| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101425219_101426793del | CA2499219516 | ALDOB | c.541-153_800-175del | ClinVar |
| 9 | g.101425451A>C | CA374264606 | ALDOB | c.799+2T>G (n.799+2T>G) | |
| 9 | g.101425451A>G | CA374264607 | ALDOB | c.799+2T>C (n.799+2T>C) | ClinVar gnomAD v4 |
| 9 | g.101425451A>T | CA374264608 | ALDOB | c.799+2T>A (n.799+2T>A) | ClinVar dbSNP |
| 9 | g.101425452C>A | CA374264609 | ALDOB | c.799+1G>T (n.799+1G>T) | |
| 9 | g.101425452C>G | CA374264610 | ALDOB | c.799+1G>C (n.799+1G>C) | gnomAD v4 |
| 9 | g.101425452C>T | CA374264611 | ALDOB | c.799+1G>A (n.799+1G>A) | ClinVar |
| 9 | g.101425453C>A | CA374264613 | ALDOB | c.799G>T (p.Gly267Cys) | |
| 9 | g.101425453C= | CA1868279008 | ALDOB | c.799G= (p.Gly267=) | |
| 9 | g.101425453C>G | CA5161475 | ALDOB | c.799G>C (p.Gly267Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425453C>T | CA374264612 | ALDOB | c.799G>A (p.Gly267Ser) | |
| 9 | g.101425462_101425473dup | CA2720258646 | ALDOB | c.788_799dup (p.Pro266_Gly267insAlaAlaValPro) | dbSNP |
| 9 | g.101425454A>C | CA466461967 | ALDOB | c.798T>G (p.Pro266=) | |
| 9 | g.101425454A>G | CA466461969 | ALDOB | c.798T>C (p.Pro266=) | |
| 9 | g.101425454A>T | CA466461968 | ALDOB | c.798T>A (p.Pro266=) | gnomAD v4 |
| 9 | g.101425455G>A | CA196956747 | ALDOB | c.797C>T (p.Pro266Leu) | dbSNP gnomAD v4 |
| 9 | g.101425455G>C | CA374264614 | ALDOB | c.797C>G (p.Pro266Arg) | |
| 9 | g.101425455G= | CA1868279010 | ALDOB | c.797C= (p.Pro266=) | |
| 9 | g.101425455G>T | CA374264615 | ALDOB | c.797C>A (p.Pro266His) | |
| 9 | g.101425456del | CA2720258730 | ALDOB | c.797del (p.Pro266LeufsTer10) | dbSNP |
| 9 | g.101425456G>A | CA374264616 | ALDOB | c.796C>T (p.Pro266Ser) | |
| 9 | g.101425456G>C | CA374264617 | ALDOB | c.796C>G (p.Pro266Ala) | |
| 9 | g.101425456G>T | CA374264618 | ALDOB | c.796C>A (p.Pro266Thr) | |
| 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 |