UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1399730_1399880del | CA2695223157 | GAMT | c.242_327+65del c.173_258+65del | |
| 19 | g.1399840_1399897dup | CA2582641492 | GAMT | c.228_285dup (p.Phe96LysfsTer8) c.159_216dup (p.Phe73LysfsTer8) | 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=) | |
| 19 | g.1399899G>A | CA402997000 | GAMT | c.221C>T (p.Ala74Val) c.152C>T (p.Ala51Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1399899G>C | CA402997010 | GAMT | c.221C>G (p.Ala74Gly) c.152C>G (p.Ala51Gly) | |
| 19 | g.1399899G= | CA2317699559 | GAMT | c.221C= (p.Ala74=) c.152C= (p.Ala51=) | |
| 19 | g.1399899G>T | CA402997015 | GAMT | c.221C>A (p.Ala74Glu) c.152C>A (p.Ala51Glu) | gnomAD v4 |
| 19 | g.1399900C>A | CA402997016 | GAMT | c.220G>T (p.Ala74Ser) c.151G>T (p.Ala51Ser) | gnomAD v4 |
| 19 | g.1399900C= | CA2317699560 | GAMT | c.220G= (p.Ala74=) c.151G= (p.Ala51=) | |
| 19 | g.1399900C>G | CA402997017 | GAMT | c.220G>C (p.Ala74Pro) c.151G>C (p.Ala51Pro) | ClinVar gnomAD v4 |
| 19 | g.1399900C>T | CA9043762 | GAMT | c.220G>A (p.Ala74Thr) c.151G>A (p.Ala51Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399901G>A | CA504730367 | GAMT | c.219C>T (p.Ile73=) c.150C>T (p.Ile50=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.1399901G>C | CA402997018 | GAMT | c.219C>G (p.Ile73Met) c.150C>G (p.Ile50Met) | ClinVar |
| 19 | g.1399901G= | CA2317699561 | GAMT | c.219C= (p.Ile73=) c.150C= (p.Ile50=) | |
| 19 | g.1399901G>T | CA504730365 | GAMT | c.219C>A (p.Ile73=) c.150C>A (p.Ile50=) | |
| 19 | g.1399902A= | CA2317699562 | GAMT | c.218T= (p.Ile73=) c.149T= (p.Ile50=) | |
| 19 | g.1399902A>C | CA402997023 | GAMT | c.218T>G (p.Ile73Ser) c.149T>G (p.Ile50Ser) | |
| 19 | g.1399902A>G | CA402997019 | GAMT | c.218T>C (p.Ile73Thr) c.149T>C (p.Ile50Thr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399902A>T | CA402997021 | GAMT | c.218T>A (p.Ile73Asn) c.149T>A (p.Ile50Asn) | |
| 19 | g.1399903T>A | CA402997042 | GAMT | c.217A>T (p.Ile73Phe) c.148A>T (p.Ile50Phe) | |
| 19 | g.1399903T>C | CA208424 | GAMT | c.217A>G (p.Ile73Val) c.148A>G (p.Ile50Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399903T>G | CA402997063 | GAMT | c.217A>C (p.Ile73Leu) c.148A>C (p.Ile50Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399903T= | CA2317699563 | GAMT | c.217A= (p.Ile73=) c.148A= (p.Ile50=) | |
| 19 | g.1399904G>A | CA504730376 | GAMT | c.216C>T (p.Ala72=) c.147C>T (p.Ala49=) | gnomAD v4 |
| 19 | g.1399904G>C | CA504730379 | GAMT | c.216C>G (p.Ala72=) c.147C>G (p.Ala49=) | |
| 19 | g.1399904G>T | CA504730381 | GAMT | c.216C>A (p.Ala72=) c.147C>A (p.Ala49=) | |
| 19 | g.1399905G>A | CA402997080 | GAMT | c.215C>T (p.Ala72Val) c.146C>T (p.Ala49Val) | gnomAD v4 |
| 19 | g.1399905G>C | CA402997093 | GAMT | c.215C>G (p.Ala72Gly) c.146C>G (p.Ala49Gly) | |
| 19 | g.1399905G= | CA2317699564 | GAMT | c.215C= (p.Ala72=) c.146C= (p.Ala49=) | |
| 19 | g.1399905G>T | CA402997098 | GAMT | c.215C>A (p.Ala72Asp) c.146C>A (p.Ala49Asp) | dbSNP gnomAD v4 |
| 19 | g.1399906C>A | CA402997107 | GAMT | c.214G>T (p.Ala72Ser) c.145G>T (p.Ala49Ser) | gnomAD v4 |
| 19 | g.1399906C= | CA2317699565 | GAMT | c.214G= (p.Ala72=) c.145G= (p.Ala49=) | |
| 19 | g.1399906C>G | CA402997114 | GAMT | c.214G>C (p.Ala72Pro) c.145G>C (p.Ala49Pro) | |
| 19 | g.1399906C>T | CA402997124 | GAMT | c.214G>A (p.Ala72Thr) c.145G>A (p.Ala49Thr) | dbSNP gnomAD v4 |
| 19 | g.1399907C>A | CA402997128 | GAMT | c.213G>T (p.Met71Ile) c.144G>T (p.Met48Ile) | |
| 19 | g.1399907C>G | CA402997136 | GAMT | c.213G>C (p.Met71Ile) c.144G>C (p.Met48Ile) | |
| 19 | g.1399907C>T | CA402997140 | GAMT | c.213G>A (p.Met71Ile) c.144G>A (p.Met48Ile) | |
| 19 | g.1399908A= | CA2317699566 | GAMT | c.212T= (p.Met71=) c.143T= (p.Met48=) | |
| 19 | g.1399908A>C | CA402997146 | GAMT | c.212T>G (p.Met71Arg) c.143T>G (p.Met48Arg) | |
| 19 | g.1399908A>G | CA402997145 | GAMT | c.212T>C (p.Met71Thr) c.143T>C (p.Met48Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399908A>T | CA402997144 | GAMT | c.212T>A (p.Met71Lys) c.143T>A (p.Met48Lys) | gnomAD v4 |
| 19 | g.1399909T>A | CA402997147 | GAMT | c.211A>T (p.Met71Leu) c.142A>T (p.Met48Leu) | |
| 19 | g.1399909T>C | CA9043763 | GAMT | c.211A>G (p.Met71Val) c.142A>G (p.Met48Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399909T>G | CA402997148 | GAMT | c.211A>C (p.Met71Leu) c.142A>C (p.Met48Leu) | |
| 19 | g.1399909T= | CA2317699567 | GAMT | c.211A= (p.Met71=) c.142A= (p.Met48=) | |
| 19 | g.1399910G>A | CA504730410 | GAMT | c.210C>T (p.Gly70=) c.141C>T (p.Gly47=) | gnomAD v4 |
| 19 | g.1399910G>C | CA504730413 | GAMT | c.210C>G (p.Gly70=) c.141C>G (p.Gly47=) | |
| 19 | g.1399910G>T | CA504730415 | GAMT | c.210C>A (p.Gly70=) c.141C>A (p.Gly47=) | |
| 19 | g.1399911C>A | CA402997149 | GAMT | c.209G>T (p.Gly70Val) c.140G>T (p.Gly47Val) | |
| 19 | g.1399911C>G | CA402997152 | GAMT | c.209G>C (p.Gly70Ala) c.140G>C (p.Gly47Ala) | |
| 19 | g.1399911C>T | CA402997157 | GAMT | c.209G>A (p.Gly70Asp) c.140G>A (p.Gly47Asp) | |
| 19 | g.1399912C>A | CA402997160 | GAMT | c.208G>T (p.Gly70Cys) c.139G>T (p.Gly47Cys) | gnomAD v4 |
| 19 | g.1399912C= | CA2317699568 | GAMT | c.208G= (p.Gly70=) c.139G= (p.Gly47=) | |
| 19 | g.1399912C>G | CA402997164 | GAMT | c.208G>C (p.Gly70Arg) c.139G>C (p.Gly47Arg) | |
| 19 | g.1399912C>T | CA402997165 | GAMT | c.208G>A (p.Gly70Ser) c.139G>A (p.Gly47Ser) | dbSNP |
| 19 | g.1399913A= | CA2317699569 | GAMT | c.207T= (p.Phe69=) c.138T= (p.Phe46=) | |
| 19 | g.1399913A>C | CA402997175 | GAMT | c.207T>G (p.Phe69Leu) c.138T>G (p.Phe46Leu) | |
| 19 | g.1399913A>G | CA504730430 | GAMT | c.207T>C (p.Phe69=) c.138T>C (p.Phe46=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399913A>T | CA402997173 | GAMT | c.207T>A (p.Phe69Leu) c.138T>A (p.Phe46Leu) | |
| 19 | g.1399913_1399915dup | CA2582641496 | GAMT | c.205_207dup (p.Phe69_Gly70insPhe) c.136_138dup (p.Phe46_Gly47insPhe) | gnomAD v4 |
| 19 | g.1399914A>C | CA402997180 | GAMT | c.206T>G (p.Phe69Cys) c.137T>G (p.Phe46Cys) | |
| 19 | g.1399914A>G | CA402997184 | GAMT | c.206T>C (p.Phe69Ser) c.137T>C (p.Phe46Ser) | gnomAD v4 |
| 19 | g.1399914A>T | CA402997187 | GAMT | c.206T>A (p.Phe69Tyr) c.137T>A (p.Phe46Tyr) | |
| 19 | g.1399915A>C | CA402997190 | GAMT | c.205T>G (p.Phe69Val) c.136T>G (p.Phe46Val) | |
| 19 | g.1399915A>G | CA402997193 | GAMT | c.205T>C (p.Phe69Leu) c.136T>C (p.Phe46Leu) | |
| 19 | g.1399915A>T | CA402997195 | GAMT | c.205T>A (p.Phe69Ile) c.136T>A (p.Phe46Ile) | |
| 19 | g.1399916G>A | CA504730446 | GAMT | c.204C>T (p.Gly68=) c.135C>T (p.Gly45=) | |
| 19 | g.1399916G>C | CA504730449 | GAMT | c.204C>G (p.Gly68=) c.135C>G (p.Gly45=) | |
| 19 | g.1399916G>T | CA504730444 | GAMT | c.204C>A (p.Gly68=) c.135C>A (p.Gly45=) | |
| 19 | g.1399917C>A | CA402997196 | GAMT | c.203G>T (p.Gly68Val) c.134G>T (p.Gly45Val) | gnomAD v4 |
| 19 | g.1399917C= | CA2317699570 | GAMT | c.203G= (p.Gly68=) c.134G= (p.Gly45=) | |
| 19 | g.1399917C>G | CA402997201 | GAMT | c.203G>C (p.Gly68Ala) c.134G>C (p.Gly45Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399917C>T | CA402997199 | GAMT | c.203G>A (p.Gly68Asp) c.134G>A (p.Gly45Asp) | dbSNP |
| 19 | g.1399919del | CA2582641497 | GAMT | c.203del (p.Gly68AlafsTer?) c.134del (p.Gly45AlafsTer?) | gnomAD v4 |
| 19 | g.1399918C>A | CA402997207 | GAMT | c.202G>T (p.Gly68Cys) c.133G>T (p.Gly45Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399918C= | CA2317699571 | GAMT | c.202G= (p.Gly68=) c.133G= (p.Gly45=) | |
| 19 | g.1399918C>G | CA402997210 | GAMT | c.202G>C (p.Gly68Arg) c.133G>C (p.Gly45Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1399918C>T | CA402997212 | GAMT | c.202G>A (p.Gly68Ser) c.133G>A (p.Gly45Ser) | gnomAD v4 |
| 19 | g.1399919C>A | CA504730462 | GAMT | c.201G>T (p.Val67=) c.132G>T (p.Val44=) | gnomAD v4 |
| 19 | g.1399919C= | CA2317699572 | GAMT | c.201G= (p.Val67=) c.132G= (p.Val44=) | |
| 19 | g.1399919C>G | CA504730465 | GAMT | c.201G>C (p.Val67=) c.132G>C (p.Val44=) | |
| 19 | g.1399919C>T | CA9043764 | GAMT | c.201G>A (p.Val67=) c.132G>A (p.Val44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399920A= | CA2317699573 | GAMT | c.200T= (p.Val67=) c.131T= (p.Val44=) | |
| 19 | g.1399920A>C | CA402997215 | GAMT | c.200T>G (p.Val67Gly) c.131T>G (p.Val44Gly) | |
| 19 | g.1399920A>G | CA402997216 | GAMT | c.200T>C (p.Val67Ala) c.131T>C (p.Val44Ala) | dbSNP gnomAD v4 |
| 19 | g.1399920A>T | CA402997217 | GAMT | c.200T>A (p.Val67Glu) c.131T>A (p.Val44Glu) | ClinVar dbSNP |
| 19 | g.1399921C>A | CA402997218 | GAMT | c.199G>T (p.Val67Leu) c.130G>T (p.Val44Leu) | |
| 19 | g.1399921C= | CA2317699574 | GAMT | c.199G= (p.Val67=) c.130G= (p.Val44=) | |
| 19 | g.1399921C>G | CA402997219 | GAMT | c.199G>C (p.Val67Leu) c.130G>C (p.Val44Leu) | |
| 19 | g.1399921C>T | CA402997221 | GAMT | c.199G>A (p.Val67Met) c.130G>A (p.Val44Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1399922C>A | CA402997228 | GAMT | c.198G>T (p.Glu66Asp) c.129G>T (p.Glu43Asp) | |
| 19 | g.1399922C= | CA2317699575 | GAMT | c.198G= (p.Glu66=) c.129G= (p.Glu43=) | |
| 19 | g.1399922C>G | CA402997224 | GAMT | c.198G>C (p.Glu66Asp) c.129G>C (p.Glu43Asp) | |
| 19 | g.1399922C>T | CA9043765 | GAMT | c.198G>A (p.Glu66=) c.129G>A (p.Glu43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399923T>A | CA402997230 | GAMT | c.197A>T (p.Glu66Val) c.128A>T (p.Glu43Val) | |
| 19 | g.1399923T>C | CA402997233 | GAMT | c.197A>G (p.Glu66Gly) c.128A>G (p.Glu43Gly) | |
| 19 | g.1399923T>G | CA402997236 | GAMT | c.197A>C (p.Glu66Ala) c.128A>C (p.Glu43Ala) | |
| 19 | g.1399924C>A | CA402997240 | GAMT | c.196G>T (p.Glu66Ter) c.127G>T (p.Glu43Ter) | |
| 19 | g.1399924C>G | CA402997244 | GAMT | c.196G>C (p.Glu66Gln) c.127G>C (p.Glu43Gln) | |
| 19 | g.1399924C>T | CA402997246 | GAMT | c.196G>A (p.Glu66Lys) c.127G>A (p.Glu43Lys) | |
| 19 | g.1399925C>A | CA504730493 | GAMT | c.195G>T (p.Leu65=) c.126G>T (p.Leu42=) | gnomAD v4 |
| 19 | g.1399925C>G | CA504730494 | GAMT | c.195G>C (p.Leu65=) c.126G>C (p.Leu42=) | |
| 19 | g.1399925C>T | CA504730495 | GAMT | c.195G>A (p.Leu65=) c.126G>A (p.Leu42=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399926A>C | CA402997247 | GAMT | c.194T>G (p.Leu65Arg) c.125T>G (p.Leu42Arg) | |
| 19 | g.1399926A>G | CA402997251 | GAMT | c.194T>C (p.Leu65Pro) c.125T>C (p.Leu42Pro) | gnomAD v4 |
| 19 | g.1399926A>T | CA402997252 | GAMT | c.194T>A (p.Leu65Gln) c.125T>A (p.Leu42Gln) | |
| 19 | g.1399927G>A | CA504730496 | GAMT | c.193C>T (p.Leu65=) c.124C>T (p.Leu42=) | |
| 19 | g.1399927G>C | CA402997253 | GAMT | c.193C>G (p.Leu65Val) c.124C>G (p.Leu42Val) | |
| 19 | g.1399927G>T | CA402997256 | GAMT | c.193C>A (p.Leu65Met) c.124C>A (p.Leu42Met) | gnomAD v4 |
| 19 | g.1399928G>A | CA504730499 | GAMT | c.192C>T (p.Val64=) c.123C>T (p.Val41=) | |
| 19 | g.1399928G>C | CA9043766 | GAMT | c.192C>G (p.Val64=) c.123C>G (p.Val41=) | dbSNP ExAC gnomAD v2 |
| 19 | g.1399928G= | CA2317699576 | GAMT | c.192C= (p.Val64=) c.123C= (p.Val41=) | |
| 19 | g.1399928G>T | CA504730497 | GAMT | c.192C>A (p.Val64=) c.123C>A (p.Val41=) | |
| 19 | g.1399929A>C | CA402997264 | GAMT | c.191T>G (p.Val64Gly) c.122T>G (p.Val41Gly) | |
| 19 | g.1399929A>G | CA402997267 | GAMT | c.191T>C (p.Val64Ala) c.122T>C (p.Val41Ala) | |
| 19 | g.1399929A>T | CA402997262 | GAMT | c.191T>A (p.Val64Asp) c.122T>A (p.Val41Asp) | |
| 19 | g.1399930C>A | CA402997277 | GAMT | c.190G>T (p.Val64Phe) c.121G>T (p.Val41Phe) | |
| 19 | g.1399930C= | CA2317699577 | GAMT | c.190G= (p.Val64=) c.121G= (p.Val41=) | |
| 19 | g.1399930C>G | CA402997282 | GAMT | c.190G>C (p.Val64Leu) c.121G>C (p.Val41Leu) | gnomAD v4 |
| 19 | g.1399930C>T | CA402997285 | GAMT | c.190G>A (p.Val64Ile) c.121G>A (p.Val41Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399931C>A | CA504730510 | GAMT | c.189G>T (p.Arg63=) c.120G>T (p.Arg40=) | gnomAD v4 |
| 19 | g.1399931C= | CA2317699578 | GAMT | c.189G= (p.Arg63=) c.120G= (p.Arg40=) | |
| 19 | g.1399931C>G | CA9043767 | GAMT | c.189G>C (p.Arg63=) c.120G>C (p.Arg40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399931C>T | CA504730513 | GAMT | c.189G>A (p.Arg63=) c.120G>A (p.Arg40=) | gnomAD v4 |
| 19 | g.1399931_1399932insA | CA9043768 | GAMT | c.188_189insT (p.Val64GlyfsTer21) c.119_120insT (p.Val41GlyfsTer21) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399932C>A | CA402997299 | GAMT | c.188G>T (p.Arg63Leu) c.119G>T (p.Arg40Leu) | gnomAD v4 |
| 19 | g.1399932C= | CA2317699579 | GAMT | c.188G= (p.Arg63=) c.119G= (p.Arg40=) | |
| 19 | g.1399932C>G | CA402997295 | GAMT | c.188G>C (p.Arg63Pro) c.119G>C (p.Arg40Pro) | gnomAD v4 |
| 19 | g.1399932C>T | CA9043769 | GAMT | c.188G>A (p.Arg63Gln) c.119G>A (p.Arg40Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399933G>A | CA9043770 | GAMT | c.187C>T (p.Arg63Trp) c.118C>T (p.Arg40Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399933G>C | CA402997310 | GAMT | c.187C>G (p.Arg63Gly) c.118C>G (p.Arg40Gly) | |
| 19 | g.1399933G= | CA2317699580 | GAMT | c.187C= (p.Arg63=) c.118C= (p.Arg40=) | |
| 19 | g.1399933G>T | CA9043771 | GAMT | c.187C>A (p.Arg63=) c.118C>A (p.Arg40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399934dup | CA2582641498 | GAMT | c.187dup (p.Arg63ProfsTer22) c.118dup (p.Arg40ProfsTer22) | gnomAD v4 |
| 19 | g.1399934G>A | CA504730530 | GAMT | c.186C>T (p.Gly62=) c.117C>T (p.Gly39=) | gnomAD v4 |
| 19 | g.1399934G>C | CA504730532 | GAMT | c.186C>G (p.Gly62=) c.117C>G (p.Gly39=) | gnomAD v4 |
| 19 | g.1399934G>T | CA504730534 | GAMT | c.186C>A (p.Gly62=) c.117C>A (p.Gly39=) | gnomAD v4 |
| 19 | g.1399934_1399935delinsGC | CA2317699581 | GAMT | c.185_186delinsGC (p.Gly62=) c.116_117delinsGC (p.Gly39=) | |
| 19 | g.1399935C>A | CA9043772 | GAMT | c.185G>T (p.Gly62Val) c.116G>T (p.Gly39Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399935C= | CA2317699582 | GAMT | c.185G= (p.Gly62=) c.116G= (p.Gly39=) | |
| 19 | g.1399935C>G | CA402997319 | GAMT | c.185G>C (p.Gly62Ala) c.116G>C (p.Gly39Ala) | gnomAD v4 |
| 19 | g.1399935C>T | CA402997325 | GAMT | c.185G>A (p.Gly62Asp) c.116G>A (p.Gly39Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.1399939del | CA631044786 | GAMT | c.185del c.116del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399936C>A | CA402997330 | GAMT | c.184G>T (p.Gly62Cys) c.115G>T (p.Gly39Cys) | gnomAD v4 |
| 19 | g.1399936C= | CA2317699583 | GAMT | c.184G= (p.Gly62=) c.115G= (p.Gly39=) | |
| 19 | g.1399936C>G | CA402997343 | GAMT | c.184G>C (p.Gly62Arg) c.115G>C (p.Gly39Arg) | |
| 19 | g.1399936C>T | CA402997327 | GAMT | c.184G>A (p.Gly62Ser) c.115G>A (p.Gly39Ser) | dbSNP gnomAD v2 |
| 19 | g.1399937C>A | CA504730548 | GAMT | c.183G>T (p.Gly61=) c.114G>T (p.Gly38=) | ClinVar dbSNP |
| 19 | g.1399937C= | CA2317699584 | GAMT | c.183G= (p.Gly61=) c.114G= (p.Gly38=) | |
| 19 | g.1399937C>G | CA504730550 | GAMT | c.183G>C (p.Gly61=) c.114G>C (p.Gly38=) | |
| 19 | g.1399937C>T | CA504730553 | GAMT | c.183G>A (p.Gly61=) c.114G>A (p.Gly38=) | ClinVar |
| 19 | g.1399938C>A | CA402997348 | GAMT | c.182G>T (p.Gly61Val) c.113G>T (p.Gly38Val) | gnomAD v4 |
| 19 | g.1399938C= | CA2317699586 | GAMT | c.182G= (p.Gly61=) c.113G= (p.Gly38=) | |
| 19 | g.1399938C>G | CA402997353 | GAMT | c.182G>C (p.Gly61Ala) c.113G>C (p.Gly38Ala) | |
| 19 | g.1399938C>T | CA9043773 | GAMT | c.182G>A (p.Gly61Glu) c.113G>A (p.Gly38Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399938_1399941dup | CA2317699585 | GAMT | c.182-3_182dup c.113-3_113dup | ClinVar dbSNP |
| 19 | g.1399939C>A | CA402997360 | GAMT | c.182-1G>T (n.182-1G>T) c.113-1G>T (n.113-1G>T) | |
| 19 | g.1399939C>G | CA402997362 | GAMT | c.182-1G>C (n.182-1G>C) c.113-1G>C (n.113-1G>C) | |
| 19 | g.1399939C>T | CA402997361 | GAMT | c.182-1G>A (n.182-1G>A) c.113-1G>A (n.113-1G>A) | gnomAD v4 |
| 19 | g.1399940T>A | CA402997365 | GAMT | c.182-2A>T (n.182-2A>T) c.113-2A>T (n.113-2A>T) | |
| 19 | g.1399940T>C | CA402997368 | GAMT | c.182-2A>G (n.182-2A>G) c.113-2A>G (n.113-2A>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399940T>G | CA402997370 | GAMT | c.182-2A>C (n.182-2A>C) c.113-2A>C (n.113-2A>C) | |
| 19 | g.1399940T= | CA2317699587 | GAMT | c.182-2A= (n.182-2A=) c.113-2A= (n.113-2A=) | |
| 19 | g.1399941G>A | CA2582641499 | GAMT | c.182-3C>T (n.182-3C>T) c.113-3C>T (n.113-3C>T) | gnomAD v4 |
| 19 | g.1399941G>C | CA2582641501 | GAMT | c.182-3C>G (n.182-3C>G) c.113-3C>G (n.113-3C>G) | gnomAD v4 |
| 19 | g.1399941G>T | CA2582641500 | GAMT | c.182-3C>A (n.182-3C>A) c.113-3C>A (n.113-3C>A) | gnomAD v4 |
| 19 | g.1399942G>A | CA631044787 | GAMT | c.182-4C>T (n.182-4C>T) c.113-4C>T (n.113-4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1399942G= | CA2317699588 | GAMT | c.182-4C= (n.182-4C=) c.113-4C= (n.113-4C=) | |
| 19 | g.1399942G>T | CA645614612 | GAMT | c.182-4C>A (n.182-4C>A) c.113-4C>A (n.113-4C>A) | gnomAD v4 COSMIC COSMIC |
| 19 | g.1399943G>T | CA2582641503 | GAMT | c.182-5C>A (n.182-5C>A) c.113-5C>A (n.113-5C>A) | gnomAD v4 |
| 19 | g.1399944_1399946del | CA2582641502 | GAMT | c.182-7_182-5del (n.182-7_182-5del) c.113-7_113-5del (n.113-7_113-5del) | gnomAD v4 |
| 19 | g.1399944C>T | CA2582641504 | GAMT | c.182-6G>A (n.182-6G>A) c.113-6G>A (n.113-6G>A) | gnomAD v4 |
| 19 | g.1399945A>G | CA2582641505 | GAMT | c.182-7T>C (n.182-7T>C) c.113-7T>C (n.113-7T>C) | gnomAD v4 |
| 19 | g.1399946G>C | CA2582641506 | GAMT | c.182-8C>G (n.182-8C>G) c.113-8C>G (n.113-8C>G) | gnomAD v4 |
| 19 | g.1399946G>T | CA2582641507 | GAMT | c.182-8C>A (n.182-8C>A) c.113-8C>A (n.113-8C>A) | gnomAD v4 |
| 19 | g.1399947A= | CA2317699589 | GAMT | c.182-9T= (n.182-9T=) c.113-9T= (n.113-9T=) | |
| 19 | g.1399947A>T | CA2317699590 | GAMT | c.182-9T>A (n.182-9T>A) c.113-9T>A (n.113-9T>A) | dbSNP |
| 19 | g.1399950_1399951del | CA2582641508 | GAMT | c.182-10_182-9del (n.182-10_182-9del) c.113-10_113-9del (n.113-10_113-9del) | gnomAD v4 |
| 19 | g.1399948C>A | CA2499225407 | GAMT | c.182-10G>T (n.182-10G>T) c.113-10G>T (n.113-10G>T) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399948C= | CA2317699591 | GAMT | c.182-10G= (n.182-10G=) c.113-10G= (n.113-10G=) | |
| 19 | g.1399948C>T | CA631044788 | GAMT | c.182-10G>A (n.182-10G>A) c.113-10G>A (n.113-10G>A) | dbSNP gnomAD v2 |