| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |