Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
9 | g.101427609T>A | CA374265416 | ALDOB | c.413A>T (p.Tyr138Phe) n.68-971A>T | |
9 | g.101427609T>C | CA5161608 | ALDOB | c.413A>G (p.Tyr138Cys) n.68-971A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427609T>G | CA374265417 | ALDOB | c.413A>C (p.Tyr138Ser) n.68-971A>C | |
9 | g.101427609T= | CA1868280119 | ALDOB | c.413A= (p.Tyr138=) n.68-971A= | |
9 | g.101427610A= | CA1868280120 | ALDOB | c.412T= (p.Tyr138=) n.68-972T= | |
9 | g.101427610A>C | CA374265418 | ALDOB | c.412T>G (p.Tyr138Asp) n.68-972T>G | |
9 | g.101427610A>G | CA374265419 | ALDOB | c.412T>C (p.Tyr138His) n.68-972T>C | dbSNP |
9 | g.101427610A>T | CA374265420 | ALDOB | c.412T>A (p.Tyr138Asn) n.68-972T>A | |
9 | g.101427611C>A | CA374265421 | ALDOB | c.411G>T (p.Gln137His) n.68-973G>T | |
9 | g.101427611C>G | CA374265422 | ALDOB | c.411G>C (p.Gln137His) n.68-973G>C | |
9 | g.101427611C>T | CA466462924 | ALDOB | c.411G>A (p.Gln137=) n.68-973G>A | |
9 | g.101427612T>A | CA374265423 | ALDOB | c.410A>T (p.Gln137Leu) n.68-974A>T | |
9 | g.101427612T>C | CA5161609 | ALDOB | c.410A>G (p.Gln137Arg) n.68-974A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427612T>G | CA374265424 | ALDOB | c.410A>C (p.Gln137Pro) n.68-974A>C | |
9 | g.101427612T= | CA1868280121 | ALDOB | c.410A= (p.Gln137=) n.68-974A= | |
9 | g.101427613G>A | CA374265427 | ALDOB | c.409C>T (p.Gln137Ter) n.68-975C>T | |
9 | g.101427613G>C | CA374265426 | ALDOB | c.409C>G (p.Gln137Glu) n.68-975C>G | |
9 | g.101427613G>T | CA374265425 | ALDOB | c.409C>A (p.Gln137Lys) n.68-975C>A | |
9 | g.101427614A>C | CA466462927 | ALDOB | c.408T>G (p.Ala136=) n.68-976T>G | |
9 | g.101427614A>G | CA466462925 | ALDOB | c.408T>C (p.Ala136=) n.68-976T>C | |
9 | g.101427614A>T | CA466462926 | ALDOB | c.408T>A (p.Ala136=) n.68-976T>A | |
9 | g.101427615G>A | CA374265428 | ALDOB | c.407C>T (p.Ala136Val) n.68-977C>T | dbSNP gnomAD v4 |
9 | g.101427615G>C | CA5161610 | ALDOB | c.407C>G (p.Ala136Gly) n.68-977C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427615G= | CA1868280122 | ALDOB | c.407C= (p.Ala136=) n.68-977C= | |
9 | g.101427615G>T | CA374265429 | ALDOB | c.407C>A (p.Ala136Asp) n.68-977C>A | |
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= |