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.47343043_47343053delinsACACTTCTCGC | CA1969336604 | MYBPC3 | c.1319_1329delinsGCGAGAAGTGT (p.Gly440=) c.1301_1311delinsGCGAGAAGTGT (p.Gly434=) | |
11 | g.47343047_47343056del | CA915948159 | MYBPC3 | c.1319_1328del (p.Gly440ValfsTer7) c.1301_1310del (p.Gly434ValfsTer7) | ClinVar dbSNP |
11 | g.47343051C>A | CA380326960 | MYBPC3 | c.1321G>T (p.Glu441Ter) c.1303G>T (p.Glu435Ter) | |
11 | g.47343051C= | CA1969336621 | MYBPC3 | c.1321G= (p.Glu441=) c.1303G= (p.Glu435=) | |
11 | g.47343051C>G | CA380326963 | MYBPC3 | c.1321G>C (p.Glu441Gln) c.1303G>C (p.Glu435Gln) | |
11 | g.47343051C>T | CA010097 | MYBPC3 | c.1321G>A (p.Glu441Lys) c.1303G>A (p.Glu435Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343052G>A | CA010090 | MYBPC3 | c.1320C>T (p.Gly440=) c.1302C>T (p.Gly434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343052G>C | CA474429522 | MYBPC3 | c.1320C>G (p.Gly440=) c.1302C>G (p.Gly434=) | |
11 | g.47343052G= | CA1969336627 | MYBPC3 | c.1320C= (p.Gly440=) c.1302C= (p.Gly434=) | |
11 | g.47343052G>T | CA044579 | MYBPC3 | c.1320C>A (p.Gly440=) c.1302C>A (p.Gly434=) | ClinVar |
11 | g.47343053C>A | CA380326974 | MYBPC3 | c.1319G>T (p.Gly440Val) c.1301G>T (p.Gly434Val) | |
11 | g.47343053C= | CA1969336632 | MYBPC3 | c.1319G= (p.Gly440=) c.1301G= (p.Gly434=) | |
11 | g.47343053C>G | CA380326975 | MYBPC3 | c.1319G>C (p.Gly440Ala) c.1301G>C (p.Gly434Ala) | |
11 | g.47343053C>T | CA077988 | MYBPC3 | c.1319G>A (p.Gly440Asp) c.1301G>A (p.Gly434Asp) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.47343054C>A | CA380326985 | MYBPC3 | c.1318G>T (p.Gly440Cys) c.1300G>T (p.Gly434Cys) | |
11 | g.47343054C>G | CA380326988 | MYBPC3 | c.1318G>C (p.Gly440Arg) c.1300G>C (p.Gly434Arg) | |
11 | g.47343054C>T | CA044275 | MYBPC3 | c.1318G>A (p.Gly440Ser) c.1300G>A (p.Gly434Ser) | gnomAD v4 |
11 | g.47343055A= | CA1969336637 | MYBPC3 | c.1317T= (p.Gly439=) c.1299T= (p.Gly433=) | |
11 | g.47343055A>C | CA474429524 | MYBPC3 | c.1317T>G (p.Gly439=) c.1299T>G (p.Gly433=) | dbSNP |
11 | g.47343055A>G | CA474429525 | MYBPC3 | c.1317T>C (p.Gly439=) c.1299T>C (p.Gly433=) | |
11 | g.47343055A>T | CA474429523 | MYBPC3 | c.1317T>A (p.Gly439=) c.1299T>A (p.Gly433=) | |
11 | g.47343055_47343056delinsAC | CA1969336636 | MYBPC3 | c.1316_1317delinsGT (p.Gly439=) c.1298_1299delinsGT (p.Gly433=) | |
11 | g.47343056C>A | CA380326998 | MYBPC3 | c.1316G>T (p.Gly439Val) c.1298G>T (p.Gly433Val) | |
11 | g.47343056C= | CA1969336643 | MYBPC3 | c.1316G= (p.Gly439=) c.1298G= (p.Gly433=) | |
11 | g.47343056C>G | CA044596 | MYBPC3 | c.1316G>C (p.Gly439Ala) c.1298G>C (p.Gly433Ala) | |
11 | g.47343056C>T | CA044238 | MYBPC3 | c.1316G>A (p.Gly439Asp) c.1298G>A (p.Gly433Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343058del | CA010077 | MYBPC3 | c.1316del (p.Gly439ValfsTer11) c.1298del (p.Gly433ValfsTer11) | ClinVar dbSNP |
11 | g.47343057C>A | CA380327018 | MYBPC3 | c.1315G>T (p.Gly439Cys) c.1297G>T (p.Gly433Cys) | |
11 | g.47343057C= | CA1969336649 | MYBPC3 | c.1315G= (p.Gly439=) c.1297G= (p.Gly433=) | |
11 | g.47343057C>G | CA380327020 | MYBPC3 | c.1315G>C (p.Gly439Arg) c.1297G>C (p.Gly433Arg) | |
11 | g.47343057C>T | CA380327024 | MYBPC3 | c.1315G>A (p.Gly439Ser) c.1297G>A (p.Gly433Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47343057_47343068del | CA2613404782 | MYBPC3 | c.1304_1315del (p.Gln435_Gly439delinsArg) c.1286_1297del (p.Gln429_Gly433delinsArg) | gnomAD v4 |
11 | g.47343058C>A | CA474429529 | MYBPC3 | c.1314G>T (p.Val438=) c.1296G>T (p.Val432=) | gnomAD v4 |
11 | g.47343058C>G | CA474429530 | MYBPC3 | c.1314G>C (p.Val438=) c.1296G>C (p.Val432=) | |
11 | g.47343058C>T | CA474429531 | MYBPC3 | c.1314G>A (p.Val438=) c.1296G>A (p.Val432=) | |
11 | g.47343059A>C | CA380327026 | MYBPC3 | c.1313T>G (p.Val438Gly) c.1295T>G (p.Val432Gly) | |
11 | g.47343059A>G | CA380327029 | MYBPC3 | c.1313T>C (p.Val438Ala) c.1295T>C (p.Val432Ala) | |
11 | g.47343059A>T | CA380327034 | MYBPC3 | c.1313T>A (p.Val438Glu) c.1295T>A (p.Val432Glu) | |
11 | g.47343060C>A | CA380327039 | MYBPC3 | c.1312G>T (p.Val438Leu) c.1294G>T (p.Val432Leu) | |
11 | g.47343060C>G | CA380327041 | MYBPC3 | c.1312G>C (p.Val438Leu) c.1294G>C (p.Val432Leu) | ClinVar |
11 | g.47343060C>T | CA380327043 | MYBPC3 | c.1312G>A (p.Val438Met) c.1294G>A (p.Val432Met) | gnomAD v4 |
11 | g.47343061C>A | CA474429535 | MYBPC3 | c.1311G>T (p.Val437=) c.1293G>T (p.Val431=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343061C= | CA1969336655 | MYBPC3 | c.1311G= (p.Val437=) c.1293G= (p.Val431=) | |
11 | g.47343061C>G | CA16613586 | MYBPC3 | c.1311G>C (p.Val437=) c.1293G>C (p.Val431=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343061C>T | CA474429536 | MYBPC3 | c.1311G>A (p.Val437=) c.1293G>A (p.Val431=) | |
11 | g.47343061_47343062delinsCA | CA1969336653 | MYBPC3 | c.1310_1311delinsTG (p.Val437=) c.1292_1293delinsTG (p.Val431=) | |
11 | g.47343062del | CA010069 | MYBPC3 | c.1310del (p.Val437GlyfsTer13) c.1292del (p.Val431GlyfsTer13) | ClinVar dbSNP |
11 | g.47343062A>C | CA044614 | MYBPC3 | c.1310T>G (p.Val437Gly) c.1292T>G (p.Val431Gly) | |
11 | g.47343062A>G | CA380327057 | MYBPC3 | c.1310T>C (p.Val437Ala) c.1292T>C (p.Val431Ala) |