Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
11 | g.47351268A= | CA1969342612 | MYBPC3 | c.263T= (p.Val88=) | |
11 | g.47351268A>C | CA380341524 | MYBPC3 | c.263T>G (p.Val88Gly) | |
11 | g.47351268A>G | CA380341527 | MYBPC3 | c.263T>C (p.Val88Ala) | gnomAD v4 |
11 | g.47351268A>T | CA012782 | MYBPC3 | c.263T>A (p.Val88Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47351268_47351279delinsACCTTGGAGGAG | CA1969342613 | MYBPC3 | c.252_263delinsCTCCTCCAAGGT (p.Gly84=) | |
11 | g.47351269C>A | CA380341532 | MYBPC3 | c.262G>T (p.Val88Phe) | gnomAD v4 |
11 | g.47351269C>G | CA380341533 | MYBPC3 | c.262G>C (p.Val88Leu) | |
11 | g.47351269C>T | CA380341535 | MYBPC3 | c.262G>A (p.Val88Ile) | gnomAD v4 |
11 | g.47351271_47351281del | CA1139661948 | MYBPC3 | c.252_262del (p.Ser85GlnfsTer24) | ClinVar dbSNP |
11 | g.47351270C>A | CA380341536 | MYBPC3 | c.261G>T (p.Lys87Asn) | gnomAD v4 |
11 | g.47351270C= | CA1969342614 | MYBPC3 | c.261G= (p.Lys87=) | |
11 | g.47351270C>G | CA380341537 | MYBPC3 | c.261G>C (p.Lys87Asn) | |
11 | g.47351270C>T | CA474429476 | MYBPC3 | c.261G>A (p.Lys87=) | dbSNP gnomAD v4 |
11 | g.47351271T>A | CA380341541 | MYBPC3 | c.260A>T (p.Lys87Met) | |
11 | g.47351271T>C | CA380341543 | MYBPC3 | c.260A>G (p.Lys87Arg) | |
11 | g.47351271T>G | CA380341539 | MYBPC3 | c.260A>C (p.Lys87Thr) | |
11 | g.47351271_47351274delinsTTGG | CA1969342615 | MYBPC3 | c.257_260delinsCCAA (p.Ser86=) | |
11 | g.47351272T>A | CA380341546 | MYBPC3 | c.259A>T (p.Lys87Ter) | |
11 | g.47351272T>C | CA380341549 | MYBPC3 | c.259A>G (p.Lys87Glu) | |
11 | g.47351272T>G | CA380341547 | MYBPC3 | c.259A>C (p.Lys87Gln) | |
11 | g.47351272_47351274delinsCCTCC | CA16613417 | MYBPC3 | c.257_259delinsGGAGG (p.Ser86TrpfsTer11) | ClinVar dbSNP |
11 | g.47351273G>A | CA474429478 | MYBPC3 | c.258C>T (p.Ser86=) | gnomAD v4 |
11 | g.47351273G>C | CA474429479 | MYBPC3 | c.258C>G (p.Ser86=) | ClinVar |
11 | g.47351273G>T | CA474429480 | MYBPC3 | c.258C>A (p.Ser86=) | gnomAD v4 |
11 | g.47351277_47351279del | CA2695214002 | MYBPC3 | c.256_258del (p.Ser86del) | |
11 | g.47351274G>A | CA380341552 | MYBPC3 | c.257C>T (p.Ser86Phe) | gnomAD v4 COSMIC |
11 | g.47351274G>C | CA050638 | MYBPC3 | c.257C>G (p.Ser86Cys) | dbSNP ExAC gnomAD v4 |
11 | g.47351274G= | CA1969342616 | MYBPC3 | c.257C= (p.Ser86=) | |
11 | g.47351274G>T | CA380341554 | MYBPC3 | c.257C>A (p.Ser86Tyr) | gnomAD v4 |
11 | g.47351275del | CA2697548562 | MYBPC3 | c.256del (p.Ser86ProfsTer10) | ClinVar |
11 | g.47351275A= | CA1969342617 | MYBPC3 | c.256T= (p.Ser86=) | |
11 | g.47351275A>C | CA380341557 | MYBPC3 | c.256T>G (p.Ser86Ala) | |
11 | g.47351275A>G | CA380341559 | MYBPC3 | c.256T>C (p.Ser86Pro) | gnomAD v4 |
11 | g.47351275A>T | CA380341562 | MYBPC3 | c.256T>A (p.Ser86Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47351276G>A | CA474429586 | MYBPC3 | c.255C>T (p.Ser85=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47351276G>C | CA474429587 | MYBPC3 | c.255C>G (p.Ser85=) | |
11 | g.47351276G= | CA1969342618 | MYBPC3 | c.255C= (p.Ser85=) |