| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1401290_1401320del | CA2499225408 | GAMT | c.158_181+7del c.112+46_112+76del (n.112+46_112+76del) | ClinVar dbSNP |
| 19 | g.1401293_1401317dup | CA2582641905 | GAMT | c.163_181+6dup c.112+51_112+75dup (n.112+51_112+75dup) | gnomAD v4 |
| 19 | g.1401293_1401317del | CA2499225409 | GAMT | c.163_181+6del c.112+51_112+75del (n.112+51_112+75del) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401306_1401313del | CA2573155798 | GAMT | c.164_171del (p.Ala55ValfsTer27) c.112+52_112+59del (n.112+52_112+59del) | ClinVar dbSNP |
| 19 | g.1401315_1401317dup | CA314852 | GAMT | c.169_171dup (p.Ala57_Ser58insAla) c.112+57_112+59dup (n.112+57_112+59dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1401315_1401317del | CA631301058 | GAMT | c.169_171del (p.Ala57del) c.112+57_112+59del (n.112+57_112+59del) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401309G>A | CA304067248 | GAMT | c.168C>T (p.Ala56=) c.112+56C>T (n.112+56C>T) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401309G>C | CA504731605 | GAMT | c.168C>G (p.Ala56=) c.112+56C>G (n.112+56C>G) | |
| 19 | g.1401309G= | CA2317700379 | GAMT | c.168C= (p.Ala56=) c.112+56C= (n.112+56C=) | |
| 19 | g.1401309G>T | CA504731606 | GAMT | c.168C>A (p.Ala56=) c.112+56C>A (n.112+56C>A) | gnomAD v4 |
| 19 | g.1401310G>A | CA9043793 | GAMT | c.167C>T (p.Ala56Val) c.112+55C>T (n.112+55C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401310G>C | CA402998011 | GAMT | c.167C>G (p.Ala56Gly) c.112+55C>G (n.112+55C>G) | |
| 19 | g.1401310G= | CA2317700380 | GAMT | c.167C= (p.Ala56=) c.112+55C= (n.112+55C=) | |
| 19 | g.1401310G>T | CA402998013 | GAMT | c.167C>A (p.Ala56Asp) c.112+55C>A (n.112+55C>A) | gnomAD v4 |
| 19 | g.1401311C>A | CA402998014 | GAMT | c.166G>T (p.Ala56Ser) c.112+54G>T (n.112+54G>T) | gnomAD v4 |
| 19 | g.1401311C>G | CA402998016 | GAMT | c.166G>C (p.Ala56Pro) c.112+54G>C (n.112+54G>C) | |
| 19 | g.1401311C>T | CA402998018 | GAMT | c.166G>A (p.Ala56Thr) c.112+54G>A (n.112+54G>A) | ClinVar gnomAD v4 |
| 19 | g.1401312G>A | CA304067252 | GAMT | c.165C>T (p.Ala55=) c.112+53C>T (n.112+53C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401312G>C | CA504731607 | GAMT | c.165C>G (p.Ala55=) c.112+53C>G (n.112+53C>G) | gnomAD v4 |
| 19 | g.1401312G= | CA2317700381 | GAMT | c.165C= (p.Ala55=) c.112+53C= (n.112+53C=) | |
| 19 | g.1401312G>T | CA9043794 | GAMT | c.165C>A (p.Ala55=) c.112+53C>A (n.112+53C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1401313G>A | CA402998020 | GAMT | c.164C>T (p.Ala55Val) c.112+52C>T (n.112+52C>T) | dbSNP gnomAD v4 |
| 19 | g.1401313G>C | CA402998021 | GAMT | c.164C>G (p.Ala55Gly) c.112+52C>G (n.112+52C>G) | |
| 19 | g.1401313G= | CA2317700382 | GAMT | c.164C= (p.Ala55=) c.112+52C= (n.112+52C=) | |
| 19 | g.1401313G>T | CA402998023 | GAMT | c.164C>A (p.Ala55Asp) c.112+52C>A (n.112+52C>A) | gnomAD v4 |
| 19 | g.1401314C>A | CA402998024 | GAMT | c.163G>T (p.Ala55Ser) c.112+51G>T (n.112+51G>T) | gnomAD v4 |
| 19 | g.1401314C= | CA2317700383 | GAMT | c.163G= (p.Ala55=) c.112+51G= (n.112+51G=) | |
| 19 | g.1401314C>G | CA402998025 | GAMT | c.163G>C (p.Ala55Pro) c.112+51G>C (n.112+51G>C) | gnomAD v4 |
| 19 | g.1401314C>T | CA402998026 | GAMT | c.163G>A (p.Ala55Thr) c.112+51G>A (n.112+51G>A) | dbSNP gnomAD v4 |
| 19 | g.1401315G>A | CA504731610 | GAMT | c.162C>T (p.Ala54=) c.112+50C>T (n.112+50C>T) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401315G>C | CA504731609 | GAMT | c.162C>G (p.Ala54=) c.112+50C>G (n.112+50C>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401315G= | CA2317700384 | GAMT | c.162C= (p.Ala54=) c.112+50C= (n.112+50C=) | |
| 19 | g.1401315G>T | CA504731608 | GAMT | c.162C>A (p.Ala54=) c.112+50C>A (n.112+50C>A) | gnomAD v4 |
| 19 | g.1401316G>A | CA402998032 | GAMT | c.161C>T (p.Ala54Val) c.112+49C>T (n.112+49C>T) | gnomAD v4 |
| 19 | g.1401316G>C | CA402998031 | GAMT | c.161C>G (p.Ala54Gly) c.112+49C>G (n.112+49C>G) | |
| 19 | g.1401316G>T | CA402998029 | GAMT | c.161C>A (p.Ala54Asp) c.112+49C>A (n.112+49C>A) | gnomAD v4 |
| 19 | g.1401316_1401318dup | CA9043795 | GAMT | c.159_161dup (p.Ala54_Ala55insAla) c.112+47_112+49dup (n.112+47_112+49dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1401316_1401341delinsGCCAGCGCGTGCATATAGGGGGTCTC | CA2317700385 | GAMT | c.136_161delinsGAGACCCCCTATATGCACGCGCTGGC (p.Glu46=) c.112+24_112+49delinsGAGACCCCCTATATGCACGCGCTGGC (n.112+24_112+49delinsGAGACCCCCTATATGCACGCGCTGGC) | |
| 19 | g.1401317C>A | CA402998034 | GAMT | c.160G>T (p.Ala54Ser) c.112+48G>T (n.112+48G>T) | gnomAD v4 |
| 19 | g.1401317C= | CA2317700386 | GAMT | c.160G= (p.Ala54=) c.112+48G= (n.112+48G=) | |
| 19 | g.1401317C>G | CA402998035 | GAMT | c.160G>C (p.Ala54Pro) c.112+48G>C (n.112+48G>C) | ClinVar dbSNP gnomAD v2 |
| 19 | g.1401317C>T | CA402998039 | GAMT | c.160G>A (p.Ala54Thr) c.112+48G>A (n.112+48G>A) | gnomAD v4 COSMIC COSMIC |
| 19 | g.1401324_1401348del | CA631301059 | GAMT | c.136_160del (p.Glu46ProfsTer?) c.112+24_112+48del (n.112+24_112+48del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401318C>A | CA504731611 | GAMT | c.159G>T (p.Leu53=) c.112+47G>T (n.112+47G>T) | gnomAD v4 |
| 19 | g.1401318C>G | CA504731612 | GAMT | c.159G>C (p.Leu53=) c.112+47G>C (n.112+47G>C) | |
| 19 | g.1401318C>T | CA504731613 | GAMT | c.159G>A (p.Leu53=) c.112+47G>A (n.112+47G>A) | gnomAD v4 |
| 19 | g.1401319A>C | CA402998040 | GAMT | c.158T>G (p.Leu53Arg) c.112+46T>G (n.112+46T>G) | |
| 19 | g.1401319A>G | CA402998042 | GAMT | c.158T>C (p.Leu53Pro) c.112+46T>C (n.112+46T>C) | gnomAD v4 |
| 19 | g.1401319A>T | CA402998043 | GAMT | c.158T>A (p.Leu53Gln) c.112+46T>A (n.112+46T>A) | gnomAD v4 |
| 19 | g.1401319_1401320delinsCT | CA2580096090 | GAMT | c.157_158delinsAG (p.Leu53Arg) c.112+45_112+46delinsAG (n.112+45_112+46delinsAG) | ClinVar |
| 19 | g.1401320G>A | CA504731614 | GAMT | c.157C>T (p.Leu53=) c.112+45C>T (n.112+45C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401320G>C | CA402998044 | GAMT | c.157C>G (p.Leu53Val) c.112+45C>G (n.112+45C>G) | |
| 19 | g.1401320G= | CA2317700387 | GAMT | c.157C= (p.Leu53=) c.112+45C= (n.112+45C=) | |
| 19 | g.1401320G>T | CA402998045 | GAMT | c.157C>A (p.Leu53Met) c.112+45C>A (n.112+45C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401321C>A | CA504731615 | GAMT | c.156G>T (p.Ala52=) c.112+44G>T (n.112+44G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401321C= | CA2317700388 | GAMT | c.156G= (p.Ala52=) c.112+44G= (n.112+44G=) | |
| 19 | g.1401321C>G | CA504731617 | GAMT | c.156G>C (p.Ala52=) c.112+44G>C (n.112+44G>C) | gnomAD v4 |
| 19 | g.1401321C>T | CA504731616 | GAMT | c.156G>A (p.Ala52=) c.112+44G>A (n.112+44G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.1401322G>A | CA402998046 | GAMT | c.155C>T (p.Ala52Val) c.112+43C>T (n.112+43C>T) | gnomAD v4 |
| 19 | g.1401322G>C | CA9043796 | GAMT | c.155C>G (p.Ala52Gly) c.112+43C>G (n.112+43C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1401322G= | CA2317700389 | GAMT | c.155C= (p.Ala52=) c.112+43C= (n.112+43C=) | |
| 19 | g.1401322G>T | CA402998047 | GAMT | c.155C>A (p.Ala52Glu) c.112+43C>A (n.112+43C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401322_1401323delinsAA | CA314850 | GAMT | c.154_155delinsTT (p.Ala52Leu) c.112+42_112+43delinsTT (n.112+42_112+43delinsTT) | ClinVar dbSNP |
| 19 | g.1401322_1401323delinsGC | CA2317700390 | GAMT | c.154_155delinsGC (p.Ala52=) c.112+42_112+43delinsGC (n.112+42_112+43delinsGC) | |
| 19 | g.1401323C>A | CA402998048 | GAMT | c.154G>T (p.Ala52Ser) c.112+42G>T (n.112+42G>T) | ClinVar gnomAD v4 |
| 19 | g.1401323C= | CA2317700391 | GAMT | c.154G= (p.Ala52=) c.112+42G= (n.112+42G=) | |
| 19 | g.1401323C>G | CA402998049 | GAMT | c.154G>C (p.Ala52Pro) c.112+42G>C (n.112+42G>C) | dbSNP gnomAD v4 |
| 19 | g.1401323C>T | CA304067259 | GAMT | c.154G>A (p.Ala52Thr) c.112+42G>A (n.112+42G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401324G>A | CA9043797 | GAMT | c.153C>T (p.His51=) c.112+41C>T (n.112+41C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401324G>C | CA304067266 | GAMT | c.153C>G (p.His51Gln) c.112+41C>G (n.112+41C>G) | dbSNP |
| 19 | g.1401324G= | CA2317700392 | GAMT | c.153C= (p.His51=) c.112+41C= (n.112+41C=) | |
| 19 | g.1401324G>T | CA402998050 | GAMT | c.153C>A (p.His51Gln) c.112+41C>A (n.112+41C>A) | gnomAD v4 |
| 19 | g.1401325T>A | CA402998051 | GAMT | c.152A>T (p.His51Leu) c.112+40A>T (n.112+40A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401325T>C | CA402998052 | GAMT | c.152A>G (p.His51Arg) c.112+40A>G (n.112+40A>G) | gnomAD v4 |
| 19 | g.1401325T>G | CA402998053 | GAMT | c.152A>C (p.His51Pro) c.112+40A>C (n.112+40A>C) | ClinVar |
| 19 | g.1401325T= | CA2317700393 | GAMT | c.152A= (p.His51=) c.112+40A= (n.112+40A=) | |
| 19 | g.1401326G>A | CA402998054 | GAMT | c.151C>T (p.His51Tyr) c.112+39C>T (n.112+39C>T) | dbSNP gnomAD v4 |
| 19 | g.1401326G>C | CA402998055 | GAMT | c.151C>G (p.His51Asp) c.112+39C>G (n.112+39C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401326G= | CA2317700394 | GAMT | c.151C= (p.His51=) c.112+39C= (n.112+39C=) | |
| 19 | g.1401326G>T | CA402998056 | GAMT | c.151C>A (p.His51Asn) c.112+39C>A (n.112+39C>A) | gnomAD v4 |
| 19 | g.1401327C>A | CA402998057 | GAMT | c.150G>T (p.Met50Ile) c.112+38G>T (n.112+38G>T) | dbSNP gnomAD v4 |
| 19 | g.1401327C= | CA2317700395 | GAMT | c.150G= (p.Met50=) c.112+38G= (n.112+38G=) | |
| 19 | g.1401327C>G | CA402998059 | GAMT | c.150G>C (p.Met50Ile) c.112+38G>C (n.112+38G>C) | |
| 19 | g.1401327C>T | CA402998058 | GAMT | c.150G>A (p.Met50Ile) c.112+38G>A (n.112+38G>A) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401328A>C | CA402998060 | GAMT | c.149T>G (p.Met50Arg) c.112+37T>G (n.112+37T>G) | |
| 19 | g.1401328A>G | CA402998061 | GAMT | c.149T>C (p.Met50Thr) c.112+37T>C (n.112+37T>C) | gnomAD v4 |
| 19 | g.1401328A>T | CA402998062 | GAMT | c.149T>A (p.Met50Lys) c.112+37T>A (n.112+37T>A) | gnomAD v4 |
| 19 | g.1401329T>A | CA402998063 | GAMT | c.148A>T (p.Met50Leu) c.112+36A>T (n.112+36A>T) | gnomAD v4 |
| 19 | g.1401329T>C | CA402998064 | GAMT | c.148A>G (p.Met50Val) c.112+36A>G (n.112+36A>G) | gnomAD v4 |
| 19 | g.1401329T>G | CA254380 | GAMT | c.148A>C (p.Met50Leu) c.112+36A>C (n.112+36A>C) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401329T= | CA2317700396 | GAMT | c.148A= (p.Met50=) c.112+36A= (n.112+36A=) | |
| 19 | g.1401329_1401333del | CA2582641915 | GAMT | c.144_148del (p.Tyr49AlafsTer?) c.112+32_112+36del (n.112+32_112+36del) | gnomAD v4 |
| 19 | g.1401330A>C | CA402998065 | GAMT | c.147T>G (p.Tyr49Ter) c.112+35T>G (n.112+35T>G) | |
| 19 | g.1401330A>G | CA504731618 | GAMT | c.147T>C (p.Tyr49=) c.112+35T>C (n.112+35T>C) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401330A>T | CA402998066 | GAMT | c.147T>A (p.Tyr49Ter) c.112+35T>A (n.112+35T>A) | |
| 19 | g.1401331T>A | CA402998067 | GAMT | c.146A>T (p.Tyr49Phe) c.112+34A>T (n.112+34A>T) | gnomAD v4 |
| 19 | g.1401331T>C | CA402998068 | GAMT | c.146A>G (p.Tyr49Cys) c.112+34A>G (n.112+34A>G) | gnomAD v4 |
| 19 | g.1401331T>G | CA402998069 | GAMT | c.146A>C (p.Tyr49Ser) c.112+34A>C (n.112+34A>C) | |
| 19 | g.1401331_1401332delinsTA | CA2317700397 | GAMT | c.145_146delinsTA (p.Tyr49=) c.112+33_112+34delinsTA (n.112+33_112+34delinsTA) | |
| 19 | g.1401332del | CA631301060 | GAMT | c.145del (p.Tyr49IlefsTer?) c.112+33del (n.112+33del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401332A= | CA2317700398 | GAMT | c.145T= (p.Tyr49=) c.112+33T= (n.112+33T=) | |
| 19 | g.1401332A>C | CA402998072 | GAMT | c.145T>G (p.Tyr49Asp) c.112+33T>G (n.112+33T>G) | |
| 19 | g.1401332A>G | CA402998071 | GAMT | c.145T>C (p.Tyr49His) c.112+33T>C (n.112+33T>C) | gnomAD v4 |
| 19 | g.1401332A>T | CA402998070 | GAMT | c.145T>A (p.Tyr49Asn) c.112+33T>A (n.112+33T>A) | gnomAD v4 |
| 19 | g.1401333G>A | CA504731621 | GAMT | c.144C>T (p.Pro48=) c.112+32C>T (n.112+32C>T) | ClinVar gnomAD v4 |
| 19 | g.1401333G>C | CA504731619 | GAMT | c.144C>G (p.Pro48=) c.112+32C>G (n.112+32C>G) | |
| 19 | g.1401333G>T | CA504731620 | GAMT | c.144C>A (p.Pro48=) c.112+32C>A (n.112+32C>A) | gnomAD v4 |
| 19 | g.1401337dup | CA2317700399 | GAMT | c.144dup (p.Tyr49LeufsTer?) c.112+32dup (n.112+32dup) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401337del | CA2582641916 | GAMT | c.144del (p.Tyr49IlefsTer?) c.112+32del (n.112+32del) | ClinVar gnomAD v4 |
| 19 | g.1401334G>A | CA402998074 | GAMT | c.143C>T (p.Pro48Leu) c.112+31C>T (n.112+31C>T) | gnomAD v4 |
| 19 | g.1401334G>C | CA402998073 | GAMT | c.143C>G (p.Pro48Arg) c.112+31C>G (n.112+31C>G) | |
| 19 | g.1401334G>T | CA402998075 | GAMT | c.143C>A (p.Pro48His) c.112+31C>A (n.112+31C>A) | gnomAD v4 |
| 19 | g.1401335G>A | CA402998076 | GAMT | c.142C>T (p.Pro48Ser) c.112+30C>T (n.112+30C>T) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401335G>C | CA402998077 | GAMT | c.142C>G (p.Pro48Ala) c.112+30C>G (n.112+30C>G) | |
| 19 | g.1401335G>T | CA402998078 | GAMT | c.142C>A (p.Pro48Thr) c.112+30C>A (n.112+30C>A) | gnomAD v4 |
| 19 | g.1401336G>A | CA504731623 | GAMT | c.141C>T (p.Thr47=) c.112+29C>T (n.112+29C>T) | gnomAD v4 |
| 19 | g.1401336G>C | CA504731624 | GAMT | c.141C>G (p.Thr47=) c.112+29C>G (n.112+29C>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401336G= | CA2317700400 | GAMT | c.141C= (p.Thr47=) c.112+29C= (n.112+29C=) | |
| 19 | g.1401336G>T | CA504731622 | GAMT | c.141C>A (p.Thr47=) c.112+29C>A (n.112+29C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401337G>A | CA10651551 | GAMT | c.140C>T (p.Thr47Ile) c.112+28C>T (n.112+28C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401337G>C | CA402998079 | GAMT | c.140C>G (p.Thr47Ser) c.112+28C>G (n.112+28C>G) | |
| 19 | g.1401337G= | CA2317700401 | GAMT | c.140C= (p.Thr47=) c.112+28C= (n.112+28C=) | |
| 19 | g.1401337G>T | CA402998080 | GAMT | c.140C>A (p.Thr47Asn) c.112+28C>A (n.112+28C>A) | gnomAD v4 |
| 19 | g.1401338T>A | CA402998083 | GAMT | c.139A>T (p.Thr47Ser) c.112+27A>T (n.112+27A>T) | |
| 19 | g.1401338T>C | CA402998081 | GAMT | c.139A>G (p.Thr47Ala) c.112+27A>G (n.112+27A>G) | gnomAD v4 |
| 19 | g.1401338T>G | CA402998082 | GAMT | c.139A>C (p.Thr47Pro) c.112+27A>C (n.112+27A>C) | |
| 19 | g.1401339C>A | CA402998084 | GAMT | c.138G>T (p.Glu46Asp) c.112+26G>T (n.112+26G>T) | gnomAD v4 |
| 19 | g.1401339C= | CA2317700402 | GAMT | c.138G= (p.Glu46=) c.112+26G= (n.112+26G=) | |
| 19 | g.1401339C>G | CA402998085 | GAMT | c.138G>C (p.Glu46Asp) c.112+26G>C (n.112+26G>C) | |
| 19 | g.1401339C>T | CA504731625 | GAMT | c.138G>A (p.Glu46=) c.112+26G>A (n.112+26G>A) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401340T>A | CA402998086 | GAMT | c.137A>T (p.Glu46Val) c.112+25A>T (n.112+25A>T) | |
| 19 | g.1401340T>C | CA402998087 | GAMT | c.137A>G (p.Glu46Gly) c.112+25A>G (n.112+25A>G) | gnomAD v4 |
| 19 | g.1401340T>G | CA402998088 | GAMT | c.137A>C (p.Glu46Ala) c.112+25A>C (n.112+25A>C) | |
| 19 | g.1401341C>A | CA402998089 | GAMT | c.136G>T (p.Glu46Ter) c.112+24G>T (n.112+24G>T) | gnomAD v4 |
| 19 | g.1401341C>G | CA402998091 | GAMT | c.136G>C (p.Glu46Gln) c.112+24G>C (n.112+24G>C) | |
| 19 | g.1401341C>T | CA402998090 | GAMT | c.136G>A (p.Glu46Lys) c.112+24G>A (n.112+24G>A) | gnomAD v4 |
| 19 | g.1401342C>A | CA402998092 | GAMT | c.135G>T (p.Trp45Cys) c.112+23G>T (n.112+23G>T) | gnomAD v4 |
| 19 | g.1401342C>G | CA402998093 | GAMT | c.135G>C (p.Trp45Cys) c.112+23G>C (n.112+23G>C) | gnomAD v4 |
| 19 | g.1401342C>T | CA402998094 | GAMT | c.135G>A (p.Trp45Ter) c.112+23G>A (n.112+23G>A) | gnomAD v4 |
| 19 | g.1401345_1401352dup | CA2580096095 | GAMT | c.128_135dup (p.Glu46SerfsTer?) c.112+16_112+23dup (n.112+16_112+23dup) | ClinVar |
| 19 | g.1401343C>A | CA304067273 | GAMT | c.134G>T (p.Trp45Leu) c.112+22G>T (n.112+22G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401343C= | CA2317700403 | GAMT | c.134G= (p.Trp45=) c.112+22G= (n.112+22G=) | |
| 19 | g.1401343C>G | CA402998095 | GAMT | c.134G>C (p.Trp45Ser) c.112+22G>C (n.112+22G>C) | |
| 19 | g.1401343C>T | CA402998096 | GAMT | c.134G>A (p.Trp45Ter) c.112+22G>A (n.112+22G>A) | ClinVar gnomAD v4 |
| 19 | g.1401344A= | CA2317700404 | GAMT | c.133T= (p.Trp45=) c.112+21T= (n.112+21T=) | |
| 19 | g.1401344A>C | CA402998097 | GAMT | c.133T>G (p.Trp45Gly) c.112+21T>G (n.112+21T>G) | |
| 19 | g.1401344A>G | CA402998098 | GAMT | c.133T>C (p.Trp45Arg) c.112+21T>C (n.112+21T>C) | gnomAD v4 |
| 19 | g.1401344A>T | CA10651554 | GAMT | c.133T>A (p.Trp45Arg) c.112+21T>A (n.112+21T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401345G>A | CA9043798 | GAMT | c.132C>T (p.Arg44=) c.112+20C>T (n.112+20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401345G>C | CA504731626 | GAMT | c.132C>G (p.Arg44=) c.112+20C>G (n.112+20C>G) | gnomAD v4 |
| 19 | g.1401345G= | CA2317700405 | GAMT | c.132C= (p.Arg44=) c.112+20C= (n.112+20C=) | |
| 19 | g.1401345G>T | CA504731627 | GAMT | c.132C>A (p.Arg44=) c.112+20C>A (n.112+20C>A) | gnomAD v4 |
| 19 | g.1401346C>A | CA9043799 | GAMT | c.131G>T (p.Arg44Leu) c.112+19G>T (n.112+19G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1401346C= | CA2317700406 | GAMT | c.131G= (p.Arg44=) c.112+19G= (n.112+19G=) | |
| 19 | g.1401346C>G | CA402998099 | GAMT | c.131G>C (p.Arg44Pro) c.112+19G>C (n.112+19G>C) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401346C>T | CA9043800 | GAMT | c.131G>A (p.Arg44His) c.112+19G>A (n.112+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401347G>A | CA402998100 | GAMT | c.130C>T (p.Arg44Cys) c.112+18C>T (n.112+18C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401347G>C | CA402998101 | GAMT | c.130C>G (p.Arg44Gly) c.112+18C>G (n.112+18C>G) | ClinVar |
| 19 | g.1401347G= | CA2317700407 | GAMT | c.130C= (p.Arg44=) c.112+18C= (n.112+18C=) | |
| 19 | g.1401347G>T | CA402998102 | GAMT | c.130C>A (p.Arg44Ser) c.112+18C>A (n.112+18C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401348C>A | CA402998103 | GAMT | c.129G>T (p.Glu43Asp) c.112+17G>T (n.112+17G>T) | gnomAD v4 |
| 19 | g.1401348C>G | CA402998104 | GAMT | c.129G>C (p.Glu43Asp) c.112+17G>C (n.112+17G>C) | |
| 19 | g.1401348C>T | CA504731628 | GAMT | c.129G>A (p.Glu43=) c.112+17G>A (n.112+17G>A) | gnomAD v4 |
| 19 | g.1401349T>A | CA402998106 | GAMT | c.128A>T (p.Glu43Val) c.112+16A>T (n.112+16A>T) | gnomAD v4 |
| 19 | g.1401349T>C | CA314848 | GAMT | c.128A>G (p.Glu43Gly) c.112+16A>G (n.112+16A>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401349T>G | CA402998105 | GAMT | c.128A>C (p.Glu43Ala) c.112+16A>C (n.112+16A>C) | gnomAD v4 |
| 19 | g.1401349T= | CA2317700408 | GAMT | c.128A= (p.Glu43=) c.112+16A= (n.112+16A=) | |
| 19 | g.1401350C>A | CA402998107 | GAMT | c.127G>T (p.Glu43Ter) c.112+15G>T (n.112+15G>T) | gnomAD v4 |
| 19 | g.1401350C= | CA2317700409 | GAMT | c.127G= (p.Glu43=) c.112+15G= (n.112+15G=) | |
| 19 | g.1401350C>G | CA9043801 | GAMT | c.127G>C (p.Glu43Gln) c.112+15G>C (n.112+15G>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.1401350C>T | CA402998108 | GAMT | c.127G>A (p.Glu43Lys) c.112+15G>A (n.112+15G>A) | gnomAD v4 |
| 19 | g.1401351C>A | CA402998109 | GAMT | c.126G>T (p.Met42Ile) c.112+14G>T (n.112+14G>T) | gnomAD v4 |
| 19 | g.1401351C>G | CA402998110 | GAMT | c.126G>C (p.Met42Ile) c.112+14G>C (n.112+14G>C) | |
| 19 | g.1401351C>T | CA402998111 | GAMT | c.126G>A (p.Met42Ile) c.112+14G>A (n.112+14G>A) | gnomAD v4 |
| 19 | g.1401352A= | CA2317700410 | GAMT | c.125T= (p.Met42=) c.112+13T= (n.112+13T=) | |
| 19 | g.1401352A>C | CA402998112 | GAMT | c.125T>G (p.Met42Arg) c.112+13T>G (n.112+13T>G) | |
| 19 | g.1401352A>G | CA402998114 | GAMT | c.125T>C (p.Met42Thr) c.112+13T>C (n.112+13T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401352A>T | CA402998113 | GAMT | c.125T>A (p.Met42Lys) c.112+13T>A (n.112+13T>A) | gnomAD v4 |
| 19 | g.1401353T>A | CA402998115 | GAMT | c.124A>T (p.Met42Leu) c.112+12A>T (n.112+12A>T) | |
| 19 | g.1401353T>C | CA314846 | GAMT | c.124A>G (p.Met42Val) c.112+12A>G (n.112+12A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401353T>G | CA402998116 | GAMT | c.124A>C (p.Met42Leu) c.112+12A>C (n.112+12A>C) | dbSNP |
| 19 | g.1401353T= | CA2317700411 | GAMT | c.124A= (p.Met42=) c.112+12A= (n.112+12A=) | |
| 19 | g.1401354C>A | CA504731629 | GAMT | c.123G>T (p.Val41=) c.112+11G>T (n.112+11G>T) | gnomAD v4 |
| 19 | g.1401354C>G | CA504731630 | GAMT | c.123G>C (p.Val41=) c.112+11G>C (n.112+11G>C) | |
| 19 | g.1401354C>T | CA504731631 | GAMT | c.123G>A (p.Val41=) c.112+11G>A (n.112+11G>A) | gnomAD v4 |
| 19 | g.1401355A= | CA2317700412 | GAMT | c.122T= (p.Val41=) c.112+10T= (n.112+10T=) | |
| 19 | g.1401355A>C | CA402998117 | GAMT | c.122T>G (p.Val41Gly) c.112+10T>G (n.112+10T>G) | |
| 19 | g.1401355A>G | CA402998118 | GAMT | c.122T>C (p.Val41Ala) c.112+10T>C (n.112+10T>C) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401355A>T | CA402998119 | GAMT | c.122T>A (p.Val41Glu) c.112+10T>A (n.112+10T>A) | gnomAD v4 |
| 19 | g.1401356C>A | CA402998120 | GAMT | c.121G>T (p.Val41Leu) c.112+9G>T (n.112+9G>T) | gnomAD v4 |
| 19 | g.1401356C>G | CA402998121 | GAMT | c.121G>C (p.Val41Leu) c.112+9G>C (n.112+9G>C) | gnomAD v4 |
| 19 | g.1401356C>T | CA402998122 | GAMT | c.121G>A (p.Val41Met) c.112+9G>A (n.112+9G>A) | gnomAD v4 |
| 19 | g.1401357C>A | CA504731633 | GAMT | c.120G>T (p.Pro40=) c.112+8G>T (n.112+8G>T) | gnomAD v4 |
| 19 | g.1401357C>G | CA504731634 | GAMT | c.120G>C (p.Pro40=) c.112+8G>C (n.112+8G>C) | |
| 19 | g.1401357C>T | CA504731632 | GAMT | c.120G>A (p.Pro40=) c.112+8G>A (n.112+8G>A) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401358G>A | CA402998123 | GAMT | c.119C>T (p.Pro40Leu) c.112+7C>T (n.112+7C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401358G>C | CA402998124 | GAMT | c.119C>G (p.Pro40Arg) c.112+7C>G (n.112+7C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401358G= | CA2317700413 | GAMT | c.119C= (p.Pro40=) c.112+7C= (n.112+7C=) | |
| 19 | g.1401358G>T | CA402998125 | GAMT | c.119C>A (p.Pro40Gln) c.112+7C>A (n.112+7C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401359G>A | CA304067305 | GAMT | c.118C>T (p.Pro40Ser) c.112+6C>T (n.112+6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401359G>C | CA402998127 | GAMT | c.118C>G (p.Pro40Ala) c.112+6C>G (n.112+6C>G) | gnomAD v4 |
| 19 | g.1401359G= | CA2317700414 | GAMT | c.118C= (p.Pro40=) c.112+6C= (n.112+6C=) | |
| 19 | g.1401359G>T | CA402998126 | GAMT | c.118C>A (p.Pro40Thr) c.112+6C>A (n.112+6C>A) | gnomAD v4 |
| 19 | g.1401360C>A | CA402998128 | GAMT | c.117G>T (p.Lys39Asn) c.112+5G>T (n.112+5G>T) | gnomAD v4 |
| 19 | g.1401360C>G | CA402998129 | GAMT | c.117G>C (p.Lys39Asn) c.112+5G>C (n.112+5G>C) | |
| 19 | g.1401360C>T | CA504731635 | GAMT | c.117G>A (p.Lys39=) c.112+5G>A (n.112+5G>A) | |
| 19 | g.1401361T>A | CA402998130 | GAMT | c.116A>T (p.Lys39Met) c.112+4A>T (n.112+4A>T) | |
| 19 | g.1401361T>C | CA402998132 | GAMT | c.116A>G (p.Lys39Arg) c.112+4A>G (n.112+4A>G) | |
| 19 | g.1401361T>G | CA402998131 | GAMT | c.116A>C (p.Lys39Thr) c.112+4A>C (n.112+4A>C) | |
| 19 | g.1401362T>A | CA402998133 | GAMT | c.115A>T (p.Lys39Ter) c.112+3A>T (n.112+3A>T) | |
| 19 | g.1401362T>C | CA402998134 | GAMT | c.115A>G (p.Lys39Glu) c.112+3A>G (n.112+3A>G) | ClinVar gnomAD v4 |
| 19 | g.1401362T>G | CA402998135 | GAMT | c.115A>C (p.Lys39Gln) c.112+3A>C (n.112+3A>C) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401365_1401373del | CA2582641917 | GAMT | c.107_115del (p.Ile36_Gly38del) c.107_112+3del | gnomAD v4 |
| 19 | g.1401363G>A | CA504731636 | GAMT | c.114C>T (p.Gly38=) c.112+2C>T (n.112+2C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401363G>C | CA504731638 | GAMT | c.114C>G (p.Gly38=) c.112+2C>G (n.112+2C>G) | |
| 19 | g.1401363G= | CA2317700415 | GAMT | c.114C= (p.Gly38=) c.112+2C= (n.112+2C=) | |
| 19 | g.1401363G>T | CA504731637 | GAMT | c.114C>A (p.Gly38=) c.112+2C>A (n.112+2C>A) | gnomAD v4 |
| 19 | g.1401364C>A | CA402998136 | GAMT | c.113G>T (p.Gly38Val) c.112+1G>T (n.112+1G>T) | gnomAD v4 |
| 19 | g.1401364C>G | CA402998137 | GAMT | c.113G>C (p.Gly38Ala) c.112+1G>C (n.112+1G>C) | gnomAD v4 |
| 19 | g.1401364C>T | CA402998139 | GAMT | c.113G>A (p.Gly38Asp) c.112+1G>A (n.112+1G>A) | gnomAD v4 |
| 19 | g.1401366dup | CA2695198106 | GAMT | c.113dup (p.Lys39GlnfsTer?) c.112+1dup | ClinVar |
| 19 | g.1401366del | CA2582641918 | GAMT | c.113del (p.Gly38AlafsTer4) c.112+1del | gnomAD v4 |
| 19 | g.1401365C>A | CA402998140 | GAMT | c.112G>T (p.Gly38Cys) c.112G>T (p.Gly38Trp) | gnomAD v4 |
| 19 | g.1401365C= | CA2317700416 | GAMT | c.112G= (p.Gly38=) | |
| 19 | g.1401365C>G | CA402998141 | GAMT | c.112G>C (p.Gly38Arg) | dbSNP |
| 19 | g.1401365C>T | CA304067308 | GAMT | c.112G>A (p.Gly38Ser) c.112G>A (p.Gly38Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401366C>A | CA504731639 | GAMT | c.111G>T (p.Leu37=) | gnomAD v4 |
| 19 | g.1401366C>G | CA504731640 | GAMT | c.111G>C (p.Leu37=) | |
| 19 | g.1401366C>T | CA504731641 | GAMT | c.111G>A (p.Leu37=) | gnomAD v4 |
| 19 | g.1401367A>C | CA402998142 | GAMT | c.110T>G (p.Leu37Arg) | gnomAD v4 |
| 19 | g.1401367A>G | CA402998143 | GAMT | c.110T>C (p.Leu37Pro) | gnomAD v4 |
| 19 | g.1401367A>T | CA402998144 | GAMT | c.110T>A (p.Leu37Gln) | gnomAD v4 |
| 19 | g.1401368G>A | CA504731642 | GAMT | c.109C>T (p.Leu37=) | gnomAD v4 |
| 19 | g.1401368G>C | CA402998146 | GAMT | c.109C>G (p.Leu37Val) | gnomAD v4 |
| 19 | g.1401368G= | CA2317700417 | GAMT | c.109C= (p.Leu37=) | |
| 19 | g.1401368G>T | CA402998145 | GAMT | c.109C>A (p.Leu37Met) | dbSNP gnomAD v4 |
| 19 | g.1401369G>A | CA504731643 | GAMT | c.108C>T (p.Ile36=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401369G>C | CA402998147 | GAMT | c.108C>G (p.Ile36Met) | gnomAD v4 |
| 19 | g.1401369G>T | CA504731644 | GAMT | c.108C>A (p.Ile36=) | gnomAD v4 |
| 19 | g.1401370A>C | CA402998148 | GAMT | c.107T>G (p.Ile36Ser) | |
| 19 | g.1401370A>G | CA402998149 | GAMT | c.107T>C (p.Ile36Thr) | gnomAD v4 |
| 19 | g.1401370A>T | CA402998150 | GAMT | c.107T>A (p.Ile36Asn) | gnomAD v4 |
| 19 | g.1401371T>A | CA402998152 | GAMT | c.106A>T (p.Ile36Phe) | |
| 19 | g.1401371T>C | CA402998154 | GAMT | c.106A>G (p.Ile36Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401371T>G | CA402998156 | GAMT | c.106A>C (p.Ile36Leu) | |
| 19 | g.1401371T= | CA2317700418 | GAMT | c.106A= (p.Ile36=) | |
| 19 | g.1401372G>A | CA9043802 | GAMT | c.105C>T (p.Arg35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401372G>C | CA504731645 | GAMT | c.105C>G (p.Arg35=) | gnomAD v4 |
| 19 | g.1401372G= | CA2317700419 | GAMT | c.105C= (p.Arg35=) | |
| 19 | g.1401372G>T | CA504731646 | GAMT | c.105C>A (p.Arg35=) | gnomAD v4 |
| 19 | g.1401373C>A | CA402998160 | GAMT | c.104G>T (p.Arg35Leu) | gnomAD v4 |
| 19 | g.1401373C>G | CA402998161 | GAMT | c.104G>C (p.Arg35Pro) | |
| 19 | g.1401373C>T | CA402998163 | GAMT | c.104G>A (p.Arg35His) | gnomAD v4 |
| 19 | g.1401374G>A | CA402998168 | GAMT | c.103C>T (p.Arg35Cys) | gnomAD v4 |
| 19 | g.1401374G>C | CA402998167 | GAMT | c.103C>G (p.Arg35Gly) | |
| 19 | g.1401374G>T | CA402998165 | GAMT | c.103C>A (p.Arg35Ser) | gnomAD v4 |
| 19 | g.1401375C>A | CA9043803 | GAMT | c.102G>T (p.Leu34=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401375C= | CA2317700420 | GAMT | c.102G= (p.Leu34=) | |
| 19 | g.1401375C>G | CA504731647 | GAMT | c.102G>C (p.Leu34=) | |
| 19 | g.1401375C>T | CA504731648 | GAMT | c.102G>A (p.Leu34=) | gnomAD v4 |
| 19 | g.1401376A= | CA2317700421 | GAMT | c.101T= (p.Leu34=) | |
| 19 | g.1401376A>C | CA402998169 | GAMT | c.101T>G (p.Leu34Arg) | |
| 19 | g.1401376A>G | CA402998170 | GAMT | c.101T>C (p.Leu34Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401376A>T | CA402998172 | GAMT | c.101T>A (p.Leu34Gln) | gnomAD v4 |
| 19 | g.1401377G>A | CA504731649 | GAMT | c.100C>T (p.Leu34=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401377G>C | CA402998174 | GAMT | c.100C>G (p.Leu34Val) | gnomAD v4 |
| 19 | g.1401377G>T | CA402998176 | GAMT | c.100C>A (p.Leu34Met) | gnomAD v4 |
| 19 | g.1401378G>A | CA504731650 | GAMT | c.99C>T (p.His33=) | gnomAD v4 |
| 19 | g.1401378G>C | CA402998178 | GAMT | c.99C>G (p.His33Gln) | |
| 19 | g.1401378G>T | CA402998177 | GAMT | c.99C>A (p.His33Gln) | gnomAD v4 |
| 19 | g.1401379T>A | CA402998181 | GAMT | c.98A>T (p.His33Leu) | |
| 19 | g.1401379T>C | CA402998182 | GAMT | c.98A>G (p.His33Arg) | gnomAD v4 |
| 19 | g.1401379T>G | CA402998183 | GAMT | c.98A>C (p.His33Pro) | gnomAD v4 |
| 19 | g.1401380G>A | CA402998185 | GAMT | c.97C>T (p.His33Tyr) | dbSNP gnomAD v4 |
| 19 | g.1401380G>C | CA402998187 | GAMT | c.97C>G (p.His33Asp) | |
| 19 | g.1401380G= | CA2317700422 | GAMT | c.97C= (p.His33=) | |
| 19 | g.1401380G>T | CA402998188 | GAMT | c.97C>A (p.His33Asn) | gnomAD v4 |
| 19 | g.1401381C>A | CA504731651 | GAMT | c.96G>T (p.Thr32=) | gnomAD v4 |
| 19 | g.1401381C= | CA2317700423 | GAMT | c.96G= (p.Thr32=) | |
| 19 | g.1401381C>G | CA504731653 | GAMT | c.96G>C (p.Thr32=) | |
| 19 | g.1401381C>T | CA504731652 | GAMT | c.96G>A (p.Thr32=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401382G>A | CA402998190 | GAMT | c.95C>T (p.Thr32Met) | gnomAD v4 |
| 19 | g.1401382G>C | CA402998192 | GAMT | c.95C>G (p.Thr32Arg) | gnomAD v4 |
| 19 | g.1401382G>T | CA402998191 | GAMT | c.95C>A (p.Thr32Lys) | gnomAD v4 |
| 19 | g.1401384_1401385del | CA2582641919 | GAMT | c.94_95del (p.Thr32AlafsTer?) c.94_95del (p.Thr32AlafsTer29) | gnomAD v4 |
| 19 | g.1401383T>A | CA402998193 | GAMT | c.94A>T (p.Thr32Ser) | gnomAD v4 |
| 19 | g.1401383T>C | CA402998195 | GAMT | c.94A>G (p.Thr32Ala) | gnomAD v4 |
| 19 | g.1401383T>G | CA402998196 | GAMT | c.94A>C (p.Thr32Pro) | |
| 19 | g.1401384G>A | CA504731654 | GAMT | c.93C>T (p.Asp31=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401384G>C | CA402998198 | GAMT | c.93C>G (p.Asp31Glu) | |
| 19 | g.1401384G= | CA2317700424 | GAMT | c.93C= (p.Asp31=) | |
| 19 | g.1401384G>T | CA402998200 | GAMT | c.93C>A (p.Asp31Glu) | gnomAD v4 |
| 19 | g.1401385T>A | CA314844 | GAMT | c.92A>T (p.Asp31Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401385T>C | CA402998201 | GAMT | c.92A>G (p.Asp31Gly) | gnomAD v4 |
| 19 | g.1401385T>G | CA402998202 | GAMT | c.92A>C (p.Asp31Ala) | |
| 19 | g.1401385T= | CA2317700425 | GAMT | c.92A= (p.Asp31=) | |
| 19 | g.1401386C>A | CA402998204 | GAMT | c.91G>T (p.Asp31Tyr) | gnomAD v4 |
| 19 | g.1401386C>G | CA402998206 | GAMT | c.91G>C (p.Asp31His) | |
| 19 | g.1401386C>T | CA402998210 | GAMT | c.91G>A (p.Asp31Asn) | gnomAD v4 |
| 19 | g.1401388_1401389insTGCCG | CA631301069 | GAMT | c.91_92insCACGG (p.Asp31AlafsTer13) c.91_92insCACGG (p.Asp31AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401387C>A | CA504731655 | GAMT | c.90G>T (p.Ala30=) | gnomAD v4 |
| 19 | g.1401387C>G | CA504731656 | GAMT | c.90G>C (p.Ala30=) | gnomAD v4 |
| 19 | g.1401387C>T | CA504731657 | GAMT | c.90G>A (p.Ala30=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401388_1401389del | CA2582641920 | GAMT | c.89_90del (p.Ala30GlyfsTer?) | gnomAD v4 |
| 19 | g.1401388G>A | CA402998216 | GAMT | c.89C>T (p.Ala30Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401388G>C | CA402998215 | GAMT | c.89C>G (p.Ala30Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401388G= | CA2317700426 | GAMT | c.89C= (p.Ala30=) | |
| 19 | g.1401388G>T | CA402998213 | GAMT | c.89C>A (p.Ala30Glu) | gnomAD v4 |
| 19 | g.1401389C>A | CA402998220 | GAMT | c.88G>T (p.Ala30Ser) | gnomAD v4 |
| 19 | g.1401389C= | CA2317700427 | GAMT | c.88G= (p.Ala30=) | |
| 19 | g.1401389C>G | CA402998218 | GAMT | c.88G>C (p.Ala30Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401389C>T | CA402998221 | GAMT | c.88G>A (p.Ala30Thr) | gnomAD v4 |
| 19 | g.1401390T>A | CA504731660 | GAMT | c.87A>T (p.Ala29=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401390T>C | CA504731661 | GAMT | c.87A>G (p.Ala29=) | gnomAD v4 |
| 19 | g.1401390T>G | CA504731659 | GAMT | c.87A>C (p.Ala29=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401390T= | CA2317700428 | GAMT | c.87A= (p.Ala29=) | |
| 19 | g.1401391G>A | CA402998223 | GAMT | c.86C>T (p.Ala29Val) | gnomAD v4 |
| 19 | g.1401391G>C | CA402998224 | GAMT | c.86C>G (p.Ala29Gly) | |
| 19 | g.1401391G>T | CA402998226 | GAMT | c.86C>A (p.Ala29Glu) | gnomAD v4 |
| 19 | g.1401392C>A | CA402998228 | GAMT | c.85G>T (p.Ala29Ser) | gnomAD v4 |
| 19 | g.1401392C= | CA2317700429 | GAMT | c.85G= (p.Ala29=) | |
| 19 | g.1401392C>G | CA402998230 | GAMT | c.85G>C (p.Ala29Pro) | |
| 19 | g.1401392C>T | CA402998231 | GAMT | c.85G>A (p.Ala29Thr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401393G>A | CA9043804 | GAMT | c.84C>T (p.Asp28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1401393G>C | CA402998234 | GAMT | c.84C>G (p.Asp28Glu) | |
| 19 | g.1401393G= | CA2317700430 | GAMT | c.84C= (p.Asp28=) | |
| 19 | g.1401393G>T | CA402998236 | GAMT | c.84C>A (p.Asp28Glu) | gnomAD v4 |
| 19 | g.1401394T>A | CA402998237 | GAMT | c.83A>T (p.Asp28Val) | |
| 19 | g.1401394T>C | CA402998239 | GAMT | c.83A>G (p.Asp28Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401394T>G | CA402998240 | GAMT | c.83A>C (p.Asp28Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401394T= | CA2317700431 | GAMT | c.83A= (p.Asp28=) | |
| 19 | g.1401395C>A | CA402998246 | GAMT | c.82G>T (p.Asp28Tyr) | gnomAD v4 |
| 19 | g.1401395C= | CA2317700432 | GAMT | c.82G= (p.Asp28=) | |
| 19 | g.1401395C>G | CA402998242 | GAMT | c.82G>C (p.Asp28His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401395C>T | CA402998244 | GAMT | c.82G>A (p.Asp28Asn) | gnomAD v4 |
| 19 | g.1401395dup | CA2580096099 | GAMT | c.82dup (p.Asp28GlyfsTer?) | ClinVar |
| 19 | g.1401396G>A | CA504731663 | GAMT | c.81C>T (p.Tyr27=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.1401396G>C | CA304067316 | GAMT | c.81C>G (p.Tyr27Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401396G= | CA2317700433 | GAMT | c.81C= (p.Tyr27=) | |
| 19 | g.1401396G>T | CA402998248 | GAMT | c.81C>A (p.Tyr27Ter) | gnomAD v4 |
| 19 | g.1401396dup | CA2582641921 | GAMT | c.81dup (p.Asp28ArgfsTer?) | gnomAD v4 |
| 19 | g.1401397T>A | CA9043805 | GAMT | c.80A>T (p.Tyr27Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1401397T>C | CA402998251 | GAMT | c.80A>G (p.Tyr27Cys) | gnomAD v4 |
| 19 | g.1401397T>G | CA402998253 | GAMT | c.80A>C (p.Tyr27Ser) | |
| 19 | g.1401397T= | CA2317700434 | GAMT | c.80A= (p.Tyr27=) | |
| 19 | g.1401398A= | CA2317700435 | GAMT | c.79T= (p.Tyr27=) | |
| 19 | g.1401398A>C | CA402998254 | GAMT | c.79T>G (p.Tyr27Asp) | |
| 19 | g.1401398A>G | CA295620 | GAMT | c.79T>C (p.Tyr27His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401398A>T | CA402998256 | GAMT | c.79T>A (p.Tyr27Asn) | |
| 19 | g.1401399G>A | CA504731665 | GAMT | c.78C>T (p.Ala26=) | gnomAD v4 |
| 19 | g.1401399G>C | CA504731666 | GAMT | c.78C>G (p.Ala26=) | |
| 19 | g.1401399G>T | CA504731667 | GAMT | c.78C>A (p.Ala26=) | gnomAD v4 |
| 19 | g.1401400G>A | CA402998258 | GAMT | c.77C>T (p.Ala26Val) | gnomAD v4 |
| 19 | g.1401400G>C | CA402998260 | GAMT | c.77C>G (p.Ala26Gly) | gnomAD v4 |
| 19 | g.1401400G>T | CA402998262 | GAMT | c.77C>A (p.Ala26Asp) | gnomAD v4 |
| 19 | g.1401401C>A | CA402998265 | GAMT | c.76G>T (p.Ala26Ser) | dbSNP gnomAD v4 |
| 19 | g.1401401C= | CA2317700436 | GAMT | c.76G= (p.Ala26=) | |
| 19 | g.1401401C>G | CA402998266 | GAMT | c.76G>C (p.Ala26Pro) | |
| 19 | g.1401401C>T | CA402998263 | GAMT | c.76G>A (p.Ala26Thr) | gnomAD v4 |
| 19 | g.1401402C>A | CA504731672 | GAMT | c.75G>T (p.Ala25=) | gnomAD v4 |
| 19 | g.1401402C= | CA2317700437 | GAMT | c.75G= (p.Ala25=) | |
| 19 | g.1401402C>G | CA504731673 | GAMT | c.75G>C (p.Ala25=) | |
| 19 | g.1401402C>T | CA9043806 | GAMT | c.75G>A (p.Ala25=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1401403G>A | CA402998268 | GAMT | c.74C>T (p.Ala25Val) | gnomAD v4 |
| 19 | g.1401403G>C | CA402998270 | GAMT | c.74C>G (p.Ala25Gly) | |
| 19 | g.1401403G= | CA2317700438 | GAMT | c.74C= (p.Ala25=) | |
| 19 | g.1401403G>T | CA402998271 | GAMT | c.74C>A (p.Ala25Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401404del | CA2582641922 | GAMT | c.73del (p.Ala25ArgfsTer17) c.73del (p.Ala25ArgfsTer?) | gnomAD v4 |
| 19 | g.1401404C>A | CA9043807 | GAMT | c.73G>T (p.Ala25Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1401404C= | CA2317700439 | GAMT | c.73G= (p.Ala25=) | |
| 19 | g.1401404C>G | CA402998274 | GAMT | c.73G>C (p.Ala25Pro) | |
| 19 | g.1401404C>T | CA402998276 | GAMT | c.73G>A (p.Ala25Thr) | gnomAD v4 |
| 19 | g.1401406_1401509del | CA2582641923 | GAMT | c.-31_73del | gnomAD v4 |
| 19 | g.1401405G>A | CA504731674 | GAMT | c.72C>T (p.Pro24=) | gnomAD v4 |
| 19 | g.1401405G>C | CA504731678 | GAMT | c.72C>G (p.Pro24=) | |
| 19 | g.1401405G>T | CA504731679 | GAMT | c.72C>A (p.Pro24=) | ClinVar gnomAD v4 |
| 19 | g.1401407dup | CA2813256122 | GAMT | c.72dup (p.Ala25ArgfsTer?) | |
| 19 | g.1401407del | CA2582641924 | GAMT | c.72del (p.Ala25ArgfsTer17) c.72del (p.Ala25ArgfsTer?) | gnomAD v4 |
| 19 | g.1401406G>A | CA402998278 | GAMT | c.71C>T (p.Pro24Leu) | gnomAD v4 |
| 19 | g.1401406G>C | CA402998280 | GAMT | c.71C>G (p.Pro24Arg) | gnomAD v4 |
| 19 | g.1401406G>T | CA402998282 | GAMT | c.71C>A (p.Pro24His) | gnomAD v4 |
| 19 | g.1401407G>A | CA402998284 | GAMT | c.70C>T (p.Pro24Ser) | gnomAD v4 |
| 19 | g.1401407G>C | CA402998285 | GAMT | c.70C>G (p.Pro24Ala) | |
| 19 | g.1401407G>T | CA402998287 | GAMT | c.70C>A (p.Pro24Thr) | gnomAD v4 |
| 19 | g.1401408C>A | CA504731680 | GAMT | c.69G>T (p.Ala23=) | gnomAD v4 |
| 19 | g.1401408C>G | CA504731681 | GAMT | c.69G>C (p.Ala23=) | ClinVar |
| 19 | g.1401408C>T | CA504731682 | GAMT | c.69G>A (p.Ala23=) | gnomAD v4 |
| 19 | g.1401409G>A | CA314842 | GAMT | c.68C>T (p.Ala23Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401409G>C | CA402998290 | GAMT | c.68C>G (p.Ala23Gly) | dbSNP gnomAD v4 |
| 19 | g.1401409G= | CA2317700440 | GAMT | c.68C= (p.Ala23=) | |
| 19 | g.1401409G>T | CA402998289 | GAMT | c.68C>A (p.Ala23Glu) | gnomAD v4 |