| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 19 | g.1401410C>A | CA402998293 | GAMT | c.67G>T (p.Ala23Ser) | gnomAD v4 |
| 19 | g.1401410C= | CA2317700441 | GAMT | c.67G= (p.Ala23=) | |
| 19 | g.1401410C>G | CA402998295 | GAMT | c.67G>C (p.Ala23Pro) | |
| 19 | g.1401410C>T | CA9043808 | GAMT | c.67G>A (p.Ala23Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1401411C>A | CA504731684 | GAMT | c.66G>T (p.Ala22=) | ClinVar gnomAD v4 |
| 19 | g.1401411C= | CA2317700442 | GAMT | c.66G= (p.Ala22=) | |
| 19 | g.1401411C>G | CA504731685 | GAMT | c.66G>C (p.Ala22=) | |
| 19 | g.1401411C>T | CA9043809 | GAMT | c.66G>A (p.Ala22=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401412_1401413del | CA2582641925 | GAMT | c.65_66del (p.Ala22GlyfsTer?) | gnomAD v4 |
| 19 | g.1401412del | CA2580096101 | GAMT | c.65del (p.Ala22GlyfsTer20) c.65del (p.Ala22GlyfsTer?) | ClinVar gnomAD v4 |
| 19 | g.1401412G>A | CA402998296 | GAMT | c.65C>T (p.Ala22Val) | gnomAD v4 |
| 19 | g.1401412G>C | CA402998298 | GAMT | c.65C>G (p.Ala22Gly) | gnomAD v4 |
| 19 | g.1401412G>T | CA402998300 | GAMT | c.65C>A (p.Ala22Glu) | gnomAD v4 |
| 19 | g.1401412_1401413delinsGC | CA2317700443 | GAMT | c.64_65delinsGC (p.Ala22=) | |
| 19 | g.1401413C>A | CA402998301 | GAMT | c.64G>T (p.Ala22Ser) | gnomAD v4 |
| 19 | g.1401413C= | CA2317700444 | GAMT | c.64G= (p.Ala22=) | |
| 19 | g.1401413C>G | CA402998303 | GAMT | c.64G>C (p.Ala22Pro) | |
| 19 | g.1401413C>T | CA10651555 | GAMT | c.64G>A (p.Ala22Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401418dup | CA631301051 | GAMT | c.64dup (p.Ala22GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.1401417_1401418dup | CA2582641926 | GAMT | c.63_64dup (p.Ala22GlyfsTer21) c.63_64dup (p.Ala22GlyfsTer?) | gnomAD v4 |
| 19 | g.1401418del | CA631301050 | GAMT | c.64del (p.Ala22ArgfsTer20) c.64del (p.Ala22ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.1401414C>A | CA504731691 | GAMT | c.63G>T (p.Gly21=) | gnomAD v4 |
| 19 | g.1401414C>G | CA504731692 | GAMT | c.63G>C (p.Gly21=) | gnomAD v4 |
| 19 | g.1401414C>T | CA504731693 | GAMT | c.63G>A (p.Gly21=) | gnomAD v4 |
| 19 | g.1401415C>A | CA402998306 | GAMT | c.62G>T (p.Gly21Val) | gnomAD v4 |
| 19 | g.1401415C>G | CA402998308 | GAMT | c.62G>C (p.Gly21Ala) | |
| 19 | g.1401415C>T | CA402998310 | GAMT | c.62G>A (p.Gly21Glu) | ClinVar gnomAD v4 |
| 19 | g.1401416C>A | CA402998314 | GAMT | c.61G>T (p.Gly21Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401416C= | CA2317700445 | GAMT | c.61G= (p.Gly21=) | |
| 19 | g.1401416C>G | CA402998316 | GAMT | c.61G>C (p.Gly21Arg) | gnomAD v4 |
| 19 | g.1401416C>T | CA402998313 | GAMT | c.61G>A (p.Gly21Arg) | gnomAD v4 |
| 19 | g.1401417C>A | CA402998320 | GAMT | c.60G>T (p.Trp20Cys) | gnomAD v4 |
| 19 | g.1401417C= | CA2317700446 | GAMT | c.60G= (p.Trp20=) | |
| 19 | g.1401417C>G | CA402998323 | GAMT | c.60G>C (p.Trp20Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401417C>T | CA402998322 | GAMT | c.60G>A (p.Trp20Ter) | ClinVar gnomAD v4 |
| 19 | g.1401418C>A | CA402998326 | GAMT | c.59G>T (p.Trp20Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401418C= | CA2317700447 | GAMT | c.59G= (p.Trp20=) | |
| 19 | g.1401418C>G | CA340769 | GAMT | c.59G>C (p.Trp20Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401418C>T | CA402998328 | GAMT | c.59G>A (p.Trp20Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401419A>C | CA402998332 | GAMT | c.58T>G (p.Trp20Gly) | |
| 19 | g.1401419A>G | CA402998334 | GAMT | c.58T>C (p.Trp20Arg) | gnomAD v4 |
| 19 | g.1401419A>T | CA402998333 | GAMT | c.58T>A (p.Trp20Arg) | |
| 19 | g.1401419dup | CA504731701 | GAMT | c.58dup (p.Trp20LeufsTer?) | ClinVar gnomAD v4 |
| 19 | g.1401420C>A | CA504731707 | GAMT | c.57G>T (p.Ala19=) | gnomAD v4 |
| 19 | g.1401420C= | CA2317700448 | GAMT | c.57G= (p.Ala19=) | |
| 19 | g.1401420C>G | CA504731706 | GAMT | c.57G>C (p.Ala19=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401420C>T | CA504731704 | GAMT | c.57G>A (p.Ala19=) | gnomAD v4 |
| 19 | g.1401421G>A | CA402998335 | GAMT | c.56C>T (p.Ala19Val) | gnomAD v4 |
| 19 | g.1401421G>C | CA402998336 | GAMT | c.56C>G (p.Ala19Gly) | |
| 19 | g.1401421G>T | CA402998337 | GAMT | c.56C>A (p.Ala19Glu) | gnomAD v4 |
| 19 | g.1401422C>A | CA402998341 | GAMT | c.55G>T (p.Ala19Ser) | gnomAD v4 |
| 19 | g.1401422C= | CA2317700449 | GAMT | c.55G= (p.Ala19=) | |
| 19 | g.1401422C>G | CA402998343 | GAMT | c.55G>C (p.Ala19Pro) | dbSNP gnomAD v4 |
| 19 | g.1401422C>T | CA402998344 | GAMT | c.55G>A (p.Ala19Thr) | gnomAD v4 |
| 19 | g.1401422_1401423insA | CA2813256133 | GAMT | c.54_55insT (p.Ala19CysfsTer?) | |
| 19 | g.1401423G>A | CA304067345 | GAMT | c.54C>T (p.Pro18=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401423G>C | CA504731709 | GAMT | c.54C>G (p.Pro18=) | ClinVar gnomAD v4 |
| 19 | g.1401423G= | CA2317700450 | GAMT | c.54C= (p.Pro18=) | |
| 19 | g.1401423G>T | CA504731711 | GAMT | c.54C>A (p.Pro18=) | gnomAD v4 |
| 19 | g.1401426dup | CA2813256134 | GAMT | c.54dup (p.Ala19ArgfsTer?) | |
| 19 | g.1401426del | CA2582641927 | GAMT | c.54del (p.Ala19ArgfsTer23) c.54del (p.Ala19ArgfsTer?) | gnomAD v4 |
| 19 | g.1401424G>A | CA402998345 | GAMT | c.53C>T (p.Pro18Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401424G>C | CA402998347 | GAMT | c.53C>G (p.Pro18Arg) | |
| 19 | g.1401424G>T | CA402998348 | GAMT | c.53C>A (p.Pro18His) | gnomAD v4 |
| 19 | g.1401425G>A | CA402998350 | GAMT | c.52C>T (p.Pro18Ser) | gnomAD v4 |
| 19 | g.1401425G>C | CA402998351 | GAMT | c.52C>G (p.Pro18Ala) | |
| 19 | g.1401425G>T | CA402998352 | GAMT | c.52C>A (p.Pro18Thr) | gnomAD v4 |
| 19 | g.1401426G>A | CA504731717 | GAMT | c.51C>T (p.Ser17=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401426G>C | CA402998354 | GAMT | c.51C>G (p.Ser17Arg) | |
| 19 | g.1401426G= | CA2317700451 | GAMT | c.51C= (p.Ser17=) | |
| 19 | g.1401426G>T | CA402998353 | GAMT | c.51C>A (p.Ser17Arg) | dbSNP gnomAD v4 |
| 19 | g.1401427del | CA2695198107 | GAMT | c.50del (p.Ser17ThrfsTer25) c.50del (p.Ser17ThrfsTer?) | ClinVar |
| 19 | g.1401427C>A | CA402998357 | GAMT | c.50G>T (p.Ser17Ile) | gnomAD v4 |
| 19 | g.1401427C= | CA2317700452 | GAMT | c.50G= (p.Ser17=) | |
| 19 | g.1401427C>G | CA402998358 | GAMT | c.50G>C (p.Ser17Thr) | |
| 19 | g.1401427C>T | CA304067348 | GAMT | c.50G>A (p.Ser17Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401428T>A | CA402998359 | GAMT | c.49A>T (p.Ser17Cys) | |
| 19 | g.1401428T>C | CA402998360 | GAMT | c.49A>G (p.Ser17Gly) | gnomAD v4 |
| 19 | g.1401428T>G | CA402998361 | GAMT | c.49A>C (p.Ser17Arg) | gnomAD v4 |
| 19 | g.1401429G>A | CA504731722 | GAMT | c.48C>T (p.Cys16=) | gnomAD v4 |
| 19 | g.1401429G>C | CA402998363 | GAMT | c.48C>G (p.Cys16Trp) | gnomAD v4 |
| 19 | g.1401429G>T | CA402998364 | GAMT | c.48C>A (p.Cys16Ter) | ClinVar gnomAD v4 |
| 19 | g.1401430C>A | CA402998365 | GAMT | c.47G>T (p.Cys16Phe) | gnomAD v4 |
| 19 | g.1401430C= | CA2317700453 | GAMT | c.47G= (p.Cys16=) | |
| 19 | g.1401430C>G | CA402998366 | GAMT | c.47G>C (p.Cys16Ser) | gnomAD v4 |
| 19 | g.1401430C>T | CA402998367 | GAMT | c.47G>A (p.Cys16Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401431A= | CA2317700454 | GAMT | c.46T= (p.Cys16=) | |
| 19 | g.1401431A>C | CA402998372 | GAMT | c.46T>G (p.Cys16Gly) | ClinVar dbSNP |
| 19 | g.1401431A>G | CA402998370 | GAMT | c.46T>C (p.Cys16Arg) | gnomAD v4 |
| 19 | g.1401431A>T | CA402998369 | GAMT | c.46T>A (p.Cys16Ser) | gnomAD v4 |
| 19 | g.1401432G>A | CA504731727 | GAMT | c.45C>T (p.Asn15=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401432G>C | CA402998373 | GAMT | c.45C>G (p.Asn15Lys) | |
| 19 | g.1401432G= | CA2317700455 | GAMT | c.45C= (p.Asn15=) | |
| 19 | g.1401432G>T | CA402998375 | GAMT | c.45C>A (p.Asn15Lys) | gnomAD v4 |
| 19 | g.1401433T>A | CA402998377 | GAMT | c.44A>T (p.Asn15Ile) | |
| 19 | g.1401433T>C | CA402998378 | GAMT | c.44A>G (p.Asn15Ser) | gnomAD v4 |
| 19 | g.1401433T>G | CA402998379 | GAMT | c.44A>C (p.Asn15Thr) | |
| 19 | g.1401434T>A | CA402998380 | GAMT | c.43A>T (p.Asn15Tyr) | |
| 19 | g.1401434T>C | CA402998381 | GAMT | c.43A>G (p.Asn15Asp) | gnomAD v4 |
| 19 | g.1401434T>G | CA402998382 | GAMT | c.43A>C (p.Asn15His) | |
| 19 | g.1401435C>A | CA402998384 | GAMT | c.42G>T (p.Glu14Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401435C= | CA2317700456 | GAMT | c.42G= (p.Glu14=) | |
| 19 | g.1401435C>G | CA9043810 | GAMT | c.42G>C (p.Glu14Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401435C>T | CA504731732 | GAMT | c.42G>A (p.Glu14=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401436del | CA2576548785 | GAMT | c.41del (p.Glu14GlyfsTer28) c.41del (p.Glu14GlyfsTer?) | gnomAD v4 |
| 19 | g.1401436T>A | CA402998387 | GAMT | c.41A>T (p.Glu14Val) | |
| 19 | g.1401436T>C | CA402998388 | GAMT | c.41A>G (p.Glu14Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401436T>G | CA402998390 | GAMT | c.41A>C (p.Glu14Ala) | |
| 19 | g.1401436T= | CA2317700457 | GAMT | c.41A= (p.Glu14=) | |
| 19 | g.1401437C>A | CA402998391 | GAMT | c.40G>T (p.Glu14Ter) | gnomAD v4 |
| 19 | g.1401437C= | CA2317700458 | GAMT | c.40G= (p.Glu14=) | |
| 19 | g.1401437C>G | CA402998393 | GAMT | c.40G>C (p.Glu14Gln) | gnomAD v4 |
| 19 | g.1401437C>T | CA304067351 | GAMT | c.40G>A (p.Glu14Lys) | dbSNP gnomAD v4 |
| 19 | g.1401438G>A | CA504731733 | GAMT | c.39C>T (p.Gly13=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401438G>C | CA504731734 | GAMT | c.39C>G (p.Gly13=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401438G= | CA2317700459 | GAMT | c.39C= (p.Gly13=) | |
| 19 | g.1401438G>T | CA504731736 | GAMT | c.39C>A (p.Gly13=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401439C>A | CA402998396 | GAMT | c.38G>T (p.Gly13Val) | gnomAD v4 |
| 19 | g.1401439C= | CA2317700460 | GAMT | c.38G= (p.Gly13=) | |
| 19 | g.1401439C>G | CA402998398 | GAMT | c.38G>C (p.Gly13Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401439C>T | CA402998399 | GAMT | c.38G>A (p.Gly13Asp) | gnomAD v4 |
| 19 | g.1401440C>A | CA402998401 | GAMT | c.37G>T (p.Gly13Cys) | ClinVar gnomAD v4 |
| 19 | g.1401440C= | CA2317700461 | GAMT | c.37G= (p.Gly13=) | |
| 19 | g.1401440C>G | CA402998402 | GAMT | c.37G>C (p.Gly13Arg) | dbSNP gnomAD v4 |
| 19 | g.1401440C>T | CA402998404 | GAMT | c.37G>A (p.Gly13Ser) | gnomAD v4 |
| 19 | g.1401441G>A | CA9043811 | GAMT | c.36C>T (p.Pro12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401441G>C | CA304067356 | GAMT | c.36C>G (p.Pro12=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401441G= | CA2317700462 | GAMT | c.36C= (p.Pro12=) | |
| 19 | g.1401441G>T | CA504731742 | GAMT | c.36C>A (p.Pro12=) | gnomAD v4 |
| 19 | g.1401443del | CA2582641928 | GAMT | c.36del (p.Gly13AlafsTer29) c.36del (p.Gly13AlafsTer?) | gnomAD v4 |
| 19 | g.1401447_1401472dup | CA631301057 | GAMT | c.11_36dup (p.Gly13ProfsTer38) c.11_36dup (p.Gly13ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401442G>A | CA402998405 | GAMT | c.35C>T (p.Pro12Leu) | gnomAD v4 |
| 19 | g.1401442G>C | CA402998406 | GAMT | c.35C>G (p.Pro12Arg) | |
| 19 | g.1401442G>T | CA402998408 | GAMT | c.35C>A (p.Pro12His) | gnomAD v4 |
| 19 | g.1401443G>A | CA402998412 | GAMT | c.34C>T (p.Pro12Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401443G>C | CA402998411 | GAMT | c.34C>G (p.Pro12Ala) | |
| 19 | g.1401443G= | CA2317700463 | GAMT | c.34C= (p.Pro12=) | |
| 19 | g.1401443G>T | CA402998409 | GAMT | c.34C>A (p.Pro12Thr) | gnomAD v4 |
| 19 | g.1401446_1401447del | CA2813256140 | GAMT | c.33_34del (p.Pro12ArgfsTer?) | |
| 19 | g.1401444C>A | CA9043812 | GAMT | c.33G>T (p.Ala11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401444C= | CA2317700464 | GAMT | c.33G= (p.Ala11=) | |
| 19 | g.1401444C>G | CA504731744 | GAMT | c.33G>C (p.Ala11=) | |
| 19 | g.1401444C>T | CA504731743 | GAMT | c.33G>A (p.Ala11=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401445G>A | CA402998418 | GAMT | c.32C>T (p.Ala11Val) | gnomAD v4 |
| 19 | g.1401445G>C | CA402998415 | GAMT | c.32C>G (p.Ala11Gly) | |
| 19 | g.1401445G>T | CA402998417 | GAMT | c.32C>A (p.Ala11Glu) | gnomAD v4 |
| 19 | g.1401446C>A | CA402998419 | GAMT | c.31G>T (p.Ala11Ser) | gnomAD v4 |
| 19 | g.1401446C= | CA2317700465 | GAMT | c.31G= (p.Ala11=) | |
| 19 | g.1401446C>G | CA402998420 | GAMT | c.31G>C (p.Ala11Pro) | |
| 19 | g.1401446C>T | CA402998421 | GAMT | c.31G>A (p.Ala11Thr) | dbSNP gnomAD v4 |
| 19 | g.1401447G>A | CA504731746 | GAMT | c.30C>T (p.Phe10=) | gnomAD v4 |
| 19 | g.1401447G>C | CA402998422 | GAMT | c.30C>G (p.Phe10Leu) | ClinVar dbSNP |
| 19 | g.1401447G>T | CA402998423 | GAMT | c.30C>A (p.Phe10Leu) | gnomAD v4 |
| 19 | g.1401448A>C | CA402998424 | GAMT | c.29T>G (p.Phe10Cys) | |
| 19 | g.1401448A>G | CA402998425 | GAMT | c.29T>C (p.Phe10Ser) | gnomAD v4 |
| 19 | g.1401448A>T | CA402998426 | GAMT | c.29T>A (p.Phe10Tyr) | |
| 19 | g.1401449del | CA2576548786 | GAMT | c.29del (p.Phe10SerfsTer?) | |
| 19 | g.1401449A>C | CA402998428 | GAMT | c.28T>G (p.Phe10Val) | |
| 19 | g.1401449A>G | CA402998430 | GAMT | c.28T>C (p.Phe10Leu) | gnomAD v4 |
| 19 | g.1401449A>T | CA402998432 | GAMT | c.28T>A (p.Phe10Ile) | gnomAD v4 |
| 19 | g.1401450G>A | CA504731748 | GAMT | c.27C>T (p.Ile9=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401450G>C | CA402998434 | GAMT | c.27C>G (p.Ile9Met) | |
| 19 | g.1401450G>T | CA504731749 | GAMT | c.27C>A (p.Ile9=) | gnomAD v4 |
| 19 | g.1401451A= | CA2317700466 | GAMT | c.26T= (p.Ile9=) | |
| 19 | g.1401451A>C | CA402998438 | GAMT | c.26T>G (p.Ile9Ser) | |
| 19 | g.1401451A>G | CA402998439 | GAMT | c.26T>C (p.Ile9Thr) | gnomAD v4 |
| 19 | g.1401451A>T | CA402998441 | GAMT | c.26T>A (p.Ile9Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401452T>A | CA402998444 | GAMT | c.25A>T (p.Ile9Phe) | |
| 19 | g.1401452T>C | CA402998450 | GAMT | c.25A>G (p.Ile9Val) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.1401452T>G | CA402998451 | GAMT | c.25A>C (p.Ile9Leu) | |
| 19 | g.1401452T= | CA2317700468 | GAMT | c.25A= (p.Ile9=) | |
| 19 | g.1401452_1401453delinsTG | CA2317700467 | GAMT | c.24_25delinsCA (p.Pro8=) | |
| 19 | g.1401453G>A | CA504731750 | GAMT | c.24C>T (p.Pro8=) | gnomAD v4 |
| 19 | g.1401453G>C | CA504731751 | GAMT | c.24C>G (p.Pro8=) | |
| 19 | g.1401453G>T | CA504731752 | GAMT | c.24C>A (p.Pro8=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401457dup | CA2813256144 | GAMT | c.24dup (p.Ile9HisfsTer?) | |
| 19 | g.1401456_1401457dup | CA2695223170 | GAMT | c.23_24dup (p.Ile9ProfsTer?) | |
| 19 | g.1401457del | CA304067361 | GAMT | c.24del (p.Ile9SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401454G>A | CA402998455 | GAMT | c.23C>T (p.Pro8Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401454G>C | CA402998456 | GAMT | c.23C>G (p.Pro8Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401454G= | CA2317700469 | GAMT | c.23C= (p.Pro8=) | |
| 19 | g.1401454G>T | CA402998460 | GAMT | c.23C>A (p.Pro8His) | gnomAD v4 |
| 19 | g.1401455G>A | CA402998463 | GAMT | c.22C>T (p.Pro8Ser) | gnomAD v4 |
| 19 | g.1401455G>C | CA402998469 | GAMT | c.22C>G (p.Pro8Ala) | |
| 19 | g.1401455G= | CA2317700470 | GAMT | c.22C= (p.Pro8=) | |
| 19 | g.1401455G>T | CA314840 | GAMT | c.22C>A (p.Pro8Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401456G>A | CA504731753 | GAMT | c.21C>T (p.Thr7=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401456G>C | CA504731754 | GAMT | c.21C>G (p.Thr7=) | |
| 19 | g.1401456G= | CA2317700471 | GAMT | c.21C= (p.Thr7=) | |
| 19 | g.1401456G>T | CA504731755 | GAMT | c.21C>A (p.Thr7=) | ClinVar gnomAD v4 |
| 19 | g.1401457G>A | CA402998475 | GAMT | c.20C>T (p.Thr7Ile) | gnomAD v4 |
| 19 | g.1401457G>C | CA402998477 | GAMT | c.20C>G (p.Thr7Ser) | |
| 19 | g.1401457G= | CA2317700472 | GAMT | c.20C= (p.Thr7=) | |
| 19 | g.1401457G>T | CA9043813 | GAMT | c.20C>A (p.Thr7Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401458T>A | CA402998481 | GAMT | c.19A>T (p.Thr7Ser) | |
| 19 | g.1401458T>C | CA402998484 | GAMT | c.19A>G (p.Thr7Ala) | gnomAD v4 |
| 19 | g.1401458T>G | CA402998487 | GAMT | c.19A>C (p.Thr7Pro) | gnomAD v3 gnomAD v4 |
| 19 | g.1401459C>A | CA504731756 | GAMT | c.18G>T (p.Ala6=) | gnomAD v4 |
| 19 | g.1401459C>G | CA504731757 | GAMT | c.18G>C (p.Ala6=) | |
| 19 | g.1401459C>T | CA504731758 | GAMT | c.18G>A (p.Ala6=) | ClinVar gnomAD v4 |
| 19 | g.1401460G>A | CA314838 | GAMT | c.17C>T (p.Ala6Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401460G>C | CA402998490 | GAMT | c.17C>G (p.Ala6Gly) | |
| 19 | g.1401460G= | CA2317700473 | GAMT | c.17C= (p.Ala6=) | |
| 19 | g.1401460G>T | CA402998491 | GAMT | c.17C>A (p.Ala6Glu) | gnomAD v4 |
| 19 | g.1401461C>A | CA402998497 | GAMT | c.16G>T (p.Ala6Ser) | gnomAD v4 |
| 19 | g.1401461C= | CA2317700474 | GAMT | c.16G= (p.Ala6=) | |
| 19 | g.1401461C>G | CA402998494 | GAMT | c.16G>C (p.Ala6Pro) | |
| 19 | g.1401461C>T | CA402998496 | GAMT | c.16G>A (p.Ala6Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401462G>A | CA504731759 | GAMT | c.15C>T (p.Ser5=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401462G>C | CA402998500 | GAMT | c.15C>G (p.Ser5Arg) | |
| 19 | g.1401462G= | CA2317700475 | GAMT | c.15C= (p.Ser5=) | |
| 19 | g.1401462G>T | CA402998502 | GAMT | c.15C>A (p.Ser5Arg) | gnomAD v4 |
| 19 | g.1401463C>A | CA402998505 | GAMT | c.14G>T (p.Ser5Ile) | gnomAD v4 |
| 19 | g.1401463C>G | CA402998506 | GAMT | c.14G>C (p.Ser5Thr) | |
| 19 | g.1401463C>T | CA402998509 | GAMT | c.14G>A (p.Ser5Asn) | |
| 19 | g.1401464T>A | CA402998512 | GAMT | c.13A>T (p.Ser5Cys) | |
| 19 | g.1401464T>C | CA402998516 | GAMT | c.13A>G (p.Ser5Gly) | gnomAD v4 |
| 19 | g.1401464T>G | CA402998513 | GAMT | c.13A>C (p.Ser5Arg) | |
| 19 | g.1401465G>A | CA504731760 | GAMT | c.12C>T (p.Pro4=) | gnomAD v4 |
| 19 | g.1401465G>C | CA504731762 | GAMT | c.12C>G (p.Pro4=) | |
| 19 | g.1401465G>T | CA504731761 | GAMT | c.12C>A (p.Pro4=) | gnomAD v4 |
| 19 | g.1401469dup | CA2582641929 | GAMT | c.12dup (p.Ser5GlnfsTer?) | gnomAD v4 |
| 19 | g.1401469del | CA2582641930 | GAMT | c.12del (p.Ser5AlafsTer?) | gnomAD v4 |
| 19 | g.1401468_1401469del | CA2580612592 | GAMT | c.11_12del (p.Pro4GlnfsTer?) | ClinVar |
| 19 | g.1401466G>A | CA304067371 | GAMT | c.11C>T (p.Pro4Leu) | dbSNP gnomAD v4 |
| 19 | g.1401466G>C | CA402998527 | GAMT | c.11C>G (p.Pro4Arg) | ClinVar dbSNP |
| 19 | g.1401466G= | CA2317700476 | GAMT | c.11C= (p.Pro4=) | |
| 19 | g.1401466G>T | CA402998529 | GAMT | c.11C>A (p.Pro4His) | gnomAD v4 |
| 19 | g.1401467G>A | CA304067374 | GAMT | c.10C>T (p.Pro4Ser) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401467G>C | CA402998533 | GAMT | c.10C>G (p.Pro4Ala) | |
| 19 | g.1401467G= | CA2317700477 | GAMT | c.10C= (p.Pro4=) | |
| 19 | g.1401467G>T | CA402998536 | GAMT | c.10C>A (p.Pro4Thr) | gnomAD v4 |
| 19 | g.1401468G>A | CA304067375 | GAMT | c.9C>T (p.Ala3=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401468G>C | CA504731763 | GAMT | c.9C>G (p.Ala3=) | |
| 19 | g.1401468G= | CA2317700478 | GAMT | c.9C= (p.Ala3=) | |
| 19 | g.1401468G>T | CA504731764 | GAMT | c.9C>A (p.Ala3=) | gnomAD v4 |
| 19 | g.1401469G>A | CA402998540 | GAMT | c.8C>T (p.Ala3Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.1401469G>C | CA402998541 | GAMT | c.8C>G (p.Ala3Gly) | |
| 19 | g.1401469G= | CA2317700479 | GAMT | c.8C= (p.Ala3=) | |
| 19 | g.1401469G>T | CA402998545 | GAMT | c.8C>A (p.Ala3Asp) | gnomAD v4 |
| 19 | g.1401470C>A | CA314794 | GAMT | c.7G>T (p.Ala3Ser) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401470C= | CA2317700480 | GAMT | c.7G= (p.Ala3=) | |
| 19 | g.1401470C>G | CA402998553 | GAMT | c.7G>C (p.Ala3Pro) | gnomAD v4 |
| 19 | g.1401470C>T | CA314792 | GAMT | c.7G>A (p.Ala3Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401471G>A | CA504731765 | GAMT | c.6C>T (p.Ser2=) | ClinVar gnomAD v4 |
| 19 | g.1401471G>C | CA402998557 | GAMT | c.6C>G (p.Ser2Arg) | gnomAD v4 |
| 19 | g.1401471G>T | CA402998558 | GAMT | c.6C>A (p.Ser2Arg) | gnomAD v4 |
| 19 | g.1401472C>A | CA402998561 | GAMT | c.5G>T (p.Ser2Ile) | dbSNP gnomAD v4 |
| 19 | g.1401472C= | CA2317700481 | GAMT | c.5G= (p.Ser2=) | |
| 19 | g.1401472C>G | CA402998568 | GAMT | c.5G>C (p.Ser2Thr) | |
| 19 | g.1401472C>T | CA402998565 | GAMT | c.5G>A (p.Ser2Asn) | gnomAD v4 |
| 19 | g.1401473T>A | CA402998569 | GAMT | c.4A>T (p.Ser2Cys) | gnomAD v4 |
| 19 | g.1401473T>C | CA402998573 | GAMT | c.4A>G (p.Ser2Gly) | gnomAD v4 |
| 19 | g.1401473T>G | CA402998571 | GAMT | c.4A>C (p.Ser2Arg) | |
| 19 | g.1401474C>A | CA402998575 | GAMT | c.3G>T (p.Met1Ile) | gnomAD v4 |
| 19 | g.1401474C= | CA2317700482 | GAMT | c.3G= (p.Met1=) | |
| 19 | g.1401474C>G | CA402998577 | GAMT | c.3G>C (p.Met1Ile) | |
| 19 | g.1401474C>T | CA402998580 | GAMT | c.3G>A (p.Met1Ile) | ClinVar dbSNP |
| 19 | g.1401475A>C | CA402998583 | GAMT | c.2T>G (p.Met1Arg) | |
| 19 | g.1401475A>G | CA402998586 | GAMT | c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401475A>T | CA402998588 | GAMT | c.2T>A (p.Met1Lys) | |
| 19 | g.1401476T>A | CA402998591 | GAMT | c.1A>T (p.Met1Leu) | |
| 19 | g.1401476T>C | CA314826 | GAMT | c.1A>G (p.Met1Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401476T>G | CA402998593 | GAMT | c.1A>C (p.Met1Leu) | |
| 19 | g.1401476T= | CA2317700483 | GAMT | c.1A= (p.Met1=) | |
| 19 | g.1401477G>A | CA304067376 | GAMT | c.-1C>T (n.-1C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401477G= | CA2317700484 | GAMT | c.-1C= (n.-1C=) | |
| 19 | g.1401477G>T | CA2582641931 | GAMT | c.-1C>A (n.-1C>A) | gnomAD v4 |
| 19 | g.1401478C>A | CA2582641932 | GAMT | c.-2G>T (n.-2G>T) | gnomAD v4 |
| 19 | g.1401478C= | CA2317700485 | GAMT | c.-2G= (n.-2G=) | |
| 19 | g.1401478C>T | CA2317700486 | GAMT | c.-2G>A (n.-2G>A) | dbSNP gnomAD v4 |
| 19 | g.1401479T>C | CA2582641933 | GAMT | c.-3A>G (n.-3A>G) | gnomAD v4 |
| 19 | g.1401480G>A | CA783507810 | GAMT | c.-4C>T (n.-4C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1401480G= | CA2317700487 | GAMT | c.-4C= (n.-4C=) | |
| 19 | g.1401481C>A | CA2582641934 | GAMT | c.-5G>T (n.-5G>T) | gnomAD v4 |
| 19 | g.1401481C= | CA2317700488 | GAMT | c.-5G= (n.-5G=) | |
| 19 | g.1401481C>G | CA2582641935 | GAMT | c.-5G>C (n.-5G>C) | gnomAD v4 |
| 19 | g.1401481C>T | CA2317700489 | GAMT | c.-5G>A (n.-5G>A) | dbSNP gnomAD v4 |
| 19 | g.1401482A>G | CA2582641936 | GAMT | c.-6T>C (n.-6T>C) | gnomAD v4 |
| 19 | g.1401483G>A | CA2582641938 | GAMT | c.-7C>T (n.-7C>T) | gnomAD v4 |
| 19 | g.1401483G>C | CA2582641937 | GAMT | c.-7C>G (n.-7C>G) | gnomAD v4 |
| 19 | g.1401484G>A | CA2317700491 | GAMT | c.-8C>T (n.-8C>T) | dbSNP gnomAD v4 |
| 19 | g.1401484G>C | CA658799100 | GAMT | c.-8C>G (n.-8C>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401484G= | CA2317700490 | GAMT | c.-8C= (n.-8C=) | |
| 19 | g.1401484G>T | CA2582641939 | GAMT | c.-8C>A (n.-8C>A) | gnomAD v4 |
| 19 | g.1401485C>A | CA2576548787 | GAMT | c.-9G>T (n.-9G>T) | gnomAD v4 |
| 19 | g.1401485C>T | CA2582641940 | GAMT | c.-9G>A (n.-9G>A) | gnomAD v4 |
| 19 | g.1401486T>C | CA2317700493 | GAMT | c.-10A>G (n.-10A>G) | dbSNP gnomAD v4 |
| 19 | g.1401486T= | CA2317700492 | GAMT | c.-10A= (n.-10A=) | |
| 19 | g.1401487G>A | CA2582641941 | GAMT | c.-11C>T (n.-11C>T) | gnomAD v4 |
| 19 | g.1401487G= | CA2317700494 | GAMT | c.-11C= (n.-11C=) | |
| 19 | g.1401487G>T | CA304067377 | GAMT | c.-11C>A (n.-11C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401488G>A | CA9043814 | GAMT | c.-12C>T (n.-12C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.1401488G>C | CA2582641942 | GAMT | c.-12C>G (n.-12C>G) | gnomAD v4 |
| 19 | g.1401488G= | CA2317700495 | GAMT | c.-12C= (n.-12C=) | |
| 19 | g.1401488G>T | CA304067379 | GAMT | c.-12C>A (n.-12C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1401489A>G | CA2576548788 | GAMT | c.-13T>C (n.-13T>C) | gnomAD v4 |
| 19 | g.1401490C>A | CA2582641944 | GAMT | c.-14G>T (n.-14G>T) | gnomAD v4 |
| 19 | g.1401490C>G | CA2582641943 | GAMT | c.-14G>C (n.-14G>C) | gnomAD v4 |
| 19 | g.1401490C>T | CA2538005087 | GAMT | c.-14G>A (n.-14G>A) | gnomAD v4 |
| 19 | g.1401491G>A | CA2582641945 | GAMT | c.-15C>T (n.-15C>T) | gnomAD v4 |
| 19 | g.1401491G>C | CA2317700497 | GAMT | c.-15C>G (n.-15C>G) | dbSNP gnomAD v4 |
| 19 | g.1401491G= | CA2317700496 | GAMT | c.-15C= (n.-15C=) | |
| 19 | g.1401491G>T | CA2317700498 | GAMT | c.-15C>A (n.-15C>A) | dbSNP gnomAD v4 |
| 19 | g.1401492G>A | CA2582641946 | GAMT | c.-16C>T (n.-16C>T) | gnomAD v4 |
| 19 | g.1401492G>T | CA2582641947 | GAMT | c.-16C>A (n.-16C>A) | gnomAD v4 |
| 19 | g.1401493C>A | CA2582641949 | GAMT | c.-17G>T (n.-17G>T) | gnomAD v4 |
| 19 | g.1401493C>T | CA2582641950 | GAMT | c.-17G>A (n.-17G>A) | gnomAD v4 |
| 19 | g.1401496_1401506del | CA2582641948 | GAMT | c.-27_-17del (n.-27_-17del) | gnomAD v4 |