| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.54650468T>A | CA409691615 | DOK5 | c.910T>A (p.Ser304Thr) c.586T>A (p.Ser196Thr) c.874T>A (p.Ser292Thr) | |
| 20 | g.54650468T>C | CA9916724 | DOK5 | c.910T>C (p.Ser304Pro) c.586T>C (p.Ser196Pro) c.874T>C (p.Ser292Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650468T>G | CA409691616 | DOK5 | c.910T>G (p.Ser304Ala) c.586T>G (p.Ser196Ala) c.874T>G (p.Ser292Ala) | |
| 20 | g.54650468T= | CA2370487852 | DOK5 | c.910T= (p.Ser304=) c.586T= (p.Ser196=) c.874T= (p.Ser292=) | |
| 20 | g.54650469C>A | CA409691618 | DOK5 | c.911C>A (p.Ser304Tyr) c.587C>A (p.Ser196Tyr) c.875C>A (p.Ser292Tyr) | |
| 20 | g.54650469C>G | CA409691619 | DOK5 | c.911C>G (p.Ser304Cys) c.587C>G (p.Ser196Cys) c.875C>G (p.Ser292Cys) | |
| 20 | g.54650469C>T | CA409691617 | DOK5 | c.911C>T (p.Ser304Phe) c.587C>T (p.Ser196Phe) c.875C>T (p.Ser292Phe) | |
| 20 | g.54650470T>A | CA510995052 | DOK5 | c.912T>A (p.Ser304=) c.588T>A (p.Ser196=) c.876T>A (p.Ser292=) | |
| 20 | g.54650470T>C | CA510995053 | DOK5 | c.912T>C (p.Ser304=) c.588T>C (p.Ser196=) c.876T>C (p.Ser292=) | gnomAD v4 |
| 20 | g.54650470T>G | CA510995054 | DOK5 | c.912T>G (p.Ser304=) c.588T>G (p.Ser196=) c.876T>G (p.Ser292=) | |
| 20 | g.54650471G>A | CA409691620 | DOK5 | c.913G>A (p.Glu305Lys) c.589G>A (p.Glu197Lys) c.877G>A (p.Glu293Lys) | gnomAD v4 |
| 20 | g.54650471G>C | CA409691621 | DOK5 | c.913G>C (p.Glu305Gln) c.589G>C (p.Glu197Gln) c.877G>C (p.Glu293Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650471G= | CA2370487853 | DOK5 | c.913G= (p.Glu305=) c.589G= (p.Glu197=) c.877G= (p.Glu293=) | |
| 20 | g.54650471G>T | CA409691622 | DOK5 | c.913G>T (p.Glu305Ter) c.589G>T (p.Glu197Ter) c.877G>T (p.Glu293Ter) | |
| 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.54650486C>T | CA2816747374 | DOK5 | c.*7C>T (n.*7C>T) | |
| 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>C | CA2816747375 | DOK5 | c.*19G>C (n.*19G>C) | |
| 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) | |
| 20 | g.54650503C= | CA2370487864 | DOK5 | c.*24C= (n.*24C=) | |
| 20 | g.54650503C>T | CA636385488 | DOK5 | c.*24C>T (n.*24C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650505C>A | CA2653399157 | DOK5 | c.*26C>A (n.*26C>A) | gnomAD v4 |
| 20 | g.54650505C= | CA2370487865 | DOK5 | c.*26C= (n.*26C=) | |
| 20 | g.54650505C>T | CA316539585 | DOK5 | c.*26C>T (n.*26C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54650506A= | CA2370487866 | DOK5 | c.*27A= (n.*27A=) | |
| 20 | g.54650506A>G | CA9916730 | DOK5 | c.*27A>G (n.*27A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650506A>T | CA2653399158 | DOK5 | c.*27A>T (n.*27A>T) | gnomAD v4 |
| 20 | g.54650507C>A | CA2653399159 | DOK5 | c.*28C>A (n.*28C>A) | gnomAD v4 |
| 20 | g.54650507C= | CA2370487867 | DOK5 | c.*28C= (n.*28C=) | |
| 20 | g.54650507C>G | CA316539586 | DOK5 | c.*28C>G (n.*28C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650507C>T | CA2653399160 | DOK5 | c.*28C>T (n.*28C>T) | gnomAD v4 |
| 20 | g.54650509T>A | CA9916731 | DOK5 | c.*30T>A (n.*30T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650509T= | CA2370487868 | DOK5 | c.*30T= (n.*30T=) | |
| 20 | g.54650510G>A | CA2737117668 | DOK5 | c.*31G>A (n.*31G>A) | dbSNP |
| 20 | g.54650510G>C | CA657942631 | DOK5 | c.*31G>C (n.*31G>C) | COSMIC |
| 20 | g.54650511T>C | CA2737117670 | DOK5 | c.*32T>C (n.*32T>C) | dbSNP |
| 20 | g.54650512G>A | CA9916732 | DOK5 | c.*33G>A (n.*33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650512G= | CA2370487869 | DOK5 | c.*33G= (n.*33G=) | |
| 20 | g.54650513A= | CA2370487870 | DOK5 | c.*34A= (n.*34A=) | |
| 20 | g.54650513A>T | CA2370487871 | DOK5 | c.*34A>T (n.*34A>T) | dbSNP |
| 20 | g.54650515G>A | CA9916733 | DOK5 | c.*36G>A (n.*36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650515G= | CA2370487872 | DOK5 | c.*36G= (n.*36G=) | |
| 20 | g.54650515G>T | CA2653399161 | DOK5 | c.*36G>T (n.*36G>T) | gnomAD v4 |
| 20 | g.54650516T>A | CA1018606231 | DOK5 | c.*37T>A (n.*37T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650516T>C | CA2653399162 | DOK5 | c.*37T>C (n.*37T>C) | gnomAD v4 |
| 20 | g.54650516T= | CA2370487873 | DOK5 | c.*37T= (n.*37T=) | |
| 20 | g.54650517G>A | CA2577430267 | DOK5 | c.*38G>A (n.*38G>A) | |
| 20 | g.54650519C>A | CA2653399163 | DOK5 | c.*40C>A (n.*40C>A) | gnomAD v4 |
| 20 | g.54650520A>G | CA2653399164 | DOK5 | c.*41A>G (n.*41A>G) | gnomAD v4 |
| 20 | g.54650521G>A | CA2653399165 | DOK5 | c.*42G>A (n.*42G>A) | gnomAD v4 |
| 20 | g.54650521G>T | CA2653399166 | DOK5 | c.*42G>T (n.*42G>T) | gnomAD v4 |
| 20 | g.54650522C>A | CA2653399167 | DOK5 | c.*43C>A (n.*43C>A) | gnomAD v4 |
| 20 | g.54650523C>A | CA2577430268 | DOK5 | c.*44C>A (n.*44C>A) | gnomAD v4 |
| 20 | g.54650523C= | CA2370487874 | DOK5 | c.*44C= (n.*44C=) | |
| 20 | g.54650523C>G | CA636385498 | DOK5 | c.*44C>G (n.*44C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.54650523C>T | CA2653399168 | DOK5 | c.*44C>T (n.*44C>T) | gnomAD v4 |
| 20 | g.54650524A>G | CA2653399169 | DOK5 | c.*45A>G (n.*45A>G) | gnomAD v4 |
| 20 | g.54650525C>A | CA2653399170 | DOK5 | c.*46C>A (n.*46C>A) | gnomAD v4 |
| 20 | g.54650526A= | CA2370487875 | DOK5 | c.*47A= (n.*47A=) | |
| 20 | g.54650526A>C | CA745649949 | DOK5 | c.*47A>C (n.*47A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650526A>G | CA1018606233 | DOK5 | c.*47A>G (n.*47A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650527G>C | CA745649960 | DOK5 | c.*48G>C (n.*48G>C) | dbSNP |
| 20 | g.54650527G= | CA2370487876 | DOK5 | c.*48G= (n.*48G=) | |
| 20 | g.54650527G>T | CA2653399171 | DOK5 | c.*48G>T (n.*48G>T) | gnomAD v4 |
| 20 | g.54650528A= | CA2370487877 | DOK5 | c.*49A= (n.*49A=) | |
| 20 | g.54650528A>T | CA9916734 | DOK5 | c.*49A>T (n.*49A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54650530T>C | CA745649967 | DOK5 | c.*51T>C (n.*51T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650530T= | CA2370487878 | DOK5 | c.*51T= (n.*51T=) | |
| 20 | g.54650531C>A | CA2653399172 | DOK5 | c.*52C>A (n.*52C>A) | gnomAD v4 |
| 20 | g.54650531C>G | CA2653399173 | DOK5 | c.*52C>G (n.*52C>G) | gnomAD v4 |
| 20 | g.54650535del | CA2653399174 | DOK5 | c.*56del (n.*56del) | gnomAD v4 |
| 20 | g.54650534C>A | CA2653399175 | DOK5 | c.*55C>A (n.*55C>A) | gnomAD v4 |
| 20 | g.54650534C= | CA2370487879 | DOK5 | c.*55C= (n.*55C=) | |
| 20 | g.54650534C>G | CA1018606236 | DOK5 | c.*55C>G (n.*55C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650535C>A | CA2577430269 | DOK5 | c.*56C>A (n.*56C>A) | gnomAD v4 |
| 20 | g.54650535C>T | CA2577430270 | DOK5 | c.*56C>T (n.*56C>T) | |
| 20 | g.54650536A>G | CA2653399176 | DOK5 | c.*57A>G (n.*57A>G) | gnomAD v4 |
| 20 | g.54650537G>C | CA1018606243 | DOK5 | c.*58G>C (n.*58G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650537G= | CA2370487880 | DOK5 | c.*58G= (n.*58G=) | |
| 20 | g.54650537G>T | CA2653399177 | DOK5 | c.*58G>T (n.*58G>T) | gnomAD v4 |
| 20 | g.54650541G>A | CA2653399178 | DOK5 | c.*62G>A (n.*62G>A) | gnomAD v4 |
| 20 | g.54650541G>T | CA2653399179 | DOK5 | c.*62G>T (n.*62G>T) | gnomAD v4 |
| 20 | g.54650542T>C | CA2653399180 | DOK5 | c.*63T>C (n.*63T>C) | gnomAD v4 |
| 20 | g.54650543C>A | CA2653399181 | DOK5 | c.*64C>A (n.*64C>A) | gnomAD v4 |
| 20 | g.54650545C>A | CA2653399182 | DOK5 | c.*66C>A (n.*66C>A) | gnomAD v4 |
| 20 | g.54650545C>T | CA2653399183 | DOK5 | c.*66C>T (n.*66C>T) | gnomAD v4 |
| 20 | g.54650547G>A | CA2653399184 | DOK5 | c.*68G>A (n.*68G>A) | gnomAD v4 |
| 20 | g.54650547G>T | CA2653399185 | DOK5 | c.*68G>T (n.*68G>T) | gnomAD v4 |
| 20 | g.54650548A>G | CA2653399186 | DOK5 | c.*69A>G (n.*69A>G) | gnomAD v4 |
| 20 | g.54650550T>C | CA2653399187 | DOK5 | c.*71T>C (n.*71T>C) | gnomAD v4 |
| 20 | g.54650550T>G | CA316539587 | DOK5 | c.*71T>G (n.*71T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650550T= | CA2370487881 | DOK5 | c.*71T= (n.*71T=) | |
| 20 | g.54650551G>T | CA2653399188 | DOK5 | c.*72G>T (n.*72G>T) | gnomAD v4 |
| 20 | g.54650552A>C | CA2577430271 | DOK5 | c.*73A>C (n.*73A>C) | |
| 20 | g.54650553C>A | CA2653399189 | DOK5 | c.*74C>A (n.*74C>A) | gnomAD v4 |
| 20 | g.54650553C>T | CA2536469804 | DOK5 | c.*74C>T (n.*74C>T) | gnomAD v4 |
| 20 | g.54650555G>A | CA2370487883 | DOK5 | c.*76G>A (n.*76G>A) | dbSNP gnomAD v4 |
| 20 | g.54650555G= | CA2370487882 | DOK5 | c.*76G= (n.*76G=) | |
| 20 | g.54650555G>T | CA2653399190 | DOK5 | c.*76G>T (n.*76G>T) | gnomAD v4 |
| 20 | g.54650556C>A | CA2577430272 | DOK5 | c.*77C>A (n.*77C>A) | gnomAD v4 |
| 20 | g.54650556C= | CA2370487884 | DOK5 | c.*77C= (n.*77C=) | |
| 20 | g.54650556C>G | CA2370487885 | DOK5 | c.*77C>G (n.*77C>G) | dbSNP |
| 20 | g.54650556C>T | CA2653399191 | DOK5 | c.*77C>T (n.*77C>T) | gnomAD v4 |
| 20 | g.54650557A= | CA2370487886 | DOK5 | c.*78A= (n.*78A=) | |
| 20 | g.54650557A>G | CA1018606247 | DOK5 | c.*78A>G (n.*78A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650559G>A | CA636385501 | DOK5 | c.*80G>A (n.*80G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54650559G= | CA2370487887 | DOK5 | c.*80G= (n.*80G=) | |
| 20 | g.54650559G>T | CA2653399192 | DOK5 | c.*80G>T (n.*80G>T) | gnomAD v4 |
| 20 | g.54650560G>A | CA745649978 | DOK5 | c.*81G>A (n.*81G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650560G= | CA2370487888 | DOK5 | c.*81G= (n.*81G=) | |
| 20 | g.54650560G>T | CA2653399193 | DOK5 | c.*81G>T (n.*81G>T) | gnomAD v4 |
| 20 | g.54650561G>T | CA2653399194 | DOK5 | c.*82G>T (n.*82G>T) | gnomAD v4 |
| 20 | g.54650561_54650562insC | CA2653399196 | DOK5 | c.*82_*83insC (n.*82_*83insC) | gnomAD v4 |
| 20 | g.54650564del | CA2653399195 | DOK5 | c.*85del (n.*85del) | gnomAD v4 |
| 20 | g.54650563A= | CA2370487889 | DOK5 | c.*84A= (n.*84A=) | |
| 20 | g.54650563A>T | CA1018606253 | DOK5 | c.*84A>T (n.*84A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650564A>G | CA2653399197 | DOK5 | c.*85A>G (n.*85A>G) | gnomAD v4 |
| 20 | g.54650565T>C | CA2577430273 | DOK5 | c.*86T>C (n.*86T>C) | gnomAD v4 |
| 20 | g.54650566G>A | CA2653399198 | DOK5 | c.*87G>A (n.*87G>A) | gnomAD v4 |
| 20 | g.54650567A>G | CA2577430274 | DOK5 | c.*88A>G (n.*88A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.54650568C>A | CA2577430275 | DOK5 | c.*89C>A (n.*89C>A) | gnomAD v4 |
| 20 | g.54650568C= | CA2370487890 | DOK5 | c.*89C= (n.*89C=) | |
| 20 | g.54650568C>T | CA316539588 | DOK5 | c.*89C>T (n.*89C>T) | dbSNP gnomAD v3 gnomAD v4 |