Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.30737270C>ACA395632389SRCAPc.7230C>A (p.Asn2410Lys)
c.1510C>A
c.6699C>A (p.Asn2233Lys)
c.6453C>A (p.Asn2151Lys)
16g.30737270C>GCA395632390SRCAPc.7230C>G (p.Asn2410Lys)
c.1510C>G
c.6699C>G (p.Asn2233Lys)
c.6453C>G (p.Asn2151Lys)
16g.30737270C>TCA494910491SRCAPc.7230C>T (p.Asn2410=)
c.1510C>T
c.6699C>T (p.Asn2233=)
c.6453C>T (p.Asn2151=)
16g.30737271C>ACA395632391SRCAPc.7231C>A (p.His2411Asn)
c.1511C>A
c.6700C>A (p.His2234Asn)
c.6454C>A (p.His2152Asn)
16g.30737271C=CA2216733293SRCAPc.7231C= (p.His2411=)
c.1511C=
c.6700C= (p.His2234=)
c.6454C= (p.His2152=)
16g.30737271C>GCA8012440SRCAPc.7231C>G (p.His2411Asp)
c.1511C>G
c.6700C>G (p.His2234Asp)
c.6454C>G (p.His2152Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30737271C>TCA395632392SRCAPc.7231C>T (p.His2411Tyr)
c.1511C>T
c.6700C>T (p.His2234Tyr)
c.6454C>T (p.His2152Tyr)
16g.30737272A>CCA395632393SRCAPc.7232A>C (p.His2411Pro)
c.1512A>C
c.6701A>C (p.His2234Pro)
c.6455A>C (p.His2152Pro)
16g.30737272A>GCA395632394SRCAPc.7232A>G (p.His2411Arg)
c.1512A>G
c.6701A>G (p.His2234Arg)
c.6455A>G (p.His2152Arg)
16g.30737272A>TCA395632395SRCAPc.7232A>T (p.His2411Leu)
c.1512A>T
c.6701A>T (p.His2234Leu)
c.6455A>T (p.His2152Leu)
16g.30737273C>ACA395632396SRCAPc.7233C>A (p.His2411Gln)
c.1513C>A
c.6702C>A (p.His2234Gln)
c.6456C>A (p.His2152Gln)
16g.30737273C>GCA395632397SRCAPc.7233C>G (p.His2411Gln)
c.1513C>G
c.6702C>G (p.His2234Gln)
c.6456C>G (p.His2152Gln)
16g.30737273C>TCA494910495SRCAPc.7233C>T (p.His2411=)
c.1513C>T
c.6702C>T (p.His2234=)
c.6456C>T (p.His2152=)
16g.30737274A>CCA395632398SRCAPc.7234A>C (p.Thr2412Pro)
c.1514A>C
c.6703A>C (p.Thr2235Pro)
c.6457A>C (p.Thr2153Pro)
16g.30737274A>GCA395632399SRCAPc.7234A>G (p.Thr2412Ala)
c.1514A>G
c.6703A>G (p.Thr2235Ala)
c.6457A>G (p.Thr2153Ala)
16g.30737274A>TCA395632400SRCAPc.7234A>T (p.Thr2412Ser)
c.1514A>T
c.6703A>T (p.Thr2235Ser)
c.6457A>T (p.Thr2153Ser)
16g.30737275C>ACA395632402SRCAPc.7235C>A (p.Thr2412Asn)
c.1515C>A
c.6704C>A (p.Thr2235Asn)
c.6458C>A (p.Thr2153Asn)
16g.30737275C=CA2216733301SRCAPc.7235C= (p.Thr2412=)
c.1515C=
c.6704C= (p.Thr2235=)
c.6458C= (p.Thr2153=)
16g.30737275C>GCA395632403SRCAPc.7235C>G (p.Thr2412Ser)
c.1515C>G
c.6704C>G (p.Thr2235Ser)
c.6458C>G (p.Thr2153Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30737275C>TCA395632401SRCAPc.7235C>T (p.Thr2412Ile)
c.1515C>T
c.6704C>T (p.Thr2235Ile)
c.6458C>T (p.Thr2153Ile)
 dbSNP gnomAD v2 gnomAD v4
16g.30737276_30737277delCA2580091480SRCAPc.7236_7237del (p.Pro2413CysfsTer29)
c.1516_1517del
c.6705_6706del (p.Pro2236CysfsTer29)
c.6459_6460del (p.Pro2154CysfsTer29)
 ClinVar
16g.30737276T>ACA494910502SRCAPc.7236T>A (p.Thr2412=)
c.1516T>A
c.6705T>A (p.Thr2235=)
c.6459T>A (p.Thr2153=)
 gnomAD v4
16g.30737276T>CCA494910500SRCAPc.7236T>C (p.Thr2412=)
c.1516T>C
c.6705T>C (p.Thr2235=)
c.6459T>C (p.Thr2153=)
16g.30737276T>GCA494910499SRCAPc.7236T>G (p.Thr2412=)
c.1516T>G
c.6705T>G (p.Thr2235=)
c.6459T>G (p.Thr2153=)
16g.30737277C>ACA395632404SRCAPc.7237C>A (p.Pro2413Thr)
c.1517C>A
c.6706C>A (p.Pro2236Thr)
c.6460C>A (p.Pro2154Thr)
16g.30737277C=CA2216733304SRCAPc.7237C= (p.Pro2413=)
c.1517C=
c.6706C= (p.Pro2236=)
c.6460C= (p.Pro2154=)
16g.30737277C>GCA8012441SRCAPc.7237C>G (p.Pro2413Ala)
c.1517C>G
c.6706C>G (p.Pro2236Ala)
c.6460C>G (p.Pro2154Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30737277C>TCA395632405SRCAPc.7237C>T (p.Pro2413Ser)
c.1517C>T
c.6706C>T (p.Pro2236Ser)
c.6460C>T (p.Pro2154Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.30737278C>ACA395632406SRCAPc.7238C>A (p.Pro2413His)
c.1518C>A
c.6707C>A (p.Pro2236His)
c.6461C>A (p.Pro2154His)
16g.30737278C=CA2216733310SRCAPc.7238C= (p.Pro2413=)
c.1518C=
c.6707C= (p.Pro2236=)
c.6461C= (p.Pro2154=)
16g.30737278C>GCA395632407SRCAPc.7238C>G (p.Pro2413Arg)
c.1518C>G
c.6707C>G (p.Pro2236Arg)
c.6461C>G (p.Pro2154Arg)
16g.30737278C>TCA8012442SRCAPc.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
16g.30737279T>ACA494910506SRCAPc.7239T>A (p.Pro2413=)
c.1519T>A
c.6708T>A (p.Pro2236=)
c.6462T>A (p.Pro2154=)
16g.30737279T>CCA494910508SRCAPc.7239T>C (p.Pro2413=)
c.1519T>C
c.6708T>C (p.Pro2236=)
c.6462T>C (p.Pro2154=)
 gnomAD v4
16g.30737279T>GCA494910510SRCAPc.7239T>G (p.Pro2413=)
c.1519T>G
c.6708T>G (p.Pro2236=)
c.6462T>G (p.Pro2154=)
 gnomAD v4
16g.30737280G>ACA395632408SRCAPc.7240G>A (p.Val2414Ile)
c.1520G>A
c.6709G>A (p.Val2237Ile)
c.6463G>A (p.Val2155Ile)
16g.30737280G>CCA395632409SRCAPc.7240G>C (p.Val2414Leu)
c.1520G>C
c.6709G>C (p.Val2237Leu)
c.6463G>C (p.Val2155Leu)
16g.30737280G>TCA395632410SRCAPc.7240G>T (p.Val2414Phe)
c.1520G>T
c.6709G>T (p.Val2237Phe)
c.6463G>T (p.Val2155Phe)
16g.30737281T>ACA395632411SRCAPc.7241T>A (p.Val2414Asp)
c.1521T>A
c.6710T>A (p.Val2237Asp)
c.6464T>A (p.Val2155Asp)
16g.30737281T>CCA395632412SRCAPc.7241T>C (p.Val2414Ala)
c.1521T>C
c.6710T>C (p.Val2237Ala)
c.6464T>C (p.Val2155Ala)
16g.30737281T>GCA395632413SRCAPc.7241T>G (p.Val2414Gly)
c.1521T>G
c.6710T>G (p.Val2237Gly)
c.6464T>G (p.Val2155Gly)
16g.30737282C>ACA494910514SRCAPc.7242C>A (p.Val2414=)
c.1522C>A
c.6711C>A (p.Val2237=)
c.6465C>A (p.Val2155=)
16g.30737282C=CA2216733316SRCAPc.7242C= (p.Val2414=)
c.1522C=
c.6711C= (p.Val2237=)
c.6465C= (p.Val2155=)
16g.30737282C>GCA494910515SRCAPc.7242C>G (p.Val2414=)
c.1522C>G
c.6711C>G (p.Val2237=)
c.6465C>G (p.Val2155=)
16g.30737282C>TCA494910516SRCAPc.7242C>T (p.Val2414=)
c.1522C>T
c.6711C>T (p.Val2237=)
c.6465C>T (p.Val2155=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.30737283A=CA2216733320SRCAPc.7243A= (p.Ile2415=)
c.1523A=
c.6712A= (p.Ile2238=)
c.6466A= (p.Ile2156=)
16g.30737283A>CCA395632415SRCAPc.7243A>C (p.Ile2415Leu)
c.1523A>C
c.6712A>C (p.Ile2238Leu)
c.6466A>C (p.Ile2156Leu)
16g.30737283A>GCA8012443SRCAPc.7243A>G (p.Ile2415Val)
c.1523A>G
c.6712A>G (p.Ile2238Val)
c.6466A>G (p.Ile2156Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.30737283A>TCA395632414SRCAPc.7243A>T (p.Ile2415Leu)
c.1523A>T
c.6712A>T (p.Ile2238Leu)
c.6466A>T (p.Ile2156Leu)
16g.30737283dupCA2573152239SRCAPc.7243dup (p.Ile2415AsnfsTer28)
c.1523dup
c.6712dup (p.Ile2238AsnfsTer28)
c.6466dup (p.Ile2156AsnfsTer28)
 ClinVar dbSNP

Number of alleles fetched