Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
9 | g.101428478_101428505del | CA2499219520 | ALDOB | c.345_372del (p.Leu116PhefsTer28) n.67+1306_67+1333del | ClinVar dbSNP |
9 | g.101428491_101428494dup | CA1868280507 | ALDOB | c.360_363dup (p.Glu122GlnfsTer9) n.67+1321_67+1324dup | dbSNP |
9 | g.101428491_101428494del | CA114307 | ALDOB | c.360_363del (p.Asn120LysfsTer?) n.67+1321_67+1324del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.101428492G>A | CA374265547 | ALDOB | c.356C>T (p.Thr119Ile) n.67+1317C>T | |
9 | g.101428492G>C | CA374265548 | ALDOB | c.356C>G (p.Thr119Arg) n.67+1317C>G | dbSNP |
9 | g.101428492G= | CA1868280511 | ALDOB | c.356C= (p.Thr119=) n.67+1317C= | |
9 | g.101428492G>T | CA374265549 | ALDOB | c.356C>A (p.Thr119Lys) n.67+1317C>A | |
9 | g.101428493T>A | CA374265550 | ALDOB | c.355A>T (p.Thr119Ser) n.67+1316A>T | |
9 | g.101428493T>C | CA374265551 | ALDOB | c.355A>G (p.Thr119Ala) n.67+1316A>G | |
9 | g.101428493T>G | CA374265552 | ALDOB | c.355A>C (p.Thr119Pro) n.67+1316A>C | |
9 | g.101428494T>A | CA466462960 | ALDOB | c.354A>T (p.Gly118=) n.67+1315A>T | |
9 | g.101428494T>C | CA466462961 | ALDOB | c.354A>G (p.Gly118=) n.67+1315A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101428494T>G | CA466462962 | ALDOB | c.354A>C (p.Gly118=) n.67+1315A>C | |
9 | g.101428494T= | CA1868280512 | ALDOB | c.354A= (p.Gly118=) n.67+1315A= | |
9 | g.101428495C>A | CA374265553 | ALDOB | c.353G>T (p.Gly118Val) n.67+1314G>T | |
9 | g.101428495C= | CA1868280513 | ALDOB | c.353G= (p.Gly118=) n.67+1314G= | |
9 | g.101428495C>G | CA374265554 | ALDOB | c.353G>C (p.Gly118Ala) n.67+1314G>C | dbSNP |
9 | g.101428495C>T | CA374265555 | ALDOB | c.353G>A (p.Gly118Glu) n.67+1314G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.101428496C>A | CA374265556 | ALDOB | c.352G>T (p.Gly118Ter) n.67+1313G>T | |
9 | g.101428496C= | CA1868280514 | ALDOB | c.352G= (p.Gly118=) n.67+1313G= | |
9 | g.101428496C>G | CA374265557 | ALDOB | c.352G>C (p.Gly118Arg) n.67+1313G>C | |
9 | g.101428496C>T | CA5161648 | ALDOB | c.352G>A (p.Gly118Arg) n.67+1313G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101428497T>A | CA466462963 | ALDOB | c.351A>T (p.Ala117=) n.67+1312A>T | |
9 | g.101428497T>C | CA466462965 | ALDOB | c.351A>G (p.Ala117=) n.67+1312A>G | ClinVar dbSNP |
9 | g.101428497T>G | CA466462964 | ALDOB | c.351A>C (p.Ala117=) n.67+1312A>C | |
9 | g.101428498G>A | CA374265558 | ALDOB | c.350C>T (p.Ala117Val) n.67+1311C>T | gnomAD v4 |
9 | g.101428498G>C | CA374265560 | ALDOB | c.350C>G (p.Ala117Gly) n.67+1311C>G | |
9 | g.101428498G>T | CA374265559 | ALDOB | c.350C>A (p.Ala117Glu) n.67+1311C>A | |
9 | g.101428499C>A | CA196957682 | ALDOB | c.349G>T (p.Ala117Ser) n.67+1310G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101428499C= | CA1868280515 | ALDOB | c.349G= (p.Ala117=) n.67+1310G= | |
9 | g.101428499C>G | CA374265561 | ALDOB | c.349G>C (p.Ala117Pro) n.67+1310G>C | |
9 | g.101428499C>T | CA374265562 | ALDOB | c.349G>A (p.Ala117Thr) n.67+1310G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101428500A= | CA1868280516 | ALDOB | c.348T= (p.Leu116=) n.67+1309T= | |
9 | g.101428500A>C | CA466462966 | ALDOB | c.348T>G (p.Leu116=) n.67+1309T>G | |
9 | g.101428500A>G | CA466462967 | ALDOB | c.348T>C (p.Leu116=) n.67+1309T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101428500A>T | CA466462968 | ALDOB | c.348T>A (p.Leu116=) n.67+1309T>A | |
9 | g.101428501A>C | CA374265563 | ALDOB | c.347T>G (p.Leu116Arg) n.67+1308T>G | |
9 | g.101428501A>G | CA374265564 | ALDOB | c.347T>C (p.Leu116Pro) n.67+1308T>C | |
9 | g.101428501A>T | CA374265565 | ALDOB | c.347T>A (p.Leu116His) n.67+1308T>A | |
9 | g.101428502G>A | CA374265566 | ALDOB | c.346C>T (p.Leu116Phe) n.67+1307C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101428502G>C | CA374265567 | ALDOB | c.346C>G (p.Leu116Val) n.67+1307C>G | |
9 | g.101428502G= | CA1868280517 | ALDOB | c.346C= (p.Leu116=) n.67+1307C= | |
9 | g.101428502G>T | CA374265568 | ALDOB | c.346C>A (p.Leu116Ile) n.67+1307C>A | |
9 | g.101428503A= | CA1868280518 | ALDOB | c.345T= (p.Pro115=) n.67+1306T= | |
9 | g.101428503A>C | CA466462969 | ALDOB | c.345T>G (p.Pro115=) n.67+1306T>G | |
9 | g.101428503A>G | CA466462970 | ALDOB | c.345T>C (p.Pro115=) n.67+1306T>C | gnomAD v4 |
9 | g.101428503A>T | CA466462971 | ALDOB | c.345T>A (p.Pro115=) n.67+1306T>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101428504G>A | CA5161649 | ALDOB | c.344C>T (p.Pro115Leu) n.67+1305C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101428504G>C | CA374265569 | ALDOB | c.344C>G (p.Pro115Arg) n.67+1305C>G |