| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101425219_101426793del | CA2499219516 | ALDOB | c.541-153_800-175del | ClinVar |
| 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) | |
| 9 | g.101425553C>G | CA374264807 | ALDOB | c.699G>C (p.Met233Ile) | |
| 9 | g.101425553C>T | CA374264808 | ALDOB | c.699G>A (p.Met233Ile) | |
| 9 | g.101425554A= | CA1868279125 | ALDOB | c.698T= (p.Met233=) | |
| 9 | g.101425554A>C | CA374264809 | ALDOB | c.698T>G (p.Met233Arg) | |
| 9 | g.101425554A>G | CA374264810 | ALDOB | c.698T>C (p.Met233Thr) | |
| 9 | g.101425554A>T | CA5161499 | ALDOB | c.698T>A (p.Met233Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425555T>A | CA374264813 | ALDOB | c.697A>T (p.Met233Leu) | |
| 9 | g.101425555T>C | CA374264811 | ALDOB | c.697A>G (p.Met233Val) | |
| 9 | g.101425555T>G | CA374264812 | ALDOB | c.697A>C (p.Met233Leu) | |
| 9 | g.101425556G>A | CA466462037 | ALDOB | c.696C>T (p.Asn232=) | gnomAD v4 COSMIC |
| 9 | g.101425556G>C | CA374264814 | ALDOB | c.696C>G (p.Asn232Lys) | |
| 9 | g.101425556G>T | CA374264815 | ALDOB | c.696C>A (p.Asn232Lys) | |
| 9 | g.101425556_101425557insAGGCCTGGAGA | CA2523850206 | ALDOB | c.695_696insTCTCCAGGCCT (p.Met233LeufsTer6) | |
| 9 | g.101425557T>A | CA374264816 | ALDOB | c.695A>T (p.Asn232Ile) | |
| 9 | g.101425557T>C | CA374264817 | ALDOB | c.695A>G (p.Asn232Ser) | dbSNP gnomAD v4 |
| 9 | g.101425557T>G | CA374264818 | ALDOB | c.695A>C (p.Asn232Thr) | gnomAD v4 |
| 9 | g.101425557T= | CA1868279126 | ALDOB | c.695A= (p.Asn232=) | |
| 9 | g.101425558T>A | CA374264820 | ALDOB | c.694A>T (p.Asn232Tyr) | |
| 9 | g.101425558T>C | CA196956813 | ALDOB | c.694A>G (p.Asn232Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425558T>G | CA374264819 | ALDOB | c.694A>C (p.Asn232His) | COSMIC |
| 9 | g.101425558T= | CA1868279127 | ALDOB | c.694A= (p.Asn232=) | |
| 9 | g.101425559G>A | CA466462047 | ALDOB | c.693C>T (p.Pro231=) | |
| 9 | g.101425559G>C | CA466462050 | ALDOB | c.693C>G (p.Pro231=) | |
| 9 | g.101425559G= | CA1868279128 | ALDOB | c.693C= (p.Pro231=) | |
| 9 | g.101425559G>T | CA466462048 | ALDOB | c.693C>A (p.Pro231=) | dbSNP |
| 9 | g.101425561del | CA2691007162 | ALDOB | c.693del (p.Asn232ThrfsTer3) | gnomAD v4 |
| 9 | g.101425560G>A | CA374264821 | ALDOB | c.692C>T (p.Pro231Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101425560G>C | CA374264822 | ALDOB | c.692C>G (p.Pro231Arg) | |
| 9 | g.101425560G= | CA1868279129 | ALDOB | c.692C= (p.Pro231=) | |
| 9 | g.101425560G>T | CA374264823 | ALDOB | c.692C>A (p.Pro231His) | |
| 9 | g.101425560_101425561insTTCAGAA | CA2520528732 | ALDOB | c.691_692insTTCTGAA (p.Pro231LeufsTer?) |