Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1398968_1398982dup | CA9043617 | GAMT | c.507_521dup (p.Ser173_Trp174insCysAsnLeuThrSer) c.190_204dup n.340_354dup c.438_452dup (p.Ser150_Trp151insCysAsnLeuThrSer) c.192_206dup (p.Ser68_Trp69insCysAsnLeuThrSer) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398977_1398991del | CA2697555584 | GAMT | c.503_517del (p.Tyr168_Thr172del) c.186_200del n.336_350del c.434_448del (p.Tyr145_Thr149del) c.188_202del (p.Tyr63_Thr67del) | ClinVar |
19 | g.1398980C>A | CA402994521 | GAMT | c.506G>T (p.Cys169Phe) c.189G>T n.339G>T c.437G>T (p.Cys146Phe) c.191G>T (p.Cys64Phe) | |
19 | g.1398980C= | CA2317699019 | GAMT | c.506G= (p.Cys169=) c.189G= n.339G= c.437G= (p.Cys146=) c.191G= (p.Cys64=) | |
19 | g.1398980C>G | CA402994524 | GAMT | c.506G>C (p.Cys169Ser) c.189G>C n.339G>C c.437G>C (p.Cys146Ser) c.191G>C (p.Cys64Ser) | |
19 | g.1398980C>T | CA254379 | GAMT | c.506G>A (p.Cys169Tyr) c.189G>A n.339G>A c.437G>A (p.Cys146Tyr) c.191G>A (p.Cys64Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1398981A= | CA2317699020 | GAMT | c.505T= (p.Cys169=) c.188T= n.338T= c.436T= (p.Cys146=) c.190T= (p.Cys64=) | |
19 | g.1398981A>C | CA402994532 | GAMT | c.505T>G (p.Cys169Gly) c.188T>G n.338T>G c.436T>G (p.Cys146Gly) c.190T>G (p.Cys64Gly) | |
19 | g.1398981A>G | CA402994533 | GAMT | c.505T>C (p.Cys169Arg) c.188T>C n.338T>C c.436T>C (p.Cys146Arg) c.190T>C (p.Cys64Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.1398981A>T | CA402994534 | GAMT | c.505T>A (p.Cys169Ser) c.188T>A n.338T>A c.436T>A (p.Cys146Ser) c.190T>A (p.Cys64Ser) | |
19 | g.1398982G>A | CA504895137 | GAMT | c.504C>T (p.Tyr168=) c.187C>T n.337C>T c.435C>T (p.Tyr145=) c.189C>T (p.Tyr63=) | |
19 | g.1398982G>C | CA402994535 | GAMT | c.504C>G (p.Tyr168Ter) c.187C>G n.337C>G c.435C>G (p.Tyr145Ter) c.189C>G (p.Tyr63Ter) | ClinVar dbSNP |
19 | g.1398982G= | CA2317699021 | GAMT | c.504C= (p.Tyr168=) c.187C= n.337C= c.435C= (p.Tyr145=) c.189C= (p.Tyr63=) | |
19 | g.1398982G>T | CA402994536 | GAMT | c.504C>A (p.Tyr168Ter) c.187C>A n.337C>A c.435C>A (p.Tyr145Ter) c.189C>A (p.Tyr63Ter) | |
19 | g.1398983T>A | CA402994537 | GAMT | c.503A>T (p.Tyr168Phe) c.186A>T n.336A>T c.434A>T (p.Tyr145Phe) c.188A>T (p.Tyr63Phe) | gnomAD v4 |
19 | g.1398983T>C | CA402994538 | GAMT | c.503A>G (p.Tyr168Cys) c.186A>G n.336A>G c.434A>G (p.Tyr145Cys) c.188A>G (p.Tyr63Cys) | |
19 | g.1398983T>G | CA402994540 | GAMT | c.503A>C (p.Tyr168Ser) c.186A>C n.336A>C c.434A>C (p.Tyr145Ser) c.188A>C (p.Tyr63Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.1398983T= | CA2317699022 | GAMT | c.503A= (p.Tyr168=) c.186A= n.336A= c.434A= (p.Tyr145=) c.188A= (p.Tyr63=) | |
19 | g.1398984A>C | CA402994545 | GAMT | c.502T>G (p.Tyr168Asp) c.185T>G n.335T>G c.433T>G (p.Tyr145Asp) c.187T>G (p.Tyr63Asp) | |
19 | g.1398984A>G | CA402994548 | GAMT | c.502T>C (p.Tyr168His) c.185T>C n.335T>C c.433T>C (p.Tyr145His) c.187T>C (p.Tyr63His) | |
19 | g.1398984A>T | CA402994556 | GAMT | c.502T>A (p.Tyr168Asn) c.185T>A n.335T>A c.433T>A (p.Tyr145Asn) c.187T>A (p.Tyr63Asn) | |
19 | g.1398985G>A | CA504895140 | GAMT | c.501C>T (p.Thr167=) c.184C>T n.334C>T c.432C>T (p.Thr144=) c.186C>T (p.Thr62=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1398985G>C | CA504895141 | GAMT | c.501C>G (p.Thr167=) c.184C>G n.334C>G c.432C>G (p.Thr144=) c.186C>G (p.Thr62=) | |
19 | g.1398985G= | CA2317699023 | GAMT | c.501C= (p.Thr167=) c.184C= n.334C= c.432C= (p.Thr144=) c.186C= (p.Thr62=) | |
19 | g.1398985G>T | CA504895142 | GAMT | c.501C>A (p.Thr167=) c.184C>A n.334C>A c.432C>A (p.Thr144=) c.186C>A (p.Thr62=) | dbSNP |
19 | g.1398986G>A | CA304065967 | GAMT | c.500C>T (p.Thr167Ile) c.183C>T n.333C>T c.431C>T (p.Thr144Ile) c.185C>T (p.Thr62Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1398986G>C | CA9043624 | GAMT | c.500C>G (p.Thr167Ser) c.183C>G n.333C>G c.431C>G (p.Thr144Ser) c.185C>G (p.Thr62Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1398986G= | CA2317699024 | GAMT | c.500C= (p.Thr167=) c.183C= n.333C= c.431C= (p.Thr144=) c.185C= (p.Thr62=) | |
19 | g.1398986G>T | CA402994559 | GAMT | c.500C>A (p.Thr167Asn) c.183C>A n.333C>A c.431C>A (p.Thr144Asn) c.185C>A (p.Thr62Asn) | |
19 | g.1398987T>A | CA402994562 | GAMT | c.499A>T (p.Thr167Ser) c.182A>T n.332A>T c.430A>T (p.Thr144Ser) c.184A>T (p.Thr62Ser) | |
19 | g.1398987T>C | CA402994563 | GAMT | c.499A>G (p.Thr167Ala) c.182A>G n.332A>G c.430A>G (p.Thr144Ala) c.184A>G (p.Thr62Ala) | |
19 | g.1398987T>G | CA402994567 | GAMT | c.499A>C (p.Thr167Pro) c.182A>C n.332A>C c.430A>C (p.Thr144Pro) c.184A>C (p.Thr62Pro) | |
19 | g.1398987_1398990delinsTGAG | CA2317699025 | GAMT | c.496_499delinsCTCA (p.Leu166=) c.179_182delinsCTCA n.329_332delinsCTCA c.427_430delinsCTCA (p.Leu143=) c.181_184delinsCTCA (p.Leu61=) | |
19 | g.1398988G>A | CA504895145 | GAMT | c.498C>T (p.Leu166=) c.181C>T n.331C>T c.429C>T (p.Leu143=) c.183C>T (p.Leu61=) | |
19 | g.1398988G>C | CA504895146 | GAMT | c.498C>G (p.Leu166=) c.181C>G n.331C>G c.429C>G (p.Leu143=) c.183C>G (p.Leu61=) | gnomAD v4 |
19 | g.1398988G>T | CA504895147 | GAMT | c.498C>A (p.Leu166=) c.181C>A n.331C>A c.429C>A (p.Leu143=) c.183C>A (p.Leu61=) | gnomAD v4 COSMIC COSMIC |
19 | g.1398990_1398992del | CA2317699026 | GAMT | c.496_498del (p.Leu166del) c.179_181del n.329_331del c.427_429del (p.Leu143del) c.181_183del (p.Leu61del) | dbSNP |
19 | g.1398989A= | CA2317699027 | GAMT | c.497T= (p.Leu166=) c.180T= n.330T= c.428T= (p.Leu143=) c.182T= (p.Leu61=) | |
19 | g.1398989A>C | CA402994574 | GAMT | c.497T>G (p.Leu166Arg) c.180T>G n.330T>G c.428T>G (p.Leu143Arg) c.182T>G (p.Leu61Arg) | |
19 | g.1398989A>G | CA402994573 | GAMT | c.497T>C (p.Leu166Pro) c.180T>C n.330T>C c.428T>C (p.Leu143Pro) c.182T>C (p.Leu61Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1398989A>T | CA402994570 | GAMT | c.497T>A (p.Leu166His) c.180T>A n.330T>A c.428T>A (p.Leu143His) c.182T>A (p.Leu61His) | |
19 | g.1398990G>A | CA402994577 | GAMT | c.496C>T (p.Leu166Phe) c.179C>T n.329C>T c.427C>T (p.Leu143Phe) c.181C>T (p.Leu61Phe) | |
19 | g.1398990G>C | CA402994581 | GAMT | c.496C>G (p.Leu166Val) c.179C>G n.329C>G c.427C>G (p.Leu143Val) c.181C>G (p.Leu61Val) | |
19 | g.1398990G>T | CA402994580 | GAMT | c.496C>A (p.Leu166Ile) c.179C>A n.329C>A c.427C>A (p.Leu143Ile) c.181C>A (p.Leu61Ile) | |
19 | g.1398991G>A | CA504895150 | GAMT | c.495C>T (p.Val165=) c.178C>T n.328C>T c.426C>T (p.Val142=) c.180C>T (p.Val60=) | |
19 | g.1398991G>C | CA504895151 | GAMT | c.495C>G (p.Val165=) c.178C>G n.328C>G c.426C>G (p.Val142=) c.180C>G (p.Val60=) | |
19 | g.1398991G>T | CA504895153 | GAMT | c.495C>A (p.Val165=) c.178C>A n.328C>A c.426C>A (p.Val142=) c.180C>A (p.Val60=) | |
19 | g.1398992A>C | CA402994582 | GAMT | c.494T>G (p.Val165Gly) c.177T>G n.327T>G c.425T>G (p.Val142Gly) c.179T>G (p.Val60Gly) | |
19 | g.1398992A>G | CA402994584 | GAMT | c.494T>C (p.Val165Ala) c.177T>C n.327T>C c.425T>C (p.Val142Ala) c.179T>C (p.Val60Ala) | |
19 | g.1398992A>T | CA402994583 | GAMT | c.494T>A (p.Val165Asp) c.177T>A n.327T>A c.425T>A (p.Val142Asp) c.179T>A (p.Val60Asp) |