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.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) |