| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.26580351C>A | CA391463949 | GABRB3 | c.650G>T (p.Arg217Leu) n.693G>T c.333G>T c.395G>T (p.Arg132Leu) c.551G>T (p.Arg184Leu) c.437G>T (p.Arg146Leu) c.818G>T (p.Arg273Leu) c.*111G>T (n.*111G>T) n.562G>T c.*482G>T (n.*482G>T) n.321G>T c.473G>T (p.Arg158Leu) | |
| 15 | g.26580351C= | CA2165760508 | GABRB3 | c.650G= (p.Arg217=) n.693G= c.333G= c.395G= (p.Arg132=) c.551G= (p.Arg184=) c.437G= (p.Arg146=) c.818G= (p.Arg273=) c.*111G= (n.*111G=) n.562G= c.*482G= (n.*482G=) n.321G= c.473G= (p.Arg158=) | |
| 15 | g.26580351C>G | CA391463950 | GABRB3 | c.650G>C (p.Arg217Pro) n.693G>C c.333G>C c.395G>C (p.Arg132Pro) c.551G>C (p.Arg184Pro) c.437G>C (p.Arg146Pro) c.818G>C (p.Arg273Pro) c.*111G>C (n.*111G>C) n.562G>C c.*482G>C (n.*482G>C) n.321G>C c.473G>C (p.Arg158Pro) | |
| 15 | g.26580351C>T | CA126256 | GABRB3 | c.650G>A (p.Arg217His) n.693G>A c.333G>A c.395G>A (p.Arg132His) c.551G>A (p.Arg184His) c.437G>A (p.Arg146His) c.818G>A (p.Arg273His) c.*111G>A (n.*111G>A) n.562G>A c.*482G>A (n.*482G>A) n.321G>A c.473G>A (p.Arg158His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.26580352G>A | CA391463951 | GABRB3 | c.649C>T (p.Arg217Cys) n.692C>T c.332C>T c.394C>T (p.Arg132Cys) c.550C>T (p.Arg184Cys) c.436C>T (p.Arg146Cys) c.817C>T (p.Arg273Cys) c.*110C>T (n.*110C>T) n.561C>T c.*481C>T (n.*481C>T) n.320C>T c.472C>T (p.Arg158Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.26580352G>C | CA391463952 | GABRB3 | c.649C>G (p.Arg217Gly) n.692C>G c.332C>G c.394C>G (p.Arg132Gly) c.550C>G (p.Arg184Gly) c.436C>G (p.Arg146Gly) c.817C>G (p.Arg273Gly) c.*110C>G (n.*110C>G) n.561C>G c.*481C>G (n.*481C>G) n.320C>G c.472C>G (p.Arg158Gly) | |
| 15 | g.26580352G= | CA2165760509 | GABRB3 | c.649C= (p.Arg217=) n.692C= c.332C= c.394C= (p.Arg132=) c.550C= (p.Arg184=) c.436C= (p.Arg146=) c.817C= (p.Arg273=) c.*110C= (n.*110C=) n.561C= c.*481C= (n.*481C=) n.320C= c.472C= (p.Arg158=) | |
| 15 | g.26580352G>T | CA391463953 | GABRB3 | c.649C>A (p.Arg217Ser) n.692C>A c.332C>A c.394C>A (p.Arg132Ser) c.550C>A (p.Arg184Ser) c.436C>A (p.Arg146Ser) c.817C>A (p.Arg273Ser) c.*110C>A (n.*110C>A) n.561C>A c.*481C>A (n.*481C>A) n.320C>A c.472C>A (p.Arg158Ser) | COSMIC COSMIC COSMIC |
| 15 | g.26580353G>A | CA7437393 | GABRB3 | c.648C>T (p.His216=) n.691C>T c.331C>T c.393C>T (p.His131=) c.549C>T (p.His183=) c.435C>T (p.His145=) c.816C>T (p.His272=) c.*109C>T (n.*109C>T) n.560C>T c.*480C>T (n.*480C>T) n.319C>T c.471C>T (p.His157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.26580353G>C | CA391463954 | GABRB3 | c.648C>G (p.His216Gln) n.691C>G c.331C>G c.393C>G (p.His131Gln) c.549C>G (p.His183Gln) c.435C>G (p.His145Gln) c.816C>G (p.His272Gln) c.*109C>G (n.*109C>G) n.560C>G c.*480C>G (n.*480C>G) n.319C>G c.471C>G (p.His157Gln) | |
| 15 | g.26580353G= | CA2165760510 | GABRB3 | c.648C= (p.His216=) n.691C= c.331C= c.393C= (p.His131=) c.549C= (p.His183=) c.435C= (p.His145=) c.816C= (p.His272=) c.*109C= (n.*109C=) n.560C= c.*480C= (n.*480C=) n.319C= c.471C= (p.His157=) | |
| 15 | g.26580353G>T | CA391463955 | GABRB3 | c.648C>A (p.His216Gln) n.691C>A c.331C>A c.393C>A (p.His131Gln) c.549C>A (p.His183Gln) c.435C>A (p.His145Gln) c.816C>A (p.His272Gln) c.*109C>A (n.*109C>A) n.560C>A c.*480C>A (n.*480C>A) n.319C>A c.471C>A (p.His157Gln) | |
| 15 | g.26580354T>A | CA391463956 | GABRB3 | c.647A>T (p.His216Leu) n.690A>T c.330A>T c.392A>T (p.His131Leu) c.548A>T (p.His183Leu) c.434A>T (p.His145Leu) c.815A>T (p.His272Leu) c.*108A>T (n.*108A>T) n.559A>T c.*479A>T (n.*479A>T) n.318A>T c.470A>T (p.His157Leu) | |
| 15 | g.26580354T>C | CA391463957 | GABRB3 | c.647A>G (p.His216Arg) n.690A>G c.330A>G c.392A>G (p.His131Arg) c.548A>G (p.His183Arg) c.434A>G (p.His145Arg) c.815A>G (p.His272Arg) c.*108A>G (n.*108A>G) n.559A>G c.*479A>G (n.*479A>G) n.318A>G c.470A>G (p.His157Arg) | |
| 15 | g.26580354T>G | CA391463958 | GABRB3 | c.647A>C (p.His216Pro) n.690A>C c.330A>C c.392A>C (p.His131Pro) c.548A>C (p.His183Pro) c.434A>C (p.His145Pro) c.815A>C (p.His272Pro) c.*108A>C (n.*108A>C) n.559A>C c.*479A>C (n.*479A>C) n.318A>C c.470A>C (p.His157Pro) | |
| 15 | g.26580355G>A | CA391463959 | GABRB3 | c.646C>T (p.His216Tyr) n.689C>T c.329C>T c.391C>T (p.His131Tyr) c.547C>T (p.His183Tyr) c.433C>T (p.His145Tyr) c.814C>T (p.His272Tyr) c.*107C>T (n.*107C>T) n.558C>T c.*478C>T (n.*478C>T) n.317C>T c.469C>T (p.His157Tyr) | gnomAD v4 |
| 15 | g.26580355G>C | CA391463960 | GABRB3 | c.646C>G (p.His216Asp) n.689C>G c.329C>G c.391C>G (p.His131Asp) c.547C>G (p.His183Asp) c.433C>G (p.His145Asp) c.814C>G (p.His272Asp) c.*107C>G (n.*107C>G) n.558C>G c.*478C>G (n.*478C>G) n.317C>G c.469C>G (p.His157Asp) | |
| 15 | g.26580355G>T | CA391463961 | GABRB3 | c.646C>A (p.His216Asn) n.689C>A c.329C>A c.391C>A (p.His131Asn) c.547C>A (p.His183Asn) c.433C>A (p.His145Asn) c.814C>A (p.His272Asn) c.*107C>A (n.*107C>A) n.558C>A c.*478C>A (n.*478C>A) n.317C>A c.469C>A (p.His157Asn) | |
| 15 | g.26580356C>A | CA391463962 | GABRB3 | c.645G>T (p.Glu215Asp) n.688G>T c.328G>T c.390G>T (p.Glu130Asp) c.546G>T (p.Glu182Asp) c.432G>T (p.Glu144Asp) c.813G>T (p.Glu271Asp) c.*106G>T (n.*106G>T) n.557G>T c.*477G>T (n.*477G>T) n.316G>T c.468G>T (p.Glu156Asp) | |
| 15 | g.26580356C= | CA2165760511 | GABRB3 | c.645G= (p.Glu215=) n.688G= c.328G= c.390G= (p.Glu130=) c.546G= (p.Glu182=) c.432G= (p.Glu144=) c.813G= (p.Glu271=) c.*106G= (n.*106G=) n.557G= c.*477G= (n.*477G=) n.316G= c.468G= (p.Glu156=) | |
| 15 | g.26580356C>G | CA391463963 | GABRB3 | c.645G>C (p.Glu215Asp) n.688G>C c.328G>C c.390G>C (p.Glu130Asp) c.546G>C (p.Glu182Asp) c.432G>C (p.Glu144Asp) c.813G>C (p.Glu271Asp) c.*106G>C (n.*106G>C) n.557G>C c.*477G>C (n.*477G>C) n.316G>C c.468G>C (p.Glu156Asp) | |
| 15 | g.26580356C>T | CA489071720 | GABRB3 | c.645G>A (p.Glu215=) n.688G>A c.328G>A c.390G>A (p.Glu130=) c.546G>A (p.Glu182=) c.432G>A (p.Glu144=) c.813G>A (p.Glu271=) c.*106G>A (n.*106G>A) n.557G>A c.*477G>A (n.*477G>A) n.316G>A c.468G>A (p.Glu156=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.26580357T>A | CA391463964 | GABRB3 | c.644A>T (p.Glu215Val) n.687A>T c.327A>T c.389A>T (p.Glu130Val) c.545A>T (p.Glu182Val) c.431A>T (p.Glu144Val) c.812A>T (p.Glu271Val) c.*105A>T (n.*105A>T) n.556A>T c.*476A>T (n.*476A>T) n.315A>T c.467A>T (p.Glu156Val) | |
| 15 | g.26580357T>C | CA391463965 | GABRB3 | c.644A>G (p.Glu215Gly) n.687A>G c.327A>G c.389A>G (p.Glu130Gly) c.545A>G (p.Glu182Gly) c.431A>G (p.Glu144Gly) c.812A>G (p.Glu271Gly) c.*105A>G (n.*105A>G) n.556A>G c.*476A>G (n.*476A>G) n.315A>G c.467A>G (p.Glu156Gly) | |
| 15 | g.26580357T>G | CA391463966 | GABRB3 | c.644A>C (p.Glu215Ala) n.687A>C c.327A>C c.389A>C (p.Glu130Ala) c.545A>C (p.Glu182Ala) c.431A>C (p.Glu144Ala) c.812A>C (p.Glu271Ala) c.*105A>C (n.*105A>C) n.556A>C c.*476A>C (n.*476A>C) n.315A>C c.467A>C (p.Glu156Ala) | |
| 15 | g.26580358C>A | CA391463969 | GABRB3 | c.643G>T (p.Glu215Ter) n.686G>T c.326G>T c.388G>T (p.Glu130Ter) c.544G>T (p.Glu182Ter) c.430G>T (p.Glu144Ter) c.811G>T (p.Glu271Ter) c.*104G>T (n.*104G>T) n.555G>T c.*475G>T (n.*475G>T) n.314G>T c.466G>T (p.Glu156Ter) | |
| 15 | g.26580358C>G | CA391463968 | GABRB3 | c.643G>C (p.Glu215Gln) n.686G>C c.326G>C c.388G>C (p.Glu130Gln) c.544G>C (p.Glu182Gln) c.430G>C (p.Glu144Gln) c.811G>C (p.Glu271Gln) c.*104G>C (n.*104G>C) n.555G>C c.*475G>C (n.*475G>C) n.314G>C c.466G>C (p.Glu156Gln) | |
| 15 | g.26580358C>T | CA391463967 | GABRB3 | c.643G>A (p.Glu215Lys) n.686G>A c.326G>A c.388G>A (p.Glu130Lys) c.544G>A (p.Glu182Lys) c.430G>A (p.Glu144Lys) c.811G>A (p.Glu271Lys) c.*104G>A (n.*104G>A) n.555G>A c.*475G>A (n.*475G>A) n.314G>A c.466G>A (p.Glu156Lys) | |
| 15 | g.26580359C>A | CA489071723 | GABRB3 | c.642G>T (p.Val214=) n.685G>T c.325G>T c.387G>T (p.Val129=) c.543G>T (p.Val181=) c.429G>T (p.Val143=) c.810G>T (p.Val270=) c.*103G>T (n.*103G>T) n.554G>T c.*474G>T (n.*474G>T) n.313G>T c.465G>T (p.Val155=) | |
| 15 | g.26580359C>G | CA489071722 | GABRB3 | c.642G>C (p.Val214=) n.685G>C c.325G>C c.387G>C (p.Val129=) c.543G>C (p.Val181=) c.429G>C (p.Val143=) c.810G>C (p.Val270=) c.*103G>C (n.*103G>C) n.554G>C c.*474G>C (n.*474G>C) n.313G>C c.465G>C (p.Val155=) | |
| 15 | g.26580359C>T | CA489071721 | GABRB3 | c.642G>A (p.Val214=) n.685G>A c.325G>A c.387G>A (p.Val129=) c.543G>A (p.Val181=) c.429G>A (p.Val143=) c.810G>A (p.Val270=) c.*103G>A (n.*103G>A) n.554G>A c.*474G>A (n.*474G>A) n.313G>A c.465G>A (p.Val155=) | COSMIC COSMIC COSMIC |
| 15 | g.26580360A>C | CA391463970 | GABRB3 | c.641T>G (p.Val214Gly) n.684T>G c.324T>G c.386T>G (p.Val129Gly) c.542T>G (p.Val181Gly) c.428T>G (p.Val143Gly) c.809T>G (p.Val270Gly) c.*102T>G (n.*102T>G) n.553T>G c.*473T>G (n.*473T>G) n.312T>G c.464T>G (p.Val155Gly) | |
| 15 | g.26580360A>G | CA391463971 | GABRB3 | c.641T>C (p.Val214Ala) n.684T>C c.324T>C c.386T>C (p.Val129Ala) c.542T>C (p.Val181Ala) c.428T>C (p.Val143Ala) c.809T>C (p.Val270Ala) c.*102T>C (n.*102T>C) n.553T>C c.*473T>C (n.*473T>C) n.312T>C c.464T>C (p.Val155Ala) | |
| 15 | g.26580360A>T | CA391463972 | GABRB3 | c.641T>A (p.Val214Glu) n.684T>A c.324T>A c.386T>A (p.Val129Glu) c.542T>A (p.Val181Glu) c.428T>A (p.Val143Glu) c.809T>A (p.Val270Glu) c.*102T>A (n.*102T>A) n.553T>A c.*473T>A (n.*473T>A) n.312T>A c.464T>A (p.Val155Glu) | |
| 15 | g.26580361C>A | CA391463973 | GABRB3 | c.640G>T (p.Val214Leu) n.683G>T c.323G>T c.385G>T (p.Val129Leu) c.541G>T (p.Val181Leu) c.427G>T (p.Val143Leu) c.808G>T (p.Val270Leu) c.*101G>T (n.*101G>T) n.552G>T c.*472G>T (n.*472G>T) n.311G>T c.463G>T (p.Val155Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.26580361C= | CA2165760512 | GABRB3 | c.640G= (p.Val214=) n.683G= c.323G= c.385G= (p.Val129=) c.541G= (p.Val181=) c.427G= (p.Val143=) c.808G= (p.Val270=) c.*101G= (n.*101G=) n.552G= c.*472G= (n.*472G=) n.311G= c.463G= (p.Val155=) | |
| 15 | g.26580361C>G | CA391463974 | GABRB3 | c.640G>C (p.Val214Leu) n.683G>C c.323G>C c.385G>C (p.Val129Leu) c.541G>C (p.Val181Leu) c.427G>C (p.Val143Leu) c.808G>C (p.Val270Leu) c.*101G>C (n.*101G>C) n.552G>C c.*472G>C (n.*472G>C) n.311G>C c.463G>C (p.Val155Leu) | |
| 15 | g.26580361C>T | CA7437394 | GABRB3 | c.640G>A (p.Val214Met) n.683G>A c.323G>A c.385G>A (p.Val129Met) c.541G>A (p.Val181Met) c.427G>A (p.Val143Met) c.808G>A (p.Val270Met) c.*101G>A (n.*101G>A) n.552G>A c.*472G>A (n.*472G>A) n.311G>A c.463G>A (p.Val155Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.26580362G>A | CA7437395 | GABRB3 | c.639C>T (p.Ile213=) n.682C>T c.322C>T c.384C>T (p.Ile128=) c.540C>T (p.Ile180=) c.426C>T (p.Ile142=) c.807C>T (p.Ile269=) c.*100C>T (n.*100C>T) n.551C>T c.*471C>T (n.*471C>T) n.310C>T c.462C>T (p.Ile154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 15 | g.26580362G>C | CA391463975 | GABRB3 | c.639C>G (p.Ile213Met) n.682C>G c.322C>G c.384C>G (p.Ile128Met) c.540C>G (p.Ile180Met) c.426C>G (p.Ile142Met) c.807C>G (p.Ile269Met) c.*100C>G (n.*100C>G) n.551C>G c.*471C>G (n.*471C>G) n.310C>G c.462C>G (p.Ile154Met) | |
| 15 | g.26580362G= | CA2165760513 | GABRB3 | c.639C= (p.Ile213=) n.682C= c.322C= c.384C= (p.Ile128=) c.540C= (p.Ile180=) c.426C= (p.Ile142=) c.807C= (p.Ile269=) c.*100C= (n.*100C=) n.551C= c.*471C= (n.*471C=) n.310C= c.462C= (p.Ile154=) | |
| 15 | g.26580362G>T | CA489071724 | GABRB3 | c.639C>A (p.Ile213=) n.682C>A c.322C>A c.384C>A (p.Ile128=) c.540C>A (p.Ile180=) c.426C>A (p.Ile142=) c.807C>A (p.Ile269=) c.*100C>A (n.*100C>A) n.551C>A c.*471C>A (n.*471C>A) n.310C>A c.462C>A (p.Ile154=) | |
| 15 | g.26580363A= | CA2165760514 | GABRB3 | c.638T= (p.Ile213=) n.681T= c.321T= c.383T= (p.Ile128=) c.539T= (p.Ile180=) c.425T= (p.Ile142=) c.806T= (p.Ile269=) c.*99T= (n.*99T=) n.550T= c.*470T= (n.*470T=) n.309T= c.461T= (p.Ile154=) | |
| 15 | g.26580363A>C | CA391463976 | GABRB3 | c.638T>G (p.Ile213Ser) n.681T>G c.321T>G c.383T>G (p.Ile128Ser) c.539T>G (p.Ile180Ser) c.425T>G (p.Ile142Ser) c.806T>G (p.Ile269Ser) c.*99T>G (n.*99T>G) n.550T>G c.*470T>G (n.*470T>G) n.309T>G c.461T>G (p.Ile154Ser) | |
| 15 | g.26580363A>G | CA268156809 | GABRB3 | c.638T>C (p.Ile213Thr) n.681T>C c.321T>C c.383T>C (p.Ile128Thr) c.539T>C (p.Ile180Thr) c.425T>C (p.Ile142Thr) c.806T>C (p.Ile269Thr) c.*99T>C (n.*99T>C) n.550T>C c.*470T>C (n.*470T>C) n.309T>C c.461T>C (p.Ile154Thr) | dbSNP gnomAD v4 |
| 15 | g.26580363A>T | CA391463977 | GABRB3 | c.638T>A (p.Ile213Asn) n.681T>A c.321T>A c.383T>A (p.Ile128Asn) c.539T>A (p.Ile180Asn) c.425T>A (p.Ile142Asn) c.806T>A (p.Ile269Asn) c.*99T>A (n.*99T>A) n.550T>A c.*470T>A (n.*470T>A) n.309T>A c.461T>A (p.Ile154Asn) | |
| 15 | g.26580364T>A | CA391463978 | GABRB3 | c.637A>T (p.Ile213Phe) n.680A>T c.320A>T c.382A>T (p.Ile128Phe) c.538A>T (p.Ile180Phe) c.424A>T (p.Ile142Phe) c.805A>T (p.Ile269Phe) c.*98A>T (n.*98A>T) n.549A>T c.*469A>T (n.*469A>T) n.308A>T c.460A>T (p.Ile154Phe) | |
| 15 | g.26580364T>C | CA7437396 | GABRB3 | c.637A>G (p.Ile213Val) n.680A>G c.320A>G c.382A>G (p.Ile128Val) c.538A>G (p.Ile180Val) c.424A>G (p.Ile142Val) c.805A>G (p.Ile269Val) c.*98A>G (n.*98A>G) n.549A>G c.*469A>G (n.*469A>G) n.308A>G c.460A>G (p.Ile154Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.26580364T>G | CA391463979 | GABRB3 | c.637A>C (p.Ile213Leu) n.680A>C c.320A>C c.382A>C (p.Ile128Leu) c.538A>C (p.Ile180Leu) c.424A>C (p.Ile142Leu) c.805A>C (p.Ile269Leu) c.*98A>C (n.*98A>C) n.549A>C c.*469A>C (n.*469A>C) n.308A>C c.460A>C (p.Ile154Leu) | |
| 15 | g.26580364T= | CA2165760515 | GABRB3 | c.637A= (p.Ile213=) n.680A= c.320A= c.382A= (p.Ile128=) c.538A= (p.Ile180=) c.424A= (p.Ile142=) c.805A= (p.Ile269=) c.*98A= (n.*98A=) n.549A= c.*469A= (n.*469A=) n.308A= c.460A= (p.Ile154=) |