Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1399730_1399880del | CA2695223157 | GAMT | c.242_327+65del c.173_258+65del | |
19 | g.1399800_1399801del | CA2580612588 | GAMT | c.324_325del (p.His108GlnfsTer18) c.7_8del c.255_256del (p.His85GlnfsTer18) c.9_10del (p.His3GlnfsTer18) | ClinVar dbSNP gnomAD v4 |
19 | g.1399798G>A | CA402996070 | GAMT | c.322C>T (p.His108Tyr) c.5C>T c.253C>T (p.His85Tyr) c.7C>T (p.His3Tyr) | gnomAD v4 |
19 | g.1399798G>C | CA402996071 | GAMT | c.322C>G (p.His108Asp) c.5C>G c.253C>G (p.His85Asp) c.7C>G (p.His3Asp) | |
19 | g.1399798G>T | CA402996076 | GAMT | c.322C>A (p.His108Asn) c.5C>A c.253C>A (p.His85Asn) c.7C>A (p.His3Asn) | gnomAD v4 |
19 | g.1399799T>A | CA504730251 | GAMT | c.321A>T (p.Thr107=) c.4A>T c.252A>T (p.Thr84=) c.6A>T (p.Thr2=) | |
19 | g.1399799T>C | CA504730252 | GAMT | c.321A>G (p.Thr107=) c.4A>G c.252A>G (p.Thr84=) c.6A>G (p.Thr2=) | ClinVar gnomAD v4 |
19 | g.1399799T>G | CA504730253 | GAMT | c.321A>C (p.Thr107=) c.4A>C c.252A>C (p.Thr84=) c.6A>C (p.Thr2=) | |
19 | g.1399800G>A | CA402996088 | GAMT | c.320C>T (p.Thr107Ile) c.3C>T c.251C>T (p.Thr84Ile) c.5C>T (p.Thr2Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399800G>C | CA402996078 | GAMT | c.320C>G (p.Thr107Arg) c.3C>G c.251C>G (p.Thr84Arg) c.5C>G (p.Thr2Arg) | |
19 | g.1399800G= | CA2317699495 | GAMT | c.320C= (p.Thr107=) c.3C= c.251C= (p.Thr84=) c.5C= (p.Thr2=) | |
19 | g.1399800G>T | CA304066570 | GAMT | c.320C>A (p.Thr107Lys) c.3C>A c.251C>A (p.Thr84Lys) c.5C>A (p.Thr2Lys) | dbSNP gnomAD v4 |
19 | g.1399801T>A | CA402996091 | GAMT | c.319A>T (p.Thr107Ser) c.2A>T c.250A>T (p.Thr84Ser) c.4A>T (p.Thr2Ser) | gnomAD v4 |
19 | g.1399801T>C | CA402996101 | GAMT | c.319A>G (p.Thr107Ala) c.2A>G c.250A>G (p.Thr84Ala) c.4A>G (p.Thr2Ala) | gnomAD v4 |
19 | g.1399801T>G | CA402996112 | GAMT | c.319A>C (p.Thr107Pro) c.2A>C c.250A>C (p.Thr84Pro) c.4A>C (p.Thr2Pro) | |
19 | g.1399802C>A | CA402996114 | GAMT | c.318G>T (p.Gln106His) c.1G>T c.249G>T (p.Gln83His) c.3G>T (p.Gln1His) | gnomAD v4 |
19 | g.1399802C>G | CA402996115 | GAMT | c.318G>C (p.Gln106His) c.1G>C c.249G>C (p.Gln83His) c.3G>C (p.Gln1His) | |
19 | g.1399802C>T | CA504730254 | GAMT | c.318G>A (p.Gln106=) c.1G>A c.249G>A (p.Gln83=) c.3G>A (p.Gln1=) | |
19 | g.1399803T>A | CA402996116 | GAMT | c.317A>T (p.Gln106Leu) c.248A>T (p.Gln83Leu) c.2A>T (p.Gln1Leu) | gnomAD v4 |
19 | g.1399803T>C | CA402996119 | GAMT | c.317A>G (p.Gln106Arg) c.248A>G (p.Gln83Arg) c.2A>G (p.Gln1Arg) | gnomAD v4 |
19 | g.1399803T>G | CA9043739 | GAMT | c.317A>C (p.Gln106Pro) c.248A>C (p.Gln83Pro) c.2A>C (p.Gln1Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399803T= | CA2317699496 | GAMT | c.317A= (p.Gln106=) c.248A= (p.Gln83=) c.2A= (p.Gln1=) | |
19 | g.1399804G>A | CA402996122 | GAMT | c.316C>T (p.Gln106Ter) c.247C>T (p.Gln83Ter) c.1C>T (p.Gln1Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399804G>C | CA402996123 | GAMT | c.316C>G (p.Gln106Glu) c.247C>G (p.Gln83Glu) c.1C>G (p.Gln1Glu) | gnomAD v4 |
19 | g.1399804G= | CA2317699497 | GAMT | c.316C= (p.Gln106=) c.247C= (p.Gln83=) c.1C= (p.Gln1=) | |
19 | g.1399804G>T | CA402996124 | GAMT | c.316C>A (p.Gln106Lys) c.247C>A (p.Gln83Lys) c.1C>A (p.Gln1Lys) | gnomAD v4 |
19 | g.1399805C>A | CA504730255 | GAMT | c.315G>T (p.Arg105=) c.246G>T (p.Arg82=) | gnomAD v4 |
19 | g.1399805C= | CA2317699498 | GAMT | c.315G= (p.Arg105=) c.246G= (p.Arg82=) | |
19 | g.1399805C>G | CA504730256 | GAMT | c.315G>C (p.Arg105=) c.246G>C (p.Arg82=) | |
19 | g.1399805C>T | CA9043740 | GAMT | c.315G>A (p.Arg105=) c.246G>A (p.Arg82=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399806C>A | CA402996129 | GAMT | c.314G>T (p.Arg105Leu) c.245G>T (p.Arg82Leu) | gnomAD v4 |
19 | g.1399806C= | CA2317699499 | GAMT | c.314G= (p.Arg105=) c.245G= (p.Arg82=) | |
19 | g.1399806C>G | CA402996131 | GAMT | c.314G>C (p.Arg105Pro) c.245G>C (p.Arg82Pro) | |
19 | g.1399806C>T | CA9043741 | GAMT | c.314G>A (p.Arg105Gln) c.245G>A (p.Arg82Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399806_1399807insCA | CA2499225406 | GAMT | c.313_314insTG (p.Arg105LeufsTer10) c.244_245insTG (p.Arg82LeufsTer10) | ClinVar dbSNP |
19 | g.1399807G>A | CA9043742 | GAMT | c.313C>T (p.Arg105Trp) c.244C>T (p.Arg82Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399807G>C | CA402996135 | GAMT | c.313C>G (p.Arg105Gly) c.244C>G (p.Arg82Gly) | |
19 | g.1399807G= | CA2317699500 | GAMT | c.313C= (p.Arg105=) c.244C= (p.Arg82=) | |
19 | g.1399807G>T | CA504730257 | GAMT | c.313C>A (p.Arg105=) c.244C>A (p.Arg82=) | gnomAD v4 COSMIC COSMIC |
19 | g.1399808T>A | CA504730258 | GAMT | c.312A>T (p.Pro104=) c.243A>T (p.Pro81=) | |
19 | g.1399808T>C | CA314778 | GAMT | c.312A>G (p.Pro104=) c.243A>G (p.Pro81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399808T>G | CA504730259 | GAMT | c.312A>C (p.Pro104=) c.243A>C (p.Pro81=) | |
19 | g.1399808T= | CA2317699501 | GAMT | c.312A= (p.Pro104=) c.243A= (p.Pro81=) | |
19 | g.1399809G>A | CA9043743 | GAMT | c.311C>T (p.Pro104Leu) c.242C>T (p.Pro81Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399809G>C | CA402996157 | GAMT | c.311C>G (p.Pro104Arg) c.242C>G (p.Pro81Arg) | |
19 | g.1399809G= | CA2317699502 | GAMT | c.311C= (p.Pro104=) c.242C= (p.Pro81=) | |
19 | g.1399809G>T | CA402996160 | GAMT | c.311C>A (p.Pro104Gln) c.242C>A (p.Pro81Gln) | gnomAD v4 |
19 | g.1399812del | CA2582641489 | GAMT | c.311del (p.Pro104HisfsTer10) c.242del (p.Pro81HisfsTer10) | gnomAD v4 |
19 | g.1399811_1399823dup | CA340767 | GAMT | c.299_311dup (p.Arg105GlyfsTer26) c.230_242dup (p.Arg82GlyfsTer26) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399810G>A | CA402996163 | GAMT | c.310C>T (p.Pro104Ser) c.241C>T (p.Pro81Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399810G>C | CA402996166 | GAMT | c.310C>G (p.Pro104Ala) c.241C>G (p.Pro81Ala) | gnomAD v4 |
19 | g.1399810G= | CA2317699503 | GAMT | c.310C= (p.Pro104=) c.241C= (p.Pro81=) | |
19 | g.1399810G>T | CA402996171 | GAMT | c.310C>A (p.Pro104Thr) c.241C>A (p.Pro81Thr) | gnomAD v4 |
19 | g.1399811G>A | CA504730260 | GAMT | c.309C>T (p.Ala103=) c.240C>T (p.Ala80=) | gnomAD v4 |
19 | g.1399811G>C | CA504730261 | GAMT | c.309C>G (p.Ala103=) c.240C>G (p.Ala80=) | ClinVar dbSNP |
19 | g.1399811G>T | CA504730262 | GAMT | c.309C>A (p.Ala103=) c.240C>A (p.Ala80=) | gnomAD v4 |
19 | g.1399812G>A | CA402996176 | GAMT | c.308C>T (p.Ala103Val) c.239C>T (p.Ala80Val) | ClinVar dbSNP gnomAD v4 |
19 | g.1399812G>C | CA402996178 | GAMT | c.308C>G (p.Ala103Gly) c.239C>G (p.Ala80Gly) | |
19 | g.1399812G= | CA2317699504 | GAMT | c.308C= (p.Ala103=) c.239C= (p.Ala80=) | |
19 | g.1399812G>T | CA402996180 | GAMT | c.308C>A (p.Ala103Asp) c.239C>A (p.Ala80Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399812_1399813delinsGC | CA2317699505 | GAMT | c.307_308delinsGC (p.Ala103=) c.238_239delinsGC (p.Ala80=) | |
19 | g.1399813C>A | CA402996192 | GAMT | c.307G>T (p.Ala103Ser) c.238G>T (p.Ala80Ser) | gnomAD v4 |
19 | g.1399813C= | CA2317699507 | GAMT | c.307G= (p.Ala103=) c.238G= (p.Ala80=) | |
19 | g.1399813C>G | CA402996186 | GAMT | c.307G>C (p.Ala103Pro) c.238G>C (p.Ala80Pro) | |
19 | g.1399813C>T | CA402996188 | GAMT | c.307G>A (p.Ala103Thr) c.238G>A (p.Ala80Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399815del | CA2317699506 | GAMT | c.307del (p.Ala103ProfsTer11) c.238del (p.Ala80ProfsTer11) | ClinVar dbSNP gnomAD v4 |
19 | g.1399814C>A | CA402996206 | GAMT | c.306G>T (p.Trp102Cys) c.237G>T (p.Trp79Cys) | gnomAD v4 |
19 | g.1399814C= | CA2317699508 | GAMT | c.306G= (p.Trp102=) c.237G= (p.Trp79=) | |
19 | g.1399814C>G | CA402996207 | GAMT | c.306G>C (p.Trp102Cys) c.237G>C (p.Trp79Cys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399814C>T | CA402996208 | GAMT | c.306G>A (p.Trp102Ter) c.237G>A (p.Trp79Ter) | ClinVar gnomAD v4 |
19 | g.1399815C>A | CA402996210 | GAMT | c.305G>T (p.Trp102Leu) c.236G>T (p.Trp79Leu) | gnomAD v4 |
19 | g.1399815C>G | CA402996211 | GAMT | c.305G>C (p.Trp102Ser) c.236G>C (p.Trp79Ser) | |
19 | g.1399815C>T | CA402996212 | GAMT | c.305G>A (p.Trp102Ter) c.236G>A (p.Trp79Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.1399816A= | CA2317699509 | GAMT | c.304T= (p.Trp102=) c.235T= (p.Trp79=) | |
19 | g.1399816A>C | CA402996213 | GAMT | c.304T>G (p.Trp102Gly) c.235T>G (p.Trp79Gly) | |
19 | g.1399816A>G | CA402996214 | GAMT | c.304T>C (p.Trp102Arg) c.235T>C (p.Trp79Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399816A>T | CA402996215 | GAMT | c.304T>A (p.Trp102Arg) c.235T>A (p.Trp79Arg) | gnomAD v4 |
19 | g.1399817G>A | CA504730263 | GAMT | c.303C>T (p.Asp101=) c.234C>T (p.Asp78=) | gnomAD v4 |
19 | g.1399817G>C | CA402996217 | GAMT | c.303C>G (p.Asp101Glu) c.234C>G (p.Asp78Glu) | gnomAD v4 |
19 | g.1399817G>T | CA402996219 | GAMT | c.303C>A (p.Asp101Glu) c.234C>A (p.Asp78Glu) | gnomAD v4 |
19 | g.1399818T>A | CA402996223 | GAMT | c.302A>T (p.Asp101Val) c.233A>T (p.Asp78Val) | gnomAD v4 |
19 | g.1399818T>C | CA402996222 | GAMT | c.302A>G (p.Asp101Gly) c.233A>G (p.Asp78Gly) | |
19 | g.1399818T>G | CA402996221 | GAMT | c.302A>C (p.Asp101Ala) c.233A>C (p.Asp78Ala) | |
19 | g.1399818_1399819delinsTC | CA2317699510 | GAMT | c.301_302delinsGA (p.Asp101=) c.232_233delinsGA (p.Asp78=) | |
19 | g.1399819C>A | CA402996224 | GAMT | c.301G>T (p.Asp101Tyr) c.232G>T (p.Asp78Tyr) | gnomAD v4 |
19 | g.1399819C>G | CA402996225 | GAMT | c.301G>C (p.Asp101His) c.232G>C (p.Asp78His) | gnomAD v4 |
19 | g.1399819C>T | CA402996228 | GAMT | c.301G>A (p.Asp101Asn) c.232G>A (p.Asp78Asn) | gnomAD v4 |
19 | g.1399821del | CA9043744 | GAMT | c.301del (p.Asp101ThrfsTer13) c.232del (p.Asp78ThrfsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399820C>A | CA504730264 | GAMT | c.300G>T (p.Arg100=) c.231G>T (p.Arg77=) | gnomAD v4 |
19 | g.1399820C>G | CA504730265 | GAMT | c.300G>C (p.Arg100=) c.231G>C (p.Arg77=) | |
19 | g.1399820C>T | CA504730266 | GAMT | c.300G>A (p.Arg100=) c.231G>A (p.Arg77=) | gnomAD v4 |
19 | g.1399821C>A | CA402996231 | GAMT | c.299G>T (p.Arg100Leu) c.230G>T (p.Arg77Leu) | gnomAD v4 |
19 | g.1399821C= | CA2317699511 | GAMT | c.299G= (p.Arg100=) c.230G= (p.Arg77=) | |
19 | g.1399821C>G | CA402996232 | GAMT | c.299G>C (p.Arg100Pro) c.230G>C (p.Arg77Pro) | |
19 | g.1399821C>T | CA9043745 | GAMT | c.299G>A (p.Arg100Gln) c.230G>A (p.Arg77Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399822G>A | CA314802 | GAMT | c.298C>T (p.Arg100Trp) c.229C>T (p.Arg77Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1399822G>C | CA402996236 | GAMT | c.298C>G (p.Arg100Gly) c.229C>G (p.Arg77Gly) | gnomAD v4 |
19 | g.1399822G= | CA2317699512 | GAMT | c.298C= (p.Arg100=) c.229C= (p.Arg77=) | |
19 | g.1399822G>T | CA504730267 | GAMT | c.298C>A (p.Arg100=) c.229C>A (p.Arg77=) | gnomAD v4 |
19 | g.1399823G>A | CA504730270 | GAMT | c.297C>T (p.Leu99=) c.228C>T (p.Leu76=) | |
19 | g.1399823G>C | CA504730269 | GAMT | c.297C>G (p.Leu99=) c.228C>G (p.Leu76=) | |
19 | g.1399823G>T | CA504730268 | GAMT | c.297C>A (p.Leu99=) c.228C>A (p.Leu76=) | gnomAD v4 |
19 | g.1399824A= | CA2317699513 | GAMT | c.296T= (p.Leu99=) c.227T= (p.Leu76=) | |
19 | g.1399824A>C | CA402996238 | GAMT | c.296T>G (p.Leu99Arg) c.227T>G (p.Leu76Arg) | |
19 | g.1399824A>G | CA402996242 | GAMT | c.296T>C (p.Leu99Pro) c.227T>C (p.Leu76Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399824A>T | CA402996245 | GAMT | c.296T>A (p.Leu99His) c.227T>A (p.Leu76His) | |
19 | g.1399825G>A | CA402996261 | GAMT | c.295C>T (p.Leu99Phe) c.226C>T (p.Leu76Phe) | ClinVar dbSNP gnomAD v4 |
19 | g.1399825G>C | CA402996259 | GAMT | c.295C>G (p.Leu99Val) c.226C>G (p.Leu76Val) | |
19 | g.1399825G= | CA2317699514 | GAMT | c.295C= (p.Leu99=) c.226C= (p.Leu76=) | |
19 | g.1399825G>T | CA402996250 | GAMT | c.295C>A (p.Leu99Ile) c.226C>A (p.Leu76Ile) | dbSNP gnomAD v4 |
19 | g.1399826C>A | CA504730273 | GAMT | c.294G>T (p.Arg98=) c.225G>T (p.Arg75=) | gnomAD v4 |
19 | g.1399826C>G | CA504730272 | GAMT | c.294G>C (p.Arg98=) c.225G>C (p.Arg75=) | |
19 | g.1399826C>T | CA504730271 | GAMT | c.294G>A (p.Arg98=) c.225G>A (p.Arg75=) | gnomAD v4 |
19 | g.1399827C>A | CA402996267 | GAMT | c.293G>T (p.Arg98Leu) c.224G>T (p.Arg75Leu) | gnomAD v4 |
19 | g.1399827C= | CA2317699515 | GAMT | c.293G= (p.Arg98=) c.224G= (p.Arg75=) | |
19 | g.1399827C>G | CA402996268 | GAMT | c.293G>C (p.Arg98Pro) c.224G>C (p.Arg75Pro) | |
19 | g.1399827C>T | CA9043746 | GAMT | c.293G>A (p.Arg98Gln) c.224G>A (p.Arg75Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399828G>A | CA9043747 | GAMT | c.292C>T (p.Arg98Trp) c.223C>T (p.Arg75Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399828G>C | CA402996278 | GAMT | c.292C>G (p.Arg98Gly) c.223C>G (p.Arg75Gly) | |
19 | g.1399828G= | CA2317699516 | GAMT | c.292C= (p.Arg98=) c.223C= (p.Arg75=) | |
19 | g.1399828G>T | CA504730274 | GAMT | c.292C>A (p.Arg98=) c.223C>A (p.Arg75=) | ClinVar gnomAD v4 |
19 | g.1399829C>A | CA314800 | GAMT | c.291G>T (p.Gln97His) c.222G>T (p.Gln74His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399829C= | CA2317699517 | GAMT | c.291G= (p.Gln97=) c.222G= (p.Gln74=) | |
19 | g.1399829C>G | CA402996286 | GAMT | c.291G>C (p.Gln97His) c.222G>C (p.Gln74His) | |
19 | g.1399829C>T | CA504730275 | GAMT | c.291G>A (p.Gln97=) c.222G>A (p.Gln74=) | ClinVar dbSNP gnomAD v4 |
19 | g.1399830T>A | CA402996289 | GAMT | c.290A>T (p.Gln97Leu) c.221A>T (p.Gln74Leu) | |
19 | g.1399830T>C | CA402996293 | GAMT | c.290A>G (p.Gln97Arg) c.221A>G (p.Gln74Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399830T>G | CA9043748 | GAMT | c.290A>C (p.Gln97Pro) c.221A>C (p.Gln74Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399830T= | CA2317699518 | GAMT | c.290A= (p.Gln97=) c.221A= (p.Gln74=) | |
19 | g.1399830_1399831delinsTG | CA2317699519 | GAMT | c.289_290delinsCA (p.Gln97=) c.220_221delinsCA (p.Gln74=) | |
19 | g.1399831G>A | CA402996297 | GAMT | c.289C>T (p.Gln97Ter) c.220C>T (p.Gln74Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399831G>C | CA402996303 | GAMT | c.289C>G (p.Gln97Glu) c.220C>G (p.Gln74Glu) | |
19 | g.1399831G= | CA2317699520 | GAMT | c.289C= (p.Gln97=) c.220C= (p.Gln74=) | |
19 | g.1399831G>T | CA402996307 | GAMT | c.289C>A (p.Gln97Lys) c.220C>A (p.Gln74Lys) | gnomAD v4 |
19 | g.1399832dup | CA2582641490 | GAMT | c.289dup (p.Gln97ProfsTer30) c.220dup (p.Gln74ProfsTer30) | gnomAD v4 |
19 | g.1399832del | CA304066600 | GAMT | c.289del (p.Gln97SerfsTer17) c.220del (p.Gln74SerfsTer17) | ClinVar dbSNP |
19 | g.1399832G>A | CA504730276 | GAMT | c.288C>T (p.Phe96=) c.219C>T (p.Phe73=) | |
19 | g.1399832G>C | CA402996319 | GAMT | c.288C>G (p.Phe96Leu) c.219C>G (p.Phe73Leu) | ClinVar dbSNP |
19 | g.1399832G= | CA2317699521 | GAMT | c.288C= (p.Phe96=) c.219C= (p.Phe73=) | |
19 | g.1399832G>T | CA402996310 | GAMT | c.288C>A (p.Phe96Leu) c.219C>A (p.Phe73Leu) | gnomAD v4 |
19 | g.1399833A>C | CA402996325 | GAMT | c.287T>G (p.Phe96Cys) c.218T>G (p.Phe73Cys) | |
19 | g.1399833A>G | CA402996334 | GAMT | c.287T>C (p.Phe96Ser) c.218T>C (p.Phe73Ser) | gnomAD v4 |
19 | g.1399833A>T | CA402996338 | GAMT | c.287T>A (p.Phe96Tyr) c.218T>A (p.Phe73Tyr) | |
19 | g.1399833_1399836del | CA2582641491 | GAMT | c.284_287del (p.Val95AlafsTer18) c.215_218del (p.Val72AlafsTer18) | gnomAD v4 |
19 | g.1399834A>C | CA402996342 | GAMT | c.286T>G (p.Phe96Val) c.217T>G (p.Phe73Val) | |
19 | g.1399834A>G | CA402996343 | GAMT | c.286T>C (p.Phe96Leu) c.217T>C (p.Phe73Leu) | |
19 | g.1399834A>T | CA402996346 | GAMT | c.286T>A (p.Phe96Ile) c.217T>A (p.Phe73Ile) | |
19 | g.1399835G>A | CA504730277 | GAMT | c.285C>T (p.Val95=) c.216C>T (p.Val72=) | gnomAD v4 |
19 | g.1399835G>C | CA504730279 | GAMT | c.285C>G (p.Val95=) c.216C>G (p.Val72=) | |
19 | g.1399835G>T | CA504730281 | GAMT | c.285C>A (p.Val95=) c.216C>A (p.Val72=) | gnomAD v4 |
19 | g.1399836_1399838dup | CA2695223160 | GAMT | c.283_285dup (p.Val95_Phe96insVal) c.214_216dup (p.Val72_Phe73insVal) | |
19 | g.1399840_1399897dup | CA2582641492 | GAMT | c.228_285dup (p.Phe96LysfsTer8) c.159_216dup (p.Phe73LysfsTer8) | gnomAD v4 |
19 | g.1399836A>C | CA402996347 | GAMT | c.284T>G (p.Val95Gly) c.215T>G (p.Val72Gly) | |
19 | g.1399836A>G | CA402996349 | GAMT | c.284T>C (p.Val95Ala) c.215T>C (p.Val72Ala) | |
19 | g.1399836A>T | CA402996351 | GAMT | c.284T>A (p.Val95Asp) c.215T>A (p.Val72Asp) | |
19 | g.1399837C>A | CA402996352 | GAMT | c.283G>T (p.Val95Phe) c.214G>T (p.Val72Phe) | gnomAD v4 |
19 | g.1399837C= | CA2317699522 | GAMT | c.283G= (p.Val95=) c.214G= (p.Val72=) | |
19 | g.1399837C>G | CA402996353 | GAMT | c.283G>C (p.Val95Leu) c.214G>C (p.Val72Leu) | |
19 | g.1399837C>T | CA9043749 | GAMT | c.283G>A (p.Val95Ile) c.214G>A (p.Val72Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1399837_1399840del | CA2582641493 | GAMT | c.280_283del (p.Gly94SerfsTer19) c.211_214del (p.Gly71SerfsTer19) | gnomAD v4 |
19 | g.1399837_1399842delinsGTGCATCGAG | CA2695223162 | GAMT | c.278_283delinsCTCGATGCAC (p.Asp93AlafsTer?) c.209_214delinsCTCGATGCAC (p.Asp70AlafsTer?) | |
19 | g.1399838G>A | CA9043750 | GAMT | c.282C>T (p.Gly94=) c.213C>T (p.Gly71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399838G>C | CA504730285 | GAMT | c.282C>G (p.Gly94=) c.213C>G (p.Gly71=) | dbSNP |
19 | g.1399838G= | CA2317699523 | GAMT | c.282C= (p.Gly94=) c.213C= (p.Gly71=) | |
19 | g.1399838G>T | CA504730286 | GAMT | c.282C>A (p.Gly94=) c.213C>A (p.Gly71=) | |
19 | g.1399839C>A | CA402996369 | GAMT | c.281G>T (p.Gly94Val) c.212G>T (p.Gly71Val) | dbSNP |
19 | g.1399839C= | CA2317699524 | GAMT | c.281G= (p.Gly94=) c.212G= (p.Gly71=) | |
19 | g.1399839C>G | CA402996363 | GAMT | c.281G>C (p.Gly94Ala) c.212G>C (p.Gly71Ala) | |
19 | g.1399839C>T | CA402996359 | GAMT | c.281G>A (p.Gly94Asp) c.212G>A (p.Gly71Asp) | |
19 | g.1399840C>A | CA402996376 | GAMT | c.280G>T (p.Gly94Cys) c.211G>T (p.Gly71Cys) | dbSNP gnomAD v4 |
19 | g.1399840C= | CA2317699525 | GAMT | c.280G= (p.Gly94=) c.211G= (p.Gly71=) | |
19 | g.1399840C>G | CA402996379 | GAMT | c.280G>C (p.Gly94Arg) c.211G>C (p.Gly71Arg) | |
19 | g.1399840C>T | CA9043751 | GAMT | c.280G>A (p.Gly94Ser) c.211G>A (p.Gly71Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399841G>A | CA291015 | GAMT | c.279C>T (p.Asp93=) c.210C>T (p.Asp70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399841G>C | CA402996390 | GAMT | c.279C>G (p.Asp93Glu) c.210C>G (p.Asp70Glu) | dbSNP |
19 | g.1399841G= | CA2317699526 | GAMT | c.279C= (p.Asp93=) c.210C= (p.Asp70=) | |
19 | g.1399841G>T | CA402996394 | GAMT | c.279C>A (p.Asp93Glu) c.210C>A (p.Asp70Glu) | |
19 | g.1399842T>A | CA402996396 | GAMT | c.278A>T (p.Asp93Val) c.209A>T (p.Asp70Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399842T>C | CA402996397 | GAMT | c.278A>G (p.Asp93Gly) c.209A>G (p.Asp70Gly) | |
19 | g.1399842T>G | CA402996400 | GAMT | c.278A>C (p.Asp93Ala) c.209A>C (p.Asp70Ala) | |
19 | g.1399842T= | CA2317699527 | GAMT | c.278A= (p.Asp93=) c.209A= (p.Asp70=) | |
19 | g.1399842_1399843insGCATCGAG | CA2582641494 | GAMT | c.277_278insCTCGATGC (p.Asp93AlafsTer24) c.208_209insCTCGATGC (p.Asp70AlafsTer24) | gnomAD v4 |
19 | g.1399843C>A | CA402996402 | GAMT | c.277G>T (p.Asp93Tyr) c.208G>T (p.Asp70Tyr) | gnomAD v4 COSMIC COSMIC |
19 | g.1399843C>G | CA402996404 | GAMT | c.277G>C (p.Asp93His) c.208G>C (p.Asp70His) | |
19 | g.1399843C>T | CA402996406 | GAMT | c.277G>A (p.Asp93Asn) c.208G>A (p.Asp70Asn) | |
19 | g.1399844A= | CA2317699528 | GAMT | c.276T= (p.Asn92=) c.207T= (p.Asn69=) | |
19 | g.1399844A>C | CA9043752 | GAMT | c.276T>G (p.Asn92Lys) c.207T>G (p.Asn69Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399844A>G | CA504730288 | GAMT | c.276T>C (p.Asn92=) c.207T>C (p.Asn69=) | ClinVar dbSNP gnomAD v4 |
19 | g.1399844A>T | CA402996412 | GAMT | c.276T>A (p.Asn92Lys) c.207T>A (p.Asn69Lys) | |
19 | g.1399845T>A | CA402996419 | GAMT | c.275A>T (p.Asn92Ile) c.206A>T (p.Asn69Ile) | |
19 | g.1399845T>C | CA402996417 | GAMT | c.275A>G (p.Asn92Ser) c.206A>G (p.Asn69Ser) | gnomAD v4 |
19 | g.1399845T>G | CA402996415 | GAMT | c.275A>C (p.Asn92Thr) c.206A>C (p.Asn69Thr) | |
19 | g.1399846T>A | CA402996423 | GAMT | c.274A>T (p.Asn92Tyr) c.205A>T (p.Asn69Tyr) | |
19 | g.1399846T>C | CA402996427 | GAMT | c.274A>G (p.Asn92Asp) c.205A>G (p.Asn69Asp) | ClinVar gnomAD v4 |
19 | g.1399846T>G | CA402996430 | GAMT | c.274A>C (p.Asn92His) c.205A>C (p.Asn69His) | |
19 | g.1399847G>A | CA504730290 | GAMT | c.273C>T (p.Cys91=) c.204C>T (p.Cys68=) | ClinVar dbSNP gnomAD v4 |
19 | g.1399847G>C | CA402996434 | GAMT | c.273C>G (p.Cys91Trp) c.204C>G (p.Cys68Trp) | |
19 | g.1399847G>T | CA402996437 | GAMT | c.273C>A (p.Cys91Ter) c.204C>A (p.Cys68Ter) | gnomAD v4 |
19 | g.1399848C>A | CA402996442 | GAMT | c.272G>T (p.Cys91Phe) c.203G>T (p.Cys68Phe) | |
19 | g.1399848C>G | CA402996441 | GAMT | c.272G>C (p.Cys91Ser) c.203G>C (p.Cys68Ser) | |
19 | g.1399848C>T | CA402996439 | GAMT | c.272G>A (p.Cys91Tyr) c.203G>A (p.Cys68Tyr) | gnomAD v4 |
19 | g.1399849A>C | CA402996443 | GAMT | c.271T>G (p.Cys91Gly) c.202T>G (p.Cys68Gly) | gnomAD v4 |
19 | g.1399849A>G | CA402996444 | GAMT | c.271T>C (p.Cys91Arg) c.202T>C (p.Cys68Arg) | gnomAD v4 |
19 | g.1399849A>T | CA402996446 | GAMT | c.271T>A (p.Cys91Ser) c.202T>A (p.Cys68Ser) | |
19 | g.1399849_1399850insTA | CA2573334549 | GAMT | c.271_272insAT (p.Cys91TyrfsTer24) c.202_203insAT (p.Cys68TyrfsTer24) | |
19 | g.1399850C>A | CA402996449 | GAMT | c.270G>T (p.Glu90Asp) c.201G>T (p.Glu67Asp) | |
19 | g.1399850C= | CA2317699529 | GAMT | c.270G= (p.Glu90=) c.201G= (p.Glu67=) | |
19 | g.1399850C>G | CA402996450 | GAMT | c.270G>C (p.Glu90Asp) c.201G>C (p.Glu67Asp) | |
19 | g.1399850C>T | CA9043753 | GAMT | c.270G>A (p.Glu90=) c.201G>A (p.Glu67=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399851_1399859del | CA2695223164 | GAMT | c.262_270del (p.Ile88_Glu90del) c.193_201del (p.Ile65_Glu67del) | |
19 | g.1399851T>A | CA402996477 | GAMT | c.269A>T (p.Glu90Val) c.200A>T (p.Glu67Val) | |
19 | g.1399851T>C | CA402996466 | GAMT | c.269A>G (p.Glu90Gly) c.200A>G (p.Glu67Gly) | gnomAD v4 |
19 | g.1399851T>G | CA402996470 | GAMT | c.269A>C (p.Glu90Ala) c.200A>C (p.Glu67Ala) | |
19 | g.1399852C>A | CA402996479 | GAMT | c.268G>T (p.Glu90Ter) c.199G>T (p.Glu67Ter) | gnomAD v4 |
19 | g.1399852C= | CA2317699531 | GAMT | c.268G= (p.Glu90=) c.199G= (p.Glu67=) | |
19 | g.1399852C>G | CA402996482 | GAMT | c.268G>C (p.Glu90Gln) c.199G>C (p.Glu67Gln) | |
19 | g.1399852C>T | CA402996483 | GAMT | c.268G>A (p.Glu90Lys) c.199G>A (p.Glu67Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399852_1399855delinsCGAT | CA2317699530 | GAMT | c.265_268delinsATCG (p.Ile89=) c.196_199delinsATCG (p.Ile66=) | |
19 | g.1399853G>A | CA504730295 | GAMT | c.267C>T (p.Ile89=) c.198C>T (p.Ile66=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399853G>C | CA402996486 | GAMT | c.267C>G (p.Ile89Met) c.198C>G (p.Ile66Met) | |
19 | g.1399853G= | CA2317699532 | GAMT | c.267C= (p.Ile89=) c.198C= (p.Ile66=) | |
19 | g.1399853G>T | CA504730296 | GAMT | c.267C>A (p.Ile89=) c.198C>A (p.Ile66=) | ClinVar dbSNP gnomAD v4 |
19 | g.1399856_1399858del | CA314857 | GAMT | c.265_267del (p.Ile89del) c.196_198del (p.Ile66del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399854A>C | CA402996502 | GAMT | c.266T>G (p.Ile89Ser) c.197T>G (p.Ile66Ser) | |
19 | g.1399854A>G | CA402996503 | GAMT | c.266T>C (p.Ile89Thr) c.197T>C (p.Ile66Thr) | gnomAD v4 |
19 | g.1399854A>T | CA402996506 | GAMT | c.266T>A (p.Ile89Asn) c.197T>A (p.Ile66Asn) | |
19 | g.1399855T>A | CA402996507 | GAMT | c.265A>T (p.Ile89Phe) c.196A>T (p.Ile66Phe) | |
19 | g.1399855T>C | CA402996508 | GAMT | c.265A>G (p.Ile89Val) c.196A>G (p.Ile66Val) | gnomAD v4 |
19 | g.1399855T>G | CA402996512 | GAMT | c.265A>C (p.Ile89Leu) c.196A>C (p.Ile66Leu) | |
19 | g.1399856G>A | CA504730299 | GAMT | c.264C>T (p.Ile88=) c.195C>T (p.Ile65=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399856G>C | CA402996515 | GAMT | c.264C>G (p.Ile88Met) c.195C>G (p.Ile65Met) | |
19 | g.1399856G= | CA2317699533 | GAMT | c.264C= (p.Ile88=) c.195C= (p.Ile65=) | |
19 | g.1399856G>T | CA504730300 | GAMT | c.264C>A (p.Ile88=) c.195C>A (p.Ile65=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399857A= | CA2317699534 | GAMT | c.263T= (p.Ile88=) c.194T= (p.Ile65=) | |
19 | g.1399857A>C | CA402996519 | GAMT | c.263T>G (p.Ile88Ser) c.194T>G (p.Ile65Ser) | |
19 | g.1399857A>G | CA402996528 | GAMT | c.263T>C (p.Ile88Thr) c.194T>C (p.Ile65Thr) | |
19 | g.1399857A>T | CA402996525 | GAMT | c.263T>A (p.Ile88Asn) c.194T>A (p.Ile65Asn) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399858T>A | CA402996530 | GAMT | c.262A>T (p.Ile88Phe) c.193A>T (p.Ile65Phe) | |
19 | g.1399858T>C | CA402996532 | GAMT | c.262A>G (p.Ile88Val) c.193A>G (p.Ile65Val) | |
19 | g.1399858T>G | CA402996531 | GAMT | c.262A>C (p.Ile88Leu) c.193A>C (p.Ile65Leu) | |
19 | g.1399859C>A | CA402996533 | GAMT | c.261G>T (p.Trp87Cys) c.192G>T (p.Trp64Cys) | |
19 | g.1399859C= | CA2317699535 | GAMT | c.261G= (p.Trp87=) c.192G= (p.Trp64=) | |
19 | g.1399859C>G | CA402996534 | GAMT | c.261G>C (p.Trp87Cys) c.192G>C (p.Trp64Cys) | ClinVar |
19 | g.1399859C>T | CA9043754 | GAMT | c.261G>A (p.Trp87Ter) c.192G>A (p.Trp64Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399860del | CA2582641495 | GAMT | c.261del (p.Trp87Ter) c.192del (p.Trp64Ter) | gnomAD v4 |
19 | g.1399860C>A | CA402996537 | GAMT | c.260G>T (p.Trp87Leu) c.191G>T (p.Trp64Leu) | |
19 | g.1399860C= | CA2317699536 | GAMT | c.260G= (p.Trp87=) c.191G= (p.Trp64=) | |
19 | g.1399860C>G | CA402996539 | GAMT | c.260G>C (p.Trp87Ser) c.191G>C (p.Trp64Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399860C>T | CA402996544 | GAMT | c.260G>A (p.Trp87Ter) c.191G>A (p.Trp64Ter) | gnomAD v4 |
19 | g.1399861A= | CA2317699537 | GAMT | c.259T= (p.Trp87=) c.190T= (p.Trp64=) | |
19 | g.1399861A>C | CA402996545 | GAMT | c.259T>G (p.Trp87Gly) c.190T>G (p.Trp64Gly) | |
19 | g.1399861A>G | CA402996556 | GAMT | c.259T>C (p.Trp87Arg) c.190T>C (p.Trp64Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399861A>T | CA402996557 | GAMT | c.259T>A (p.Trp87Arg) c.190T>A (p.Trp64Arg) | |
19 | g.1399862A= | CA2317699538 | GAMT | c.258T= (p.His86=) c.189T= (p.His63=) | |
19 | g.1399862A>C | CA402996558 | GAMT | c.258T>G (p.His86Gln) c.189T>G (p.His63Gln) | |
19 | g.1399862A>G | CA9043755 | GAMT | c.258T>C (p.His86=) c.189T>C (p.His63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399862A>T | CA402996560 | GAMT | c.258T>A (p.His86Gln) c.189T>A (p.His63Gln) | |
19 | g.1399863T>A | CA402996586 | GAMT | c.257A>T (p.His86Leu) c.188A>T (p.His63Leu) | |
19 | g.1399863T>C | CA402996581 | GAMT | c.257A>G (p.His86Arg) c.188A>G (p.His63Arg) | |
19 | g.1399863T>G | CA402996583 | GAMT | c.257A>C (p.His86Pro) c.188A>C (p.His63Pro) | |
19 | g.1399864G>A | CA402996591 | GAMT | c.256C>T (p.His86Tyr) c.187C>T (p.His63Tyr) | gnomAD v4 |
19 | g.1399864G>C | CA402996596 | GAMT | c.256C>G (p.His86Asp) c.187C>G (p.His63Asp) | gnomAD v4 |
19 | g.1399864G>T | CA402996598 | GAMT | c.256C>A (p.His86Asn) c.187C>A (p.His63Asn) | |
19 | g.1399865C>A | CA402996599 | GAMT | c.255G>T (p.Glu85Asp) c.186G>T (p.Glu62Asp) | gnomAD v4 |
19 | g.1399865C= | CA2317699539 | GAMT | c.255G= (p.Glu85=) c.186G= (p.Glu62=) | |
19 | g.1399865C>G | CA402996601 | GAMT | c.255G>C (p.Glu85Asp) c.186G>C (p.Glu62Asp) | |
19 | g.1399865C>T | CA9043756 | GAMT | c.255G>A (p.Glu85=) c.186G>A (p.Glu62=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399866T>A | CA402996605 | GAMT | c.254A>T (p.Glu85Val) c.185A>T (p.Glu62Val) | |
19 | g.1399866T>C | CA402996608 | GAMT | c.254A>G (p.Glu85Gly) c.185A>G (p.Glu62Gly) | |
19 | g.1399866T>G | CA402996612 | GAMT | c.254A>C (p.Glu85Ala) c.185A>C (p.Glu62Ala) | |
19 | g.1399867C>A | CA402996615 | GAMT | c.253G>T (p.Glu85Ter) c.184G>T (p.Glu62Ter) | |
19 | g.1399867C= | CA2317699540 | GAMT | c.253G= (p.Glu85=) c.184G= (p.Glu62=) | |
19 | g.1399867C>G | CA402996621 | GAMT | c.253G>C (p.Glu85Gln) c.184G>C (p.Glu62Gln) | |
19 | g.1399867C>T | CA304066640 | GAMT | c.253G>A (p.Glu85Lys) c.184G>A (p.Glu62Lys) | dbSNP gnomAD v4 |
19 | g.1399868A= | CA2317699541 | GAMT | c.252T= (p.Asp84=) c.183T= (p.Asp61=) | |
19 | g.1399868A>C | CA304066647 | GAMT | c.252T>G (p.Asp84Glu) c.183T>G (p.Asp61Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399868A>G | CA504730305 | GAMT | c.252T>C (p.Asp84=) c.183T>C (p.Asp61=) | |
19 | g.1399868A>T | CA402996630 | GAMT | c.252T>A (p.Asp84Glu) c.183T>A (p.Asp61Glu) | |
19 | g.1399869T>A | CA402996635 | GAMT | c.251A>T (p.Asp84Val) c.182A>T (p.Asp61Val) | gnomAD v4 |
19 | g.1399869T>C | CA402996639 | GAMT | c.251A>G (p.Asp84Gly) c.182A>G (p.Asp61Gly) | |
19 | g.1399869T>G | CA402996641 | GAMT | c.251A>C (p.Asp84Ala) c.182A>C (p.Asp61Ala) | |
19 | g.1399870C>A | CA9043758 | GAMT | c.250G>T (p.Asp84Tyr) c.181G>T (p.Asp61Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399870C= | CA2317699542 | GAMT | c.250G= (p.Asp84=) c.181G= (p.Asp61=) | |
19 | g.1399870C>G | CA9043757 | GAMT | c.250G>C (p.Asp84His) c.181G>C (p.Asp61His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399870C>T | CA402996648 | GAMT | c.250G>A (p.Asp84Asn) c.181G>A (p.Asp61Asn) | |
19 | g.1399871A>C | CA402996651 | GAMT | c.249T>G (p.Ile83Met) c.180T>G (p.Ile60Met) | |
19 | g.1399871A>G | CA504730308 | GAMT | c.249T>C (p.Ile83=) c.180T>C (p.Ile60=) | gnomAD v4 |
19 | g.1399871A>T | CA504730309 | GAMT | c.249T>A (p.Ile83=) c.180T>A (p.Ile60=) | |
19 | g.1399872A= | CA2317699543 | GAMT | c.248T= (p.Ile83=) c.179T= (p.Ile60=) | |
19 | g.1399872A>C | CA402996662 | GAMT | c.248T>G (p.Ile83Ser) c.179T>G (p.Ile60Ser) | |
19 | g.1399872A>G | CA402996671 | GAMT | c.248T>C (p.Ile83Thr) c.179T>C (p.Ile60Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.1399872A>T | CA314798 | GAMT | c.248T>A (p.Ile83Asn) c.179T>A (p.Ile60Asn) | ClinVar dbSNP gnomAD v4 |
19 | g.1399873T>A | CA402996683 | GAMT | c.247A>T (p.Ile83Phe) c.178A>T (p.Ile60Phe) | |
19 | g.1399873T>C | CA402996698 | GAMT | c.247A>G (p.Ile83Val) c.178A>G (p.Ile60Val) | gnomAD v4 |
19 | g.1399873T>G | CA402996700 | GAMT | c.247A>C (p.Ile83Leu) c.178A>C (p.Ile60Leu) | |
19 | g.1399874G>A | CA504730313 | GAMT | c.246C>T (p.Pro82=) c.177C>T (p.Pro59=) | ClinVar gnomAD v4 |
19 | g.1399874G>C | CA504730314 | GAMT | c.246C>G (p.Pro82=) c.177C>G (p.Pro59=) | |
19 | g.1399874G>T | CA504730312 | GAMT | c.246C>A (p.Pro82=) c.177C>A (p.Pro59=) | ClinVar gnomAD v4 |
19 | g.1399875G>A | CA402996720 | GAMT | c.245C>T (p.Pro82Leu) c.176C>T (p.Pro59Leu) | dbSNP |
19 | g.1399875G>C | CA402996709 | GAMT | c.245C>G (p.Pro82Arg) c.176C>G (p.Pro59Arg) | |
19 | g.1399875G= | CA2317699544 | GAMT | c.245C= (p.Pro82=) c.176C= (p.Pro59=) | |
19 | g.1399875G>T | CA402996716 | GAMT | c.245C>A (p.Pro82His) c.176C>A (p.Pro59His) | gnomAD v4 |
19 | g.1399876G>A | CA402996727 | GAMT | c.244C>T (p.Pro82Ser) c.175C>T (p.Pro59Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399876G>C | CA402996730 | GAMT | c.244C>G (p.Pro82Ala) c.175C>G (p.Pro59Ala) | |
19 | g.1399876G= | CA2317699545 | GAMT | c.244C= (p.Pro82=) c.175C= (p.Pro59=) | |
19 | g.1399876G>T | CA402996734 | GAMT | c.244C>A (p.Pro82Thr) c.175C>A (p.Pro59Thr) | |
19 | g.1399877C>A | CA504730318 | GAMT | c.243G>T (p.Ala81=) c.174G>T (p.Ala58=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399877C= | CA2317699546 | GAMT | c.243G= (p.Ala81=) c.174G= (p.Ala58=) | |
19 | g.1399877C>G | CA504730319 | GAMT | c.243G>C (p.Ala81=) c.174G>C (p.Ala58=) | |
19 | g.1399877C>T | CA304066666 | GAMT | c.243G>A (p.Ala81=) c.174G>A (p.Ala58=) | ClinVar dbSNP gnomAD v4 |
19 | g.1399878G>A | CA314796 | GAMT | c.242C>T (p.Ala81Val) c.173C>T (p.Ala58Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399878G>C | CA402996741 | GAMT | c.242C>G (p.Ala81Gly) c.173C>G (p.Ala58Gly) | |
19 | g.1399878G= | CA2317699547 | GAMT | c.242C= (p.Ala81=) c.173C= (p.Ala58=) | |
19 | g.1399878G>T | CA402996743 | GAMT | c.242C>A (p.Ala81Glu) c.173C>A (p.Ala58Glu) | gnomAD v4 |
19 | g.1399879C>A | CA402996749 | GAMT | c.241G>T (p.Ala81Ser) c.172G>T (p.Ala58Ser) | |
19 | g.1399879C>G | CA402996753 | GAMT | c.241G>C (p.Ala81Pro) c.172G>C (p.Ala58Pro) | |
19 | g.1399879C>T | CA402996755 | GAMT | c.241G>A (p.Ala81Thr) c.172G>A (p.Ala58Thr) | |
19 | g.1399880C>A | CA402996762 | GAMT | c.240G>T (p.Glu80Asp) c.171G>T (p.Glu57Asp) | gnomAD v4 |
19 | g.1399880C>G | CA402996765 | GAMT | c.240G>C (p.Glu80Asp) c.171G>C (p.Glu57Asp) | |
19 | g.1399880C>T | CA504730321 | GAMT | c.240G>A (p.Glu80=) c.171G>A (p.Glu57=) | |
19 | g.1399881T>A | CA402996799 | GAMT | c.239A>T (p.Glu80Val) c.170A>T (p.Glu57Val) | |
19 | g.1399881T>C | CA402996795 | GAMT | c.239A>G (p.Glu80Gly) c.170A>G (p.Glu57Gly) | |
19 | g.1399881T>G | CA402996779 | GAMT | c.239A>C (p.Glu80Ala) c.170A>C (p.Glu57Ala) | |
19 | g.1399882C>A | CA402996803 | GAMT | c.238G>T (p.Glu80Ter) c.169G>T (p.Glu57Ter) | gnomAD v4 |
19 | g.1399882C>G | CA402996813 | GAMT | c.238G>C (p.Glu80Gln) c.169G>C (p.Glu57Gln) | |
19 | g.1399882C>T | CA402996806 | GAMT | c.238G>A (p.Glu80Lys) c.169G>A (p.Glu57Lys) | |
19 | g.1399883C>A | CA402996818 | GAMT | c.237G>T (p.Gln79His) c.168G>T (p.Gln56His) | |
19 | g.1399883C>G | CA402996820 | GAMT | c.237G>C (p.Gln79His) c.168G>C (p.Gln56His) | |
19 | g.1399883C>T | CA504730323 | GAMT | c.237G>A (p.Gln79=) c.168G>A (p.Gln56=) | ClinVar |
19 | g.1399884T>A | CA402996830 | GAMT | c.236A>T (p.Gln79Leu) c.167A>T (p.Gln56Leu) | gnomAD v4 |
19 | g.1399884T>C | CA402996834 | GAMT | c.236A>G (p.Gln79Arg) c.167A>G (p.Gln56Arg) | gnomAD v4 |
19 | g.1399884T>G | CA402996836 | GAMT | c.236A>C (p.Gln79Pro) c.167A>C (p.Gln56Pro) | |
19 | g.1399885G>A | CA402996840 | GAMT | c.235C>T (p.Gln79Ter) c.166C>T (p.Gln56Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399885G>C | CA402996841 | GAMT | c.235C>G (p.Gln79Glu) c.166C>G (p.Gln56Glu) | dbSNP |
19 | g.1399885G= | CA2317699548 | GAMT | c.235C= (p.Gln79=) c.166C= (p.Gln56=) | |
19 | g.1399885G>T | CA402996845 | GAMT | c.235C>A (p.Gln79Lys) c.166C>A (p.Gln56Lys) | gnomAD v4 |
19 | g.1399886C>A | CA504730325 | GAMT | c.234G>T (p.Val78=) c.165G>T (p.Val55=) | |
19 | g.1399886C>G | CA504730324 | GAMT | c.234G>C (p.Val78=) c.165G>C (p.Val55=) | |
19 | g.1399886C>T | CA504730326 | GAMT | c.234G>A (p.Val78=) c.165G>A (p.Val55=) | gnomAD v4 COSMIC COSMIC |
19 | g.1399887A= | CA2317699549 | GAMT | c.233T= (p.Val78=) c.164T= (p.Val55=) | |
19 | g.1399887A>C | CA402996849 | GAMT | c.233T>G (p.Val78Gly) c.164T>G (p.Val55Gly) | dbSNP |
19 | g.1399887A>G | CA402996854 | GAMT | c.233T>C (p.Val78Ala) c.164T>C (p.Val55Ala) | |
19 | g.1399887A>T | CA402996857 | GAMT | c.233T>A (p.Val78Glu) c.164T>A (p.Val55Glu) | ClinVar gnomAD v4 |
19 | g.1399888C>A | CA402996863 | GAMT | c.232G>T (p.Val78Leu) c.163G>T (p.Val55Leu) | gnomAD v4 |
19 | g.1399888C= | CA2317699550 | GAMT | c.232G= (p.Val78=) c.163G= (p.Val55=) | |
19 | g.1399888C>G | CA402996875 | GAMT | c.232G>C (p.Val78Leu) c.163G>C (p.Val55Leu) | |
19 | g.1399888C>T | CA9043759 | GAMT | c.232G>A (p.Val78Met) c.163G>A (p.Val55Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399889C>A | CA402996887 | GAMT | c.231G>T (p.Lys77Asn) c.162G>T (p.Lys54Asn) | |
19 | g.1399889C= | CA2317699551 | GAMT | c.231G= (p.Lys77=) c.162G= (p.Lys54=) | |
19 | g.1399889C>G | CA402996883 | GAMT | c.231G>C (p.Lys77Asn) c.162G>C (p.Lys54Asn) | |
19 | g.1399889C>T | CA304066681 | GAMT | c.231G>A (p.Lys77=) c.162G>A (p.Lys54=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399890T>A | CA402996895 | GAMT | c.230A>T (p.Lys77Met) c.161A>T (p.Lys54Met) | gnomAD v4 |
19 | g.1399890T>C | CA402996898 | GAMT | c.230A>G (p.Lys77Arg) c.161A>G (p.Lys54Arg) | ClinVar gnomAD v4 |
19 | g.1399890T>G | CA402996899 | GAMT | c.230A>C (p.Lys77Thr) c.161A>C (p.Lys54Thr) | |
19 | g.1399891T>A | CA402996903 | GAMT | c.229A>T (p.Lys77Ter) c.160A>T (p.Lys54Ter) | |
19 | g.1399891T>C | CA9043760 | GAMT | c.229A>G (p.Lys77Glu) c.160A>G (p.Lys54Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399891T>G | CA402996908 | GAMT | c.229A>C (p.Lys77Gln) c.160A>C (p.Lys54Gln) | |
19 | g.1399891T= | CA2317699552 | GAMT | c.229A= (p.Lys77=) c.160A= (p.Lys54=) | |
19 | g.1399892T>A | CA9043761 | GAMT | c.228A>T (p.Ser76=) c.159A>T (p.Ser53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399892T>C | CA504730337 | GAMT | c.228A>G (p.Ser76=) c.159A>G (p.Ser53=) | gnomAD v4 |
19 | g.1399892T>G | CA504730335 | GAMT | c.228A>C (p.Ser76=) c.159A>C (p.Ser53=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399892T= | CA2317699553 | GAMT | c.228A= (p.Ser76=) c.159A= (p.Ser53=) | |
19 | g.1399893G>A | CA241294 | GAMT | c.227C>T (p.Ser76Leu) c.158C>T (p.Ser53Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.1399893G>C | CA402996917 | GAMT | c.227C>G (p.Ser76Ter) c.158C>G (p.Ser53Ter) | |
19 | g.1399893G= | CA2317699554 | GAMT | c.227C= (p.Ser76=) c.158C= (p.Ser53=) | |
19 | g.1399893G>T | CA402996923 | GAMT | c.227C>A (p.Ser76Ter) c.158C>A (p.Ser53Ter) | |
19 | g.1399894A= | CA2317699555 | GAMT | c.226T= (p.Ser76=) c.157T= (p.Ser53=) | |
19 | g.1399894A>C | CA402996933 | GAMT | c.226T>G (p.Ser76Ala) c.157T>G (p.Ser53Ala) | |
19 | g.1399894A>G | CA402996936 | GAMT | c.226T>C (p.Ser76Pro) c.157T>C (p.Ser53Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399894A>T | CA402996939 | GAMT | c.226T>A (p.Ser76Thr) c.157T>A (p.Ser53Thr) | |
19 | g.1399895C>A | CA504730345 | GAMT | c.225G>T (p.Ala75=) c.156G>T (p.Ala52=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399895C= | CA2317699556 | GAMT | c.225G= (p.Ala75=) c.156G= (p.Ala52=) | |
19 | g.1399895C>G | CA504730347 | GAMT | c.225G>C (p.Ala75=) c.156G>C (p.Ala52=) | |
19 | g.1399895C>T | CA291013 | GAMT | c.225G>A (p.Ala75=) c.156G>A (p.Ala52=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399896G>A | CA402996954 | GAMT | c.224C>T (p.Ala75Val) c.155C>T (p.Ala52Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.1399896G>C | CA402996945 | GAMT | c.224C>G (p.Ala75Gly) c.155C>G (p.Ala52Gly) | |
19 | g.1399896G= | CA2317699557 | GAMT | c.224C= (p.Ala75=) c.155C= (p.Ala52=) | |
19 | g.1399896G>T | CA402996950 | GAMT | c.224C>A (p.Ala75Glu) c.155C>A (p.Ala52Glu) | dbSNP gnomAD v4 |
19 | g.1399897C>A | CA402996971 | GAMT | c.223G>T (p.Ala75Ser) c.154G>T (p.Ala52Ser) | |
19 | g.1399897C>G | CA402996975 | GAMT | c.223G>C (p.Ala75Pro) c.154G>C (p.Ala52Pro) | |
19 | g.1399897C>T | CA402996996 | GAMT | c.223G>A (p.Ala75Thr) c.154G>A (p.Ala52Thr) | gnomAD v4 |
19 | g.1399898T>A | CA504730353 | GAMT | c.222A>T (p.Ala74=) c.153A>T (p.Ala51=) | |
19 | g.1399898T>C | CA504730355 | GAMT | c.222A>G (p.Ala74=) c.153A>G (p.Ala51=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399898T>G | CA504730357 | GAMT | c.222A>C (p.Ala74=) c.153A>C (p.Ala51=) | |
19 | g.1399898T= | CA2317699558 | GAMT | c.222A= (p.Ala74=) c.153A= (p.Ala51=) |