Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42901010_42901011delinsTCCA2260692889G6PC1c.134_135delinsTC (p.Val45=)
n.199_200delinsTC
17g.42901011C>ACA290783724G6PC1c.135C>A (p.Val45=)
n.200C>A
ClinVar dbSNP gnomAD v4
17g.42901011C=CA2260692890G6PC1c.135C= (p.Val45=)
n.200C=
17g.42901011C>GCA500229359G6PC1c.135C>G (p.Val45=)
n.200C>G
17g.42901011C>TCA500229360G6PC1c.135C>T (p.Val45=)
n.200C>T
dbSNP
17g.42901012delCA16041841G6PC1c.136del (p.Leu46SerfsTer19)
n.201del
ClinVar dbSNP gnomAD v4
17g.42901012C>ACA399650798G6PC1c.136C>A (p.Leu46Ile)
n.201C>A
17g.42901012C=CA2260692891G6PC1c.136C= (p.Leu46=)
n.201C=
17g.42901012C>GCA399650801G6PC1c.136C>G (p.Leu46Val)
n.201C>G
17g.42901012C>TCA8587496G6PC1c.136C>T (p.Leu46Phe)
n.201C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42901013T>ACA399650814G6PC1c.137T>A (p.Leu46His)
n.202T>A
17g.42901013T>CCA399650811G6PC1c.137T>C (p.Leu46Pro)
n.202T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42901013T>GCA399650812G6PC1c.137T>G (p.Leu46Arg)
n.202T>G
17g.42901013T=CA2260692892G6PC1c.137T= (p.Leu46=)
n.202T=
17g.42901014C>ACA500229363G6PC1c.138C>A (p.Leu46=)
n.203C>A
17g.42901014C=CA2260692893G6PC1c.138C= (p.Leu46=)
n.203C=
17g.42901014C>GCA500229361G6PC1c.138C>G (p.Leu46=)
n.203C>G
17g.42901014C>TCA500229362G6PC1c.138C>T (p.Leu46=)
n.203C>T
dbSNP gnomAD v3 gnomAD v4
17g.42901015T>ACA399650818G6PC1c.139T>A (p.Phe47Ile)
n.204T>A
17g.42901015T>CCA399650820G6PC1c.139T>C (p.Phe47Leu)
n.204T>C
17g.42901015T>GCA399650823G6PC1c.139T>G (p.Phe47Val)
n.204T>G
17g.42901016T>ACA399650825G6PC1c.140T>A (p.Phe47Tyr)
n.205T>A
17g.42901016T>CCA399650827G6PC1c.140T>C (p.Phe47Ser)
n.205T>C
gnomAD v4
17g.42901016T>GCA399650828G6PC1c.140T>G (p.Phe47Cys)
n.205T>G
gnomAD v4
17g.42901017C>ACA399650835G6PC1c.141C>A (p.Phe47Leu)
n.206C>A
17g.42901017C=CA2260692894G6PC1c.141C= (p.Phe47=)
n.206C=
17g.42901017C>GCA399650836G6PC1c.141C>G (p.Phe47Leu)
n.206C>G
ClinVar
17g.42901017C>TCA500229364G6PC1c.141C>T (p.Phe47=)
n.206C>T
ClinVar dbSNP gnomAD v4
17g.42901020delCA2638039655G6PC1c.144del (p.Ile49SerfsTer16)
n.209del
gnomAD v4
17g.42901018C>ACA399650839G6PC1c.142C>A (p.Pro48Thr)
n.207C>A
17g.42901018C=CA2260692895G6PC1c.142C= (p.Pro48=)
n.207C=
17g.42901018C>GCA399650840G6PC1c.142C>G (p.Pro48Ala)
n.207C>G
gnomAD v4
17g.42901018C>TCA399650842G6PC1c.142C>T (p.Pro48Ser)
n.207C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42901019C>ACA399650846G6PC1c.143C>A (p.Pro48His)
n.208C>A
17g.42901019C>GCA399650849G6PC1c.143C>G (p.Pro48Arg)
n.208C>G
17g.42901019C>TCA399650848G6PC1c.143C>T (p.Pro48Leu)
n.208C>T
17g.42901020C>ACA500229365G6PC1c.144C>A (p.Pro48=)
n.209C>A
COSMIC
17g.42901020C>GCA500229366G6PC1c.144C>G (p.Pro48=)
n.209C>G
17g.42901020C>TCA500229367G6PC1c.144C>T (p.Pro48=)
n.209C>T
ClinVar dbSNP
17g.42901021A=CA2260692896G6PC1c.145A= (p.Ile49=)
n.210A=
17g.42901021A>CCA399650851G6PC1c.145A>C (p.Ile49Leu)
n.210A>C
gnomAD v4
17g.42901021A>GCA399650853G6PC1c.145A>G (p.Ile49Val)
n.210A>G
dbSNP gnomAD v3 gnomAD v4
17g.42901021A>TCA399650854G6PC1c.145A>T (p.Ile49Phe)
n.210A>T
17g.42901022T>ACA290783739G6PC1c.146T>A (p.Ile49Asn)
n.211T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42901022T>CCA399650855G6PC1c.146T>C (p.Ile49Thr)
n.211T>C
17g.42901022T>GCA399650856G6PC1c.146T>G (p.Ile49Ser)
n.211T>G
17g.42901022T=CA2260692897G6PC1c.146T= (p.Ile49=)
n.211T=
17g.42901023C>ACA500229368G6PC1c.147C>A (p.Ile49=)
n.212C>A
gnomAD v4
17g.42901023C=CA2260692898G6PC1c.147C= (p.Ile49=)
n.212C=
17g.42901023C>GCA399650858G6PC1c.147C>G (p.Ile49Met)
n.212C>G

Number of alleles fetched