Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47351295T>A | CA380341657 | MYBPC3 | c.236A>T (p.Tyr79Phe) | |
11 | g.47351295T>C | CA380341658 | MYBPC3 | c.236A>G (p.Tyr79Cys) | ClinVar dbSNP |
11 | g.47351295T>G | CA380341659 | MYBPC3 | c.236A>C (p.Tyr79Ser) | |
11 | g.47351295T= | CA1969342633 | MYBPC3 | c.236A= (p.Tyr79=) | |
11 | g.47351295dup | CA16042816 | MYBPC3 | c.236dup (p.Tyr79Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47351296A= | CA1969342634 | MYBPC3 | c.235T= (p.Tyr79=) | |
11 | g.47351296A>C | CA380341660 | MYBPC3 | c.235T>G (p.Tyr79Asp) | |
11 | g.47351296A>G | CA380341661 | MYBPC3 | c.235T>C (p.Tyr79His) | gnomAD v4 |
11 | g.47351296A>T | CA012128 | MYBPC3 | c.235T>A (p.Tyr79Asn) | ClinVar dbSNP |
11 | g.47351297A>C | CA474429619 | MYBPC3 | c.234T>G (p.Ser78=) | |
11 | g.47351297A>G | CA474429620 | MYBPC3 | c.234T>C (p.Ser78=) | dbSNP |
11 | g.47351297A>T | CA474429622 | MYBPC3 | c.234T>A (p.Ser78=) | |
11 | g.47351298G>A | CA380341663 | MYBPC3 | c.233C>T (p.Ser78Phe) | |
11 | g.47351298G>C | CA380341664 | MYBPC3 | c.233C>G (p.Ser78Cys) | |
11 | g.47351298G>T | CA380341662 | MYBPC3 | c.233C>A (p.Ser78Tyr) | |
11 | g.47351299A>C | CA380341667 | MYBPC3 | c.232T>G (p.Ser78Ala) | |
11 | g.47351299A>G | CA380341665 | MYBPC3 | c.232T>C (p.Ser78Pro) | |
11 | g.47351299A>T | CA380341666 | MYBPC3 | c.232T>A (p.Ser78Thr) | |
11 | g.47351299_47351306delinsATCCCTGG | CA1969342635 | MYBPC3 | c.225_232delinsCCAGGGAT (p.Asp75=) | |
11 | g.47351300T>A | CA474429624 | MYBPC3 | c.231A>T (p.Gly77=) | gnomAD v4 |
11 | g.47351300T>C | CA474429625 | MYBPC3 | c.231A>G (p.Gly77=) | ClinVar dbSNP gnomAD v4 |
11 | g.47351300T>G | CA474429623 | MYBPC3 | c.231A>C (p.Gly77=) | |
11 | g.47351300T= | CA1969342636 | MYBPC3 | c.231A= (p.Gly77=) | |
11 | g.47351302_47351308del | CA676993760 | MYBPC3 | c.225_231del (p.Gln76LeufsTer18) | dbSNP |
11 | g.47351301C>A | CA380341668 | MYBPC3 | c.230G>T (p.Gly77Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351301C= | CA1969342637 | MYBPC3 | c.230G= (p.Gly77=) | |
11 | g.47351301C>G | CA380341669 | MYBPC3 | c.230G>C (p.Gly77Ala) | |
11 | g.47351301C>T | CA012059 | MYBPC3 | c.230G>A (p.Gly77Glu) | ClinVar dbSNP |
11 | g.47351303del | CA2580084274 | MYBPC3 | c.230del (p.Gly77AspfsTer19) | ClinVar |
11 | g.47351302C>A | CA351921 | MYBPC3 | c.229G>T (p.Gly77Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47351302C= | CA1969342638 | MYBPC3 | c.229G= (p.Gly77=) | |
11 | g.47351302C>G | CA380341670 | MYBPC3 | c.229G>C (p.Gly77Arg) | |
11 | g.47351302C>T | CA380341671 | MYBPC3 | c.229G>A (p.Gly77Arg) | |
11 | g.47351303C>A | CA380341672 | MYBPC3 | c.228G>T (p.Gln76His) | gnomAD v4 |
11 | g.47351303C= | CA1969342639 | MYBPC3 | c.228G= (p.Gln76=) | |
11 | g.47351303C>G | CA380341673 | MYBPC3 | c.228G>C (p.Gln76His) | |
11 | g.47351303C>T | CA049031 | MYBPC3 | c.228G>A (p.Gln76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47351304_47351308dup | CA2695214004 | MYBPC3 | c.224_228dup (p.Gly77ThrfsTer21) | |
11 | g.47351309_47351310insCAGATCTGGTCG | CA2613402097 | MYBPC3 | c.228_229insATCTGCGACCAG (p.Gln76_Gly77insIleCysAspGln) | gnomAD v4 |
11 | g.47351304T>A | CA380341676 | MYBPC3 | c.227A>T (p.Gln76Leu) | |
11 | g.47351304T>C | CA380341674 | MYBPC3 | c.227A>G (p.Gln76Arg) | ClinVar gnomAD v4 |
11 | g.47351304T>G | CA380341675 | MYBPC3 | c.227A>C (p.Gln76Pro) | |
11 | g.47351304dup | CA279311 | MYBPC3 | c.227dup (p.Ser78IlefsTer?) | ClinVar dbSNP |
11 | g.47351305G>A | CA380341677 | MYBPC3 | c.226C>T (p.Gln76Ter) | ClinVar dbSNP |
11 | g.47351305G>C | CA380341678 | MYBPC3 | c.226C>G (p.Gln76Glu) | |
11 | g.47351305G= | CA1969342640 | MYBPC3 | c.226C= (p.Gln76=) | |
11 | g.47351305G>T | CA380341679 | MYBPC3 | c.226C>A (p.Gln76Lys) | |
11 | g.47351306G>A | CA474429630 | MYBPC3 | c.225C>T (p.Asp75=) | gnomAD v4 |
11 | g.47351306G>C | CA380341680 | MYBPC3 | c.225C>G (p.Asp75Glu) | ClinVar dbSNP |
11 | g.47351306G= | CA1969342641 | MYBPC3 | c.225C= (p.Asp75=) |