| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101426493_101432940del | CA129578 | ALDOB | c.-10-2043_624+62del | ClinVar |
| 9 | g.101428468C>A | CA5161643 | ALDOB | c.379+1G>T (n.379+1G>T) n.67+1341G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101428468C= | CA1868280499 | ALDOB | c.379+1G= (n.379+1G=) n.67+1341G= | |
| 9 | g.101428468C>G | CA374265494 | ALDOB | c.379+1G>C (n.379+1G>C) n.67+1341G>C | |
| 9 | g.101428468C>T | CA16041287 | ALDOB | c.379+1G>A (n.379+1G>A) n.67+1341G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101428469C>A | CA374265495 | ALDOB | c.379G>T (p.Gly127Trp) n.67+1340G>T | |
| 9 | g.101428469C>G | CA374265496 | ALDOB | c.379G>C (p.Gly127Arg) n.67+1340G>C | |
| 9 | g.101428469C>T | CA374265497 | ALDOB | c.379G>A (p.Gly127Arg) n.67+1340G>A | |
| 9 | g.101428470T>A | CA374265498 | ALDOB | c.378A>T (p.Gln126His) n.67+1339A>T | |
| 9 | g.101428470T>C | CA466462947 | ALDOB | c.378A>G (p.Gln126=) n.67+1339A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.101428470T>G | CA374265499 | ALDOB | c.378A>C (p.Gln126His) n.67+1339A>C | |
| 9 | g.101428470T= | CA1868280500 | ALDOB | c.378A= (p.Gln126=) n.67+1339A= | |
| 9 | g.101428471T>A | CA374265500 | ALDOB | c.377A>T (p.Gln126Leu) n.67+1338A>T | |
| 9 | g.101428471T>C | CA374265501 | ALDOB | c.377A>G (p.Gln126Arg) n.67+1338A>G | |
| 9 | g.101428471T>G | CA374265502 | ALDOB | c.377A>C (p.Gln126Pro) n.67+1338A>C | |
| 9 | g.101428472G>A | CA374265503 | ALDOB | c.376C>T (p.Gln126Ter) n.67+1337C>T | |
| 9 | g.101428472G>C | CA374265504 | ALDOB | c.376C>G (p.Gln126Glu) n.67+1337C>G | |
| 9 | g.101428472G>T | CA374265505 | ALDOB | c.376C>A (p.Gln126Lys) n.67+1337C>A | |
| 9 | g.101428473A= | CA1868280501 | ALDOB | c.375T= (p.Ile125=) n.67+1336T= | |
| 9 | g.101428473A>C | CA374265506 | ALDOB | c.375T>G (p.Ile125Met) n.67+1336T>G | |
| 9 | g.101428473A>G | CA10631893 | ALDOB | c.375T>C (p.Ile125=) n.67+1336T>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.101428473A>T | CA466462948 | ALDOB | c.375T>A (p.Ile125=) n.67+1336T>A | |
| 9 | g.101428474A>C | CA374265509 | ALDOB | c.374T>G (p.Ile125Ser) n.67+1335T>G | |
| 9 | g.101428474A>G | CA374265507 | ALDOB | c.374T>C (p.Ile125Thr) n.67+1335T>C | |
| 9 | g.101428474A>T | CA374265508 | ALDOB | c.374T>A (p.Ile125Asn) n.67+1335T>A | gnomAD v4 |
| 9 | g.101428475T>A | CA374265510 | ALDOB | c.373A>T (p.Ile125Phe) n.67+1334A>T | |
| 9 | g.101428475T>C | CA374265511 | ALDOB | c.373A>G (p.Ile125Val) n.67+1334A>G | gnomAD v4 |
| 9 | g.101428475T>G | CA374265512 | ALDOB | c.373A>C (p.Ile125Leu) n.67+1334A>C | |
| 9 | g.101428476G>A | CA466462949 | ALDOB | c.372C>T (p.Thr124=) n.67+1333C>T | |
| 9 | g.101428476G>C | CA466462950 | ALDOB | c.372C>G (p.Thr124=) n.67+1333C>G | ClinVar |
| 9 | g.101428476G>T | CA466462951 | ALDOB | c.372C>A (p.Thr124=) n.67+1333C>A | |
| 9 | g.101428478_101428505del | CA2499219520 | ALDOB | c.345_372del (p.Leu116PhefsTer28) n.67+1306_67+1333del | ClinVar dbSNP |
| 9 | g.101428477G>A | CA374265513 | ALDOB | c.371C>T (p.Thr124Ile) n.67+1332C>T | |
| 9 | g.101428477G>C | CA374265514 | ALDOB | c.371C>G (p.Thr124Ser) n.67+1332C>G | |
| 9 | g.101428477G>T | CA374265515 | ALDOB | c.371C>A (p.Thr124Asn) n.67+1332C>A | |
| 9 | g.101428478T>A | CA374265516 | ALDOB | c.370A>T (p.Thr124Ser) n.67+1331A>T | |
| 9 | g.101428478T>C | CA374265517 | ALDOB | c.370A>G (p.Thr124Ala) n.67+1331A>G | dbSNP |
| 9 | g.101428478T>G | CA374265518 | ALDOB | c.370A>C (p.Thr124Pro) n.67+1331A>C | |
| 9 | g.101428478T= | CA1868280502 | ALDOB | c.370A= (p.Thr124=) n.67+1331A= | |
| 9 | g.101428479G>A | CA466462952 | ALDOB | c.369C>T (p.Thr123=) n.67+1330C>T | |
| 9 | g.101428479G>C | CA466462953 | ALDOB | c.369C>G (p.Thr123=) n.67+1330C>G | |
| 9 | g.101428479G= | CA1868280503 | ALDOB | c.369C= (p.Thr123=) n.67+1330C= | |
| 9 | g.101428479G>T | CA5161644 | ALDOB | c.369C>A (p.Thr123=) n.67+1330C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101428480G>A | CA374265519 | ALDOB | c.368C>T (p.Thr123Ile) n.67+1329C>T | |
| 9 | g.101428480G>C | CA374265520 | ALDOB | c.368C>G (p.Thr123Ser) n.67+1329C>G | |
| 9 | g.101428480G>T | CA374265521 | ALDOB | c.368C>A (p.Thr123Asn) n.67+1329C>A | |
| 9 | g.101428481T>A | CA374265523 | ALDOB | c.367A>T (p.Thr123Ser) n.67+1328A>T | |
| 9 | g.101428481T>C | CA374265524 | ALDOB | c.367A>G (p.Thr123Ala) n.67+1328A>G | |
| 9 | g.101428481T>G | CA374265522 | ALDOB | c.367A>C (p.Thr123Pro) n.67+1328A>C | |
| 9 | g.101428482T>A | CA374265525 | ALDOB | c.366A>T (p.Glu122Asp) n.67+1327A>T |