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 (n.799+20C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425433G= | CA1868278986 | ALDOB | c.799+20C= (n.799+20C=) | |
9 | g.101425434A= | CA1868278988 | ALDOB | c.799+19T= (n.799+19T=) | |
9 | g.101425434A>G | CA2579403644 | ALDOB | c.799+19T>C (n.799+19T>C) | |
9 | g.101425434A>T | CA5161472 | ALDOB | c.799+19T>A (n.799+19T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425436A= | CA1868278991 | ALDOB | c.799+17T= (n.799+17T=) | |
9 | g.101425436A>G | CA1868278992 | ALDOB | c.799+17T>C (n.799+17T>C) | dbSNP gnomAD v4 |
9 | g.101425437A>G | CA2691007155 | ALDOB | c.799+16T>C (n.799+16T>C) | gnomAD v4 |
9 | g.101425439A>C | CA2579403645 | ALDOB | c.799+14T>G (n.799+14T>G) | |
9 | g.101425439A>G | CA2579403646 | ALDOB | c.799+14T>C (n.799+14T>C) | |
9 | g.101425443_101425445dup | CA2691007156 | ALDOB | c.799+11_799+13dup (n.799+11_799+13dup) | gnomAD v4 |
9 | g.101425441A>T | CA2691007157 | ALDOB | c.799+12T>A (n.799+12T>A) | gnomAD v4 |
9 | g.101425442G>A | CA5161473 | ALDOB | c.799+11C>T (n.799+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425442G>C | CA2691007158 | ALDOB | c.799+11C>G (n.799+11C>G) | gnomAD v4 |
9 | g.101425442G= | CA1868278995 | ALDOB | c.799+11C= (n.799+11C=) | |
9 | g.101425443A= | CA1868278998 | ALDOB | c.799+10T= (n.799+10T=) | |
9 | g.101425443A>G | CA1127396849 | ALDOB | c.799+10T>C (n.799+10T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425444dup | CA590045510 | ALDOB | c.799+10dup (n.799+10dup) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425444A>C | CA2691007159 | ALDOB | c.799+9T>G (n.799+9T>G) | gnomAD v4 |
9 | g.101425445G>A | CA2691007160 | ALDOB | c.799+8C>T (n.799+8C>T) | gnomAD v4 |
9 | g.101425446G>A | CA590045511 | ALDOB | c.799+7C>T (n.799+7C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425446G= | CA1868279000 | ALDOB | c.799+7C= (n.799+7C=) | |
9 | g.101425447C= | CA1868279002 | ALDOB | c.799+6G= (n.799+6G=) | |
9 | g.101425447C>T | CA5161474 | ALDOB | c.799+6G>A (n.799+6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425448C= | CA1868279005 | ALDOB | c.799+5G= (n.799+5G=) | |
9 | g.101425448C>T | CA196956743 | ALDOB | c.799+5G>A (n.799+5G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
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) | 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=) |