Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1401406_1401509del | CA2582641923 | GAMT | c.-31_73del | gnomAD v4 |
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.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 |