Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.30737278C>A | CA395632406 | SRCAP | c.7238C>A (p.Pro2413His) c.1518C>A c.6707C>A (p.Pro2236His) c.6461C>A (p.Pro2154His) | |
16 | g.30737278C= | CA2216733310 | SRCAP | c.7238C= (p.Pro2413=) c.1518C= c.6707C= (p.Pro2236=) c.6461C= (p.Pro2154=) | |
16 | g.30737278C>G | CA395632407 | SRCAP | c.7238C>G (p.Pro2413Arg) c.1518C>G c.6707C>G (p.Pro2236Arg) c.6461C>G (p.Pro2154Arg) | |
16 | g.30737278C>T | CA8012442 | SRCAP | c.7238C>T (p.Pro2413Leu) c.1518C>T c.6707C>T (p.Pro2236Leu) c.6461C>T (p.Pro2154Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30737279T>A | CA494910506 | SRCAP | c.7239T>A (p.Pro2413=) c.1519T>A c.6708T>A (p.Pro2236=) c.6462T>A (p.Pro2154=) | |
16 | g.30737279T>C | CA494910508 | SRCAP | c.7239T>C (p.Pro2413=) c.1519T>C c.6708T>C (p.Pro2236=) c.6462T>C (p.Pro2154=) | gnomAD v4 |
16 | g.30737279T>G | CA494910510 | SRCAP | c.7239T>G (p.Pro2413=) c.1519T>G c.6708T>G (p.Pro2236=) c.6462T>G (p.Pro2154=) | gnomAD v4 |
16 | g.30737280G>A | CA395632408 | SRCAP | c.7240G>A (p.Val2414Ile) c.1520G>A c.6709G>A (p.Val2237Ile) c.6463G>A (p.Val2155Ile) | |
16 | g.30737280G>C | CA395632409 | SRCAP | c.7240G>C (p.Val2414Leu) c.1520G>C c.6709G>C (p.Val2237Leu) c.6463G>C (p.Val2155Leu) | |
16 | g.30737280G>T | CA395632410 | SRCAP | c.7240G>T (p.Val2414Phe) c.1520G>T c.6709G>T (p.Val2237Phe) c.6463G>T (p.Val2155Phe) | |
16 | g.30737281T>A | CA395632411 | SRCAP | c.7241T>A (p.Val2414Asp) c.1521T>A c.6710T>A (p.Val2237Asp) c.6464T>A (p.Val2155Asp) | |
16 | g.30737281T>C | CA395632412 | SRCAP | c.7241T>C (p.Val2414Ala) c.1521T>C c.6710T>C (p.Val2237Ala) c.6464T>C (p.Val2155Ala) | |
16 | g.30737281T>G | CA395632413 | SRCAP | c.7241T>G (p.Val2414Gly) c.1521T>G c.6710T>G (p.Val2237Gly) c.6464T>G (p.Val2155Gly) | |
16 | g.30737282C>A | CA494910514 | SRCAP | c.7242C>A (p.Val2414=) c.1522C>A c.6711C>A (p.Val2237=) c.6465C>A (p.Val2155=) | |
16 | g.30737282C= | CA2216733316 | SRCAP | c.7242C= (p.Val2414=) c.1522C= c.6711C= (p.Val2237=) c.6465C= (p.Val2155=) | |
16 | g.30737282C>G | CA494910515 | SRCAP | c.7242C>G (p.Val2414=) c.1522C>G c.6711C>G (p.Val2237=) c.6465C>G (p.Val2155=) | |
16 | g.30737282C>T | CA494910516 | SRCAP | c.7242C>T (p.Val2414=) c.1522C>T c.6711C>T (p.Val2237=) c.6465C>T (p.Val2155=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.30737283A= | CA2216733320 | SRCAP | c.7243A= (p.Ile2415=) c.1523A= c.6712A= (p.Ile2238=) c.6466A= (p.Ile2156=) | |
16 | g.30737283A>C | CA395632415 | SRCAP | c.7243A>C (p.Ile2415Leu) c.1523A>C c.6712A>C (p.Ile2238Leu) c.6466A>C (p.Ile2156Leu) | |
16 | g.30737283A>G | CA8012443 | SRCAP | c.7243A>G (p.Ile2415Val) c.1523A>G c.6712A>G (p.Ile2238Val) c.6466A>G (p.Ile2156Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30737283A>T | CA395632414 | SRCAP | c.7243A>T (p.Ile2415Leu) c.1523A>T c.6712A>T (p.Ile2238Leu) c.6466A>T (p.Ile2156Leu) | |
16 | g.30737283dup | CA2573152239 | SRCAP | c.7243dup (p.Ile2415AsnfsTer28) c.1523dup c.6712dup (p.Ile2238AsnfsTer28) c.6466dup (p.Ile2156AsnfsTer28) | ClinVar dbSNP |
16 | g.30737285_30737286del | CA2695223255 | SRCAP | c.7245_7246del (p.Ser2416ArgfsTer26) c.1525_1526del c.6714_6715del (p.Ser2239ArgfsTer26) c.6468_6469del (p.Ser2157ArgfsTer26) | |
16 | g.30737284T>A | CA395632416 | SRCAP | c.7244T>A (p.Ile2415Lys) c.1524T>A c.6713T>A (p.Ile2238Lys) c.6467T>A (p.Ile2156Lys) | |
16 | g.30737284T>C | CA395632417 | SRCAP | c.7244T>C (p.Ile2415Thr) c.1524T>C c.6713T>C (p.Ile2238Thr) c.6467T>C (p.Ile2156Thr) | |
16 | g.30737284T>G | CA395632418 | SRCAP | c.7244T>G (p.Ile2415Arg) c.1524T>G c.6713T>G (p.Ile2238Arg) c.6467T>G (p.Ile2156Arg) | |
16 | g.30737285A= | CA2216733326 | SRCAP | c.7245A= (p.Ile2415=) c.1525A= c.6714A= (p.Ile2238=) c.6468A= (p.Ile2156=) | |
16 | g.30737285A>C | CA494910519 | SRCAP | c.7245A>C (p.Ile2415=) c.1525A>C c.6714A>C (p.Ile2238=) c.6468A>C (p.Ile2156=) | |
16 | g.30737285A>G | CA280523593 | SRCAP | c.7245A>G (p.Ile2415Met) c.1525A>G c.6714A>G (p.Ile2238Met) c.6468A>G (p.Ile2156Met) | dbSNP |
16 | g.30737285A>T | CA494910520 | SRCAP | c.7245A>T (p.Ile2415=) c.1525A>T c.6714A>T (p.Ile2238=) c.6468A>T (p.Ile2156=) | |
16 | g.30737286T>A | CA395632420 | SRCAP | c.7246T>A (p.Ser2416Thr) c.1526T>A c.6715T>A (p.Ser2239Thr) c.6469T>A (p.Ser2157Thr) | |
16 | g.30737286T>C | CA8012444 | SRCAP | c.7246T>C (p.Ser2416Pro) c.1526T>C c.6715T>C (p.Ser2239Pro) c.6469T>C (p.Ser2157Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30737286T>G | CA395632419 | SRCAP | c.7246T>G (p.Ser2416Ala) c.1526T>G c.6715T>G (p.Ser2239Ala) c.6469T>G (p.Ser2157Ala) | |
16 | g.30737286T= | CA2216733332 | SRCAP | c.7246T= (p.Ser2416=) c.1526T= c.6715T= (p.Ser2239=) c.6469T= (p.Ser2157=) | |
16 | g.30737287C>A | CA395632421 | SRCAP | c.7247C>A (p.Ser2416Tyr) c.1527C>A c.6716C>A (p.Ser2239Tyr) c.6470C>A (p.Ser2157Tyr) | |
16 | g.30737287C= | CA2216733339 | SRCAP | c.7247C= (p.Ser2416=) c.1527C= c.6716C= (p.Ser2239=) c.6470C= (p.Ser2157=) | |
16 | g.30737287C>G | CA395632422 | SRCAP | c.7247C>G (p.Ser2416Cys) c.1527C>G c.6716C>G (p.Ser2239Cys) c.6470C>G (p.Ser2157Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30737287C>T | CA395632423 | SRCAP | c.7247C>T (p.Ser2416Phe) c.1527C>T c.6716C>T (p.Ser2239Phe) c.6470C>T (p.Ser2157Phe) | |
16 | g.30737288C>A | CA494910524 | SRCAP | c.7248C>A (p.Ser2416=) c.1528C>A c.6717C>A (p.Ser2239=) c.6471C>A (p.Ser2157=) | |
16 | g.30737288C= | CA2216733343 | SRCAP | c.7248C= (p.Ser2416=) c.1528C= c.6717C= (p.Ser2239=) c.6471C= (p.Ser2157=) | |
16 | g.30737288C>G | CA494910525 | SRCAP | c.7248C>G (p.Ser2416=) c.1528C>G c.6717C>G (p.Ser2239=) c.6471C>G (p.Ser2157=) | |
16 | g.30737288C>T | CA244713 | SRCAP | c.7248C>T (p.Ser2416=) c.1528C>T c.6717C>T (p.Ser2239=) c.6471C>T (p.Ser2157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30737289G>A | CA8012445 | SRCAP | c.7249G>A (p.Ala2417Thr) c.1529G>A c.6718G>A (p.Ala2240Thr) c.6472G>A (p.Ala2158Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.30737289G>C | CA395632424 | SRCAP | c.7249G>C (p.Ala2417Pro) c.1529G>C c.6718G>C (p.Ala2240Pro) c.6472G>C (p.Ala2158Pro) | |
16 | g.30737289G= | CA2216733352 | SRCAP | c.7249G= (p.Ala2417=) c.1529G= c.6718G= (p.Ala2240=) c.6472G= (p.Ala2158=) | |
16 | g.30737289G>T | CA395632425 | SRCAP | c.7249G>T (p.Ala2417Ser) c.1529G>T c.6718G>T (p.Ala2240Ser) c.6472G>T (p.Ala2158Ser) | |
16 | g.30737290C>A | CA395632426 | SRCAP | c.7250C>A (p.Ala2417Asp) c.1530C>A c.6719C>A (p.Ala2240Asp) c.6473C>A (p.Ala2158Asp) | |
16 | g.30737290C= | CA2216733361 | SRCAP | c.7250C= (p.Ala2417=) c.1530C= c.6719C= (p.Ala2240=) c.6473C= (p.Ala2158=) | |
16 | g.30737290C>G | CA395632427 | SRCAP | c.7250C>G (p.Ala2417Gly) c.1530C>G c.6719C>G (p.Ala2240Gly) c.6473C>G (p.Ala2158Gly) | |
16 | g.30737290C>T | CA8012446 | SRCAP | c.7250C>T (p.Ala2417Val) c.1530C>T c.6719C>T (p.Ala2240Val) c.6473C>T (p.Ala2158Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |