Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47347670del | CA015921 | MYBPC3 | c.833del (p.Gly278GlufsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47347670C>A | CA380333605 | MYBPC3 | c.832G>T (p.Gly278Ter) | gnomAD v4 |
11 | g.47347670C>G | CA380333606 | MYBPC3 | c.832G>C (p.Gly278Arg) | |
11 | g.47347670C>T | CA380333607 | MYBPC3 | c.832G>A (p.Gly278Arg) | dbSNP gnomAD v4 |
11 | g.47347671A>C | CA474221276 | MYBPC3 | c.831T>G (p.Ala277=) | dbSNP |
11 | g.47347671A>G | CA474221277 | MYBPC3 | c.831T>C (p.Ala277=) | gnomAD v4 |
11 | g.47347671A>T | CA474221278 | MYBPC3 | c.831T>A (p.Ala277=) | |
11 | g.47347672G>A | CA380333611 | MYBPC3 | c.830C>T (p.Ala277Val) | gnomAD v4 |
11 | g.47347672G>C | CA380333612 | MYBPC3 | c.830C>G (p.Ala277Gly) | |
11 | g.47347672G>T | CA380333615 | MYBPC3 | c.830C>A (p.Ala277Asp) | gnomAD v4 |
11 | g.47347673C>A | CA380333622 | MYBPC3 | c.829G>T (p.Ala277Ser) | gnomAD v4 |
11 | g.47347673C>G | CA380333624 | MYBPC3 | c.829G>C (p.Ala277Pro) | |
11 | g.47347673C>T | CA380333620 | MYBPC3 | c.829G>A (p.Ala277Thr) | gnomAD v4 |
11 | g.47347674del | CA2613394313 | MYBPC3 | c.829del (p.Ala277LeufsTer23) | gnomAD v4 |
11 | g.47347674C>A | CA474221280 | MYBPC3 | c.828G>T (p.Leu276=) | gnomAD v4 |
11 | g.47347674C>G | CA474221281 | MYBPC3 | c.828G>C (p.Leu276=) | |
11 | g.47347674C>T | CA474221282 | MYBPC3 | c.828G>A (p.Leu276=) | ClinVar gnomAD v4 |
11 | g.47347675A>C | CA380333631 | MYBPC3 | c.827T>G (p.Leu276Arg) | |
11 | g.47347675A>G | CA380333627 | MYBPC3 | c.827T>C (p.Leu276Pro) | gnomAD v4 |
11 | g.47347675A>T | CA380333628 | MYBPC3 | c.827T>A (p.Leu276Gln) | |
11 | g.47347676G>A | CA474221283 | MYBPC3 | c.826C>T (p.Leu276=) | ClinVar dbSNP gnomAD v4 |
11 | g.47347676G>C | CA380333634 | MYBPC3 | c.826C>G (p.Leu276Val) | gnomAD v4 |
11 | g.47347676G>T | CA380333638 | MYBPC3 | c.826C>A (p.Leu276Met) | |
11 | g.47347677G>A | CA474221284 | MYBPC3 | c.825C>T (p.Ser275=) | gnomAD v4 |
11 | g.47347677G>C | CA380333649 | MYBPC3 | c.825C>G (p.Ser275Arg) | |
11 | g.47347677G>T | CA380333655 | MYBPC3 | c.825C>A (p.Ser275Arg) | gnomAD v4 |
11 | g.47347678C>A | CA380333656 | MYBPC3 | c.824G>T (p.Ser275Ile) | gnomAD v4 |
11 | g.47347678C>G | CA380333657 | MYBPC3 | c.824G>C (p.Ser275Thr) | gnomAD v4 |
11 | g.47347678C>T | CA380333658 | MYBPC3 | c.824G>A (p.Ser275Asn) | |
11 | g.47347679T>A | CA380333659 | MYBPC3 | c.823A>T (p.Ser275Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47347679T>C | CA380333660 | MYBPC3 | c.823A>G (p.Ser275Gly) | ClinVar gnomAD v4 |
11 | g.47347679T>G | CA380333661 | MYBPC3 | c.823A>C (p.Ser275Arg) | |
11 | g.47347679T= | CA1969340510 | MYBPC3 | c.823A= (p.Ser275=) | |
11 | g.47347680C>A | CA474221288 | MYBPC3 | c.822G>T (p.Thr274=) | gnomAD v4 |
11 | g.47347680C= | CA1969340511 | MYBPC3 | c.822G= (p.Thr274=) | |
11 | g.47347680C>G | CA474221289 | MYBPC3 | c.822G>C (p.Thr274=) | |
11 | g.47347680C>T | CA057017 | MYBPC3 | c.822G>A (p.Thr274=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47347681C>A | CA380333666 | MYBPC3 | c.822-1G>T (n.822-1G>T) | gnomAD v4 |
11 | g.47347681C= | CA1969340512 | MYBPC3 | c.822-1G= (n.822-1G=) | |
11 | g.47347681C>G | CA380333664 | MYBPC3 | c.822-1G>C (n.822-1G>C) | |
11 | g.47347681C>T | CA380333665 | MYBPC3 | c.822-1G>A (n.822-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47347682del | CA2613394340 | MYBPC3 | c.822-2del (n.822-2del) | gnomAD v4 |
11 | g.47347682T>A | CA380333669 | MYBPC3 | c.822-2A>T (n.822-2A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.47347682T>C | CA380333671 | MYBPC3 | c.822-2A>G (n.822-2A>G) | gnomAD v4 |
11 | g.47347682T>G | CA380333673 | MYBPC3 | c.822-2A>C (n.822-2A>C) | |
11 | g.47347682T= | CA1969340513 | MYBPC3 | c.822-2A= (n.822-2A=) | |
11 | g.47347683G>A | CA015918 | MYBPC3 | c.822-3C>T (n.822-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47347683G>C | CA1969340515 | MYBPC3 | c.822-3C>G (n.822-3C>G) | dbSNP |
11 | g.47347683G= | CA1969340514 | MYBPC3 | c.822-3C= (n.822-3C=) | |
11 | g.47347683G>T | CA2613394347 | MYBPC3 | c.822-3C>A (n.822-3C>A) | gnomAD v4 |