Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47351289_47351292del | CA2573053515 | MYBPC3 | c.241_244del (p.Val81LeufsTer14) | ClinVar dbSNP |
11 | g.47351291_47351292delinsTG | CA1969342628 | MYBPC3 | c.239_240delinsCA (p.Ala80=) | |
11 | g.47351292G>A | CA380341642 | MYBPC3 | c.239C>T (p.Ala80Val) | |
11 | g.47351292G>C | CA380341640 | MYBPC3 | c.239C>G (p.Ala80Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351292G= | CA1969342629 | MYBPC3 | c.239C= (p.Ala80=) | |
11 | g.47351292G>T | CA380341638 | MYBPC3 | c.239C>A (p.Ala80Glu) | gnomAD v4 |
11 | g.47351292delinsCCTC | CA180812 | MYBPC3 | c.239delinsGAGG (p.Ala80delinsGlyGly) | ClinVar dbSNP |
11 | g.47351293C>A | CA221708620 | MYBPC3 | c.238G>T (p.Ala80Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47351293C= | CA1969342631 | MYBPC3 | c.238G= (p.Ala80=) | |
11 | g.47351293C>G | CA380341646 | MYBPC3 | c.238G>C (p.Ala80Pro) | ClinVar dbSNP |
11 | g.47351293C>T | CA012189 | MYBPC3 | c.238G>A (p.Ala80Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351293_47351294delinsCG | CA1969342630 | MYBPC3 | c.237_238delinsCG (p.Tyr79=) | |
11 | g.47351294del | CA012163 | MYBPC3 | c.237del (p.Tyr79Ter) | ClinVar dbSNP |
11 | g.47351294G>A | CA049481 | MYBPC3 | c.237C>T (p.Tyr79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351294G>C | CA012155 | MYBPC3 | c.237C>G (p.Tyr79Ter) | ClinVar dbSNP |
11 | g.47351294G= | CA1969342632 | MYBPC3 | c.237C= (p.Tyr79=) | |
11 | g.47351294G>T | CA16613590 | MYBPC3 | c.237C>A (p.Tyr79Ter) | ClinVar dbSNP gnomAD v4 |
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) |