Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.155803613C>ACA370146473SHHc.676G>T (p.Ala226Ser)
c.301+2683G>T (n.301+2683G>T)
n.471+2683G>T
c.415G>T (p.Ala139Ser)
c.337G>T (p.Ala113Ser)
n.562+2683G>T
7g.155803613C=CA1754768931SHHc.676G= (p.Ala226=)
c.301+2683G= (n.301+2683G=)
n.471+2683G=
c.415G= (p.Ala139=)
c.337G= (p.Ala113=)
n.562+2683G=
7g.155803613C>GCA370146474SHHc.676G>C (p.Ala226Pro)
c.301+2683G>C (n.301+2683G>C)
n.471+2683G>C
c.415G>C (p.Ala139Pro)
c.337G>C (p.Ala113Pro)
n.562+2683G>C
7g.155803613C>TCA340834SHHc.676G>A (p.Ala226Thr)
c.301+2683G>A (n.301+2683G>A)
n.471+2683G>A
c.415G>A (p.Ala139Thr)
c.337G>A (p.Ala113Thr)
n.562+2683G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.155803614C>ACA458893117SHHc.675G>T (p.Leu225=)
c.301+2682G>T (n.301+2682G>T)
n.471+2682G>T
c.414G>T (p.Leu138=)
c.336G>T (p.Leu112=)
n.562+2682G>T
7g.155803614C>GCA458893118SHHc.675G>C (p.Leu225=)
c.301+2682G>C (n.301+2682G>C)
n.471+2682G>C
c.414G>C (p.Leu138=)
c.336G>C (p.Leu112=)
n.562+2682G>C
7g.155803614C>TCA458893119SHHc.675G>A (p.Leu225=)
c.301+2682G>A (n.301+2682G>A)
n.471+2682G>A
c.414G>A (p.Leu138=)
c.336G>A (p.Leu112=)
n.562+2682G>A
7g.155803615A>CCA370146476SHHc.674T>G (p.Leu225Arg)
c.301+2681T>G (n.301+2681T>G)
n.471+2681T>G
c.413T>G (p.Leu138Arg)
c.335T>G (p.Leu112Arg)
n.562+2681T>G
7g.155803615A>GCA370146478SHHc.674T>C (p.Leu225Pro)
c.301+2681T>C (n.301+2681T>C)
n.471+2681T>C
c.413T>C (p.Leu138Pro)
c.335T>C (p.Leu112Pro)
n.562+2681T>C
COSMIC
7g.155803615A>TCA370146479SHHc.674T>A (p.Leu225Gln)
c.301+2681T>A (n.301+2681T>A)
n.471+2681T>A
c.413T>A (p.Leu138Gln)
c.335T>A (p.Leu112Gln)
n.562+2681T>A
7g.155803616G>ACA458893123SHHc.673C>T (p.Leu225=)
c.301+2680C>T (n.301+2680C>T)
n.471+2680C>T
c.412C>T (p.Leu138=)
c.334C>T (p.Leu112=)
n.562+2680C>T
gnomAD v4
7g.155803616G>CCA370146481SHHc.673C>G (p.Leu225Val)
c.301+2680C>G (n.301+2680C>G)
n.471+2680C>G
c.412C>G (p.Leu138Val)
c.334C>G (p.Leu112Val)
n.562+2680C>G
7g.155803616G>TCA370146482SHHc.673C>A (p.Leu225Met)
c.301+2680C>A (n.301+2680C>A)
n.471+2680C>A
c.412C>A (p.Leu138Met)
c.334C>A (p.Leu112Met)
n.562+2680C>A
gnomAD v4
7g.155803617C>ACA458893124SHHc.672G>T (p.Val224=)
c.301+2679G>T (n.301+2679G>T)
n.471+2679G>T
c.411G>T (p.Val137=)
c.333G>T (p.Val111=)
n.562+2679G>T
gnomAD v4
7g.155803617C>GCA458893125SHHc.672G>C (p.Val224=)
c.301+2679G>C (n.301+2679G>C)
n.471+2679G>C
c.411G>C (p.Val137=)
c.333G>C (p.Val111=)
n.562+2679G>C
gnomAD v4
7g.155803617C>TCA458893126SHHc.672G>A (p.Val224=)
c.301+2679G>A (n.301+2679G>A)
n.471+2679G>A
c.411G>A (p.Val137=)
c.333G>A (p.Val111=)
n.562+2679G>A
gnomAD v4
7g.155803618A=CA1754768949SHHc.671T= (p.Val224=)
c.301+2678T= (n.301+2678T=)
n.471+2678T=
c.410T= (p.Val137=)
c.332T= (p.Val111=)
n.562+2678T=
7g.155803618A>CCA370146485SHHc.671T>G (p.Val224Gly)
c.301+2678T>G (n.301+2678T>G)
n.471+2678T>G
c.410T>G (p.Val137Gly)
c.332T>G (p.Val111Gly)
n.562+2678T>G
gnomAD v4
7g.155803618A>GCA370146486SHHc.671T>C (p.Val224Ala)
c.301+2678T>C (n.301+2678T>C)
n.471+2678T>C
c.410T>C (p.Val137Ala)
c.332T>C (p.Val111Ala)
n.562+2678T>C
7g.155803618A>TCA340833SHHc.671T>A (p.Val224Glu)
c.301+2678T>A (n.301+2678T>A)
n.471+2678T>A
c.410T>A (p.Val137Glu)
c.332T>A (p.Val111Glu)
n.562+2678T>A
ClinVar dbSNP
7g.155803619C>ACA370146494SHHc.670G>T (p.Val224Leu)
c.301+2677G>T (n.301+2677G>T)
n.471+2677G>T
c.409G>T (p.Val137Leu)
c.331G>T (p.Val111Leu)
n.562+2677G>T
7g.155803619C>GCA370146491SHHc.670G>C (p.Val224Leu)
c.301+2677G>C (n.301+2677G>C)
n.471+2677G>C
c.409G>C (p.Val137Leu)
c.331G>C (p.Val111Leu)
n.562+2677G>C
7g.155803619C>TCA370146490SHHc.670G>A (p.Val224Met)
c.301+2677G>A (n.301+2677G>A)
n.471+2677G>A
c.409G>A (p.Val137Met)
c.331G>A (p.Val111Met)
n.562+2677G>A
gnomAD v4
7g.155803620G>ACA4586959SHHc.669C>T (p.Arg223=)
c.301+2676C>T (n.301+2676C>T)
n.471+2676C>T
c.408C>T (p.Arg136=)
c.330C>T (p.Arg110=)
n.562+2676C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.155803620G>CCA458893129SHHc.669C>G (p.Arg223=)
c.301+2676C>G (n.301+2676C>G)
n.471+2676C>G
c.408C>G (p.Arg136=)
c.330C>G (p.Arg110=)
n.562+2676C>G
7g.155803620G=CA1754768958SHHc.669C= (p.Arg223=)
c.301+2676C= (n.301+2676C=)
n.471+2676C=
c.408C= (p.Arg136=)
c.330C= (p.Arg110=)
n.562+2676C=
7g.155803620G>TCA458893128SHHc.669C>A (p.Arg223=)
c.301+2676C>A (n.301+2676C>A)
n.471+2676C>A
c.408C>A (p.Arg136=)
c.330C>A (p.Arg110=)
n.562+2676C>A
dbSNP gnomAD v2 gnomAD v4
7g.155803621C>ACA370146498SHHc.668G>T (p.Arg223Leu)
c.301+2675G>T (n.301+2675G>T)
n.471+2675G>T
c.407G>T (p.Arg136Leu)
c.329G>T (p.Arg110Leu)
n.562+2675G>T
gnomAD v4
7g.155803621C=CA1754768962SHHc.668G= (p.Arg223=)
c.301+2675G= (n.301+2675G=)
n.471+2675G=
c.407G= (p.Arg136=)
c.329G= (p.Arg110=)
n.562+2675G=
7g.155803621C>GCA370146499SHHc.668G>C (p.Arg223Pro)
c.301+2675G>C (n.301+2675G>C)
n.471+2675G>C
c.407G>C (p.Arg136Pro)
c.329G>C (p.Arg110Pro)
n.562+2675G>C
7g.155803621C>TCA370146501SHHc.668G>A (p.Arg223His)
c.301+2675G>A (n.301+2675G>A)
n.471+2675G>A
c.407G>A (p.Arg136His)
c.329G>A (p.Arg110His)
n.562+2675G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.155803622G>ACA370146504SHHc.667C>T (p.Arg223Cys)
c.301+2674C>T (n.301+2674C>T)
n.471+2674C>T
c.406C>T (p.Arg136Cys)
c.328C>T (p.Arg110Cys)
n.562+2674C>T
gnomAD v4 COSMIC
7g.155803622G>CCA370146505SHHc.667C>G (p.Arg223Gly)
c.301+2674C>G (n.301+2674C>G)
n.471+2674C>G
c.406C>G (p.Arg136Gly)
c.328C>G (p.Arg110Gly)
n.562+2674C>G
7g.155803622G>TCA370146507SHHc.667C>A (p.Arg223Ser)
c.301+2674C>A (n.301+2674C>A)
n.471+2674C>A
c.406C>A (p.Arg136Ser)
c.328C>A (p.Arg110Ser)
n.562+2674C>A
gnomAD v4
7g.155803623G>ACA4586960SHHc.666C>T (p.Asp222=)
c.301+2673C>T (n.301+2673C>T)
n.471+2673C>T
c.405C>T (p.Asp135=)
c.327C>T (p.Asp109=)
n.562+2673C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.155803623G>CCA370146510SHHc.666C>G (p.Asp222Glu)
c.301+2673C>G (n.301+2673C>G)
n.471+2673C>G
c.405C>G (p.Asp135Glu)
c.327C>G (p.Asp109Glu)
n.562+2673C>G
7g.155803623G=CA1754768971SHHc.666C= (p.Asp222=)
c.301+2673C= (n.301+2673C=)
n.471+2673C=
c.405C= (p.Asp135=)
c.327C= (p.Asp109=)
n.562+2673C=
7g.155803623G>TCA370146512SHHc.666C>A (p.Asp222Glu)
c.301+2673C>A (n.301+2673C>A)
n.471+2673C>A
c.405C>A (p.Asp135Glu)
c.327C>A (p.Asp109Glu)
n.562+2673C>A
gnomAD v4
7g.155803624T>ACA370146514SHHc.665A>T (p.Asp222Val)
c.301+2672A>T (n.301+2672A>T)
n.471+2672A>T
c.404A>T (p.Asp135Val)
c.326A>T (p.Asp109Val)
n.562+2672A>T
7g.155803624T>CCA370146516SHHc.665A>G (p.Asp222Gly)
c.301+2672A>G (n.301+2672A>G)
n.471+2672A>G
c.404A>G (p.Asp135Gly)
c.326A>G (p.Asp109Gly)
n.562+2672A>G
7g.155803624T>GCA370146518SHHc.665A>C (p.Asp222Ala)
c.301+2672A>C (n.301+2672A>C)
n.471+2672A>C
c.404A>C (p.Asp135Ala)
c.326A>C (p.Asp109Ala)
n.562+2672A>C
7g.155803625C>ACA370146522SHHc.664G>T (p.Asp222Tyr)
c.301+2671G>T (n.301+2671G>T)
n.471+2671G>T
c.403G>T (p.Asp135Tyr)
c.325G>T (p.Asp109Tyr)
n.562+2671G>T
gnomAD v4
7g.155803625C=CA1754768976SHHc.664G= (p.Asp222=)
c.301+2671G= (n.301+2671G=)
n.471+2671G=
c.403G= (p.Asp135=)
c.325G= (p.Asp109=)
n.562+2671G=
7g.155803625C>GCA370146521SHHc.664G>C (p.Asp222His)
c.301+2671G>C (n.301+2671G>C)
n.471+2671G>C
c.403G>C (p.Asp135His)
c.325G>C (p.Asp109His)
n.562+2671G>C
7g.155803625C>TCA345225SHHc.664G>A (p.Asp222Asn)
c.301+2671G>A (n.301+2671G>A)
n.471+2671G>A
c.403G>A (p.Asp135Asn)
c.325G>A (p.Asp109Asn)
n.562+2671G>A
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.155803628delCA2685800089SHHc.664del (p.Asp222ThrfsTer?)
c.301+2671del (n.301+2671del)
n.471+2671del
c.403del (p.Asp135ThrfsTer?)
c.325del (p.Asp109ThrfsTer?)
n.562+2671del
gnomAD v4
7g.155803627_155803628delCA2685800091SHHc.663_664del (p.Asp222ProfsTer?)
c.301+2670_301+2671del (n.301+2670_301+2671del)
n.471+2670_471+2671del
c.402_403del (p.Asp135ProfsTer?)
c.324_325del (p.Asp109ProfsTer?)
n.562+2670_562+2671del
gnomAD v4
7g.155803626C>ACA458893131SHHc.663G>T (p.Gly221=)
c.301+2670G>T (n.301+2670G>T)
n.471+2670G>T
c.402G>T (p.Gly134=)
c.324G>T (p.Gly108=)
n.562+2670G>T
7g.155803626C>GCA458893132SHHc.663G>C (p.Gly221=)
c.301+2670G>C (n.301+2670G>C)
n.471+2670G>C
c.402G>C (p.Gly134=)
c.324G>C (p.Gly108=)
n.562+2670G>C
7g.155803626C>TCA458893133SHHc.663G>A (p.Gly221=)
c.301+2670G>A (n.301+2670G>A)
n.471+2670G>A
c.402G>A (p.Gly134=)
c.324G>A (p.Gly108=)
n.562+2670G>A
gnomAD v4

Number of alleles fetched