UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.10404337_10404338delinsAC | CA2247220212 | MYH8,MYHAS | c.2680_2681delinsGT (p.Val894=) n.77-1811_77-1810delinsAC c.2776_2777delinsGT (p.Val926=) | |
| 17 | g.10404338C>A | CA398112946 | MYH8,MYHAS | c.2680G>T (p.Val894Phe) n.77-1810C>A c.2776G>T (p.Val926Phe) | |
| 17 | g.10404338C= | CA2247220213 | MYH8,MYHAS | c.2680G= (p.Val894=) n.77-1810C= c.2776G= (p.Val926=) | |
| 17 | g.10404338C>G | CA398112948 | MYH8,MYHAS | c.2680G>C (p.Val894Leu) n.77-1810C>G c.2776G>C (p.Val926Leu) | |
| 17 | g.10404338C>T | CA8387722 | MYH8,MYHAS | c.2680G>A (p.Val894Ile) n.77-1810C>T c.2776G>A (p.Val926Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.10404339del | CA725946847 | MYH8,MYHAS | c.2680del (p.Val894PhefsTer18) n.77-1809del c.2776del (p.Val926PhefsTer18) | dbSNP |
| 17 | g.10404339C>A | CA398112967 | MYH8,MYHAS | c.2679G>T (p.Gln893His) n.77-1809C>A c.2775G>T (p.Gln925His) | |
| 17 | g.10404339C>G | CA398112974 | MYH8,MYHAS | c.2679G>C (p.Gln893His) n.77-1809C>G c.2775G>C (p.Gln925His) | |
| 17 | g.10404339C>T | CA497971127 | MYH8,MYHAS | c.2679G>A (p.Gln893=) n.77-1809C>T c.2775G>A (p.Gln925=) | |
| 17 | g.10404340T>A | CA398112986 | MYH8,MYHAS | c.2678A>T (p.Gln893Leu) n.77-1808T>A c.2774A>T (p.Gln925Leu) | |
| 17 | g.10404340T>C | CA398112990 | MYH8,MYHAS | c.2678A>G (p.Gln893Arg) n.77-1808T>C c.2774A>G (p.Gln925Arg) | gnomAD v4 |
| 17 | g.10404340T>G | CA398112980 | MYH8,MYHAS | c.2678A>C (p.Gln893Pro) n.77-1808T>G c.2774A>C (p.Gln925Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.10404340T= | CA2247220214 | MYH8,MYHAS | c.2678A= (p.Gln893=) n.77-1808T= c.2774A= (p.Gln925=) | |
| 17 | g.10404341G>A | CA398112997 | MYH8,MYHAS | c.2677C>T (p.Gln893Ter) n.77-1807G>A c.2773C>T (p.Gln925Ter) | COSMIC |
| 17 | g.10404341G>C | CA398112998 | MYH8,MYHAS | c.2677C>G (p.Gln893Glu) n.77-1807G>C c.2773C>G (p.Gln925Glu) | |
| 17 | g.10404341G>T | CA398113001 | MYH8,MYHAS | c.2677C>A (p.Gln893Lys) n.77-1807G>T c.2773C>A (p.Gln925Lys) | |
| 17 | g.10404342G>A | CA497971132 | MYH8,MYHAS | c.2676C>T (p.Leu892=) n.77-1806G>A c.2772C>T (p.Leu924=) | |
| 17 | g.10404342G>C | CA497971133 | MYH8,MYHAS | c.2676C>G (p.Leu892=) n.77-1806G>C c.2772C>G (p.Leu924=) | |
| 17 | g.10404342G>T | CA497971135 | MYH8,MYHAS | c.2676C>A (p.Leu892=) n.77-1806G>T c.2772C>A (p.Leu924=) | |
| 17 | g.10404343A>C | CA398113006 | MYH8,MYHAS | c.2675T>G (p.Leu892Arg) n.77-1805A>C c.2771T>G (p.Leu924Arg) | |
| 17 | g.10404343A>G | CA398113010 | MYH8,MYHAS | c.2675T>C (p.Leu892Pro) n.77-1805A>G c.2771T>C (p.Leu924Pro) | |
| 17 | g.10404343A>T | CA398113014 | MYH8,MYHAS | c.2675T>A (p.Leu892His) n.77-1805A>T c.2771T>A (p.Leu924His) | |
| 17 | g.10404344G>A | CA398113023 | MYH8,MYHAS | c.2674C>T (p.Leu892Phe) n.77-1804G>A c.2770C>T (p.Leu924Phe) | |
| 17 | g.10404344G>C | CA398113017 | MYH8,MYHAS | c.2674C>G (p.Leu892Val) n.77-1804G>C c.2770C>G (p.Leu924Val) | |
| 17 | g.10404344G>T | CA398113021 | MYH8,MYHAS | c.2674C>A (p.Leu892Ile) n.77-1804G>T c.2770C>A (p.Leu924Ile) | |
| 17 | g.10404345T>A | CA398113029 | MYH8,MYHAS | c.2673A>T (p.Gln891His) n.77-1803T>A c.2769A>T (p.Gln923His) | |
| 17 | g.10404345T>C | CA497971141 | MYH8,MYHAS | c.2673A>G (p.Gln891=) n.77-1803T>C c.2769A>G (p.Gln923=) | gnomAD v4 COSMIC |
| 17 | g.10404345T>G | CA398113036 | MYH8,MYHAS | c.2673A>C (p.Gln891His) n.77-1803T>G c.2769A>C (p.Gln923His) | |
| 17 | g.10404346T>A | CA398113041 | MYH8,MYHAS | c.2672A>T (p.Gln891Leu) n.77-1802T>A c.2768A>T (p.Gln923Leu) | |
| 17 | g.10404346T>C | CA398113046 | MYH8,MYHAS | c.2672A>G (p.Gln891Arg) n.77-1802T>C c.2768A>G (p.Gln923Arg) | |
| 17 | g.10404346T>G | CA398113049 | MYH8,MYHAS | c.2672A>C (p.Gln891Pro) n.77-1802T>G c.2768A>C (p.Gln923Pro) | |
| 17 | g.10404347G>A | CA398113055 | MYH8,MYHAS | c.2671C>T (p.Gln891Ter) n.77-1801G>A c.2767C>T (p.Gln923Ter) | |
| 17 | g.10404347G>C | CA398113067 | MYH8,MYHAS | c.2671C>G (p.Gln891Glu) n.77-1801G>C c.2767C>G (p.Gln923Glu) | |
| 17 | g.10404347G= | CA2247220215 | MYH8,MYHAS | c.2671C= (p.Gln891=) n.77-1801G= c.2767C= (p.Gln923=) | |
| 17 | g.10404347G>T | CA398113058 | MYH8,MYHAS | c.2671C>A (p.Gln891Lys) n.77-1801G>T c.2767C>A (p.Gln923Lys) | dbSNP gnomAD v2 |
| 17 | g.10404348C>A | CA497971146 | MYH8,MYHAS | c.2670G>T (p.Leu890=) n.77-1800C>A c.2766G>T (p.Leu922=) | gnomAD v4 |
| 17 | g.10404348C= | CA2247220216 | MYH8,MYHAS | c.2670G= (p.Leu890=) n.77-1800C= c.2766G= (p.Leu922=) | |
| 17 | g.10404348C>G | CA497971148 | MYH8,MYHAS | c.2670G>C (p.Leu890=) n.77-1800C>G c.2766G>C (p.Leu922=) | |
| 17 | g.10404348C>T | CA8387723 | MYH8,MYHAS | c.2670G>A (p.Leu890=) n.77-1800C>T c.2766G>A (p.Leu922=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.10404349A>C | CA398113090 | MYH8,MYHAS | c.2669T>G (p.Leu890Arg) n.77-1799A>C c.2765T>G (p.Leu922Arg) | |
| 17 | g.10404349A>G | CA398113093 | MYH8,MYHAS | c.2669T>C (p.Leu890Pro) n.77-1799A>G c.2765T>C (p.Leu922Pro) | |
| 17 | g.10404349A>T | CA398113098 | MYH8,MYHAS | c.2669T>A (p.Leu890Gln) n.77-1799A>T c.2765T>A (p.Leu922Gln) | |
| 17 | g.10404350G>A | CA497971151 | MYH8,MYHAS | c.2668C>T (p.Leu890=) n.77-1798G>A c.2764C>T (p.Leu922=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10404350G>C | CA398113099 | MYH8,MYHAS | c.2668C>G (p.Leu890Val) n.77-1798G>C c.2764C>G (p.Leu922Val) | gnomAD v4 |
| 17 | g.10404350G= | CA2247220217 | MYH8,MYHAS | c.2668C= (p.Leu890=) n.77-1798G= c.2764C= (p.Leu922=) | |
| 17 | g.10404350G>T | CA398113100 | MYH8,MYHAS | c.2668C>A (p.Leu890Met) n.77-1798G>T c.2764C>A (p.Leu922Met) | |
| 17 | g.10404351G>A | CA8387724 | MYH8,MYHAS | c.2667C>T (p.Asp889=) n.77-1797G>A c.2763C>T (p.Asp921=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10404351G>C | CA398113102 | MYH8,MYHAS | c.2667C>G (p.Asp889Glu) n.77-1797G>C c.2763C>G (p.Asp921Glu) | |
| 17 | g.10404351G= | CA2247220218 | MYH8,MYHAS | c.2667C= (p.Asp889=) n.77-1797G= c.2763C= (p.Asp921=) | |
| 17 | g.10404351G>T | CA398113104 | MYH8,MYHAS | c.2667C>A (p.Asp889Glu) n.77-1797G>T c.2763C>A (p.Asp921Glu) | gnomAD v4 |