| 9 | g.101425044_101425453del | CA3047147085 | ALDOB | c.799+2_800del
| |
| 9 | g.101425432A>T | CA2961187288 | ALDOB | c.799+21T>A (n.799+21T>A)
| |
| 9 | g.101425435_101425436del | CA2961187287 | ALDOB | c.799+20_799+21del (n.799+20_799+21del)
| |
| 9 | g.101425433G>A | CA2961187290 | ALDOB | c.799+20C>T (n.799+20C>T)
| |
| 9 | g.101425433G>C | CA5161471 | ALDOB | c.799+20C>G (n.799+20C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425433G= | CA1868278986 | ALDOB | c.799+20C= (n.799+20C=)
| |
| 9 | g.101425433G>T | CA2961187289 | ALDOB | c.799+20C>A (n.799+20C>A)
| |
| 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)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425435G>T | CA2961187291 | ALDOB | c.799+18C>A (n.799+18C>A)
| |
| 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)
| ClinVar dbSNP gnomAD v4 |
| 9 | g.101425437A>G | CA2691007155 | ALDOB | c.799+16T>C (n.799+16T>C)
| ClinVar gnomAD v4 |
| 9 | g.101425437A>T | CA2961187292 | ALDOB | c.799+16T>A (n.799+16T>A)
| |
| 9 | g.101425438G>T | CA2961187293 | ALDOB | c.799+15C>A (n.799+15C>A)
| |
| 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.101425439A>T | CA2785321936 | ALDOB | c.799+14T>A (n.799+14T>A)
| |
| 9 | g.101425441dup | CA2961187294 | ALDOB | c.799+14dup (n.799+14dup)
| |
| 9 | g.101425443_101425445dup | CA2691007156 | ALDOB | c.799+11_799+13dup (n.799+11_799+13dup)
| ClinVar 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)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101425446G= | CA1868279000 | ALDOB | c.799+7C= (n.799+7C=)
| |
| 9 | g.101425446G>T | CA2961187295 | ALDOB | c.799+7C>A (n.799+7C>A)
| |
| 9 | g.101425447C>A | CA2961187297 | ALDOB | c.799+6G>T (n.799+6G>T)
| |
| 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.101425448dup | CA2961187296 | ALDOB | c.799+6dup (n.799+6dup)
| |
| 9 | g.101425448C>A | CA2961187298 | ALDOB | c.799+5G>T (n.799+5G>T)
| |
| 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)
| 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)
| |
