Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135798089T>ACA348590941LCTc.4916A>T (p.Asn1639Ile)
c.3009A>T (p.Gln1003His)
2g.135798089T>CCA1887741LCTc.4916A>G (p.Asn1639Ser)
c.3009A>G (p.Gln1003=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798089T>GCA348590942LCTc.4916A>C (p.Asn1639Thr)
c.3009A>C (p.Gln1003His)
2g.135798089T=CA1290826530LCTc.4916A= (p.Asn1639=)
c.3009A= (p.Gln1003=)
2g.135798090T>ACA348590943LCTc.4915A>T (p.Asn1639Tyr)
c.3008A>T (p.Gln1003Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135798090T>CCA348590945LCTc.4915A>G (p.Asn1639Asp)
c.3008A>G (p.Gln1003Arg)
 COSMIC
2g.135798090T>GCA348590944LCTc.4915A>C (p.Asn1639His)
c.3008A>C (p.Gln1003Pro)
2g.135798090T=CA1290826531LCTc.4915A= (p.Asn1639=)
c.3008A= (p.Gln1003=)
2g.135798091G>ACA429086201LCTc.4914C>T (p.Tyr1638=)
c.3007C>T (p.Gln1003Ter)
 gnomAD v4
2g.135798091G>CCA348590946LCTc.4914C>G (p.Tyr1638Ter)
c.3007C>G (p.Gln1003Glu)
2g.135798091G>TCA348590947LCTc.4914C>A (p.Tyr1638Ter)
c.3007C>A (p.Gln1003Lys)
2g.135798092T>ACA348590948LCTc.4913A>T (p.Tyr1638Phe)
c.3006A>T (p.Leu1002Phe)
2g.135798092T>CCA348590949LCTc.4913A>G (p.Tyr1638Cys)
c.3006A>G (p.Leu1002=)
 dbSNP gnomAD v4
2g.135798092T>GCA348590950LCTc.4913A>C (p.Tyr1638Ser)
c.3006A>C (p.Leu1002Phe)
2g.135798093A>CCA348590951LCTc.4912T>G (p.Tyr1638Asp)
c.3005T>G (p.Leu1002Ter)
2g.135798093A>GCA348590952LCTc.4912T>C (p.Tyr1638His)
c.3005T>C (p.Leu1002Ser)
2g.135798093A>TCA348590953LCTc.4912T>A (p.Tyr1638Asn)
c.3005T>A (p.Leu1002Ter)
2g.135798094delCA2661274466LCTc.4912del (p.Tyr1638ThrfsTer4)
c.3005del (p.Leu1002TyrfsTer?)
 gnomAD v4
2g.135798094A>CCA348590955LCTc.4911T>G (p.Asp1637Glu)
c.3004T>G (p.Leu1002Val)
2g.135798094A>GCA429086204LCTc.4911T>C (p.Asp1637=)
c.3004T>C (p.Leu1002=)
2g.135798094A>TCA348590954LCTc.4911T>A (p.Asp1637Glu)
c.3004T>A (p.Leu1002Ile)
2g.135798095T>ACA348590956LCTc.4910A>T (p.Asp1637Val)
c.3003A>T (p.Arg1001Ser)
2g.135798095T>CCA348590957LCTc.4910A>G (p.Asp1637Gly)
c.3003A>G (p.Arg1001=)
2g.135798095T>GCA348590958LCTc.4910A>C (p.Asp1637Ala)
c.3003A>C (p.Arg1001Ser)
2g.135798096C>ACA348590959LCTc.4909G>T (p.Asp1637Tyr)
c.3002G>T (p.Arg1001Ile)
2g.135798096C>GCA348590960LCTc.4909G>C (p.Asp1637His)
c.3002G>C (p.Arg1001Thr)
 gnomAD v4
2g.135798096C>TCA348590961LCTc.4909G>A (p.Asp1637Asn)
c.3002G>A (p.Arg1001Lys)
2g.135798097T>ACA429086206LCTc.4908A>T (p.Gly1636=)
c.3001A>T (p.Arg1001Ter)
2g.135798097T>CCA429086207LCTc.4908A>G (p.Gly1636=)
c.3001A>G (p.Arg1001Gly)
2g.135798097T>GCA429086208LCTc.4908A>C (p.Gly1636=)
c.3001A>C (p.Arg1001=)
2g.135798098C>ACA348590964LCTc.4907G>T (p.Gly1636Val)
c.3000G>T (p.Trp1000Cys)
2g.135798098C>GCA348590962LCTc.4907G>C (p.Gly1636Ala)
c.3000G>C (p.Trp1000Cys)
2g.135798098C>TCA348590963LCTc.4907G>A (p.Gly1636Glu)
c.3000G>A (p.Trp1000Ter)
2g.135798099C>ACA348590965LCTc.4906G>T (p.Gly1636Ter)
c.2999G>T (p.Trp1000Leu)
2g.135798099C>GCA348590966LCTc.4906G>C (p.Gly1636Arg)
c.2999G>C (p.Trp1000Ser)
2g.135798099C>TCA348590967LCTc.4906G>A (p.Gly1636Arg)
c.2999G>A (p.Trp1000Ter)
 gnomAD v4
2g.135798100A=CA1290826532LCTc.4905T= (p.Asn1635=)
c.2998T= (p.Trp1000=)
2g.135798100A>CCA348590968LCTc.4905T>G (p.Asn1635Lys)
c.2998T>G (p.Trp1000Gly)
 gnomAD v4
2g.135798100A>GCA429086210LCTc.4905T>C (p.Asn1635=)
c.2998T>C (p.Trp1000Arg)
 dbSNP
2g.135798100A>TCA56602751LCTc.4905T>A (p.Asn1635Lys)
c.2998T>A (p.Trp1000Arg)
 dbSNP
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)
2g.135798104T>ACA348590979LCTc.4901A>T (p.Lys1634Met)
c.2994A>T (p.Gln998His)

Number of alleles fetched