Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1398906G>A | CA402993884 | GAMT | c.570+10C>T (n.570+10C>T) c.580C>T (p.Pro194Ser) c.253+10C>T n.403+10C>T c.501+10C>T (n.501+10C>T) c.255+10C>T (n.255+10C>T) | gnomAD v4 |
19 | g.1398906G>C | CA402993890 | GAMT | c.570+10C>G (n.570+10C>G) c.580C>G (p.Pro194Ala) c.253+10C>G n.403+10C>G c.501+10C>G (n.501+10C>G) c.255+10C>G (n.255+10C>G) | |
19 | g.1398906G>T | CA402993888 | GAMT | c.570+10C>A (n.570+10C>A) c.580C>A (p.Pro194Thr) c.253+10C>A n.403+10C>A c.501+10C>A (n.501+10C>A) c.255+10C>A (n.255+10C>A) | |
19 | g.1398907T>A | CA504895008 | GAMT | c.570+9A>T (n.570+9A>T) c.579A>T (p.Pro193=) c.253+9A>T n.403+9A>T c.501+9A>T (n.501+9A>T) c.255+9A>T (n.255+9A>T) | |
19 | g.1398907T>C | CA504895009 | GAMT | c.570+9A>G (n.570+9A>G) c.579A>G (p.Pro193=) c.253+9A>G n.403+9A>G c.501+9A>G (n.501+9A>G) c.255+9A>G (n.255+9A>G) | |
19 | g.1398907T>G | CA9043607 | GAMT | c.570+9A>C (n.570+9A>C) c.579A>C (p.Pro193=) c.253+9A>C n.403+9A>C c.501+9A>C (n.501+9A>C) c.255+9A>C (n.255+9A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398907T= | CA2317698987 | GAMT | c.570+9A= (n.570+9A=) c.579A= (p.Pro193=) c.253+9A= n.403+9A= c.501+9A= (n.501+9A=) c.255+9A= (n.255+9A=) | |
19 | g.1398908G>A | CA402993896 | GAMT | c.570+8C>T (n.570+8C>T) c.578C>T (p.Pro193Leu) c.253+8C>T n.403+8C>T c.501+8C>T (n.501+8C>T) c.255+8C>T (n.255+8C>T) | |
19 | g.1398908G>C | CA402993899 | GAMT | c.570+8C>G (n.570+8C>G) c.578C>G (p.Pro193Arg) c.253+8C>G n.403+8C>G c.501+8C>G (n.501+8C>G) c.255+8C>G (n.255+8C>G) | |
19 | g.1398908G>T | CA402993902 | GAMT | c.570+8C>A (n.570+8C>A) c.578C>A (p.Pro193Gln) c.253+8C>A n.403+8C>A c.501+8C>A (n.501+8C>A) c.255+8C>A (n.255+8C>A) | |
19 | g.1398909G>A | CA402993909 | GAMT | c.570+7C>T (n.570+7C>T) c.577C>T (p.Pro193Ser) c.253+7C>T n.403+7C>T c.501+7C>T (n.501+7C>T) c.255+7C>T (n.255+7C>T) | |
19 | g.1398909G>C | CA402993912 | GAMT | c.570+7C>G (n.570+7C>G) c.577C>G (p.Pro193Ala) c.253+7C>G n.403+7C>G c.501+7C>G (n.501+7C>G) c.255+7C>G (n.255+7C>G) | |
19 | g.1398909G>T | CA402993918 | GAMT | c.570+7C>A (n.570+7C>A) c.577C>A (p.Pro193Thr) c.253+7C>A n.403+7C>A c.501+7C>A (n.501+7C>A) c.255+7C>A (n.255+7C>A) | |
19 | g.1398910G>A | CA9043608 | GAMT | c.570+6C>T (n.570+6C>T) c.576C>T (p.Arg192=) c.253+6C>T n.403+6C>T c.501+6C>T (n.501+6C>T) c.255+6C>T (n.255+6C>T) | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.1398910G>C | CA504895012 | GAMT | c.570+6C>G (n.570+6C>G) c.576C>G (p.Arg192=) c.253+6C>G n.403+6C>G c.501+6C>G (n.501+6C>G) c.255+6C>G (n.255+6C>G) | |
19 | g.1398910G= | CA2317698988 | GAMT | c.570+6C= (n.570+6C=) c.576C= (p.Arg192=) c.253+6C= n.403+6C= c.501+6C= (n.501+6C=) c.255+6C= (n.255+6C=) | |
19 | g.1398910G>T | CA504895015 | GAMT | c.570+6C>A (n.570+6C>A) c.576C>A (p.Arg192=) c.253+6C>A n.403+6C>A c.501+6C>A (n.501+6C>A) c.255+6C>A (n.255+6C>A) | |
19 | g.1398911C>A | CA9043609 | GAMT | c.570+5G>T (n.570+5G>T) c.575G>T (p.Arg192Leu) c.253+5G>T n.403+5G>T c.501+5G>T (n.501+5G>T) c.255+5G>T (n.255+5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398911C= | CA2317698989 | GAMT | c.570+5G= (n.570+5G=) c.575G= (p.Arg192=) c.253+5G= n.403+5G= c.501+5G= (n.501+5G=) c.255+5G= (n.255+5G=) | |
19 | g.1398911C>G | CA402993926 | GAMT | c.570+5G>C (n.570+5G>C) c.575G>C (p.Arg192Pro) c.253+5G>C n.403+5G>C c.501+5G>C (n.501+5G>C) c.255+5G>C (n.255+5G>C) | |
19 | g.1398911C>T | CA9043610 | GAMT | c.570+5G>A (n.570+5G>A) c.575G>A (p.Arg192His) c.253+5G>A n.403+5G>A c.501+5G>A (n.501+5G>A) c.255+5G>A (n.255+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1398912G>A | CA9043611 | GAMT | c.570+4C>T (n.570+4C>T) c.574C>T (p.Arg192Cys) c.253+4C>T n.403+4C>T c.501+4C>T (n.501+4C>T) c.255+4C>T (n.255+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398912G>C | CA402993935 | GAMT | c.570+4C>G (n.570+4C>G) c.574C>G (p.Arg192Gly) c.253+4C>G n.403+4C>G c.501+4C>G (n.501+4C>G) c.255+4C>G (n.255+4C>G) | |
19 | g.1398912G= | CA2317698990 | GAMT | c.570+4C= (n.570+4C=) c.574C= (p.Arg192=) c.253+4C= n.403+4C= c.501+4C= (n.501+4C=) c.255+4C= (n.255+4C=) | |
19 | g.1398912G>T | CA402993933 | GAMT | c.570+4C>A (n.570+4C>A) c.574C>A (p.Arg192Ser) c.253+4C>A n.403+4C>A c.501+4C>A (n.501+4C>A) c.255+4C>A (n.255+4C>A) | gnomAD v4 |
19 | g.1398913C>A | CA504895019 | GAMT | c.570+3G>T (n.570+3G>T) c.573G>T (p.Val191=) c.253+3G>T n.403+3G>T c.501+3G>T (n.501+3G>T) c.255+3G>T (n.255+3G>T) | |
19 | g.1398913C>G | CA504895017 | GAMT | c.570+3G>C (n.570+3G>C) c.573G>C (p.Val191=) c.253+3G>C n.403+3G>C c.501+3G>C (n.501+3G>C) c.255+3G>C (n.255+3G>C) | |
19 | g.1398913C>T | CA504895018 | GAMT | c.570+3G>A (n.570+3G>A) c.573G>A (p.Val191=) c.253+3G>A n.403+3G>A c.501+3G>A (n.501+3G>A) c.255+3G>A (n.255+3G>A) | gnomAD v4 |
19 | g.1398914A>C | CA402993937 | GAMT | c.570+2T>G (n.570+2T>G) c.572T>G (p.Val191Gly) c.253+2T>G n.403+2T>G c.501+2T>G (n.501+2T>G) c.255+2T>G (n.255+2T>G) | |
19 | g.1398914A>G | CA402993938 | GAMT | c.570+2T>C (n.570+2T>C) c.572T>C (p.Val191Ala) c.253+2T>C n.403+2T>C c.501+2T>C (n.501+2T>C) c.255+2T>C (n.255+2T>C) | |
19 | g.1398914A>T | CA402993940 | GAMT | c.570+2T>A (n.570+2T>A) c.572T>A (p.Val191Glu) c.253+2T>A n.403+2T>A c.501+2T>A (n.501+2T>A) c.255+2T>A (n.255+2T>A) | |
19 | g.1398915C>A | CA402993945 | GAMT | c.570+1G>T (n.570+1G>T) c.571G>T (p.Val191Leu) c.253+1G>T n.403+1G>T c.501+1G>T (n.501+1G>T) c.255+1G>T (n.255+1G>T) | |
19 | g.1398915C>G | CA402993947 | GAMT | c.570+1G>C (n.570+1G>C) c.571G>C (p.Val191Leu) c.253+1G>C n.403+1G>C c.501+1G>C (n.501+1G>C) c.255+1G>C (n.255+1G>C) | |
19 | g.1398915C>T | CA402993948 | GAMT | c.570+1G>A (n.570+1G>A) c.571G>A (p.Val191Met) c.253+1G>A n.403+1G>A c.501+1G>A (n.501+1G>A) c.255+1G>A (n.255+1G>A) | ClinVar dbSNP |
19 | g.1398916C>A | CA402993950 | GAMT | c.570G>T (p.Glu190Asp) c.253G>T n.403G>T c.501G>T (p.Glu167Asp) c.255G>T (p.Glu85Asp) | |
19 | g.1398916C>G | CA402993951 | GAMT | c.570G>C (p.Glu190Asp) c.253G>C n.403G>C c.501G>C (p.Glu167Asp) c.255G>C (p.Glu85Asp) | |
19 | g.1398916C>T | CA504895025 | GAMT | c.570G>A (p.Glu190=) c.253G>A n.403G>A c.501G>A (p.Glu167=) c.255G>A (p.Glu85=) | |
19 | g.1398916_1398917delinsCT | CA2317698991 | GAMT | c.569_570delinsAG (p.Glu190=) c.252_253delinsAG n.402_403delinsAG c.500_501delinsAG (p.Glu167=) c.254_255delinsAG (p.Glu85=) | |
19 | g.1398917del | CA2317698992 | GAMT | c.569del (p.Glu190GlyfsTer22) c.569del (p.Glu190GlyfsTer?) c.252del n.402del c.500del (p.Glu167GlyfsTer22) c.254del (p.Glu85GlyfsTer?) | dbSNP |
19 | g.1398917T>A | CA402993953 | GAMT | c.569A>T (p.Glu190Val) c.252A>T n.402A>T c.500A>T (p.Glu167Val) c.254A>T (p.Glu85Val) | |
19 | g.1398917T>C | CA402993955 | GAMT | c.569A>G (p.Glu190Gly) c.252A>G n.402A>G c.500A>G (p.Glu167Gly) c.254A>G (p.Glu85Gly) | |
19 | g.1398917T>G | CA402993956 | GAMT | c.569A>C (p.Glu190Ala) c.252A>C n.402A>C c.500A>C (p.Glu167Ala) c.254A>C (p.Glu85Ala) | |
19 | g.1398918C>A | CA402993959 | GAMT | c.568G>T (p.Glu190Ter) c.251G>T n.401G>T c.499G>T (p.Glu167Ter) c.253G>T (p.Glu85Ter) | gnomAD v4 |
19 | g.1398918C>G | CA402993961 | GAMT | c.568G>C (p.Glu190Gln) c.251G>C n.401G>C c.499G>C (p.Glu167Gln) c.253G>C (p.Glu85Gln) | |
19 | g.1398918C>T | CA402993966 | GAMT | c.568G>A (p.Glu190Lys) c.251G>A n.401G>A c.499G>A (p.Glu167Lys) c.253G>A (p.Glu85Lys) | gnomAD v4 COSMIC COSMIC |
19 | g.1398919A= | CA2317698993 | GAMT | c.567T= (p.Phe189=) c.250T= n.400T= c.498T= (p.Phe166=) c.252T= (p.Phe84=) | |
19 | g.1398919A>C | CA402993971 | GAMT | c.567T>G (p.Phe189Leu) c.250T>G n.400T>G c.498T>G (p.Phe166Leu) c.252T>G (p.Phe84Leu) | dbSNP gnomAD v4 |
19 | g.1398919A>G | CA504895029 | GAMT | c.567T>C (p.Phe189=) c.250T>C n.400T>C c.498T>C (p.Phe166=) c.252T>C (p.Phe84=) | |
19 | g.1398919A>T | CA402993974 | GAMT | c.567T>A (p.Phe189Leu) c.250T>A n.400T>A c.498T>A (p.Phe166Leu) c.252T>A (p.Phe84Leu) | |
19 | g.1398920A>C | CA402993976 | GAMT | c.566T>G (p.Phe189Cys) c.249T>G n.399T>G c.497T>G (p.Phe166Cys) c.251T>G (p.Phe84Cys) | |
19 | g.1398920A>G | CA402993977 | GAMT | c.566T>C (p.Phe189Ser) c.249T>C n.399T>C c.497T>C (p.Phe166Ser) c.251T>C (p.Phe84Ser) | |
19 | g.1398920A>T | CA402993978 | GAMT | c.566T>A (p.Phe189Tyr) c.249T>A n.399T>A c.497T>A (p.Phe166Tyr) c.251T>A (p.Phe84Tyr) | |
19 | g.1398921A>C | CA402993981 | GAMT | c.565T>G (p.Phe189Val) c.248T>G n.398T>G c.496T>G (p.Phe166Val) c.250T>G (p.Phe84Val) | |
19 | g.1398921A>G | CA402993990 | GAMT | c.565T>C (p.Phe189Leu) c.248T>C n.398T>C c.496T>C (p.Phe166Leu) c.250T>C (p.Phe84Leu) | gnomAD v4 |
19 | g.1398921A>T | CA402993992 | GAMT | c.565T>A (p.Phe189Ile) c.248T>A n.398T>A c.496T>A (p.Phe166Ile) c.250T>A (p.Phe84Ile) | |
19 | g.1398922C>A | CA402994004 | GAMT | c.564G>T (p.Met188Ile) c.247G>T n.397G>T c.495G>T (p.Met165Ile) c.249G>T (p.Met83Ile) | ClinVar |
19 | g.1398922C>G | CA402994008 | GAMT | c.564G>C (p.Met188Ile) c.247G>C n.397G>C c.495G>C (p.Met165Ile) c.249G>C (p.Met83Ile) | |
19 | g.1398922C>T | CA402994013 | GAMT | c.564G>A (p.Met188Ile) c.247G>A n.397G>A c.495G>A (p.Met165Ile) c.249G>A (p.Met83Ile) | gnomAD v4 |
19 | g.1398922dup | CA2838629553 | GAMT | c.564dup (p.Phe189ValfsTer2) c.247dup n.397dup c.495dup (p.Phe166ValfsTer2) c.249dup (p.Phe84ValfsTer2) | |
19 | g.1398922_1398924dup | CA2813256000 | GAMT | c.562_564dup (p.Met188_Phe189insMet) c.245_247dup n.395_397dup c.493_495dup (p.Met165_Phe166insMet) c.247_249dup (p.Met83_Phe84insMet) | |
19 | g.1398923A= | CA2317698994 | GAMT | c.563T= (p.Met188=) c.246T= n.396T= c.494T= (p.Met165=) c.248T= (p.Met83=) | |
19 | g.1398923A>C | CA402994017 | GAMT | c.563T>G (p.Met188Arg) c.246T>G n.396T>G c.494T>G (p.Met165Arg) c.248T>G (p.Met83Arg) | |
19 | g.1398923A>G | CA402994021 | GAMT | c.563T>C (p.Met188Thr) c.246T>C n.396T>C c.494T>C (p.Met165Thr) c.248T>C (p.Met83Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1398923A>T | CA402994027 | GAMT | c.563T>A (p.Met188Lys) c.246T>A n.396T>A c.494T>A (p.Met165Lys) c.248T>A (p.Met83Lys) | ClinVar dbSNP |
19 | g.1398926_1398928del | CA2813256001 | GAMT | c.561_563del (p.Ile187del) c.244_246del n.394_396del c.492_494del (p.Ile164del) c.246_248del (p.Ile82del) | |
19 | g.1398924T>A | CA402994031 | GAMT | c.562A>T (p.Met188Leu) c.245A>T n.395A>T c.493A>T (p.Met165Leu) c.247A>T (p.Met83Leu) | |
19 | g.1398924T>C | CA402994039 | GAMT | c.562A>G (p.Met188Val) c.245A>G n.395A>G c.493A>G (p.Met165Val) c.247A>G (p.Met83Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1398924T>G | CA402994034 | GAMT | c.562A>C (p.Met188Leu) c.245A>C n.395A>C c.493A>C (p.Met165Leu) c.247A>C (p.Met83Leu) | |
19 | g.1398924T= | CA2317698995 | GAMT | c.562A= (p.Met188=) c.245A= n.395A= c.493A= (p.Met165=) c.247A= (p.Met83=) | |
19 | g.1398925G>A | CA504895039 | GAMT | c.561C>T (p.Ile187=) c.244C>T n.394C>T c.492C>T (p.Ile164=) c.246C>T (p.Ile82=) | COSMIC COSMIC |
19 | g.1398925G>C | CA402994042 | GAMT | c.561C>G (p.Ile187Met) c.244C>G n.394C>G c.492C>G (p.Ile164Met) c.246C>G (p.Ile82Met) | |
19 | g.1398925G>T | CA504895041 | GAMT | c.561C>A (p.Ile187=) c.244C>A n.394C>A c.492C>A (p.Ile164=) c.246C>A (p.Ile82=) | |
19 | g.1398926A= | CA2317698996 | GAMT | c.560T= (p.Ile187=) c.243T= n.393T= c.491T= (p.Ile164=) c.245T= (p.Ile82=) | |
19 | g.1398926A>C | CA402994043 | GAMT | c.560T>G (p.Ile187Ser) c.243T>G n.393T>G c.491T>G (p.Ile164Ser) c.245T>G (p.Ile82Ser) | |
19 | g.1398926A>G | CA402994047 | GAMT | c.560T>C (p.Ile187Thr) c.243T>C n.393T>C c.491T>C (p.Ile164Thr) c.245T>C (p.Ile82Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1398926A>T | CA402994050 | GAMT | c.560T>A (p.Ile187Asn) c.243T>A n.393T>A c.491T>A (p.Ile164Asn) c.245T>A (p.Ile82Asn) | |
19 | g.1398927T>A | CA402994052 | GAMT | c.559A>T (p.Ile187Phe) c.242A>T n.392A>T c.490A>T (p.Ile164Phe) c.244A>T (p.Ile82Phe) | |
19 | g.1398927T>C | CA402994055 | GAMT | c.559A>G (p.Ile187Val) c.242A>G n.392A>G c.490A>G (p.Ile164Val) c.244A>G (p.Ile82Val) | dbSNP gnomAD v4 |
19 | g.1398927T>G | CA402994058 | GAMT | c.559A>C (p.Ile187Leu) c.242A>C n.392A>C c.490A>C (p.Ile164Leu) c.244A>C (p.Ile82Leu) | |
19 | g.1398927T= | CA2317698997 | GAMT | c.559A= (p.Ile187=) c.242A= n.392A= c.490A= (p.Ile164=) c.244A= (p.Ile82=) | |
19 | g.1398928G>A | CA504895044 | GAMT | c.558C>T (p.Thr186=) c.241C>T n.391C>T c.489C>T (p.Thr163=) c.243C>T (p.Thr81=) | |
19 | g.1398928G>C | CA9043612 | GAMT | c.558C>G (p.Thr186=) c.241C>G n.391C>G c.489C>G (p.Thr163=) c.243C>G (p.Thr81=) | dbSNP ExAC |
19 | g.1398928G= | CA2317698998 | GAMT | c.558C= (p.Thr186=) c.241C= n.391C= c.489C= (p.Thr163=) c.243C= (p.Thr81=) | |
19 | g.1398928G>T | CA504895047 | GAMT | c.558C>A (p.Thr186=) c.241C>A n.391C>A c.489C>A (p.Thr163=) c.243C>A (p.Thr81=) | |
19 | g.1398929G>A | CA402994074 | GAMT | c.557C>T (p.Thr186Ile) c.240C>T n.390C>T c.488C>T (p.Thr163Ile) c.242C>T (p.Thr81Ile) | |
19 | g.1398929G>C | CA402994079 | GAMT | c.557C>G (p.Thr186Ser) c.240C>G n.390C>G c.488C>G (p.Thr163Ser) c.242C>G (p.Thr81Ser) | |
19 | g.1398929G>T | CA402994082 | GAMT | c.557C>A (p.Thr186Asn) c.240C>A n.390C>A c.488C>A (p.Thr163Asn) c.242C>A (p.Thr81Asn) | |
19 | g.1398930T>A | CA402994092 | GAMT | c.556A>T (p.Thr186Ser) c.239A>T n.389A>T c.487A>T (p.Thr163Ser) c.241A>T (p.Thr81Ser) | |
19 | g.1398930T>C | CA402994088 | GAMT | c.556A>G (p.Thr186Ala) c.239A>G n.389A>G c.487A>G (p.Thr163Ala) c.241A>G (p.Thr81Ala) | |
19 | g.1398930T>G | CA402994087 | GAMT | c.556A>C (p.Thr186Pro) c.239A>C n.389A>C c.487A>C (p.Thr163Pro) c.241A>C (p.Thr81Pro) | |
19 | g.1398931G>A | CA504895050 | GAMT | c.555C>T (p.Ile185=) c.238C>T n.388C>T c.486C>T (p.Ile162=) c.240C>T (p.Ile80=) | ClinVar dbSNP |
19 | g.1398931G>C | CA402994095 | GAMT | c.555C>G (p.Ile185Met) c.238C>G n.388C>G c.486C>G (p.Ile162Met) c.240C>G (p.Ile80Met) | |
19 | g.1398931G>T | CA504895051 | GAMT | c.555C>A (p.Ile185=) c.238C>A n.388C>A c.486C>A (p.Ile162=) c.240C>A (p.Ile80=) | |
19 | g.1398932A>C | CA402994102 | GAMT | c.554T>G (p.Ile185Ser) c.237T>G n.387T>G c.485T>G (p.Ile162Ser) c.239T>G (p.Ile80Ser) | |
19 | g.1398932A>G | CA402994106 | GAMT | c.554T>C (p.Ile185Thr) c.237T>C n.387T>C c.485T>C (p.Ile162Thr) c.239T>C (p.Ile80Thr) | |
19 | g.1398932A>T | CA402994110 | GAMT | c.554T>A (p.Ile185Asn) c.237T>A n.387T>A c.485T>A (p.Ile162Asn) c.239T>A (p.Ile80Asn) | |
19 | g.1398933T>A | CA402994117 | GAMT | c.553A>T (p.Ile185Phe) c.236A>T n.386A>T c.484A>T (p.Ile162Phe) c.238A>T (p.Ile80Phe) | |
19 | g.1398933T>C | CA9043613 | GAMT | c.553A>G (p.Ile185Val) c.236A>G n.386A>G c.484A>G (p.Ile162Val) c.238A>G (p.Ile80Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1398933T>G | CA9043614 | GAMT | c.553A>C (p.Ile185Leu) c.236A>C n.386A>C c.484A>C (p.Ile162Leu) c.238A>C (p.Ile80Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1398933T= | CA2317698999 | GAMT | c.553A= (p.Ile185=) c.236A= n.386A= c.484A= (p.Ile162=) c.238A= (p.Ile80=) | |
19 | g.1398934G>A | CA504895054 | GAMT | c.552C>T (p.Asp184=) c.235C>T n.385C>T c.483C>T (p.Asp161=) c.237C>T (p.Asp79=) | ClinVar gnomAD v4 |
19 | g.1398934G>C | CA402994121 | GAMT | c.552C>G (p.Asp184Glu) c.235C>G n.385C>G c.483C>G (p.Asp161Glu) c.237C>G (p.Asp79Glu) | |
19 | g.1398934G>T | CA402994124 | GAMT | c.552C>A (p.Asp184Glu) c.235C>A n.385C>A c.483C>A (p.Asp161Glu) c.237C>A (p.Asp79Glu) | |
19 | g.1398935T>A | CA402994126 | GAMT | c.551A>T (p.Asp184Val) c.234A>T n.384A>T c.482A>T (p.Asp161Val) c.236A>T (p.Asp79Val) | |
19 | g.1398935T>C | CA402994135 | GAMT | c.551A>G (p.Asp184Gly) c.234A>G n.384A>G c.482A>G (p.Asp161Gly) c.236A>G (p.Asp79Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1398935T>G | CA402994137 | GAMT | c.551A>C (p.Asp184Ala) c.234A>C n.384A>C c.482A>C (p.Asp161Ala) c.236A>C (p.Asp79Ala) | |
19 | g.1398935T= | CA2317699000 | GAMT | c.551A= (p.Asp184=) c.234A= n.384A= c.482A= (p.Asp161=) c.236A= (p.Asp79=) | |
19 | g.1398936C>A | CA402994146 | GAMT | c.550G>T (p.Asp184Tyr) c.233G>T n.383G>T c.481G>T (p.Asp161Tyr) c.235G>T (p.Asp79Tyr) | |
19 | g.1398936C>G | CA402994150 | GAMT | c.550G>C (p.Asp184His) c.233G>C n.383G>C c.481G>C (p.Asp161His) c.235G>C (p.Asp79His) | |
19 | g.1398936C>T | CA402994140 | GAMT | c.550G>A (p.Asp184Asn) c.233G>A n.383G>A c.481G>A (p.Asp161Asn) c.235G>A (p.Asp79Asn) | |
19 | g.1398937T>A | CA504895056 | GAMT | c.549A>T (p.Ser183=) c.232A>T n.382A>T c.480A>T (p.Ser160=) c.234A>T (p.Ser78=) | |
19 | g.1398937T>C | CA504895057 | GAMT | c.549A>G (p.Ser183=) c.232A>G n.382A>G c.480A>G (p.Ser160=) c.234A>G (p.Ser78=) | dbSNP |
19 | g.1398937T>G | CA504895059 | GAMT | c.549A>C (p.Ser183=) c.232A>C n.382A>C c.480A>C (p.Ser160=) c.234A>C (p.Ser78=) | |
19 | g.1398938G>A | CA402994152 | GAMT | c.548C>T (p.Ser183Leu) c.231C>T n.381C>T c.479C>T (p.Ser160Leu) c.233C>T (p.Ser78Leu) | dbSNP |
19 | g.1398938G>C | CA402994155 | GAMT | c.548C>G (p.Ser183Ter) c.231C>G n.381C>G c.479C>G (p.Ser160Ter) c.233C>G (p.Ser78Ter) | |
19 | g.1398938G= | CA2317699001 | GAMT | c.548C= (p.Ser183=) c.231C= n.381C= c.479C= (p.Ser160=) c.233C= (p.Ser78=) | |
19 | g.1398938G>T | CA402994156 | GAMT | c.548C>A (p.Ser183Ter) c.231C>A n.381C>A c.479C>A (p.Ser160Ter) c.233C>A (p.Ser78Ter) | |
19 | g.1398939A>C | CA402994160 | GAMT | c.547T>G (p.Ser183Ala) c.230T>G n.380T>G c.478T>G (p.Ser160Ala) c.232T>G (p.Ser78Ala) | |
19 | g.1398939A>G | CA402994163 | GAMT | c.547T>C (p.Ser183Pro) c.230T>C n.380T>C c.478T>C (p.Ser160Pro) c.232T>C (p.Ser78Pro) | |
19 | g.1398939A>T | CA402994176 | GAMT | c.547T>A (p.Ser183Thr) c.230T>A n.380T>A c.478T>A (p.Ser160Thr) c.232T>A (p.Ser78Thr) | |
19 | g.1398940G>A | CA504895062 | GAMT | c.546C>T (p.Tyr182=) c.229C>T n.379C>T c.477C>T (p.Tyr159=) c.231C>T (p.Tyr77=) | |
19 | g.1398940G>C | CA402994182 | GAMT | c.546C>G (p.Tyr182Ter) c.229C>G n.379C>G c.477C>G (p.Tyr159Ter) c.231C>G (p.Tyr77Ter) | |
19 | g.1398940G>T | CA402994184 | GAMT | c.546C>A (p.Tyr182Ter) c.229C>A n.379C>A c.477C>A (p.Tyr159Ter) c.231C>A (p.Tyr77Ter) | |
19 | g.1398941T>A | CA402994187 | GAMT | c.545A>T (p.Tyr182Phe) c.228A>T n.378A>T c.476A>T (p.Tyr159Phe) c.230A>T (p.Tyr77Phe) | |
19 | g.1398941T>C | CA402994188 | GAMT | c.545A>G (p.Tyr182Cys) c.228A>G n.378A>G c.476A>G (p.Tyr159Cys) c.230A>G (p.Tyr77Cys) | |
19 | g.1398941T>G | CA402994189 | GAMT | c.545A>C (p.Tyr182Ser) c.228A>C n.378A>C c.476A>C (p.Tyr159Ser) c.230A>C (p.Tyr77Ser) | |
19 | g.1398942A>C | CA402994190 | GAMT | c.544T>G (p.Tyr182Asp) c.227T>G n.377T>G c.475T>G (p.Tyr159Asp) c.229T>G (p.Tyr77Asp) | |
19 | g.1398942A>G | CA402994191 | GAMT | c.544T>C (p.Tyr182His) c.227T>C n.377T>C c.475T>C (p.Tyr159His) c.229T>C (p.Tyr77His) | |
19 | g.1398942A>T | CA402994194 | GAMT | c.544T>A (p.Tyr182Asn) c.227T>A n.377T>A c.475T>A (p.Tyr159Asn) c.229T>A (p.Tyr77Asn) | |
19 | g.1398943C>A | CA402994209 | GAMT | c.543G>T (p.Lys181Asn) c.226G>T n.376G>T c.474G>T (p.Lys158Asn) c.228G>T (p.Lys76Asn) | |
19 | g.1398943C>G | CA402994206 | GAMT | c.543G>C (p.Lys181Asn) c.226G>C n.376G>C c.474G>C (p.Lys158Asn) c.228G>C (p.Lys76Asn) | |
19 | g.1398943C>T | CA504895067 | GAMT | c.543G>A (p.Lys181=) c.226G>A n.376G>A c.474G>A (p.Lys158=) c.228G>A (p.Lys76=) | ClinVar dbSNP gnomAD v4 |
19 | g.1398944T>A | CA402994211 | GAMT | c.542A>T (p.Lys181Met) c.225A>T n.375A>T c.473A>T (p.Lys158Met) c.227A>T (p.Lys76Met) | |
19 | g.1398944T>C | CA402994219 | GAMT | c.542A>G (p.Lys181Arg) c.225A>G n.375A>G c.473A>G (p.Lys158Arg) c.227A>G (p.Lys76Arg) | |
19 | g.1398944T>G | CA402994223 | GAMT | c.542A>C (p.Lys181Thr) c.225A>C n.375A>C c.473A>C (p.Lys158Thr) c.227A>C (p.Lys76Thr) | |
19 | g.1398945T>A | CA402994230 | GAMT | c.541A>T (p.Lys181Ter) c.224A>T n.374A>T c.472A>T (p.Lys158Ter) c.226A>T (p.Lys76Ter) | |
19 | g.1398945T>C | CA402994232 | GAMT | c.541A>G (p.Lys181Glu) c.224A>G n.374A>G c.472A>G (p.Lys158Glu) c.226A>G (p.Lys76Glu) | |
19 | g.1398945T>G | CA402994235 | GAMT | c.541A>C (p.Lys181Gln) c.224A>C n.374A>C c.472A>C (p.Lys158Gln) c.226A>C (p.Lys76Gln) | |
19 | g.1398946G>A | CA504895072 | GAMT | c.540C>T (p.Ser180=) c.223C>T n.373C>T c.471C>T (p.Ser157=) c.225C>T (p.Ser75=) | ClinVar dbSNP |
19 | g.1398946G>C | CA504895074 | GAMT | c.540C>G (p.Ser180=) c.223C>G n.373C>G c.471C>G (p.Ser157=) c.225C>G (p.Ser75=) | |
19 | g.1398946G>T | CA504895073 | GAMT | c.540C>A (p.Ser180=) c.223C>A n.373C>A c.471C>A (p.Ser157=) c.225C>A (p.Ser75=) | |
19 | g.1398947G>A | CA402994244 | GAMT | c.539C>T (p.Ser180Phe) c.222C>T n.372C>T c.470C>T (p.Ser157Phe) c.224C>T (p.Ser75Phe) | gnomAD v4 |
19 | g.1398947G>C | CA402994237 | GAMT | c.539C>G (p.Ser180Cys) c.222C>G n.372C>G c.470C>G (p.Ser157Cys) c.224C>G (p.Ser75Cys) | |
19 | g.1398947G>T | CA402994241 | GAMT | c.539C>A (p.Ser180Tyr) c.222C>A n.372C>A c.470C>A (p.Ser157Tyr) c.224C>A (p.Ser75Tyr) | |
19 | g.1398948A>C | CA402994247 | GAMT | c.538T>G (p.Ser180Ala) c.221T>G n.371T>G c.469T>G (p.Ser157Ala) c.223T>G (p.Ser75Ala) | |
19 | g.1398948A>G | CA402994248 | GAMT | c.538T>C (p.Ser180Pro) c.221T>C n.371T>C c.469T>C (p.Ser157Pro) c.223T>C (p.Ser75Pro) | |
19 | g.1398948A>T | CA402994250 | GAMT | c.538T>A (p.Ser180Thr) c.221T>A n.371T>A c.469T>A (p.Ser157Thr) c.223T>A (p.Ser75Thr) | |
19 | g.1398949C>A | CA402994252 | GAMT | c.537G>T (p.Lys179Asn) c.220G>T n.370G>T c.468G>T (p.Lys156Asn) c.222G>T (p.Lys74Asn) | |
19 | g.1398949C>G | CA402994254 | GAMT | c.537G>C (p.Lys179Asn) c.220G>C n.370G>C c.468G>C (p.Lys156Asn) c.222G>C (p.Lys74Asn) | gnomAD v4 |
19 | g.1398949C>T | CA504895081 | GAMT | c.537G>A (p.Lys179=) c.220G>A n.370G>A c.468G>A (p.Lys156=) c.222G>A (p.Lys74=) | ClinVar dbSNP |
19 | g.1398950T>A | CA402994264 | GAMT | c.536A>T (p.Lys179Met) c.219A>T n.369A>T c.467A>T (p.Lys156Met) c.221A>T (p.Lys74Met) | |
19 | g.1398950T>C | CA402994255 | GAMT | c.536A>G (p.Lys179Arg) c.219A>G n.369A>G c.467A>G (p.Lys156Arg) c.221A>G (p.Lys74Arg) | |
19 | g.1398950T>G | CA402994258 | GAMT | c.536A>C (p.Lys179Thr) c.219A>C n.369A>C c.467A>C (p.Lys156Thr) c.221A>C (p.Lys74Thr) | |
19 | g.1398951del | CA2573155786 | GAMT | c.536del (p.Lys179SerfsTer?) c.219del n.369del c.467del (p.Lys156SerfsTer?) c.221del (p.Lys74SerfsTer?) | ClinVar dbSNP |
19 | g.1398950_1398953delinsTTCA | CA2317699002 | GAMT | c.533_536delinsTGAA (p.Met178=) c.216_219delinsTGAA n.366_369delinsTGAA c.464_467delinsTGAA (p.Met155=) c.218_221delinsTGAA (p.Met73=) | |
19 | g.1398951T>A | CA402994266 | GAMT | c.535A>T (p.Lys179Ter) c.218A>T n.368A>T c.466A>T (p.Lys156Ter) c.220A>T (p.Lys74Ter) | |
19 | g.1398951T>C | CA402994269 | GAMT | c.535A>G (p.Lys179Glu) c.218A>G n.368A>G c.466A>G (p.Lys156Glu) c.220A>G (p.Lys74Glu) | |
19 | g.1398951T>G | CA402994274 | GAMT | c.535A>C (p.Lys179Gln) c.218A>C n.368A>C c.466A>C (p.Lys156Gln) c.220A>C (p.Lys74Gln) | |
19 | g.1398954_1398956del | CA304065927 | GAMT | c.533_535del (p.Met178del) c.216_218del n.366_368del c.464_466del (p.Met155del) c.218_220del (p.Met73del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1398952C>A | CA402994276 | GAMT | c.534G>T (p.Met178Ile) c.217G>T n.367G>T c.465G>T (p.Met155Ile) c.219G>T (p.Met73Ile) | dbSNP |
19 | g.1398952C= | CA2317699003 | GAMT | c.534G= (p.Met178=) c.217G= n.367G= c.465G= (p.Met155=) c.219G= (p.Met73=) | |
19 | g.1398952C>G | CA402994278 | GAMT | c.534G>C (p.Met178Ile) c.217G>C n.367G>C c.465G>C (p.Met155Ile) c.219G>C (p.Met73Ile) | |
19 | g.1398952C>T | CA402994280 | GAMT | c.534G>A (p.Met178Ile) c.217G>A n.367G>A c.465G>A (p.Met155Ile) c.219G>A (p.Met73Ile) | gnomAD v4 |
19 | g.1398952dup | CA2573155787 | GAMT | c.534dup (p.Lys179GlufsTer12) c.217dup n.367dup c.465dup (p.Lys156GlufsTer12) c.219dup (p.Lys74GlufsTer12) | ClinVar dbSNP |
19 | g.1398953A>C | CA402994284 | GAMT | c.533T>G (p.Met178Arg) c.216T>G n.366T>G c.464T>G (p.Met155Arg) c.218T>G (p.Met73Arg) | gnomAD v4 |
19 | g.1398953A>G | CA402994282 | GAMT | c.533T>C (p.Met178Thr) c.216T>C n.366T>C c.464T>C (p.Met155Thr) c.218T>C (p.Met73Thr) | gnomAD v4 |
19 | g.1398953A>T | CA402994281 | GAMT | c.533T>A (p.Met178Lys) c.216T>A n.366T>A c.464T>A (p.Met155Lys) c.218T>A (p.Met73Lys) | |
19 | g.1398954T>A | CA402994286 | GAMT | c.532A>T (p.Met178Leu) c.215A>T n.365A>T c.463A>T (p.Met155Leu) c.217A>T (p.Met73Leu) | |
19 | g.1398954T>C | CA402994288 | GAMT | c.532A>G (p.Met178Val) c.215A>G n.365A>G c.463A>G (p.Met155Val) c.217A>G (p.Met73Val) | |
19 | g.1398954T>G | CA402994291 | GAMT | c.532A>C (p.Met178Leu) c.215A>C n.365A>C c.463A>C (p.Met155Leu) c.217A>C (p.Met73Leu) | |
19 | g.1398955C>A | CA504895086 | GAMT | c.531G>T (p.Leu177=) c.214G>T n.364G>T c.462G>T (p.Leu154=) c.216G>T (p.Leu72=) | |
19 | g.1398955C>G | CA504895087 | GAMT | c.531G>C (p.Leu177=) c.214G>C n.364G>C c.462G>C (p.Leu154=) c.216G>C (p.Leu72=) | |
19 | g.1398955C>T | CA504895089 | GAMT | c.531G>A (p.Leu177=) c.214G>A n.364G>A c.462G>A (p.Leu154=) c.216G>A (p.Leu72=) | ClinVar dbSNP |
19 | g.1398956A= | CA2317699004 | GAMT | c.530T= (p.Leu177=) c.213T= n.363T= c.461T= (p.Leu154=) c.215T= (p.Leu72=) | |
19 | g.1398956A>C | CA402994301 | GAMT | c.530T>G (p.Leu177Arg) c.213T>G n.363T>G c.461T>G (p.Leu154Arg) c.215T>G (p.Leu72Arg) | ClinVar dbSNP |
19 | g.1398956A>G | CA402994306 | GAMT | c.530T>C (p.Leu177Pro) c.213T>C n.363T>C c.461T>C (p.Leu154Pro) c.215T>C (p.Leu72Pro) | |
19 | g.1398956A>T | CA402994308 | GAMT | c.530T>A (p.Leu177Gln) c.213T>A n.363T>A c.461T>A (p.Leu154Gln) c.215T>A (p.Leu72Gln) | |
19 | g.1398957G>A | CA9043615 | GAMT | c.529C>T (p.Leu177=) c.212C>T n.362C>T c.460C>T (p.Leu154=) c.214C>T (p.Leu72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398957G>C | CA402994325 | GAMT | c.529C>G (p.Leu177Val) c.212C>G n.362C>G c.460C>G (p.Leu154Val) c.214C>G (p.Leu72Val) | ClinVar dbSNP |
19 | g.1398957G= | CA2317699005 | GAMT | c.529C= (p.Leu177=) c.212C= n.362C= c.460C= (p.Leu154=) c.214C= (p.Leu72=) | |
19 | g.1398957G>T | CA402994323 | GAMT | c.529C>A (p.Leu177Met) c.212C>A n.362C>A c.460C>A (p.Leu154Met) c.214C>A (p.Leu72Met) | |
19 | g.1398958C>A | CA402994326 | GAMT | c.528G>T (p.Glu176Asp) c.211G>T n.361G>T c.459G>T (p.Glu153Asp) c.213G>T (p.Glu71Asp) | |
19 | g.1398958C>G | CA402994327 | GAMT | c.528G>C (p.Glu176Asp) c.211G>C n.361G>C c.459G>C (p.Glu153Asp) c.213G>C (p.Glu71Asp) | |
19 | g.1398958C>T | CA504895091 | GAMT | c.528G>A (p.Glu176=) c.211G>A n.361G>A c.459G>A (p.Glu153=) c.213G>A (p.Glu71=) | gnomAD v4 |
19 | g.1398959T>A | CA402994328 | GAMT | c.527A>T (p.Glu176Val) c.210A>T n.360A>T c.458A>T (p.Glu153Val) c.212A>T (p.Glu71Val) | |
19 | g.1398959T>C | CA402994329 | GAMT | c.527A>G (p.Glu176Gly) c.210A>G n.360A>G c.458A>G (p.Glu153Gly) c.212A>G (p.Glu71Gly) | ClinVar gnomAD v4 |
19 | g.1398959T>G | CA314818 | GAMT | c.527A>C (p.Glu176Ala) c.210A>C n.360A>C c.458A>C (p.Glu153Ala) c.212A>C (p.Glu71Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1398959T= | CA2317699006 | GAMT | c.527A= (p.Glu176=) c.210A= n.360A= c.458A= (p.Glu153=) c.212A= (p.Glu71=) | |
19 | g.1398960C>A | CA314816 | GAMT | c.526G>T (p.Glu176Ter) c.209G>T n.359G>T c.457G>T (p.Glu153Ter) c.211G>T (p.Glu71Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.1398960C= | CA2317699007 | GAMT | c.526G= (p.Glu176=) c.209G= n.359G= c.457G= (p.Glu153=) c.211G= (p.Glu71=) | |
19 | g.1398960C>G | CA402994331 | GAMT | c.526G>C (p.Glu176Gln) c.209G>C n.359G>C c.457G>C (p.Glu153Gln) c.211G>C (p.Glu71Gln) | |
19 | g.1398960C>T | CA402994336 | GAMT | c.526G>A (p.Glu176Lys) c.209G>A n.359G>A c.457G>A (p.Glu153Lys) c.211G>A (p.Glu71Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1398965dup | CA913184710 | GAMT | c.526dup (p.Glu176GlyfsTer15) c.209dup n.359dup c.457dup (p.Glu153GlyfsTer15) c.211dup (p.Glu71GlyfsTer15) | ClinVar dbSNP gnomAD v4 |
19 | g.1398965del | CA2499225402 | GAMT | c.526del (p.Glu176SerfsTer2) c.209del n.359del c.457del (p.Glu153SerfsTer2) c.211del (p.Glu71SerfsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1398961C>A | CA504895097 | GAMT | c.525G>T (p.Gly175=) c.208G>T n.358G>T c.456G>T (p.Gly152=) c.210G>T (p.Gly70=) | gnomAD v4 |
19 | g.1398961C>G | CA504895098 | GAMT | c.525G>C (p.Gly175=) c.208G>C n.358G>C c.456G>C (p.Gly152=) c.210G>C (p.Gly70=) | ClinVar dbSNP |
19 | g.1398961C>T | CA504895095 | GAMT | c.525G>A (p.Gly175=) c.208G>A n.358G>A c.456G>A (p.Gly152=) c.210G>A (p.Gly70=) | ClinVar dbSNP |
19 | g.1398962C>A | CA402994343 | GAMT | c.524G>T (p.Gly175Val) c.207G>T n.357G>T c.455G>T (p.Gly152Val) c.209G>T (p.Gly70Val) | |
19 | g.1398962C= | CA2317699008 | GAMT | c.524G= (p.Gly175=) c.207G= n.357G= c.455G= (p.Gly152=) c.209G= (p.Gly70=) | |
19 | g.1398962C>G | CA402994344 | GAMT | c.524G>C (p.Gly175Ala) c.207G>C n.357G>C c.455G>C (p.Gly152Ala) c.209G>C (p.Gly70Ala) | |
19 | g.1398962C>T | CA402994348 | GAMT | c.524G>A (p.Gly175Glu) c.207G>A n.357G>A c.455G>A (p.Gly152Glu) c.209G>A (p.Gly70Glu) | dbSNP COSMIC COSMIC |
19 | g.1398963C>A | CA402994349 | GAMT | c.523G>T (p.Gly175Trp) c.206G>T n.356G>T c.454G>T (p.Gly152Trp) c.208G>T (p.Gly70Trp) | ClinVar dbSNP |
19 | g.1398963C= | CA2317699009 | GAMT | c.523G= (p.Gly175=) c.206G= n.356G= c.454G= (p.Gly152=) c.208G= (p.Gly70=) | |
19 | g.1398963C>G | CA314814 | GAMT | c.523G>C (p.Gly175Arg) c.206G>C n.356G>C c.454G>C (p.Gly152Arg) c.208G>C (p.Gly70Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1398963C>T | CA9043616 | GAMT | c.523G>A (p.Gly175Arg) c.206G>A n.356G>A c.454G>A (p.Gly152Arg) c.208G>A (p.Gly70Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1398964C>A | CA402994362 | GAMT | c.522G>T (p.Trp174Cys) c.205G>T n.355G>T c.453G>T (p.Trp151Cys) c.207G>T (p.Trp69Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1398964C= | CA2317699010 | GAMT | c.522G= (p.Trp174=) c.205G= n.355G= c.453G= (p.Trp151=) c.207G= (p.Trp69=) | |
19 | g.1398964C>G | CA402994365 | GAMT | c.522G>C (p.Trp174Cys) c.205G>C n.355G>C c.453G>C (p.Trp151Cys) c.207G>C (p.Trp69Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398964C>T | CA314812 | GAMT | c.522G>A (p.Trp174Ter) c.205G>A n.355G>A c.453G>A (p.Trp151Ter) c.207G>A (p.Trp69Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398965C>A | CA9043618 | GAMT | c.521G>T (p.Trp174Leu) c.204G>T n.354G>T c.452G>T (p.Trp151Leu) c.206G>T (p.Trp69Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398965C= | CA2317699011 | GAMT | c.521G= (p.Trp174=) c.204G= n.354G= c.452G= (p.Trp151=) c.206G= (p.Trp69=) | |
19 | g.1398965C>G | CA402994371 | GAMT | c.521G>C (p.Trp174Ser) c.204G>C n.354G>C c.452G>C (p.Trp151Ser) c.206G>C (p.Trp69Ser) | |
19 | g.1398965C>T | CA9043619 | GAMT | c.521G>A (p.Trp174Ter) c.204G>A n.354G>A c.452G>A (p.Trp151Ter) c.206G>A (p.Trp69Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398970_1398971insATGAGGTTGCAGGAG | CA2576548646 | GAMT | c.521_522insCAACCTCATCTCCTG (p.Ser173_Trp174insCysAsnLeuIleSer) c.204_205insCAACCTCATCTCCTG n.354_355insCAACCTCATCTCCTG c.452_453insCAACCTCATCTCCTG (p.Ser150_Trp151insCysAsnLeuIleSer) c.206_207insCAACCTCATCTCCTG (p.Ser68_Trp69insCysAsnLeuIleSer) | gnomAD v4 |
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.1398966A= | CA2317699012 | GAMT | c.520T= (p.Trp174=) c.203T= n.353T= c.451T= (p.Trp151=) c.205T= (p.Trp69=) | |
19 | g.1398966A>C | CA402994377 | GAMT | c.520T>G (p.Trp174Gly) c.203T>G n.353T>G c.451T>G (p.Trp151Gly) c.205T>G (p.Trp69Gly) | |
19 | g.1398966A>G | CA304065950 | GAMT | c.520T>C (p.Trp174Arg) c.203T>C n.353T>C c.451T>C (p.Trp151Arg) c.205T>C (p.Trp69Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.1398966A>T | CA402994393 | GAMT | c.520T>A (p.Trp174Arg) c.203T>A n.353T>A c.451T>A (p.Trp151Arg) c.205T>A (p.Trp69Arg) | dbSNP |
19 | g.1398969_1398971del | CA2570803087 | GAMT | c.518_520del (p.Ser173del) c.201_203del n.351_353del c.449_451del (p.Ser150del) c.203_205del (p.Ser68del) | |
19 | g.1398967G>A | CA504895104 | GAMT | c.519C>T (p.Ser173=) c.202C>T n.352C>T c.450C>T (p.Ser150=) c.204C>T (p.Ser68=) | ClinVar gnomAD v4 |
19 | g.1398967G>C | CA504895105 | GAMT | c.519C>G (p.Ser173=) c.202C>G n.352C>G c.450C>G (p.Ser150=) c.204C>G (p.Ser68=) | |
19 | g.1398967G>T | CA504895106 | GAMT | c.519C>A (p.Ser173=) c.202C>A n.352C>A c.450C>A (p.Ser150=) c.204C>A (p.Ser68=) | |
19 | g.1398968G>A | CA402994401 | GAMT | c.518C>T (p.Ser173Phe) c.201C>T n.351C>T c.449C>T (p.Ser150Phe) c.203C>T (p.Ser68Phe) | ClinVar dbSNP COSMIC COSMIC |
19 | g.1398968G>C | CA402994405 | GAMT | c.518C>G (p.Ser173Cys) c.201C>G n.351C>G c.449C>G (p.Ser150Cys) c.203C>G (p.Ser68Cys) | |
19 | g.1398968G>T | CA402994407 | GAMT | c.518C>A (p.Ser173Tyr) c.201C>A n.351C>A c.449C>A (p.Ser150Tyr) c.203C>A (p.Ser68Tyr) | |
19 | g.1398969A= | CA2317699013 | GAMT | c.517T= (p.Ser173=) c.200T= n.350T= c.448T= (p.Ser150=) c.202T= (p.Ser68=) | |
19 | g.1398969A>C | CA402994408 | GAMT | c.517T>G (p.Ser173Ala) c.200T>G n.350T>G c.448T>G (p.Ser150Ala) c.202T>G (p.Ser68Ala) | |
19 | g.1398969A>G | CA402994410 | GAMT | c.517T>C (p.Ser173Pro) c.200T>C n.350T>C c.448T>C (p.Ser150Pro) c.202T>C (p.Ser68Pro) | |
19 | g.1398969A>T | CA304065958 | GAMT | c.517T>A (p.Ser173Thr) c.200T>A n.350T>A c.448T>A (p.Ser150Thr) c.202T>A (p.Ser68Thr) | dbSNP 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.1398970G>A | CA504895113 | GAMT | c.516C>T (p.Thr172=) c.199C>T n.349C>T c.447C>T (p.Thr149=) c.201C>T (p.Thr67=) | ClinVar dbSNP |
19 | g.1398970G>C | CA504895114 | GAMT | c.516C>G (p.Thr172=) c.199C>G n.349C>G c.447C>G (p.Thr149=) c.201C>G (p.Thr67=) | |
19 | g.1398970G>T | CA504895115 | GAMT | c.516C>A (p.Thr172=) c.199C>A n.349C>A c.447C>A (p.Thr149=) c.201C>A (p.Thr67=) | ClinVar dbSNP gnomAD v4 |
19 | g.1398971G>A | CA9043620 | GAMT | c.515C>T (p.Thr172Ile) c.198C>T n.348C>T c.446C>T (p.Thr149Ile) c.200C>T (p.Thr67Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398971G>C | CA402994422 | GAMT | c.515C>G (p.Thr172Ser) c.198C>G n.348C>G c.446C>G (p.Thr149Ser) c.200C>G (p.Thr67Ser) | |
19 | g.1398971G= | CA2317699014 | GAMT | c.515C= (p.Thr172=) c.198C= n.348C= c.446C= (p.Thr149=) c.200C= (p.Thr67=) | |
19 | g.1398971G>T | CA402994416 | GAMT | c.515C>A (p.Thr172Asn) c.198C>A n.348C>A c.446C>A (p.Thr149Asn) c.200C>A (p.Thr67Asn) | gnomAD v4 |
19 | g.1398972T>A | CA402994439 | GAMT | c.514A>T (p.Thr172Ser) c.197A>T n.347A>T c.445A>T (p.Thr149Ser) c.199A>T (p.Thr67Ser) | |
19 | g.1398972T>C | CA402994442 | GAMT | c.514A>G (p.Thr172Ala) c.197A>G n.347A>G c.445A>G (p.Thr149Ala) c.199A>G (p.Thr67Ala) | gnomAD v4 |
19 | g.1398972T>G | CA402994446 | GAMT | c.514A>C (p.Thr172Pro) c.197A>C n.347A>C c.445A>C (p.Thr149Pro) c.199A>C (p.Thr67Pro) | |
19 | g.1398973G>A | CA504895121 | GAMT | c.513C>T (p.Leu171=) c.196C>T n.346C>T c.444C>T (p.Leu148=) c.198C>T (p.Leu66=) | ClinVar dbSNP gnomAD v4 |
19 | g.1398973G>C | CA504895122 | GAMT | c.513C>G (p.Leu171=) c.196C>G n.346C>G c.444C>G (p.Leu148=) c.198C>G (p.Leu66=) | |
19 | g.1398973G= | CA2317699015 | GAMT | c.513C= (p.Leu171=) c.196C= n.346C= c.444C= (p.Leu148=) c.198C= (p.Leu66=) | |
19 | g.1398973G>T | CA9043621 | GAMT | c.513C>A (p.Leu171=) c.196C>A n.346C>A c.444C>A (p.Leu148=) c.198C>A (p.Leu66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398974A>C | CA402994467 | GAMT | c.512T>G (p.Leu171Arg) c.195T>G n.345T>G c.443T>G (p.Leu148Arg) c.197T>G (p.Leu66Arg) | |
19 | g.1398974A>G | CA402994470 | GAMT | c.512T>C (p.Leu171Pro) c.195T>C n.345T>C c.443T>C (p.Leu148Pro) c.197T>C (p.Leu66Pro) | |
19 | g.1398974A>T | CA402994473 | GAMT | c.512T>A (p.Leu171His) c.195T>A n.345T>A c.443T>A (p.Leu148His) c.197T>A (p.Leu66His) | |
19 | g.1398975G>A | CA402994476 | GAMT | c.511C>T (p.Leu171Phe) c.194C>T n.344C>T c.442C>T (p.Leu148Phe) c.196C>T (p.Leu66Phe) | |
19 | g.1398975G>C | CA314810 | GAMT | c.511C>G (p.Leu171Val) c.194C>G n.344C>G c.442C>G (p.Leu148Val) c.196C>G (p.Leu66Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1398975G= | CA2317699016 | GAMT | c.511C= (p.Leu171=) c.194C= n.344C= c.442C= (p.Leu148=) c.196C= (p.Leu66=) | |
19 | g.1398975G>T | CA402994488 | GAMT | c.511C>A (p.Leu171Ile) c.194C>A n.344C>A c.442C>A (p.Leu148Ile) c.196C>A (p.Leu66Ile) | |
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.1398976G>A | CA504895129 | GAMT | c.510C>T (p.Asn170=) c.193C>T n.343C>T c.441C>T (p.Asn147=) c.195C>T (p.Asn65=) | gnomAD v4 |
19 | g.1398976G>C | CA402994499 | GAMT | c.510C>G (p.Asn170Lys) c.193C>G n.343C>G c.441C>G (p.Asn147Lys) c.195C>G (p.Asn65Lys) | |
19 | g.1398976G>T | CA402994496 | GAMT | c.510C>A (p.Asn170Lys) c.193C>A n.343C>A c.441C>A (p.Asn147Lys) c.195C>A (p.Asn65Lys) | |
19 | g.1398977T>A | CA402994501 | GAMT | c.509A>T (p.Asn170Ile) c.192A>T n.342A>T c.440A>T (p.Asn147Ile) c.194A>T (p.Asn65Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1398977T>C | CA9043622 | GAMT | c.509A>G (p.Asn170Ser) c.192A>G n.342A>G c.440A>G (p.Asn147Ser) c.194A>G (p.Asn65Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398977T>G | CA9043623 | GAMT | c.509A>C (p.Asn170Thr) c.192A>C n.342A>C c.440A>C (p.Asn147Thr) c.194A>C (p.Asn65Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1398977T= | CA2317699017 | GAMT | c.509A= (p.Asn170=) c.192A= n.342A= c.440A= (p.Asn147=) c.194A= (p.Asn65=) | |
19 | g.1398978T>A | CA402994503 | GAMT | c.508A>T (p.Asn170Tyr) c.191A>T n.341A>T c.439A>T (p.Asn147Tyr) c.193A>T (p.Asn65Tyr) | |
19 | g.1398978T>C | CA402994506 | GAMT | c.508A>G (p.Asn170Asp) c.191A>G n.341A>G c.439A>G (p.Asn147Asp) c.193A>G (p.Asn65Asp) | COSMIC COSMIC |
19 | g.1398978T>G | CA402994509 | GAMT | c.508A>C (p.Asn170His) c.191A>C n.341A>C c.439A>C (p.Asn147His) c.193A>C (p.Asn65His) | |
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 |