Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135798101T>ACA348590969LCTc.4904A>T (p.Asn1635Ile)
c.2997A>T (p.Glu999Asp)
2g.135798101T>CCA348590970LCTc.4904A>G (p.Asn1635Ser)
c.2997A>G (p.Glu999=)
2g.135798101T>GCA348590971LCTc.4904A>C (p.Asn1635Thr)
c.2997A>C (p.Glu999Asp)
2g.135798102T>ACA348590972LCTc.4903A>T (p.Asn1635Tyr)
c.2996A>T (p.Glu999Val)
2g.135798102T>CCA348590973LCTc.4903A>G (p.Asn1635Asp)
c.2996A>G (p.Glu999Gly)
2g.135798102T>GCA348590974LCTc.4903A>C (p.Asn1635His)
c.2996A>C (p.Glu999Ala)
2g.135798103C>ACA348590975LCTc.4902G>T (p.Lys1634Asn)
c.2995G>T (p.Glu999Ter)
2g.135798103C>GCA348590976LCTc.4902G>C (p.Lys1634Asn)
c.2995G>C (p.Glu999Gln)
2g.135798103C>TCA429086214LCTc.4902G>A (p.Lys1634=)
c.2995G>A (p.Glu999Lys)
 ClinVar
2g.135798104T>ACA348590979LCTc.4901A>T (p.Lys1634Met)
c.2994A>T (p.Gln998His)
2g.135798104T>CCA348590977LCTc.4901A>G (p.Lys1634Arg)
c.2994A>G (p.Gln998=)
2g.135798104T>GCA348590978LCTc.4901A>C (p.Lys1634Thr)
c.2994A>C (p.Gln998His)
2g.135798105T>ACA348590980LCTc.4900A>T (p.Lys1634Ter)
c.2993A>T (p.Gln998Leu)
2g.135798105T>CCA348590981LCTc.4900A>G (p.Lys1634Glu)
c.2993A>G (p.Gln998Arg)
2g.135798105T>GCA348590982LCTc.4900A>C (p.Lys1634Gln)
c.2993A>C (p.Gln998Pro)
2g.135798106G>ACA429086215LCTc.4899C>T (p.Phe1633=)
c.2992C>T (p.Gln998Ter)
 gnomAD v4 COSMIC
2g.135798106G>CCA348590983LCTc.4899C>G (p.Phe1633Leu)
c.2992C>G (p.Gln998Glu)
 gnomAD v4
2g.135798106G>TCA348590984LCTc.4899C>A (p.Phe1633Leu)
c.2992C>A (p.Gln998Lys)
2g.135798107A>CCA348590985LCTc.4898T>G (p.Phe1633Cys)
c.2991T>G (p.Phe997Leu)
2g.135798107A>GCA348590986LCTc.4898T>C (p.Phe1633Ser)
c.2991T>C (p.Phe997=)
2g.135798107A>TCA348590987LCTc.4898T>A (p.Phe1633Tyr)
c.2991T>A (p.Phe997Leu)
2g.135798108A>CCA348590988LCTc.4897T>G (p.Phe1633Val)
c.2990T>G (p.Phe997Cys)
2g.135798108A>GCA348590990LCTc.4897T>C (p.Phe1633Leu)
c.2990T>C (p.Phe997Ser)
2g.135798108A>TCA348590989LCTc.4897T>A (p.Phe1633Ile)
c.2990T>A (p.Phe997Tyr)
2g.135798109A>CCA348590991LCTc.4896T>G (p.Ile1632Met)
c.2989T>G (p.Phe997Val)
2g.135798109A>GCA429086220LCTc.4896T>C (p.Ile1632=)
c.2989T>C (p.Phe997Leu)
2g.135798109A>TCA429086219LCTc.4896T>A (p.Ile1632=)
c.2989T>A (p.Phe997Ile)
2g.135798110A>CCA348590992LCTc.4895T>G (p.Ile1632Ser)
c.2988T>G (p.Tyr996Ter)
2g.135798110A>GCA348590993LCTc.4895T>C (p.Ile1632Thr)
c.2988T>C (p.Tyr996=)
2g.135798110A>TCA348590994LCTc.4895T>A (p.Ile1632Asn)
c.2988T>A (p.Tyr996Ter)
2g.135798111T>ACA348590995LCTc.4894A>T (p.Ile1632Phe)
c.2987A>T (p.Tyr996Phe)
2g.135798111T>CCA1887742LCTc.4894A>G (p.Ile1632Val)
c.2987A>G (p.Tyr996Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135798111T>GCA348590996LCTc.4894A>C (p.Ile1632Leu)
c.2987A>C (p.Tyr996Ser)
2g.135798111T=CA1290826533LCTc.4894A= (p.Ile1632=)
c.2987A= (p.Tyr996=)
2g.135798112A>CCA429086223LCTc.4893T>G (p.Pro1631=)
c.2986T>G (p.Tyr996Asp)
2g.135798112A>GCA429086224LCTc.4893T>C (p.Pro1631=)
c.2986T>C (p.Tyr996His)
2g.135798112A>TCA429086225LCTc.4893T>A (p.Pro1631=)
c.2986T>A (p.Tyr996Asn)
2g.135798113G>ACA348590997LCTc.4892C>T (p.Pro1631Leu)
c.2985C>T (p.Ser995=)
2g.135798113G>CCA348590998LCTc.4892C>G (p.Pro1631Arg)
c.2985C>G (p.Ser995=)
2g.135798113G>TCA348590999LCTc.4892C>A (p.Pro1631His)
c.2985C>A (p.Ser995=)
 gnomAD v4
2g.135798114G>ACA348591001LCTc.4891C>T (p.Pro1631Ser)
c.2984C>T (p.Ser995Phe)
2g.135798114G>CCA348591002LCTc.4891C>G (p.Pro1631Ala)
c.2984C>G (p.Ser995Cys)
2g.135798114G>TCA348591003LCTc.4891C>A (p.Pro1631Thr)
c.2984C>A (p.Ser995Tyr)
2g.135798115A>CCA348591004LCTc.4890T>G (p.His1630Gln)
c.2983T>G (p.Ser995Ala)
2g.135798115A>GCA429086226LCTc.4890T>C (p.His1630=)
c.2983T>C (p.Ser995Pro)
2g.135798115A>TCA348591005LCTc.4890T>A (p.His1630Gln)
c.2983T>A (p.Ser995Thr)
2g.135798116T>ACA348591006LCTc.4889A>T (p.His1630Leu)
c.2982A>T (p.Thr994=)
2g.135798116T>CCA348591007LCTc.4889A>G (p.His1630Arg)
c.2982A>G (p.Thr994=)
2g.135798116T>GCA348591008LCTc.4889A>C (p.His1630Pro)
c.2982A>C (p.Thr994=)
2g.135798117delCA2661274469LCTc.4888del (p.His1630IlefsTer12)
c.2981del (p.Thr994AsnfsTer?)
 gnomAD v4

Number of alleles fetched