Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101425219_101426793del | CA2499219516 | ALDOB | c.541-153_800-175del | ClinVar |
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=) | |
9 | g.101425541T>C | CA466462026 | ALDOB | c.711A>G (p.Gly237=) | dbSNP |
9 | g.101425541T>G | CA466462027 | ALDOB | c.711A>C (p.Gly237=) | |
9 | g.101425541T= | CA1868279118 | ALDOB | c.711A= (p.Gly237=) | |
9 | g.101425542C>A | CA374264785 | ALDOB | c.710G>T (p.Gly237Val) | |
9 | g.101425542C= | CA1868279119 | ALDOB | c.710G= (p.Gly237=) | |
9 | g.101425542C>G | CA374264784 | ALDOB | c.710G>C (p.Gly237Ala) | gnomAD v4 |
9 | g.101425542C>T | CA374264783 | ALDOB | c.710G>A (p.Gly237Glu) | dbSNP gnomAD v4 |
9 | g.101425543C>A | CA374264786 | ALDOB | c.709G>T (p.Gly237Ter) | |
9 | g.101425543C>G | CA374264787 | ALDOB | c.709G>C (p.Gly237Arg) | |
9 | g.101425543C>T | CA374264788 | ALDOB | c.709G>A (p.Gly237Arg) | |
9 | g.101425544A= | CA1868279120 | ALDOB | c.708T= (p.Ala236=) | |
9 | g.101425544A>C | CA466462028 | ALDOB | c.708T>G (p.Ala236=) | |
9 | g.101425544A>G | CA5161496 | ALDOB | c.708T>C (p.Ala236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425544A>T | CA466462029 | ALDOB | c.708T>A (p.Ala236=) | |
9 | g.101425545G>A | CA374264789 | ALDOB | c.707C>T (p.Ala236Val) | |
9 | g.101425545G>C | CA374264790 | ALDOB | c.707C>G (p.Ala236Gly) | |
9 | g.101425545G>T | CA374264791 | ALDOB | c.707C>A (p.Ala236Asp) | dbSNP |
9 | g.101425546C>A | CA374264792 | ALDOB | c.706G>T (p.Ala236Ser) | dbSNP gnomAD v4 |
9 | g.101425546C= | CA1868279121 | ALDOB | c.706G= (p.Ala236=) | |
9 | g.101425546C>G | CA374264793 | ALDOB | c.706G>C (p.Ala236Pro) | |
9 | g.101425546C>T | CA5161497 | ALDOB | c.706G>A (p.Ala236Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425547A= | CA1868279122 | ALDOB | c.705T= (p.Thr235=) | |
9 | g.101425547A>C | CA466462032 | ALDOB | c.705T>G (p.Thr235=) | ClinVar gnomAD v4 |
9 | g.101425547A>G | CA466462030 | ALDOB | c.705T>C (p.Thr235=) | |
9 | g.101425547A>T | CA466462031 | ALDOB | c.705T>A (p.Thr235=) | dbSNP |
9 | g.101425547_101425548insCATTG | CA2500023601 | ALDOB | c.704_705insCAATG (p.Ala236AsnfsTer16) | |
9 | g.101425548G>A | CA374264794 | ALDOB | c.704C>T (p.Thr235Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |