Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.30737270C>A | CA395632389 | SRCAP | c.7230C>A (p.Asn2410Lys) c.1510C>A c.6699C>A (p.Asn2233Lys) c.6453C>A (p.Asn2151Lys) | |
16 | g.30737270C>G | CA395632390 | SRCAP | c.7230C>G (p.Asn2410Lys) c.1510C>G c.6699C>G (p.Asn2233Lys) c.6453C>G (p.Asn2151Lys) | |
16 | g.30737270C>T | CA494910491 | SRCAP | c.7230C>T (p.Asn2410=) c.1510C>T c.6699C>T (p.Asn2233=) c.6453C>T (p.Asn2151=) | |
16 | g.30737271C>A | CA395632391 | SRCAP | c.7231C>A (p.His2411Asn) c.1511C>A c.6700C>A (p.His2234Asn) c.6454C>A (p.His2152Asn) | |
16 | g.30737271C= | CA2216733293 | SRCAP | c.7231C= (p.His2411=) c.1511C= c.6700C= (p.His2234=) c.6454C= (p.His2152=) | |
16 | g.30737271C>G | CA8012440 | SRCAP | c.7231C>G (p.His2411Asp) c.1511C>G c.6700C>G (p.His2234Asp) c.6454C>G (p.His2152Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30737271C>T | CA395632392 | SRCAP | c.7231C>T (p.His2411Tyr) c.1511C>T c.6700C>T (p.His2234Tyr) c.6454C>T (p.His2152Tyr) | |
16 | g.30737272A>C | CA395632393 | SRCAP | c.7232A>C (p.His2411Pro) c.1512A>C c.6701A>C (p.His2234Pro) c.6455A>C (p.His2152Pro) | |
16 | g.30737272A>G | CA395632394 | SRCAP | c.7232A>G (p.His2411Arg) c.1512A>G c.6701A>G (p.His2234Arg) c.6455A>G (p.His2152Arg) | |
16 | g.30737272A>T | CA395632395 | SRCAP | c.7232A>T (p.His2411Leu) c.1512A>T c.6701A>T (p.His2234Leu) c.6455A>T (p.His2152Leu) | |
16 | g.30737273C>A | CA395632396 | SRCAP | c.7233C>A (p.His2411Gln) c.1513C>A c.6702C>A (p.His2234Gln) c.6456C>A (p.His2152Gln) | |
16 | g.30737273C>G | CA395632397 | SRCAP | c.7233C>G (p.His2411Gln) c.1513C>G c.6702C>G (p.His2234Gln) c.6456C>G (p.His2152Gln) | |
16 | g.30737273C>T | CA494910495 | SRCAP | c.7233C>T (p.His2411=) c.1513C>T c.6702C>T (p.His2234=) c.6456C>T (p.His2152=) | |
16 | g.30737274A>C | CA395632398 | SRCAP | c.7234A>C (p.Thr2412Pro) c.1514A>C c.6703A>C (p.Thr2235Pro) c.6457A>C (p.Thr2153Pro) | |
16 | g.30737274A>G | CA395632399 | SRCAP | c.7234A>G (p.Thr2412Ala) c.1514A>G c.6703A>G (p.Thr2235Ala) c.6457A>G (p.Thr2153Ala) | |
16 | g.30737274A>T | CA395632400 | SRCAP | c.7234A>T (p.Thr2412Ser) c.1514A>T c.6703A>T (p.Thr2235Ser) c.6457A>T (p.Thr2153Ser) | |
16 | g.30737275C>A | CA395632402 | SRCAP | c.7235C>A (p.Thr2412Asn) c.1515C>A c.6704C>A (p.Thr2235Asn) c.6458C>A (p.Thr2153Asn) | |
16 | g.30737275C= | CA2216733301 | SRCAP | c.7235C= (p.Thr2412=) c.1515C= c.6704C= (p.Thr2235=) c.6458C= (p.Thr2153=) | |
16 | g.30737275C>G | CA395632403 | SRCAP | c.7235C>G (p.Thr2412Ser) c.1515C>G c.6704C>G (p.Thr2235Ser) c.6458C>G (p.Thr2153Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30737275C>T | CA395632401 | SRCAP | c.7235C>T (p.Thr2412Ile) c.1515C>T c.6704C>T (p.Thr2235Ile) c.6458C>T (p.Thr2153Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30737276_30737277del | CA2580091480 | SRCAP | c.7236_7237del (p.Pro2413CysfsTer29) c.1516_1517del c.6705_6706del (p.Pro2236CysfsTer29) c.6459_6460del (p.Pro2154CysfsTer29) | ClinVar |
16 | g.30737276T>A | CA494910502 | SRCAP | c.7236T>A (p.Thr2412=) c.1516T>A c.6705T>A (p.Thr2235=) c.6459T>A (p.Thr2153=) | gnomAD v4 |
16 | g.30737276T>C | CA494910500 | SRCAP | c.7236T>C (p.Thr2412=) c.1516T>C c.6705T>C (p.Thr2235=) c.6459T>C (p.Thr2153=) | |
16 | g.30737276T>G | CA494910499 | SRCAP | c.7236T>G (p.Thr2412=) c.1516T>G c.6705T>G (p.Thr2235=) c.6459T>G (p.Thr2153=) | |
16 | g.30737277C>A | CA395632404 | SRCAP | c.7237C>A (p.Pro2413Thr) c.1517C>A c.6706C>A (p.Pro2236Thr) c.6460C>A (p.Pro2154Thr) | |
16 | g.30737277C= | CA2216733304 | SRCAP | c.7237C= (p.Pro2413=) c.1517C= c.6706C= (p.Pro2236=) c.6460C= (p.Pro2154=) | |
16 | g.30737277C>G | CA8012441 | SRCAP | c.7237C>G (p.Pro2413Ala) c.1517C>G c.6706C>G (p.Pro2236Ala) c.6460C>G (p.Pro2154Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30737277C>T | CA395632405 | SRCAP | c.7237C>T (p.Pro2413Ser) c.1517C>T c.6706C>T (p.Pro2236Ser) c.6460C>T (p.Pro2154Ser) | dbSNP gnomAD v2 gnomAD v4 |
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 |