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