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