Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.30737182G>ACA8012429SRCAPc.7142G>A (p.Arg2381His)
c.1422G>A
c.6611G>A (p.Arg2204His)
c.6365G>A (p.Arg2122His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.30737182G>CCA395632207SRCAPc.7142G>C (p.Arg2381Pro)
c.1422G>C
c.6611G>C (p.Arg2204Pro)
c.6365G>C (p.Arg2122Pro)
16g.30737182G=CA2216733093SRCAPc.7142G= (p.Arg2381=)
c.1422G=
c.6611G= (p.Arg2204=)
c.6365G= (p.Arg2122=)
16g.30737182G>TCA395632208SRCAPc.7142G>T (p.Arg2381Leu)
c.1422G>T
c.6611G>T (p.Arg2204Leu)
c.6365G>T (p.Arg2122Leu)
 dbSNP
16g.30737183C>ACA494910410SRCAPc.7143C>A (p.Arg2381=)
c.1423C>A
c.6612C>A (p.Arg2204=)
c.6366C>A (p.Arg2122=)
 gnomAD v4
16g.30737183C=CA2216733096SRCAPc.7143C= (p.Arg2381=)
c.1423C=
c.6612C= (p.Arg2204=)
c.6366C= (p.Arg2122=)
16g.30737183C>GCA494910411SRCAPc.7143C>G (p.Arg2381=)
c.1423C>G
c.6612C>G (p.Arg2204=)
c.6366C>G (p.Arg2122=)
16g.30737183C>TCA494910413SRCAPc.7143C>T (p.Arg2381=)
c.1423C>T
c.6612C>T (p.Arg2204=)
c.6366C>T (p.Arg2122=)
 dbSNP gnomAD v2 gnomAD v4
16g.30737184A=CA2216733102SRCAPc.7144A= (p.Ser2382=)
c.1424A=
c.6613A= (p.Ser2205=)
c.6367A= (p.Ser2123=)
16g.30737184A>CCA395632209SRCAPc.7144A>C (p.Ser2382Arg)
c.1424A>C
c.6613A>C (p.Ser2205Arg)
c.6367A>C (p.Ser2123Arg)
16g.30737184A>GCA395632210SRCAPc.7144A>G (p.Ser2382Gly)
c.1424A>G
c.6613A>G (p.Ser2205Gly)
c.6367A>G (p.Ser2123Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.30737184A>TCA395632211SRCAPc.7144A>T (p.Ser2382Cys)
c.1424A>T
c.6613A>T (p.Ser2205Cys)
c.6367A>T (p.Ser2123Cys)
 gnomAD v4
16g.30737185G>ACA395632212SRCAPc.7145G>A (p.Ser2382Asn)
c.1425G>A
c.6614G>A (p.Ser2205Asn)
c.6368G>A (p.Ser2123Asn)
16g.30737185G>CCA280523515SRCAPc.7145G>C (p.Ser2382Thr)
c.1425G>C
c.6614G>C (p.Ser2205Thr)
c.6368G>C (p.Ser2123Thr)
 dbSNP gnomAD v4
16g.30737185G=CA2216733116SRCAPc.7145G= (p.Ser2382=)
c.1425G=
c.6614G= (p.Ser2205=)
c.6368G= (p.Ser2123=)
16g.30737185G>TCA395632213SRCAPc.7145G>T (p.Ser2382Ile)
c.1425G>T
c.6614G>T (p.Ser2205Ile)
c.6368G>T (p.Ser2123Ile)
16g.30737186T>ACA395632214SRCAPc.7146T>A (p.Ser2382Arg)
c.1426T>A
c.6615T>A (p.Ser2205Arg)
c.6369T>A (p.Ser2123Arg)
16g.30737186T>CCA494910416SRCAPc.7146T>C (p.Ser2382=)
c.1426T>C
c.6615T>C (p.Ser2205=)
c.6369T>C (p.Ser2123=)
16g.30737186T>GCA395632215SRCAPc.7146T>G (p.Ser2382Arg)
c.1426T>G
c.6615T>G (p.Ser2205Arg)
c.6369T>G (p.Ser2123Arg)
16g.30737187A>CCA395632216SRCAPc.7147A>C (p.Lys2383Gln)
c.1427A>C
c.6616A>C (p.Lys2206Gln)
c.6370A>C (p.Lys2124Gln)
 gnomAD v4
16g.30737187A>GCA395632217SRCAPc.7147A>G (p.Lys2383Glu)
c.1427A>G
c.6616A>G (p.Lys2206Glu)
c.6370A>G (p.Lys2124Glu)
16g.30737187A>TCA395632218SRCAPc.7147A>T (p.Lys2383Ter)
c.1427A>T
c.6616A>T (p.Lys2206Ter)
c.6370A>T (p.Lys2124Ter)
16g.30737191dupCA2732098738SRCAPc.7151dup (p.Ala2385GlyfsTer5)
c.1431dup
c.6620dup (p.Ala2208GlyfsTer5)
c.6374dup (p.Ala2126GlyfsTer5)
 dbSNP
16g.30737188A>CCA395632219SRCAPc.7148A>C (p.Lys2383Thr)
c.1428A>C
c.6617A>C (p.Lys2206Thr)
c.6371A>C (p.Lys2124Thr)
16g.30737188A>GCA395632220SRCAPc.7148A>G (p.Lys2383Arg)
c.1428A>G
c.6617A>G (p.Lys2206Arg)
c.6371A>G (p.Lys2124Arg)
16g.30737188A>TCA395632221SRCAPc.7148A>T (p.Lys2383Ile)
c.1428A>T
c.6617A>T (p.Lys2206Ile)
c.6371A>T (p.Lys2124Ile)
16g.30737189A>CCA395632222SRCAPc.7149A>C (p.Lys2383Asn)
c.1429A>C
c.6618A>C (p.Lys2206Asn)
c.6372A>C (p.Lys2124Asn)
16g.30737189A>GCA494910420SRCAPc.7149A>G (p.Lys2383=)
c.1429A>G
c.6618A>G (p.Lys2206=)
c.6372A>G (p.Lys2124=)
 dbSNP gnomAD v3 gnomAD v4
16g.30737189A>TCA395632223SRCAPc.7149A>T (p.Lys2383Asn)
c.1429A>T
c.6618A>T (p.Lys2206Asn)
c.6372A>T (p.Lys2124Asn)
16g.30737190A>CCA395632224SRCAPc.7150A>C (p.Lys2384Gln)
c.1430A>C
c.6619A>C (p.Lys2207Gln)
c.6373A>C (p.Lys2125Gln)
16g.30737190A>GCA395632225SRCAPc.7150A>G (p.Lys2384Glu)
c.1430A>G
c.6619A>G (p.Lys2207Glu)
c.6373A>G (p.Lys2125Glu)
16g.30737190A>TCA395632226SRCAPc.7150A>T (p.Lys2384Ter)
c.1430A>T
c.6619A>T (p.Lys2207Ter)
c.6373A>T (p.Lys2125Ter)
16g.30737191A>CCA395632228SRCAPc.7151A>C (p.Lys2384Thr)
c.1431A>C
c.6620A>C (p.Lys2207Thr)
c.6374A>C (p.Lys2125Thr)
16g.30737191A>GCA395632229SRCAPc.7151A>G (p.Lys2384Arg)
c.1431A>G
c.6620A>G (p.Lys2207Arg)
c.6374A>G (p.Lys2125Arg)
16g.30737191A>TCA395632227SRCAPc.7151A>T (p.Lys2384Met)
c.1431A>T
c.6620A>T (p.Lys2207Met)
c.6374A>T (p.Lys2125Met)
16g.30737192G>ACA494910424SRCAPc.7152G>A (p.Lys2384=)
c.1432G>A
c.6621G>A (p.Lys2207=)
c.6375G>A (p.Lys2125=)
 gnomAD v4
16g.30737192G>CCA395632230SRCAPc.7152G>C (p.Lys2384Asn)
c.1432G>C
c.6621G>C (p.Lys2207Asn)
c.6375G>C (p.Lys2125Asn)
16g.30737192G>TCA395632231SRCAPc.7152G>T (p.Lys2384Asn)
c.1432G>T
c.6621G>T (p.Lys2207Asn)
c.6375G>T (p.Lys2125Asn)
16g.30737193G>ACA395632232SRCAPc.7153G>A (p.Ala2385Thr)
c.1433G>A
c.6622G>A (p.Ala2208Thr)
c.6376G>A (p.Ala2126Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.30737193G>CCA395632233SRCAPc.7153G>C (p.Ala2385Pro)
c.1433G>C
c.6622G>C (p.Ala2208Pro)
c.6376G>C (p.Ala2126Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.30737193G=CA2216733122SRCAPc.7153G= (p.Ala2385=)
c.1433G=
c.6622G= (p.Ala2208=)
c.6376G= (p.Ala2126=)
16g.30737193G>TCA395632234SRCAPc.7153G>T (p.Ala2385Ser)
c.1433G>T
c.6622G>T (p.Ala2208Ser)
c.6376G>T (p.Ala2126Ser)
16g.30737194C>ACA395632235SRCAPc.7154C>A (p.Ala2385Asp)
c.1434C>A
c.6623C>A (p.Ala2208Asp)
c.6377C>A (p.Ala2126Asp)
16g.30737194C>GCA395632236SRCAPc.7154C>G (p.Ala2385Gly)
c.1434C>G
c.6623C>G (p.Ala2208Gly)
c.6377C>G (p.Ala2126Gly)
 gnomAD v4
16g.30737194C>TCA395632237SRCAPc.7154C>T (p.Ala2385Val)
c.1434C>T
c.6623C>T (p.Ala2208Val)
c.6377C>T (p.Ala2126Val)
 COSMIC
16g.30737195C>ACA494910426SRCAPc.7155C>A (p.Ala2385=)
c.1435C>A
c.6624C>A (p.Ala2208=)
c.6378C>A (p.Ala2126=)
16g.30737195C>GCA494910427SRCAPc.7155C>G (p.Ala2385=)
c.1435C>G
c.6624C>G (p.Ala2208=)
c.6378C>G (p.Ala2126=)
16g.30737195C>TCA494910429SRCAPc.7155C>T (p.Ala2385=)
c.1435C>T
c.6624C>T (p.Ala2208=)
c.6378C>T (p.Ala2126=)
16g.30737196A>CCA395632238SRCAPc.7156A>C (p.Lys2386Gln)
c.1436A>C
c.6625A>C (p.Lys2209Gln)
c.6379A>C (p.Lys2127Gln)
16g.30737196A>GCA395632239SRCAPc.7156A>G (p.Lys2386Glu)
c.1436A>G
c.6625A>G (p.Lys2209Glu)
c.6379A>G (p.Lys2127Glu)

Number of alleles fetched