>A | CA425203819 | OTOF | c.3171G>T (p.Val1057=) c.930G>T (p.Val310=) c.1101G>T (p.Val367=) c.3216G>T (p.Val1072=) | |
2 | g.26474630C= | CA1239826503 | OTOF | c.3171G= (p.Val1057=) c.930G= (p.Val310=) c.1101G= (p.Val367=) c.3216G= (p.Val1072=) | |
2 | g.26474630C>G | CA425203820 | OTOF | c.3171G>C (p.Val1057=) c.930G>C (p.Val310=) c.1101G>C (p.Val367=) c.3216G>C (p.Val1072=) | |
2 | g.26474630C>T | CA425203821 | OTOF | c.3171G>A (p.Val1057=) c.930G>A (p.Val310=) c.1101G>A (p.Val367=) c.3216G>A (p.Val1072=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26474631A>C | CA346109311 | OTOF | c.3170T>G (p.Val1057Gly) c.929T>G (p.Val310Gly) c.1100T>G (p.Val367Gly) c.3215T>G (p.Val1072Gly) | |
2 | g.26474631A>G | CA346109316 | OTOF | c.3170T>C (p.Val1057Ala) c.929T>C (p.Val310Ala) c.1100T>C (p.Val367Ala) c.3215T>C (p.Val1072Ala) | gnomAD v4 |
2 | g.26474631A>T | CA346109313 | OTOF | c.3170T>A (p.Val1057Glu) c.929T>A (p.Val310Glu) c.1100T>A (p.Val367Glu) c.3215T>A (p.Val1072Glu) | |
2 | g.26474632C>A | CA346109318 | OTOF | c.3169G>T (p.Val1057Leu) c.928G>T (p.Val310Leu) c.1099G>T (p.Val367Leu) c.3214G>T (p.Val1072Leu) | |
2 | g.26474632C>G | CA346109320 | OTOF | c.3169G>C (p.Val1057Leu) c.928G>C (p.Val310Leu) c.1099G>C (p.Val367Leu) c.3214G>C (p.Val1072Leu) | |
2 | g.26474632C>T | CA346109323 | OTOF | c.3169G>A (p.Val1057Met) c.928G>A (p.Val310Met) c.1099G>A (p.Val367Met) c.3214G>A (p.Val1072Met) | |
2 | g.26474633C>A | CA425203824 | OTOF | c.3168G>T (p.Leu1056=) c.927G>T (p.Leu309=) c.1098G>T (p.Leu366=) c.3213G>T (p.Leu1071=) | |
2 | g.26474633C= | CA1239826504 | OTOF | c.3168G= (p.Leu1056=) c.927G= (p.Leu309=) c.1098G= (p.Leu366=) c.3213G= (p.Leu1071=) | |
2 | g.26474633C>G | CA425203825 | OTOF | c.3168G>C (p.Leu1056=) c.927G>C (p.Leu309=) c.1098G>C (p.Leu366=) c.3213G>C (p.Leu1071=) | gnomAD v4 |
2 | g.26474633C>T | CA425203827 | OTOF | c.3168G>A (p.Leu1056=) c.927G>A (p.Leu309=) c.1098G>A (p.Leu366=) c.3213G>A (p.Leu1071=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26474634A>C | CA346109329 | OTOF | c.3167T>G (p.Leu1056Arg) c.926T>G (p.Leu309Arg) c.1097T>G (p.Leu366Arg) c.3212T>G (p.Leu1071Arg) | |
2 | g.26474634A>G | CA346109333 | OTOF | c.3167T>C (p.Leu1056Pro) c.926T>C (p.Leu309Pro) c.1097T>C (p.Leu366Pro) c.3212T>C (p.Leu1071Pro) | |
2 | g.26474634A>T | CA346109334 | OTOF | c.3167T>A (p.Leu1056Gln) c.926T>A (p.Leu309Gln) c.1097T>A (p.Leu366Gln) c.3212T>A (p.Leu1071Gln) | gnomAD v4 |
2 | g.26474634_26474635delinsAG | CA1239826505 | OTOF | c.3166_3167delinsCT (p.Leu1056=) c.925_926delinsCT (p.Leu309=) c.1096_1097delinsCT (p.Leu366=) c.3211_3212delinsCT (p.Leu1071=) | |
2 | g.26474635G>A | CA425203833 | OTOF | c.3166C>T (p.Leu1056=) c.925C>T (p.Leu309=) c.1096C>T (p.Leu366=) c.3211C>T (p.Leu1071=) | gnomAD v4 |
2 | g.26474635G>C | CA346109335 | OTOF | c.3166C>G (p.Leu1056Val) c.925C>G (p.Leu309Val) c.1096C>G (p.Leu366Val) c.3211C>G (p.Leu1071Val) | |
2 | g.26474635G>T | CA346109336 | OTOF | c.3166C>A (p.Leu1056Met) c.925C>A (p.Leu309Met) c.1096C>A (p.Leu366Met) c.3211C>A (p.Leu1071Met) | |
2 | g.26474638del | CA1028610883 | OTOF | c.3166del (p.Leu1056TrpfsTer2) c.925del (p.Leu309TrpfsTer2) c.1096del (p.Leu366TrpfsTer2) c.3211del (p.Leu1071TrpfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26474636G>A | CA425203840 | OTOF | c.3165C>T (p.Pro1055=) c.924C>T (p.Pro308=) c.1095C>T (p.Pro365=) c.3210C>T (p.Pro1070=) | |
2 | g.26474636G>C | CA425203839 | OTOF | c.3165C>G (p.Pro1055=) c.924C>G (p.Pro308=) c.1095C>G (p.Pro365=) c.3210C>G (p.Pro1070=) | |
2 | g.26474636G>T | CA425203838 | OTOF | c.3165C>A (p.Pro1055=) c.924C>A (p.Pro308=) c.1095C>A (p.Pro365=) c.3210C>A (p.Pro1070=) | |
2 | g.26474637G>A | CA346109343 | OTOF | c.3164C>T (p.Pro1055Leu) c.923C>T (p.Pro308Leu) c.1094C>T (p.Pro365Leu) c.3209C>T (p.Pro1070Leu) | |
2 | g.26474637G>C | CA346109344 | OTOF | c.3164C>G (p.Pro1055Arg) c.923C>G (p.Pro308Arg) c.1094C>G (p.Pro365Arg) c.3209C>G (p.Pro1070Arg) | |
2 | g.26474637G>T | CA346109345 | OTOF | c.3164C>A (p.Pro1055His) c.923C>A (p.Pro308His) c.1094C>A (p.Pro365His) c.3209C>A (p.Pro1070His) | |
2 | g.26474638G>A | CA346109348 | OTOF | c.3163C>T (p.Pro1055Ser) c.922C>T (p.Pro308Ser) c.1093C>T (p.Pro365Ser) c.3208C>T (p.Pro1070Ser) | dbSNP gnomAD v4 |
2 | g.26474638G>C | CA346109353 | OTOF | c.3163C>G (p.Pro1055Ala) c.922C>G (p.Pro308Ala) c.1093C>G (p.Pro365Ala) c.3208C>G (p.Pro1070Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26474638G= | CA1239826506 | OTOF | c.3163C= (p.Pro1055=) c.922C= (p.Pro308=) c.1093C= (p.Pro365=) c.3208C= (p.Pro1070=) | |
2 | g.26474638G>T | CA44397361 | OTOF | c.3163C>A (p.Pro1055Thr) c.922C>A (p.Pro308Thr) c.1093C>A (p.Pro365Thr) c.3208C>A (p.Pro1070Thr) | dbSNP gnomAD v4 |
2 | g.26474639T>A | CA346109355 | OTOF | c.3162A>T (p.Lys1054Asn) c.921A>T (p.Lys307Asn) c.1092A>T (p.Lys364Asn) c.3207A>T (p.Lys1069Asn) | COSMIC COSMIC COSMIC |
2 | g.26474639T>C | CA425203843 | OTOF | c.3162A>G (p.Lys1054=) c.921A>G (p.Lys307=) c.1092A>G (p.Lys364=) c.3207A>G (p.Lys1069=) | |
2 | g.26474639T>G | CA346109356 | OTOF | c.3162A>C (p.Lys1054Asn) c.921A>C (p.Lys307Asn) c.1092A>C (p.Lys364Asn) c.3207A>C (p.Lys1069Asn) | |
2 | g.26474640T>A | CA346109365 | OTOF | c.3161A>T (p.Lys1054Ile) c.920A>T (p.Lys307Ile) c.1091A>T (p.Lys364Ile) c.3206A>T (p.Lys1069Ile) | |
2 | g.26474640T>C | CA346109368 | OTOF | c.3161A>G (p.Lys1054Arg) c.920A>G (p.Lys307Arg) c.1091A>G (p.Lys364Arg) c.3206A>G (p.Lys1069Arg) | gnomAD v4 |
2 | g.26474640T>G | CA346109371 | OTOF | c.3161A>C (p.Lys1054Thr) c.920A>C (p.Lys307Thr) c.1091A>C (p.Lys364Thr) c.3206A>C (p.Lys1069Thr) | COSMIC COSMIC COSMIC |
2 | g.26474641T>A | CA346109374 | OTOF | c.3160A>T (p.Lys1054Ter) c.919A>T (p.Lys307Ter) c.1090A>T (p.Lys364Ter) c.3205A>T (p.Lys1069Ter) | |
2 | g.26474641T>C | CA346109377 | OTOF | c.3160A>G (p.Lys1054Glu) c.919A>G (p.Lys307Glu) c.1090A>G (p.Lys364Glu) c.3205A>G (p.Lys1069Glu) | |
2 | g.26474641T>G | CA346109378 | OTOF | c.3160A>C (p.Lys1054Gln) c.919A>C (p.Lys307Gln) c.1090A>C (p.Lys364Gln) c.3205A>C (p.Lys1069Gln) | |
2 | g.26474642G>A | CA44397363 | OTOF | c.3159C>T (p.Ala1053=) c.918C>T (p.Ala306=) c.1089C>T (p.Ala363=) c.3204C>T (p.Ala1068=) | dbSNP |
2 | g.26474642G>C | CA425203860 | OTOF | c.3159C>G (p.Ala1053=) c.918C>G (p.Ala306=) c.1089C>G (p.Ala363=) c.3204C>G (p.Ala1068=) | |
2 | g.26474642G= | CA1239826508 | OTOF | c.3159C= (p.Ala1053=) c.918C= (p.Ala306=) c.1089C= (p.Ala363=) c.3204C= (p.Ala1068=) | |
2 | g.26474642G>T | CA425203857 | OTOF | c.3159C>A (p.Ala1053=) c.918C>A (p.Ala306=) c.1089C>A (p.Ala363=) c.3204C>A (p.Ala1068=) | |
2 | g.26474643del | CA2576699360 | OTOF | c.3159del (p.Lys1054AsnfsTer4) c.918del (p.Lys307AsnfsTer4) c.1089del (p.Lys364AsnfsTer4) c.3204del (p.Lys1069AsnfsTer4) | ClinVar |
2 | g.26474643G>A | CA346109379 | OTOF | c.3158C>T (p.Ala1053Val) c.917C>T (p.Ala306Val) c.1088C>T (p.Ala363Val) c.3203C>T (p.Ala1068Val) | |
2 | g.26474643G>C | CA346109380 | OTOF | c.3158C>G (p.Ala1053Gly) c.917C>G (p.Ala306Gly) c.1088C>G (p.Ala363Gly) c.3203C>G (p.Ala1068Gly) | |
2 | g.26474643G>T | CA346109382 | OTOF | c.3158C>A (p.Ala1053Asp) c.917C>A (p.Ala306Asp) c.1088C>A (p.Ala363Asp) c.3203C>A (p.Ala1068Asp) | |
2 | g.26474644C>A | CA346109385 | OTOF | c.3157G>T (p.Ala1053Ser) c.916G>T (p.Ala306Ser) c.1087G>T (p.Ala363Ser) c.3202G>T (p.Ala1068Ser) | |
2 | g.26474644C= | CA1239826510 | OTOF | c.3157G= (p.Ala1053=) c.916G= (p.Ala306=) c.1087G= (p.Ala363=) c.3202G= (p.Ala1068=) | |
2 | g.26474644C>G | CA346109388 | OTOF | c.3157G>C (p.Ala1053Pro) c.916G>C (p.Ala306Pro) c.1087G>C (p.Ala363Pro) c.3202G>C (p.Ala1068Pro) | |
2 | g.26474644C>T | CA1563639 | OTOF | c.3157G>A (p.Ala1053Thr) c.916G>A (p.Ala306Thr) c.1087G>A (p.Ala363Thr) c.3202G>A (p.Ala1068Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26474645G>A | CA142842 | OTOF | c.3156C>T (p.Phe1052=) c.915C>T (p.Phe305=) c.1086C>T (p.Phe362=) c.3201C>T (p.Phe1067=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26474645G>C | CA346109394 | OTOF | c.3156C>G (p.Phe1052Leu) c.915C>G (p.Phe305Leu) c.1086C>G (p.Phe362Leu) c.3201C>G (p.Phe1067Leu) | |
2 | g.26474645G= | CA1239826512 | OTOF | c.3156C= (p.Phe1052=) c.915C= (p.Phe305=) c.1086C= (p.Phe362=) c.3201C= (p.Phe1067=) | |
2 | g.26474645G>T | CA346109390 | OTOF | c.3156C>A (p.Phe1052Leu) c.915C>A (p.Phe305Leu) c.1086C>A (p.Phe362Leu) c.3201C>A (p.Phe1067Leu) | |
2 | g.26474646A>C | CA346109399 | OTOF | c.3155T>G (p.Phe1052Cys) c.914T>G (p.Phe305Cys) c.1085T>G (p.Phe362Cys) c.3200T>G (p.Phe1067Cys) | gnomAD v4 |
2 | g.26474646A>G | CA346109400 | OTOF | c.3155T>C (p.Phe1052Ser) c.914T>C (p.Phe305Ser) c.1085T>C (p.Phe362Ser) c.3200T>C (p.Phe1067Ser) | |
2 | g.26474646A>T | CA346109401 | OTOF | c.3155T>A (p.Phe1052Tyr) c.914T>A (p.Phe305Tyr) c.1085T>A (p.Phe362Tyr) c.3200T>A (p.Phe1067Tyr) | |
2 | g.26474647A>C | CA346109403 | OTOF | c.3154T>G (p.Phe1052Val) c.913T>G (p.Phe305Val) c.1084T>G (p.Phe362Val) c.3199T>G (p.Phe1067Val) | |
2 | g.26474647A>G | CA346109406 | OTOF | c.3154T>C (p.Phe1052Leu) c.913T>C (p.Phe305Leu) c.1084T>C (p.Phe362Leu) c.3199T>C (p.Phe1067Leu) | |
2 | g.26474647A>T | CA346109408 | OTOF | c.3154T>A (p.Phe1052Ile) c.913T>A (p.Phe305Ile) c.1084T>A (p.Phe362Ile) c.3199T>A (p.Phe1067Ile) | gnomAD v4 |
2 | g.26474648G>A | CA425203869 | OTOF | c.3153C>T (p.Thr1051=) c.912C>T (p.Thr304=) c.1083C>T (p.Thr361=) c.3198C>T (p.Thr1066=) | |
2 | g.26474648G>C | CA425203870 | OTOF | c.3153C>G (p.Thr1051=) c.912C>G (p.Thr304=) c.1083C>G (p.Thr361=) c.3198C>G (p.Thr1066=) | gnomAD v4 |
2 | g.26474648G>T | CA425203871 | OTOF | c.3153C>A (p.Thr1051=) c.912C>A (p.Thr304=) c.1083C>A (p.Thr361=) c.3198C>A (p.Thr1066=) | gnomAD v4 |
2 | g.26474649G>A | CA346109412 | OTOF | c.3152C>T (p.Thr1051Ile) c.911C>T (p.Thr304Ile) c.1082C>T (p.Thr361Ile) c.3197C>T (p.Thr1066Ile) | |
2 | g.26474649G>C | CA346109415 | OTOF | c.3152C>G (p.Thr1051Ser) c.911C>G (p.Thr304Ser) c.1082C>G (p.Thr361Ser) c.3197C>G (p.Thr1066Ser) | |
2 | g.26474649G= | CA1239826515 | OTOF | c.3152C= (p.Thr1051=) c.911C= (p.Thr304=) c.1082C= (p.Thr361=) c.3197C= (p.Thr1066=) | |
2 | g.26474649G>T | CA346109419 | OTOF | c.3152C>A (p.Thr1051Asn) c.911C>A (p.Thr304Asn) c.1082C>A (p.Thr361Asn) c.3197C>A (p.Thr1066Asn) | dbSNP gnomAD v4 |
2 | g.26474650T>A | CA346109420 | OTOF | c.3151A>T (p.Thr1051Ser) c.910A>T (p.Thr304Ser) c.1081A>T (p.Thr361Ser) c.3196A>T (p.Thr1066Ser) | |
2 | g.26474650T>C | CA346109421 | OTOF | c.3151A>G (p.Thr1051Ala) c.910A>G (p.Thr304Ala) c.1081A>G (p.Thr361Ala) c.3196A>G (p.Thr1066Ala) | gnomAD v4 |
2 | g.26474650T>G | CA346109424 | OTOF | c.3151A>C (p.Thr1051Pro) c.910A>C (p.Thr304Pro) c.1081A>C (p.Thr361Pro) c.3196A>C (p.Thr1066Pro) | |
2 | g.26474651C>A | CA425203875 | OTOF | c.3150G>T (p.Arg1050=) c.909G>T (p.Arg303=) c.1080G>T (p.Arg360=) c.3195G>T (p.Arg1065=) | ClinVar dbSNP gnomAD v4 |
2 | g.26474651C= | CA1239826517 | OTOF | c.3150G= (p.Arg1050=) c.909G= (p.Arg303=) c.1080G= (p.Arg360=) c.3195G= (p.Arg1065=) | |
2 | g.26474651C>G | CA425203876 | OTOF | c.3150G>C (p.Arg1050=) c.909G>C (p.Arg303=) c.1080G>C (p.Arg360=) c.3195G>C (p.Arg1065=) | |
2 | g.26474651C>T | CA425203877 | OTOF | c.3150G>A (p.Arg1050=) c.909G>A (p.Arg303=) c.1080G>A (p.Arg360=) c.3195G>A (p.Arg1065=) | COSMIC COSMIC COSMIC |
2 | g.26474652C>A | CA346109432 | OTOF | c.3149G>T (p.Arg1050Leu) c.908G>T (p.Arg303Leu) c.1079G>T (p.Arg360Leu) c.3194G>T (p.Arg1065Leu) | gnomAD v4 |
2 | g.26474652C= | CA1239826518 | OTOF | c.3149G= (p.Arg1050=) c.908G= (p.Arg303=) c.1079G= (p.Arg360=) c.3194G= (p.Arg1065=) | |
2 | g.26474652C>G | CA346109428 | OTOF | c.3149G>C (p.Arg1050Pro) c.908G>C (p.Arg303Pro) c.1079G>C (p.Arg360Pro) c.3194G>C (p.Arg1065Pro) | |
2 | g.26474652C>T | CA1563640 | OTOF | c.3149G>A (p.Arg1050Gln) c.908G>A (p.Arg303Gln) c.1079G>A (p.Arg360Gln) c.3194G>A (p.Arg1065Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.26474653G>A | CA44397370 | OTOF | c.3148C>T (p.Arg1050Trp) c.907C>T (p.Arg303Trp) c.1078C>T (p.Arg360Trp) c.3193C>T (p.Arg1065Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26474653G>C | CA346109437 | OTOF | c.3148C>G (p.Arg1050Gly) c.907C>G (p.Arg303Gly) c.1078C>G (p.Arg360Gly) c.3193C>G (p.Arg1065Gly) | |
2 | g.26474653G= | CA1239826520 | OTOF | c.3148C= (p.Arg1050=) c.907C= (p.Arg303=) c.1078C= (p.Arg360=) c.3193C= (p.Arg1065=) | |
2 | g.26474653G>T | CA425203880 | OTOF | c.3148C>A (p.Arg1050=) c.907C>A (p.Arg303=) c.1078C>A (p.Arg360=) c.3193C>A (p.Arg1065=) | |
2 | g.26474654G>A | CA425203881 | OTOF | c.3147C>T (p.Gly1049=) c.906C>T (p.Gly302=) c.1077C>T (p.Gly359=) c.3192C>T (p.Gly1064=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26474654G>C | CA425203882 | OTOF | c.3147C>G (p.Gly1049=) c.906C>G (p.Gly302=) c.1077C>G (p.Gly359=) c.3192C>G (p.Gly1064=) | |
2 | g.26474654G= | CA1239826522 | OTOF | c.3147C= (p.Gly1049=) c.906C= (p.Gly302=) c.1077C= (p.Gly359=) c.3192C= (p.Gly1064=) | |
2 | g.26474654G>T | CA425203884 | OTOF | c.3147C>A (p.Gly1049=) c.906C>A (p.Gly302=) c.1077C>A (p.Gly359=) c.3192C>A (p.Gly1064=) | |
2 | g.26474655C>A | CA346109441 | OTOF | c.3146G>T (p.Gly1049Val) c.905G>T (p.Gly302Val) c.1076G>T (p.Gly359Val) c.3191G>T (p.Gly1064Val) | |
2 | g.26474655C= | CA1239826524 | OTOF | c.3146G= (p.Gly1049=) c.905G= (p.Gly302=) c.1076G= (p.Gly359=) c.3191G= (p.Gly1064=) | |
2 | g.26474655C>G | CA346109444 | OTOF | c.3146G>C (p.Gly1049Ala) c.905G>C (p.Gly302Ala) c.1076G>C (p.Gly359Ala) c.3191G>C (p.Gly1064Ala) | |
2 | g.26474655C>T | CA346109447 | OTOF | c.3146G>A (p.Gly1049Asp) c.905G>A (p.Gly302Asp) c.1076G>A (p.Gly359Asp) c.3191G>A (p.Gly1064Asp) | dbSNP gnomAD v4 |
2 | g.26474656C>A | CA346109456 | OTOF | c.3145G>T (p.Gly1049Cys) c.904G>T (p.Gly302Cys) c.1075G>T (p.Gly359Cys) c.3190G>T (p.Gly1064Cys) | |
2 | g.26474656C>G | CA346109453 | OTOF | c.3145G>C (p.Gly1049Arg) c.904G>C (p.Gly302Arg) c.1075G>C (p.Gly359Arg) c.3190G>C (p.Gly1064Arg) | gnomAD v4 |
2 | g.26474656C>T | CA346109451 | OTOF | c.3145G>A (p.Gly1049Ser) c.904G>A (p.Gly302Ser) c.1075G>A (p.Gly359Ser) c.3190G>A (p.Gly1064Ser) | COSMIC COSMIC COSMIC |
2 | g.26474657C>A | CA346109461 | OTOF | c.3144G>T (p.Met1048Ile) c.903G>T (p.Met301Ile) c.1074G>T (p.Met358Ile) c.3189G>T (p.Met1063Ile) | |
2 | g.26474657C>G | CA346109464 | OTOF | c.3144G>C (p.Met1048Ile) c.903G>C (p.Met301Ile) c.1074G>C (p.Met358Ile) c.3189G>C (p.Met1063Ile) | |
2 | g.26474657C>T | CA346109467 | OTOF | c.3144G>A (p.Met1048Ile) c.903G>A (p.Met301Ile) c.1074G>A (p.Met358Ile) c.3189G>A (p.Met1063Ile) | |
2 | g.26474658A= | CA1239826525 | OTOF | c.3143T= (p.Met1048=) c.902T= (p.Met301=) c.1073T= (p.Met358=) c.3188T= (p.Met1063=) | |
2 | g.26474658A>C | CA346109470 | OTOF | c.3143T>G (p.Met1048Arg) c.902T>G (p.Met301Arg) c.1073T>G (p.Met358Arg) c.3188T>G (p.Met1063Arg) | |
2 | g.26474658A>G | CA346109471 | OTOF | c.3143T>C (p.Met1048Thr) c.902T>C (p.Met301Thr) c.1073T>C (p.Met358Thr) c.3188T>C (p.Met1063Thr) | dbSNP |
2 | g.26474658A>T | CA346109472 | OTOF | c.3143T>A (p.Met1048Lys) c.902T>A (p.Met301Lys) c.1073T>A (p.Met358Lys) c.3188T>A (p.Met1063Lys) | |
2 | g.26474659T>A | CA346109475 | OTOF | c.3142A>T (p.Met1048Leu) c.901A>T (p.Met301Leu) c.1072A>T (p.Met358Leu) c.3187A>T (p.Met1063Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26474659T>C | CA1563641 | OTOF | c.3142A>G (p.Met1048Val) c.901A>G (p.Met301Val) c.1072A>G (p.Met358Val) c.3187A>G (p.Met1063Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26474659T>G | CA346109481 | OTOF | c.3142A>C (p.Met1048Leu) c.901A>C (p.Met301Leu) c.1072A>C (p.Met358Leu) c.3187A>C (p.Met1063Leu) | |
2 | g.26474659T= | CA1239826527 | OTOF | c.3142A= (p.Met1048=) c.901A= (p.Met301=) c.1072A= (p.Met358=) c.3187A= (p.Met1063=) | |
2 | g.26474660G>A | CA425203893 | OTOF | c.3141C>T (p.Phe1047=) c.900C>T (p.Phe300=) c.1071C>T (p.Phe357=) c.3186C>T (p.Phe1062=) | dbSNP |
2 | g.26474660G>C | CA346109484 | OTOF | c.3141C>G (p.Phe1047Leu) c.900C>G (p.Phe300Leu) c.1071C>G (p.Phe357Leu) c.3186C>G (p.Phe1062Leu) | |
2 | g.26474660G= | CA1239826529 | OTOF | c.3141C= (p.Phe1047=) c.900C= (p.Phe300=) c.1071C= (p.Phe357=) c.3186C= (p.Phe1062=) | |
2 | g.26474660G>T | CA1563642 | OTOF | c.3141C>A (p.Phe1047Leu) c.900C>A (p.Phe300Leu) c.1071C>A (p.Phe357Leu) c.3186C>A (p.Phe1062Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26474661A>C | CA346109486 | OTOF | c.3140T>G (p.Phe1047Cys) c.899T>G (p.Phe300Cys) c.1070T>G (p.Phe357Cys) c.3185T>G (p.Phe1062Cys) | |
2 | g.26474661A>G | CA346109502 | OTOF | c.3140T>C (p.Phe1047Ser) c.899T>C (p.Phe300Ser) c.1070T>C (p.Phe357Ser) c.3185T>C (p.Phe1062Ser) | |
2 | g.26474661A>T | CA346109505 | OTOF | c.3140T>A (p.Phe1047Tyr) c.899T>A (p.Phe300Tyr) c.1070T>A (p.Phe357Tyr) c.3185T>A (p.Phe1062Tyr) | |
2 | g.26474662A>C | CA346109506 | OTOF | c.3139T>G (p.Phe1047Val) c.898T>G (p.Phe300Val) c.1069T>G (p.Phe357Val) c.3184T>G (p.Phe1062Val) | |
2 | g.26474662A>G | CA346109510 | OTOF | c.3139T>C (p.Phe1047Leu) c.898T>C (p.Phe300Leu) c.1069T>C (p.Phe357Leu) c.3184T>C (p.Phe1062Leu) | |
2 | g.26474662A>T | CA346109513 | OTOF | c.3139T>A (p.Phe1047Ile) c.898T>A (p.Phe300Ile) c.1069T>A (p.Phe357Ile) c.3184T>A (p.Phe1062Ile) | |
2 | g.26474663G>A | CA425203898 | OTOF | c.3138C>T (p.Asp1046=) c.897C>T (p.Asp299=) c.1068C>T (p.Asp356=) c.3183C>T (p.Asp1061=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26474663G>C | CA346109514 | OTOF | c.3138C>G (p.Asp1046Glu) c.897C>G (p.Asp299Glu) c.1068C>G (p.Asp356Glu) c.3183C>G (p.Asp1061Glu) | |
2 | g.26474663G= | CA1239826531 | OTOF | c.3138C= (p.Asp1046=) c.897C= (p.Asp299=) c.1068C= (p.Asp356=) c.3183C= (p.Asp1061=) | |
2 | g.26474663G>T | CA346109515 | OTOF | c.3138C>A (p.Asp1046Glu) c.897C>A (p.Asp299Glu) c.1068C>A (p.Asp356Glu) c.3183C>A (p.Asp1061Glu) | gnomAD v4 |
2 | g.26474664T>A | CA346109516 | OTOF | c.3137A>T (p.Asp1046Val) c.896A>T (p.Asp299Val) c.1067A>T (p.Asp356Val) c.3182A>T (p.Asp1061Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26474664T>C | CA346109521 | OTOF | c.3137A>G (p.Asp1046Gly) c.896A>G (p.Asp299Gly) c.1067A>G (p.Asp356Gly) c.3182A>G (p.Asp1061Gly) | |
2 | g.26474664T>G | CA346109518 | OTOF | c.3137A>C (p.Asp1046Ala) c.896A>C (p.Asp299Ala) c.1067A>C (p.Asp356Ala) c.3182A>C (p.Asp1061Ala) | |
2 | g.26474664T= | CA1239826533 | OTOF | c.3137A= (p.Asp1046=) c.896A= (p.Asp299=) c.1067A= (p.Asp356=) c.3182A= (p.Asp1061=) | |
2 | g.26474665C>A | CA346109526 | OTOF | c.3136G>T (p.Asp1046Tyr) c.895G>T (p.Asp299Tyr) c.1066G>T (p.Asp356Tyr) c.3181G>T (p.Asp1061Tyr) | gnomAD v4 |
2 | g.26474665C= | CA1239826534 | OTOF | c.3136G= (p.Asp1046=) c.895G= (p.Asp299=) c.1066G= (p.Asp356=) c.3181G= (p.Asp1061=) | |
2 | g.26474665C>G | CA346109534 | OTOF | c.3136G>C (p.Asp1046His) c.895G>C (p.Asp299His) c.1066G>C (p.Asp356His) c.3181G>C (p.Asp1061His) | |
2 | g.26474665C>T | CA44397375 | OTOF | c.3136G>A (p.Asp1046Asn) c.895G>A (p.Asp299Asn) c.1066G>A (p.Asp356Asn) c.3181G>A (p.Asp1061Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26474666A>C | CA425203901 | OTOF | c.3135T>G (p.Ala1045=) c.894T>G (p.Ala298=) c.1065T>G (p.Ala355=) c.3180T>G (p.Ala1060=) | |
2 | g.26474666A>G | CA425203903 | OTOF | c.3135T>C (p.Ala1045=) c.894T>C (p.Ala298=) c.1065T>C (p.Ala355=) c.3180T>C (p.Ala1060=) | |
2 | g.26474666A>T | CA425203904 | OTOF | c.3135T>A (p.Ala1045=) c.894T>A (p.Ala298=) c.1065T>A (p.Ala355=) c.3180T>A (p.Ala1060=) | |
2 | g.26474667G>A | CA346109535 | OTOF | c.3134C>T (p.Ala1045Val) c.893C>T (p.Ala298Val) c.1064C>T (p.Ala355Val) c.3179C>T (p.Ala1060Val) | gnomAD v4 |
2 | g.26474667G>C | CA346109539 | OTOF | c.3134C>G (p.Ala1045Gly) c.893C>G (p.Ala298Gly) c.1064C>G (p.Ala355Gly) c.3179C>G (p.Ala1060Gly) | |
2 | g.26474667G>T | CA346109537 | OTOF | c.3134C>A (p.Ala1045Asp) c.893C>A (p.Ala298Asp) c.1064C>A (p.Ala355Asp) c.3179C>A (p.Ala1060Asp) | gnomAD v4 |
2 | g.26474668C>A | CA346109546 | OTOF | c.3133G>T (p.Ala1045Ser) c.892G>T (p.Ala298Ser) c.1063G>T (p.Ala355Ser) c.3178G>T (p.Ala1060Ser) | |
2 | g.26474668C>G | CA346109550 | OTOF | c.3133G>C (p.Ala1045Pro) c.892G>C (p.Ala298Pro) c.1063G>C (p.Ala355Pro) c.3178G>C (p.Ala1060Pro) | |
2 | g.26474668C>T | CA346109547 | OTOF | c.3133G>A (p.Ala1045Thr) c.892G>A (p.Ala298Thr) c.1063G>A (p.Ala355Thr) c.3178G>A (p.Ala1060Thr) | |
2 | g.26474669T>A | CA346109553 | OTOF | c.3132A>T (p.Lys1044Asn) c.891A>T (p.Lys297Asn) c.1062A>T (p.Lys354Asn) c.3177A>T (p.Lys1059Asn) | |
2 | g.26474669T>C | CA425203908 | OTOF | c.3132A>G (p.Lys1044=) c.891A>G (p.Lys297=) c.1062A>G (p.Lys354=) c.3177A>G (p.Lys1059=) | ClinVar gnomAD v4 |
2 | g.26474669T>G | CA346109555 | OTOF | c.3132A>C (p.Lys1044Asn) c.891A>C (p.Lys297Asn) c.1062A>C (p.Lys354Asn) c.3177A>C (p.Lys1059Asn) | |
2 | g.26474670T>A | CA346109558 | OTOF | c.3131A>T (p.Lys1044Ile) c.890A>T (p.Lys297Ile) c.1061A>T (p.Lys354Ile) c.3176A>T (p.Lys1059Ile) | |
2 | g.26474670T>C | CA346109561 | OTOF | c.3131A>G (p.Lys1044Arg) c.890A>G (p.Lys297Arg) c.1061A>G (p.Lys354Arg) c.3176A>G (p.Lys1059Arg) | |
2 | g.26474670T>G | CA346109560 | OTOF | c.3131A>C (p.Lys1044Thr) c.890A>C (p.Lys297Thr) c.1061A>C (p.Lys354Thr) c.3176A>C (p.Lys1059Thr) | |
2 | g.26474671T>A | CA346109564 | OTOF | c.3130A>T (p.Lys1044Ter) c.889A>T (p.Lys297Ter) c.1060A>T (p.Lys354Ter) c.3175A>T (p.Lys1059Ter) | |
2 | g.26474671T>C | CA346109565 | OTOF | c.3130A>G (p.Lys1044Glu) c.889A>G (p.Lys297Glu) c.1060A>G (p.Lys354Glu) c.3175A>G (p.Lys1059Glu) | |
2 | g.26474671T>G | CA346109567 | OTOF | c.3130A>C (p.Lys1044Gln) c.889A>C (p.Lys297Gln) c.1060A>C (p.Lys354Gln) c.3175A>C (p.Lys1059Gln) | |
2 | g.26474672G>A | CA425203909 | OTOF | c.3129C>T (p.Gly1043=) c.888C>T (p.Gly296=) c.1059C>T (p.Gly353=) c.3174C>T (p.Gly1058=) | |
2 | g.26474672G>C | CA425203910 | OTOF | c.3129C>G (p.Gly1043=) c.888C>G (p.Gly296=) c.1059C>G (p.Gly353=) c.3174C>G (p.Gly1058=) | |
2 | g.26474672G>T | CA425203911 | OTOF | c.3129C>A (p.Gly1043=) c.888C>A (p.Gly296=) c.1059C>A (p.Gly353=) c.3174C>A (p.Gly1058=) | ClinVar gnomAD v4 |
2 | g.26474673C>A | CA346109570 | OTOF | c.3128G>T (p.Gly1043Val) c.887G>T (p.Gly296Val) c.1058G>T (p.Gly353Val) c.3173G>T (p.Gly1058Val) | gnomAD v4 |
2 | g.26474673C= | CA1239826536 | OTOF | c.3128G= (p.Gly1043=) c.887G= (p.Gly296=) c.1058G= (p.Gly353=) c.3173G= (p.Gly1058=) | |
2 | g.26474673C>G | CA346109572 | OTOF | c.3128G>C (p.Gly1043Ala) c.887G>C (p.Gly296Ala) c.1058G>C (p.Gly353Ala) c.3173G>C (p.Gly1058Ala) | |
2 | g.26474673C>T | CA346109575 | OTOF | c.3128G>A (p.Gly1043Asp) c.887G>A (p.Gly296Asp) c.1058G>A (p.Gly353Asp) c.3173G>A (p.Gly1058Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26474674C>A | CA346109578 | OTOF | c.3127G>T (p.Gly1043Cys) c.886G>T (p.Gly296Cys) c.1057G>T (p.Gly353Cys) c.3172G>T (p.Gly1058Cys) | |
2 | g.26474674C>G | CA346109580 | OTOF | c.3127G>C (p.Gly1043Arg) c.886G>C (p.Gly296Arg) c.1057G>C (p.Gly353Arg) c.3172G>C (p.Gly1058Arg) | |
2 | g.26474674C>T | CA346109581 | OTOF | c.3127G>A (p.Gly1043Ser) c.886G>A (p.Gly296Ser) c.1057G>A (p.Gly353Ser) c.3172G>A (p.Gly1058Ser) | gnomAD v4 |
2 | g.26474675C>A | CA346109583 | OTOF | c.3127-1G>T (n.3127-1G>T) c.886-1G>T (n.886-1G>T) c.1057-1G>T (n.1057-1G>T) c.3172-1G>T (n.3172-1G>T) | |
2 | g.26474675C>G | CA346109585 | OTOF | c.3127-1G>C (n.3127-1G>C) c.886-1G>C (n.886-1G>C) c.1057-1G>C (n.1057-1G>C) c.3172-1G>C (n.3172-1G>C) | |
2 | g.26474675C>T | CA346109587 | OTOF | c.3127-1G>A (n.3127-1G>A) c.886-1G>A (n.886-1G>A) c.1057-1G>A (n.1057-1G>A) c.3172-1G>A (n.3172-1G>A) | gnomAD v4 |
2 | g.26474676T>A | CA346109591 | OTOF | c.3127-2A>T (n.3127-2A>T) c.886-2A>T (n.886-2A>T) c.1057-2A>T (n.1057-2A>T) c.3172-2A>T (n.3172-2A>T) | |
2 | g.26474676T>C | CA346109595 | OTOF | c.3127-2A>G (n.3127-2A>G) c.886-2A>G (n.886-2A>G) c.1057-2A>G (n.1057-2A>G) c.3172-2A>G (n.3172-2A>G) | |
2 | g.26474676T>G | CA346109593 | OTOF | c.3127-2A>C (n.3127-2A>C) c.886-2A>C (n.886-2A>C) c.1057-2A>C (n.1057-2A>C) c.3172-2A>C (n.3172-2A>C) | |
2 | g.26474679C>A | CA425203914 | OTOF | c.3127-5G>T (n.3127-5G>T) c.886-5G>T (n.886-5G>T) c.1057-5G>T (n.1057-5G>T) c.3172-5G>T (n.3172-5G>T) | |
2 | g.26474679C= | CA1239826538 | OTOF | c.3127-5G= (n.3127-5G=) c.886-5G= (n.886-5G=) c.1057-5G= (n.1057-5G=) c.3172-5G= (n.3172-5G=) | |
2 | g.26474679C>G | CA531761960 | OTOF | c.3127-5G>C (n.3127-5G>C) c.886-5G>C (n.886-5G>C) c.1057-5G>C (n.1057-5G>C) c.3172-5G>C (n.3172-5G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26474679C>T | CA1563643 | OTOF | c.3127-5G>A (n.3127-5G>A) c.886-5G>A (n.886-5G>A) c.1057-5G>A (n.1057-5G>A) c.3172-5G>A (n.3172-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26474680G>A | CA1563645 | OTOF | c.3127-6C>T (n.3127-6C>T) c.886-6C>T (n.886-6C>T) c.1057-6C>T (n.1057-6C>T) c.3172-6C>T (n.3172-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26474680G= | CA1239826540 | OTOF | c.3127-6C= (n.3127-6C=) c.886-6C= (n.886-6C=) c.1057-6C= (n.1057-6C=) c.3172-6C= (n.3172-6C=) | |
2 | g.26474680G>T | CA1563644 | OTOF | c.3127-6C>A (n.3127-6C>A) c.886-6C>A (n.886-6C>A) c.1057-6C>A (n.1057-6C>A) c.3172-6C>A (n.3172-6C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26474682A= | CA1239826542 | OTOF | c.3127-8T= (n.3127-8T=) c.886-8T= (n.886-8T=) c.1057-8T= (n.1057-8T=) c.3172-8T= (n.3172-8T=) | |
2 | g.26474682A>T | CA1239826541 | OTOF | c.3127-8T>A (n.3127-8T>A) c.886-8T>A (n.886-8T>A) c.1057-8T>A (n.1057-8T>A) c.3172-8T>A (n.3172-8T>A) | dbSNP |
2 | g.26474683A= | CA1239826543 | OTOF | c.3127-9T= (n.3127-9T=) c.886-9T= (n.886-9T=) c.1057-9T= (n.1057-9T=) c.3172-9T= (n.3172-9T=) | |
2 | g.26474683A>C | CA2749240728 | OTOF | c.3127-9T>G (n.3127-9T>G) c.886-9T>G (n.886-9T>G) c.1057-9T>G (n.1057-9T>G) c.3172-9T>G (n.3172-9T>G) | |
2 | g.26474683A>G | CA531761963 | OTOF | c.3127-9T>C (n.3127-9T>C) c.886-9T>C (n.886-9T>C) c.1057-9T>C (n.1057-9T>C) c.3172-9T>C (n.3172-9T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26474684C>A | CA767276525 | OTOF | c.3127-10G>T (n.3127-10G>T) c.886-10G>T (n.886-10G>T) c.1057-10G>T (n.1057-10G>T) c.3172-10G>T (n.3172-10G>T) | dbSNP |
2 | g.26474684C= | CA1239826545 | OTOF | c.3127-10G= (n.3127-10G=) c.886-10G= (n.886-10G=) c.1057-10G= (n.1057-10G=) c.3172-10G= (n.3172-10G=) | |
2 | g.26474684C>G | CA2739274220 | OTOF | c.3127-10G>C (n.3127-10G>C) c.886-10G>C (n.886-10G>C) c.1057-10G>C (n.1057-10G>C) c.3172-10G>C (n.3172-10G>C) | ClinVar |
2 | g.26474686G>A | CA2658236642 | OTOF | c.3127-12C>T (n.3127-12C>T) c.886-12C>T (n.886-12C>T) c.1057-12C>T (n.1057-12C>T) c.3172-12C>T (n.3172-12C>T) | gnomAD v4 |
2 | g.26474687A>G | CA2576699361 | OTOF | c.3127-13T>C (n.3127-13T>C) c.886-13T>C (n.886-13T>C) c.1057-13T>C (n.1057-13T>C) c.3172-13T>C (n.3172-13T>C) | |
2 | g.26474688C>A | CA1563646 | OTOF | c.3127-14G>T (n.3127-14G>T) c.886-14G>T (n.886-14G>T) c.1057-14G>T (n.1057-14G>T) c.3172-14G>T (n.3172-14G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26474688C= | CA1239826547 | OTOF | c.3127-14G= (n.3127-14G=) c.886-14G= (n.886-14G=) c.1057-14G= (n.1057-14G=) c.3172-14G= (n.3172-14G=) | |
2 | g.26474688C>T | CA2658236643 | OTOF | c.3127-14G>A (n.3127-14G>A) c.886-14G>A (n.886-14G>A) c.1057-14G>A (n.1057-14G>A) c.3172-14G>A (n.3172-14G>A) | gnomAD v4 |
2 | g.26474691C>T | CA2658236644 | OTOF | c.3127-17G>A (n.3127-17G>A) c.886-17G>A (n.886-17G>A) c.1057-17G>A (n.1057-17G>A) c.3172-17G>A (n.3172-17G>A) | gnomAD v4 |
2 | g.26474692C>T | CA2658236645 | OTOF | c.3127-18G>A (n.3127-18G>A) c.886-18G>A (n.886-18G>A) c.1057-18G>A (n.1057-18G>A) c.3172-18G>A (n.3172-18G>A) | gnomAD v4 |
2 | g.26474693C>A | CA2658236646 | OTOF | c.3127-19G>T (n.3127-19G>T) c.886-19G>T (n.886-19G>T) c.1057-19G>T (n.1057-19G>T) c.3172-19G>T (n.3172-19G>T) | gnomAD v4 |
2 | g.26474694A>G | CA2658236647 | OTOF | c.3127-20T>C (n.3127-20T>C) c.886-20T>C (n.886-20T>C) c.1057-20T>C (n.1057-20T>C) c.3172-20T>C (n.3172-20T>C) | gnomAD v4 |
2 | g.26474695G>A | CA1563647 | OTOF | c.3127-21C>T (n.3127-21C>T) c.886-21C>T (n.886-21C>T) c.1057-21C>T (n.1057-21C>T) c.3172-21C>T (n.3172-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26474695G= | CA1239826549 | OTOF | c.3127-21C= (n.3127-21C=) c.886-21C= (n.886-21C=) c.1057-21C= (n.1057-21C=) c.3172-21C= (n.3172-21C=) | |
2 | g.26474699C= | CA1239826551 | OTOF | c.3127-25G= (n.3127-25G=) c.886-25G= (n.886-25G=) c.1057-25G= (n.1057-25G=) c.3172-25G= (n.3172-25G=) | |
2 | g.26474699C>T | CA1028610918 | OTOF | c.3127-25G>A (n.3127-25G>A) c.886-25G>A (n.886-25G>A) c.1057-25G>A (n.1057-25G>A) c.3172-25G>A (n.3172-25G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26474700C= | CA1239826552 | OTOF | c.3127-26G= (n.3127-26G=) c.886-26G= (n.886-26G=) c.1057-26G= (n.1057-26G=) c.3172-26G= (n.3172-26G=) | |
2 | g.26474700C>G | CA1563649 | OTOF | c.3127-26G>C (n.3127-26G>C) c.886-26G>C (n.886-26G>C) c.1057-26G>C (n.1057-26G>C) c.3172-26G>C (n.3172-26G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26474700C>T | CA2576699362 | OTOF | c.3127-26G>A (n.3127-26G>A) c.886-26G>A (n.886-26G>A) c.1057-26G>A (n.1057-26G>A) c.3172-26G>A (n.3172-26G>A) | |
2 | g.26474701T>C | CA2576699363 | OTOF | c.3127-27A>G (n.3127-27A>G) c.886-27A>G (n.886-27A>G) c.1057-27A>G (n.1057-27A>G) c.3172-27A>G (n.3172-27A>G) | |
2 | g.26474701dup | CA1563648 | OTOF | c.3127-27dup (n.3127-27dup) c.886-27dup (n.886-27dup) c.1057-27dup (n.1057-27dup) c.3172-27dup (n.3172-27dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26474702C= | CA1239826553 | OTOF | c.3127-28G= (n.3127-28G=) c.886-28G= (n.886-28G=) c.1057-28G= (n.1057-28G=) c.3172-28G= (n.3172-28G=) | |
2 | g.26474702C>T | CA1563650 | OTOF | c.3127-28G>A (n.3127-28G>A) c.886-28G>A (n.886-28G>A) c.1057-28G>A (n.1057-28G>A) c.3172-28G>A (n.3172-28G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26474704T>C | CA2658236648 | OTOF | c.3127-30A>G (n.3127-30A>G) c.886-30A>G (n.886-30A>G) c.1057-30A>G (n.1057-30A>G) c.3172-30A>G (n.3172-30A>G) | gnomAD v4 |
2 | g.26474705G>T | CA2658236649 | OTOF | c.3127-31C>A (n.3127-31C>A) c.886-31C>A (n.886-31C>A) c.1057-31C>A (n.1057-31C>A) c.3172-31C>A (n.3172-31C>A) | gnomAD v4 |
2 | g.26474707T>A | CA2658236650 | OTOF | c.3127-33A>T (n.3127-33A>T) c.886-33A>T (n.886-33A>T) c.1057-33A>T (n.1057-33A>T) c.3172-33A>T (n.3172-33A>T) | gnomAD v4 |
2 | g.26474709C>T | CA2658236651 | OTOF | c.3127-35G>A (n.3127-35G>A) c.886-35G>A (n.886-35G>A) c.1057-35G>A (n.1057-35G>A) c.3172-35G>A (n.3172-35G>A) | gnomAD v4 |
2 | g.26474710T>C | CA2658236652 | OTOF | c.3127-36A>G (n.3127-36A>G) c.886-36A>G (n.886-36A>G) c.1057-36A>G (n.1057-36A>G) c.3172-36A>G (n.3172-36A>G) | gnomAD v4 |
2 | g.26474711T>G | CA2658236653 | OTOF | c.3127-37A>C (n.3127-37A>C) c.886-37A>C (n.886-37A>C) c.1057-37A>C (n.1057-37A>C) c.3172-37A>C (n.3172-37A>C) | gnomAD v4 |
2 | g.26474712del | CA2576699364 | OTOF | c.3127-38del (n.3127-38del) c.886-38del (n.886-38del) c.1057-38del (n.1057-38del) c.3172-38del (n.3172-38del) | |
2 | g.26474712G>A | CA531761969 | OTOF | c.3127-38C>T (n.3127-38C>T) c.886-38C>T (n.886-38C>T) c.1057-38C>T (n.1057-38C>T) c.3172-38C>T (n.3172-38C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26474712G= | CA1239826556 | OTOF | c.3127-38C= (n.3127-38C=) c.886-38C= (n.886-38C=) c.1057-38C= (n.1057-38C=) c.3172-38C= (n.3172-38C=) | |
2 | g.26474713C>A | CA2658236655 | OTOF | c.3127-39G>T (n.3127-39G>T) c.886-39G>T (n.886-39G>T) c.1057-39G>T (n.1057-39G>T) c.3172-39G>T (n.3172-39G>T) | gnomAD v4 |
2 | g.26474713C>T | CA2658236654 | OTOF | c.3127-39G>A (n.3127-39G>A) c.886-39G>A (n.886-39G>A) c.1057-39G>A (n.1057-39G>A) c.3172-39G>A (n.3172-39G>A) | gnomAD v4 |
2 | g.26474714T>C | CA1563651 | OTOF | c.3127-40A>G (n.3127-40A>G) c.886-40A>G (n.886-40A>G) c.1057-40A>G (n.1057-40A>G) c.3172-40A>G (n.3172-40A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26474714T= | CA1239826557 | OTOF | c.3127-40A= (n.3127-40A=) c.886-40A= (n.886-40A=) c.1057-40A= (n.1057-40A=) c.3172-40A= (n.3172-40A=) | |
2 | g.26474715G>A | CA2749240729 | OTOF | c.3127-41C>T (n.3127-41C>T) c.886-41C>T (n.886-41C>T) c.1057-41C>T (n.1057-41C>T) c.3172-41C>T (n.3172-41C>T) | |
2 | g.26474715G>T | CA2658236656 | OTOF | c.3127-41C>A (n.3127-41C>A) c.886-41C>A (n.886-41C>A) c.1057-41C>A (n.1057-41C>A) c.3172-41C>A (n.3172-41C>A) | gnomAD v4 |
2 | g.26474717C>T | CA2658236657 | OTOF | c.3127-43G>A (n.3127-43G>A) c.886-43G>A (n.886-43G>A) c.1057-43G>A (n.1057-43G>A) c.3172-43G>A (n.3172-43G>A) | gnomAD v4 |
2 | g.26474718C>A | CA2658236658 | OTOF | c.3127-44G>T (n.3127-44G>T) c.886-44G>T (n.886-44G>T) c.1057-44G>T (n.1057-44G>T) c.3172-44G>T (n.3172-44G>T) | gnomAD v4 |
2 | g.26474718C= | CA1239826558 | OTOF | c.3127-44G= (n.3127-44G=) c.886-44G= (n.886-44G=) c.1057-44G= (n.1057-44G=) c.3172-44G= (n.3172-44G=) | |
2 | g.26474718C>T | CA1239826559 | OTOF | c.3127-44G>A (n.3127-44G>A) c.886-44G>A (n.886-44G>A) c.1057-44G>A (n.1057-44G>A) c.3172-44G>A (n.3172-44G>A) | dbSNP gnomAD v4 |
2 | g.26474720C>A | CA767276534 | OTOF | c.3127-46G>T (n.3127-46G>T) c.886-46G>T (n.886-46G>T) c.1057-46G>T (n.1057-46G>T) c.3172-46G>T (n.3172-46G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26474720C= | CA1239826560 | OTOF | c.3127-46G= (n.3127-46G=) c.886-46G= (n.886-46G=) c.1057-46G= (n.1057-46G=) c.3172-46G= (n.3172-46G=) | |
2 | g.26474722C>A | CA1563652 | OTOF | c.3127-48G>T (n.3127-48G>T) c.886-48G>T (n.886-48G>T) c.1057-48G>T (n.1057-48G>T) c.3172-48G>T (n.3172-48G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26474722C= | CA1239826562 | OTOF | c.3127-48G= (n.3127-48G=) c.886-48G= (n.886-48G=) c.1057-48G= (n.1057-48G=) c.3172-48G= (n.3172-48G=) | |
2 | g.26474723C= | CA1239826563 | OTOF | c.3127-49G= (n.3127-49G=) c.886-49G= (n.886-49G=) c.1057-49G= (n.1057-49G=) c.3172-49G= (n.3172-49G=) | |
2 | g.26474723C>G | CA767276538 | OTOF | c.3127-49G>C (n.3127-49G>C) c.886-49G>C (n.886-49G>C) c.1057-49G>C (n.1057-49G>C) c.3172-49G>C (n.3172-49G>C) | dbSNP gnomAD v4 |
2 | g.26474724T>C | CA2576699365 | OTOF | c.3127-50A>G (n.3127-50A>G) c.886-50A>G (n.886-50A>G) c.1057-50A>G (n.1057-50A>G) c.3172-50A>G (n.3172-50A>G) | gnomAD v4 |