| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101425219_101426793del | CA2499219516 | ALDOB | c.541-153_800-175del | ClinVar |
| 9 | g.101425433G>C | CA5161471 | ALDOB | c.799+20C>G (p.=) | dbSNP ExAC gnomAD |
| 9 | g.101425433G= | CA1868278986 | ALDOB | c.799+20C= (p.=) | |
| 9 | g.101425434A= | CA1868278988 | ALDOB | c.799+19T= (p.=) | |
| 9 | g.101425434A>T | CA5161472 | ALDOB | c.799+19T>A (p.=) | dbSNP ExAC gnomAD |
| 9 | g.101425436A= | CA1868278991 | ALDOB | c.799+17T= (p.=) | |
| 9 | g.101425436A>G | CA1868278992 | ALDOB | c.799+17T>C (p.=) | |
| 9 | g.101425442G>A | CA5161473 | ALDOB | c.799+11C>T (p.=) | ClinVar dbSNP ExAC gnomAD |
| 9 | g.101425442G= | CA1868278995 | ALDOB | c.799+11C= (p.=) | |
| 9 | g.101425443A= | CA1868278998 | ALDOB | c.799+10T= (p.=) | |
| 9 | g.101425443A>G | CA1127396849 | ALDOB | c.799+10T>C (p.=) | |
| 9 | g.101425444dup | CA590045510 | ALDOB | c.799+10dup (p.=) | dbSNP gnomAD |
| 9 | g.101425446G>A | CA590045511 | ALDOB | c.799+7C>T (p.=) | gnomAD |
| 9 | g.101425446G= | CA1868279000 | ALDOB | c.799+7C= (p.=) | |
| 9 | g.101425447C= | CA1868279002 | ALDOB | c.799+6G= (p.=) | |
| 9 | g.101425447C>T | CA5161474 | ALDOB | c.799+6G>A (p.=) | ClinVar dbSNP ExAC gnomAD |
| 9 | g.101425448C= | CA1868279005 | ALDOB | c.799+5G= (p.=) | |
| 9 | g.101425448C>T | CA196956743 | ALDOB | c.799+5G>A (p.=) | ClinVar dbSNP |
| 9 | g.101425451A>C | CA374264606 | ALDOB | c.799+2T>G (p.=) | |
| 9 | g.101425451A>G | CA374264607 | ALDOB | c.799+2T>C (p.=) | |
| 9 | g.101425451A>T | CA374264608 | ALDOB | c.799+2T>A (p.=) | ClinVar |
| 9 | g.101425452C>A | CA374264609 | ALDOB | c.799+1G>T (p.=) | |
| 9 | g.101425452C>G | CA374264610 | ALDOB | c.799+1G>C (p.=) | |
| 9 | g.101425452C>T | CA374264611 | ALDOB | c.799+1G>A (p.=) | |
| 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 |
| 9 | g.101425453C>T | CA374264612 | ALDOB | c.799G>A (p.Gly267Ser) | |
| 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=) | |
| 9 | g.101425455G>A | CA196956747 | ALDOB | c.797C>T (p.Pro266Leu) | dbSNP |
| 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.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=) | gnomAD |
| 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) | |
| 9 | g.101425458A>T | CA374264619 | ALDOB | c.794T>A (p.Val265Asp) | |
| 9 | g.101425459C>A | CA374264622 | ALDOB | c.793G>T (p.Val265Phe) | |
| 9 | g.101425459C>G | CA374264623 | ALDOB | c.793G>C (p.Val265Leu) | |
| 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=) |