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