| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1399100C= | CA2317699093 | GAMT | c.459+28G= (n.459+28G=) c.142+28G= n.292+28G= c.390+28G= (n.390+28G=) c.144+28G= (n.144+28G=) | |
| 19 | g.1399100C>G | CA631044729 | GAMT | c.459+28G>C (n.459+28G>C) c.142+28G>C n.292+28G>C c.390+28G>C (n.390+28G>C) c.144+28G>C (n.144+28G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399100C>T | CA9043653 | GAMT | c.459+28G>A (n.459+28G>A) c.142+28G>A n.292+28G>A c.390+28G>A (n.390+28G>A) c.144+28G>A (n.144+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399101G>A | CA2317699095 | GAMT | c.459+27C>T (n.459+27C>T) c.142+27C>T n.292+27C>T c.390+27C>T (n.390+27C>T) c.144+27C>T (n.144+27C>T) | dbSNP gnomAD v4 |
| 19 | g.1399101G>C | CA631044730 | GAMT | c.459+27C>G (n.459+27C>G) c.142+27C>G n.292+27C>G c.390+27C>G (n.390+27C>G) c.144+27C>G (n.144+27C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399101G= | CA2317699096 | GAMT | c.459+27C= (n.459+27C=) c.142+27C= n.292+27C= c.390+27C= (n.390+27C=) c.144+27C= (n.144+27C=) | |
| 19 | g.1399101G>T | CA9043654 | GAMT | c.459+27C>A (n.459+27C>A) c.142+27C>A n.292+27C>A c.390+27C>A (n.390+27C>A) c.144+27C>A (n.144+27C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399101_1399102delinsGC | CA2317699094 | GAMT | c.459+26_459+27delinsGC (n.459+26_459+27delinsGC) c.142+26_142+27delinsGC n.292+26_292+27delinsGC c.390+26_390+27delinsGC (n.390+26_390+27delinsGC) c.144+26_144+27delinsGC (n.144+26_144+27delinsGC) | |
| 19 | g.1399102del | CA631044731 | GAMT | c.459+26del (n.459+26del) c.142+26del n.292+26del c.390+26del (n.390+26del) c.144+26del (n.144+26del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399102C>A | CA304066054 | GAMT | c.459+26G>T (n.459+26G>T) c.142+26G>T n.292+26G>T c.390+26G>T (n.390+26G>T) c.144+26G>T (n.144+26G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399102C= | CA2317699097 | GAMT | c.459+26G= (n.459+26G=) c.142+26G= n.292+26G= c.390+26G= (n.390+26G=) c.144+26G= (n.144+26G=) | |
| 19 | g.1399103dup | CA2582641093 | GAMT | c.459+25dup (n.459+25dup) c.142+25dup n.292+25dup c.390+25dup (n.390+25dup) c.144+25dup (n.144+25dup) | gnomAD v4 |
| 19 | g.1399107C= | CA2317699098 | GAMT | c.459+21G= (n.459+21G=) c.142+21G= n.292+21G= c.390+21G= (n.390+21G=) c.144+21G= (n.144+21G=) | |
| 19 | g.1399107C>T | CA9043655 | GAMT | c.459+21G>A (n.459+21G>A) c.142+21G>A n.292+21G>A c.390+21G>A (n.390+21G>A) c.144+21G>A (n.144+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399109G>A | CA992513677 | GAMT | c.459+19C>T (n.459+19C>T) c.142+19C>T n.292+19C>T c.390+19C>T (n.390+19C>T) c.144+19C>T (n.144+19C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1399109G= | CA2317699099 | GAMT | c.459+19C= (n.459+19C=) c.142+19C= n.292+19C= c.390+19C= (n.390+19C=) c.144+19C= (n.144+19C=) | |
| 19 | g.1399109G>T | CA2582641094 | GAMT | c.459+19C>A (n.459+19C>A) c.142+19C>A n.292+19C>A c.390+19C>A (n.390+19C>A) c.144+19C>A (n.144+19C>A) | gnomAD v4 |
| 19 | g.1399110C>T | CA2582641095 | GAMT | c.459+18G>A (n.459+18G>A) c.142+18G>A n.292+18G>A c.390+18G>A (n.390+18G>A) c.144+18G>A (n.144+18G>A) | gnomAD v4 |
| 19 | g.1399111A= | CA2317699100 | GAMT | c.459+17T= (n.459+17T=) c.142+17T= n.292+17T= c.390+17T= (n.390+17T=) c.144+17T= (n.144+17T=) | |
| 19 | g.1399111A>G | CA16608094 | GAMT | c.459+17T>C (n.459+17T>C) c.142+17T>C n.292+17T>C c.390+17T>C (n.390+17T>C) c.144+17T>C (n.144+17T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1399113G>A | CA9043656 | GAMT | c.459+15C>T (n.459+15C>T) c.142+15C>T n.292+15C>T c.390+15C>T (n.390+15C>T) c.144+15C>T (n.144+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399113G= | CA2317699101 | GAMT | c.459+15C= (n.459+15C=) c.142+15C= n.292+15C= c.390+15C= (n.390+15C=) c.144+15C= (n.144+15C=) | |
| 19 | g.1399115C>A | CA2582641096 | GAMT | c.459+13G>T (n.459+13G>T) c.142+13G>T n.292+13G>T c.390+13G>T (n.390+13G>T) c.144+13G>T (n.144+13G>T) | gnomAD v4 |
| 19 | g.1399115C= | CA2317699103 | GAMT | c.459+13G= (n.459+13G=) c.142+13G= n.292+13G= c.390+13G= (n.390+13G=) c.144+13G= (n.144+13G=) | |
| 19 | g.1399115_1399119delinsCAGAG | CA2317699102 | GAMT | c.459+9_459+13delinsCTCTG (n.459+9_459+13delinsCTCTG) c.142+9_142+13delinsCTCTG n.292+9_292+13delinsCTCTG c.390+9_390+13delinsCTCTG (n.390+9_390+13delinsCTCTG) c.144+9_144+13delinsCTCTG (n.144+9_144+13delinsCTCTG) | |
| 19 | g.1399116A>G | CA2582641097 | GAMT | c.459+12T>C (n.459+12T>C) c.142+12T>C n.292+12T>C c.390+12T>C (n.390+12T>C) c.144+12T>C (n.144+12T>C) | gnomAD v4 |
| 19 | g.1399116dup | CA631044732 | GAMT | c.459+12dup (n.459+12dup) c.142+12dup n.292+12dup c.390+12dup (n.390+12dup) c.144+12dup (n.144+12dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399119_1399122del | CA9043657 | GAMT | c.459+9_459+12del (n.459+9_459+12del) c.142+9_142+12del n.292+9_292+12del c.390+9_390+12del (n.390+9_390+12del) c.144+9_144+12del (n.144+9_144+12del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399117G>A | CA2739276351 | GAMT | c.459+11C>T (n.459+11C>T) c.142+11C>T n.292+11C>T c.390+11C>T (n.390+11C>T) c.144+11C>T (n.144+11C>T) | ClinVar |
| 19 | g.1399120A>G | CA2573155790 | GAMT | c.459+8T>C (n.459+8T>C) c.142+8T>C n.292+8T>C c.390+8T>C (n.390+8T>C) c.144+8T>C (n.144+8T>C) | ClinVar dbSNP |
| 19 | g.1399121G>A | CA2582641098 | GAMT | c.459+7C>T (n.459+7C>T) c.142+7C>T n.292+7C>T c.390+7C>T (n.390+7C>T) c.144+7C>T (n.144+7C>T) | gnomAD v4 |
| 19 | g.1399123A>G | CA2576548657 | GAMT | c.459+5T>C (n.459+5T>C) c.142+5T>C n.292+5T>C c.390+5T>C (n.390+5T>C) c.144+5T>C (n.144+5T>C) | |
| 19 | g.1399125C>A | CA2573155791 | GAMT | c.459+3G>T (n.459+3G>T) c.142+3G>T n.292+3G>T c.390+3G>T (n.390+3G>T) c.144+3G>T (n.144+3G>T) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399125C= | CA2317699104 | GAMT | c.459+3G= (n.459+3G=) c.142+3G= n.292+3G= c.390+3G= (n.390+3G=) c.144+3G= (n.144+3G=) | |
| 19 | g.1399125C>T | CA9043658 | GAMT | c.459+3G>A (n.459+3G>A) c.142+3G>A n.292+3G>A c.390+3G>A (n.390+3G>A) c.144+3G>A (n.144+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399126A>C | CA402994869 | GAMT | c.459+2T>G (n.459+2T>G) c.142+2T>G n.292+2T>G c.390+2T>G (n.390+2T>G) c.144+2T>G (n.144+2T>G) | |
| 19 | g.1399126A>G | CA402994872 | GAMT | c.459+2T>C (n.459+2T>C) c.142+2T>C n.292+2T>C c.390+2T>C (n.390+2T>C) c.144+2T>C (n.144+2T>C) | |
| 19 | g.1399126A>T | CA402994877 | GAMT | c.459+2T>A (n.459+2T>A) c.142+2T>A n.292+2T>A c.390+2T>A (n.390+2T>A) c.144+2T>A (n.144+2T>A) | |
| 19 | g.1399127C>A | CA402994880 | GAMT | c.459+1G>T (n.459+1G>T) c.142+1G>T n.292+1G>T c.390+1G>T (n.390+1G>T) c.144+1G>T (n.144+1G>T) | |
| 19 | g.1399127C= | CA2317699105 | GAMT | c.459+1G= (n.459+1G=) c.142+1G= n.292+1G= c.390+1G= (n.390+1G=) c.144+1G= (n.144+1G=) | |
| 19 | g.1399127C>G | CA304066069 | GAMT | c.459+1G>C (n.459+1G>C) c.142+1G>C n.292+1G>C c.390+1G>C (n.390+1G>C) c.144+1G>C (n.144+1G>C) | dbSNP |
| 19 | g.1399127C>T | CA304066072 | GAMT | c.459+1G>A (n.459+1G>A) c.142+1G>A n.292+1G>A c.390+1G>A (n.390+1G>A) c.144+1G>A (n.144+1G>A) | ClinVar dbSNP |
| 19 | g.1399128C>A | CA402994893 | GAMT | c.459G>T (p.Lys153Asn) c.142G>T n.292G>T c.390G>T (p.Lys130Asn) c.144G>T (p.Lys48Asn) | |
| 19 | g.1399128C>G | CA402994896 | GAMT | c.459G>C (p.Lys153Asn) c.142G>C n.292G>C c.390G>C (p.Lys130Asn) c.144G>C (p.Lys48Asn) | |
| 19 | g.1399128C>T | CA504730057 | GAMT | c.459G>A (p.Lys153=) c.142G>A n.292G>A c.390G>A (p.Lys130=) c.144G>A (p.Lys48=) | |
| 19 | g.1399129T>A | CA402994900 | GAMT | c.458A>T (p.Lys153Met) c.141A>T n.291A>T c.389A>T (p.Lys130Met) c.143A>T (p.Lys48Met) | |
| 19 | g.1399129T>C | CA402994903 | GAMT | c.458A>G (p.Lys153Arg) c.141A>G n.291A>G c.389A>G (p.Lys130Arg) c.143A>G (p.Lys48Arg) | gnomAD v4 |
| 19 | g.1399129T>G | CA402994907 | GAMT | c.458A>C (p.Lys153Thr) c.141A>C n.291A>C c.389A>C (p.Lys130Thr) c.143A>C (p.Lys48Thr) | |
| 19 | g.1399130T>A | CA402994914 | GAMT | c.457A>T (p.Lys153Ter) c.140A>T n.290A>T c.388A>T (p.Lys130Ter) c.142A>T (p.Lys48Ter) | gnomAD v4 |
| 19 | g.1399130T>C | CA402994925 | GAMT | c.457A>G (p.Lys153Glu) c.140A>G n.290A>G c.388A>G (p.Lys130Glu) c.142A>G (p.Lys48Glu) | gnomAD v4 COSMIC COSMIC |
| 19 | g.1399130T>G | CA402994912 | GAMT | c.457A>C (p.Lys153Gln) c.140A>C n.290A>C c.388A>C (p.Lys130Gln) c.142A>C (p.Lys48Gln) | dbSNP |
| 19 | g.1399130T= | CA2317699106 | GAMT | c.457A= (p.Lys153=) c.140A= n.290A= c.388A= (p.Lys130=) c.142A= (p.Lys48=) | |
| 19 | g.1399131G>A | CA504730060 | GAMT | c.456C>T (p.Ile152=) c.139C>T n.289C>T c.387C>T (p.Ile129=) c.141C>T (p.Ile47=) | |
| 19 | g.1399131G>C | CA402994927 | GAMT | c.456C>G (p.Ile152Met) c.139C>G n.289C>G c.387C>G (p.Ile129Met) c.141C>G (p.Ile47Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399131G= | CA2317699107 | GAMT | c.456C= (p.Ile152=) c.139C= n.289C= c.387C= (p.Ile129=) c.141C= (p.Ile47=) | |
| 19 | g.1399131G>T | CA504730061 | GAMT | c.456C>A (p.Ile152=) c.139C>A n.289C>A c.387C>A (p.Ile129=) c.141C>A (p.Ile47=) | ClinVar dbSNP |
| 19 | g.1399132A= | CA2317699108 | GAMT | c.455T= (p.Ile152=) c.138T= n.288T= c.386T= (p.Ile129=) c.140T= (p.Ile47=) | |
| 19 | g.1399132A>C | CA402994936 | GAMT | c.455T>G (p.Ile152Ser) c.138T>G n.288T>G c.386T>G (p.Ile129Ser) c.140T>G (p.Ile47Ser) | |
| 19 | g.1399132A>G | CA402994930 | GAMT | c.455T>C (p.Ile152Thr) c.138T>C n.288T>C c.386T>C (p.Ile129Thr) c.140T>C (p.Ile47Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399132A>T | CA402994934 | GAMT | c.455T>A (p.Ile152Asn) c.138T>A n.288T>A c.386T>A (p.Ile129Asn) c.140T>A (p.Ile47Asn) | |
| 19 | g.1399133T>A | CA402994939 | GAMT | c.454A>T (p.Ile152Phe) c.137A>T n.287A>T c.385A>T (p.Ile129Phe) c.139A>T (p.Ile47Phe) | |
| 19 | g.1399133T>C | CA402994942 | GAMT | c.454A>G (p.Ile152Val) c.137A>G n.287A>G c.385A>G (p.Ile129Val) c.139A>G (p.Ile47Val) | |
| 19 | g.1399133T>G | CA402994944 | GAMT | c.454A>C (p.Ile152Leu) c.137A>C n.287A>C c.385A>C (p.Ile129Leu) c.139A>C (p.Ile47Leu) | |
| 19 | g.1399134G>A | CA504730064 | GAMT | c.453C>T (p.Phe151=) c.136C>T n.286C>T c.384C>T (p.Phe128=) c.138C>T (p.Phe46=) | |
| 19 | g.1399134G>C | CA402994948 | GAMT | c.453C>G (p.Phe151Leu) c.136C>G n.286C>G c.384C>G (p.Phe128Leu) c.138C>G (p.Phe46Leu) | |
| 19 | g.1399134G>T | CA402994951 | GAMT | c.453C>A (p.Phe151Leu) c.136C>A n.286C>A c.384C>A (p.Phe128Leu) c.138C>A (p.Phe46Leu) | |
| 19 | g.1399134_1399135delinsGA | CA2317699109 | GAMT | c.452_453delinsTC (p.Phe151=) c.135_136delinsTC n.285_286delinsTC c.383_384delinsTC (p.Phe128=) c.137_138delinsTC (p.Phe46=) | |
| 19 | g.1399135A>C | CA402994961 | GAMT | c.452T>G (p.Phe151Cys) c.135T>G n.285T>G c.383T>G (p.Phe128Cys) c.137T>G (p.Phe46Cys) | |
| 19 | g.1399135A>G | CA402994954 | GAMT | c.452T>C (p.Phe151Ser) c.135T>C n.285T>C c.383T>C (p.Phe128Ser) c.137T>C (p.Phe46Ser) | |
| 19 | g.1399135A>T | CA402994957 | GAMT | c.452T>A (p.Phe151Tyr) c.135T>A n.285T>A c.383T>A (p.Phe128Tyr) c.137T>A (p.Phe46Tyr) | |
| 19 | g.1399136del | CA631044733 | GAMT | c.452del (p.Phe151SerfsTer10) c.135del n.285del c.383del (p.Phe128SerfsTer10) c.137del (p.Phe46SerfsTer10) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399136A>C | CA402994963 | GAMT | c.451T>G (p.Phe151Val) c.134T>G n.284T>G c.382T>G (p.Phe128Val) c.136T>G (p.Phe46Val) | gnomAD v4 |
| 19 | g.1399136A>G | CA402994969 | GAMT | c.451T>C (p.Phe151Leu) c.134T>C n.284T>C c.382T>C (p.Phe128Leu) c.136T>C (p.Phe46Leu) | |
| 19 | g.1399136A>T | CA402994970 | GAMT | c.451T>A (p.Phe151Ile) c.134T>A n.284T>A c.382T>A (p.Phe128Ile) c.136T>A (p.Phe46Ile) | |
| 19 | g.1399137G>A | CA504730067 | GAMT | c.450C>T (p.Asn150=) c.133C>T n.283C>T c.381C>T (p.Asn127=) c.135C>T (p.Asn45=) | |
| 19 | g.1399137G>C | CA402994972 | GAMT | c.450C>G (p.Asn150Lys) c.133C>G n.283C>G c.381C>G (p.Asn127Lys) c.135C>G (p.Asn45Lys) | |
| 19 | g.1399137G>T | CA402994974 | GAMT | c.450C>A (p.Asn150Lys) c.133C>A n.283C>A c.381C>A (p.Asn127Lys) c.135C>A (p.Asn45Lys) | |
| 19 | g.1399138T>A | CA402994981 | GAMT | c.449A>T (p.Asn150Ile) c.132A>T n.282A>T c.380A>T (p.Asn127Ile) c.134A>T (p.Asn45Ile) | |
| 19 | g.1399138T>C | CA9043659 | GAMT | c.449A>G (p.Asn150Ser) c.132A>G n.282A>G c.380A>G (p.Asn127Ser) c.134A>G (p.Asn45Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399138T>G | CA402994988 | GAMT | c.449A>C (p.Asn150Thr) c.132A>C n.282A>C c.380A>C (p.Asn127Thr) c.134A>C (p.Asn45Thr) | |
| 19 | g.1399138T= | CA2317699110 | GAMT | c.449A= (p.Asn150=) c.132A= n.282A= c.380A= (p.Asn127=) c.134A= (p.Asn45=) | |
| 19 | g.1399139T>A | CA402994989 | GAMT | c.448A>T (p.Asn150Tyr) c.131A>T n.281A>T c.379A>T (p.Asn127Tyr) c.133A>T (p.Asn45Tyr) | |
| 19 | g.1399139T>C | CA402994990 | GAMT | c.448A>G (p.Asn150Asp) c.131A>G n.281A>G c.379A>G (p.Asn127Asp) c.133A>G (p.Asn45Asp) | |
| 19 | g.1399139T>G | CA402994994 | GAMT | c.448A>C (p.Asn150His) c.131A>C n.281A>C c.379A>C (p.Asn127His) c.133A>C (p.Asn45His) | |
| 19 | g.1399141_1399145del | CA2739276352 | GAMT | c.444_448del (p.Phe149LeufsTer?) c.127_131del n.277_281del c.375_379del (p.Phe126LeufsTer?) c.129_133del (p.Phe44LeufsTer?) | ClinVar |
| 19 | g.1399140G>A | CA504730072 | GAMT | c.447C>T (p.Phe149=) c.130C>T n.280C>T c.378C>T (p.Phe126=) c.132C>T (p.Phe44=) | dbSNP |
| 19 | g.1399140G>C | CA402995006 | GAMT | c.447C>G (p.Phe149Leu) c.130C>G n.280C>G c.378C>G (p.Phe126Leu) c.132C>G (p.Phe44Leu) | |
| 19 | g.1399140G= | CA2317699111 | GAMT | c.447C= (p.Phe149=) c.130C= n.280C= c.378C= (p.Phe126=) c.132C= (p.Phe44=) | |
| 19 | g.1399140G>T | CA402995011 | GAMT | c.447C>A (p.Phe149Leu) c.130C>A n.280C>A c.378C>A (p.Phe126Leu) c.132C>A (p.Phe44Leu) | |
| 19 | g.1399141A>C | CA402995024 | GAMT | c.446T>G (p.Phe149Cys) c.129T>G n.279T>G c.377T>G (p.Phe126Cys) c.131T>G (p.Phe44Cys) | |
| 19 | g.1399141A>G | CA402995026 | GAMT | c.446T>C (p.Phe149Ser) c.129T>C n.279T>C c.377T>C (p.Phe126Ser) c.131T>C (p.Phe44Ser) | |
| 19 | g.1399141A>T | CA402995030 | GAMT | c.446T>A (p.Phe149Tyr) c.129T>A n.279T>A c.377T>A (p.Phe126Tyr) c.131T>A (p.Phe44Tyr) | |
| 19 | g.1399142A>C | CA402995033 | GAMT | c.445T>G (p.Phe149Val) c.128T>G n.278T>G c.376T>G (p.Phe126Val) c.130T>G (p.Phe44Val) | |
| 19 | g.1399142A>G | CA402995034 | GAMT | c.445T>C (p.Phe149Leu) c.128T>C n.278T>C c.376T>C (p.Phe126Leu) c.130T>C (p.Phe44Leu) | |
| 19 | g.1399142A>T | CA402995035 | GAMT | c.445T>A (p.Phe149Ile) c.128T>A n.278T>A c.376T>A (p.Phe126Ile) c.130T>A (p.Phe44Ile) | |
| 19 | g.1399142_1399145delinsACTG | CA2317699112 | GAMT | c.442_445delinsCAGT (p.Gln148=) c.125_128delinsCAGT n.275_278delinsCAGT c.373_376delinsCAGT (p.Gln125=) c.127_130delinsCAGT (p.Gln43=) | |
| 19 | g.1399143C>A | CA402995036 | GAMT | c.444G>T (p.Gln148His) c.127G>T n.277G>T c.375G>T (p.Gln125His) c.129G>T (p.Gln43His) | |
| 19 | g.1399143C>G | CA402995037 | GAMT | c.444G>C (p.Gln148His) c.127G>C n.277G>C c.375G>C (p.Gln125His) c.129G>C (p.Gln43His) | |
| 19 | g.1399143C>T | CA504730077 | GAMT | c.444G>A (p.Gln148=) c.127G>A n.277G>A c.375G>A (p.Gln125=) c.129G>A (p.Gln43=) | |
| 19 | g.1399143_1399145del | CA9043660 | GAMT | c.442_444del (p.Gln148del) c.125_127del n.275_277del c.373_375del (p.Gln125del) c.127_129del (p.Gln43del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399144T>A | CA402995038 | GAMT | c.443A>T (p.Gln148Leu) c.126A>T n.276A>T c.374A>T (p.Gln125Leu) c.128A>T (p.Gln43Leu) | |
| 19 | g.1399144T>C | CA402995039 | GAMT | c.443A>G (p.Gln148Arg) c.126A>G n.276A>G c.374A>G (p.Gln125Arg) c.128A>G (p.Gln43Arg) | |
| 19 | g.1399144T>G | CA402995042 | GAMT | c.443A>C (p.Gln148Pro) c.126A>C n.276A>C c.374A>C (p.Gln125Pro) c.128A>C (p.Gln43Pro) | gnomAD v4 |
| 19 | g.1399144T= | CA2317699113 | GAMT | c.443A= (p.Gln148=) c.126A= n.276A= c.374A= (p.Gln125=) c.128A= (p.Gln43=) | |
| 19 | g.1399145G>A | CA402995050 | GAMT | c.442C>T (p.Gln148Ter) c.125C>T n.275C>T c.373C>T (p.Gln125Ter) c.127C>T (p.Gln43Ter) | ClinVar |
| 19 | g.1399145G>C | CA402995059 | GAMT | c.442C>G (p.Gln148Glu) c.125C>G n.275C>G c.373C>G (p.Gln125Glu) c.127C>G (p.Gln43Glu) | |
| 19 | g.1399145G>T | CA402995062 | GAMT | c.442C>A (p.Gln148Lys) c.125C>A n.275C>A c.373C>A (p.Gln125Lys) c.127C>A (p.Gln43Lys) | |
| 19 | g.1399146dup | CA1139666168 | GAMT | c.442dup (p.Gln148ProfsTer?) c.125dup n.275dup c.373dup (p.Gln125ProfsTer?) c.127dup (p.Gln43ProfsTer?) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399145_1399147delinsGGT | CA2317699114 | GAMT | c.440_442delinsACC (p.His147=) c.123_125delinsACC n.273_275delinsACC c.371_373delinsACC (p.His124=) c.125_127delinsACC (p.His42=) | |
| 19 | g.1399146G>A | CA504730082 | GAMT | c.441C>T (p.His147=) c.124C>T n.274C>T c.372C>T (p.His124=) c.126C>T (p.His42=) | |
| 19 | g.1399146G>C | CA402995066 | GAMT | c.441C>G (p.His147Gln) c.124C>G n.274C>G c.372C>G (p.His124Gln) c.126C>G (p.His42Gln) | dbSNP |
| 19 | g.1399146G= | CA2317699115 | GAMT | c.441C= (p.His147=) c.124C= n.274C= c.372C= (p.His124=) c.126C= (p.His42=) | |
| 19 | g.1399146G>T | CA402995067 | GAMT | c.441C>A (p.His147Gln) c.124C>A n.274C>A c.372C>A (p.His124Gln) c.126C>A (p.His42Gln) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399153_1399154dup | CA2580612585 | GAMT | c.440_441dup (p.Gln148ThrfsTer14) c.123_124dup n.273_274dup c.371_372dup (p.Gln125ThrfsTer14) c.125_126dup (p.Gln43ThrfsTer14) | ClinVar dbSNP |
| 19 | g.1399153_1399154del | CA631044734 | GAMT | c.440_441del (p.His147ProfsTer?) c.123_124del n.273_274del c.371_372del (p.His124ProfsTer?) c.125_126del (p.His42ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399147T>A | CA402995068 | GAMT | c.440A>T (p.His147Leu) c.123A>T n.273A>T c.371A>T (p.His124Leu) c.125A>T (p.His42Leu) | |
| 19 | g.1399147T>C | CA402995069 | GAMT | c.440A>G (p.His147Arg) c.123A>G n.273A>G c.371A>G (p.His124Arg) c.125A>G (p.His42Arg) | gnomAD v4 |
| 19 | g.1399147T>G | CA402995070 | GAMT | c.440A>C (p.His147Pro) c.123A>C n.273A>C c.371A>C (p.His124Pro) c.125A>C (p.His42Pro) | |
| 19 | g.1399148G>A | CA402995088 | GAMT | c.439C>T (p.His147Tyr) c.122C>T n.272C>T c.370C>T (p.His124Tyr) c.124C>T (p.His42Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1399148G>C | CA402995087 | GAMT | c.439C>G (p.His147Asp) c.122C>G n.272C>G c.370C>G (p.His124Asp) c.124C>G (p.His42Asp) | |
| 19 | g.1399148G= | CA2317699116 | GAMT | c.439C= (p.His147=) c.122C= n.272C= c.370C= (p.His124=) c.124C= (p.His42=) | |
| 19 | g.1399148G>T | CA402995075 | GAMT | c.439C>A (p.His147Asn) c.122C>A n.272C>A c.370C>A (p.His124Asn) c.124C>A (p.His42Asn) | |
| 19 | g.1399148_1399149delinsGT | CA2317699117 | GAMT | c.438_439delinsAC (p.Thr146=) c.121_122delinsAC n.271_272delinsAC c.369_370delinsAC (p.Thr123=) c.123_124delinsAC (p.Thr41=) | |
| 19 | g.1399149del | CA2317699118 | GAMT | c.438del (p.His147ThrfsTer14) c.121del n.271del c.369del (p.His124ThrfsTer14) c.123del (p.His42ThrfsTer14) | dbSNP |
| 19 | g.1399149T>A | CA504730083 | GAMT | c.438A>T (p.Thr146=) c.121A>T n.271A>T c.369A>T (p.Thr123=) c.123A>T (p.Thr41=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399149T>C | CA341572 | GAMT | c.438A>G (p.Thr146=) c.121A>G n.271A>G c.369A>G (p.Thr123=) c.123A>G (p.Thr41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399149T>G | CA504730084 | GAMT | c.438A>C (p.Thr146=) c.121A>C n.271A>C c.369A>C (p.Thr123=) c.123A>C (p.Thr41=) | |
| 19 | g.1399149T= | CA2317699119 | GAMT | c.438A= (p.Thr146=) c.121A= n.271A= c.369A= (p.Thr123=) c.123A= (p.Thr41=) | |
| 19 | g.1399150G>A | CA402995100 | GAMT | c.437C>T (p.Thr146Ile) c.120C>T n.270C>T c.368C>T (p.Thr123Ile) c.122C>T (p.Thr41Ile) | |
| 19 | g.1399150G>C | CA9043661 | GAMT | c.437C>G (p.Thr146Arg) c.120C>G n.270C>G c.368C>G (p.Thr123Arg) c.122C>G (p.Thr41Arg) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.1399150G= | CA2317699120 | GAMT | c.437C= (p.Thr146=) c.120C= n.270C= c.368C= (p.Thr123=) c.122C= (p.Thr41=) | |
| 19 | g.1399150G>T | CA402995104 | GAMT | c.437C>A (p.Thr146Lys) c.120C>A n.270C>A c.368C>A (p.Thr123Lys) c.122C>A (p.Thr41Lys) | |
| 19 | g.1399151T>A | CA402995105 | GAMT | c.436A>T (p.Thr146Ser) c.119A>T n.269A>T c.367A>T (p.Thr123Ser) c.121A>T (p.Thr41Ser) | |
| 19 | g.1399151T>C | CA402995108 | GAMT | c.436A>G (p.Thr146Ala) c.119A>G n.269A>G c.367A>G (p.Thr123Ala) c.121A>G (p.Thr41Ala) | |
| 19 | g.1399151T>G | CA402995114 | GAMT | c.436A>C (p.Thr146Pro) c.119A>C n.269A>C c.367A>C (p.Thr123Pro) c.121A>C (p.Thr41Pro) | |
| 19 | g.1399152G>A | CA504730088 | GAMT | c.435C>T (p.His145=) c.118C>T n.268C>T c.366C>T (p.His122=) c.120C>T (p.His40=) | gnomAD v4 |
| 19 | g.1399152G>C | CA402995115 | GAMT | c.435C>G (p.His145Gln) c.118C>G n.268C>G c.366C>G (p.His122Gln) c.120C>G (p.His40Gln) | ClinVar dbSNP |
| 19 | g.1399152G>T | CA402995116 | GAMT | c.435C>A (p.His145Gln) c.118C>A n.268C>A c.366C>A (p.His122Gln) c.120C>A (p.His40Gln) | |
| 19 | g.1399153T>A | CA402995119 | GAMT | c.434A>T (p.His145Leu) c.117A>T n.267A>T c.365A>T (p.His122Leu) c.119A>T (p.His40Leu) | |
| 19 | g.1399153T>C | CA402995123 | GAMT | c.434A>G (p.His145Arg) c.117A>G n.267A>G c.365A>G (p.His122Arg) c.119A>G (p.His40Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399153T>G | CA402995127 | GAMT | c.434A>C (p.His145Pro) c.117A>C n.267A>C c.365A>C (p.His122Pro) c.119A>C (p.His40Pro) | |
| 19 | g.1399153T= | CA2317699121 | GAMT | c.434A= (p.His145=) c.117A= n.267A= c.365A= (p.His122=) c.119A= (p.His40=) | |
| 19 | g.1399154G>A | CA402995134 | GAMT | c.433C>T (p.His145Tyr) c.116C>T n.266C>T c.364C>T (p.His122Tyr) c.118C>T (p.His40Tyr) | gnomAD v4 |
| 19 | g.1399154G>C | CA402995140 | GAMT | c.433C>G (p.His145Asp) c.116C>G n.266C>G c.364C>G (p.His122Asp) c.118C>G (p.His40Asp) | |
| 19 | g.1399154G>T | CA402995129 | GAMT | c.433C>A (p.His145Asn) c.116C>A n.266C>A c.364C>A (p.His122Asn) c.118C>A (p.His40Asn) | |
| 19 | g.1399154_1399155dup | CA2573155792 | GAMT | c.432_433dup (p.His145ArgfsTer17) c.115_116dup n.265_266dup c.363_364dup (p.His122ArgfsTer17) c.117_118dup (p.His40ArgfsTer17) | ClinVar dbSNP |
| 19 | g.1399155C>A | CA402995143 | GAMT | c.432G>T (p.Trp144Cys) c.115G>T n.265G>T c.363G>T (p.Trp121Cys) c.117G>T (p.Trp39Cys) | |
| 19 | g.1399155C= | CA2317699122 | GAMT | c.432G= (p.Trp144=) c.115G= n.265G= c.363G= (p.Trp121=) c.117G= (p.Trp39=) | |
| 19 | g.1399155C>G | CA402995148 | GAMT | c.432G>C (p.Trp144Cys) c.115G>C n.265G>C c.363G>C (p.Trp121Cys) c.117G>C (p.Trp39Cys) | |
| 19 | g.1399155C>T | CA402995151 | GAMT | c.432G>A (p.Trp144Ter) c.115G>A n.265G>A c.363G>A (p.Trp121Ter) c.117G>A (p.Trp39Ter) | ClinVar dbSNP |
| 19 | g.1399156C>A | CA402995155 | GAMT | c.431G>T (p.Trp144Leu) c.114G>T n.264G>T c.362G>T (p.Trp121Leu) c.116G>T (p.Trp39Leu) | |
| 19 | g.1399156C>G | CA402995157 | GAMT | c.431G>C (p.Trp144Ser) c.114G>C n.264G>C c.362G>C (p.Trp121Ser) c.116G>C (p.Trp39Ser) | |
| 19 | g.1399156C>T | CA402995158 | GAMT | c.431G>A (p.Trp144Ter) c.114G>A n.264G>A c.362G>A (p.Trp121Ter) c.116G>A (p.Trp39Ter) | gnomAD v4 |
| 19 | g.1399156_1399159delinsCAGG | CA2317699123 | GAMT | c.428_431delinsCCTG (p.Thr143=) c.111_114delinsCCTG n.261_264delinsCCTG c.359_362delinsCCTG (p.Thr120=) c.113_116delinsCCTG (p.Thr38=) | |
| 19 | g.1399157A>C | CA402995159 | GAMT | c.430T>G (p.Trp144Gly) c.113T>G n.263T>G c.361T>G (p.Trp121Gly) c.115T>G (p.Trp39Gly) | |
| 19 | g.1399157A>G | CA402995161 | GAMT | c.430T>C (p.Trp144Arg) c.113T>C n.263T>C c.361T>C (p.Trp121Arg) c.115T>C (p.Trp39Arg) | |
| 19 | g.1399157A>T | CA402995169 | GAMT | c.430T>A (p.Trp144Arg) c.113T>A n.263T>A c.361T>A (p.Trp121Arg) c.115T>A (p.Trp39Arg) | |
| 19 | g.1399157_1399159del | CA783446235 | GAMT | c.428_430del (p.Thr143_Trp144delinsArg) c.111_113del n.261_263del c.359_361del (p.Thr120_Trp121delinsArg) c.113_115del (p.Thr38_Trp39delinsArg) | dbSNP |
| 19 | g.1399158G>A | CA504730092 | GAMT | c.429C>T (p.Thr143=) c.112C>T n.262C>T c.360C>T (p.Thr120=) c.114C>T (p.Thr38=) | ClinVar dbSNP |
| 19 | g.1399158G>C | CA9043662 | GAMT | c.429C>G (p.Thr143=) c.112C>G n.262C>G c.360C>G (p.Thr120=) c.114C>G (p.Thr38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399158G= | CA2317699124 | GAMT | c.429C= (p.Thr143=) c.112C= n.262C= c.360C= (p.Thr120=) c.114C= (p.Thr38=) | |
| 19 | g.1399158G>T | CA504730093 | GAMT | c.429C>A (p.Thr143=) c.112C>A n.262C>A c.360C>A (p.Thr120=) c.114C>A (p.Thr38=) | |
| 19 | g.1399159G>A | CA9043663 | GAMT | c.428C>T (p.Thr143Ile) c.111C>T n.261C>T c.359C>T (p.Thr120Ile) c.113C>T (p.Thr38Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399159G>C | CA402995182 | GAMT | c.428C>G (p.Thr143Ser) c.111C>G n.261C>G c.359C>G (p.Thr120Ser) c.113C>G (p.Thr38Ser) | gnomAD v4 |
| 19 | g.1399159G= | CA2317699125 | GAMT | c.428C= (p.Thr143=) c.111C= n.261C= c.359C= (p.Thr120=) c.113C= (p.Thr38=) | |
| 19 | g.1399159G>T | CA402995185 | GAMT | c.428C>A (p.Thr143Asn) c.111C>A n.261C>A c.359C>A (p.Thr120Asn) c.113C>A (p.Thr38Asn) | |
| 19 | g.1399160T>A | CA402995197 | GAMT | c.427A>T (p.Thr143Ser) c.110A>T n.260A>T c.358A>T (p.Thr120Ser) c.112A>T (p.Thr38Ser) | ClinVar gnomAD v4 |
| 19 | g.1399160T>C | CA402995194 | GAMT | c.427A>G (p.Thr143Ala) c.110A>G n.260A>G c.358A>G (p.Thr120Ala) c.112A>G (p.Thr38Ala) | |
| 19 | g.1399160T>G | CA402995190 | GAMT | c.427A>C (p.Thr143Pro) c.110A>C n.260A>C c.358A>C (p.Thr120Pro) c.112A>C (p.Thr38Pro) | |
| 19 | g.1399160T= | CA2317699126 | GAMT | c.427A= (p.Thr143=) c.110A= n.260A= c.358A= (p.Thr120=) c.112A= (p.Thr38=) | |
| 19 | g.1399160_1399163delinsTCTC | CA2317699127 | GAMT | c.424_427delinsGAGA (p.Glu142=) c.107_110delinsGAGA n.257_260delinsGAGA c.355_358delinsGAGA (p.Glu119=) c.109_112delinsGAGA (p.Glu37=) | |
| 19 | g.1399161C>A | CA402995202 | GAMT | c.426G>T (p.Glu142Asp) c.109G>T n.259G>T c.357G>T (p.Glu119Asp) c.111G>T (p.Glu37Asp) | |
| 19 | g.1399161C= | CA2317699128 | GAMT | c.426G= (p.Glu142=) c.109G= n.259G= c.357G= (p.Glu119=) c.111G= (p.Glu37=) | |
| 19 | g.1399161C>G | CA402995207 | GAMT | c.426G>C (p.Glu142Asp) c.109G>C n.259G>C c.357G>C (p.Glu119Asp) c.111G>C (p.Glu37Asp) | |
| 19 | g.1399161C>T | CA9043664 | GAMT | c.426G>A (p.Glu142=) c.109G>A n.259G>A c.357G>A (p.Glu119=) c.111G>A (p.Glu37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399161_1399162insCACACAC | CA783446248 | GAMT | c.426_427insTGTGTGG (p.Thr143CysfsTer?) c.109_110insTGTGTGG n.259_260insTGTGTGG c.357_358insTGTGTGG (p.Thr120CysfsTer?) c.111_112insTGTGTGG (p.Thr38CysfsTer?) | dbSNP |
| 19 | g.1399165_1399167del | CA992513703 | GAMT | c.424_426del (p.Glu142del) c.107_109del n.257_259del c.355_357del (p.Glu119del) c.109_111del (p.Glu37del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1399162T>A | CA402995214 | GAMT | c.425A>T (p.Glu142Val) c.108A>T n.258A>T c.356A>T (p.Glu119Val) c.110A>T (p.Glu37Val) | |
| 19 | g.1399162T>C | CA402995218 | GAMT | c.425A>G (p.Glu142Gly) c.108A>G n.258A>G c.356A>G (p.Glu119Gly) c.110A>G (p.Glu37Gly) | |
| 19 | g.1399162T>G | CA402995221 | GAMT | c.425A>C (p.Glu142Ala) c.108A>C n.258A>C c.356A>C (p.Glu119Ala) c.110A>C (p.Glu37Ala) | |
| 19 | g.1399163C>A | CA402995225 | GAMT | c.424G>T (p.Glu142Ter) c.107G>T n.257G>T c.355G>T (p.Glu119Ter) c.109G>T (p.Glu37Ter) | |
| 19 | g.1399163C>G | CA402995226 | GAMT | c.424G>C (p.Glu142Gln) c.107G>C n.257G>C c.355G>C (p.Glu119Gln) c.109G>C (p.Glu37Gln) | |
| 19 | g.1399163C>T | CA402995227 | GAMT | c.424G>A (p.Glu142Lys) c.107G>A n.257G>A c.355G>A (p.Glu119Lys) c.109G>A (p.Glu37Lys) | |
| 19 | g.1399164C>A | CA402995228 | GAMT | c.423G>T (p.Glu141Asp) c.106G>T n.256G>T c.354G>T (p.Glu118Asp) c.108G>T (p.Glu36Asp) | |
| 19 | g.1399164C>G | CA402995230 | GAMT | c.423G>C (p.Glu141Asp) c.106G>C n.256G>C c.354G>C (p.Glu118Asp) c.108G>C (p.Glu36Asp) | gnomAD v4 |
| 19 | g.1399164C>T | CA504730099 | GAMT | c.423G>A (p.Glu141=) c.106G>A n.256G>A c.354G>A (p.Glu118=) c.108G>A (p.Glu36=) | |
| 19 | g.1399165T>A | CA402995238 | GAMT | c.422A>T (p.Glu141Val) c.105A>T n.255A>T c.353A>T (p.Glu118Val) c.107A>T (p.Glu36Val) | |
| 19 | g.1399165T>C | CA402995240 | GAMT | c.422A>G (p.Glu141Gly) c.105A>G n.255A>G c.353A>G (p.Glu118Gly) c.107A>G (p.Glu36Gly) | |
| 19 | g.1399165T>G | CA402995241 | GAMT | c.422A>C (p.Glu141Ala) c.105A>C n.255A>C c.353A>C (p.Glu118Ala) c.107A>C (p.Glu36Ala) | |
| 19 | g.1399166C>A | CA402995249 | GAMT | c.421G>T (p.Glu141Ter) c.104G>T n.254G>T c.352G>T (p.Glu118Ter) c.106G>T (p.Glu36Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399166C= | CA2317699129 | GAMT | c.421G= (p.Glu141=) c.104G= n.254G= c.352G= (p.Glu118=) c.106G= (p.Glu36=) | |
| 19 | g.1399166C>G | CA402995260 | GAMT | c.421G>C (p.Glu141Gln) c.104G>C n.254G>C c.352G>C (p.Glu118Gln) c.106G>C (p.Glu36Gln) | |
| 19 | g.1399166C>T | CA402995245 | GAMT | c.421G>A (p.Glu141Lys) c.104G>A n.254G>A c.352G>A (p.Glu118Lys) c.106G>A (p.Glu36Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399167C>A | CA504730101 | GAMT | c.420G>T (p.Ser140=) c.103G>T n.253G>T c.351G>T (p.Ser117=) c.105G>T (p.Ser35=) | |
| 19 | g.1399167C= | CA2317699130 | GAMT | c.420G= (p.Ser140=) c.103G= n.253G= c.351G= (p.Ser117=) c.105G= (p.Ser35=) | |
| 19 | g.1399167C>G | CA504730102 | GAMT | c.420G>C (p.Ser140=) c.103G>C n.253G>C c.351G>C (p.Ser117=) c.105G>C (p.Ser35=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1399167C>T | CA9043665 | GAMT | c.420G>A (p.Ser140=) c.103G>A n.253G>A c.351G>A (p.Ser117=) c.105G>A (p.Ser35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399168G>A | CA9043666 | GAMT | c.419C>T (p.Ser140Leu) c.102C>T n.252C>T c.350C>T (p.Ser117Leu) c.104C>T (p.Ser35Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399168G>C | CA402995271 | GAMT | c.419C>G (p.Ser140Trp) c.102C>G n.252C>G c.350C>G (p.Ser117Trp) c.104C>G (p.Ser35Trp) | |
| 19 | g.1399168G= | CA2317699131 | GAMT | c.419C= (p.Ser140=) c.102C= n.252C= c.350C= (p.Ser117=) c.104C= (p.Ser35=) | |
| 19 | g.1399168G>T | CA402995274 | GAMT | c.419C>A (p.Ser140Ter) c.102C>A n.252C>A c.350C>A (p.Ser117Ter) c.104C>A (p.Ser35Ter) | ClinVar dbSNP |
| 19 | g.1399171_1399172del | CA2695223152 | GAMT | c.418_419del (p.Ser140GlyfsTer?) c.101_102del n.251_252del c.349_350del (p.Ser117GlyfsTer?) c.103_104del (p.Ser35GlyfsTer?) | |
| 19 | g.1399169A= | CA2317699132 | GAMT | c.418T= (p.Ser140=) c.101T= n.251T= c.349T= (p.Ser117=) c.103T= (p.Ser35=) | |
| 19 | g.1399169A>C | CA402995278 | GAMT | c.418T>G (p.Ser140Ala) c.101T>G n.251T>G c.349T>G (p.Ser117Ala) c.103T>G (p.Ser35Ala) | |
| 19 | g.1399169A>G | CA402995280 | GAMT | c.418T>C (p.Ser140Pro) c.101T>C n.251T>C c.349T>C (p.Ser117Pro) c.103T>C (p.Ser35Pro) | |
| 19 | g.1399169A>T | CA402995281 | GAMT | c.418T>A (p.Ser140Thr) c.101T>A n.251T>A c.349T>A (p.Ser117Thr) c.103T>A (p.Ser35Thr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399170G>A | CA504730104 | GAMT | c.417C>T (p.Leu139=) c.100C>T n.250C>T c.348C>T (p.Leu116=) c.102C>T (p.Leu34=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399170G>C | CA504730106 | GAMT | c.417C>G (p.Leu139=) c.100C>G n.250C>G c.348C>G (p.Leu116=) c.102C>G (p.Leu34=) | |
| 19 | g.1399170G= | CA2317699133 | GAMT | c.417C= (p.Leu139=) c.100C= n.250C= c.348C= (p.Leu116=) c.102C= (p.Leu34=) | |
| 19 | g.1399170G>T | CA504730108 | GAMT | c.417C>A (p.Leu139=) c.100C>A n.250C>A c.348C>A (p.Leu116=) c.102C>A (p.Leu34=) | |
| 19 | g.1399171del | CA645614609 | GAMT | c.416del (p.Leu139ProfsTer22) c.99del n.249del c.347del (p.Leu116ProfsTer22) c.101del (p.Leu34ProfsTer22) | COSMIC COSMIC |
| 19 | g.1399171A= | CA2317699134 | GAMT | c.416T= (p.Leu139=) c.99T= n.249T= c.347T= (p.Leu116=) c.101T= (p.Leu34=) | |
| 19 | g.1399171A>C | CA402995284 | GAMT | c.416T>G (p.Leu139Arg) c.99T>G n.249T>G c.347T>G (p.Leu116Arg) c.101T>G (p.Leu34Arg) | |
| 19 | g.1399171A>G | CA9043667 | GAMT | c.416T>C (p.Leu139Pro) c.99T>C n.249T>C c.347T>C (p.Leu116Pro) c.101T>C (p.Leu34Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399171A>T | CA402995286 | GAMT | c.416T>A (p.Leu139His) c.99T>A n.249T>A c.347T>A (p.Leu116His) c.101T>A (p.Leu34His) | |
| 19 | g.1399172G>A | CA402995289 | GAMT | c.415C>T (p.Leu139Phe) c.98C>T n.248C>T c.346C>T (p.Leu116Phe) c.100C>T (p.Leu34Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399172G>C | CA402995290 | GAMT | c.415C>G (p.Leu139Val) c.98C>G n.248C>G c.346C>G (p.Leu116Val) c.100C>G (p.Leu34Val) | |
| 19 | g.1399172G= | CA2317699135 | GAMT | c.415C= (p.Leu139=) c.98C= n.248C= c.346C= (p.Leu116=) c.100C= (p.Leu34=) | |
| 19 | g.1399172G>T | CA402995292 | GAMT | c.415C>A (p.Leu139Ile) c.98C>A n.248C>A c.346C>A (p.Leu116Ile) c.100C>A (p.Leu34Ile) | |
| 19 | g.1399173_1399174del | CA2499225403 | GAMT | c.414_415del (p.Ser140GlyfsTer?) c.97_98del n.247_248del c.345_346del (p.Ser117GlyfsTer?) c.99_100del (p.Ser35GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399173T>A | CA504730112 | GAMT | c.414A>T (p.Pro138=) c.97A>T n.247A>T c.345A>T (p.Pro115=) c.99A>T (p.Pro33=) | |
| 19 | g.1399173T>C | CA504730113 | GAMT | c.414A>G (p.Pro138=) c.97A>G n.247A>G c.345A>G (p.Pro115=) c.99A>G (p.Pro33=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399173T>G | CA504730114 | GAMT | c.414A>C (p.Pro138=) c.97A>C n.247A>C c.345A>C (p.Pro115=) c.99A>C (p.Pro33=) | |
| 19 | g.1399173T= | CA2317699136 | GAMT | c.414A= (p.Pro138=) c.97A= n.247A= c.345A= (p.Pro115=) c.99A= (p.Pro33=) | |
| 19 | g.1399174G>A | CA402995300 | GAMT | c.413C>T (p.Pro138Leu) c.96C>T n.246C>T c.344C>T (p.Pro115Leu) c.98C>T (p.Pro33Leu) | gnomAD v4 |
| 19 | g.1399174G>C | CA402995294 | GAMT | c.413C>G (p.Pro138Arg) c.96C>G n.246C>G c.344C>G (p.Pro115Arg) c.98C>G (p.Pro33Arg) | |
| 19 | g.1399174G>T | CA402995296 | GAMT | c.413C>A (p.Pro138Gln) c.96C>A n.246C>A c.344C>A (p.Pro115Gln) c.98C>A (p.Pro33Gln) | |
| 19 | g.1399176del | CA645614610 | GAMT | c.413del (p.Pro138HisfsTer23) c.96del n.246del c.344del (p.Pro115HisfsTer23) c.98del (p.Pro33HisfsTer23) | COSMIC COSMIC |
| 19 | g.1399175G>A | CA402995302 | GAMT | c.412C>T (p.Pro138Ser) c.95C>T n.245C>T c.343C>T (p.Pro115Ser) c.97C>T (p.Pro33Ser) | gnomAD v4 |
| 19 | g.1399175G>C | CA402995310 | GAMT | c.412C>G (p.Pro138Ala) c.95C>G n.245C>G c.343C>G (p.Pro115Ala) c.97C>G (p.Pro33Ala) | |
| 19 | g.1399175G>T | CA402995313 | GAMT | c.412C>A (p.Pro138Thr) c.95C>A n.245C>A c.343C>A (p.Pro115Thr) c.97C>A (p.Pro33Thr) | |
| 19 | g.1399176G>A | CA504730117 | GAMT | c.411C>T (p.Tyr137=) c.94C>T n.244C>T c.342C>T (p.Tyr114=) c.96C>T (p.Tyr32=) | gnomAD v4 |
| 19 | g.1399176G>C | CA402995318 | GAMT | c.411C>G (p.Tyr137Ter) c.94C>G n.244C>G c.342C>G (p.Tyr114Ter) c.96C>G (p.Tyr32Ter) | ClinVar |
| 19 | g.1399176G>T | CA402995321 | GAMT | c.411C>A (p.Tyr137Ter) c.94C>A n.244C>A c.342C>A (p.Tyr114Ter) c.96C>A (p.Tyr32Ter) | |
| 19 | g.1399177T>A | CA402995327 | GAMT | c.410A>T (p.Tyr137Phe) c.93A>T n.243A>T c.341A>T (p.Tyr114Phe) c.95A>T (p.Tyr32Phe) | |
| 19 | g.1399177T>C | CA402995329 | GAMT | c.410A>G (p.Tyr137Cys) c.93A>G n.243A>G c.341A>G (p.Tyr114Cys) c.95A>G (p.Tyr32Cys) | |
| 19 | g.1399177T>G | CA402995333 | GAMT | c.410A>C (p.Tyr137Ser) c.93A>C n.243A>C c.341A>C (p.Tyr114Ser) c.95A>C (p.Tyr32Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399177T= | CA2317699137 | GAMT | c.410A= (p.Tyr137=) c.93A= n.243A= c.341A= (p.Tyr114=) c.95A= (p.Tyr32=) | |
| 19 | g.1399178del | CA2576548658 | GAMT | c.409del (p.Tyr137ThrfsTer24) c.92del n.242del c.340del (p.Tyr114ThrfsTer24) c.94del (p.Tyr32ThrfsTer24) | |
| 19 | g.1399178A>C | CA402995338 | GAMT | c.409T>G (p.Tyr137Asp) c.92T>G n.242T>G c.340T>G (p.Tyr114Asp) c.94T>G (p.Tyr32Asp) | |
| 19 | g.1399178A>G | CA402995340 | GAMT | c.409T>C (p.Tyr137His) c.92T>C n.242T>C c.340T>C (p.Tyr114His) c.94T>C (p.Tyr32His) | |
| 19 | g.1399178A>T | CA402995343 | GAMT | c.409T>A (p.Tyr137Asn) c.92T>A n.242T>A c.340T>A (p.Tyr114Asn) c.94T>A (p.Tyr32Asn) | |
| 19 | g.1399179C>A | CA504730120 | GAMT | c.408G>T (p.Thr136=) c.91G>T n.241G>T c.339G>T (p.Thr113=) c.93G>T (p.Thr31=) | gnomAD v4 |
| 19 | g.1399179C= | CA2317699138 | GAMT | c.408G= (p.Thr136=) c.91G= n.241G= c.339G= (p.Thr113=) c.93G= (p.Thr31=) | |
| 19 | g.1399179C>G | CA504730122 | GAMT | c.408G>C (p.Thr136=) c.91G>C n.241G>C c.339G>C (p.Thr113=) c.93G>C (p.Thr31=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399179C>T | CA9043668 | GAMT | c.408G>A (p.Thr136=) c.91G>A n.241G>A c.339G>A (p.Thr113=) c.93G>A (p.Thr31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399180G>A | CA9043669 | GAMT | c.407C>T (p.Thr136Met) c.90C>T n.240C>T c.338C>T (p.Thr113Met) c.92C>T (p.Thr31Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399180G>C | CA402995357 | GAMT | c.407C>G (p.Thr136Arg) c.90C>G n.240C>G c.338C>G (p.Thr113Arg) c.92C>G (p.Thr31Arg) | dbSNP gnomAD v4 |
| 19 | g.1399180G= | CA2317699139 | GAMT | c.407C= (p.Thr136=) c.90C= n.240C= c.338C= (p.Thr113=) c.92C= (p.Thr31=) | |
| 19 | g.1399180G>T | CA9043670 | GAMT | c.407C>A (p.Thr136Lys) c.90C>A n.240C>A c.338C>A (p.Thr113Lys) c.92C>A (p.Thr31Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399181T>A | CA402995360 | GAMT | c.406A>T (p.Thr136Ser) c.89A>T n.239A>T c.337A>T (p.Thr113Ser) c.91A>T (p.Thr31Ser) | |
| 19 | g.1399181T>C | CA402995369 | GAMT | c.406A>G (p.Thr136Ala) c.89A>G n.239A>G c.337A>G (p.Thr113Ala) c.91A>G (p.Thr31Ala) | gnomAD v4 |
| 19 | g.1399181T>G | CA402995363 | GAMT | c.406A>C (p.Thr136Pro) c.89A>C n.239A>C c.337A>C (p.Thr113Pro) c.91A>C (p.Thr31Pro) | |
| 19 | g.1399182G>A | CA504730125 | GAMT | c.405C>T (p.Asp135=) c.88C>T n.238C>T c.336C>T (p.Asp112=) c.90C>T (p.Asp30=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399182G>C | CA402995373 | GAMT | c.405C>G (p.Asp135Glu) c.88C>G n.238C>G c.336C>G (p.Asp112Glu) c.90C>G (p.Asp30Glu) | |
| 19 | g.1399182G= | CA2317699140 | GAMT | c.405C= (p.Asp135=) c.88C= n.238C= c.336C= (p.Asp112=) c.90C= (p.Asp30=) | |
| 19 | g.1399182G>T | CA402995375 | GAMT | c.405C>A (p.Asp135Glu) c.88C>A n.238C>A c.336C>A (p.Asp112Glu) c.90C>A (p.Asp30Glu) | COSMIC |
| 19 | g.1399183T>A | CA402995379 | GAMT | c.404A>T (p.Asp135Val) c.87A>T n.237A>T c.335A>T (p.Asp112Val) c.89A>T (p.Asp30Val) | |
| 19 | g.1399183T>C | CA402995385 | GAMT | c.404A>G (p.Asp135Gly) c.87A>G n.237A>G c.335A>G (p.Asp112Gly) c.89A>G (p.Asp30Gly) | gnomAD v4 |
| 19 | g.1399183T>G | CA402995383 | GAMT | c.404A>C (p.Asp135Ala) c.87A>C n.237A>C c.335A>C (p.Asp112Ala) c.89A>C (p.Asp30Ala) | |
| 19 | g.1399184C>A | CA402995388 | GAMT | c.403G>T (p.Asp135Tyr) c.86G>T n.236G>T c.334G>T (p.Asp112Tyr) c.88G>T (p.Asp30Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1399184C= | CA2317699141 | GAMT | c.403G= (p.Asp135=) c.86G= n.236G= c.334G= (p.Asp112=) c.88G= (p.Asp30=) | |
| 19 | g.1399184C>G | CA402995395 | GAMT | c.403G>C (p.Asp135His) c.86G>C n.236G>C c.334G>C (p.Asp112His) c.88G>C (p.Asp30His) | ClinVar |
| 19 | g.1399184C>T | CA9043671 | GAMT | c.403G>A (p.Asp135Asn) c.86G>A n.236G>A c.334G>A (p.Asp112Asn) c.88G>A (p.Asp30Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399185G>A | CA9043672 | GAMT | c.402C>T (p.Tyr134=) c.85C>T n.235C>T c.333C>T (p.Tyr111=) c.87C>T (p.Tyr29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399185G>C | CA9043673 | GAMT | c.402C>G (p.Tyr134Ter) c.85C>G n.235C>G c.333C>G (p.Tyr111Ter) c.87C>G (p.Tyr29Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399185G= | CA2317699142 | GAMT | c.402C= (p.Tyr134=) c.85C= n.235C= c.333C= (p.Tyr111=) c.87C= (p.Tyr29=) | |
| 19 | g.1399185G>T | CA402995399 | GAMT | c.402C>A (p.Tyr134Ter) c.85C>A n.235C>A c.333C>A (p.Tyr111Ter) c.87C>A (p.Tyr29Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399186T>A | CA402995401 | GAMT | c.401A>T (p.Tyr134Phe) c.84A>T n.234A>T c.332A>T (p.Tyr111Phe) c.86A>T (p.Tyr29Phe) | |
| 19 | g.1399186T>C | CA402995403 | GAMT | c.401A>G (p.Tyr134Cys) c.84A>G n.234A>G c.332A>G (p.Tyr111Cys) c.86A>G (p.Tyr29Cys) | |
| 19 | g.1399186T>G | CA402995405 | GAMT | c.401A>C (p.Tyr134Ser) c.84A>C n.234A>C c.332A>C (p.Tyr111Ser) c.86A>C (p.Tyr29Ser) | |
| 19 | g.1399187A>C | CA402995407 | GAMT | c.400T>G (p.Tyr134Asp) c.83T>G n.233T>G c.331T>G (p.Tyr111Asp) c.85T>G (p.Tyr29Asp) | |
| 19 | g.1399187A>G | CA402995408 | GAMT | c.400T>C (p.Tyr134His) c.83T>C n.233T>C c.331T>C (p.Tyr111His) c.85T>C (p.Tyr29His) | |
| 19 | g.1399187A>T | CA402995410 | GAMT | c.400T>A (p.Tyr134Asn) c.83T>A n.233T>A c.331T>A (p.Tyr111Asn) c.85T>A (p.Tyr29Asn) | gnomAD v4 |
| 19 | g.1399188C>A | CA504730130 | GAMT | c.399G>T (p.Leu133=) c.82G>T n.232G>T c.330G>T (p.Leu110=) c.84G>T (p.Leu28=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399188C>G | CA504730131 | GAMT | c.399G>C (p.Leu133=) c.82G>C n.232G>C c.330G>C (p.Leu110=) c.84G>C (p.Leu28=) | |
| 19 | g.1399188C>T | CA504730129 | GAMT | c.399G>A (p.Leu133=) c.82G>A n.232G>A c.330G>A (p.Leu110=) c.84G>A (p.Leu28=) | |
| 19 | g.1399189A>C | CA402995413 | GAMT | c.398T>G (p.Leu133Arg) c.81T>G n.231T>G c.329T>G (p.Leu110Arg) c.83T>G (p.Leu28Arg) | |
| 19 | g.1399189A>G | CA402995411 | GAMT | c.398T>C (p.Leu133Pro) c.81T>C n.231T>C c.329T>C (p.Leu110Pro) c.83T>C (p.Leu28Pro) | |
| 19 | g.1399189A>T | CA402995412 | GAMT | c.398T>A (p.Leu133Gln) c.81T>A n.231T>A c.329T>A (p.Leu110Gln) c.83T>A (p.Leu28Gln) | |
| 19 | g.1399190G>A | CA504730134 | GAMT | c.397C>T (p.Leu133=) c.80C>T n.230C>T c.328C>T (p.Leu110=) c.82C>T (p.Leu28=) | ClinVar dbSNP |
| 19 | g.1399190G>C | CA402995414 | GAMT | c.397C>G (p.Leu133Val) c.80C>G n.230C>G c.328C>G (p.Leu110Val) c.82C>G (p.Leu28Val) | |
| 19 | g.1399190G>T | CA402995415 | GAMT | c.397C>A (p.Leu133Met) c.80C>A n.230C>A c.328C>A (p.Leu110Met) c.82C>A (p.Leu28Met) | |
| 19 | g.1399191dup | CA2576548659 | GAMT | c.397dup (p.Leu133ProfsTer?) c.80dup n.230dup c.328dup (p.Leu110ProfsTer?) c.82dup (p.Leu28ProfsTer?) | |
| 19 | g.1399191G>A | CA504730136 | GAMT | c.396C>T (p.Ile132=) c.79C>T n.229C>T c.327C>T (p.Ile109=) c.81C>T (p.Ile27=) | gnomAD v4 |
| 19 | g.1399191G>C | CA402995416 | GAMT | c.396C>G (p.Ile132Met) c.79C>G n.229C>G c.327C>G (p.Ile109Met) c.81C>G (p.Ile27Met) | |
| 19 | g.1399191G= | CA2317699143 | GAMT | c.396C= (p.Ile132=) c.79C= n.229C= c.327C= (p.Ile109=) c.81C= (p.Ile27=) | |
| 19 | g.1399191G>T | CA9043674 | GAMT | c.396C>A (p.Ile132=) c.79C>A n.229C>A c.327C>A (p.Ile109=) c.81C>A (p.Ile27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399192A>C | CA402995418 | GAMT | c.395T>G (p.Ile132Ser) c.78T>G n.228T>G c.326T>G (p.Ile109Ser) c.80T>G (p.Ile27Ser) | |
| 19 | g.1399192A>G | CA402995420 | GAMT | c.395T>C (p.Ile132Thr) c.78T>C n.228T>C c.326T>C (p.Ile109Thr) c.80T>C (p.Ile27Thr) | |
| 19 | g.1399192A>T | CA402995424 | GAMT | c.395T>A (p.Ile132Asn) c.78T>A n.228T>A c.326T>A (p.Ile109Asn) c.80T>A (p.Ile27Asn) | |
| 19 | g.1399193T>A | CA402995426 | GAMT | c.394A>T (p.Ile132Phe) c.77A>T n.227A>T c.325A>T (p.Ile109Phe) c.79A>T (p.Ile27Phe) | |
| 19 | g.1399193T>C | CA304066141 | GAMT | c.394A>G (p.Ile132Val) c.77A>G n.227A>G c.325A>G (p.Ile109Val) c.79A>G (p.Ile27Val) | dbSNP |
| 19 | g.1399193T>G | CA402995432 | GAMT | c.394A>C (p.Ile132Leu) c.77A>C n.227A>C c.325A>C (p.Ile109Leu) c.79A>C (p.Ile27Leu) | |
| 19 | g.1399193T= | CA2317699144 | GAMT | c.394A= (p.Ile132=) c.77A= n.227A= c.325A= (p.Ile109=) c.79A= (p.Ile27=) | |
| 19 | g.1399194C>A | CA504730140 | GAMT | c.393G>T (p.Gly131=) c.76G>T n.226G>T c.324G>T (p.Gly108=) c.78G>T (p.Gly26=) | ClinVar gnomAD v4 |
| 19 | g.1399194C= | CA2317699145 | GAMT | c.393G= (p.Gly131=) c.76G= n.226G= c.324G= (p.Gly108=) c.78G= (p.Gly26=) | |
| 19 | g.1399194C>G | CA504730142 | GAMT | c.393G>C (p.Gly131=) c.76G>C n.226G>C c.324G>C (p.Gly108=) c.78G>C (p.Gly26=) | |
| 19 | g.1399194C>T | CA504730143 | GAMT | c.393G>A (p.Gly131=) c.76G>A n.226G>A c.324G>A (p.Gly108=) c.78G>A (p.Gly26=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1399195C>A | CA402995437 | GAMT | c.392G>T (p.Gly131Val) c.75G>T n.225G>T c.323G>T (p.Gly108Val) c.77G>T (p.Gly26Val) | |
| 19 | g.1399195C= | CA2317699146 | GAMT | c.392G= (p.Gly131=) c.75G= n.225G= c.323G= (p.Gly108=) c.77G= (p.Gly26=) | |
| 19 | g.1399195C>G | CA9043675 | GAMT | c.392G>C (p.Gly131Ala) c.75G>C n.225G>C c.323G>C (p.Gly108Ala) c.77G>C (p.Gly26Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399195C>T | CA304066150 | GAMT | c.392G>A (p.Gly131Glu) c.75G>A n.225G>A c.323G>A (p.Gly108Glu) c.77G>A (p.Gly26Glu) | dbSNP gnomAD v4 |
| 19 | g.1399196C>A | CA402995438 | GAMT | c.392-1G>T (n.392-1G>T) c.75-1G>T n.225-1G>T c.323-1G>T (n.323-1G>T) c.77-1G>T (n.77-1G>T) | |
| 19 | g.1399196C= | CA2317699147 | GAMT | c.392-1G= (n.392-1G=) c.75-1G= n.225-1G= c.323-1G= (n.323-1G=) c.77-1G= (n.77-1G=) | |
| 19 | g.1399196C>G | CA402995439 | GAMT | c.392-1G>C (n.392-1G>C) c.75-1G>C n.225-1G>C c.323-1G>C (n.323-1G>C) c.77-1G>C (n.77-1G>C) | |
| 19 | g.1399196C>T | CA402995440 | GAMT | c.392-1G>A (n.392-1G>A) c.75-1G>A n.225-1G>A c.323-1G>A (n.323-1G>A) c.77-1G>A (n.77-1G>A) | ClinVar dbSNP |
| 19 | g.1399197T>A | CA402995442 | GAMT | c.392-2A>T (n.392-2A>T) c.75-2A>T n.225-2A>T c.323-2A>T (n.323-2A>T) c.77-2A>T (n.77-2A>T) | |
| 19 | g.1399197T>C | CA402995443 | GAMT | c.392-2A>G (n.392-2A>G) c.75-2A>G n.225-2A>G c.323-2A>G (n.323-2A>G) c.77-2A>G (n.77-2A>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399197T>G | CA402995445 | GAMT | c.392-2A>C (n.392-2A>C) c.75-2A>C n.225-2A>C c.323-2A>C (n.323-2A>C) c.77-2A>C (n.77-2A>C) | |
| 19 | g.1399197T= | CA2317699148 | GAMT | c.392-2A= (n.392-2A=) c.75-2A= n.225-2A= c.323-2A= (n.323-2A=) c.77-2A= (n.77-2A=) | |
| 19 | g.1399198G>C | CA2576548660 | GAMT | c.392-3C>G (n.392-3C>G) c.75-3C>G n.225-3C>G c.323-3C>G (n.323-3C>G) c.77-3C>G (n.77-3C>G) | |
| 19 | g.1399198G>T | CA2582641099 | GAMT | c.392-3C>A (n.392-3C>A) c.75-3C>A n.225-3C>A c.323-3C>A (n.323-3C>A) c.77-3C>A (n.77-3C>A) | gnomAD v4 |
| 19 | g.1399200A= | CA2317699149 | GAMT | c.392-5T= (n.392-5T=) c.75-5T= n.225-5T= c.323-5T= (n.323-5T=) c.77-5T= (n.77-5T=) | |
| 19 | g.1399200A>C | CA2580096069 | GAMT | c.392-5T>G (n.392-5T>G) c.75-5T>G n.225-5T>G c.323-5T>G (n.323-5T>G) c.77-5T>G (n.77-5T>G) | ClinVar gnomAD v4 |
| 19 | g.1399200A>G | CA9043676 | GAMT | c.392-5T>C (n.392-5T>C) c.75-5T>C n.225-5T>C c.323-5T>C (n.323-5T>C) c.77-5T>C (n.77-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |