Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23424974T>A | CA389048339 | MYH7 | c.2474A>T (p.Lys825Met) n.2580A>T | |
14 | g.23424974T>C | CA012431 | MYH7 | c.2474A>G (p.Lys825Arg) n.2580A>G | dbSNP |
14 | g.23424974T>G | CA389048340 | MYH7 | c.2474A>C (p.Lys825Thr) n.2580A>C | |
14 | g.23424974T= | CA2123456491 | MYH7 | c.2474A= (p.Lys825=) n.2580A= | |
14 | g.23424975T>A | CA389048341 | MYH7 | c.2473A>T (p.Lys825Ter) n.2579A>T | |
14 | g.23424975T>C | CA389048342 | MYH7 | c.2473A>G (p.Lys825Glu) n.2579A>G | |
14 | g.23424975T>G | CA012422 | MYH7 | c.2473A>C (p.Lys825Gln) n.2579A>C | ClinVar dbSNP |
14 | g.23424975T= | CA2123456495 | MYH7 | c.2473A= (p.Lys825=) n.2579A= | |
14 | g.23424976G>A | CA012414 | MYH7 | c.2472C>T (p.Val824=) n.2578C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23424976G>C | CA033029 | MYH7 | c.2472C>G (p.Val824=) n.2578C>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
14 | g.23424976G= | CA2123456521 | MYH7 | c.2472C= (p.Val824=) n.2578C= | |
14 | g.23424976G>T | CA485766770 | MYH7 | c.2472C>A (p.Val824=) n.2578C>A | |
14 | g.23424977A= | CA2123456526 | MYH7 | c.2471T= (p.Val824=) n.2577T= | |
14 | g.23424977A>C | CA389048343 | MYH7 | c.2471T>G (p.Val824Gly) n.2577T>G | |
14 | g.23424977A>G | CA012405 | MYH7 | c.2471T>C (p.Val824Ala) n.2577T>C | ClinVar dbSNP |
14 | g.23424977A>T | CA389048344 | MYH7 | c.2471T>A (p.Val824Asp) n.2577T>A | |
14 | g.23424977_23424978delinsAC | CA2123456530 | MYH7 | c.2470_2471delinsGT (p.Val824=) n.2576_2577delinsGT | |
14 | g.23424978C>A | CA389048346 | MYH7 | c.2470G>T (p.Val824Phe) n.2576G>T | |
14 | g.23424978C= | CA2123456536 | MYH7 | c.2470G= (p.Val824=) n.2576G= | |
14 | g.23424978C>G | CA012395 | MYH7 | c.2470G>C (p.Val824Leu) n.2576G>C | ClinVar dbSNP |
14 | g.23424978C>T | CA389048345 | MYH7 | c.2470G>A (p.Val824Ile) n.2576G>A | ClinVar dbSNP |
14 | g.23424982del | CA032999 | MYH7 | c.2470del (p.Val824SerfsTer7) n.2576del | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23424979C>A | CA012386 | MYH7 | c.2469G>T (p.Gly823=) n.2575G>T | ClinVar dbSNP |
14 | g.23424979C= | CA2123456548 | MYH7 | c.2469G= (p.Gly823=) n.2575G= | |
14 | g.23424979C>G | CA485766772 | MYH7 | c.2469G>C (p.Gly823=) n.2575G>C | |
14 | g.23424979C>T | CA485766771 | MYH7 | c.2469G>A (p.Gly823=) n.2575G>A | ClinVar dbSNP gnomAD v4 COSMIC |
14 | g.23424980C>A | CA389048347 | MYH7 | c.2468G>T (p.Gly823Val) n.2574G>T | |
14 | g.23424980C= | CA2123456557 | MYH7 | c.2468G= (p.Gly823=) n.2574G= | |
14 | g.23424980C>G | CA389048348 | MYH7 | c.2468G>C (p.Gly823Ala) n.2574G>C | |
14 | g.23424980C>T | CA389048349 | MYH7 | c.2468G>A (p.Gly823Glu) n.2574G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23424981C>A | CA389048352 | MYH7 | c.2467G>T (p.Gly823Trp) n.2573G>T | COSMIC |
14 | g.23424981C= | CA2123456563 | MYH7 | c.2467G= (p.Gly823=) n.2573G= | |
14 | g.23424981C>G | CA389048351 | MYH7 | c.2467G>C (p.Gly823Arg) n.2573G>C | ClinVar dbSNP |
14 | g.23424981C>T | CA389048350 | MYH7 | c.2467G>A (p.Gly823Arg) n.2573G>A | ClinVar dbSNP |
14 | g.23424982C>A | CA389048353 | MYH7 | c.2466G>T (p.Met822Ile) n.2572G>T | COSMIC |
14 | g.23424982C>G | CA389048354 | MYH7 | c.2466G>C (p.Met822Ile) n.2572G>C | |
14 | g.23424982C>T | CA389048355 | MYH7 | c.2466G>A (p.Met822Ile) n.2572G>A | ClinVar dbSNP COSMIC |
14 | g.23424983A= | CA2123456569 | MYH7 | c.2465T= (p.Met822=) n.2571T= | |
14 | g.23424983A>C | CA389048356 | MYH7 | c.2465T>G (p.Met822Arg) n.2571T>G | |
14 | g.23424983A>G | CA389048357 | MYH7 | c.2465T>C (p.Met822Thr) n.2571T>C | ClinVar dbSNP gnomAD v4 |
14 | g.23424983A>T | CA389048358 | MYH7 | c.2465T>A (p.Met822Lys) n.2571T>A | |
14 | g.23424984T>A | CA012377 | MYH7 | c.2464A>T (p.Met822Leu) n.2570A>T | ClinVar dbSNP |
14 | g.23424984T>C | CA389048359 | MYH7 | c.2464A>G (p.Met822Val) n.2570A>G | ClinVar dbSNP |
14 | g.23424984T>G | CA012368 | MYH7 | c.2464A>C (p.Met822Leu) n.2570A>C | ClinVar dbSNP |
14 | g.23424984T= | CA2123456580 | MYH7 | c.2464A= (p.Met822=) n.2570A= | |
14 | g.23424985G>A | CA485766776 | MYH7 | c.2463C>T (p.Phe821=) n.2569C>T | dbSNP |
14 | g.23424985G>C | CA389048360 | MYH7 | c.2463C>G (p.Phe821Leu) n.2569C>G | |
14 | g.23424985G= | CA2123456602 | MYH7 | c.2463C= (p.Phe821=) n.2569C= | |
14 | g.23424985G>T | CA389048361 | MYH7 | c.2463C>A (p.Phe821Leu) n.2569C>A | |
14 | g.23424986A= | CA2123456611 | MYH7 | c.2462T= (p.Phe821=) n.2568T= |