Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47351368A>C | CA380341800 | MYBPC3 | c.163T>G (p.Tyr55Asp) | |
11 | g.47351368A>G | CA380341799 | MYBPC3 | c.163T>C (p.Tyr55His) | |
11 | g.47351368A>T | CA380341798 | MYBPC3 | c.163T>A (p.Tyr55Asn) | |
11 | g.47351368_47351369delinsAC | CA1969342682 | MYBPC3 | c.162_163delinsGT (p.Lys54=) | |
11 | g.47351369del | CA348352 | MYBPC3 | c.162del (p.Lys54AsnfsTer13) | ClinVar dbSNP gnomAD v4 |
11 | g.47351369C>A | CA380341801 | MYBPC3 | c.162G>T (p.Lys54Asn) | |
11 | g.47351369C>G | CA380341802 | MYBPC3 | c.162G>C (p.Lys54Asn) | |
11 | g.47351369C>T | CA474429740 | MYBPC3 | c.162G>A (p.Lys54=) | gnomAD v4 |
11 | g.47351370T>A | CA380341803 | MYBPC3 | c.161A>T (p.Lys54Met) | |
11 | g.47351370T>C | CA380341804 | MYBPC3 | c.161A>G (p.Lys54Arg) | gnomAD v4 |
11 | g.47351370T>G | CA380341805 | MYBPC3 | c.161A>C (p.Lys54Thr) | |
11 | g.47351371del | CA2613402375 | MYBPC3 | c.161del (p.Lys54SerfsTer13) | gnomAD v4 |
11 | g.47351371T>A | CA380341808 | MYBPC3 | c.160A>T (p.Lys54Ter) | |
11 | g.47351371T>C | CA380341806 | MYBPC3 | c.160A>G (p.Lys54Glu) | gnomAD v4 |
11 | g.47351371T>G | CA380341807 | MYBPC3 | c.160A>C (p.Lys54Gln) | |
11 | g.47351372del | CA2573130272 | MYBPC3 | c.159del (p.Asn53LysfsTer14) | |
11 | g.47351372G>A | CA474429746 | MYBPC3 | c.159C>T (p.Asn53=) | |
11 | g.47351372G>C | CA380341809 | MYBPC3 | c.159C>G (p.Asn53Lys) | |
11 | g.47351372G>T | CA380341810 | MYBPC3 | c.159C>A (p.Asn53Lys) | gnomAD v4 |
11 | g.47351373T>A | CA380341811 | MYBPC3 | c.158A>T (p.Asn53Ile) | |
11 | g.47351373T>C | CA380341812 | MYBPC3 | c.158A>G (p.Asn53Ser) | |
11 | g.47351373T>G | CA380341813 | MYBPC3 | c.158A>C (p.Asn53Thr) | |
11 | g.47351373_47351374insGACCA | CA2613402419 | MYBPC3 | c.157_158insTGGTC (p.Asn53MetfsTer16) | gnomAD v4 |
11 | g.47351374T>A | CA380341814 | MYBPC3 | c.157A>T (p.Asn53Tyr) | |
11 | g.47351374T>C | CA380341816 | MYBPC3 | c.157A>G (p.Asn53Asp) | |
11 | g.47351374T>G | CA380341815 | MYBPC3 | c.157A>C (p.Asn53His) | |
11 | g.47351375G>A | CA474429751 | MYBPC3 | c.156C>T (p.Ser52=) | |
11 | g.47351375G>C | CA380341817 | MYBPC3 | c.156C>G (p.Ser52Arg) | |
11 | g.47351375G>T | CA380341818 | MYBPC3 | c.156C>A (p.Ser52Arg) | gnomAD v4 |
11 | g.47351376C>A | CA380341819 | MYBPC3 | c.155G>T (p.Ser52Ile) | |
11 | g.47351376C>G | CA380341820 | MYBPC3 | c.155G>C (p.Ser52Thr) | |
11 | g.47351376C>T | CA380341821 | MYBPC3 | c.155G>A (p.Ser52Asn) | gnomAD v4 |
11 | g.47351377T>A | CA380341822 | MYBPC3 | c.154A>T (p.Ser52Cys) | ClinVar dbSNP |
11 | g.47351377T>C | CA380341823 | MYBPC3 | c.154A>G (p.Ser52Gly) | |
11 | g.47351377T>G | CA380341824 | MYBPC3 | c.154A>C (p.Ser52Arg) | |
11 | g.47351377T= | CA1969342683 | MYBPC3 | c.154A= (p.Ser52=) | |
11 | g.47351378G>A | CA474429753 | MYBPC3 | c.153C>T (p.Ala51=) | |
11 | g.47351378G>C | CA474429754 | MYBPC3 | c.153C>G (p.Ala51=) | |
11 | g.47351378G>T | CA474429755 | MYBPC3 | c.153C>A (p.Ala51=) | |
11 | g.47351379G>A | CA045626 | MYBPC3 | c.152C>T (p.Ala51Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47351379G>C | CA380341825 | MYBPC3 | c.152C>G (p.Ala51Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47351379G= | CA1969342684 | MYBPC3 | c.152C= (p.Ala51=) | |
11 | g.47351379G>T | CA380341826 | MYBPC3 | c.152C>A (p.Ala51Asp) | |
11 | g.47351380C>A | CA010559 | MYBPC3 | c.151G>T (p.Ala51Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351380C= | CA1969342686 | MYBPC3 | c.151G= (p.Ala51=) | |
11 | g.47351380C>G | CA380341827 | MYBPC3 | c.151G>C (p.Ala51Pro) | |
11 | g.47351380C>T | CA045598 | MYBPC3 | c.151G>A (p.Ala51Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351380_47351386delinsCGCTGAT | CA1969342685 | MYBPC3 | c.145_151delinsATCAGCG (p.Ile49=) | |
11 | g.47351381G>A | CA045541 | MYBPC3 | c.150C>T (p.Ser50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351381G>C | CA380341828 | MYBPC3 | c.150C>G (p.Ser50Arg) |