| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101425219_101426793del | CA2499219516 | ALDOB | c.541-153_800-175del | ClinVar |
| 9 | g.101425541T>A | CA466462025 | ALDOB | c.711A>T (p.Gly237=) | |
| 9 | g.101425541T>C | CA466462026 | ALDOB | c.711A>G (p.Gly237=) | dbSNP |
| 9 | g.101425541T>G | CA466462027 | ALDOB | c.711A>C (p.Gly237=) | |
| 9 | g.101425541T= | CA1868279118 | ALDOB | c.711A= (p.Gly237=) | |
| 9 | g.101425542C>A | CA374264785 | ALDOB | c.710G>T (p.Gly237Val) | |
| 9 | g.101425542C= | CA1868279119 | ALDOB | c.710G= (p.Gly237=) | |
| 9 | g.101425542C>G | CA374264784 | ALDOB | c.710G>C (p.Gly237Ala) | gnomAD v4 |
| 9 | g.101425542C>T | CA374264783 | ALDOB | c.710G>A (p.Gly237Glu) | dbSNP gnomAD v4 |
| 9 | g.101425543C>A | CA374264786 | ALDOB | c.709G>T (p.Gly237Ter) | |
| 9 | g.101425543C>G | CA374264787 | ALDOB | c.709G>C (p.Gly237Arg) | |
| 9 | g.101425543C>T | CA374264788 | ALDOB | c.709G>A (p.Gly237Arg) | |
| 9 | g.101425544A= | CA1868279120 | ALDOB | c.708T= (p.Ala236=) | |
| 9 | g.101425544A>C | CA466462028 | ALDOB | c.708T>G (p.Ala236=) | |
| 9 | g.101425544A>G | CA5161496 | ALDOB | c.708T>C (p.Ala236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425544A>T | CA466462029 | ALDOB | c.708T>A (p.Ala236=) | |
| 9 | g.101425545G>A | CA374264789 | ALDOB | c.707C>T (p.Ala236Val) | |
| 9 | g.101425545G>C | CA374264790 | ALDOB | c.707C>G (p.Ala236Gly) | |
| 9 | g.101425545G>T | CA374264791 | ALDOB | c.707C>A (p.Ala236Asp) | dbSNP |
| 9 | g.101425546C>A | CA374264792 | ALDOB | c.706G>T (p.Ala236Ser) | dbSNP gnomAD v4 |
| 9 | g.101425546C= | CA1868279121 | ALDOB | c.706G= (p.Ala236=) | |
| 9 | g.101425546C>G | CA374264793 | ALDOB | c.706G>C (p.Ala236Pro) | |
| 9 | g.101425546C>T | CA5161497 | ALDOB | c.706G>A (p.Ala236Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425547A= | CA1868279122 | ALDOB | c.705T= (p.Thr235=) | |
| 9 | g.101425547A>C | CA466462032 | ALDOB | c.705T>G (p.Thr235=) | ClinVar gnomAD v4 |
| 9 | g.101425547A>G | CA466462030 | ALDOB | c.705T>C (p.Thr235=) | |
| 9 | g.101425547A>T | CA466462031 | ALDOB | c.705T>A (p.Thr235=) | dbSNP |
| 9 | g.101425547_101425548insCATTG | CA2500023601 | ALDOB | c.704_705insCAATG (p.Ala236AsnfsTer16) | |
| 9 | g.101425548G>A | CA374264794 | ALDOB | c.704C>T (p.Thr235Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425548G>C | CA374264795 | ALDOB | c.704C>G (p.Thr235Ser) | |
| 9 | g.101425548G= | CA1868279123 | ALDOB | c.704C= (p.Thr235=) | |
| 9 | g.101425548G>T | CA374264796 | ALDOB | c.704C>A (p.Thr235Asn) | |
| 9 | g.101425549T>A | CA374264799 | ALDOB | c.703A>T (p.Thr235Ser) | |
| 9 | g.101425549T>C | CA374264798 | ALDOB | c.703A>G (p.Thr235Ala) | |
| 9 | g.101425549T>G | CA374264797 | ALDOB | c.703A>C (p.Thr235Pro) | |
| 9 | g.101425550C>A | CA466462033 | ALDOB | c.702G>T (p.Val234=) | |
| 9 | g.101425550C>G | CA466462034 | ALDOB | c.702G>C (p.Val234=) | |
| 9 | g.101425550C>T | CA466462035 | ALDOB | c.702G>A (p.Val234=) | |
| 9 | g.101425550_101425551delinsCA | CA1868279124 | ALDOB | c.701_702delinsTG (p.Val234=) | |
| 9 | g.101425550_101425551insT | CA2559890866 | ALDOB | c.701_702insA (p.Thr235AspfsTer?) | |
| 9 | g.101425551del | CA5161498 | ALDOB | c.701del (p.Val234GlyfsTer16) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425551A>C | CA374264801 | ALDOB | c.701T>G (p.Val234Gly) | |
| 9 | g.101425551A>G | CA374264800 | ALDOB | c.701T>C (p.Val234Ala) | |
| 9 | g.101425551A>T | CA374264802 | ALDOB | c.701T>A (p.Val234Glu) | |
| 9 | g.101425552C>A | CA374264803 | ALDOB | c.700G>T (p.Val234Leu) | |
| 9 | g.101425552C>G | CA374264805 | ALDOB | c.700G>C (p.Val234Leu) | |
| 9 | g.101425552C>T | CA374264804 | ALDOB | c.700G>A (p.Val234Met) | |
| 9 | g.101425552_101425553del | CA2525042984 | ALDOB | c.699_700del (p.Met233IlefsTer?) | |
| 9 | g.101425553dup | CA2691007161 | ALDOB | c.700dup (p.Val234GlyfsTer?) | gnomAD v4 |
| 9 | g.101425553C>A | CA374264806 | ALDOB | c.699G>T (p.Met233Ile) |