| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132908273A= | CA1821000345 | TG | c.3935A= (p.Asp1312=) c.590A= c.3674A= (p.Asp1225=) | |
| 8 | g.132908273A>C | CA372244008 | TG | c.3935A>C (p.Asp1312Ala) c.590A>C c.3674A>C (p.Asp1225Ala) | |
| 8 | g.132908273A>G | CA4883953 | TG | c.3935A>G (p.Asp1312Gly) c.590A>G c.3674A>G (p.Asp1225Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132908273A>T | CA372244012 | TG | c.3935A>T (p.Asp1312Val) c.590A>T c.3674A>T (p.Asp1225Val) | gnomAD v4 |
| 8 | g.132908273_132908274insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGG | CA2604872268 | TG | c.3935_3936insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGG (p.Asp1312GlufsTer31) c.590_591insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGG c.3674_3675insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGG (p.Asp1225GlufsTer31) | gnomAD v3 gnomAD v4 |
| 8 | g.132908274T>A | CA372244014 | TG | c.3936T>A (p.Asp1312Glu) c.591T>A c.3675T>A (p.Asp1225Glu) | |
| 8 | g.132908274T>C | CA463011604 | TG | c.3936T>C (p.Asp1312=) c.591T>C c.3675T>C (p.Asp1225=) | |
| 8 | g.132908274T>G | CA372244016 | TG | c.3936T>G (p.Asp1312Glu) c.591T>G c.3675T>G (p.Asp1225Glu) | |
| 8 | g.132908275T>A | CA372244019 | TG | c.3937T>A (p.Leu1313Met) c.592T>A c.3676T>A (p.Leu1226Met) | |
| 8 | g.132908275T>C | CA463011605 | TG | c.3937T>C (p.Leu1313=) c.592T>C c.3676T>C (p.Leu1226=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132908275T>G | CA372244021 | TG | c.3937T>G (p.Leu1313Val) c.592T>G c.3676T>G (p.Leu1226Val) | |
| 8 | g.132908275T= | CA1821000350 | TG | c.3937T= (p.Leu1313=) c.592T= c.3676T= (p.Leu1226=) | |
| 8 | g.132908275_132908278delinsTTGC | CA1821000349 | TG | c.3937_3940delinsTTGC (p.Leu1313=) c.592_595delinsTTGC c.3676_3679delinsTTGC (p.Leu1226=) | |
| 8 | g.132908276T>A | CA372244024 | TG | c.3938T>A (p.Leu1313Ter) c.593T>A c.3677T>A (p.Leu1226Ter) | |
| 8 | g.132908276T>C | CA372244027 | TG | c.3938T>C (p.Leu1313Ser) c.593T>C c.3677T>C (p.Leu1226Ser) | |
| 8 | g.132908276T>G | CA372244029 | TG | c.3938T>G (p.Leu1313Trp) c.593T>G c.3677T>G (p.Leu1226Trp) | |
| 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.132908277G>A | CA463011606 | TG | c.3939G>A (p.Leu1313=) c.594G>A c.3678G>A (p.Leu1226=) | |
| 8 | g.132908277G>C | CA372244031 | TG | c.3939G>C (p.Leu1313Phe) c.594G>C c.3678G>C (p.Leu1226Phe) | |
| 8 | g.132908277G= | CA1821000361 | TG | c.3939G= (p.Leu1313=) c.594G= c.3678G= (p.Leu1226=) | |
| 8 | g.132908277G>T | CA4883954 | TG | c.3939G>T (p.Leu1313Phe) c.594G>T c.3678G>T (p.Leu1226Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132908278C>A | CA372244039 | TG | c.3940C>A (p.Leu1314Met) c.595C>A c.3679C>A (p.Leu1227Met) | |
| 8 | g.132908278C>G | CA372244037 | TG | c.3940C>G (p.Leu1314Val) c.595C>G c.3679C>G (p.Leu1227Val) | |
| 8 | g.132908278C>T | CA463011607 | TG | c.3940C>T (p.Leu1314=) c.595C>T c.3679C>T (p.Leu1227=) | |
| 8 | g.132908279T>A | CA372244042 | TG | c.3941T>A (p.Leu1314Gln) c.596T>A c.3680T>A (p.Leu1227Gln) | |
| 8 | g.132908279T>C | CA372244044 | TG | c.3941T>C (p.Leu1314Pro) c.596T>C c.3680T>C (p.Leu1227Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132908279T>G | CA372244046 | TG | c.3941T>G (p.Leu1314Arg) c.596T>G c.3680T>G (p.Leu1227Arg) | |
| 8 | g.132908279T= | CA1821000366 | TG | c.3941T= (p.Leu1314=) c.596T= c.3680T= (p.Leu1227=) | |
| 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) |