| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.101425219_101426793del | CA2499219516 | ALDOB | c.541-153_800-175del | ClinVar |
| 9 | g.101425529G>A | CA466462020 | ALDOB | c.723C>T (p.Thr241=) | dbSNP gnomAD v4 |
| 9 | g.101425529G>C | CA5161491 | ALDOB | c.723C>G (p.Thr241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.101425529G= | CA1868279103 | ALDOB | c.723C= (p.Thr241=) | |
| 9 | g.101425529G>T | CA466462021 | ALDOB | c.723C>A (p.Thr241=) | |
| 9 | g.101425530G>A | CA5161493 | ALDOB | c.722C>T (p.Thr241Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.101425530G>C | CA374264762 | ALDOB | c.722C>G (p.Thr241Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.101425530G= | CA1868279106 | ALDOB | c.722C= (p.Thr241=) | |
| 9 | g.101425530G>T | CA5161492 | ALDOB | c.722C>A (p.Thr241Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425531T>A | CA374264763 | ALDOB | c.721A>T (p.Thr241Ser) | |
| 9 | g.101425531T>C | CA374264764 | ALDOB | c.721A>G (p.Thr241Ala) | |
| 9 | g.101425531T>G | CA374264765 | ALDOB | c.721A>C (p.Thr241Pro) | dbSNP |
| 9 | g.101425531T= | CA1868279108 | ALDOB | c.721A= (p.Thr241=) | |
| 9 | g.101425532G>A | CA466462022 | ALDOB | c.720C>T (p.Cys240=) | gnomAD v4 |
| 9 | g.101425532G>C | CA374264766 | ALDOB | c.720C>G (p.Cys240Trp) | |
| 9 | g.101425532G= | CA1868279111 | ALDOB | c.720C= (p.Cys240=) | |
| 9 | g.101425532G>T | CA114308 | ALDOB | c.720C>A (p.Cys240Ter) | ClinVar dbSNP |
| 9 | g.101425533C>A | CA374264767 | ALDOB | c.719G>T (p.Cys240Phe) | |
| 9 | g.101425533C>G | CA374264768 | ALDOB | c.719G>C (p.Cys240Ser) | |
| 9 | g.101425533C>T | CA374264769 | ALDOB | c.719G>A (p.Cys240Tyr) | |
| 9 | g.101425534A= | CA1868279112 | ALDOB | c.718T= (p.Cys240=) | |
| 9 | g.101425534A>C | CA374264770 | ALDOB | c.718T>G (p.Cys240Gly) | |
| 9 | g.101425534A>G | CA374264771 | ALDOB | c.718T>C (p.Cys240Arg) | dbSNP gnomAD v4 |
| 9 | g.101425534A>T | CA374264772 | ALDOB | c.718T>A (p.Cys240Ser) | |
| 9 | g.101425535G>A | CA5161494 | ALDOB | c.717C>T (p.Ala239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.101425535G>C | CA466462023 | ALDOB | c.717C>G (p.Ala239=) | |
| 9 | g.101425535G= | CA1868279113 | ALDOB | c.717C= (p.Ala239=) | |
| 9 | g.101425535G>T | CA466462024 | ALDOB | c.717C>A (p.Ala239=) | |
| 9 | g.101425536G>A | CA374264773 | ALDOB | c.716C>T (p.Ala239Val) | |
| 9 | g.101425536G>C | CA374264774 | ALDOB | c.716C>G (p.Ala239Gly) | |
| 9 | g.101425536G= | CA1868279114 | ALDOB | c.716C= (p.Ala239=) | |
| 9 | g.101425536G>T | CA196956798 | ALDOB | c.716C>A (p.Ala239Asp) | dbSNP |
| 9 | g.101425537C>A | CA5161495 | ALDOB | c.715G>T (p.Ala239Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.101425537C= | CA1868279115 | ALDOB | c.715G= (p.Ala239=) | |
| 9 | g.101425537C>G | CA374264775 | ALDOB | c.715G>C (p.Ala239Pro) | gnomAD v4 |
| 9 | g.101425537C>T | CA196956802 | ALDOB | c.715G>A (p.Ala239Thr) | dbSNP |
| 9 | g.101425538A= | CA1868279116 | ALDOB | c.714T= (p.His238=) | |
| 9 | g.101425538A>C | CA374264776 | ALDOB | c.714T>G (p.His238Gln) | |
| 9 | g.101425538A>G | CA196956804 | ALDOB | c.714T>C (p.His238=) | dbSNP gnomAD v4 |
| 9 | g.101425538A>T | CA374264777 | ALDOB | c.714T>A (p.His238Gln) | gnomAD v4 |
| 9 | g.101425539T>A | CA374264778 | ALDOB | c.713A>T (p.His238Leu) | |
| 9 | g.101425539T>C | CA374264779 | ALDOB | c.713A>G (p.His238Arg) | |
| 9 | g.101425539T>G | CA196956806 | ALDOB | c.713A>C (p.His238Pro) | dbSNP gnomAD v4 |
| 9 | g.101425539T= | CA1868279117 | ALDOB | c.713A= (p.His238=) | |
| 9 | g.101425539dup | CA913142081 | ALDOB | c.713dup (p.His238GlnfsTer?) | |
| 9 | g.101425540G>A | CA374264780 | ALDOB | c.712C>T (p.His238Tyr) | |
| 9 | g.101425540G>C | CA374264781 | ALDOB | c.712C>G (p.His238Asp) | |
| 9 | g.101425540G>T | CA374264782 | ALDOB | c.712C>A (p.His238Asn) | |
| 9 | g.101425540dup | CA658821562 | ALDOB | c.712dup (p.His238ProfsTer?) | ClinVar dbSNP |
| 9 | g.101425541T>A | CA466462025 | ALDOB | c.711A>T (p.Gly237=) |