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