Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101425219_101426793del | CA2499219516 | ALDOB | c.541-153_800-175del | ClinVar |
9 | g.101425552_101425553del | CA2525042984 | ALDOB | c.699_700del (p.Met233IlefsTer?) | |
9 | g.101425553dup | CA2691007161 | ALDOB | c.700dup (p.Val234GlyfsTer?) | gnomAD v4 |
9 | g.101425553C>A | CA374264806 | ALDOB | c.699G>T (p.Met233Ile) | |
9 | g.101425553C>G | CA374264807 | ALDOB | c.699G>C (p.Met233Ile) | |
9 | g.101425553C>T | CA374264808 | ALDOB | c.699G>A (p.Met233Ile) | |
9 | g.101425554A= | CA1868279125 | ALDOB | c.698T= (p.Met233=) | |
9 | g.101425554A>C | CA374264809 | ALDOB | c.698T>G (p.Met233Arg) | |
9 | g.101425554A>G | CA374264810 | ALDOB | c.698T>C (p.Met233Thr) | |
9 | g.101425554A>T | CA5161499 | ALDOB | c.698T>A (p.Met233Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425555T>A | CA374264813 | ALDOB | c.697A>T (p.Met233Leu) | |
9 | g.101425555T>C | CA374264811 | ALDOB | c.697A>G (p.Met233Val) | |
9 | g.101425555T>G | CA374264812 | ALDOB | c.697A>C (p.Met233Leu) | |
9 | g.101425556G>A | CA466462037 | ALDOB | c.696C>T (p.Asn232=) | gnomAD v4 COSMIC |
9 | g.101425556G>C | CA374264814 | ALDOB | c.696C>G (p.Asn232Lys) | |
9 | g.101425556G>T | CA374264815 | ALDOB | c.696C>A (p.Asn232Lys) | |
9 | g.101425556_101425557insAGGCCTGGAGA | CA2523850206 | ALDOB | c.695_696insTCTCCAGGCCT (p.Met233LeufsTer6) | |
9 | g.101425557T>A | CA374264816 | ALDOB | c.695A>T (p.Asn232Ile) | |
9 | g.101425557T>C | CA374264817 | ALDOB | c.695A>G (p.Asn232Ser) | dbSNP gnomAD v4 |
9 | g.101425557T>G | CA374264818 | ALDOB | c.695A>C (p.Asn232Thr) | gnomAD v4 |
9 | g.101425557T= | CA1868279126 | ALDOB | c.695A= (p.Asn232=) | |
9 | g.101425558T>A | CA374264820 | ALDOB | c.694A>T (p.Asn232Tyr) | |
9 | g.101425558T>C | CA196956813 | ALDOB | c.694A>G (p.Asn232Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.101425558T>G | CA374264819 | ALDOB | c.694A>C (p.Asn232His) | COSMIC |
9 | g.101425558T= | CA1868279127 | ALDOB | c.694A= (p.Asn232=) | |
9 | g.101425559G>A | CA466462047 | ALDOB | c.693C>T (p.Pro231=) | |
9 | g.101425559G>C | CA466462050 | ALDOB | c.693C>G (p.Pro231=) | |
9 | g.101425559G= | CA1868279128 | ALDOB | c.693C= (p.Pro231=) | |
9 | g.101425559G>T | CA466462048 | ALDOB | c.693C>A (p.Pro231=) | dbSNP |
9 | g.101425561del | CA2691007162 | ALDOB | c.693del (p.Asn232ThrfsTer3) | gnomAD v4 |
9 | g.101425560G>A | CA374264821 | ALDOB | c.692C>T (p.Pro231Leu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101425560G>C | CA374264822 | ALDOB | c.692C>G (p.Pro231Arg) | |
9 | g.101425560G= | CA1868279129 | ALDOB | c.692C= (p.Pro231=) | |
9 | g.101425560G>T | CA374264823 | ALDOB | c.692C>A (p.Pro231His) | |
9 | g.101425560_101425561insTTCAGAA | CA2520528732 | ALDOB | c.691_692insTTCTGAA (p.Pro231LeufsTer?) | |
9 | g.101425561G>A | CA374264824 | ALDOB | c.691C>T (p.Pro231Ser) n.218C>T | |
9 | g.101425561G>C | CA374264825 | ALDOB | c.691C>G (p.Pro231Ala) n.218C>G | |
9 | g.101425561G>T | CA374264826 | ALDOB | c.691C>A (p.Pro231Thr) n.218C>A | COSMIC |
9 | g.101425562C>A | CA374264827 | ALDOB | c.690G>T (p.Lys230Asn) n.217G>T | |
9 | g.101425562C= | CA1868279130 | ALDOB | c.690G= (p.Lys230=) n.217G= | |
9 | g.101425562C>G | CA374264828 | ALDOB | c.690G>C (p.Lys230Asn) n.217G>C | |
9 | g.101425562C>T | CA5161500 | ALDOB | c.690G>A (p.Lys230=) n.217G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101425563T>A | CA374264829 | ALDOB | c.689A>T (p.Lys230Met) n.216A>T | |
9 | g.101425563T>C | CA374264830 | ALDOB | c.689A>G (p.Lys230Arg) n.216A>G | |
9 | g.101425563T>G | CA374264831 | ALDOB | c.689A>C (p.Lys230Thr) n.216A>C | COSMIC |
9 | g.101425563T= | CA1868279131 | ALDOB | c.689A= (p.Lys230=) n.216A= | |
9 | g.101425565del | CA2499219518 | ALDOB | c.689del (p.Lys230SerfsTer5) n.216del | ClinVar dbSNP |
9 | g.101425564T>A | CA374264832 | ALDOB | c.688A>T (p.Lys230Ter) n.215A>T | |
9 | g.101425564T>C | CA5161501 | ALDOB | c.688A>G (p.Lys230Glu) n.215A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101425564T>G | CA374264833 | ALDOB | c.688A>C (p.Lys230Gln) n.215A>C |