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.1398976_1398979del | CA2582641065 | GAMT | c.508_511del (p.Asn170SerfsTer7) c.191_194del n.341_344del c.439_442del (p.Asn147SerfsTer7) c.193_196del (p.Asn65SerfsTer7) | gnomAD v4 |
19 | g.1398979G>A | CA504895133 | GAMT | c.507C>T (p.Cys169=) c.190C>T n.340C>T c.438C>T (p.Cys146=) c.192C>T (p.Cys64=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1398979G>C | CA402994512 | GAMT | c.507C>G (p.Cys169Trp) c.190C>G n.340C>G c.438C>G (p.Cys146Trp) c.192C>G (p.Cys64Trp) | |
19 | g.1398979G= | CA2317699018 | GAMT | c.507C= (p.Cys169=) c.190C= n.340C= c.438C= (p.Cys146=) c.192C= (p.Cys64=) | |
19 | g.1398979G>T | CA402994514 | GAMT | c.507C>A (p.Cys169Ter) c.190C>A n.340C>A c.438C>A (p.Cys146Ter) c.192C>A (p.Cys64Ter) | |
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) | |
19 | g.1398993C>A | CA304065969 | GAMT | c.493G>T (p.Val165Phe) c.176G>T n.326G>T c.424G>T (p.Val142Phe) c.178G>T (p.Val60Phe) | dbSNP gnomAD v4 |
19 | g.1398993C= | CA2317699028 | GAMT | c.493G= (p.Val165=) c.176G= n.326G= c.424G= (p.Val142=) c.178G= (p.Val60=) | |
19 | g.1398993C>G | CA402994585 | GAMT | c.493G>C (p.Val165Leu) c.176G>C n.326G>C c.424G>C (p.Val142Leu) c.178G>C (p.Val60Leu) | |
19 | g.1398993C>T | CA9043625 | GAMT | c.493G>A (p.Val165Ile) c.176G>A n.326G>A c.424G>A (p.Val142Ile) c.178G>A (p.Val60Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398993dup | CA645614606 | GAMT | c.493dup (p.Val165GlyfsTer26) c.176dup n.326dup c.424dup (p.Val142GlyfsTer26) c.178dup (p.Val60GlyfsTer26) | COSMIC COSMIC |
19 | g.1398994G>A | CA504895157 | GAMT | c.492C>T (p.Gly164=) c.175C>T n.325C>T c.423C>T (p.Gly141=) c.177C>T (p.Gly59=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398994G>C | CA9043626 | GAMT | c.492C>G (p.Gly164=) c.175C>G n.325C>G c.423C>G (p.Gly141=) c.177C>G (p.Gly59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1398994G= | CA2317699029 | GAMT | c.492C= (p.Gly164=) c.175C= n.325C= c.423C= (p.Gly141=) c.177C= (p.Gly59=) | |
19 | g.1398994G>T | CA504895159 | GAMT | c.492C>A (p.Gly164=) c.175C>A n.325C>A c.423C>A (p.Gly141=) c.177C>A (p.Gly59=) | |
19 | g.1398994_1398995delinsGC | CA2317699030 | GAMT | c.491_492delinsGC (p.Gly164=) c.174_175delinsGC n.324_325delinsGC c.422_423delinsGC (p.Gly141=) c.176_177delinsGC (p.Gly59=) | |
19 | g.1398995C>A | CA402994587 | GAMT | c.491G>T (p.Gly164Val) c.174G>T n.324G>T c.422G>T (p.Gly141Val) c.176G>T (p.Gly59Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398995C= | CA2317699031 | GAMT | c.491G= (p.Gly164=) c.174G= n.324G= c.422G= (p.Gly141=) c.176G= (p.Gly59=) | |
19 | g.1398995C>G | CA402994588 | GAMT | c.491G>C (p.Gly164Ala) c.174G>C n.324G>C c.422G>C (p.Gly141Ala) c.176G>C (p.Gly59Ala) | |
19 | g.1398995C>T | CA314807 | GAMT | c.491G>A (p.Gly164Asp) c.174G>A n.324G>A c.422G>A (p.Gly141Asp) c.176G>A (p.Gly59Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399000dup | CA9043628 | GAMT | c.491dup (p.Val165ArgfsTer26) c.174dup n.324dup c.422dup (p.Val142ArgfsTer26) c.176dup (p.Val60ArgfsTer26) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1399000del | CA9043627 | GAMT | c.491del (p.Gly164AlafsTer14) c.174del n.324del c.422del (p.Gly141AlafsTer14) c.176del (p.Gly59AlafsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.1398995_1398996insG | CA504895160 | GAMT | c.490_491insC (p.Gly164AlafsTer27) c.173_174insC n.323_324insC c.421_422insC (p.Gly141AlafsTer27) c.175_176insC (p.Gly59AlafsTer27) | |
19 | g.1398996C>A | CA402994591 | GAMT | c.490G>T (p.Gly164Cys) c.173G>T n.323G>T c.421G>T (p.Gly141Cys) c.175G>T (p.Gly59Cys) | |
19 | g.1398996C>G | CA402994593 | GAMT | c.490G>C (p.Gly164Arg) c.173G>C n.323G>C c.421G>C (p.Gly141Arg) c.175G>C (p.Gly59Arg) | gnomAD v4 |
19 | g.1398996C>T | CA402994599 | GAMT | c.490G>A (p.Gly164Ser) c.173G>A n.323G>A c.421G>A (p.Gly141Ser) c.175G>A (p.Gly59Ser) | |
19 | g.1398997C>A | CA504895161 | GAMT | c.489G>T (p.Gly163=) c.172G>T n.322G>T c.420G>T (p.Gly140=) c.174G>T (p.Gly58=) | |
19 | g.1398997C>G | CA504895162 | GAMT | c.489G>C (p.Gly163=) c.172G>C n.322G>C c.420G>C (p.Gly140=) c.174G>C (p.Gly58=) | |
19 | g.1398997C>T | CA504895164 | GAMT | c.489G>A (p.Gly163=) c.172G>A n.322G>A c.420G>A (p.Gly140=) c.174G>A (p.Gly58=) | |
19 | g.1398998C>A | CA402994611 | GAMT | c.488G>T (p.Gly163Val) c.171G>T n.321G>T c.419G>T (p.Gly140Val) c.173G>T (p.Gly58Val) | |
19 | g.1398998C>G | CA402994602 | GAMT | c.488G>C (p.Gly163Ala) c.171G>C n.321G>C c.419G>C (p.Gly140Ala) c.173G>C (p.Gly58Ala) | |
19 | g.1398998C>T | CA402994607 | GAMT | c.488G>A (p.Gly163Glu) c.171G>A n.321G>A c.419G>A (p.Gly140Glu) c.173G>A (p.Gly58Glu) | gnomAD v4 COSMIC COSMIC |
19 | g.1398998_1398999insAC | CA913015583 | GAMT | c.488_489insTG (p.Val165AlafsTer14) c.171_172insTG n.321_322insTG c.419_420insTG (p.Val142AlafsTer14) c.173_174insTG (p.Val60AlafsTer14) | |
19 | g.1398999C>A | CA402994614 | GAMT | c.487G>T (p.Gly163Trp) c.170G>T n.320G>T c.418G>T (p.Gly140Trp) c.172G>T (p.Gly58Trp) | gnomAD v4 |
19 | g.1398999C>G | CA402994617 | GAMT | c.487G>C (p.Gly163Arg) c.170G>C n.320G>C c.418G>C (p.Gly140Arg) c.172G>C (p.Gly58Arg) | |
19 | g.1398999C>T | CA402994622 | GAMT | c.487G>A (p.Gly163Arg) c.170G>A n.320G>A c.418G>A (p.Gly140Arg) c.172G>A (p.Gly58Arg) | COSMIC COSMIC |
19 | g.1398999_1399001del | CA2576548647 | GAMT | c.485_487del (p.Pro162_Gly163delinsArg) c.168_170del n.318_320del c.416_418del (p.Pro139_Gly140delinsArg) c.170_172del (p.Pro57_Gly58delinsArg) | gnomAD v4 |
19 | g.1399000C>A | CA504895168 | GAMT | c.486G>T (p.Pro162=) c.169G>T n.319G>T c.417G>T (p.Pro139=) c.171G>T (p.Pro57=) | |
19 | g.1399000C= | CA2317699032 | GAMT | c.486G= (p.Pro162=) c.169G= n.319G= c.417G= (p.Pro139=) c.171G= (p.Pro57=) | |
19 | g.1399000C>G | CA9043630 | GAMT | c.486G>C (p.Pro162=) c.169G>C n.319G>C c.417G>C (p.Pro139=) c.171G>C (p.Pro57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399000C>T | CA9043629 | GAMT | c.486G>A (p.Pro162=) c.169G>A n.319G>A c.417G>A (p.Pro139=) c.171G>A (p.Pro57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399001G>A | CA9043631 | GAMT | c.485C>T (p.Pro162Leu) c.168C>T n.318C>T c.416C>T (p.Pro139Leu) c.170C>T (p.Pro57Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399001G>C | CA402994634 | GAMT | c.485C>G (p.Pro162Arg) c.168C>G n.318C>G c.416C>G (p.Pro139Arg) c.170C>G (p.Pro57Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399001G= | CA2317699033 | GAMT | c.485C= (p.Pro162=) c.168C= n.318C= c.416C= (p.Pro139=) c.170C= (p.Pro57=) | |
19 | g.1399001G>T | CA402994636 | GAMT | c.485C>A (p.Pro162Gln) c.168C>A n.318C>A c.416C>A (p.Pro139Gln) c.170C>A (p.Pro57Gln) | |
19 | g.1399002dup | CA2813256004 | GAMT | c.485dup (p.Val165ArgfsTer26) c.168dup n.318dup c.416dup (p.Val142ArgfsTer26) c.170dup (p.Val60ArgfsTer26) | |
19 | g.1399002G>A | CA402994640 | GAMT | c.484C>T (p.Pro162Ser) c.167C>T n.317C>T c.415C>T (p.Pro139Ser) c.169C>T (p.Pro57Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.1399002G>C | CA402994642 | GAMT | c.484C>G (p.Pro162Ala) c.167C>G n.317C>G c.415C>G (p.Pro139Ala) c.169C>G (p.Pro57Ala) | |
19 | g.1399002G= | CA2317699034 | GAMT | c.484C= (p.Pro162=) c.167C= n.317C= c.415C= (p.Pro139=) c.169C= (p.Pro57=) | |
19 | g.1399002G>T | CA402994644 | GAMT | c.484C>A (p.Pro162Thr) c.167C>A n.317C>A c.415C>A (p.Pro139Thr) c.169C>A (p.Pro57Thr) | |
19 | g.1399003C>A | CA402994646 | GAMT | c.483G>T (p.Lys161Asn) c.166G>T n.316G>T c.414G>T (p.Lys138Asn) c.168G>T (p.Lys56Asn) | |
19 | g.1399003C>G | CA402994650 | GAMT | c.483G>C (p.Lys161Asn) c.166G>C n.316G>C c.414G>C (p.Lys138Asn) c.168G>C (p.Lys56Asn) | |
19 | g.1399003C>T | CA504895173 | GAMT | c.483G>A (p.Lys161=) c.166G>A n.316G>A c.414G>A (p.Lys138=) c.168G>A (p.Lys56=) | gnomAD v4 |
19 | g.1399004T>A | CA402994656 | GAMT | c.482A>T (p.Lys161Met) c.165A>T n.315A>T c.413A>T (p.Lys138Met) c.167A>T (p.Lys56Met) | |
19 | g.1399004T>C | CA402994659 | GAMT | c.482A>G (p.Lys161Arg) c.165A>G n.315A>G c.413A>G (p.Lys138Arg) c.167A>G (p.Lys56Arg) | |
19 | g.1399004T>G | CA402994660 | GAMT | c.482A>C (p.Lys161Thr) c.165A>C n.315A>C c.413A>C (p.Lys138Thr) c.167A>C (p.Lys56Thr) | |
19 | g.1399005T>A | CA16608969 | GAMT | c.481A>T (p.Lys161Ter) c.164A>T n.314A>T c.412A>T (p.Lys138Ter) c.166A>T (p.Lys56Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399005T>C | CA402994662 | GAMT | c.481A>G (p.Lys161Glu) c.164A>G n.314A>G c.412A>G (p.Lys138Glu) c.166A>G (p.Lys56Glu) | |
19 | g.1399005T>G | CA402994665 | GAMT | c.481A>C (p.Lys161Gln) c.164A>C n.314A>C c.412A>C (p.Lys138Gln) c.166A>C (p.Lys56Gln) | |
19 | g.1399005T= | CA2317699035 | GAMT | c.481A= (p.Lys161=) c.164A= n.314A= c.412A= (p.Lys138=) c.166A= (p.Lys56=) | |
19 | g.1399006C>A | CA504895176 | GAMT | c.480G>T (p.Leu160=) c.163G>T n.313G>T c.411G>T (p.Leu137=) c.165G>T (p.Leu55=) | |
19 | g.1399006C= | CA2317699036 | GAMT | c.480G= (p.Leu160=) c.163G= n.313G= c.411G= (p.Leu137=) c.165G= (p.Leu55=) | |
19 | g.1399006C>G | CA504895177 | GAMT | c.480G>C (p.Leu160=) c.163G>C n.313G>C c.411G>C (p.Leu137=) c.165G>C (p.Leu55=) | |
19 | g.1399006C>T | CA504895179 | GAMT | c.480G>A (p.Leu160=) c.163G>A n.313G>A c.411G>A (p.Leu137=) c.165G>A (p.Leu55=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399007A>C | CA402994675 | GAMT | c.479T>G (p.Leu160Arg) c.162T>G n.312T>G c.410T>G (p.Leu137Arg) c.164T>G (p.Leu55Arg) | ClinVar gnomAD v4 |
19 | g.1399007A>G | CA402994669 | GAMT | c.479T>C (p.Leu160Pro) c.162T>C n.312T>C c.410T>C (p.Leu137Pro) c.164T>C (p.Leu55Pro) | |
19 | g.1399007A>T | CA402994673 | GAMT | c.479T>A (p.Leu160Gln) c.162T>A n.312T>A c.410T>A (p.Leu137Gln) c.164T>A (p.Leu55Gln) | |
19 | g.1399008G>A | CA504895181 | GAMT | c.478C>T (p.Leu160=) c.161C>T n.311C>T c.409C>T (p.Leu137=) c.163C>T (p.Leu55=) | |
19 | g.1399008G>C | CA402994678 | GAMT | c.478C>G (p.Leu160Val) c.161C>G n.311C>G c.409C>G (p.Leu137Val) c.163C>G (p.Leu55Val) | |
19 | g.1399008G>T | CA402994680 | GAMT | c.478C>A (p.Leu160Met) c.161C>A n.311C>A c.409C>A (p.Leu137Met) c.163C>A (p.Leu55Met) | gnomAD v4 |
19 | g.1399009C>A | CA504895183 | GAMT | c.477G>T (p.Leu159=) c.160G>T n.310G>T c.408G>T (p.Leu136=) c.162G>T (p.Leu54=) | |
19 | g.1399009C>G | CA504895184 | GAMT | c.477G>C (p.Leu159=) c.160G>C n.310G>C c.408G>C (p.Leu136=) c.162G>C (p.Leu54=) | gnomAD v4 |
19 | g.1399009C>T | CA504895186 | GAMT | c.477G>A (p.Leu159=) c.160G>A n.310G>A c.408G>A (p.Leu136=) c.162G>A (p.Leu54=) | gnomAD v4 |
19 | g.1399010A>C | CA402994684 | GAMT | c.476T>G (p.Leu159Arg) c.159T>G n.309T>G c.407T>G (p.Leu136Arg) c.161T>G (p.Leu54Arg) | |
19 | g.1399010A>G | CA402994686 | GAMT | c.476T>C (p.Leu159Pro) c.159T>C n.309T>C c.407T>C (p.Leu136Pro) c.161T>C (p.Leu54Pro) | ClinVar dbSNP |
19 | g.1399010A>T | CA402994687 | GAMT | c.476T>A (p.Leu159Gln) c.159T>A n.309T>A c.407T>A (p.Leu136Gln) c.161T>A (p.Leu54Gln) | |
19 | g.1399015_1399021del | CA2573155788 | GAMT | c.470_476del (p.Phe157CysfsTer2) c.153_159del n.303_309del c.401_407del (p.Phe134CysfsTer2) c.155_161del (p.Phe52CysfsTer2) | ClinVar dbSNP |
19 | g.1399011G>A | CA9043632 | GAMT | c.475C>T (p.Leu159=) c.158C>T n.308C>T c.406C>T (p.Leu136=) c.160C>T (p.Leu54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399011G>C | CA402994695 | GAMT | c.475C>G (p.Leu159Val) c.158C>G n.308C>G c.406C>G (p.Leu136Val) c.160C>G (p.Leu54Val) | |
19 | g.1399011G= | CA2317699037 | GAMT | c.475C= (p.Leu159=) c.158C= n.308C= c.406C= (p.Leu136=) c.160C= (p.Leu54=) | |
19 | g.1399011G>T | CA402994691 | GAMT | c.475C>A (p.Leu159Met) c.158C>A n.308C>A c.406C>A (p.Leu136Met) c.160C>A (p.Leu54Met) | |
19 | g.1399012del | CA2580096066 | GAMT | c.475del (p.Leu159CysfsTer2) c.158del n.308del c.406del (p.Leu136CysfsTer2) c.160del (p.Leu54CysfsTer2) | ClinVar |
19 | g.1399012G>A | CA504895192 | GAMT | c.474C>T (p.Arg158=) c.157C>T n.307C>T c.405C>T (p.Arg135=) c.159C>T (p.Arg53=) | |
19 | g.1399012G>C | CA504895194 | GAMT | c.474C>G (p.Arg158=) c.157C>G n.307C>G c.405C>G (p.Arg135=) c.159C>G (p.Arg53=) | |
19 | g.1399012G>T | CA504895193 | GAMT | c.474C>A (p.Arg158=) c.157C>A n.307C>A c.405C>A (p.Arg135=) c.159C>A (p.Arg53=) | |
19 | g.1399013C>A | CA402994704 | GAMT | c.473G>T (p.Arg158Leu) c.156G>T n.306G>T c.404G>T (p.Arg135Leu) c.158G>T (p.Arg53Leu) | |
19 | g.1399013C= | CA2317699038 | GAMT | c.473G= (p.Arg158=) c.156G= n.306G= c.404G= (p.Arg135=) c.158G= (p.Arg53=) | |
19 | g.1399013C>G | CA402994707 | GAMT | c.473G>C (p.Arg158Pro) c.156G>C n.306G>C c.404G>C (p.Arg135Pro) c.158G>C (p.Arg53Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399013C>T | CA9043633 | GAMT | c.473G>A (p.Arg158His) c.156G>A n.306G>A c.404G>A (p.Arg135His) c.158G>A (p.Arg53His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1399014G>A | CA9043634 | GAMT | c.472C>T (p.Arg158Cys) c.155C>T n.305C>T c.403C>T (p.Arg135Cys) c.157C>T (p.Arg53Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399014G>C | CA402994712 | GAMT | c.472C>G (p.Arg158Gly) c.155C>G n.305C>G c.403C>G (p.Arg135Gly) c.157C>G (p.Arg53Gly) | |
19 | g.1399014G= | CA2317699039 | GAMT | c.472C= (p.Arg158=) c.155C= n.305C= c.403C= (p.Arg135=) c.157C= (p.Arg53=) | |
19 | g.1399014G>T | CA402994713 | GAMT | c.472C>A (p.Arg158Ser) c.155C>A n.305C>A c.403C>A (p.Arg135Ser) c.157C>A (p.Arg53Ser) | |
19 | g.1399015A= | CA2317699040 | GAMT | c.471T= (p.Phe157=) c.154T= n.304T= c.402T= (p.Phe134=) c.156T= (p.Phe52=) | |
19 | g.1399015A>C | CA9043635 | GAMT | c.471T>G (p.Phe157Leu) c.154T>G n.304T>G c.402T>G (p.Phe134Leu) c.156T>G (p.Phe52Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399015A>G | CA504895199 | GAMT | c.471T>C (p.Phe157=) c.154T>C n.304T>C c.402T>C (p.Phe134=) c.156T>C (p.Phe52=) | |
19 | g.1399015A>T | CA402994714 | GAMT | c.471T>A (p.Phe157Leu) c.154T>A n.304T>A c.402T>A (p.Phe134Leu) c.156T>A (p.Phe52Leu) | |
19 | g.1399016A= | CA2317699041 | GAMT | c.470T= (p.Phe157=) c.153T= n.303T= c.401T= (p.Phe134=) c.155T= (p.Phe52=) | |
19 | g.1399016A>C | CA9043636 | GAMT | c.470T>G (p.Phe157Cys) c.153T>G n.303T>G c.401T>G (p.Phe134Cys) c.155T>G (p.Phe52Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399016A>G | CA402994716 | GAMT | c.470T>C (p.Phe157Ser) c.153T>C n.303T>C c.401T>C (p.Phe134Ser) c.155T>C (p.Phe52Ser) | |
19 | g.1399016A>T | CA402994717 | GAMT | c.470T>A (p.Phe157Tyr) c.153T>A n.303T>A c.401T>A (p.Phe134Tyr) c.155T>A (p.Phe52Tyr) | |
19 | g.1399017A= | CA2317699042 | GAMT | c.469T= (p.Phe157=) c.152T= n.302T= c.400T= (p.Phe134=) c.154T= (p.Phe52=) | |
19 | g.1399017A>C | CA402994733 | GAMT | c.469T>G (p.Phe157Val) c.152T>G n.302T>G c.400T>G (p.Phe134Val) c.154T>G (p.Phe52Val) | |
19 | g.1399017A>G | CA402994732 | GAMT | c.469T>C (p.Phe157Leu) c.152T>C n.302T>C c.400T>C (p.Phe134Leu) c.154T>C (p.Phe52Leu) | dbSNP |
19 | g.1399017A>T | CA402994731 | GAMT | c.469T>A (p.Phe157Ile) c.152T>A n.302T>A c.400T>A (p.Phe134Ile) c.154T>A (p.Phe52Ile) | |
19 | g.1399018G>A | CA504895202 | GAMT | c.468C>T (p.Ala156=) c.151C>T n.301C>T c.399C>T (p.Ala133=) c.153C>T (p.Ala51=) | |
19 | g.1399018G>C | CA504895204 | GAMT | c.468C>G (p.Ala156=) c.151C>G n.301C>G c.399C>G (p.Ala133=) c.153C>G (p.Ala51=) | |
19 | g.1399018G>T | CA504895205 | GAMT | c.468C>A (p.Ala156=) c.151C>A n.301C>A c.399C>A (p.Ala133=) c.153C>A (p.Ala51=) | COSMIC |
19 | g.1399019del | CA2582641066 | GAMT | c.468del (p.Arg158AlafsTer3) c.151del n.301del c.399del (p.Arg135AlafsTer3) c.153del (p.Arg53AlafsTer3) | gnomAD v4 |
19 | g.1399019G>A | CA402994736 | GAMT | c.467C>T (p.Ala156Val) c.150C>T n.300C>T c.398C>T (p.Ala133Val) c.152C>T (p.Ala51Val) | |
19 | g.1399019G>C | CA402994734 | GAMT | c.467C>G (p.Ala156Gly) c.150C>G n.300C>G c.398C>G (p.Ala133Gly) c.152C>G (p.Ala51Gly) | gnomAD v4 |
19 | g.1399019G= | CA2317699043 | GAMT | c.467C= (p.Ala156=) c.150C= n.300C= c.398C= (p.Ala133=) c.152C= (p.Ala51=) | |
19 | g.1399019G>T | CA9043637 | GAMT | c.467C>A (p.Ala156Asp) c.150C>A n.300C>A c.398C>A (p.Ala133Asp) c.152C>A (p.Ala51Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1399020C>A | CA402994741 | GAMT | c.466G>T (p.Ala156Ser) c.149G>T n.299G>T c.397G>T (p.Ala133Ser) c.151G>T (p.Ala51Ser) | |
19 | g.1399020C= | CA2317699044 | GAMT | c.466G= (p.Ala156=) c.149G= n.299G= c.397G= (p.Ala133=) c.151G= (p.Ala51=) | |
19 | g.1399020C>G | CA402994745 | GAMT | c.466G>C (p.Ala156Pro) c.149G>C n.299G>C c.397G>C (p.Ala133Pro) c.151G>C (p.Ala51Pro) | |
19 | g.1399020C>T | CA9043638 | GAMT | c.466G>A (p.Ala156Thr) c.149G>A n.299G>A c.397G>A (p.Ala133Thr) c.151G>A (p.Ala51Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1399021G>A | CA504895207 | GAMT | c.465C>T (p.His155=) c.148C>T n.298C>T c.396C>T (p.His132=) c.150C>T (p.His50=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1399021G>C | CA402994752 | GAMT | c.465C>G (p.His155Gln) c.148C>G n.298C>G c.396C>G (p.His132Gln) c.150C>G (p.His50Gln) | |
19 | g.1399021G= | CA2317699045 | GAMT | c.465C= (p.His155=) c.148C= n.298C= c.396C= (p.His132=) c.150C= (p.His50=) | |
19 | g.1399021G>T | CA402994753 | GAMT | c.465C>A (p.His155Gln) c.148C>A n.298C>A c.396C>A (p.His132Gln) c.150C>A (p.His50Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399022T>A | CA402994766 | GAMT | c.464A>T (p.His155Leu) c.147A>T n.297A>T c.395A>T (p.His132Leu) c.149A>T (p.His50Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399022T>C | CA402994764 | GAMT | c.464A>G (p.His155Arg) c.147A>G n.297A>G c.395A>G (p.His132Arg) c.149A>G (p.His50Arg) | |
19 | g.1399022T>G | CA402994757 | GAMT | c.464A>C (p.His155Pro) c.147A>C n.297A>C c.395A>C (p.His132Pro) c.149A>C (p.His50Pro) | |
19 | g.1399022T= | CA2317699046 | GAMT | c.464A= (p.His155=) c.147A= n.297A= c.395A= (p.His132=) c.149A= (p.His50=) | |
19 | g.1399023G>A | CA402994767 | GAMT | c.463C>T (p.His155Tyr) c.146C>T n.296C>T c.394C>T (p.His132Tyr) c.148C>T (p.His50Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399023G>C | CA402994771 | GAMT | c.463C>G (p.His155Asp) c.146C>G n.296C>G c.394C>G (p.His132Asp) c.148C>G (p.His50Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399023G= | CA2317699047 | GAMT | c.463C= (p.His155=) c.146C= n.296C= c.394C= (p.His132=) c.148C= (p.His50=) | |
19 | g.1399023G>T | CA402994776 | GAMT | c.463C>A (p.His155Asn) c.146C>A n.296C>A c.394C>A (p.His132Asn) c.148C>A (p.His50Asn) | |
19 | g.1399024G>A | CA9043639 | GAMT | c.462C>T (p.Asn154=) c.145C>T n.295C>T c.393C>T (p.Asn131=) c.147C>T (p.Asn49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399024G>C | CA402994784 | GAMT | c.462C>G (p.Asn154Lys) c.145C>G n.295C>G c.393C>G (p.Asn131Lys) c.147C>G (p.Asn49Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399024G= | CA2317699048 | GAMT | c.462C= (p.Asn154=) c.145C= n.295C= c.393C= (p.Asn131=) c.147C= (p.Asn49=) | |
19 | g.1399024G>T | CA402994785 | GAMT | c.462C>A (p.Asn154Lys) c.145C>A n.295C>A c.393C>A (p.Asn131Lys) c.147C>A (p.Asn49Lys) | gnomAD v4 |
19 | g.1399025T>A | CA402994786 | GAMT | c.461A>T (p.Asn154Ile) c.144A>T n.294A>T c.392A>T (p.Asn131Ile) c.146A>T (p.Asn49Ile) | |
19 | g.1399025T>C | CA402994790 | GAMT | c.461A>G (p.Asn154Ser) c.144A>G n.294A>G c.392A>G (p.Asn131Ser) c.146A>G (p.Asn49Ser) | |
19 | g.1399025T>G | CA402994787 | GAMT | c.461A>C (p.Asn154Thr) c.144A>C n.294A>C c.392A>C (p.Asn131Thr) c.146A>C (p.Asn49Thr) | |
19 | g.1399026T>A | CA402994792 | GAMT | c.460A>T (p.Asn154Tyr) c.143A>T n.293A>T c.391A>T (p.Asn131Tyr) c.145A>T (p.Asn49Tyr) | |
19 | g.1399026T>C | CA402994795 | GAMT | c.460A>G (p.Asn154Asp) c.143A>G n.293A>G c.391A>G (p.Asn131Asp) c.145A>G (p.Asn49Asp) | |
19 | g.1399026T>G | CA402994796 | GAMT | c.460A>C (p.Asn154His) c.143A>C n.293A>C c.391A>C (p.Asn131His) c.145A>C (p.Asn49His) | |
19 | g.1399027C>A | CA402994797 | GAMT | c.460-1G>T (n.460-1G>T) c.143-1G>T n.293-1G>T c.391-1G>T (n.391-1G>T) c.145-1G>T (n.145-1G>T) | |
19 | g.1399027C>G | CA402994798 | GAMT | c.460-1G>C (n.460-1G>C) c.143-1G>C n.293-1G>C c.391-1G>C (n.391-1G>C) c.145-1G>C (n.145-1G>C) | |
19 | g.1399027C>T | CA402994799 | GAMT | c.460-1G>A (n.460-1G>A) c.143-1G>A n.293-1G>A c.391-1G>A (n.391-1G>A) c.145-1G>A (n.145-1G>A) | |
19 | g.1399028T>A | CA402994800 | GAMT | c.460-2A>T (n.460-2A>T) c.143-2A>T n.293-2A>T c.391-2A>T (n.391-2A>T) c.145-2A>T (n.145-2A>T) | |
19 | g.1399028T>C | CA402994801 | GAMT | c.460-2A>G (n.460-2A>G) c.143-2A>G n.293-2A>G c.391-2A>G (n.391-2A>G) c.145-2A>G (n.145-2A>G) | |
19 | g.1399028T>G | CA402994802 | GAMT | c.460-2A>C (n.460-2A>C) c.143-2A>C n.293-2A>C c.391-2A>C (n.391-2A>C) c.145-2A>C (n.145-2A>C) | |
19 | g.1399029G>A | CA783446073 | GAMT | c.460-3C>T (n.460-3C>T) c.143-3C>T n.293-3C>T c.391-3C>T (n.391-3C>T) c.145-3C>T (n.145-3C>T) | ClinVar dbSNP |
19 | g.1399029G= | CA2317699049 | GAMT | c.460-3C= (n.460-3C=) c.143-3C= n.293-3C= c.391-3C= (n.391-3C=) c.145-3C= (n.145-3C=) | |
19 | g.1399029G>T | CA304065996 | GAMT | c.460-3C>A (n.460-3C>A) c.143-3C>A n.293-3C>A c.391-3C>A (n.391-3C>A) c.145-3C>A (n.145-3C>A) | dbSNP |
19 | g.1399031G>A | CA9043640 | GAMT | c.460-5C>T (n.460-5C>T) c.143-5C>T n.293-5C>T c.391-5C>T (n.391-5C>T) c.145-5C>T (n.145-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399031G= | CA2317699050 | GAMT | c.460-5C= (n.460-5C=) c.143-5C= n.293-5C= c.391-5C= (n.391-5C=) c.145-5C= (n.145-5C=) | |
19 | g.1399032G>A | CA9043641 | GAMT | c.460-6C>T (n.460-6C>T) c.143-6C>T n.293-6C>T c.391-6C>T (n.391-6C>T) c.145-6C>T (n.145-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399032G= | CA2317699051 | GAMT | c.460-6C= (n.460-6C=) c.143-6C= n.293-6C= c.391-6C= (n.391-6C=) c.145-6C= (n.145-6C=) | |
19 | g.1399033A= | CA2317699052 | GAMT | c.460-7T= (n.460-7T=) c.143-7T= n.293-7T= c.391-7T= (n.391-7T=) c.145-7T= (n.145-7T=) | |
19 | g.1399033A>C | CA783446080 | GAMT | c.460-7T>G (n.460-7T>G) c.143-7T>G n.293-7T>G c.391-7T>G (n.391-7T>G) c.145-7T>G (n.145-7T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399035G>A | CA16608184 | GAMT | c.460-9C>T (n.460-9C>T) c.143-9C>T n.293-9C>T c.391-9C>T (n.391-9C>T) c.145-9C>T (n.145-9C>T) | ClinVar dbSNP |
19 | g.1399035G>C | CA2573155789 | GAMT | c.460-9C>G (n.460-9C>G) c.143-9C>G n.293-9C>G c.391-9C>G (n.391-9C>G) c.145-9C>G (n.145-9C>G) | ClinVar dbSNP |
19 | g.1399035G= | CA2317699053 | GAMT | c.460-9C= (n.460-9C=) c.143-9C= n.293-9C= c.391-9C= (n.391-9C=) c.145-9C= (n.145-9C=) | |
19 | g.1399036G>A | CA2317699055 | GAMT | c.460-10C>T (n.460-10C>T) c.143-10C>T n.293-10C>T c.391-10C>T (n.391-10C>T) c.145-10C>T (n.145-10C>T) | dbSNP |
19 | g.1399036G= | CA2317699054 | GAMT | c.460-10C= (n.460-10C=) c.143-10C= n.293-10C= c.391-10C= (n.391-10C=) c.145-10C= (n.145-10C=) | |
19 | g.1399036G>T | CA2582641067 | GAMT | c.460-10C>A (n.460-10C>A) c.143-10C>A n.293-10C>A c.391-10C>A (n.391-10C>A) c.145-10C>A (n.145-10C>A) | gnomAD v4 |
19 | g.1399037G>A | CA2576548648 | GAMT | c.460-11C>T (n.460-11C>T) c.143-11C>T n.293-11C>T c.391-11C>T (n.391-11C>T) c.145-11C>T (n.145-11C>T) | gnomAD v4 |
19 | g.1399038G>C | CA9043642 | GAMT | c.460-12C>G (n.460-12C>G) c.143-12C>G n.293-12C>G c.391-12C>G (n.391-12C>G) c.145-12C>G (n.145-12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399038G= | CA2317699056 | GAMT | c.460-12C= (n.460-12C=) c.143-12C= n.293-12C= c.391-12C= (n.391-12C=) c.145-12C= (n.145-12C=) | |
19 | g.1399039A>G | CA2582641068 | GAMT | c.460-13T>C (n.460-13T>C) c.143-13T>C n.293-13T>C c.391-13T>C (n.391-13T>C) c.145-13T>C (n.145-13T>C) | gnomAD v4 |
19 | g.1399041T>A | CA2582641069 | GAMT | c.460-15A>T (n.460-15A>T) c.143-15A>T n.293-15A>T c.391-15A>T (n.391-15A>T) c.145-15A>T (n.145-15A>T) | gnomAD v4 |
19 | g.1399041T>C | CA2317699058 | GAMT | c.460-15A>G (n.460-15A>G) c.143-15A>G n.293-15A>G c.391-15A>G (n.391-15A>G) c.145-15A>G (n.145-15A>G) | ClinVar dbSNP |
19 | g.1399041T>G | CA2582641070 | GAMT | c.460-15A>C (n.460-15A>C) c.143-15A>C n.293-15A>C c.391-15A>C (n.391-15A>C) c.145-15A>C (n.145-15A>C) | gnomAD v4 |
19 | g.1399041T= | CA2317699057 | GAMT | c.460-15A= (n.460-15A=) c.143-15A= n.293-15A= c.391-15A= (n.391-15A=) c.145-15A= (n.145-15A=) | |
19 | g.1399044C= | CA2317699059 | GAMT | c.460-18G= (n.460-18G=) c.143-18G= n.293-18G= c.391-18G= (n.391-18G=) c.145-18G= (n.145-18G=) | |
19 | g.1399044C>G | CA2317699060 | GAMT | c.460-18G>C (n.460-18G>C) c.143-18G>C n.293-18G>C c.391-18G>C (n.391-18G>C) c.145-18G>C (n.145-18G>C) | dbSNP |
19 | g.1399046A= | CA2317699061 | GAMT | c.460-20T= (n.460-20T=) c.143-20T= n.293-20T= c.391-20T= (n.391-20T=) c.145-20T= (n.145-20T=) | |
19 | g.1399046A>G | CA2317699062 | GAMT | c.460-20T>C (n.460-20T>C) c.143-20T>C n.293-20T>C c.391-20T>C (n.391-20T>C) c.145-20T>C (n.145-20T>C) | dbSNP gnomAD v4 |
19 | g.1399047G>A | CA631300631 | GAMT | c.460-21C>T (n.460-21C>T) c.143-21C>T n.293-21C>T c.391-21C>T (n.391-21C>T) c.145-21C>T (n.145-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399047G>C | CA2576548649 | GAMT | c.460-21C>G (n.460-21C>G) c.143-21C>G n.293-21C>G c.391-21C>G (n.391-21C>G) c.145-21C>G (n.145-21C>G) | |
19 | g.1399047G= | CA2317699063 | GAMT | c.460-21C= (n.460-21C=) c.143-21C= n.293-21C= c.391-21C= (n.391-21C=) c.145-21C= (n.145-21C=) | |
19 | g.1399048T>C | CA9043643 | GAMT | c.460-22A>G (n.460-22A>G) c.143-22A>G n.293-22A>G c.391-22A>G (n.391-22A>G) c.145-22A>G (n.145-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399048T= | CA2317699064 | GAMT | c.460-22A= (n.460-22A=) c.143-22A= n.293-22A= c.391-22A= (n.391-22A=) c.145-22A= (n.145-22A=) | |
19 | g.1399049G>T | CA2576548650 | GAMT | c.460-23C>A (n.460-23C>A) c.143-23C>A n.293-23C>A c.391-23C>A (n.391-23C>A) c.145-23C>A (n.145-23C>A) | |
19 | g.1399050G>A | CA2582641071 | GAMT | c.460-24C>T (n.460-24C>T) c.143-24C>T n.293-24C>T c.391-24C>T (n.391-24C>T) c.145-24C>T (n.145-24C>T) | gnomAD v4 |
19 | g.1399053A>C | CA2576548651 | GAMT | c.460-27T>G (n.460-27T>G) c.143-27T>G n.293-27T>G c.391-27T>G (n.391-27T>G) c.145-27T>G (n.145-27T>G) | |
19 | g.1399054G>A | CA992513661 | GAMT | c.460-28C>T (n.460-28C>T) c.143-28C>T n.293-28C>T c.391-28C>T (n.391-28C>T) c.145-28C>T (n.145-28C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399054G>C | CA2582641073 | GAMT | c.460-28C>G (n.460-28C>G) c.143-28C>G n.293-28C>G c.391-28C>G (n.391-28C>G) c.145-28C>G (n.145-28C>G) | gnomAD v4 |
19 | g.1399054G= | CA2317699065 | GAMT | c.460-28C= (n.460-28C=) c.143-28C= n.293-28C= c.391-28C= (n.391-28C=) c.145-28C= (n.145-28C=) | |
19 | g.1399056_1399073dup | CA2582641072 | GAMT | c.460-45_460-28dup (n.460-45_460-28dup) c.143-45_143-28dup n.293-45_293-28dup c.391-45_391-28dup (n.391-45_391-28dup) c.145-45_145-28dup (n.145-45_145-28dup) | gnomAD v4 |
19 | g.1399055G>A | CA2582641075 | GAMT | c.460-29C>T (n.460-29C>T) c.143-29C>T n.293-29C>T c.391-29C>T (n.391-29C>T) c.145-29C>T (n.145-29C>T) | gnomAD v4 |
19 | g.1399055_1399056dup | CA2582641074 | GAMT | c.460-30_460-29dup (n.460-30_460-29dup) c.143-30_143-29dup n.293-30_293-29dup c.391-30_391-29dup (n.391-30_391-29dup) c.145-30_145-29dup (n.145-30_145-29dup) | gnomAD v4 |
19 | g.1399057del | CA2582641076 | GAMT | c.460-31del (n.460-31del) c.143-31del n.293-31del c.391-31del (n.391-31del) c.145-31del (n.145-31del) | gnomAD v4 |
19 | g.1399057C>A | CA2581361849 | GAMT | c.460-31G>T (n.460-31G>T) c.143-31G>T n.293-31G>T c.391-31G>T (n.391-31G>T) c.145-31G>T (n.145-31G>T) | |
19 | g.1399057C= | CA2317699066 | GAMT | c.460-31G= (n.460-31G=) c.143-31G= n.293-31G= c.391-31G= (n.391-31G=) c.145-31G= (n.145-31G=) | |
19 | g.1399057C>G | CA2581361850 | GAMT | c.460-31G>C (n.460-31G>C) c.143-31G>C n.293-31G>C c.391-31G>C (n.391-31G>C) c.145-31G>C (n.145-31G>C) | |
19 | g.1399057C>T | CA341574 | GAMT | c.460-31G>A (n.460-31G>A) c.143-31G>A n.293-31G>A c.391-31G>A (n.391-31G>A) c.145-31G>A (n.145-31G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399058G>A | CA9043644 | GAMT | c.460-32C>T (n.460-32C>T) c.143-32C>T n.293-32C>T c.391-32C>T (n.391-32C>T) c.145-32C>T (n.145-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399058G>C | CA2503927864 | GAMT | c.460-32C>G (n.460-32C>G) c.143-32C>G n.293-32C>G c.391-32C>G (n.391-32C>G) c.145-32C>G (n.145-32C>G) | |
19 | g.1399058G= | CA2317699067 | GAMT | c.460-32C= (n.460-32C=) c.143-32C= n.293-32C= c.391-32C= (n.391-32C=) c.145-32C= (n.145-32C=) | |
19 | g.1399058G>T | CA2582641077 | GAMT | c.460-32C>A (n.460-32C>A) c.143-32C>A n.293-32C>A c.391-32C>A (n.391-32C>A) c.145-32C>A (n.145-32C>A) | dbSNP gnomAD v4 |
19 | g.1399060A= | CA2317699068 | GAMT | c.460-34T= (n.460-34T=) c.143-34T= n.293-34T= c.391-34T= (n.391-34T=) c.145-34T= (n.145-34T=) | |
19 | g.1399060A>T | CA992513665 | GAMT | c.460-34T>A (n.460-34T>A) c.143-34T>A n.293-34T>A c.391-34T>A (n.391-34T>A) c.145-34T>A (n.145-34T>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399061G>C | CA2576548652 | GAMT | c.460-35C>G (n.460-35C>G) c.143-35C>G n.293-35C>G c.391-35C>G (n.391-35C>G) c.145-35C>G (n.145-35C>G) | |
19 | g.1399062G>A | CA2582641078 | GAMT | c.460-36C>T (n.460-36C>T) c.143-36C>T n.293-36C>T c.391-36C>T (n.391-36C>T) c.145-36C>T (n.145-36C>T) | gnomAD v4 |
19 | g.1399062_1399063delinsGT | CA2317699069 | GAMT | c.460-37_460-36delinsAC (n.460-37_460-36delinsAC) c.143-37_143-36delinsAC n.293-37_293-36delinsAC c.391-37_391-36delinsAC (n.391-37_391-36delinsAC) c.145-37_145-36delinsAC (n.145-37_145-36delinsAC) | |
19 | g.1399063del | CA631300632 | GAMT | c.460-37del (n.460-37del) c.143-37del n.293-37del c.391-37del (n.391-37del) c.145-37del (n.145-37del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399063T>G | CA992513668 | GAMT | c.460-37A>C (n.460-37A>C) c.143-37A>C n.293-37A>C c.391-37A>C (n.391-37A>C) c.145-37A>C (n.145-37A>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399063T= | CA2317699070 | GAMT | c.460-37A= (n.460-37A=) c.143-37A= n.293-37A= c.391-37A= (n.391-37A=) c.145-37A= (n.145-37A=) | |
19 | g.1399064G>A | CA2582641079 | GAMT | c.460-38C>T (n.460-38C>T) c.143-38C>T n.293-38C>T c.391-38C>T (n.391-38C>T) c.145-38C>T (n.145-38C>T) | gnomAD v4 |
19 | g.1399068dup | CA9043645 | GAMT | c.460-38dup (n.460-38dup) c.143-38dup n.293-38dup c.391-38dup (n.391-38dup) c.145-38dup (n.145-38dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399065G>T | CA2582641080 | GAMT | c.460-39C>A (n.460-39C>A) c.143-39C>A n.293-39C>A c.391-39C>A (n.391-39C>A) c.145-39C>A (n.145-39C>A) | gnomAD v4 |
19 | g.1399066G>A | CA9043646 | GAMT | c.460-40C>T (n.460-40C>T) c.143-40C>T n.293-40C>T c.391-40C>T (n.391-40C>T) c.145-40C>T (n.145-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399066G>C | CA2582641081 | GAMT | c.460-40C>G (n.460-40C>G) c.143-40C>G n.293-40C>G c.391-40C>G (n.391-40C>G) c.145-40C>G (n.145-40C>G) | gnomAD v4 |
19 | g.1399066G= | CA2317699071 | GAMT | c.460-40C= (n.460-40C=) c.143-40C= n.293-40C= c.391-40C= (n.391-40C=) c.145-40C= (n.145-40C=) | |
19 | g.1399066G>T | CA2317699072 | GAMT | c.460-40C>A (n.460-40C>A) c.143-40C>A n.293-40C>A c.391-40C>A (n.391-40C>A) c.145-40C>A (n.145-40C>A) | dbSNP |
19 | g.1399067G>A | CA2317699074 | GAMT | c.460-41C>T (n.460-41C>T) c.143-41C>T n.293-41C>T c.391-41C>T (n.391-41C>T) c.145-41C>T (n.145-41C>T) | dbSNP |
19 | g.1399067G>C | CA2582641082 | GAMT | c.460-41C>G (n.460-41C>G) c.143-41C>G n.293-41C>G c.391-41C>G (n.391-41C>G) c.145-41C>G (n.145-41C>G) | gnomAD v4 |
19 | g.1399067G= | CA2317699073 | GAMT | c.460-41C= (n.460-41C=) c.143-41C= n.293-41C= c.391-41C= (n.391-41C=) c.145-41C= (n.145-41C=) | |
19 | g.1399068G>C | CA2582641083 | GAMT | c.460-42C>G (n.460-42C>G) c.143-42C>G n.293-42C>G c.391-42C>G (n.391-42C>G) c.145-42C>G (n.145-42C>G) | gnomAD v4 |
19 | g.1399068G= | CA2317699075 | GAMT | c.460-42C= (n.460-42C=) c.143-42C= n.293-42C= c.391-42C= (n.391-42C=) c.145-42C= (n.145-42C=) | |
19 | g.1399068G>T | CA783446100 | GAMT | c.460-42C>A (n.460-42C>A) c.143-42C>A n.293-42C>A c.391-42C>A (n.391-42C>A) c.145-42C>A (n.145-42C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399069T>C | CA783446102 | GAMT | c.460-43A>G (n.460-43A>G) c.143-43A>G n.293-43A>G c.391-43A>G (n.391-43A>G) c.145-43A>G (n.145-43A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399069T= | CA2317699076 | GAMT | c.460-43A= (n.460-43A=) c.143-43A= n.293-43A= c.391-43A= (n.391-43A=) c.145-43A= (n.145-43A=) | |
19 | g.1399070G>T | CA2582641085 | GAMT | c.460-44C>A (n.460-44C>A) c.143-44C>A n.293-44C>A c.391-44C>A (n.391-44C>A) c.145-44C>A (n.145-44C>A) | gnomAD v4 |
19 | g.1399070_1399075dup | CA2582641084 | GAMT | c.460-49_460-44dup (n.460-49_460-44dup) c.143-49_143-44dup n.293-49_293-44dup c.391-49_391-44dup (n.391-49_391-44dup) c.145-49_145-44dup (n.145-49_145-44dup) | gnomAD v4 |
19 | g.1399072G>T | CA2813256008 | GAMT | c.460-46C>A (n.460-46C>A) c.143-46C>A n.293-46C>A c.391-46C>A (n.391-46C>A) c.145-46C>A (n.145-46C>A) | |
19 | g.1399074G>A | CA631300633 | GAMT | c.460-48C>T (n.460-48C>T) c.143-48C>T n.293-48C>T c.391-48C>T (n.391-48C>T) c.145-48C>T (n.145-48C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399074G= | CA2317699077 | GAMT | c.460-48C= (n.460-48C=) c.143-48C= n.293-48C= c.391-48C= (n.391-48C=) c.145-48C= (n.145-48C=) | |
19 | g.1399075C= | CA2317699078 | GAMT | c.460-49G= (n.460-49G=) c.143-49G= n.293-49G= c.391-49G= (n.391-49G=) c.145-49G= (n.145-49G=) | |
19 | g.1399075C>G | CA304066026 | GAMT | c.460-49G>C (n.460-49G>C) c.143-49G>C n.293-49G>C c.391-49G>C (n.391-49G>C) c.145-49G>C (n.145-49G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399077G>A | CA2582641087 | GAMT | c.460-51C>T (n.460-51C>T) c.143-51C>T n.293-51C>T c.391-51C>T (n.391-51C>T) c.145-51C>T (n.145-51C>T) | gnomAD v4 |
19 | g.1399077G>C | CA2576548653 | GAMT | c.460-51C>G (n.460-51C>G) c.143-51C>G n.293-51C>G c.391-51C>G (n.391-51C>G) c.145-51C>G (n.145-51C>G) | |
19 | g.1399082_1399094del | CA2582641086 | GAMT | c.459+39_460-51del (n.459+39_460-51del) c.142+39_143-51del n.292+39_293-51del c.390+39_391-51del (n.390+39_391-51del) c.144+39_145-51del (n.144+39_145-51del) | gnomAD v4 |
19 | g.1399079G>A | CA2582641088 | GAMT | c.459+49C>T (n.459+49C>T) c.142+49C>T n.292+49C>T c.390+49C>T (n.390+49C>T) c.144+49C>T (n.144+49C>T) | gnomAD v4 |