| 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.47343057_47343068del | CA2613404782 | MYBPC3 | c.1304_1315del (p.Gln435_Gly439delinsArg) c.1286_1297del (p.Gln429_Gly433delinsArg) | gnomAD v4 |
| 11 | g.47343063C>A | CA077983 | MYBPC3 | c.1309G>T (p.Val437Leu) c.1291G>T (p.Val431Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343063C= | CA1969336663 | MYBPC3 | c.1309G= (p.Val437=) c.1291G= (p.Val431=) | |
| 11 | g.47343063C>G | CA380327073 | MYBPC3 | c.1309G>C (p.Val437Leu) c.1291G>C (p.Val431Leu) | |
| 11 | g.47343063C>T | CA010060 | MYBPC3 | c.1309G>A (p.Val437Met) c.1291G>A (p.Val431Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47343064G>A | CA077979 | MYBPC3 | c.1308C>T (p.Cys436=) c.1290C>T (p.Cys430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.47343064G>C | CA380327084 | MYBPC3 | c.1308C>G (p.Cys436Trp) c.1290C>G (p.Cys430Trp) | |
| 11 | g.47343064G= | CA1969336669 | MYBPC3 | c.1308C= (p.Cys436=) c.1290C= (p.Cys430=) | |
| 11 | g.47343064G>T | CA380327087 | MYBPC3 | c.1308C>A (p.Cys436Ter) c.1290C>A (p.Cys430Ter) | ClinVar |
| 11 | g.47343065C>A | CA380327091 | MYBPC3 | c.1307G>T (p.Cys436Phe) c.1289G>T (p.Cys430Phe) | |
| 11 | g.47343065C>G | CA380327094 | MYBPC3 | c.1307G>C (p.Cys436Ser) c.1289G>C (p.Cys430Ser) | |
| 11 | g.47343065C>T | CA380327100 | MYBPC3 | c.1307G>A (p.Cys436Tyr) c.1289G>A (p.Cys430Tyr) | |
| 11 | g.47343066A= | CA1969336674 | MYBPC3 | c.1306T= (p.Cys436=) c.1288T= (p.Cys430=) | |
| 11 | g.47343066A>C | CA380327104 | MYBPC3 | c.1306T>G (p.Cys436Gly) c.1288T>G (p.Cys430Gly) | dbSNP |
| 11 | g.47343066A>G | CA380327105 | MYBPC3 | c.1306T>C (p.Cys436Arg) c.1288T>C (p.Cys430Arg) | |
| 11 | g.47343066A>T | CA380327106 | MYBPC3 | c.1306T>A (p.Cys436Ser) c.1288T>A (p.Cys430Ser) | |
| 11 | g.47343067C>A | CA380327113 | MYBPC3 | c.1305G>T (p.Gln435His) c.1287G>T (p.Gln429His) | ClinVar |
| 11 | g.47343067C= | CA1969336678 | MYBPC3 | c.1305G= (p.Gln435=) c.1287G= (p.Gln429=) | |
| 11 | g.47343067C>G | CA380327125 | MYBPC3 | c.1305G>C (p.Gln435His) c.1287G>C (p.Gln429His) | |
| 11 | g.47343067C>T | CA077976 | MYBPC3 | c.1305G>A (p.Gln435=) c.1287G>A (p.Gln429=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343068T>A | CA380327130 | MYBPC3 | c.1304A>T (p.Gln435Leu) c.1286A>T (p.Gln429Leu) | |
| 11 | g.47343068T>C | CA380327134 | MYBPC3 | c.1304A>G (p.Gln435Arg) c.1286A>G (p.Gln429Arg) | |
| 11 | g.47343068T>G | CA380327135 | MYBPC3 | c.1304A>C (p.Gln435Pro) c.1286A>C (p.Gln429Pro) | |
| 11 | g.47343069G>A | CA380327136 | MYBPC3 | c.1303C>T (p.Gln435Ter) c.1285C>T (p.Gln429Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343069G>C | CA380327139 | MYBPC3 | c.1303C>G (p.Gln435Glu) c.1285C>G (p.Gln429Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343069G= | CA1969336681 | MYBPC3 | c.1303C= (p.Gln435=) c.1285C= (p.Gln429=) | |
| 11 | g.47343069G>T | CA380327141 | MYBPC3 | c.1303C>A (p.Gln435Lys) c.1285C>A (p.Gln429Lys) | |
| 11 | g.47343070G>A | CA077974 | MYBPC3 | c.1302C>T (p.Tyr434=) c.1284C>T (p.Tyr428=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343070G>C | CA380327146 | MYBPC3 | c.1302C>G (p.Tyr434Ter) c.1284C>G (p.Tyr428Ter) | ClinVar |
| 11 | g.47343070G= | CA1969336689 | MYBPC3 | c.1302C= (p.Tyr434=) c.1284C= (p.Tyr428=) | |
| 11 | g.47343070G>T | CA044146 | MYBPC3 | c.1302C>A (p.Tyr434Ter) c.1284C>A (p.Tyr428Ter) | ClinVar dbSNP |
| 11 | g.47343071T>A | CA380327156 | MYBPC3 | c.1301A>T (p.Tyr434Phe) c.1283A>T (p.Tyr428Phe) | |
| 11 | g.47343071T>C | CA380327161 | MYBPC3 | c.1301A>G (p.Tyr434Cys) c.1283A>G (p.Tyr428Cys) | |
| 11 | g.47343071T>G | CA380327165 | MYBPC3 | c.1301A>C (p.Tyr434Ser) c.1283A>C (p.Tyr428Ser) | gnomAD v4 |
| 11 | g.47343072A>C | CA380327170 | MYBPC3 | c.1300T>G (p.Tyr434Asp) c.1282T>G (p.Tyr428Asp) | |
| 11 | g.47343072A>G | CA380327193 | MYBPC3 | c.1300T>C (p.Tyr434His) c.1282T>C (p.Tyr428His) | ClinVar |
| 11 | g.47343072A>T | CA380327198 | MYBPC3 | c.1300T>A (p.Tyr434Asn) c.1282T>A (p.Tyr428Asn) | |
| 11 | g.47343073G>A | CA044108 | MYBPC3 | c.1299C>T (p.Ala433=) c.1281C>T (p.Ala427=) | |
| 11 | g.47343073G>C | CA474429545 | MYBPC3 | c.1299C>G (p.Ala433=) c.1281C>G (p.Ala427=) | |
| 11 | g.47343073G>T | CA474429547 | MYBPC3 | c.1299C>A (p.Ala433=) c.1281C>A (p.Ala427=) | |
| 11 | g.47343073_47343076delinsGGCT | CA1969336698 | MYBPC3 | c.1296_1299delinsAGCC (p.Ala432=) c.1278_1281delinsAGCC (p.Ala426=) | |
| 11 | g.47343074G>A | CA380327205 | MYBPC3 | c.1298C>T (p.Ala433Val) c.1280C>T (p.Ala427Val) | dbSNP gnomAD v2 |
| 11 | g.47343074G>C | CA380327212 | MYBPC3 | c.1298C>G (p.Ala433Gly) c.1280C>G (p.Ala427Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343074G= | CA1969336702 | MYBPC3 | c.1298C= (p.Ala433=) c.1280C= (p.Ala427=) | |
| 11 | g.47343074G>T | CA380327207 | MYBPC3 | c.1298C>A (p.Ala433Asp) c.1280C>A (p.Ala427Asp) | |
| 11 | g.47343076_47343078del | CA937655767 | MYBPC3 | c.1296_1298del (p.Ala433del) c.1278_1280del (p.Ala427del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343074_47343095del | CA2580084277 | MYBPC3 | c.1277_1298del (p.Cys426SerfsTer17) c.1259_1280del (p.Cys420SerfsTer17) | ClinVar |
| 11 | g.47343075C>A | CA380327221 | MYBPC3 | c.1297G>T (p.Ala433Ser) c.1279G>T (p.Ala427Ser) | |
| 11 | g.47343075C= | CA1969336705 | MYBPC3 | c.1297G= (p.Ala433=) c.1279G= (p.Ala427=) | |
| 11 | g.47343075C>G | CA380327224 | MYBPC3 | c.1297G>C (p.Ala433Pro) c.1279G>C (p.Ala427Pro) | |
| 11 | g.47343075C>T | CA380327226 | MYBPC3 | c.1297G>A (p.Ala433Thr) c.1279G>A (p.Ala427Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47343076T>A | CA221696845 | MYBPC3 | c.1296A>T (p.Ala432=) c.1278A>T (p.Ala426=) | dbSNP |
| 11 | g.47343076T>C | CA474429550 | MYBPC3 | c.1296A>G (p.Ala432=) c.1278A>G (p.Ala426=) | |
| 11 | g.47343076T>G | CA474429549 | MYBPC3 | c.1296A>C (p.Ala432=) c.1278A>C (p.Ala426=) | ClinVar dbSNP |
| 11 | g.47343076T= | CA1969336711 | MYBPC3 | c.1296A= (p.Ala432=) c.1278A= (p.Ala426=) | |
| 11 | g.47343077G>A | CA380327236 | MYBPC3 | c.1295C>T (p.Ala432Val) c.1277C>T (p.Ala426Val) | |
| 11 | g.47343077G>C | CA380327239 | MYBPC3 | c.1295C>G (p.Ala432Gly) c.1277C>G (p.Ala426Gly) | |
| 11 | g.47343077G>T | CA380327247 | MYBPC3 | c.1295C>A (p.Ala432Glu) c.1277C>A (p.Ala426Glu) | |
| 11 | g.47343078C>A | CA380327255 | MYBPC3 | c.1294G>T (p.Ala432Ser) c.1276G>T (p.Ala426Ser) | dbSNP |
| 11 | g.47343078C= | CA1969336716 | MYBPC3 | c.1294G= (p.Ala432=) c.1276G= (p.Ala426=) | |
| 11 | g.47343078C>G | CA380327259 | MYBPC3 | c.1294G>C (p.Ala432Pro) c.1276G>C (p.Ala426Pro) | ClinVar |
| 11 | g.47343078C>T | CA010045 | MYBPC3 | c.1294G>A (p.Ala432Thr) c.1276G>A (p.Ala426Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343079del | CA2695213914 | MYBPC3 | c.1293del (p.Asp431GlufsTer19) c.1275del (p.Asp425GlufsTer19) | |
| 11 | g.47343079G>A | CA077970 | MYBPC3 | c.1293C>T (p.Asp431=) c.1275C>T (p.Asp425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343079G>C | CA380327269 | MYBPC3 | c.1293C>G (p.Asp431Glu) c.1275C>G (p.Asp425Glu) | |
| 11 | g.47343079G= | CA1969336726 | MYBPC3 | c.1293C= (p.Asp431=) c.1275C= (p.Asp425=) | |
| 11 | g.47343079G>T | CA16613588 | MYBPC3 | c.1293C>A (p.Asp431Glu) c.1275C>A (p.Asp425Glu) | ClinVar dbSNP |
| 11 | g.47343079_47343080delinsTG | CA2573147071 | MYBPC3 | c.1292_1293delinsCA (p.Asp431Ala) c.1274_1275delinsCA (p.Asp425Ala) | ClinVar dbSNP |
| 11 | g.47343080T>A | CA380327279 | MYBPC3 | c.1292A>T (p.Asp431Val) c.1274A>T (p.Asp425Val) | |
| 11 | g.47343080T>C | CA380327289 | MYBPC3 | c.1292A>G (p.Asp431Gly) c.1274A>G (p.Asp425Gly) | |
| 11 | g.47343080T>G | CA380327282 | MYBPC3 | c.1292A>C (p.Asp431Ala) c.1274A>C (p.Asp425Ala) | |
| 11 | g.47343081C>A | CA380327293 | MYBPC3 | c.1291G>T (p.Asp431Tyr) c.1273G>T (p.Asp425Tyr) | dbSNP gnomAD v2 |
| 11 | g.47343081C= | CA1969336733 | MYBPC3 | c.1291G= (p.Asp431=) c.1273G= (p.Asp425=) | |
| 11 | g.47343081C>G | CA380327300 | MYBPC3 | c.1291G>C (p.Asp431His) c.1273G>C (p.Asp425His) | ClinVar |
| 11 | g.47343081C>T | CA044090 | MYBPC3 | c.1291G>A (p.Asp431Asn) c.1273G>A (p.Asp425Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343082G>A | CA010037 | MYBPC3 | c.1290C>T (p.Asp430=) c.1272C>T (p.Asp424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47343082G>C | CA380327312 | MYBPC3 | c.1290C>G (p.Asp430Glu) c.1272C>G (p.Asp424Glu) | |
| 11 | g.47343082G= | CA1969336741 | MYBPC3 | c.1290C= (p.Asp430=) c.1272C= (p.Asp424=) | |
| 11 | g.47343082G>T | CA380327317 | MYBPC3 | c.1290C>A (p.Asp430Glu) c.1272C>A (p.Asp424Glu) | |
| 11 | g.47343083T>A | CA380327322 | MYBPC3 | c.1289A>T (p.Asp430Val) c.1271A>T (p.Asp424Val) | |
| 11 | g.47343083T>C | CA380327327 | MYBPC3 | c.1289A>G (p.Asp430Gly) c.1271A>G (p.Asp424Gly) | |
| 11 | g.47343083T>G | CA380327329 | MYBPC3 | c.1289A>C (p.Asp430Ala) c.1271A>C (p.Asp424Ala) | |
| 11 | g.47343084C>A | CA380327332 | MYBPC3 | c.1288G>T (p.Asp430Tyr) c.1270G>T (p.Asp424Tyr) | |
| 11 | g.47343084C= | CA1969336746 | MYBPC3 | c.1288G= (p.Asp430=) c.1270G= (p.Asp424=) | |
| 11 | g.47343084C>G | CA380327335 | MYBPC3 | c.1288G>C (p.Asp430His) c.1270G>C (p.Asp424His) | |
| 11 | g.47343084C>T | CA010027 | MYBPC3 | c.1288G>A (p.Asp430Asn) c.1270G>A (p.Asp424Asn) | ClinVar dbSNP |
| 11 | g.47343085C>A | CA474429384 | MYBPC3 | c.1287G>T (p.Ala429=) c.1269G>T (p.Ala423=) | |
| 11 | g.47343085C= | CA1969336751 | MYBPC3 | c.1287G= (p.Ala429=) c.1269G= (p.Ala423=) | |
| 11 | g.47343085C>G | CA474429385 | MYBPC3 | c.1287G>C (p.Ala429=) c.1269G>C (p.Ala423=) | gnomAD v4 |
| 11 | g.47343085C>T | CA077966 | MYBPC3 | c.1287G>A (p.Ala429=) c.1269G>A (p.Ala423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47343086G>A | CA010019 | MYBPC3 | c.1286C>T (p.Ala429Val) c.1268C>T (p.Ala423Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343086G>C | CA380327347 | MYBPC3 | c.1286C>G (p.Ala429Gly) c.1268C>G (p.Ala423Gly) | |
| 11 | g.47343086G= | CA1969336758 | MYBPC3 | c.1286C= (p.Ala429=) c.1268C= (p.Ala423=) | |
| 11 | g.47343086G>T | CA010012 | MYBPC3 | c.1286C>A (p.Ala429Glu) c.1268C>A (p.Ala423Glu) | ClinVar dbSNP |
| 11 | g.47343087C>A | CA380327351 | MYBPC3 | c.1285G>T (p.Ala429Ser) c.1267G>T (p.Ala423Ser) | gnomAD v4 |
| 11 | g.47343087C= | CA1969336762 | MYBPC3 | c.1285G= (p.Ala429=) c.1267G= (p.Ala423=) | |
| 11 | g.47343087C>G | CA380327352 | MYBPC3 | c.1285G>C (p.Ala429Pro) c.1267G>C (p.Ala423Pro) | |
| 11 | g.47343087C>T | CA380327354 | MYBPC3 | c.1285G>A (p.Ala429Thr) c.1267G>A (p.Ala423Thr) | dbSNP |
| 11 | g.47343088del | CA2580617705 | MYBPC3 | c.1285del (p.Ala429ArgfsTer21) c.1267del (p.Ala423ArgfsTer21) | ClinVar |
| 11 | g.47343088C>A | CA380327362 | MYBPC3 | c.1284G>T (p.Leu428Phe) c.1266G>T (p.Leu422Phe) | |
| 11 | g.47343088C>G | CA380327365 | MYBPC3 | c.1284G>C (p.Leu428Phe) c.1266G>C (p.Leu422Phe) | |
| 11 | g.47343088C>T | CA044041 | MYBPC3 | c.1284G>A (p.Leu428=) c.1266G>A (p.Leu422=) | |
| 11 | g.47343089A>C | CA380327380 | MYBPC3 | c.1283T>G (p.Leu428Trp) c.1265T>G (p.Leu422Trp) | |
| 11 | g.47343089A>G | CA380327382 | MYBPC3 | c.1283T>C (p.Leu428Ser) c.1265T>C (p.Leu422Ser) | ClinVar |
| 11 | g.47343089A>T | CA380327387 | MYBPC3 | c.1283T>A (p.Leu428Ter) c.1265T>A (p.Leu422Ter) | |
| 11 | g.47343090A= | CA1969336770 | MYBPC3 | c.1282T= (p.Leu428=) c.1264T= (p.Leu422=) | |
| 11 | g.47343090A>C | CA380327391 | MYBPC3 | c.1282T>G (p.Leu428Val) c.1264T>G (p.Leu422Val) | |
| 11 | g.47343090A>G | CA077963 | MYBPC3 | c.1282T>C (p.Leu428=) c.1264T>C (p.Leu422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343090A>T | CA380327405 | MYBPC3 | c.1282T>A (p.Leu428Met) c.1264T>A (p.Leu422Met) | |
| 11 | g.47343093_47343106del | CA2499220976 | MYBPC3 | c.1269_1282del (p.Ser424GlyfsTer16) c.1251_1264del (p.Ser418GlyfsTer16) | ClinVar dbSNP |
| 11 | g.47343091T>A | CA474429387 | MYBPC3 | c.1281A>T (p.Ser427=) c.1263A>T (p.Ser421=) | gnomAD v4 |
| 11 | g.47343091T>C | CA077961 | MYBPC3 | c.1281A>G (p.Ser427=) c.1263A>G (p.Ser421=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343091T>G | CA474429386 | MYBPC3 | c.1281A>C (p.Ser427=) c.1263A>C (p.Ser421=) | |
| 11 | g.47343091T= | CA1969336774 | MYBPC3 | c.1281A= (p.Ser427=) c.1263A= (p.Ser421=) | |
| 11 | g.47343092G>A | CA380327413 | MYBPC3 | c.1280C>T (p.Ser427Leu) c.1262C>T (p.Ser421Leu) | |
| 11 | g.47343092G>C | CA380327420 | MYBPC3 | c.1280C>G (p.Ser427Ter) c.1262C>G (p.Ser421Ter) | |
| 11 | g.47343092G>T | CA380327416 | MYBPC3 | c.1280C>A (p.Ser427Ter) c.1262C>A (p.Ser421Ter) | ClinVar |
| 11 | g.47343093A>C | CA380327427 | MYBPC3 | c.1279T>G (p.Ser427Ala) c.1261T>G (p.Ser421Ala) | |
| 11 | g.47343093A>G | CA044015 | MYBPC3 | c.1279T>C (p.Ser427Pro) c.1261T>C (p.Ser421Pro) | |
| 11 | g.47343093A>T | CA380327432 | MYBPC3 | c.1279T>A (p.Ser427Thr) c.1261T>A (p.Ser421Thr) | |
| 11 | g.47343094G>A | CA077960 | MYBPC3 | c.1278C>T (p.Cys426=) c.1260C>T (p.Cys420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343094G>C | CA380327443 | MYBPC3 | c.1278C>G (p.Cys426Trp) c.1260C>G (p.Cys420Trp) | gnomAD v4 |
| 11 | g.47343094G= | CA1969336779 | MYBPC3 | c.1278C= (p.Cys426=) c.1260C= (p.Cys420=) | |
| 11 | g.47343094G>T | CA380327444 | MYBPC3 | c.1278C>A (p.Cys426Ter) c.1260C>A (p.Cys420Ter) | ClinVar dbSNP |
| 11 | g.47343095C>A | CA380327445 | MYBPC3 | c.1277G>T (p.Cys426Phe) c.1259G>T (p.Cys420Phe) | |
| 11 | g.47343095C>G | CA380327448 | MYBPC3 | c.1277G>C (p.Cys426Ser) c.1259G>C (p.Cys420Ser) | |
| 11 | g.47343095C>T | CA380327452 | MYBPC3 | c.1277G>A (p.Cys426Tyr) c.1259G>A (p.Cys420Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343096A>C | CA380327457 | MYBPC3 | c.1276T>G (p.Cys426Gly) c.1258T>G (p.Cys420Gly) | |
| 11 | g.47343096A>G | CA380327462 | MYBPC3 | c.1276T>C (p.Cys426Arg) c.1258T>C (p.Cys420Arg) | |
| 11 | g.47343096A>T | CA380327468 | MYBPC3 | c.1276T>A (p.Cys426Ser) c.1258T>A (p.Cys420Ser) | |
| 11 | g.47343097C>A | CA380327470 | MYBPC3 | c.1275G>T (p.Gln425His) c.1257G>T (p.Gln419His) | |
| 11 | g.47343097C>G | CA380327475 | MYBPC3 | c.1275G>C (p.Gln425His) c.1257G>C (p.Gln419His) | |
| 11 | g.47343097C>T | CA474429388 | MYBPC3 | c.1275G>A (p.Gln425=) c.1257G>A (p.Gln419=) | |
| 11 | g.47343098T>A | CA221696946 | MYBPC3 | c.1274A>T (p.Gln425Leu) c.1256A>T (p.Gln419Leu) | dbSNP |
| 11 | g.47343098T>C | CA380327486 | MYBPC3 | c.1274A>G (p.Gln425Arg) c.1256A>G (p.Gln419Arg) | |
| 11 | g.47343098T>G | CA380327484 | MYBPC3 | c.1274A>C (p.Gln425Pro) c.1256A>C (p.Gln419Pro) | gnomAD v4 |
| 11 | g.47343098T= | CA1969336781 | MYBPC3 | c.1274A= (p.Gln425=) c.1256A= (p.Gln419=) | |
| 11 | g.47343099G>A | CA010005 | MYBPC3 | c.1273C>T (p.Gln425Ter) c.1255C>T (p.Gln419Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343099G>C | CA380327496 | MYBPC3 | c.1273C>G (p.Gln425Glu) c.1255C>G (p.Gln419Glu) | |
| 11 | g.47343099G= | CA1969336786 | MYBPC3 | c.1273C= (p.Gln425=) c.1255C= (p.Gln419=) | |
| 11 | g.47343099G>T | CA380327501 | MYBPC3 | c.1273C>A (p.Gln425Lys) c.1255C>A (p.Gln419Lys) | |
| 11 | g.47343100G>A | CA474429389 | MYBPC3 | c.1272C>T (p.Ser424=) c.1254C>T (p.Ser418=) | |
| 11 | g.47343100G>C | CA380327507 | MYBPC3 | c.1272C>G (p.Ser424Arg) c.1254C>G (p.Ser418Arg) | |
| 11 | g.47343100G>T | CA380327512 | MYBPC3 | c.1272C>A (p.Ser424Arg) c.1254C>A (p.Ser418Arg) | |
| 11 | g.47343101C>A | CA380327533 | MYBPC3 | c.1271G>T (p.Ser424Ile) c.1253G>T (p.Ser418Ile) | gnomAD v4 |
| 11 | g.47343101C= | CA1969336790 | MYBPC3 | c.1271G= (p.Ser424=) c.1253G= (p.Ser418=) | |
| 11 | g.47343101C>G | CA380327535 | MYBPC3 | c.1271G>C (p.Ser424Thr) c.1253G>C (p.Ser418Thr) | |
| 11 | g.47343101C>T | CA380327539 | MYBPC3 | c.1271G>A (p.Ser424Asn) c.1253G>A (p.Ser418Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343102T>A | CA380327544 | MYBPC3 | c.1270A>T (p.Ser424Cys) c.1252A>T (p.Ser418Cys) | ClinVar dbSNP |
| 11 | g.47343102T>C | CA380327547 | MYBPC3 | c.1270A>G (p.Ser424Gly) c.1252A>G (p.Ser418Gly) | |
| 11 | g.47343102T>G | CA380327549 | MYBPC3 | c.1270A>C (p.Ser424Arg) c.1252A>C (p.Ser418Arg) | |
| 11 | g.47343102T= | CA1969336794 | MYBPC3 | c.1270A= (p.Ser424=) c.1252A= (p.Ser418=) | |
| 11 | g.47343102dup | CA2573051155 | MYBPC3 | c.1270dup (p.Ser424LysfsTer21) c.1252dup (p.Ser418LysfsTer21) | |
| 11 | g.47343103G>A | CA474429390 | MYBPC3 | c.1269C>T (p.Ile423=) c.1251C>T (p.Ile417=) | |
| 11 | g.47343103G>C | CA380327554 | MYBPC3 | c.1269C>G (p.Ile423Met) c.1251C>G (p.Ile417Met) | |
| 11 | g.47343103G>T | CA474429391 | MYBPC3 | c.1269C>A (p.Ile423=) c.1251C>A (p.Ile417=) | |
| 11 | g.47343104A>C | CA380327562 | MYBPC3 | c.1268T>G (p.Ile423Ser) c.1250T>G (p.Ile417Ser) | |
| 11 | g.47343104A>G | CA380327560 | MYBPC3 | c.1268T>C (p.Ile423Thr) c.1250T>C (p.Ile417Thr) | |
| 11 | g.47343104A>T | CA380327558 | MYBPC3 | c.1268T>A (p.Ile423Asn) c.1250T>A (p.Ile417Asn) | |
| 11 | g.47343105T>A | CA380327565 | MYBPC3 | c.1267A>T (p.Ile423Phe) c.1249A>T (p.Ile417Phe) | |
| 11 | g.47343105T>C | CA380327566 | MYBPC3 | c.1267A>G (p.Ile423Val) c.1249A>G (p.Ile417Val) | |
| 11 | g.47343105T>G | CA380327568 | MYBPC3 | c.1267A>C (p.Ile423Leu) c.1249A>C (p.Ile417Leu) | |
| 11 | g.47343105T= | CA1969336796 | MYBPC3 | c.1267A= (p.Ile423=) c.1249A= (p.Ile417=) | |
| 11 | g.47343105_47343106insATCA | CA677001004 | MYBPC3 | c.1266_1267insTGAT (p.Ile423Ter) c.1248_1249insTGAT (p.Ile417Ter) | ClinVar dbSNP |
| 11 | g.47343106G>A | CA474429392 | MYBPC3 | c.1266C>T (p.Thr422=) c.1248C>T (p.Thr416=) | |
| 11 | g.47343106G>C | CA474429393 | MYBPC3 | c.1266C>G (p.Thr422=) c.1248C>G (p.Thr416=) | |
| 11 | g.47343106G>T | CA474429395 | MYBPC3 | c.1266C>A (p.Thr422=) c.1248C>A (p.Thr416=) | |
| 11 | g.47343107G>A | CA380327572 | MYBPC3 | c.1265C>T (p.Thr422Ile) c.1247C>T (p.Thr416Ile) | |
| 11 | g.47343107G>C | CA380327574 | MYBPC3 | c.1265C>G (p.Thr422Ser) c.1247C>G (p.Thr416Ser) | |
| 11 | g.47343107G>T | CA380327575 | MYBPC3 | c.1265C>A (p.Thr422Asn) c.1247C>A (p.Thr416Asn) | |
| 11 | g.47343108T>A | CA380327579 | MYBPC3 | c.1264A>T (p.Thr422Ser) c.1246A>T (p.Thr416Ser) | |
| 11 | g.47343108T>C | CA380327576 | MYBPC3 | c.1264A>G (p.Thr422Ala) c.1246A>G (p.Thr416Ala) | |
| 11 | g.47343108T>G | CA010000 | MYBPC3 | c.1264A>C (p.Thr422Pro) c.1246A>C (p.Thr416Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343108T= | CA1969336802 | MYBPC3 | c.1264A= (p.Thr422=) c.1246A= (p.Thr416=) | |
| 11 | g.47343109C>A | CA474429397 | MYBPC3 | c.1263G>T (p.Leu421=) c.1245G>T (p.Leu415=) | gnomAD v4 |
| 11 | g.47343109C>G | CA474429398 | MYBPC3 | c.1263G>C (p.Leu421=) c.1245G>C (p.Leu415=) | ClinVar |
| 11 | g.47343109C>T | CA474429399 | MYBPC3 | c.1263G>A (p.Leu421=) c.1245G>A (p.Leu415=) | |
| 11 | g.47343109_47343184del | CA2580084278 | MYBPC3 | c.1227-39_1263del c.1224-36_1263del c.1209-39_1245del | ClinVar |
| 11 | g.47343110A>C | CA380327581 | MYBPC3 | c.1262T>G (p.Leu421Arg) c.1244T>G (p.Leu415Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343110A>G | CA380327582 | MYBPC3 | c.1262T>C (p.Leu421Pro) c.1244T>C (p.Leu415Pro) | ClinVar |
| 11 | g.47343110A>T | CA380327584 | MYBPC3 | c.1262T>A (p.Leu421Gln) c.1244T>A (p.Leu415Gln) | |
| 11 | g.47343110dup | CA2613405007 | MYBPC3 | c.1262dup (p.Thr422AspfsTer23) c.1244dup (p.Thr416AspfsTer23) | gnomAD v4 |
| 11 | g.47343111G>A | CA474429403 | MYBPC3 | c.1261C>T (p.Leu421=) c.1243C>T (p.Leu415=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343111G>C | CA380327587 | MYBPC3 | c.1261C>G (p.Leu421Val) c.1243C>G (p.Leu415Val) | |
| 11 | g.47343111G= | CA1969336806 | MYBPC3 | c.1261C= (p.Leu421=) c.1243C= (p.Leu415=) | |
| 11 | g.47343111G>T | CA380327590 | MYBPC3 | c.1261C>A (p.Leu421Met) c.1243C>A (p.Leu415Met) | |
| 11 | g.47343112G>A | CA474429406 | MYBPC3 | c.1260C>T (p.Thr420=) c.1242C>T (p.Thr414=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343112G>C | CA474429409 | MYBPC3 | c.1260C>G (p.Thr420=) c.1242C>G (p.Thr414=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343112G= | CA1969336811 | MYBPC3 | c.1260C= (p.Thr420=) c.1242C= (p.Thr414=) | |
| 11 | g.47343112G>T | CA474429410 | MYBPC3 | c.1260C>A (p.Thr420=) c.1242C>A (p.Thr414=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343113G>A | CA380327593 | MYBPC3 | c.1259C>T (p.Thr420Ile) c.1241C>T (p.Thr414Ile) | gnomAD v4 |
| 11 | g.47343113G>C | CA380327598 | MYBPC3 | c.1259C>G (p.Thr420Ser) c.1241C>G (p.Thr414Ser) | |
| 11 | g.47343113G>T | CA380327596 | MYBPC3 | c.1259C>A (p.Thr420Asn) c.1241C>A (p.Thr414Asn) | |
| 11 | g.47343114T>A | CA380327601 | MYBPC3 | c.1258A>T (p.Thr420Ser) c.1240A>T (p.Thr414Ser) | |
| 11 | g.47343114T>C | CA380327602 | MYBPC3 | c.1258A>G (p.Thr420Ala) c.1240A>G (p.Thr414Ala) | COSMIC COSMIC |
| 11 | g.47343114T>G | CA380327603 | MYBPC3 | c.1258A>C (p.Thr420Pro) c.1240A>C (p.Thr414Pro) | dbSNP |
| 11 | g.47343114T= | CA1969336818 | MYBPC3 | c.1258A= (p.Thr420=) c.1240A= (p.Thr414=) | |
| 11 | g.47343115A>C | CA474429414 | MYBPC3 | c.1257T>G (p.Arg419=) c.1239T>G (p.Arg413=) | |
| 11 | g.47343115A>G | CA474429415 | MYBPC3 | c.1257T>C (p.Arg419=) c.1239T>C (p.Arg413=) | |
| 11 | g.47343115A>T | CA474429416 | MYBPC3 | c.1257T>A (p.Arg419=) c.1239T>A (p.Arg413=) | |
| 11 | g.47343116C>A | CA380327607 | MYBPC3 | c.1256G>T (p.Arg419Leu) c.1238G>T (p.Arg413Leu) | COSMIC COSMIC |
| 11 | g.47343116C= | CA1969336824 | MYBPC3 | c.1256G= (p.Arg419=) c.1238G= (p.Arg413=) | |
| 11 | g.47343116C>G | CA077958 | MYBPC3 | c.1256G>C (p.Arg419Pro) c.1238G>C (p.Arg413Pro) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.47343116C>T | CA077956 | MYBPC3 | c.1256G>A (p.Arg419His) c.1238G>A (p.Arg413His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343117G>A | CA009993 | MYBPC3 | c.1255C>T (p.Arg419Cys) c.1237C>T (p.Arg413Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343117G>C | CA380327615 | MYBPC3 | c.1255C>G (p.Arg419Gly) c.1237C>G (p.Arg413Gly) | |
| 11 | g.47343117G= | CA1969336828 | MYBPC3 | c.1255C= (p.Arg419=) c.1237C= (p.Arg413=) | |
| 11 | g.47343117G>T | CA221696968 | MYBPC3 | c.1255C>A (p.Arg419Ser) c.1237C>A (p.Arg413Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343118C>A | CA380327620 | MYBPC3 | c.1254G>T (p.Lys418Asn) c.1236G>T (p.Lys412Asn) | |
| 11 | g.47343118C= | CA1969336834 | MYBPC3 | c.1254G= (p.Lys418=) c.1236G= (p.Lys412=) | |
| 11 | g.47343118C>G | CA380327622 | MYBPC3 | c.1254G>C (p.Lys418Asn) c.1236G>C (p.Lys412Asn) | ClinVar dbSNP |
| 11 | g.47343118C>T | CA474429420 | MYBPC3 | c.1254G>A (p.Lys418=) c.1236G>A (p.Lys412=) | |
| 11 | g.47343119T>A | CA380327631 | MYBPC3 | c.1253A>T (p.Lys418Met) c.1235A>T (p.Lys412Met) | |
| 11 | g.47343119T>C | CA380327628 | MYBPC3 | c.1253A>G (p.Lys418Arg) c.1235A>G (p.Lys412Arg) | |
| 11 | g.47343119T>G | CA380327625 | MYBPC3 | c.1253A>C (p.Lys418Thr) c.1235A>C (p.Lys412Thr) | |
| 11 | g.47343120T>A | CA009986 | MYBPC3 | c.1252A>T (p.Lys418Ter) c.1234A>T (p.Lys412Ter) | ClinVar dbSNP |
| 11 | g.47343120T>C | CA380327634 | MYBPC3 | c.1252A>G (p.Lys418Glu) c.1234A>G (p.Lys412Glu) | |
| 11 | g.47343120T>G | CA380327637 | MYBPC3 | c.1252A>C (p.Lys418Gln) c.1234A>C (p.Lys412Gln) | ClinVar |
| 11 | g.47343120T= | CA1969336837 | MYBPC3 | c.1252A= (p.Lys418=) c.1234A= (p.Lys412=) | |
| 11 | g.47343120_47343126delinsGAGCACTGGCT | CA2695213915 | MYBPC3 | c.1246_1252delinsAGCCAGTGCTC (p.Gly416SerfsTer30) c.1228_1234delinsAGCCAGTGCTC (p.Gly410SerfsTer30) | |
| 11 | g.47343121G>A | CA474429421 | MYBPC3 | c.1251C>T (p.Ala417=) c.1233C>T (p.Ala411=) | |
| 11 | g.47343121G>C | CA474429422 | MYBPC3 | c.1251C>G (p.Ala417=) c.1233C>G (p.Ala411=) | |
| 11 | g.47343121G>T | CA474429423 | MYBPC3 | c.1251C>A (p.Ala417=) c.1233C>A (p.Ala411=) | gnomAD v4 |
| 11 | g.47343122G>A | CA380327639 | MYBPC3 | c.1250C>T (p.Ala417Val) c.1232C>T (p.Ala411Val) | COSMIC COSMIC |
| 11 | g.47343122G>C | CA380327643 | MYBPC3 | c.1250C>G (p.Ala417Gly) c.1232C>G (p.Ala411Gly) | |
| 11 | g.47343122G>T | CA380327641 | MYBPC3 | c.1250C>A (p.Ala417Asp) c.1232C>A (p.Ala411Asp) | |
| 11 | g.47343123C>A | CA380327647 | MYBPC3 | c.1249G>T (p.Ala417Ser) c.1231G>T (p.Ala411Ser) | |
| 11 | g.47343123C= | CA1969336839 | MYBPC3 | c.1249G= (p.Ala417=) c.1231G= (p.Ala411=) | |
| 11 | g.47343123C>G | CA380327650 | MYBPC3 | c.1249G>C (p.Ala417Pro) c.1231G>C (p.Ala411Pro) | |
| 11 | g.47343123C>T | CA380327649 | MYBPC3 | c.1249G>A (p.Ala417Thr) c.1231G>A (p.Ala411Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343125_47343136del | CA2574816141 | MYBPC3 | c.1238_1249del (p.Glu413_Gly416del) c.1220_1231del (p.Glu407_Gly410del) | |
| 11 | g.47343124A>C | CA474429427 | MYBPC3 | c.1248T>G (p.Gly416=) c.1230T>G (p.Gly410=) | |
| 11 | g.47343124A>G | CA474429428 | MYBPC3 | c.1248T>C (p.Gly416=) c.1230T>C (p.Gly410=) | |
| 11 | g.47343124A>T | CA474429430 | MYBPC3 | c.1248T>A (p.Gly416=) c.1230T>A (p.Gly410=) | gnomAD v4 |
| 11 | g.47343125C>A | CA380327653 | MYBPC3 | c.1247G>T (p.Gly416Val) c.1229G>T (p.Gly410Val) | |
| 11 | g.47343125C>G | CA380327654 | MYBPC3 | c.1247G>C (p.Gly416Ala) c.1229G>C (p.Gly410Ala) | |
| 11 | g.47343125C>T | CA380327656 | MYBPC3 | c.1247G>A (p.Gly416Asp) c.1229G>A (p.Gly410Asp) | |
| 11 | g.47343125_47343126insTGGC | CA2695213916 | MYBPC3 | c.1247_1248insCCAG (p.Ala417GlnfsTer29) c.1229_1230insCCAG (p.Ala411GlnfsTer29) | |
| 11 | g.47343126C>A | CA380327659 | MYBPC3 | c.1246G>T (p.Gly416Cys) c.1228G>T (p.Gly410Cys) | ClinVar gnomAD v4 |
| 11 | g.47343126C= | CA1969336840 | MYBPC3 | c.1246G= (p.Gly416=) c.1228G= (p.Gly410=) | |
| 11 | g.47343126C>G | CA380327661 | MYBPC3 | c.1246G>C (p.Gly416Arg) c.1228G>C (p.Gly410Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343126C>T | CA009981 | MYBPC3 | c.1246G>A (p.Gly416Ser) c.1228G>A (p.Gly410Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343127del | CA2613405067 | MYBPC3 | c.1245del (p.Ile415MetfsTer7) c.1227del (p.Ile409MetfsTer7) | gnomAD v4 |
| 11 | g.47343127G>A | CA474429432 | MYBPC3 | c.1245C>T (p.Ile415=) c.1227C>T (p.Ile409=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343127G>C | CA380327664 | MYBPC3 | c.1245C>G (p.Ile415Met) c.1227C>G (p.Ile409Met) | |
| 11 | g.47343127G= | CA1969336841 | MYBPC3 | c.1245C= (p.Ile415=) c.1227C= (p.Ile409=) | |
| 11 | g.47343127G>T | CA474429433 | MYBPC3 | c.1245C>A (p.Ile415=) c.1227C>A (p.Ile409=) | dbSNP |
| 11 | g.47343128A>C | CA380327668 | MYBPC3 | c.1244T>G (p.Ile415Ser) c.1226T>G (p.Ile409Ser) | |
| 11 | g.47343128A>G | CA380327670 | MYBPC3 | c.1244T>C (p.Ile415Thr) c.1226T>C (p.Ile409Thr) | |
| 11 | g.47343128A>T | CA380327672 | MYBPC3 | c.1244T>A (p.Ile415Asn) c.1226T>A (p.Ile409Asn) | |
| 11 | g.47343129T>A | CA380327679 | MYBPC3 | c.1243A>T (p.Ile415Phe) c.1225A>T (p.Ile409Phe) | |
| 11 | g.47343129T>C | CA380327677 | MYBPC3 | c.1243A>G (p.Ile415Val) c.1225A>G (p.Ile409Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343129T>G | CA380327675 | MYBPC3 | c.1243A>C (p.Ile415Leu) c.1225A>C (p.Ile409Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343129T= | CA1969336842 | MYBPC3 | c.1243A= (p.Ile415=) c.1225A= (p.Ile409=) | |
| 11 | g.47343130G>A | CA474429438 | MYBPC3 | c.1242C>T (p.Ser414=) c.1224C>T (p.Ser408=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343130G>C | CA474429439 | MYBPC3 | c.1242C>G (p.Ser414=) c.1224C>G (p.Ser408=) | |
| 11 | g.47343130G= | CA1969336843 | MYBPC3 | c.1242C= (p.Ser414=) c.1224C= (p.Ser408=) | |
| 11 | g.47343130G>T | CA474429440 | MYBPC3 | c.1242C>A (p.Ser414=) c.1224C>A (p.Ser408=) | |
| 11 | g.47343131G>A | CA380327681 | MYBPC3 | c.1241C>T (p.Ser414Phe) c.1223C>T (p.Ser408Phe) | |
| 11 | g.47343131G>C | CA380327682 | MYBPC3 | c.1241C>G (p.Ser414Cys) c.1223C>G (p.Ser408Cys) | |
| 11 | g.47343131G>T | CA380327683 | MYBPC3 | c.1241C>A (p.Ser414Tyr) c.1223C>A (p.Ser408Tyr) | |
| 11 | g.47343132A>C | CA380327684 | MYBPC3 | c.1240T>G (p.Ser414Ala) c.1222T>G (p.Ser408Ala) | |
| 11 | g.47343132A>G | CA380327685 | MYBPC3 | c.1240T>C (p.Ser414Pro) c.1222T>C (p.Ser408Pro) | |
| 11 | g.47343132A>T | CA380327686 | MYBPC3 | c.1240T>A (p.Ser414Thr) c.1222T>A (p.Ser408Thr) | |
| 11 | g.47343133C>A | CA380327688 | MYBPC3 | c.1239G>T (p.Glu413Asp) c.1221G>T (p.Glu407Asp) | |
| 11 | g.47343133C= | CA1969336844 | MYBPC3 | c.1239G= (p.Glu413=) c.1221G= (p.Glu407=) | |
| 11 | g.47343133C>G | CA380327689 | MYBPC3 | c.1239G>C (p.Glu413Asp) c.1221G>C (p.Glu407Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343133C>T | CA474429442 | MYBPC3 | c.1239G>A (p.Glu413=) c.1221G>A (p.Glu407=) | dbSNP gnomAD v4 |
| 11 | g.47343134T>A | CA380327693 | MYBPC3 | c.1238A>T (p.Glu413Val) c.1220A>T (p.Glu407Val) | |
| 11 | g.47343134T>C | CA009969 | MYBPC3 | c.1238A>G (p.Glu413Gly) c.1220A>G (p.Glu407Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343134T>G | CA380327696 | MYBPC3 | c.1238A>C (p.Glu413Ala) c.1220A>C (p.Glu407Ala) | |
| 11 | g.47343134T= | CA1969336845 | MYBPC3 | c.1238A= (p.Glu413=) c.1220A= (p.Glu407=) | |
| 11 | g.47343134_47343135insA | CA2695213918 | MYBPC3 | c.1237_1238insT (p.Glu413ValfsTer?) c.1219_1220insT (p.Glu407ValfsTer?) | |
| 11 | g.47343135C>A | CA380327701 | MYBPC3 | c.1237G>T (p.Glu413Ter) c.1219G>T (p.Glu407Ter) | COSMIC COSMIC |
| 11 | g.47343135C>G | CA380327702 | MYBPC3 | c.1237G>C (p.Glu413Gln) c.1219G>C (p.Glu407Gln) | |
| 11 | g.47343135C>T | CA380327699 | MYBPC3 | c.1237G>A (p.Glu413Lys) c.1219G>A (p.Glu407Lys) | |
| 11 | g.47343135_47343137delinsCAA | CA1969336846 | MYBPC3 | c.1235_1237delinsTTG (p.Phe412=) c.1217_1219delinsTTG (p.Phe406=) | |
| 11 | g.47343136A>C | CA380327705 | MYBPC3 | c.1236T>G (p.Phe412Leu) c.1218T>G (p.Phe406Leu) | |
| 11 | g.47343136A>G | CA474429444 | MYBPC3 | c.1236T>C (p.Phe412=) c.1218T>C (p.Phe406=) | |
| 11 | g.47343136A>T | CA380327706 | MYBPC3 | c.1236T>A (p.Phe412Leu) c.1218T>A (p.Phe406Leu) | |
| 11 | g.47343138dup | CA10582919 | MYBPC3 | c.1236dup (p.Glu413Ter) c.1218dup (p.Glu407Ter) | ClinVar dbSNP |
| 11 | g.47343137_47343138del | CA009961 | MYBPC3 | c.1235_1236del (p.Phe412Ter) c.1217_1218del (p.Phe406Ter) | ClinVar dbSNP |
| 11 | g.47343137A>C | CA380327710 | MYBPC3 | c.1235T>G (p.Phe412Cys) c.1217T>G (p.Phe406Cys) | |
| 11 | g.47343137A>G | CA380327712 | MYBPC3 | c.1235T>C (p.Phe412Ser) c.1217T>C (p.Phe406Ser) | |
| 11 | g.47343137A>T | CA380327715 | MYBPC3 | c.1235T>A (p.Phe412Tyr) c.1217T>A (p.Phe406Tyr) | |
| 11 | g.47343138A= | CA1969336847 | MYBPC3 | c.1234T= (p.Phe412=) c.1216T= (p.Phe406=) | |
| 11 | g.47343138A>C | CA380327718 | MYBPC3 | c.1234T>G (p.Phe412Val) c.1216T>G (p.Phe406Val) | |
| 11 | g.47343138A>G | CA380327722 | MYBPC3 | c.1234T>C (p.Phe412Leu) c.1216T>C (p.Phe406Leu) | ClinVar dbSNP |
| 11 | g.47343138A>T | CA380327720 | MYBPC3 | c.1234T>A (p.Phe412Ile) c.1216T>A (p.Phe406Ile) | |
| 11 | g.47343139G>A | CA474429451 | MYBPC3 | c.1233C>T (p.Ile411=) c.1215C>T (p.Ile405=) | |
| 11 | g.47343139G>C | CA380327724 | MYBPC3 | c.1233C>G (p.Ile411Met) c.1215C>G (p.Ile405Met) | |
| 11 | g.47343139G>T | CA474429452 | MYBPC3 | c.1233C>A (p.Ile411=) c.1215C>A (p.Ile405=) | |
| 11 | g.47343140A= | CA1969336848 | MYBPC3 | c.1232T= (p.Ile411=) c.1214T= (p.Ile405=) | |
| 11 | g.47343140A>C | CA380327725 | MYBPC3 | c.1232T>G (p.Ile411Ser) c.1214T>G (p.Ile405Ser) | |
| 11 | g.47343140A>G | CA380327726 | MYBPC3 | c.1232T>C (p.Ile411Thr) c.1214T>C (p.Ile405Thr) | |
| 11 | g.47343140A>T | CA077952 | MYBPC3 | c.1232T>A (p.Ile411Asn) c.1214T>A (p.Ile405Asn) | dbSNP ExAC gnomAD v2 |
| 11 | g.47343141T>A | CA380327731 | MYBPC3 | c.1231A>T (p.Ile411Phe) c.1213A>T (p.Ile405Phe) | |
| 11 | g.47343141T>C | CA380327734 | MYBPC3 | c.1231A>G (p.Ile411Val) c.1213A>G (p.Ile405Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343141T>G | CA380327732 | MYBPC3 | c.1231A>C (p.Ile411Leu) c.1213A>C (p.Ile405Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343141T= | CA1969336849 | MYBPC3 | c.1231A= (p.Ile411=) c.1213A= (p.Ile405=) | |
| 11 | g.47343142G>A | CA474429458 | MYBPC3 | c.1230C>T (p.Tyr410=) c.1212C>T (p.Tyr404=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343142G>C | CA380327737 | MYBPC3 | c.1230C>G (p.Tyr410Ter) c.1212C>G (p.Tyr404Ter) | |
| 11 | g.47343142G= | CA1969336850 | MYBPC3 | c.1230C= (p.Tyr410=) c.1212C= (p.Tyr404=) | |
| 11 | g.47343142G>T | CA380327738 | MYBPC3 | c.1230C>A (p.Tyr410Ter) c.1212C>A (p.Tyr404Ter) | COSMIC COSMIC |
| 11 | g.47343143T>A | CA380327741 | MYBPC3 | c.1229A>T (p.Tyr410Phe) c.1211A>T (p.Tyr404Phe) | |
| 11 | g.47343143T>C | CA380327743 | MYBPC3 | c.1229A>G (p.Tyr410Cys) c.1211A>G (p.Tyr404Cys) | |
| 11 | g.47343143T>G | CA380327745 | MYBPC3 | c.1229A>C (p.Tyr410Ser) c.1211A>C (p.Tyr404Ser) | |
| 11 | g.47343143T= | CA1969336851 | MYBPC3 | c.1229A= (p.Tyr410=) c.1211A= (p.Tyr404=) | |
| 11 | g.47343144A>C | CA380327748 | MYBPC3 | c.1228T>G (p.Tyr410Asp) c.1210T>G (p.Tyr404Asp) | |
| 11 | g.47343144A>G | CA380327750 | MYBPC3 | c.1228T>C (p.Tyr410His) c.1210T>C (p.Tyr404His) | |
| 11 | g.47343144A>T | CA380327752 | MYBPC3 | c.1228T>A (p.Tyr410Asn) c.1210T>A (p.Tyr404Asn) | |
| 11 | g.47343144_47343146dup | CA5975377 | MYBPC3 | c.1227-1_1228dup c.1226_1228dup (p.Arg409_Tyr410insTrp) c.1209-1_1210dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343145C>A | CA380327754 | MYBPC3 | c.1227G>T (p.Lys409Asn) c.1227G>T (p.Arg409Ser) c.1209G>T (p.Lys403Asn) | |
| 11 | g.47343145C>G | CA380327756 | MYBPC3 | c.1227G>C (p.Lys409Asn) c.1227G>C (p.Arg409Ser) c.1209G>C (p.Lys403Asn) | |
| 11 | g.47343145C>T | CA474429463 | MYBPC3 | c.1227G>A (p.Lys409=) c.1227G>A (p.Arg409=) c.1209G>A (p.Lys403=) | ClinVar gnomAD v4 |
| 11 | g.47343146C>A | CA380327762 | MYBPC3 | c.1227-1G>T (n.1227-1G>T) c.1226G>T (p.Arg409Met) c.1209-1G>T (n.1209-1G>T) | ClinVar dbSNP |
| 11 | g.47343146C= | CA1969336852 | MYBPC3 | c.1227-1G= (n.1227-1G=) c.1226G= (p.Arg409=) c.1209-1G= (n.1209-1G=) | |
| 11 | g.47343146C>G | CA380327760 | MYBPC3 | c.1227-1G>C (n.1227-1G>C) c.1226G>C (p.Arg409Thr) c.1209-1G>C (n.1209-1G>C) | ClinVar dbSNP |
| 11 | g.47343146C>T | CA221697022 | MYBPC3 | c.1227-1G>A (n.1227-1G>A) c.1226G>A (p.Arg409Lys) c.1209-1G>A (n.1209-1G>A) | ClinVar dbSNP |
| 11 | g.47343147T>A | CA380327764 | MYBPC3 | c.1227-2A>T (n.1227-2A>T) c.1225A>T (p.Arg409Trp) c.1209-2A>T (n.1209-2A>T) | |
| 11 | g.47343147T>C | CA009954 | MYBPC3 | c.1227-2A>G (n.1227-2A>G) c.1225A>G (p.Arg409Gly) c.1209-2A>G (n.1209-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343147T>G | CA380327768 | MYBPC3 | c.1227-2A>C (n.1227-2A>C) c.1225A>C (p.Arg409=) c.1209-2A>C (n.1209-2A>C) | |
| 11 | g.47343147T= | CA1969336853 | MYBPC3 | c.1227-2A= (n.1227-2A=) c.1225A= (p.Arg409=) c.1209-2A= (n.1209-2A=) | |
| 11 | g.47343148G>C | CA380327772 | MYBPC3 | c.1227-3C>G (n.1227-3C>G) c.1224C>G (p.Ser408Arg) c.1209-3C>G (n.1209-3C>G) | gnomAD v4 |
| 11 | g.47343148G>T | CA380327773 | MYBPC3 | c.1227-3C>A (n.1227-3C>A) c.1224C>A (p.Ser408Arg) c.1209-3C>A (n.1209-3C>A) | gnomAD v4 |
| 11 | g.47343150del | CA2499220977 | MYBPC3 | c.1227-3del (n.1227-3del) c.1224del c.1209-3del (n.1209-3del) | ClinVar dbSNP |
| 11 | g.47343149G>A | CA380327775 | MYBPC3 | c.1227-4C>T (n.1227-4C>T) c.1224-1C>T (n.1224-1C>T) c.1209-4C>T (n.1209-4C>T) | |
| 11 | g.47343149G>C | CA077943 | MYBPC3 | c.1227-4C>G (n.1227-4C>G) c.1224-1C>G (n.1224-1C>G) c.1209-4C>G (n.1209-4C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343149G= | CA1969336854 | MYBPC3 | c.1227-4C= (n.1227-4C=) c.1224-1C= (n.1224-1C=) c.1209-4C= (n.1209-4C=) | |
| 11 | g.47343149G>T | CA380327777 | MYBPC3 | c.1227-4C>A (n.1227-4C>A) c.1224-1C>A (n.1224-1C>A) c.1209-4C>A (n.1209-4C>A) | gnomAD v4 |
| 11 | g.47343150G>A | CA380327780 | MYBPC3 | c.1227-5C>T (n.1227-5C>T) c.1224-2C>T (n.1224-2C>T) c.1209-5C>T (n.1209-5C>T) | ClinVar |
| 11 | g.47343150G>C | CA380327782 | MYBPC3 | c.1227-5C>G (n.1227-5C>G) c.1224-2C>G (n.1224-2C>G) c.1209-5C>G (n.1209-5C>G) | |
| 11 | g.47343150G= | CA1969336855 | MYBPC3 | c.1227-5C= (n.1227-5C=) c.1224-2C= (n.1224-2C=) c.1209-5C= (n.1209-5C=) | |
| 11 | g.47343150G>T | CA077949 | MYBPC3 | c.1227-5C>A (n.1227-5C>A) c.1224-2C>A (n.1224-2C>A) c.1209-5C>A (n.1209-5C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343151T>C | CA915948160 | MYBPC3 | c.1227-6A>G (n.1227-6A>G) c.1224-3A>G (n.1224-3A>G) c.1209-6A>G (n.1209-6A>G) | ClinVar dbSNP |
| 11 | g.47343151T>G | CA2613405141 | MYBPC3 | c.1227-6A>C (n.1227-6A>C) c.1224-3A>C (n.1224-3A>C) c.1209-6A>C (n.1209-6A>C) | gnomAD v4 |
| 11 | g.47343151T= | CA1969336856 | MYBPC3 | c.1227-6A= (n.1227-6A=) c.1224-3A= (n.1224-3A=) c.1209-6A= (n.1209-6A=) | |
| 11 | g.47343152G>A | CA677001173 | MYBPC3 | c.1227-7C>T (n.1227-7C>T) c.1224-4C>T (n.1224-4C>T) c.1209-7C>T (n.1209-7C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343152G>C | CA043777 | MYBPC3 | c.1227-7C>G (n.1227-7C>G) c.1224-4C>G (n.1224-4C>G) c.1209-7C>G (n.1209-7C>G) | |
| 11 | g.47343152G= | CA1969336857 | MYBPC3 | c.1227-7C= (n.1227-7C=) c.1224-4C= (n.1224-4C=) c.1209-7C= (n.1209-7C=) | |
| 11 | g.47343156dup | CA599374176 | MYBPC3 | c.1227-7dup (n.1227-7dup) c.1224-4dup (n.1224-4dup) c.1209-7dup (n.1209-7dup) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343153G>T | CA043802 | MYBPC3 | c.1227-8C>A (n.1227-8C>A) c.1224-5C>A (n.1224-5C>A) c.1209-8C>A (n.1209-8C>A) | gnomAD v4 |
| 11 | g.47343154G>A | CA2596115411 | MYBPC3 | c.1227-9C>T (n.1227-9C>T) c.1224-6C>T (n.1224-6C>T) c.1209-9C>T (n.1209-9C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343154G>C | CA2580084281 | MYBPC3 | c.1227-9C>G (n.1227-9C>G) c.1224-6C>G (n.1224-6C>G) c.1209-9C>G (n.1209-9C>G) | ClinVar |
| 11 | g.47343154G= | CA1969336858 | MYBPC3 | c.1227-9C= (n.1227-9C=) c.1224-6C= (n.1224-6C=) c.1209-9C= (n.1209-9C=) | |
| 11 | g.47343154G>T | CA221697051 | MYBPC3 | c.1227-9C>A (n.1227-9C>A) c.1224-6C>A (n.1224-6C>A) c.1209-9C>A (n.1209-9C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343155G>A | CA009945 | MYBPC3 | c.1227-10C>T (n.1227-10C>T) c.1224-7C>T (n.1224-7C>T) c.1209-10C>T (n.1209-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343155G>C | CA2697548583 | MYBPC3 | c.1227-10C>G (n.1227-10C>G) c.1224-7C>G (n.1224-7C>G) c.1209-10C>G (n.1209-10C>G) | ClinVar |
| 11 | g.47343155G= | CA1969336859 | MYBPC3 | c.1227-10C= (n.1227-10C=) c.1224-7C= (n.1224-7C=) c.1209-10C= (n.1209-10C=) | |
| 11 | g.47343155G>T | CA2723701938 | MYBPC3 | c.1227-10C>A (n.1227-10C>A) c.1224-7C>A (n.1224-7C>A) c.1209-10C>A (n.1209-10C>A) | dbSNP |
| 11 | g.47343156G>T | CA2613405162 | MYBPC3 | c.1227-11C>A (n.1227-11C>A) c.1224-8C>A (n.1224-8C>A) c.1209-11C>A (n.1209-11C>A) | gnomAD v4 |
| 11 | g.47343157C>A | CA677001184 | MYBPC3 | c.1227-12G>T (n.1227-12G>T) c.1224-9G>T (n.1224-9G>T) c.1209-12G>T (n.1209-12G>T) | dbSNP |
| 11 | g.47343157C= | CA1969336860 | MYBPC3 | c.1227-12G= (n.1227-12G=) c.1224-9G= (n.1224-9G=) c.1209-12G= (n.1209-12G=) | |
| 11 | g.47343157C>G | CA677001179 | MYBPC3 | c.1227-12G>C (n.1227-12G>C) c.1224-9G>C (n.1224-9G>C) c.1209-12G>C (n.1209-12G>C) | dbSNP |
| 11 | g.47343158C>A | CA2613405166 | MYBPC3 | c.1227-13G>T (n.1227-13G>T) c.1224-10G>T (n.1224-10G>T) c.1209-13G>T (n.1209-13G>T) | gnomAD v4 |
| 11 | g.47343158C= | CA1969336861 | MYBPC3 | c.1227-13G= (n.1227-13G=) c.1224-10G= (n.1224-10G=) c.1209-13G= (n.1209-13G=) | |
| 11 | g.47343158C>T | CA009952 | MYBPC3 | c.1227-13G>A (n.1227-13G>A) c.1224-10G>A (n.1224-10G>A) c.1209-13G>A (n.1209-13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343158_47343169delinsCGCAGGGAAGTG | CA1969336862 | MYBPC3 | c.1227-24_1227-13delinsCACTTCCCTGCG (n.1227-24_1227-13delinsCACTTCCCTGCG) c.1224-21_1224-10delinsCACTTCCCTGCG (n.1224-21_1224-10delinsCACTTCCCTGCG) c.1209-24_1209-13delinsCACTTCCCTGCG (n.1209-24_1209-13delinsCACTTCCCTGCG) | |
| 11 | g.47343159G>A | CA077923 | MYBPC3 | c.1227-14C>T (n.1227-14C>T) c.1224-11C>T (n.1224-11C>T) c.1209-14C>T (n.1209-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.47343159G>C | CA677001194 | MYBPC3 | c.1227-14C>G (n.1227-14C>G) c.1224-11C>G (n.1224-11C>G) c.1209-14C>G (n.1209-14C>G) | dbSNP |
| 11 | g.47343159G= | CA1969336863 | MYBPC3 | c.1227-14C= (n.1227-14C=) c.1224-11C= (n.1224-11C=) c.1209-14C= (n.1209-14C=) | |
| 11 | g.47343159G>T | CA077921 | MYBPC3 | c.1227-14C>A (n.1227-14C>A) c.1224-11C>A (n.1224-11C>A) c.1209-14C>A (n.1209-14C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343164_47343174del | CA599374178 | MYBPC3 | c.1227-24_1227-14del (n.1227-24_1227-14del) c.1224-21_1224-11del (n.1224-21_1224-11del) c.1209-24_1209-14del (n.1209-24_1209-14del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343162G>A | CA043480 | MYBPC3 | c.1227-17C>T (n.1227-17C>T) c.1224-14C>T (n.1224-14C>T) c.1209-17C>T (n.1209-17C>T) | gnomAD v4 |
| 11 | g.47343162G>T | CA043460 | MYBPC3 | c.1227-17C>A (n.1227-17C>A) c.1224-14C>A (n.1224-14C>A) c.1209-17C>A (n.1209-17C>A) | |
| 11 | g.47343163G>A | CA599374182 | MYBPC3 | c.1227-18C>T (n.1227-18C>T) c.1224-15C>T (n.1224-15C>T) c.1209-18C>T (n.1209-18C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343163G= | CA1969336864 | MYBPC3 | c.1227-18C= (n.1227-18C=) c.1224-15C= (n.1224-15C=) c.1209-18C= (n.1209-18C=) | |
| 11 | g.47343163G>T | CA077925 | MYBPC3 | c.1227-18C>A (n.1227-18C>A) c.1224-15C>A (n.1224-15C>A) c.1209-18C>A (n.1209-18C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |