Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
9 | g.101427601_101427602delinsCT | CA1868280117 | ALDOB | c.420_421delinsAG (p.Lys140=) n.68-964_68-963delinsAG | |
9 | g.101427602T>A | CA374265399 | ALDOB | c.420A>T (p.Lys140Asn) n.68-964A>T | |
9 | g.101427602T>C | CA466462921 | ALDOB | c.420A>G (p.Lys140=) n.68-964A>G | |
9 | g.101427602T>G | CA374265400 | ALDOB | c.420A>C (p.Lys140Asn) n.68-964A>C | |
9 | g.101427604del | CA16041286 | ALDOB | c.420del (p.Asp141MetfsTer12) n.68-964del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101427603T>A | CA374265401 | ALDOB | c.419A>T (p.Lys140Ile) n.68-965A>T | |
9 | g.101427603T>C | CA374265402 | ALDOB | c.419A>G (p.Lys140Arg) n.68-965A>G | |
9 | g.101427603T>G | CA374265403 | ALDOB | c.419A>C (p.Lys140Thr) n.68-965A>C | |
9 | g.101427604T>A | CA374265404 | ALDOB | c.418A>T (p.Lys140Ter) n.68-966A>T | |
9 | g.101427604T>C | CA374265405 | ALDOB | c.418A>G (p.Lys140Glu) n.68-966A>G | |
9 | g.101427604T>G | CA374265406 | ALDOB | c.418A>C (p.Lys140Gln) n.68-966A>C | |
9 | g.101427605C>A | CA374265407 | ALDOB | c.417G>T (p.Lys139Asn) n.68-967G>T | COSMIC |
9 | g.101427605C>G | CA374265408 | ALDOB | c.417G>C (p.Lys139Asn) n.68-967G>C | |
9 | g.101427605C>T | CA466462922 | ALDOB | c.417G>A (p.Lys139=) n.68-967G>A | |
9 | g.101427606T>A | CA374265409 | ALDOB | c.416A>T (p.Lys139Met) n.68-968A>T | |
9 | g.101427606T>C | CA374265410 | ALDOB | c.416A>G (p.Lys139Arg) n.68-968A>G | |
9 | g.101427606T>G | CA374265411 | ALDOB | c.416A>C (p.Lys139Thr) n.68-968A>C | |
9 | g.101427607T>A | CA374265412 | ALDOB | c.415A>T (p.Lys139Ter) n.68-969A>T | |
9 | g.101427607T>C | CA5161607 | ALDOB | c.415A>G (p.Lys139Glu) n.68-969A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101427607T>G | CA374265413 | ALDOB | c.415A>C (p.Lys139Gln) n.68-969A>C | gnomAD v4 |
9 | g.101427607T= | CA1868280118 | ALDOB | c.415A= (p.Lys139=) n.68-969A= | |
9 | g.101427608del | CA2691007537 | ALDOB | c.414del (p.Tyr138Ter) n.68-970del | gnomAD v4 |
9 | g.101427608G>A | CA466462923 | ALDOB | c.414C>T (p.Tyr138=) n.68-970C>T | |
9 | g.101427608G>C | CA374265414 | ALDOB | c.414C>G (p.Tyr138Ter) n.68-970C>G | |
9 | g.101427608G>T | CA374265415 | ALDOB | c.414C>A (p.Tyr138Ter) n.68-970C>A | |
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= |