Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.132908279_132908281del | CA585277574 | TG | c.3941_3943del (p.Leu1314del) c.596_598del c.3680_3682del (p.Leu1227del) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.132908280G>A | CA463011608 | TG | c.3942G>A (p.Leu1314=) c.597G>A c.3681G>A (p.Leu1227=) | gnomAD v4 |
8 | g.132908280G>C | CA463011609 | TG | c.3942G>C (p.Leu1314=) c.597G>C c.3681G>C (p.Leu1227=) | |
8 | g.132908280G>T | CA463011610 | TG | c.3942G>T (p.Leu1314=) c.597G>T c.3681G>T (p.Leu1227=) | gnomAD v4 |
8 | g.132908281C>A | CA372244048 | TG | c.3943C>A (p.Gln1315Lys) c.598C>A c.3682C>A (p.Gln1228Lys) | gnomAD v4 |
8 | g.132908281C>G | CA372244051 | TG | c.3943C>G (p.Gln1315Glu) c.598C>G c.3682C>G (p.Gln1228Glu) | |
8 | g.132908281C>T | CA372244052 | TG | c.3943C>T (p.Gln1315Ter) c.598C>T c.3682C>T (p.Gln1228Ter) | gnomAD v4 |
8 | g.132908282A>C | CA372244054 | TG | c.3944A>C (p.Gln1315Pro) c.599A>C c.3683A>C (p.Gln1228Pro) | |
8 | g.132908282A>G | CA372244056 | TG | c.3944A>G (p.Gln1315Arg) c.599A>G c.3683A>G (p.Gln1228Arg) | |
8 | g.132908282A>T | CA372244059 | TG | c.3944A>T (p.Gln1315Leu) c.599A>T c.3683A>T (p.Gln1228Leu) | |
8 | g.132908283G>A | CA463011611 | TG | c.3945G>A (p.Gln1315=) c.600G>A c.3684G>A (p.Gln1228=) | |
8 | g.132908283G>C | CA372244061 | TG | c.3945G>C (p.Gln1315His) c.600G>C c.3684G>C (p.Gln1228His) | |
8 | g.132908283G>T | CA372244064 | TG | c.3945G>T (p.Gln1315His) c.600G>T c.3684G>T (p.Gln1228His) | |
8 | g.132908284A>C | CA372244066 | TG | c.3946A>C (p.Thr1316Pro) c.601A>C c.3685A>C (p.Thr1229Pro) | |
8 | g.132908284A>G | CA372244068 | TG | c.3946A>G (p.Thr1316Ala) c.601A>G c.3685A>G (p.Thr1229Ala) | |
8 | g.132908284A>T | CA372244070 | TG | c.3946A>T (p.Thr1316Ser) c.601A>T c.3685A>T (p.Thr1229Ser) | COSMIC |
8 | g.132908285C>A | CA372244074 | TG | c.3947C>A (p.Thr1316Asn) c.602C>A c.3686C>A (p.Thr1229Asn) | |
8 | g.132908285C>G | CA372244077 | TG | c.3947C>G (p.Thr1316Ser) c.602C>G c.3686C>G (p.Thr1229Ser) | |
8 | g.132908285C>T | CA372244073 | TG | c.3947C>T (p.Thr1316Ile) c.602C>T c.3686C>T (p.Thr1229Ile) | |
8 | g.132908286T>A | CA463011612 | TG | c.3948T>A (p.Thr1316=) c.603T>A c.3687T>A (p.Thr1229=) | |
8 | g.132908286T>C | CA463011614 | TG | c.3948T>C (p.Thr1316=) c.603T>C c.3687T>C (p.Thr1229=) | |
8 | g.132908286T>G | CA463011613 | TG | c.3948T>G (p.Thr1316=) c.603T>G c.3687T>G (p.Thr1229=) | |
8 | g.132908287T>A | CA372244080 | TG | c.3949T>A (p.Phe1317Ile) c.604T>A c.3688T>A (p.Phe1230Ile) | |
8 | g.132908287T>C | CA186300797 | TG | c.3949T>C (p.Phe1317Leu) c.604T>C c.3688T>C (p.Phe1230Leu) | dbSNP gnomAD v4 |
8 | g.132908287T>G | CA372244082 | TG | c.3949T>G (p.Phe1317Val) c.604T>G c.3688T>G (p.Phe1230Val) | |
8 | g.132908287T= | CA1821000369 | TG | c.3949T= (p.Phe1317=) c.604T= c.3688T= (p.Phe1230=) | |
8 | g.132908288T>A | CA372244085 | TG | c.3950T>A (p.Phe1317Tyr) c.605T>A c.3689T>A (p.Phe1230Tyr) | |
8 | g.132908288T>C | CA4883955 | TG | c.3950T>C (p.Phe1317Ser) c.605T>C c.3689T>C (p.Phe1230Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.132908288T>G | CA4883956 | TG | c.3950T>G (p.Phe1317Cys) c.605T>G c.3689T>G (p.Phe1230Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.132908288T= | CA1821000372 | TG | c.3950T= (p.Phe1317=) c.605T= c.3689T= (p.Phe1230=) | |
8 | g.132908289C>A | CA372244092 | TG | c.3951C>A (p.Phe1317Leu) c.606C>A c.3690C>A (p.Phe1230Leu) | |
8 | g.132908289C>G | CA372244093 | TG | c.3951C>G (p.Phe1317Leu) c.606C>G c.3690C>G (p.Phe1230Leu) | |
8 | g.132908289C>T | CA463011615 | TG | c.3951C>T (p.Phe1317=) c.606C>T c.3690C>T (p.Phe1230=) | gnomAD v4 |
8 | g.132908290del | CA2552640221 | TG | c.3952del (p.Gln1318ArgfsTer8) c.607del c.3691del (p.Gln1231ArgfsTer8) | |
8 | g.132908290C>A | CA372244096 | TG | c.3952C>A (p.Gln1318Lys) c.607C>A c.3691C>A (p.Gln1231Lys) | |
8 | g.132908290C= | CA1821000376 | TG | c.3952C= (p.Gln1318=) c.607C= c.3691C= (p.Gln1231=) | |
8 | g.132908290C>G | CA372244098 | TG | c.3952C>G (p.Gln1318Glu) c.607C>G c.3691C>G (p.Gln1231Glu) | |
8 | g.132908290C>T | CA372244101 | TG | c.3952C>T (p.Gln1318Ter) c.607C>T c.3691C>T (p.Gln1231Ter) | dbSNP gnomAD v2 |
8 | g.132908291A= | CA1821000381 | TG | c.3953A= (p.Gln1318=) c.608A= c.3692A= (p.Gln1231=) | |
8 | g.132908291A>C | CA372244103 | TG | c.3953A>C (p.Gln1318Pro) c.608A>C c.3692A>C (p.Gln1231Pro) | |
8 | g.132908291A>G | CA4883957 | TG | c.3953A>G (p.Gln1318Arg) c.608A>G c.3692A>G (p.Gln1231Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.132908291A>T | CA372244104 | TG | c.3953A>T (p.Gln1318Leu) c.608A>T c.3692A>T (p.Gln1231Leu) | |
8 | g.132908292G>A | CA463011616 | TG | c.3954G>A (p.Gln1318=) c.609G>A c.3693G>A (p.Gln1231=) | gnomAD v4 |
8 | g.132908292G>C | CA372244105 | TG | c.3954G>C (p.Gln1318His) c.609G>C c.3693G>C (p.Gln1231His) | |
8 | g.132908292G>T | CA372244106 | TG | c.3954G>T (p.Gln1318His) c.609G>T c.3693G>T (p.Gln1231His) | |
8 | g.132908293G>A | CA372244109 | TG | c.3955G>A (p.Val1319Ile) c.610G>A c.3694G>A (p.Val1232Ile) | gnomAD v4 COSMIC |
8 | g.132908293G>C | CA372244113 | TG | c.3955G>C (p.Val1319Leu) c.610G>C c.3694G>C (p.Val1232Leu) | |
8 | g.132908293G>T | CA372244112 | TG | c.3955G>T (p.Val1319Phe) c.610G>T c.3694G>T (p.Val1232Phe) | |
8 | g.132908294T>A | CA372244115 | TG | c.3956T>A (p.Val1319Asp) c.611T>A c.3695T>A (p.Val1232Asp) | |
8 | g.132908294T>C | CA372244117 | TG | c.3956T>C (p.Val1319Ala) c.611T>C c.3695T>C (p.Val1232Ala) |