Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
9 | g.101427616C>A | CA374265430 | ALDOB | c.406G>T (p.Ala136Ser) n.68-978G>T | |
9 | g.101427616C= | CA1868280123 | ALDOB | c.406G= (p.Ala136=) n.68-978G= | |
9 | g.101427616C>G | CA374265431 | ALDOB | c.406G>C (p.Ala136Pro) n.68-978G>C | |
9 | g.101427616C>T | CA374265432 | ALDOB | c.406G>A (p.Ala136Thr) n.68-978G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101427617A>C | CA374265433 | ALDOB | c.405T>G (p.Cys135Trp) n.68-979T>G | |
9 | g.101427617A>G | CA466462928 | ALDOB | c.405T>C (p.Cys135=) n.68-979T>C | |
9 | g.101427617A>T | CA374265434 | ALDOB | c.405T>A (p.Cys135Ter) n.68-979T>A | |
9 | g.101427618C>A | CA374265435 | ALDOB | c.404G>T (p.Cys135Phe) n.68-980G>T | |
9 | g.101427618C= | CA1868280124 | ALDOB | c.404G= (p.Cys135=) n.68-980G= | |
9 | g.101427618C>G | CA374265436 | ALDOB | c.404G>C (p.Cys135Ser) n.68-980G>C | gnomAD v4 |
9 | g.101427618C>T | CA374265437 | ALDOB | c.404G>A (p.Cys135Tyr) n.68-980G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427619A>C | CA374265438 | ALDOB | c.403T>G (p.Cys135Gly) n.68-981T>G | |
9 | g.101427619A>G | CA374265439 | ALDOB | c.403T>C (p.Cys135Arg) n.68-981T>C | ClinVar dbSNP |
9 | g.101427619A>T | CA374265440 | ALDOB | c.403T>A (p.Cys135Ser) n.68-981T>A | |
9 | g.101427620G>A | CA466462929 | ALDOB | c.402C>T (p.Arg134=) n.68-982C>T | ClinVar |
9 | g.101427620G>C | CA466462930 | ALDOB | c.402C>G (p.Arg134=) n.68-982C>G | |
9 | g.101427620G>T | CA466462931 | ALDOB | c.402C>A (p.Arg134=) n.68-982C>A | |
9 | g.101427621C>A | CA5161611 | ALDOB | c.401G>T (p.Arg134Leu) n.68-983G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427621C= | CA1868280125 | ALDOB | c.401G= (p.Arg134=) n.68-983G= | |
9 | g.101427621C>G | CA374265441 | ALDOB | c.401G>C (p.Arg134Pro) n.68-983G>C | |
9 | g.101427621C>T | CA5161612 | ALDOB | c.401G>A (p.Arg134His) n.68-983G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427622G>A | CA5161614 | ALDOB | c.400C>T (p.Arg134Cys) n.68-984C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427622G>C | CA374265442 | ALDOB | c.400C>G (p.Arg134Gly) n.68-984C>G | |
9 | g.101427622G= | CA1868280126 | ALDOB | c.400C= (p.Arg134=) n.68-984C= | |
9 | g.101427622G>T | CA5161613 | ALDOB | c.400C>A (p.Arg134Ser) n.68-984C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427623C>A | CA374265443 | ALDOB | c.399G>T (p.Glu133Asp) n.68-985G>T | |
9 | g.101427623C= | CA1868280127 | ALDOB | c.399G= (p.Glu133=) n.68-985G= | |
9 | g.101427623C>G | CA374265444 | ALDOB | c.399G>C (p.Glu133Asp) n.68-985G>C | |
9 | g.101427623C>T | CA466462932 | ALDOB | c.399G>A (p.Glu133=) n.68-985G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.101427624T>A | CA374265445 | ALDOB | c.398A>T (p.Glu133Val) n.68-986A>T | |
9 | g.101427624T>C | CA374265446 | ALDOB | c.398A>G (p.Glu133Gly) n.68-986A>G | |
9 | g.101427624T>G | CA374265447 | ALDOB | c.398A>C (p.Glu133Ala) n.68-986A>C | |
9 | g.101427625del | CA2691007538 | ALDOB | c.397del (p.Glu133SerfsTer20) n.68-987del | gnomAD v4 |
9 | g.101427625C>A | CA374265448 | ALDOB | c.397G>T (p.Glu133Ter) n.68-987G>T | |
9 | g.101427625C>G | CA374265449 | ALDOB | c.397G>C (p.Glu133Gln) n.68-987G>C | |
9 | g.101427625C>T | CA374265450 | ALDOB | c.397G>A (p.Glu133Lys) n.68-987G>A | |
9 | g.101427626T>A | CA466462933 | ALDOB | c.396A>T (p.Ser132=) n.68-988A>T | |
9 | g.101427626T>C | CA5161615 | ALDOB | c.396A>G (p.Ser132=) n.68-988A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101427626T>G | CA466462934 | ALDOB | c.396A>C (p.Ser132=) n.68-988A>C | |
9 | g.101427626T= | CA1868280128 | ALDOB | c.396A= (p.Ser132=) n.68-988A= | |
9 | g.101427627G>A | CA374265453 | ALDOB | c.395C>T (p.Ser132Leu) n.68-989C>T | COSMIC |
9 | g.101427627G>C | CA374265452 | ALDOB | c.395C>G (p.Ser132Ter) n.68-989C>G | COSMIC |
9 | g.101427627G>T | CA374265451 | ALDOB | c.395C>A (p.Ser132Ter) n.68-989C>A | |
9 | g.101427627_101427628insT | CA2691007539 | ALDOB | c.394_395insA (p.Ser132TyrfsTer13) n.68-990_68-989insA | gnomAD v4 |
9 | g.101427628A>C | CA374265454 | ALDOB | c.394T>G (p.Ser132Ala) n.68-990T>G | |
9 | g.101427628A>G | CA374265455 | ALDOB | c.394T>C (p.Ser132Pro) n.68-990T>C | |
9 | g.101427628A>T | CA374265456 | ALDOB | c.394T>A (p.Ser132Thr) n.68-990T>A | |
9 | g.101427629G>A | CA466462937 | ALDOB | c.393C>T (p.Leu131=) n.68-991C>T | COSMIC |
9 | g.101427629G>C | CA466462935 | ALDOB | c.393C>G (p.Leu131=) n.68-991C>G | gnomAD v4 |