UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47341257_47344691del | CA913203384 | MYBPC3 | c.1091-1066_1791-12del c.1073-1066_1773-12del | |
| 11 | g.47343254_47343582delinsT | CA2573147072 | MYBPC3 | c.1133_1226+6delinsA c.1133_1224-106delinsA c.1115_1208+6delinsA | ClinVar dbSNP |
| 11 | g.47343492C>A | CA380328415 | MYBPC3 | c.1223G>T (p.Ser408Ile) c.1205G>T (p.Ser402Ile) | gnomAD v4 |
| 11 | g.47343492C= | CA1969337128 | MYBPC3 | c.1223G= (p.Ser408=) c.1205G= (p.Ser402=) | |
| 11 | g.47343492C>G | CA380328418 | MYBPC3 | c.1223G>C (p.Ser408Thr) c.1205G>C (p.Ser402Thr) | ClinVar dbSNP |
| 11 | g.47343492C>T | CA380328421 | MYBPC3 | c.1223G>A (p.Ser408Asn) c.1205G>A (p.Ser402Asn) | ClinVar dbSNP |
| 11 | g.47343493T>A | CA380328424 | MYBPC3 | c.1222A>T (p.Ser408Cys) c.1204A>T (p.Ser402Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343493T>C | CA380328427 | MYBPC3 | c.1222A>G (p.Ser408Gly) c.1204A>G (p.Ser402Gly) | ClinVar dbSNP |
| 11 | g.47343493T>G | CA009884 | MYBPC3 | c.1222A>C (p.Ser408Arg) c.1204A>C (p.Ser402Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343493T= | CA1969337130 | MYBPC3 | c.1222A= (p.Ser408=) c.1204A= (p.Ser402=) | |
| 11 | g.47343494G>A | CA474220386 | MYBPC3 | c.1221C>T (p.Gly407=) c.1203C>T (p.Gly401=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343494G>C | CA474220388 | MYBPC3 | c.1221C>G (p.Gly407=) c.1203C>G (p.Gly401=) | |
| 11 | g.47343494G= | CA1969337132 | MYBPC3 | c.1221C= (p.Gly407=) c.1203C= (p.Gly401=) | |
| 11 | g.47343494G>T | CA474220390 | MYBPC3 | c.1221C>A (p.Gly407=) c.1203C>A (p.Gly401=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343495C>A | CA380328437 | MYBPC3 | c.1220G>T (p.Gly407Val) c.1202G>T (p.Gly401Val) | gnomAD v4 |
| 11 | g.47343495C= | CA1969337134 | MYBPC3 | c.1220G= (p.Gly407=) c.1202G= (p.Gly401=) | |
| 11 | g.47343495C>G | CA380328432 | MYBPC3 | c.1220G>C (p.Gly407Ala) c.1202G>C (p.Gly401Ala) | |
| 11 | g.47343495C>T | CA380328434 | MYBPC3 | c.1220G>A (p.Gly407Asp) c.1202G>A (p.Gly401Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343496C>A | CA380328441 | MYBPC3 | c.1219G>T (p.Gly407Cys) c.1201G>T (p.Gly401Cys) | gnomAD v4 |
| 11 | g.47343496C= | CA1969337136 | MYBPC3 | c.1219G= (p.Gly407=) c.1201G= (p.Gly401=) | |
| 11 | g.47343496C>G | CA380328444 | MYBPC3 | c.1219G>C (p.Gly407Arg) c.1201G>C (p.Gly401Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343496C>T | CA009874 | MYBPC3 | c.1219G>A (p.Gly407Ser) c.1201G>A (p.Gly401Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343497G>A | CA043168 | MYBPC3 | c.1218C>T (p.Ser406=) c.1200C>T (p.Ser400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343497G>C | CA380328450 | MYBPC3 | c.1218C>G (p.Ser406Arg) c.1200C>G (p.Ser400Arg) | ClinVar |
| 11 | g.47343497G= | CA1969337139 | MYBPC3 | c.1218C= (p.Ser406=) c.1200C= (p.Ser400=) | |
| 11 | g.47343497G>T | CA380328453 | MYBPC3 | c.1218C>A (p.Ser406Arg) c.1200C>A (p.Ser400Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343498C>A | CA380328459 | MYBPC3 | c.1217G>T (p.Ser406Ile) c.1199G>T (p.Ser400Ile) | gnomAD v4 |
| 11 | g.47343498C= | CA1969337143 | MYBPC3 | c.1217G= (p.Ser406=) c.1199G= (p.Ser400=) | |
| 11 | g.47343498C>G | CA380328468 | MYBPC3 | c.1217G>C (p.Ser406Thr) c.1199G>C (p.Ser400Thr) | |
| 11 | g.47343498C>T | CA221697573 | MYBPC3 | c.1217G>A (p.Ser406Asn) c.1199G>A (p.Ser400Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343499T>A | CA380328473 | MYBPC3 | c.1216A>T (p.Ser406Cys) c.1198A>T (p.Ser400Cys) | ClinVar dbSNP |
| 11 | g.47343499T>C | CA380328474 | MYBPC3 | c.1216A>G (p.Ser406Gly) c.1198A>G (p.Ser400Gly) | gnomAD v4 |
| 11 | g.47343499T>G | CA380328475 | MYBPC3 | c.1216A>C (p.Ser406Arg) c.1198A>C (p.Ser400Arg) | |
| 11 | g.47343500C>A | CA380328479 | MYBPC3 | c.1215G>T (p.Met405Ile) c.1197G>T (p.Met399Ile) | gnomAD v4 |
| 11 | g.47343500C>G | CA380328481 | MYBPC3 | c.1215G>C (p.Met405Ile) c.1197G>C (p.Met399Ile) | |
| 11 | g.47343500C>T | CA380328477 | MYBPC3 | c.1215G>A (p.Met405Ile) c.1197G>A (p.Met399Ile) | gnomAD v4 |
| 11 | g.47343501A= | CA1969337144 | MYBPC3 | c.1214T= (p.Met405=) c.1196T= (p.Met399=) | |
| 11 | g.47343501A>C | CA380328485 | MYBPC3 | c.1214T>G (p.Met405Arg) c.1196T>G (p.Met399Arg) | gnomAD v4 |
| 11 | g.47343501A>G | CA380328483 | MYBPC3 | c.1214T>C (p.Met405Thr) c.1196T>C (p.Met399Thr) | gnomAD v4 |
| 11 | g.47343501A>T | CA221697580 | MYBPC3 | c.1214T>A (p.Met405Lys) c.1196T>A (p.Met399Lys) | dbSNP |
| 11 | g.47343502T>A | CA380328487 | MYBPC3 | c.1213A>T (p.Met405Leu) c.1195A>T (p.Met399Leu) | |
| 11 | g.47343502T>C | CA009867 | MYBPC3 | c.1213A>G (p.Met405Val) c.1195A>G (p.Met399Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343502T>G | CA221697585 | MYBPC3 | c.1213A>C (p.Met405Leu) c.1195A>C (p.Met399Leu) | dbSNP |
| 11 | g.47343502T= | CA1969337146 | MYBPC3 | c.1213A= (p.Met405=) c.1195A= (p.Met399=) | |
| 11 | g.47343503C>A | CA380328490 | MYBPC3 | c.1212G>T (p.Gln404His) c.1194G>T (p.Gln398His) | |
| 11 | g.47343503C>G | CA380328492 | MYBPC3 | c.1212G>C (p.Gln404His) c.1194G>C (p.Gln398His) | |
| 11 | g.47343503C>T | CA474220401 | MYBPC3 | c.1212G>A (p.Gln404=) c.1194G>A (p.Gln398=) | ClinVar gnomAD v4 |
| 11 | g.47343504T>A | CA380328495 | MYBPC3 | c.1211A>T (p.Gln404Leu) c.1193A>T (p.Gln398Leu) | |
| 11 | g.47343504T>C | CA380328497 | MYBPC3 | c.1211A>G (p.Gln404Arg) c.1193A>G (p.Gln398Arg) | gnomAD v4 |
| 11 | g.47343504T>G | CA043150 | MYBPC3 | c.1211A>C (p.Gln404Pro) c.1193A>C (p.Gln398Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343504T= | CA1969337148 | MYBPC3 | c.1211A= (p.Gln404=) c.1193A= (p.Gln398=) | |
| 11 | g.47343505G>A | CA009860 | MYBPC3 | c.1210C>T (p.Gln404Ter) c.1192C>T (p.Gln398Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343505G>C | CA380328501 | MYBPC3 | c.1210C>G (p.Gln404Glu) c.1192C>G (p.Gln398Glu) | |
| 11 | g.47343505G= | CA1969337150 | MYBPC3 | c.1210C= (p.Gln404=) c.1192C= (p.Gln398=) | |
| 11 | g.47343505G>T | CA380328502 | MYBPC3 | c.1210C>A (p.Gln404Lys) c.1192C>A (p.Gln398Lys) | gnomAD v4 |
| 11 | g.47343506del | CA2613406949 | MYBPC3 | c.1210del (p.Gln404ArgfsTer2) c.1192del (p.Gln398ArgfsTer2) | gnomAD v4 |
| 11 | g.47343506G>A | CA474220404 | MYBPC3 | c.1209C>T (p.Ile403=) c.1191C>T (p.Ile397=) | |
| 11 | g.47343506G>C | CA380328503 | MYBPC3 | c.1209C>G (p.Ile403Met) c.1191C>G (p.Ile397Met) | |
| 11 | g.47343506G>T | CA474220403 | MYBPC3 | c.1209C>A (p.Ile403=) c.1191C>A (p.Ile397=) | gnomAD v4 |
| 11 | g.47343507A>C | CA380328504 | MYBPC3 | c.1208T>G (p.Ile403Ser) c.1190T>G (p.Ile397Ser) | gnomAD v4 |
| 11 | g.47343507A>G | CA380328509 | MYBPC3 | c.1208T>C (p.Ile403Thr) c.1190T>C (p.Ile397Thr) | |
| 11 | g.47343507A>T | CA380328506 | MYBPC3 | c.1208T>A (p.Ile403Asn) c.1190T>A (p.Ile397Asn) | ClinVar dbSNP |
| 11 | g.47343508T>A | CA380328512 | MYBPC3 | c.1207A>T (p.Ile403Phe) c.1189A>T (p.Ile397Phe) | |
| 11 | g.47343508T>C | CA380328516 | MYBPC3 | c.1207A>G (p.Ile403Val) c.1189A>G (p.Ile397Val) | |
| 11 | g.47343508T>G | CA380328519 | MYBPC3 | c.1207A>C (p.Ile403Leu) c.1189A>C (p.Ile397Leu) | |
| 11 | g.47343509C>A | CA380328523 | MYBPC3 | c.1206G>T (p.Glu402Asp) c.1188G>T (p.Glu396Asp) | gnomAD v4 |
| 11 | g.47343509C>G | CA380328525 | MYBPC3 | c.1206G>C (p.Glu402Asp) c.1188G>C (p.Glu396Asp) | |
| 11 | g.47343509C>T | CA474220406 | MYBPC3 | c.1206G>A (p.Glu402=) c.1188G>A (p.Glu396=) | gnomAD v4 |
| 11 | g.47343510T>A | CA380328531 | MYBPC3 | c.1205A>T (p.Glu402Val) c.1187A>T (p.Glu396Val) | |
| 11 | g.47343510T>C | CA380328534 | MYBPC3 | c.1205A>G (p.Glu402Gly) c.1187A>G (p.Glu396Gly) | |
| 11 | g.47343510T>G | CA380328546 | MYBPC3 | c.1205A>C (p.Glu402Ala) c.1187A>C (p.Glu396Ala) | |
| 11 | g.47343511C>A | CA380328551 | MYBPC3 | c.1204G>T (p.Glu402Ter) c.1186G>T (p.Glu396Ter) | |
| 11 | g.47343511C>G | CA380328555 | MYBPC3 | c.1204G>C (p.Glu402Gln) c.1186G>C (p.Glu396Gln) | |
| 11 | g.47343511C>T | CA380328558 | MYBPC3 | c.1204G>A (p.Glu402Lys) c.1186G>A (p.Glu396Lys) | COSMIC COSMIC |
| 11 | g.47343512del | CA2613406962 | MYBPC3 | c.1204del (p.Glu402ArgfsTer4) c.1186del (p.Glu396ArgfsTer4) | gnomAD v4 |
| 11 | g.47343512C>A | CA380328563 | MYBPC3 | c.1203G>T (p.Gln401His) c.1185G>T (p.Gln395His) | |
| 11 | g.47343512C>G | CA380328561 | MYBPC3 | c.1203G>C (p.Gln401His) c.1185G>C (p.Gln395His) | |
| 11 | g.47343512C>T | CA474220412 | MYBPC3 | c.1203G>A (p.Gln401=) c.1185G>A (p.Gln395=) | |
| 11 | g.47343513T>A | CA380328569 | MYBPC3 | c.1202A>T (p.Gln401Leu) c.1184A>T (p.Gln395Leu) | |
| 11 | g.47343513T>C | CA380328574 | MYBPC3 | c.1202A>G (p.Gln401Arg) c.1184A>G (p.Gln395Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343513T>G | CA380328572 | MYBPC3 | c.1202A>C (p.Gln401Pro) c.1184A>C (p.Gln395Pro) | |
| 11 | g.47343513T= | CA1969337152 | MYBPC3 | c.1202A= (p.Gln401=) c.1184A= (p.Gln395=) | |
| 11 | g.47343514G>A | CA009855 | MYBPC3 | c.1201C>T (p.Gln401Ter) c.1183C>T (p.Gln395Ter) | ClinVar dbSNP |
| 11 | g.47343514G>C | CA380328587 | MYBPC3 | c.1201C>G (p.Gln401Glu) c.1183C>G (p.Gln395Glu) | |
| 11 | g.47343514G= | CA1969337154 | MYBPC3 | c.1201C= (p.Gln401=) c.1183C= (p.Gln395=) | |
| 11 | g.47343514G>T | CA380328592 | MYBPC3 | c.1201C>A (p.Gln401Lys) c.1183C>A (p.Gln395Lys) | gnomAD v4 |
| 11 | g.47343515dup | CA2695213922 | MYBPC3 | c.1201dup (p.Gln401ProfsTer13) c.1183dup (p.Gln395ProfsTer13) | |
| 11 | g.47343515G>A | CA474220418 | MYBPC3 | c.1200C>T (p.Gly400=) c.1182C>T (p.Gly394=) | |
| 11 | g.47343515G>C | CA474220419 | MYBPC3 | c.1200C>G (p.Gly400=) c.1182C>G (p.Gly394=) | |
| 11 | g.47343515G>T | CA474220421 | MYBPC3 | c.1200C>A (p.Gly400=) c.1182C>A (p.Gly394=) | |
| 11 | g.47343516C>A | CA380328596 | MYBPC3 | c.1199G>T (p.Gly400Val) c.1181G>T (p.Gly394Val) | gnomAD v4 |
| 11 | g.47343516C>G | CA380328600 | MYBPC3 | c.1199G>C (p.Gly400Ala) c.1181G>C (p.Gly394Ala) | |
| 11 | g.47343516C>T | CA380328603 | MYBPC3 | c.1199G>A (p.Gly400Asp) c.1181G>A (p.Gly394Asp) | ClinVar |
| 11 | g.47343517C>A | CA380328607 | MYBPC3 | c.1198G>T (p.Gly400Cys) c.1180G>T (p.Gly394Cys) | |
| 11 | g.47343517C>G | CA380328610 | MYBPC3 | c.1198G>C (p.Gly400Arg) c.1180G>C (p.Gly394Arg) | |
| 11 | g.47343517C>T | CA380328613 | MYBPC3 | c.1198G>A (p.Gly400Ser) c.1180G>A (p.Gly394Ser) | |
| 11 | g.47343518A= | CA1969337155 | MYBPC3 | c.1197T= (p.Asn399=) c.1179T= (p.Asn393=) | |
| 11 | g.47343518A>C | CA380328615 | MYBPC3 | c.1197T>G (p.Asn399Lys) c.1179T>G (p.Asn393Lys) | gnomAD v3 gnomAD v4 |
| 11 | g.47343518A>G | CA221697603 | MYBPC3 | c.1197T>C (p.Asn399=) c.1179T>C (p.Asn393=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343518A>T | CA380328617 | MYBPC3 | c.1197T>A (p.Asn399Lys) c.1179T>A (p.Asn393Lys) | |
| 11 | g.47343519T>A | CA380328626 | MYBPC3 | c.1196A>T (p.Asn399Ile) c.1178A>T (p.Asn393Ile) | |
| 11 | g.47343519T>C | CA380328623 | MYBPC3 | c.1196A>G (p.Asn399Ser) c.1178A>G (p.Asn393Ser) | |
| 11 | g.47343519T>G | CA380328620 | MYBPC3 | c.1196A>C (p.Asn399Thr) c.1178A>C (p.Asn393Thr) | |
| 11 | g.47343520T>A | CA380328631 | MYBPC3 | c.1195A>T (p.Asn399Tyr) c.1177A>T (p.Asn393Tyr) | |
| 11 | g.47343520T>C | CA380328633 | MYBPC3 | c.1195A>G (p.Asn399Asp) c.1177A>G (p.Asn393Asp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343520T>G | CA380328637 | MYBPC3 | c.1195A>C (p.Asn399His) c.1177A>C (p.Asn393His) | |
| 11 | g.47343521del | CA2573147073 | MYBPC3 | c.1194del (p.Asn399MetfsTer7) c.1176del (p.Asn393MetfsTer7) | ClinVar dbSNP |
| 11 | g.47343521C>A | CA380328640 | MYBPC3 | c.1194G>T (p.Lys398Asn) c.1176G>T (p.Lys392Asn) | gnomAD v4 |
| 11 | g.47343521C>G | CA380328643 | MYBPC3 | c.1194G>C (p.Lys398Asn) c.1176G>C (p.Lys392Asn) | gnomAD v4 |
| 11 | g.47343521C>T | CA474220431 | MYBPC3 | c.1194G>A (p.Lys398=) c.1176G>A (p.Lys392=) | |
| 11 | g.47343522T>A | CA380328648 | MYBPC3 | c.1193A>T (p.Lys398Met) c.1175A>T (p.Lys392Met) | |
| 11 | g.47343522T>C | CA380328653 | MYBPC3 | c.1193A>G (p.Lys398Arg) c.1175A>G (p.Lys392Arg) | ClinVar gnomAD v4 |
| 11 | g.47343522T>G | CA380328655 | MYBPC3 | c.1193A>C (p.Lys398Thr) c.1175A>C (p.Lys392Thr) | |
| 11 | g.47343523T>A | CA380328660 | MYBPC3 | c.1192A>T (p.Lys398Ter) c.1174A>T (p.Lys392Ter) | |
| 11 | g.47343523T>C | CA380328663 | MYBPC3 | c.1192A>G (p.Lys398Glu) c.1174A>G (p.Lys392Glu) | ClinVar dbSNP |
| 11 | g.47343523T>G | CA380328666 | MYBPC3 | c.1192A>C (p.Lys398Gln) c.1174A>C (p.Lys392Gln) | gnomAD v4 |
| 11 | g.47343523T= | CA1969337157 | MYBPC3 | c.1192A= (p.Lys398=) c.1174A= (p.Lys392=) | |
| 11 | g.47343524G>A | CA474220439 | MYBPC3 | c.1191C>T (p.Leu397=) c.1173C>T (p.Leu391=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343524G>C | CA474220441 | MYBPC3 | c.1191C>G (p.Leu397=) c.1173C>G (p.Leu391=) | |
| 11 | g.47343524G= | CA1969337158 | MYBPC3 | c.1191C= (p.Leu397=) c.1173C= (p.Leu391=) | |
| 11 | g.47343524G>T | CA474220440 | MYBPC3 | c.1191C>A (p.Leu397=) c.1173C>A (p.Leu391=) | |
| 11 | g.47343525A>C | CA380328668 | MYBPC3 | c.1190T>G (p.Leu397Arg) c.1172T>G (p.Leu391Arg) | |
| 11 | g.47343525A>G | CA380328672 | MYBPC3 | c.1190T>C (p.Leu397Pro) c.1172T>C (p.Leu391Pro) | |
| 11 | g.47343525A>T | CA380328674 | MYBPC3 | c.1190T>A (p.Leu397His) c.1172T>A (p.Leu391His) | |
| 11 | g.47343526G>A | CA380328684 | MYBPC3 | c.1189C>T (p.Leu397Phe) c.1171C>T (p.Leu391Phe) | gnomAD v4 |
| 11 | g.47343526G>C | CA380328681 | MYBPC3 | c.1189C>G (p.Leu397Val) c.1171C>G (p.Leu391Val) | |
| 11 | g.47343526G>T | CA380328680 | MYBPC3 | c.1189C>A (p.Leu397Ile) c.1171C>A (p.Leu391Ile) | |
| 11 | g.47343527C>A | CA009849 | MYBPC3 | c.1188G>T (p.Trp396Cys) c.1170G>T (p.Trp390Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343527C= | CA1969337160 | MYBPC3 | c.1188G= (p.Trp396=) c.1170G= (p.Trp390=) | |
| 11 | g.47343527C>G | CA380328711 | MYBPC3 | c.1188G>C (p.Trp396Cys) c.1170G>C (p.Trp390Cys) | |
| 11 | g.47343527C>T | CA009844 | MYBPC3 | c.1188G>A (p.Trp396Ter) c.1170G>A (p.Trp390Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343528C>A | CA380328715 | MYBPC3 | c.1187G>T (p.Trp396Leu) c.1169G>T (p.Trp390Leu) | |
| 11 | g.47343528C>G | CA380328719 | MYBPC3 | c.1187G>C (p.Trp396Ser) c.1169G>C (p.Trp390Ser) | |
| 11 | g.47343528C>T | CA380328717 | MYBPC3 | c.1187G>A (p.Trp396Ter) c.1169G>A (p.Trp390Ter) | ClinVar |
| 11 | g.47343529A>C | CA380328723 | MYBPC3 | c.1186T>G (p.Trp396Gly) c.1168T>G (p.Trp390Gly) | |
| 11 | g.47343529A>G | CA380328728 | MYBPC3 | c.1186T>C (p.Trp396Arg) c.1168T>C (p.Trp390Arg) | |
| 11 | g.47343529A>T | CA380328726 | MYBPC3 | c.1186T>A (p.Trp396Arg) c.1168T>A (p.Trp390Arg) | |
| 11 | g.47343530T>A | CA380328732 | MYBPC3 | c.1185A>T (p.Lys395Asn) c.1167A>T (p.Lys389Asn) | |
| 11 | g.47343530T>C | CA474220452 | MYBPC3 | c.1185A>G (p.Lys395=) c.1167A>G (p.Lys389=) | |
| 11 | g.47343530T>G | CA380328734 | MYBPC3 | c.1185A>C (p.Lys395Asn) c.1167A>C (p.Lys389Asn) | |
| 11 | g.47343531T>A | CA380328740 | MYBPC3 | c.1184A>T (p.Lys395Ile) c.1166A>T (p.Lys389Ile) | COSMIC |
| 11 | g.47343531T>C | CA380328745 | MYBPC3 | c.1184A>G (p.Lys395Arg) c.1166A>G (p.Lys389Arg) | |
| 11 | g.47343531T>G | CA380328748 | MYBPC3 | c.1184A>C (p.Lys395Thr) c.1166A>C (p.Lys389Thr) | |
| 11 | g.47343532T>A | CA380328752 | MYBPC3 | c.1183A>T (p.Lys395Ter) c.1165A>T (p.Lys389Ter) | ClinVar dbSNP |
| 11 | g.47343532T>C | CA380328755 | MYBPC3 | c.1183A>G (p.Lys395Glu) c.1165A>G (p.Lys389Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343532T>G | CA380328758 | MYBPC3 | c.1183A>C (p.Lys395Gln) c.1165A>C (p.Lys389Gln) | |
| 11 | g.47343532T= | CA1969337163 | MYBPC3 | c.1183A= (p.Lys395=) c.1165A= (p.Lys389=) | |
| 11 | g.47343533G>A | CA474220458 | MYBPC3 | c.1182C>T (p.Val394=) c.1164C>T (p.Val388=) | gnomAD v4 |
| 11 | g.47343533G>C | CA043065 | MYBPC3 | c.1182C>G (p.Val394=) c.1164C>G (p.Val388=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47343533G= | CA1969337166 | MYBPC3 | c.1182C= (p.Val394=) c.1164C= (p.Val388=) | |
| 11 | g.47343533G>T | CA009839 | MYBPC3 | c.1182C>A (p.Val394=) c.1164C>A (p.Val388=) | ClinVar dbSNP |
| 11 | g.47343534A>C | CA380328769 | MYBPC3 | c.1181T>G (p.Val394Gly) c.1163T>G (p.Val388Gly) | |
| 11 | g.47343534A>G | CA380328771 | MYBPC3 | c.1181T>C (p.Val394Ala) c.1163T>C (p.Val388Ala) | |
| 11 | g.47343534A>T | CA380328773 | MYBPC3 | c.1181T>A (p.Val394Asp) c.1163T>A (p.Val388Asp) | |
| 11 | g.47343535C>A | CA380328780 | MYBPC3 | c.1180G>T (p.Val394Phe) c.1162G>T (p.Val388Phe) | |
| 11 | g.47343535C= | CA1969337168 | MYBPC3 | c.1180G= (p.Val394=) c.1162G= (p.Val388=) | |
| 11 | g.47343535C>G | CA380328777 | MYBPC3 | c.1180G>C (p.Val394Leu) c.1162G>C (p.Val388Leu) | |
| 11 | g.47343535C>T | CA043047 | MYBPC3 | c.1180G>A (p.Val394Ile) c.1162G>A (p.Val388Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343536C>A | CA380328784 | MYBPC3 | c.1179G>T (p.Glu393Asp) c.1161G>T (p.Glu387Asp) | |
| 11 | g.47343536C= | CA1969337170 | MYBPC3 | c.1179G= (p.Glu393=) c.1161G= (p.Glu387=) | |
| 11 | g.47343536C>G | CA380328787 | MYBPC3 | c.1179G>C (p.Glu393Asp) c.1161G>C (p.Glu387Asp) | |
| 11 | g.47343536C>T | CA043005 | MYBPC3 | c.1179G>A (p.Glu393=) c.1161G>A (p.Glu387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343537T>A | CA380328788 | MYBPC3 | c.1178A>T (p.Glu393Val) c.1160A>T (p.Glu387Val) | |
| 11 | g.47343537T>C | CA380328789 | MYBPC3 | c.1178A>G (p.Glu393Gly) c.1160A>G (p.Glu387Gly) | |
| 11 | g.47343537T>G | CA380328792 | MYBPC3 | c.1178A>C (p.Glu393Ala) c.1160A>C (p.Glu387Ala) | |
| 11 | g.47343538C>A | CA380328796 | MYBPC3 | c.1177G>T (p.Glu393Ter) c.1159G>T (p.Glu387Ter) | |
| 11 | g.47343538C= | CA1969337172 | MYBPC3 | c.1177G= (p.Glu393=) c.1159G= (p.Glu387=) | |
| 11 | g.47343538C>G | CA380328798 | MYBPC3 | c.1177G>C (p.Glu393Gln) c.1159G>C (p.Glu387Gln) | dbSNP |
| 11 | g.47343538C>T | CA380328799 | MYBPC3 | c.1177G>A (p.Glu393Lys) c.1159G>A (p.Glu387Lys) | gnomAD v4 |
| 11 | g.47343539A= | CA1969337173 | MYBPC3 | c.1176T= (p.Ala392=) c.1158T= (p.Ala386=) | |
| 11 | g.47343539A>C | CA474220476 | MYBPC3 | c.1176T>G (p.Ala392=) c.1158T>G (p.Ala386=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343539A>G | CA474220474 | MYBPC3 | c.1176T>C (p.Ala392=) c.1158T>C (p.Ala386=) | |
| 11 | g.47343539A>T | CA474220475 | MYBPC3 | c.1176T>A (p.Ala392=) c.1158T>A (p.Ala386=) | |
| 11 | g.47343540G>A | CA380328800 | MYBPC3 | c.1175C>T (p.Ala392Val) c.1157C>T (p.Ala386Val) | |
| 11 | g.47343540G>C | CA380328801 | MYBPC3 | c.1175C>G (p.Ala392Gly) c.1157C>G (p.Ala386Gly) | |
| 11 | g.47343540G>T | CA380328802 | MYBPC3 | c.1175C>A (p.Ala392Asp) c.1157C>A (p.Ala386Asp) | |
| 11 | g.47343540_47343541delinsGC | CA1969337175 | MYBPC3 | c.1174_1175delinsGC (p.Ala392=) c.1156_1157delinsGC (p.Ala386=) | |
| 11 | g.47343541del | CA891842478 | MYBPC3 | c.1174del (p.Ala392LeufsTer14) c.1156del (p.Ala386LeufsTer14) | ClinVar dbSNP |
| 11 | g.47343541C>A | CA380328805 | MYBPC3 | c.1174G>T (p.Ala392Ser) c.1156G>T (p.Ala386Ser) | ClinVar gnomAD v4 |
| 11 | g.47343541C= | CA1969337177 | MYBPC3 | c.1174G= (p.Ala392=) c.1156G= (p.Ala386=) | |
| 11 | g.47343541C>G | CA380328804 | MYBPC3 | c.1174G>C (p.Ala392Pro) c.1156G>C (p.Ala386Pro) | |
| 11 | g.47343541C>T | CA221697618 | MYBPC3 | c.1174G>A (p.Ala392Thr) c.1156G>A (p.Ala386Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343542G>A | CA042990 | MYBPC3 | c.1173C>T (p.Asp391=) c.1155C>T (p.Asp385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343542G>C | CA380328806 | MYBPC3 | c.1173C>G (p.Asp391Glu) c.1155C>G (p.Asp385Glu) | |
| 11 | g.47343542G= | CA1969337179 | MYBPC3 | c.1173C= (p.Asp391=) c.1155C= (p.Asp385=) | |
| 11 | g.47343542G>T | CA380328808 | MYBPC3 | c.1173C>A (p.Asp391Glu) c.1155C>A (p.Asp385Glu) | |
| 11 | g.47343543T>A | CA380328811 | MYBPC3 | c.1172A>T (p.Asp391Val) c.1154A>T (p.Asp385Val) | |
| 11 | g.47343543T>C | CA380328812 | MYBPC3 | c.1172A>G (p.Asp391Gly) c.1154A>G (p.Asp385Gly) | gnomAD v4 |
| 11 | g.47343543T>G | CA380328813 | MYBPC3 | c.1172A>C (p.Asp391Ala) c.1154A>C (p.Asp385Ala) | |
| 11 | g.47343543T= | CA1969337182 | MYBPC3 | c.1172A= (p.Asp391=) c.1154A= (p.Asp385=) | |
| 11 | g.47343544del | CA2573051162 | MYBPC3 | c.1171del (p.Asp391ThrfsTer15) c.1153del (p.Asp385ThrfsTer15) | |
| 11 | g.47343544C>A | CA042973 | MYBPC3 | c.1171G>T (p.Asp391Tyr) c.1153G>T (p.Asp385Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343544C= | CA1969337183 | MYBPC3 | c.1171G= (p.Asp391=) c.1153G= (p.Asp385=) | |
| 11 | g.47343544C>G | CA380328814 | MYBPC3 | c.1171G>C (p.Asp391His) c.1153G>C (p.Asp385His) | |
| 11 | g.47343544C>T | CA380328815 | MYBPC3 | c.1171G>A (p.Asp391Asn) c.1153G>A (p.Asp385Asn) | |
| 11 | g.47343546_47343561dup | CA296444 | MYBPC3 | c.1156_1171dup (p.Asp391GlyfsTer4) c.1138_1153dup (p.Asp385GlyfsTer4) | ClinVar dbSNP |
| 11 | g.47343545A>C | CA380328816 | MYBPC3 | c.1170T>G (p.His390Gln) c.1152T>G (p.His384Gln) | |
| 11 | g.47343545A>G | CA474220492 | MYBPC3 | c.1170T>C (p.His390=) c.1152T>C (p.His384=) | ClinVar dbSNP |
| 11 | g.47343545A>T | CA380328817 | MYBPC3 | c.1170T>A (p.His390Gln) c.1152T>A (p.His384Gln) | |
| 11 | g.47343546T>A | CA380328818 | MYBPC3 | c.1169A>T (p.His390Leu) c.1151A>T (p.His384Leu) | |
| 11 | g.47343546T>C | CA380328820 | MYBPC3 | c.1169A>G (p.His390Arg) c.1151A>G (p.His384Arg) | |
| 11 | g.47343546T>G | CA380328819 | MYBPC3 | c.1169A>C (p.His390Pro) c.1151A>C (p.His384Pro) | ClinVar |
| 11 | g.47343546_47343547delinsTG | CA1969337187 | MYBPC3 | c.1168_1169delinsCA (p.His390=) c.1150_1151delinsCA (p.His384=) | |
| 11 | g.47343546_47343562delinsTGGTCAGCCAGTTCCAC | CA1969337186 | MYBPC3 | c.1153_1169delinsGTGGAACTGGCTGACCA (p.Val385=) c.1135_1151delinsGTGGAACTGGCTGACCA (p.Val379=) | |
| 11 | g.47343547G>A | CA380328821 | MYBPC3 | c.1168C>T (p.His390Tyr) c.1150C>T (p.His384Tyr) | |
| 11 | g.47343547G>C | CA380328822 | MYBPC3 | c.1168C>G (p.His390Asp) c.1150C>G (p.His384Asp) | |
| 11 | g.47343547G= | CA1969337190 | MYBPC3 | c.1168C= (p.His390=) c.1150C= (p.His384=) | |
| 11 | g.47343547G>T | CA380328823 | MYBPC3 | c.1168C>A (p.His390Asn) c.1150C>A (p.His384Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343548dup | CA913190286 | MYBPC3 | c.1168dup (p.His390ProfsTer2) c.1150dup (p.His384ProfsTer2) | ClinVar dbSNP |
| 11 | g.47343548del | CA009831 | MYBPC3 | c.1168del (p.His390MetfsTer16) c.1150del (p.His384MetfsTer16) | ClinVar dbSNP |
| 11 | g.47343555_47343570del | CA352432 | MYBPC3 | c.1153_1168del (p.Val385MetfsTer16) c.1135_1150del (p.Val379MetfsTer16) | ClinVar dbSNP |
| 11 | g.47343548G>A | CA474220498 | MYBPC3 | c.1167C>T (p.Asp389=) c.1149C>T (p.Asp383=) | gnomAD v4 |
| 11 | g.47343548G>C | CA380328831 | MYBPC3 | c.1167C>G (p.Asp389Glu) c.1149C>G (p.Asp383Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343548G= | CA1969337192 | MYBPC3 | c.1167C= (p.Asp389=) c.1149C= (p.Asp383=) | |
| 11 | g.47343548G>T | CA380328833 | MYBPC3 | c.1167C>A (p.Asp389Glu) c.1149C>A (p.Asp383Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343549T>A | CA380328836 | MYBPC3 | c.1166A>T (p.Asp389Val) c.1148A>T (p.Asp383Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343549T>C | CA380328838 | MYBPC3 | c.1166A>G (p.Asp389Gly) c.1148A>G (p.Asp383Gly) | |
| 11 | g.47343549T>G | CA380328839 | MYBPC3 | c.1166A>C (p.Asp389Ala) c.1148A>C (p.Asp383Ala) | |
| 11 | g.47343549T= | CA1969337194 | MYBPC3 | c.1166A= (p.Asp389=) c.1148A= (p.Asp383=) | |
| 11 | g.47343550C>A | CA380328844 | MYBPC3 | c.1165G>T (p.Asp389Tyr) c.1147G>T (p.Asp383Tyr) | |
| 11 | g.47343550C>G | CA380328843 | MYBPC3 | c.1165G>C (p.Asp389His) c.1147G>C (p.Asp383His) | |
| 11 | g.47343550C>T | CA380328841 | MYBPC3 | c.1165G>A (p.Asp389Asn) c.1147G>A (p.Asp383Asn) | |
| 11 | g.47343551A>C | CA474220503 | MYBPC3 | c.1164T>G (p.Ala388=) c.1146T>G (p.Ala382=) | |
| 11 | g.47343551A>G | CA474220504 | MYBPC3 | c.1164T>C (p.Ala388=) c.1146T>C (p.Ala382=) | |
| 11 | g.47343551A>T | CA474220505 | MYBPC3 | c.1164T>A (p.Ala388=) c.1146T>A (p.Ala382=) | |
| 11 | g.47343552G>A | CA380328846 | MYBPC3 | c.1163C>T (p.Ala388Val) c.1145C>T (p.Ala382Val) | |
| 11 | g.47343552G>C | CA380328848 | MYBPC3 | c.1163C>G (p.Ala388Gly) c.1145C>G (p.Ala382Gly) | |
| 11 | g.47343552G= | CA1969337195 | MYBPC3 | c.1163C= (p.Ala388=) c.1145C= (p.Ala382=) | |
| 11 | g.47343552G>T | CA380328847 | MYBPC3 | c.1163C>A (p.Ala388Asp) c.1145C>A (p.Ala382Asp) | |
| 11 | g.47343553C>A | CA380328852 | MYBPC3 | c.1162G>T (p.Ala388Ser) c.1144G>T (p.Ala382Ser) | |
| 11 | g.47343553C>G | CA380328855 | MYBPC3 | c.1162G>C (p.Ala388Pro) c.1144G>C (p.Ala382Pro) | |
| 11 | g.47343553C>T | CA380328857 | MYBPC3 | c.1162G>A (p.Ala388Thr) c.1144G>A (p.Ala382Thr) | gnomAD v4 COSMIC |
| 11 | g.47343554dup | CA296500 | MYBPC3 | c.1162dup (p.Ala388GlyfsTer2) c.1144dup (p.Ala382GlyfsTer2) | ClinVar dbSNP |
| 11 | g.47343554C>A | CA474220512 | MYBPC3 | c.1161G>T (p.Leu387=) c.1143G>T (p.Leu381=) | |
| 11 | g.47343554C>G | CA474220511 | MYBPC3 | c.1161G>C (p.Leu387=) c.1143G>C (p.Leu381=) | |
| 11 | g.47343554C>T | CA474220510 | MYBPC3 | c.1161G>A (p.Leu387=) c.1143G>A (p.Leu381=) | gnomAD v4 |
| 11 | g.47343555A>C | CA380328860 | MYBPC3 | c.1160T>G (p.Leu387Arg) c.1142T>G (p.Leu381Arg) | |
| 11 | g.47343555A>G | CA380328862 | MYBPC3 | c.1160T>C (p.Leu387Pro) c.1142T>C (p.Leu381Pro) | |
| 11 | g.47343555A>T | CA380328864 | MYBPC3 | c.1160T>A (p.Leu387Gln) c.1142T>A (p.Leu381Gln) | |
| 11 | g.47343556G>A | CA474220517 | MYBPC3 | c.1159C>T (p.Leu387=) c.1141C>T (p.Leu381=) | gnomAD v4 |
| 11 | g.47343556G>C | CA380328866 | MYBPC3 | c.1159C>G (p.Leu387Val) c.1141C>G (p.Leu381Val) | |
| 11 | g.47343556G>T | CA380328867 | MYBPC3 | c.1159C>A (p.Leu387Met) c.1141C>A (p.Leu381Met) | |
| 11 | g.47343557T>A | CA380328868 | MYBPC3 | c.1158A>T (p.Glu386Asp) c.1140A>T (p.Glu380Asp) | |
| 11 | g.47343557T>C | CA474220520 | MYBPC3 | c.1158A>G (p.Glu386=) c.1140A>G (p.Glu380=) | |
| 11 | g.47343557T>G | CA380328871 | MYBPC3 | c.1158A>C (p.Glu386Asp) c.1140A>C (p.Glu380Asp) | |
| 11 | g.47343558T>A | CA380328876 | MYBPC3 | c.1157A>T (p.Glu386Val) c.1139A>T (p.Glu380Val) | |
| 11 | g.47343558T>C | CA380328875 | MYBPC3 | c.1157A>G (p.Glu386Gly) c.1139A>G (p.Glu380Gly) | |
| 11 | g.47343558T>G | CA380328873 | MYBPC3 | c.1157A>C (p.Glu386Ala) c.1139A>C (p.Glu380Ala) | |
| 11 | g.47343559C>A | CA009823 | MYBPC3 | c.1156G>T (p.Glu386Ter) c.1138G>T (p.Glu380Ter) | ClinVar dbSNP |
| 11 | g.47343559C= | CA1969337199 | MYBPC3 | c.1156G= (p.Glu386=) c.1138G= (p.Glu380=) | |
| 11 | g.47343559C>G | CA380328877 | MYBPC3 | c.1156G>C (p.Glu386Gln) c.1138G>C (p.Glu380Gln) | |
| 11 | g.47343559C>T | CA380328878 | MYBPC3 | c.1156G>A (p.Glu386Lys) c.1138G>A (p.Glu380Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343560C>A | CA474220523 | MYBPC3 | c.1155G>T (p.Val385=) c.1137G>T (p.Val379=) | |
| 11 | g.47343560C= | CA1969337201 | MYBPC3 | c.1155G= (p.Val385=) c.1137G= (p.Val379=) | |
| 11 | g.47343560C>G | CA474220524 | MYBPC3 | c.1155G>C (p.Val385=) c.1137G>C (p.Val379=) | |
| 11 | g.47343560C>T | CA221697710 | MYBPC3 | c.1155G>A (p.Val385=) c.1137G>A (p.Val379=) | dbSNP gnomAD v4 |
| 11 | g.47343561A>C | CA380328882 | MYBPC3 | c.1154T>G (p.Val385Gly) c.1136T>G (p.Val379Gly) | |
| 11 | g.47343561A>G | CA380328888 | MYBPC3 | c.1154T>C (p.Val385Ala) c.1136T>C (p.Val379Ala) | |
| 11 | g.47343561A>T | CA380328890 | MYBPC3 | c.1154T>A (p.Val385Glu) c.1136T>A (p.Val379Glu) | |
| 11 | g.47343562C>A | CA380328895 | MYBPC3 | c.1153G>T (p.Val385Leu) c.1135G>T (p.Val379Leu) | |
| 11 | g.47343562C= | CA1969337203 | MYBPC3 | c.1153G= (p.Val385=) c.1135G= (p.Val379=) | |
| 11 | g.47343562C>G | CA380328900 | MYBPC3 | c.1153G>C (p.Val385Leu) c.1135G>C (p.Val379Leu) | ClinVar |
| 11 | g.47343562C>T | CA042951 | MYBPC3 | c.1153G>A (p.Val385Met) c.1135G>A (p.Val379Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47343563G>A | CA042935 | MYBPC3 | c.1152C>T (p.Thr384=) c.1134C>T (p.Thr378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47343563G>C | CA042919 | MYBPC3 | c.1152C>G (p.Thr384=) c.1134C>G (p.Thr378=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47343563G= | CA1969337206 | MYBPC3 | c.1152C= (p.Thr384=) c.1134C= (p.Thr378=) | |
| 11 | g.47343563G>T | CA474220533 | MYBPC3 | c.1152C>A (p.Thr384=) c.1134C>A (p.Thr378=) | gnomAD v4 |
| 11 | g.47343564G>A | CA380328949 | MYBPC3 | c.1151C>T (p.Thr384Ile) c.1133C>T (p.Thr378Ile) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343564G>C | CA380328943 | MYBPC3 | c.1151C>G (p.Thr384Ser) c.1133C>G (p.Thr378Ser) | |
| 11 | g.47343564G= | CA1969337209 | MYBPC3 | c.1151C= (p.Thr384=) c.1133C= (p.Thr378=) | |
| 11 | g.47343564G>T | CA380328927 | MYBPC3 | c.1151C>A (p.Thr384Asn) c.1133C>A (p.Thr378Asn) | gnomAD v4 |
| 11 | g.47343565T>A | CA380328954 | MYBPC3 | c.1150A>T (p.Thr384Ser) c.1132A>T (p.Thr378Ser) | |
| 11 | g.47343565T>C | CA380328957 | MYBPC3 | c.1150A>G (p.Thr384Ala) c.1132A>G (p.Thr378Ala) | |
| 11 | g.47343565T>G | CA380328960 | MYBPC3 | c.1150A>C (p.Thr384Pro) c.1132A>C (p.Thr378Pro) | |
| 11 | g.47343566C>A | CA474220536 | MYBPC3 | c.1149G>T (p.Leu383=) c.1131G>T (p.Leu377=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343566C= | CA1969337211 | MYBPC3 | c.1149G= (p.Leu383=) c.1131G= (p.Leu377=) | |
| 11 | g.47343566C>G | CA474220539 | MYBPC3 | c.1149G>C (p.Leu383=) c.1131G>C (p.Leu377=) | |
| 11 | g.47343566C>T | CA474220540 | MYBPC3 | c.1149G>A (p.Leu383=) c.1131G>A (p.Leu377=) | |
| 11 | g.47343567A>C | CA380328963 | MYBPC3 | c.1148T>G (p.Leu383Arg) c.1130T>G (p.Leu377Arg) | |
| 11 | g.47343567A>G | CA380328968 | MYBPC3 | c.1148T>C (p.Leu383Pro) c.1130T>C (p.Leu377Pro) | |
| 11 | g.47343567A>T | CA380328970 | MYBPC3 | c.1148T>A (p.Leu383Gln) c.1130T>A (p.Leu377Gln) | |
| 11 | g.47343568G>A | CA474220543 | MYBPC3 | c.1147C>T (p.Leu383=) c.1129C>T (p.Leu377=) | ClinVar dbSNP |
| 11 | g.47343568G>C | CA009817 | MYBPC3 | c.1147C>G (p.Leu383Val) c.1129C>G (p.Leu377Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343568G= | CA1969337213 | MYBPC3 | c.1147C= (p.Leu383=) c.1129C= (p.Leu377=) | |
| 11 | g.47343568G>T | CA380328973 | MYBPC3 | c.1147C>A (p.Leu383Met) c.1129C>A (p.Leu377Met) | |
| 11 | g.47343569C>A | CA474220545 | MYBPC3 | c.1146G>T (p.Arg382=) c.1128G>T (p.Arg376=) | dbSNP gnomAD v2 |
| 11 | g.47343569C= | CA1969337215 | MYBPC3 | c.1146G= (p.Arg382=) c.1128G= (p.Arg376=) | |
| 11 | g.47343569C>G | CA474220546 | MYBPC3 | c.1146G>C (p.Arg382=) c.1128G>C (p.Arg376=) | |
| 11 | g.47343569C>T | CA474220548 | MYBPC3 | c.1146G>A (p.Arg382=) c.1128G>A (p.Arg376=) | |
| 11 | g.47343570C>A | CA380328976 | MYBPC3 | c.1145G>T (p.Arg382Leu) c.1127G>T (p.Arg376Leu) | |
| 11 | g.47343570C= | CA1969337217 | MYBPC3 | c.1145G= (p.Arg382=) c.1127G= (p.Arg376=) | |
| 11 | g.47343570C>G | CA380328981 | MYBPC3 | c.1145G>C (p.Arg382Pro) c.1127G>C (p.Arg376Pro) | |
| 11 | g.47343570C>T | CA5975380 | MYBPC3 | c.1145G>A (p.Arg382Gln) c.1127G>A (p.Arg376Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343570_47343571delinsCG | CA1969337219 | MYBPC3 | c.1144_1145delinsCG (p.Arg382=) c.1126_1127delinsCG (p.Arg376=) | |
| 11 | g.47343571G>A | CA009811 | MYBPC3 | c.1144C>T (p.Arg382Trp) c.1126C>T (p.Arg376Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343571G>C | CA380329005 | MYBPC3 | c.1144C>G (p.Arg382Gly) c.1126C>G (p.Arg376Gly) | ClinVar dbSNP |
| 11 | g.47343571G= | CA1969337221 | MYBPC3 | c.1144C= (p.Arg382=) c.1126C= (p.Arg376=) | |
| 11 | g.47343571G>T | CA474220553 | MYBPC3 | c.1144C>A (p.Arg382=) c.1126C>A (p.Arg376=) | |
| 11 | g.47343572del | CA5975379 | MYBPC3 | c.1144del (p.Arg382GlyfsTer2) c.1126del (p.Arg376GlyfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343572G>A | CA474220554 | MYBPC3 | c.1143C>T (p.Ile381=) c.1125C>T (p.Ile375=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343572G>C | CA380329012 | MYBPC3 | c.1143C>G (p.Ile381Met) c.1125C>G (p.Ile375Met) | |
| 11 | g.47343572G= | CA1969337223 | MYBPC3 | c.1143C= (p.Ile381=) c.1125C= (p.Ile375=) | |
| 11 | g.47343572G>T | CA474220555 | MYBPC3 | c.1143C>A (p.Ile381=) c.1125C>A (p.Ile375=) | ClinVar dbSNP |
| 11 | g.47343572_47343573dup | CA5975381 | MYBPC3 | c.1142_1143dup (p.Arg382SerfsTer3) c.1124_1125dup (p.Arg376SerfsTer3) | dbSNP ExAC gnomAD v2 |
| 11 | g.47343573A= | CA1969337225 | MYBPC3 | c.1142T= (p.Ile381=) c.1124T= (p.Ile375=) | |
| 11 | g.47343573A>C | CA380329036 | MYBPC3 | c.1142T>G (p.Ile381Ser) c.1124T>G (p.Ile375Ser) | |
| 11 | g.47343573A>G | CA380329039 | MYBPC3 | c.1142T>C (p.Ile381Thr) c.1124T>C (p.Ile375Thr) | |
| 11 | g.47343573A>T | CA380329042 | MYBPC3 | c.1142T>A (p.Ile381Asn) c.1124T>A (p.Ile375Asn) | ClinVar dbSNP |
| 11 | g.47343574T>A | CA380329064 | MYBPC3 | c.1141A>T (p.Ile381Phe) c.1123A>T (p.Ile375Phe) | |
| 11 | g.47343574T>C | CA380329058 | MYBPC3 | c.1141A>G (p.Ile381Val) c.1123A>G (p.Ile375Val) | |
| 11 | g.47343574T>G | CA380329061 | MYBPC3 | c.1141A>C (p.Ile381Leu) c.1123A>C (p.Ile375Leu) | |
| 11 | g.47343575C>A | CA380329071 | MYBPC3 | c.1140G>T (p.Lys380Asn) c.1122G>T (p.Lys374Asn) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343575C= | CA1969337227 | MYBPC3 | c.1140G= (p.Lys380=) c.1122G= (p.Lys374=) | |
| 11 | g.47343575C>G | CA380329075 | MYBPC3 | c.1140G>C (p.Lys380Asn) c.1122G>C (p.Lys374Asn) | |
| 11 | g.47343575C>T | CA474220558 | MYBPC3 | c.1140G>A (p.Lys380=) c.1122G>A (p.Lys374=) | |
| 11 | g.47343576T>A | CA380329082 | MYBPC3 | c.1139A>T (p.Lys380Met) c.1121A>T (p.Lys374Met) | COSMIC COSMIC |
| 11 | g.47343576T>C | CA380329084 | MYBPC3 | c.1139A>G (p.Lys380Arg) c.1121A>G (p.Lys374Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343576T>G | CA380329086 | MYBPC3 | c.1139A>C (p.Lys380Thr) c.1121A>C (p.Lys374Thr) | |
| 11 | g.47343576T= | CA1969337230 | MYBPC3 | c.1139A= (p.Lys380=) c.1121A= (p.Lys374=) | |
| 11 | g.47343577T>A | CA380329102 | MYBPC3 | c.1138A>T (p.Lys380Ter) c.1120A>T (p.Lys374Ter) | |
| 11 | g.47343577T>C | CA380329093 | MYBPC3 | c.1138A>G (p.Lys380Glu) c.1120A>G (p.Lys374Glu) | ClinVar |
| 11 | g.47343577T>G | CA380329090 | MYBPC3 | c.1138A>C (p.Lys380Gln) c.1120A>C (p.Lys374Gln) | |
| 11 | g.47343578G>A | CA474220563 | MYBPC3 | c.1137C>T (p.His379=) c.1119C>T (p.His373=) | |
| 11 | g.47343578G>C | CA380329104 | MYBPC3 | c.1137C>G (p.His379Gln) c.1119C>G (p.His373Gln) | |
| 11 | g.47343578G>T | CA380329107 | MYBPC3 | c.1137C>A (p.His379Gln) c.1119C>A (p.His373Gln) | |
| 11 | g.47343579T>A | CA380329121 | MYBPC3 | c.1136A>T (p.His379Leu) c.1118A>T (p.His373Leu) | |
| 11 | g.47343579T>C | CA380329128 | MYBPC3 | c.1136A>G (p.His379Arg) c.1118A>G (p.His373Arg) | |
| 11 | g.47343579T>G | CA380329125 | MYBPC3 | c.1136A>C (p.His379Pro) c.1118A>C (p.His373Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343579T= | CA1969337232 | MYBPC3 | c.1136A= (p.His379=) c.1118A= (p.His373=) | |
| 11 | g.47343580G>A | CA380329130 | MYBPC3 | c.1135C>T (p.His379Tyr) c.1117C>T (p.His373Tyr) | |
| 11 | g.47343580G>C | CA380329134 | MYBPC3 | c.1135C>G (p.His379Asp) c.1117C>G (p.His373Asp) | |
| 11 | g.47343580G>T | CA380329138 | MYBPC3 | c.1135C>A (p.His379Asn) c.1117C>A (p.His373Asn) | |
| 11 | g.47343581G>A | CA474220566 | MYBPC3 | c.1134C>T (p.Gly378=) c.1116C>T (p.Gly372=) | |
| 11 | g.47343581G>C | CA474220567 | MYBPC3 | c.1134C>G (p.Gly378=) c.1116C>G (p.Gly372=) | |
| 11 | g.47343581G>T | CA474220568 | MYBPC3 | c.1134C>A (p.Gly378=) c.1116C>A (p.Gly372=) | |
| 11 | g.47343582C>A | CA380329142 | MYBPC3 | c.1133G>T (p.Gly378Val) c.1115G>T (p.Gly372Val) | |
| 11 | g.47343582C= | CA1969337234 | MYBPC3 | c.1133G= (p.Gly378=) c.1115G= (p.Gly372=) | |
| 11 | g.47343582C>G | CA042850 | MYBPC3 | c.1133G>C (p.Gly378Ala) c.1115G>C (p.Gly372Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343582C>T | CA380329149 | MYBPC3 | c.1133G>A (p.Gly378Asp) c.1115G>A (p.Gly372Asp) | |
| 11 | g.47343583C>A | CA380329155 | MYBPC3 | c.1132G>T (p.Gly378Cys) c.1114G>T (p.Gly372Cys) | |
| 11 | g.47343583C>G | CA380329157 | MYBPC3 | c.1132G>C (p.Gly378Arg) c.1114G>C (p.Gly372Arg) | |
| 11 | g.47343583C>T | CA380329161 | MYBPC3 | c.1132G>A (p.Gly378Ser) c.1114G>A (p.Gly372Ser) | |
| 11 | g.47343584T>A | CA380329166 | MYBPC3 | c.1131A>T (p.Lys377Asn) c.1113A>T (p.Lys371Asn) | |
| 11 | g.47343584T>C | CA474220574 | MYBPC3 | c.1131A>G (p.Lys377=) c.1113A>G (p.Lys371=) | dbSNP |
| 11 | g.47343584T>G | CA380329170 | MYBPC3 | c.1131A>C (p.Lys377Asn) c.1113A>C (p.Lys371Asn) | |
| 11 | g.47343584T= | CA1969337236 | MYBPC3 | c.1131A= (p.Lys377=) c.1113A= (p.Lys371=) | |
| 11 | g.47343586del | CA2613407173 | MYBPC3 | c.1131del (p.Gly378AlafsTer6) c.1113del (p.Gly372AlafsTer6) | gnomAD v4 |
| 11 | g.47343585T>A | CA380329183 | MYBPC3 | c.1130A>T (p.Lys377Ile) c.1112A>T (p.Lys371Ile) | |
| 11 | g.47343585T>C | CA380329181 | MYBPC3 | c.1130A>G (p.Lys377Arg) c.1112A>G (p.Lys371Arg) | |
| 11 | g.47343585T>G | CA380329178 | MYBPC3 | c.1130A>C (p.Lys377Thr) c.1112A>C (p.Lys371Thr) | |
| 11 | g.47343585T= | CA1969337237 | MYBPC3 | c.1130A= (p.Lys377=) c.1112A= (p.Lys371=) | |
| 11 | g.47343586T>A | CA380329192 | MYBPC3 | c.1129A>T (p.Lys377Ter) c.1111A>T (p.Lys371Ter) | |
| 11 | g.47343586T>C | CA380329193 | MYBPC3 | c.1129A>G (p.Lys377Glu) c.1111A>G (p.Lys371Glu) | |
| 11 | g.47343586T>G | CA380329196 | MYBPC3 | c.1129A>C (p.Lys377Gln) c.1111A>C (p.Lys371Gln) | |
| 11 | g.47343586_47343587delinsTG | CA1969337239 | MYBPC3 | c.1128_1129delinsCA (p.Ser376=) c.1110_1111delinsCA (p.Ser370=) | |
| 11 | g.47343587_47343615dup | CA913190287 | MYBPC3 | c.1101_1129dup (p.Lys377ArgfsTer9) c.1083_1111dup (p.Lys371ArgfsTer9) | ClinVar dbSNP |
| 11 | g.47343587del | CA1139661936 | MYBPC3 | c.1128del (p.Ser376ArgfsTer8) c.1110del (p.Ser370ArgfsTer8) | ClinVar dbSNP |
| 11 | g.47343587G>A | CA474220576 | MYBPC3 | c.1128C>T (p.Ser376=) c.1110C>T (p.Ser370=) | |
| 11 | g.47343587G>C | CA380329199 | MYBPC3 | c.1128C>G (p.Ser376Arg) c.1110C>G (p.Ser370Arg) | |
| 11 | g.47343587G= | CA1969337242 | MYBPC3 | c.1128C= (p.Ser376=) c.1110C= (p.Ser370=) | |
| 11 | g.47343587G>T | CA380329207 | MYBPC3 | c.1128C>A (p.Ser376Arg) c.1110C>A (p.Ser370Arg) | ClinVar dbSNP |
| 11 | g.47343588C>A | CA380329213 | MYBPC3 | c.1127G>T (p.Ser376Ile) c.1109G>T (p.Ser370Ile) | |
| 11 | g.47343588C= | CA1969337244 | MYBPC3 | c.1127G= (p.Ser376=) c.1109G= (p.Ser370=) | |
| 11 | g.47343588C>G | CA380329216 | MYBPC3 | c.1127G>C (p.Ser376Thr) c.1109G>C (p.Ser370Thr) | |
| 11 | g.47343588C>T | CA380329224 | MYBPC3 | c.1127G>A (p.Ser376Asn) c.1109G>A (p.Ser370Asn) | dbSNP |
| 11 | g.47343589T>A | CA380329230 | MYBPC3 | c.1126A>T (p.Ser376Cys) c.1108A>T (p.Ser370Cys) | |
| 11 | g.47343589T>C | CA380329233 | MYBPC3 | c.1126A>G (p.Ser376Gly) c.1108A>G (p.Ser370Gly) | |
| 11 | g.47343589T>G | CA380329236 | MYBPC3 | c.1126A>C (p.Ser376Arg) c.1108A>C (p.Ser370Arg) | |
| 11 | g.47343590C>A | CA474220579 | MYBPC3 | c.1125G>T (p.Val375=) c.1107G>T (p.Val369=) | |
| 11 | g.47343590C= | CA1969337245 | MYBPC3 | c.1125G= (p.Val375=) c.1107G= (p.Val369=) | |
| 11 | g.47343590C>G | CA474220581 | MYBPC3 | c.1125G>C (p.Val375=) c.1107G>C (p.Val369=) | |
| 11 | g.47343590C>T | CA474220583 | MYBPC3 | c.1125G>A (p.Val375=) c.1107G>A (p.Val369=) | dbSNP |
| 11 | g.47343591A= | CA1969337249 | MYBPC3 | c.1124T= (p.Val375=) c.1106T= (p.Val369=) | |
| 11 | g.47343591A>C | CA380329247 | MYBPC3 | c.1124T>G (p.Val375Gly) c.1106T>G (p.Val369Gly) | |
| 11 | g.47343591A>G | CA380329244 | MYBPC3 | c.1124T>C (p.Val375Ala) c.1106T>C (p.Val369Ala) | |
| 11 | g.47343591A>T | CA380329240 | MYBPC3 | c.1124T>A (p.Val375Glu) c.1106T>A (p.Val369Glu) | ClinVar dbSNP |
| 11 | g.47343592C>A | CA380329258 | MYBPC3 | c.1123G>T (p.Val375Leu) c.1105G>T (p.Val369Leu) | |
| 11 | g.47343592C= | CA1969337363 | MYBPC3 | c.1123G= (p.Val375=) c.1105G= (p.Val369=) | |
| 11 | g.47343592C>G | CA380329260 | MYBPC3 | c.1123G>C (p.Val375Leu) c.1105G>C (p.Val369Leu) | |
| 11 | g.47343592C>T | CA009805 | MYBPC3 | c.1123G>A (p.Val375Met) c.1105G>A (p.Val369Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |