Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47351253_47351255del | CA645594751 | MYBPC3 | c.276_278del (p.Lys93del) | COSMIC COSMIC |
11 | g.47351254T>A | CA380341462 | MYBPC3 | c.277A>T (p.Lys93Ter) | |
11 | g.47351254T>C | CA380341463 | MYBPC3 | c.277A>G (p.Lys93Glu) | gnomAD v4 |
11 | g.47351254T>G | CA380341465 | MYBPC3 | c.277A>C (p.Lys93Gln) | |
11 | g.47351254_47351256delinsTGA | CA1969342606 | MYBPC3 | c.275_277delinsTCA (p.Leu92=) | |
11 | g.47351255G>A | CA474429448 | MYBPC3 | c.276C>T (p.Leu92=) | dbSNP gnomAD v4 |
11 | g.47351255G>C | CA474429449 | MYBPC3 | c.276C>G (p.Leu92=) | gnomAD v4 |
11 | g.47351255G= | CA1969342607 | MYBPC3 | c.276C= (p.Leu92=) | |
11 | g.47351255G>T | CA474429450 | MYBPC3 | c.276C>A (p.Leu92=) | gnomAD v4 |
11 | g.47351256_47351257del | CA16042751 | MYBPC3 | c.275_276del (p.Leu92GlnfsTer20) | ClinVar dbSNP |
11 | g.47351256A>C | CA380341470 | MYBPC3 | c.275T>G (p.Leu92Arg) | |
11 | g.47351256A>G | CA380341472 | MYBPC3 | c.275T>C (p.Leu92Pro) | gnomAD v4 |
11 | g.47351256A>T | CA380341474 | MYBPC3 | c.275T>A (p.Leu92His) | gnomAD v4 |
11 | g.47351257G>A | CA380341476 | MYBPC3 | c.274C>T (p.Leu92Phe) | |
11 | g.47351257G>C | CA380341477 | MYBPC3 | c.274C>G (p.Leu92Val) | |
11 | g.47351257G>T | CA380341478 | MYBPC3 | c.274C>A (p.Leu92Ile) | gnomAD v4 |
11 | g.47351258G>A | CA474429457 | MYBPC3 | c.273C>T (p.Asp91=) | |
11 | g.47351258G>C | CA380341480 | MYBPC3 | c.273C>G (p.Asp91Glu) | |
11 | g.47351258G>T | CA380341482 | MYBPC3 | c.273C>A (p.Asp91Glu) | gnomAD v4 |
11 | g.47351259T>A | CA380341489 | MYBPC3 | c.272A>T (p.Asp91Val) | |
11 | g.47351259T>C | CA380341487 | MYBPC3 | c.272A>G (p.Asp91Gly) | gnomAD v4 |
11 | g.47351259T>G | CA380341485 | MYBPC3 | c.272A>C (p.Asp91Ala) | gnomAD v4 |
11 | g.47351260C>A | CA221708573 | MYBPC3 | c.271G>T (p.Asp91Tyr) | dbSNP gnomAD v4 |
11 | g.47351260C= | CA1969342608 | MYBPC3 | c.271G= (p.Asp91=) | |
11 | g.47351260C>G | CA380341492 | MYBPC3 | c.271G>C (p.Asp91His) | |
11 | g.47351260C>T | CA051307 | MYBPC3 | c.271G>A (p.Asp91Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351261G>A | CA051267 | MYBPC3 | c.270C>T (p.Phe90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351261G>C | CA012859 | MYBPC3 | c.270C>G (p.Phe90Leu) | ClinVar dbSNP |
11 | g.47351261G= | CA1969342609 | MYBPC3 | c.270C= (p.Phe90=) | |
11 | g.47351261G>T | CA380341499 | MYBPC3 | c.270C>A (p.Phe90Leu) | gnomAD v4 |
11 | g.47351262A>C | CA380341510 | MYBPC3 | c.269T>G (p.Phe90Cys) | |
11 | g.47351262A>G | CA380341502 | MYBPC3 | c.269T>C (p.Phe90Ser) | gnomAD v4 |
11 | g.47351262A>T | CA380341504 | MYBPC3 | c.269T>A (p.Phe90Tyr) | |
11 | g.47351263A= | CA1969342610 | MYBPC3 | c.268T= (p.Phe90=) | |
11 | g.47351263A>C | CA380341511 | MYBPC3 | c.268T>G (p.Phe90Val) | |
11 | g.47351263A>G | CA380341512 | MYBPC3 | c.268T>C (p.Phe90Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.47351263A>T | CA380341513 | MYBPC3 | c.268T>A (p.Phe90Ile) | |
11 | g.47351264C>A | CA380341514 | MYBPC3 | c.267G>T (p.Lys89Asn) | gnomAD v4 |
11 | g.47351264C>G | CA380341515 | MYBPC3 | c.267G>C (p.Lys89Asn) | |
11 | g.47351264C>T | CA474429467 | MYBPC3 | c.267G>A (p.Lys89=) | |
11 | g.47351265T>A | CA380341516 | MYBPC3 | c.266A>T (p.Lys89Met) | |
11 | g.47351265T>C | CA380341518 | MYBPC3 | c.266A>G (p.Lys89Arg) | gnomAD v4 |
11 | g.47351265T>G | CA380341517 | MYBPC3 | c.266A>C (p.Lys89Thr) | |
11 | g.47351266T>A | CA380341519 | MYBPC3 | c.265A>T (p.Lys89Ter) | |
11 | g.47351266T>C | CA380341521 | MYBPC3 | c.265A>G (p.Lys89Glu) | gnomAD v4 |
11 | g.47351266T>G | CA380341522 | MYBPC3 | c.265A>C (p.Lys89Gln) | |
11 | g.47351267G>A | CA474429470 | MYBPC3 | c.264C>T (p.Val88=) | ClinVar dbSNP gnomAD v4 |
11 | g.47351267G>C | CA474429471 | MYBPC3 | c.264C>G (p.Val88=) | |
11 | g.47351267G= | CA1969342611 | MYBPC3 | c.264C= (p.Val88=) | |
11 | g.47351267G>T | CA474429472 | MYBPC3 | c.264C>A (p.Val88=) | gnomAD v4 |