Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.151829060T>A | CA361851935 | GLRA1 | c.920A>T (p.Tyr307Phe) c.*678A>T (n.*678A>T) c.671A>T (p.Tyr224Phe) | |
5 | g.151829060T>C | CA341363 | GLRA1 | c.920A>G (p.Tyr307Cys) c.*678A>G (n.*678A>G) c.671A>G (p.Tyr224Cys) | ClinVar dbSNP |
5 | g.151829060T>G | CA342962 | GLRA1 | c.920A>C (p.Tyr307Ser) c.*678A>C (n.*678A>C) c.671A>C (p.Tyr224Ser) | ClinVar dbSNP |
5 | g.151829060T= | CA1591568026 | GLRA1 | c.920A= (p.Tyr307=) c.*678A= (n.*678A=) c.671A= (p.Tyr224=) | |
5 | g.151829060_151829075delinsTAGGACACCTAGAGTG | CA1591568025 | GLRA1 | c.913-8_920delinsCACTCTAGGTGTCCTA c.*671-8_*678delinsCACTCTAGGTGTCCTA c.664-8_671delinsCACTCTAGGTGTCCTA | |
5 | g.151829061A>C | CA361851942 | GLRA1 | c.919T>G (p.Tyr307Asp) c.*677T>G (n.*677T>G) c.670T>G (p.Tyr224Asp) | |
5 | g.151829061A>G | CA361851948 | GLRA1 | c.919T>C (p.Tyr307His) c.*677T>C (n.*677T>C) c.670T>C (p.Tyr224His) | |
5 | g.151829061A>T | CA361851946 | GLRA1 | c.919T>A (p.Tyr307Asn) c.*677T>A (n.*677T>A) c.670T>A (p.Tyr224Asn) | |
5 | g.151829061_151829062delinsAG | CA1591568027 | GLRA1 | c.918_919delinsCT (p.Ser306=) c.*676_*677delinsCT (n.*676_*677delinsCT) c.669_670delinsCT (p.Ser223=) | |
5 | g.151829061_151829075del | CA3523568 | GLRA1 | c.913-8_919del c.*671-8_*677del c.664-8_670del | dbSNP ExAC gnomAD v2 |
5 | g.151829062G>A | CA447226806 | GLRA1 | c.918C>T (p.Ser306=) c.*676C>T (n.*676C>T) c.669C>T (p.Ser223=) | gnomAD v4 |
5 | g.151829062G>C | CA447226807 | GLRA1 | c.918C>G (p.Ser306=) c.*676C>G (n.*676C>G) c.669C>G (p.Ser223=) | |
5 | g.151829062G>T | CA447226808 | GLRA1 | c.918C>A (p.Ser306=) c.*676C>A (n.*676C>A) c.669C>A (p.Ser223=) | |
5 | g.151829063del | CA563633604 | GLRA1 | c.918del (p.Tyr307MetfsTer2) c.*676del (n.*676del) c.669del (p.Tyr224MetfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151829063G>A | CA361851952 | GLRA1 | c.917C>T (p.Ser306Phe) c.*675C>T (n.*675C>T) c.668C>T (p.Ser223Phe) | COSMIC |
5 | g.151829063G>C | CA361851954 | GLRA1 | c.917C>G (p.Ser306Cys) c.*675C>G (n.*675C>G) c.668C>G (p.Ser223Cys) | |
5 | g.151829063G>T | CA361851956 | GLRA1 | c.917C>A (p.Ser306Tyr) c.*675C>A (n.*675C>A) c.668C>A (p.Ser223Tyr) | ClinVar dbSNP |
5 | g.151829064A>C | CA361851965 | GLRA1 | c.916T>G (p.Ser306Ala) c.*674T>G (n.*674T>G) c.667T>G (p.Ser223Ala) | |
5 | g.151829064A>G | CA361851962 | GLRA1 | c.916T>C (p.Ser306Pro) c.*674T>C (n.*674T>C) c.667T>C (p.Ser223Pro) | |
5 | g.151829064A>T | CA361851960 | GLRA1 | c.916T>A (p.Ser306Thr) c.*674T>A (n.*674T>A) c.667T>A (p.Ser223Thr) | |
5 | g.151829065C>A | CA447226809 | GLRA1 | c.915G>T (p.Val305=) c.*673G>T (n.*673G>T) c.666G>T (p.Val222=) | |
5 | g.151829065C= | CA1591568028 | GLRA1 | c.915G= (p.Val305=) c.*673G= (n.*673G=) c.666G= (p.Val222=) | |
5 | g.151829065C>G | CA447226810 | GLRA1 | c.915G>C (p.Val305=) c.*673G>C (n.*673G>C) c.666G>C (p.Val222=) | |
5 | g.151829065C>T | CA3523569 | GLRA1 | c.915G>A (p.Val305=) c.*673G>A (n.*673G>A) c.666G>A (p.Val222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151829066A>C | CA361851976 | GLRA1 | c.914T>G (p.Val305Gly) c.*672T>G (n.*672T>G) c.665T>G (p.Val222Gly) | |
5 | g.151829066A>G | CA361851972 | GLRA1 | c.914T>C (p.Val305Ala) c.*672T>C (n.*672T>C) c.665T>C (p.Val222Ala) | |
5 | g.151829066A>T | CA361851974 | GLRA1 | c.914T>A (p.Val305Glu) c.*672T>A (n.*672T>A) c.665T>A (p.Val222Glu) | |
5 | g.151829067C>A | CA130010164 | GLRA1 | c.913G>T (p.Val305Leu) c.*671G>T (n.*671G>T) c.664G>T (p.Val222Leu) | dbSNP |
5 | g.151829067C= | CA1591568029 | GLRA1 | c.913G= (p.Val305=) c.*671G= (n.*671G=) c.664G= (p.Val222=) | |
5 | g.151829067C>G | CA361851981 | GLRA1 | c.913G>C (p.Val305Leu) c.*671G>C (n.*671G>C) c.664G>C (p.Val222Leu) | |
5 | g.151829067C>T | CA361851984 | GLRA1 | c.913G>A (p.Val305Met) c.*671G>A (n.*671G>A) c.664G>A (p.Val222Met) | |
5 | g.151829068C>A | CA361851987 | GLRA1 | c.913-1G>T (n.913-1G>T) c.*671-1G>T (n.*671-1G>T) c.664-1G>T (n.664-1G>T) | |
5 | g.151829068C= | CA1591568030 | GLRA1 | c.913-1G= (n.913-1G=) c.*671-1G= (n.*671-1G=) c.664-1G= (n.664-1G=) | |
5 | g.151829068C>G | CA361851988 | GLRA1 | c.913-1G>C (n.913-1G>C) c.*671-1G>C (n.*671-1G>C) c.664-1G>C (n.664-1G>C) | gnomAD v4 |
5 | g.151829068C>T | CA361851990 | GLRA1 | c.913-1G>A (n.913-1G>A) c.*671-1G>A (n.*671-1G>A) c.664-1G>A (n.664-1G>A) | ClinVar dbSNP gnomAD v4 |
5 | g.151829069T>A | CA361851993 | GLRA1 | c.913-2A>T (n.913-2A>T) c.*671-2A>T (n.*671-2A>T) c.664-2A>T (n.664-2A>T) | |
5 | g.151829069T>C | CA361851995 | GLRA1 | c.913-2A>G (n.913-2A>G) c.*671-2A>G (n.*671-2A>G) c.664-2A>G (n.664-2A>G) | |
5 | g.151829069T>G | CA361851997 | GLRA1 | c.913-2A>C (n.913-2A>C) c.*671-2A>C (n.*671-2A>C) c.664-2A>C (n.664-2A>C) | |
5 | g.151829070A= | CA1591568031 | GLRA1 | c.913-3T= (n.913-3T=) c.*671-3T= (n.*671-3T=) c.664-3T= (n.664-3T=) | |
5 | g.151829070A>G | CA1082972526 | GLRA1 | c.913-3T>C (n.913-3T>C) c.*671-3T>C (n.*671-3T>C) c.664-3T>C (n.664-3T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151829071G>T | CA2676108945 | GLRA1 | c.913-4C>A (n.913-4C>A) c.*671-4C>A (n.*671-4C>A) c.664-4C>A (n.664-4C>A) | gnomAD v4 |
5 | g.151829072A>G | CA2578460390 | GLRA1 | c.913-5T>C (n.913-5T>C) c.*671-5T>C (n.*671-5T>C) c.664-5T>C (n.664-5T>C) | gnomAD v4 |
5 | g.151829073G>A | CA805726704 | GLRA1 | c.913-6C>T (n.913-6C>T) c.*671-6C>T (n.*671-6C>T) c.664-6C>T (n.664-6C>T) | dbSNP gnomAD v4 |
5 | g.151829073G= | CA1591568032 | GLRA1 | c.913-6C= (n.913-6C=) c.*671-6C= (n.*671-6C=) c.664-6C= (n.664-6C=) | |
5 | g.151829073dup | CA2573139267 | GLRA1 | c.913-6dup (n.913-6dup) c.*671-6dup (n.*671-6dup) c.664-6dup (n.664-6dup) | ClinVar dbSNP |
5 | g.151829074del | CA2676108950 | GLRA1 | c.913-7del (n.913-7del) c.*671-7del (n.*671-7del) c.664-7del (n.664-7del) | gnomAD v4 |
5 | g.151829074T= | CA1591568033 | GLRA1 | c.913-7A= (n.913-7A=) c.*671-7A= (n.*671-7A=) c.664-7A= (n.664-7A=) | |
5 | g.151829074dup | CA2676108952 | GLRA1 | c.913-7dup (n.913-7dup) c.*671-7dup (n.*671-7dup) c.664-7dup (n.664-7dup) | gnomAD v4 |
5 | g.151829075G>A | CA563633607 | GLRA1 | c.913-8C>T (n.913-8C>T) c.*671-8C>T (n.*671-8C>T) c.664-8C>T (n.664-8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151829075G>C | CA3523571 | GLRA1 | c.913-8C>G (n.913-8C>G) c.*671-8C>G (n.*671-8C>G) c.664-8C>G (n.664-8C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |