Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47351247A= | CA1969342602 | MYBPC3 | c.284T= (p.Ile95=) | |
11 | g.47351247A>C | CA380341427 | MYBPC3 | c.284T>G (p.Ile95Arg) | |
11 | g.47351247A>G | CA013055 | MYBPC3 | c.284T>C (p.Ile95Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47351247A>T | CA380341429 | MYBPC3 | c.284T>A (p.Ile95Lys) | |
11 | g.47351248T>A | CA380341431 | MYBPC3 | c.283A>T (p.Ile95Leu) | |
11 | g.47351248T>C | CA380341434 | MYBPC3 | c.283A>G (p.Ile95Val) | dbSNP gnomAD v4 |
11 | g.47351248T>G | CA051645 | MYBPC3 | c.283A>C (p.Ile95Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47351248T= | CA1969342603 | MYBPC3 | c.283A= (p.Ile95=) | |
11 | g.47351249G>A | CA474429435 | MYBPC3 | c.282C>T (p.Val94=) | |
11 | g.47351249G>C | CA474429436 | MYBPC3 | c.282C>G (p.Val94=) | |
11 | g.47351249G>T | CA474429437 | MYBPC3 | c.282C>A (p.Val94=) | gnomAD v4 |
11 | g.47351250del | CA2695214001 | MYBPC3 | c.281del (p.Val94AlafsTer2) | |
11 | g.47351250A>C | CA380341439 | MYBPC3 | c.281T>G (p.Val94Gly) | |
11 | g.47351250A>G | CA380341441 | MYBPC3 | c.281T>C (p.Val94Ala) | gnomAD v4 |
11 | g.47351250A>T | CA380341443 | MYBPC3 | c.281T>A (p.Val94Asp) | |
11 | g.47351251C>A | CA051564 | MYBPC3 | c.280G>T (p.Val94Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47351251C= | CA1969342604 | MYBPC3 | c.280G= (p.Val94=) | |
11 | g.47351251C>G | CA380341447 | MYBPC3 | c.280G>C (p.Val94Leu) | gnomAD v4 |
11 | g.47351251C>T | CA380341448 | MYBPC3 | c.280G>A (p.Val94Ile) | gnomAD v4 |
11 | g.47351252C>A | CA380341450 | MYBPC3 | c.279G>T (p.Lys93Asn) | gnomAD v4 |
11 | g.47351252C= | CA1969342605 | MYBPC3 | c.279G= (p.Lys93=) | |
11 | g.47351252C>G | CA380341452 | MYBPC3 | c.279G>C (p.Lys93Asn) | |
11 | g.47351252C>T | CA474429443 | MYBPC3 | c.279G>A (p.Lys93=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47351253T>A | CA380341458 | MYBPC3 | c.278A>T (p.Lys93Met) | gnomAD v4 |
11 | g.47351253T>C | CA380341457 | MYBPC3 | c.278A>G (p.Lys93Arg) | gnomAD v4 |
11 | g.47351253T>G | CA380341455 | MYBPC3 | c.278A>C (p.Lys93Thr) | |
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=) |