| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101425219_101426793del | CA2499219516 | ALDOB | c.541-153_800-175del | ClinVar |
| 9 | g.101425462_101425473dup | CA2720258646 | ALDOB | c.788_799dup (p.Pro266_Gly267insAlaAlaValPro) | dbSNP |
| 9 | g.101425457A= | CA1868279013 | ALDOB | c.795T= (p.Val265=) | |
| 9 | g.101425457A>C | CA466461970 | ALDOB | c.795T>G (p.Val265=) | |
| 9 | g.101425457A>G | CA466461971 | ALDOB | c.795T>C (p.Val265=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425457A>T | CA466461972 | ALDOB | c.795T>A (p.Val265=) | |
| 9 | g.101425458A>C | CA374264621 | ALDOB | c.794T>G (p.Val265Gly) | |
| 9 | g.101425458A>G | CA374264620 | ALDOB | c.794T>C (p.Val265Ala) | ClinVar |
| 9 | g.101425458A>T | CA374264619 | ALDOB | c.794T>A (p.Val265Asp) | gnomAD v4 |
| 9 | g.101425459C>A | CA374264622 | ALDOB | c.793G>T (p.Val265Phe) | |
| 9 | g.101425459C>G | CA374264623 | ALDOB | c.793G>C (p.Val265Leu) | gnomAD v4 |
| 9 | g.101425459C>T | CA374264624 | ALDOB | c.793G>A (p.Val265Ile) | |
| 9 | g.101425460A>C | CA466461973 | ALDOB | c.792T>G (p.Ala264=) | |
| 9 | g.101425460A>G | CA466461974 | ALDOB | c.792T>C (p.Ala264=) | gnomAD v4 |
| 9 | g.101425460A>T | CA466461975 | ALDOB | c.792T>A (p.Ala264=) | |
| 9 | g.101425461G>A | CA5161476 | ALDOB | c.791C>T (p.Ala264Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425461G>C | CA374264625 | ALDOB | c.791C>G (p.Ala264Gly) | |
| 9 | g.101425461G= | CA1868279015 | ALDOB | c.791C= (p.Ala264=) | |
| 9 | g.101425461G>T | CA374264626 | ALDOB | c.791C>A (p.Ala264Asp) | |
| 9 | g.101425462C>A | CA374264627 | ALDOB | c.790G>T (p.Ala264Ser) | |
| 9 | g.101425462C>G | CA374264629 | ALDOB | c.790G>C (p.Ala264Pro) | |
| 9 | g.101425462C>T | CA374264628 | ALDOB | c.790G>A (p.Ala264Thr) | |
| 9 | g.101425463T>A | CA466461976 | ALDOB | c.789A>T (p.Ala263=) | |
| 9 | g.101425463T>C | CA466461977 | ALDOB | c.789A>G (p.Ala263=) | |
| 9 | g.101425463T>G | CA466461978 | ALDOB | c.789A>C (p.Ala263=) | |
| 9 | g.101425464G>A | CA374264630 | ALDOB | c.788C>T (p.Ala263Val) | |
| 9 | g.101425464G>C | CA374264631 | ALDOB | c.788C>G (p.Ala263Gly) | |
| 9 | g.101425464G>T | CA374264632 | ALDOB | c.788C>A (p.Ala263Glu) | |
| 9 | g.101425465C>A | CA374264633 | ALDOB | c.787G>T (p.Ala263Ser) | gnomAD v4 |
| 9 | g.101425465C= | CA1868279016 | ALDOB | c.787G= (p.Ala263=) | |
| 9 | g.101425465C>G | CA374264634 | ALDOB | c.787G>C (p.Ala263Pro) | |
| 9 | g.101425465C>T | CA374264635 | ALDOB | c.787G>A (p.Ala263Thr) | dbSNP gnomAD v4 |
| 9 | g.101425466A= | CA1868279018 | ALDOB | c.786T= (p.Pro262=) | |
| 9 | g.101425466A>C | CA466461979 | ALDOB | c.786T>G (p.Pro262=) | |
| 9 | g.101425466A>G | CA466461981 | ALDOB | c.786T>C (p.Pro262=) | |
| 9 | g.101425466A>T | CA466461980 | ALDOB | c.786T>A (p.Pro262=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425467G>A | CA374264636 | ALDOB | c.785C>T (p.Pro262Leu) | |
| 9 | g.101425467G>C | CA374264637 | ALDOB | c.785C>G (p.Pro262Arg) | |
| 9 | g.101425467G>T | CA374264638 | ALDOB | c.785C>A (p.Pro262His) | gnomAD v4 |
| 9 | g.101425468G>A | CA374264639 | ALDOB | c.784C>T (p.Pro262Ser) | |
| 9 | g.101425468G>C | CA374264640 | ALDOB | c.784C>G (p.Pro262Ala) | |
| 9 | g.101425468G>T | CA374264641 | ALDOB | c.784C>A (p.Pro262Thr) | |
| 9 | g.101425469A>C | CA466461982 | ALDOB | c.783T>G (p.Val261=) | |
| 9 | g.101425469A>G | CA466461983 | ALDOB | c.783T>C (p.Val261=) | |
| 9 | g.101425469A>T | CA466461984 | ALDOB | c.783T>A (p.Val261=) | |
| 9 | g.101425470A>C | CA374264643 | ALDOB | c.782T>G (p.Val261Gly) | |
| 9 | g.101425470A>G | CA374264644 | ALDOB | c.782T>C (p.Val261Ala) | |
| 9 | g.101425470A>T | CA374264642 | ALDOB | c.782T>A (p.Val261Asp) | |
| 9 | g.101425471C>A | CA374264645 | ALDOB | c.781G>T (p.Val261Phe) | |
| 9 | g.101425471C>G | CA374264647 | ALDOB | c.781G>C (p.Val261Leu) | gnomAD v4 |