Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.155803613C>A | CA370146473 | SHH | c.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 | |
7 | g.155803613C= | CA1754768931 | SHH | c.676G= (p.Ala226=) c.301+2683G= (n.301+2683G=) n.471+2683G= c.415G= (p.Ala139=) c.337G= (p.Ala113=) n.562+2683G= | |
7 | g.155803613C>G | CA370146474 | SHH | c.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 | |
7 | g.155803613C>T | CA340834 | SHH | c.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 |
7 | g.155803614C>A | CA458893117 | SHH | c.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 | |
7 | g.155803614C>G | CA458893118 | SHH | c.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 | |
7 | g.155803614C>T | CA458893119 | SHH | c.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 | |
7 | g.155803615A>C | CA370146476 | SHH | c.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 | |
7 | g.155803615A>G | CA370146478 | SHH | c.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 |
7 | g.155803615A>T | CA370146479 | SHH | c.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 | |
7 | g.155803616G>A | CA458893123 | SHH | c.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 |
7 | g.155803616G>C | CA370146481 | SHH | c.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 | |
7 | g.155803616G>T | CA370146482 | SHH | c.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 |
7 | g.155803617C>A | CA458893124 | SHH | c.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 |
7 | g.155803617C>G | CA458893125 | SHH | c.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 |
7 | g.155803617C>T | CA458893126 | SHH | c.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 |
7 | g.155803618A= | CA1754768949 | SHH | c.671T= (p.Val224=) c.301+2678T= (n.301+2678T=) n.471+2678T= c.410T= (p.Val137=) c.332T= (p.Val111=) n.562+2678T= | |
7 | g.155803618A>C | CA370146485 | SHH | c.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 |
7 | g.155803618A>G | CA370146486 | SHH | c.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 | |
7 | g.155803618A>T | CA340833 | SHH | c.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 |
7 | g.155803619C>A | CA370146494 | SHH | c.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 | |
7 | g.155803619C>G | CA370146491 | SHH | c.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 | |
7 | g.155803619C>T | CA370146490 | SHH | c.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 |
7 | g.155803620G>A | CA4586959 | SHH | c.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 |
7 | g.155803620G>C | CA458893129 | SHH | c.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 | |
7 | g.155803620G= | CA1754768958 | SHH | c.669C= (p.Arg223=) c.301+2676C= (n.301+2676C=) n.471+2676C= c.408C= (p.Arg136=) c.330C= (p.Arg110=) n.562+2676C= | |
7 | g.155803620G>T | CA458893128 | SHH | c.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 |
7 | g.155803621C>A | CA370146498 | SHH | c.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 |
7 | g.155803621C= | CA1754768962 | SHH | c.668G= (p.Arg223=) c.301+2675G= (n.301+2675G=) n.471+2675G= c.407G= (p.Arg136=) c.329G= (p.Arg110=) n.562+2675G= | |
7 | g.155803621C>G | CA370146499 | SHH | c.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 | |
7 | g.155803621C>T | CA370146501 | SHH | c.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 |
7 | g.155803622G>A | CA370146504 | SHH | c.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 |
7 | g.155803622G>C | CA370146505 | SHH | c.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 | |
7 | g.155803622G>T | CA370146507 | SHH | c.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 |
7 | g.155803623G>A | CA4586960 | SHH | c.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 |
7 | g.155803623G>C | CA370146510 | SHH | c.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 | |
7 | g.155803623G= | CA1754768971 | SHH | c.666C= (p.Asp222=) c.301+2673C= (n.301+2673C=) n.471+2673C= c.405C= (p.Asp135=) c.327C= (p.Asp109=) n.562+2673C= | |
7 | g.155803623G>T | CA370146512 | SHH | c.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 |
7 | g.155803624T>A | CA370146514 | SHH | c.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 | |
7 | g.155803624T>C | CA370146516 | SHH | c.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 | |
7 | g.155803624T>G | CA370146518 | SHH | c.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 | |
7 | g.155803625C>A | CA370146522 | SHH | c.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 |
7 | g.155803625C= | CA1754768976 | SHH | c.664G= (p.Asp222=) c.301+2671G= (n.301+2671G=) n.471+2671G= c.403G= (p.Asp135=) c.325G= (p.Asp109=) n.562+2671G= | |
7 | g.155803625C>G | CA370146521 | SHH | c.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 | |
7 | g.155803625C>T | CA345225 | SHH | c.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 |
7 | g.155803628del | CA2685800089 | SHH | c.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 |
7 | g.155803627_155803628del | CA2685800091 | SHH | c.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 |
7 | g.155803626C>A | CA458893131 | SHH | c.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 | |
7 | g.155803626C>G | CA458893132 | SHH | c.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 | |
7 | g.155803626C>T | CA458893133 | SHH | c.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 |