| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.54650472A>C | CA409691623 | DOK5 | c.914A>C (p.Glu305Ala) c.590A>C (p.Glu197Ala) c.878A>C (p.Glu293Ala) | |
| 20 | g.54650472A>G | CA409691624 | DOK5 | c.914A>G (p.Glu305Gly) c.590A>G (p.Glu197Gly) c.878A>G (p.Glu293Gly) | dbSNP |
| 20 | g.54650472A>T | CA409691625 | DOK5 | c.914A>T (p.Glu305Val) c.590A>T (p.Glu197Val) c.878A>T (p.Glu293Val) | |
| 20 | g.54650473G>A | CA510995055 | DOK5 | c.915G>A (p.Glu305=) c.591G>A (p.Glu197=) c.879G>A (p.Glu293=) | |
| 20 | g.54650473G>C | CA409691626 | DOK5 | c.915G>C (p.Glu305Asp) c.591G>C (p.Glu197Asp) c.879G>C (p.Glu293Asp) | |
| 20 | g.54650473G>T | CA409691627 | DOK5 | c.915G>T (p.Glu305Asp) c.591G>T (p.Glu197Asp) c.879G>T (p.Glu293Asp) | |
| 20 | g.54650474C>A | CA409691628 | DOK5 | c.916C>A (p.His306Asn) c.592C>A (p.His198Asn) c.880C>A (p.His294Asn) | |
| 20 | g.54650474C>G | CA409691629 | DOK5 | c.916C>G (p.His306Asp) c.592C>G (p.His198Asp) c.880C>G (p.His294Asp) | gnomAD v4 |
| 20 | g.54650474C>T | CA409691630 | DOK5 | c.916C>T (p.His306Tyr) c.592C>T (p.His198Tyr) c.880C>T (p.His294Tyr) | gnomAD v4 |
| 20 | g.54650475A= | CA2370487854 | DOK5 | c.917A= (p.His306=) c.593A= (p.His198=) c.881A= (p.His294=) | |
| 20 | g.54650475A>C | CA9916726 | DOK5 | c.917A>C (p.His306Pro) c.593A>C (p.His198Pro) c.881A>C (p.His294Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650475A>G | CA9916725 | DOK5 | c.917A>G (p.His306Arg) c.593A>G (p.His198Arg) c.881A>G (p.His294Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650475A>T | CA409691631 | DOK5 | c.917A>T (p.His306Leu) c.593A>T (p.His198Leu) c.881A>T (p.His294Leu) | |
| 20 | g.54650476C>A | CA409691632 | DOK5 | c.918C>A (p.His306Gln) c.594C>A (p.His198Gln) c.882C>A (p.His294Gln) | |
| 20 | g.54650476C>G | CA409691633 | DOK5 | c.918C>G (p.His306Gln) c.594C>G (p.His198Gln) c.882C>G (p.His294Gln) | |
| 20 | g.54650476C>T | CA510995056 | DOK5 | c.918C>T (p.His306=) c.594C>T (p.His198=) c.882C>T (p.His294=) | |
| 20 | g.54650477T>A | CA409691634 | DOK5 | c.919T>A (p.Ter307Arg) c.595T>A (p.Ter199Arg) c.883T>A (p.Ter295Arg) | |
| 20 | g.54650477T>C | CA409691635 | DOK5 | c.919T>C (p.Ter307Arg) c.595T>C (p.Ter199Arg) c.883T>C (p.Ter295Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54650477T>G | CA409691636 | DOK5 | c.919T>G (p.Ter307Gly) c.595T>G (p.Ter199Gly) c.883T>G (p.Ter295Gly) | |
| 20 | g.54650477T= | CA2370487855 | DOK5 | c.919T= (p.Ter307=) c.595T= (p.Ter199=) c.883T= (p.Ter295=) | |
| 20 | g.54650478G>A | CA510995057 | DOK5 | c.920G>A (p.Ter307=) c.596G>A (p.Ter199=) c.884G>A (p.Ter295=) | |
| 20 | g.54650478G>C | CA409691637 | DOK5 | c.920G>C (p.Ter307Ser) c.596G>C (p.Ter199Ser) c.884G>C (p.Ter295Ser) | |
| 20 | g.54650478G>T | CA409691638 | DOK5 | c.920G>T (p.Ter307Leu) c.596G>T (p.Ter199Leu) c.884G>T (p.Ter295Leu) | |
| 20 | g.54650479A>C | CA409691639 | DOK5 | c.921A>C (p.Ter307Cys) c.597A>C (p.Ter199Cys) c.885A>C (p.Ter295Cys) | gnomAD v4 |
| 20 | g.54650479A>G | CA409691640 | DOK5 | c.921A>G (p.Ter307Trp) c.597A>G (p.Ter199Trp) c.885A>G (p.Ter295Trp) | |
| 20 | g.54650479A>T | CA409691641 | DOK5 | c.921A>T (p.Ter307Cys) c.597A>T (p.Ter199Cys) c.885A>T (p.Ter295Cys) | gnomAD v4 COSMIC |
| 20 | g.54650480C= | CA2370487856 | DOK5 | c.*1C= (n.*1C=) | |
| 20 | g.54650480C>G | CA9916727 | DOK5 | c.*1C>G (n.*1C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650480C>T | CA2653399152 | DOK5 | c.*1C>T (n.*1C>T) | gnomAD v4 |
| 20 | g.54650483T>G | CA2370487858 | DOK5 | c.*4T>G (n.*4T>G) | dbSNP gnomAD v4 |
| 20 | g.54650483T= | CA2370487857 | DOK5 | c.*4T= (n.*4T=) | |
| 20 | g.54650484A>G | CA2653399153 | DOK5 | c.*5A>G (n.*5A>G) | gnomAD v4 |
| 20 | g.54650487T>G | CA2653399154 | DOK5 | c.*8T>G (n.*8T>G) | gnomAD v4 |
| 20 | g.54650488G>A | CA636385485 | DOK5 | c.*9G>A (n.*9G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54650488G= | CA2370487859 | DOK5 | c.*9G= (n.*9G=) | |
| 20 | g.54650488G>T | CA2653399155 | DOK5 | c.*9G>T (n.*9G>T) | gnomAD v4 |
| 20 | g.54650489C>A | CA636385486 | DOK5 | c.*10C>A (n.*10C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54650489C= | CA2370487860 | DOK5 | c.*10C= (n.*10C=) | |
| 20 | g.54650490C>A | CA9916728 | DOK5 | c.*11C>A (n.*11C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650490C= | CA2370487861 | DOK5 | c.*11C= (n.*11C=) | |
| 20 | g.54650490C>T | CA316539584 | DOK5 | c.*11C>T (n.*11C>T) | dbSNP gnomAD v4 |
| 20 | g.54650491A>G | CA2594635655 | DOK5 | c.*12A>G (n.*12A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650493G>A | CA2736848514 | DOK5 | c.*14G>A (n.*14G>A) | dbSNP |
| 20 | g.54650493G= | CA2370487862 | DOK5 | c.*14G= (n.*14G=) | |
| 20 | g.54650493G>T | CA745649928 | DOK5 | c.*14G>T (n.*14G>T) | dbSNP gnomAD v4 |
| 20 | g.54650496T>C | CA9916729 | DOK5 | c.*17T>C (n.*17T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650496T= | CA2370487863 | DOK5 | c.*17T= (n.*17T=) | |
| 20 | g.54650498G>A | CA2524366366 | DOK5 | c.*19G>A (n.*19G>A) | gnomAD v4 |
| 20 | g.54650498G>T | CA2653399156 | DOK5 | c.*19G>T (n.*19G>T) | gnomAD v4 |
| 20 | g.54650501A>G | CA2741675605 | DOK5 | c.*22A>G (n.*22A>G) |