Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47348525_47348527del | CA2613395637 | MYBPC3 | c.671_673del (p.Leu224del) | gnomAD v4 |
11 | g.47348524C>A | CA221704900 | MYBPC3 | c.672G>T (p.Leu224=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47348524C= | CA1969341074 | MYBPC3 | c.672G= (p.Leu224=) | |
11 | g.47348524C>G | CA474221430 | MYBPC3 | c.672G>C (p.Leu224=) | |
11 | g.47348524C>T | CA474221432 | MYBPC3 | c.672G>A (p.Leu224=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47348525A>C | CA380336365 | MYBPC3 | c.671T>G (p.Leu224Arg) | |
11 | g.47348525A>G | CA380336356 | MYBPC3 | c.671T>C (p.Leu224Pro) | |
11 | g.47348525A>T | CA380336361 | MYBPC3 | c.671T>A (p.Leu224Gln) | |
11 | g.47348526G>A | CA474221434 | MYBPC3 | c.670C>T (p.Leu224=) | |
11 | g.47348526G>C | CA380336368 | MYBPC3 | c.670C>G (p.Leu224Val) | |
11 | g.47348526G>T | CA380336375 | MYBPC3 | c.670C>A (p.Leu224Met) | |
11 | g.47348527del | CA2739265963 | MYBPC3 | c.669del (p.Glu223AspfsTer?) | ClinVar |
11 | g.47348527C>A | CA380336382 | MYBPC3 | c.669G>T (p.Glu223Asp) | |
11 | g.47348527C= | CA1969341075 | MYBPC3 | c.669G= (p.Glu223=) | |
11 | g.47348527C>G | CA380336386 | MYBPC3 | c.669G>C (p.Glu223Asp) | |
11 | g.47348527C>T | CA056421 | MYBPC3 | c.669G>A (p.Glu223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47348528T>A | CA380336403 | MYBPC3 | c.668A>T (p.Glu223Val) | |
11 | g.47348528T>C | CA380336406 | MYBPC3 | c.668A>G (p.Glu223Gly) | |
11 | g.47348528T>G | CA380336410 | MYBPC3 | c.668A>C (p.Glu223Ala) | |
11 | g.47348529C>A | CA380336415 | MYBPC3 | c.667G>T (p.Glu223Ter) | |
11 | g.47348529C= | CA1969341076 | MYBPC3 | c.667G= (p.Glu223=) | |
11 | g.47348529C>G | CA380336420 | MYBPC3 | c.667G>C (p.Glu223Gln) | |
11 | g.47348529C>T | CA015685 | MYBPC3 | c.667G>A (p.Glu223Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47348530G>A | CA056407 | MYBPC3 | c.666C>T (p.Phe222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47348530G>C | CA380336435 | MYBPC3 | c.666C>G (p.Phe222Leu) | |
11 | g.47348530G= | CA1969341077 | MYBPC3 | c.666C= (p.Phe222=) | |
11 | g.47348530G>T | CA380336439 | MYBPC3 | c.666C>A (p.Phe222Leu) | gnomAD v4 |
11 | g.47348531A>C | CA380336447 | MYBPC3 | c.665T>G (p.Phe222Cys) | |
11 | g.47348531A>G | CA380336450 | MYBPC3 | c.665T>C (p.Phe222Ser) | gnomAD v4 |
11 | g.47348531A>T | CA380336454 | MYBPC3 | c.665T>A (p.Phe222Tyr) | |
11 | g.47348532A>C | CA380336458 | MYBPC3 | c.664T>G (p.Phe222Val) | |
11 | g.47348532A>G | CA380336460 | MYBPC3 | c.664T>C (p.Phe222Leu) | ClinVar |
11 | g.47348532A>T | CA380336464 | MYBPC3 | c.664T>A (p.Phe222Ile) | |
11 | g.47348533C>A | CA474221435 | MYBPC3 | c.663G>T (p.Leu221=) | |
11 | g.47348533C>G | CA474221436 | MYBPC3 | c.663G>C (p.Leu221=) | ClinVar dbSNP |
11 | g.47348533C>T | CA474221437 | MYBPC3 | c.663G>A (p.Leu221=) | gnomAD v4 |
11 | g.47348534A>C | CA380336468 | MYBPC3 | c.662T>G (p.Leu221Arg) | |
11 | g.47348534A>G | CA380336473 | MYBPC3 | c.662T>C (p.Leu221Pro) | |
11 | g.47348534A>T | CA380336477 | MYBPC3 | c.662T>A (p.Leu221Gln) | |
11 | g.47348537_47348540del | CA2573051137 | MYBPC3 | c.659_662del (p.Tyr220CysfsTer?) | |
11 | g.47348535G>A | CA474221440 | MYBPC3 | c.661C>T (p.Leu221=) | |
11 | g.47348535G>C | CA380336480 | MYBPC3 | c.661C>G (p.Leu221Val) | |
11 | g.47348535G>T | CA380336484 | MYBPC3 | c.661C>A (p.Leu221Met) | |
11 | g.47348536del | CA2695213990 | MYBPC3 | c.660del (p.Leu221CysfsTer?) | ClinVar |
11 | g.47348536A= | CA1969341078 | MYBPC3 | c.660T= (p.Tyr220=) | |
11 | g.47348536A>C | CA380336488 | MYBPC3 | c.660T>G (p.Tyr220Ter) | ClinVar dbSNP |
11 | g.47348536A>G | CA474221441 | MYBPC3 | c.660T>C (p.Tyr220=) | dbSNP gnomAD v4 |
11 | g.47348536A>T | CA380336490 | MYBPC3 | c.660T>A (p.Tyr220Ter) | |
11 | g.47348537T>A | CA380336496 | MYBPC3 | c.659A>T (p.Tyr220Phe) | |
11 | g.47348537T>C | CA056395 | MYBPC3 | c.659A>G (p.Tyr220Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |