Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
16 | g.30737291C>A | CA494910531 | SRCAP | c.7251C>A (p.Ala2417=) c.1531C>A c.6720C>A (p.Ala2240=) c.6474C>A (p.Ala2158=) | |
16 | g.30737291C>G | CA494910529 | SRCAP | c.7251C>G (p.Ala2417=) c.1531C>G c.6720C>G (p.Ala2240=) c.6474C>G (p.Ala2158=) | gnomAD v4 |
16 | g.30737291C>T | CA494910530 | SRCAP | c.7251C>T (p.Ala2417=) c.1531C>T c.6720C>T (p.Ala2240=) c.6474C>T (p.Ala2158=) | gnomAD v4 |
16 | g.30737292C>A | CA395632428 | SRCAP | c.7252C>A (p.His2418Asn) c.1532C>A c.6721C>A (p.His2241Asn) c.6475C>A (p.His2159Asn) | |
16 | g.30737292C>G | CA395632430 | SRCAP | c.7252C>G (p.His2418Asp) c.1532C>G c.6721C>G (p.His2241Asp) c.6475C>G (p.His2159Asp) | |
16 | g.30737292C>T | CA395632429 | SRCAP | c.7252C>T (p.His2418Tyr) c.1532C>T c.6721C>T (p.His2241Tyr) c.6475C>T (p.His2159Tyr) | |
16 | g.30737293A>C | CA395632431 | SRCAP | c.7253A>C (p.His2418Pro) c.1533A>C c.6722A>C (p.His2241Pro) c.6476A>C (p.His2159Pro) | |
16 | g.30737293A>G | CA395632433 | SRCAP | c.7253A>G (p.His2418Arg) c.1533A>G c.6722A>G (p.His2241Arg) c.6476A>G (p.His2159Arg) | |
16 | g.30737293A>T | CA395632432 | SRCAP | c.7253A>T (p.His2418Leu) c.1533A>T c.6722A>T (p.His2241Leu) c.6476A>T (p.His2159Leu) | |
16 | g.30737294T>A | CA395632434 | SRCAP | c.7254T>A (p.His2418Gln) c.1534T>A c.6723T>A (p.His2241Gln) c.6477T>A (p.His2159Gln) | |
16 | g.30737294T>C | CA494910535 | SRCAP | c.7254T>C (p.His2418=) c.1534T>C c.6723T>C (p.His2241=) c.6477T>C (p.His2159=) | |
16 | g.30737294T>G | CA395632435 | SRCAP | c.7254T>G (p.His2418Gln) c.1534T>G c.6723T>G (p.His2241Gln) c.6477T>G (p.His2159Gln) | |
16 | g.30737295C>A | CA395632436 | SRCAP | c.7255C>A (p.Gln2419Lys) c.1535C>A c.6724C>A (p.Gln2242Lys) c.6478C>A (p.Gln2160Lys) | |
16 | g.30737295C= | CA2216733365 | SRCAP | c.7255C= (p.Gln2419=) c.1535C= c.6724C= (p.Gln2242=) c.6478C= (p.Gln2160=) | |
16 | g.30737295C>G | CA395632438 | SRCAP | c.7255C>G (p.Gln2419Glu) c.1535C>G c.6724C>G (p.Gln2242Glu) c.6478C>G (p.Gln2160Glu) | ClinVar |
16 | g.30737295C>T | CA395632437 | SRCAP | c.7255C>T (p.Gln2419Ter) c.1535C>T c.6724C>T (p.Gln2242Ter) c.6478C>T (p.Gln2160Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.30737296A>C | CA395632439 | SRCAP | c.7256A>C (p.Gln2419Pro) c.1536A>C c.6725A>C (p.Gln2242Pro) c.6479A>C (p.Gln2160Pro) |