Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101421809del | CA2691006412 | ALDOB | c.*2del (n.*2del) c.*109del (n.*109del) | gnomAD v4 |
9 | g.101421809C>A | CA374263943 | ALDOB | c.1095G>T (p.Ter365Tyr) c.*107G>T (n.*107G>T) | |
9 | g.101421809C= | CA1868275579 | ALDOB | c.1095G= (p.Ter365=) c.*107G= (n.*107G=) | |
9 | g.101421809C>G | CA196955796 | ALDOB | c.1095G>C (p.Ter365Tyr) c.*107G>C (n.*107G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101421809C>T | CA466461790 | ALDOB | c.1095G>A (p.Ter365=) c.*107G>A (n.*107G>A) | |
9 | g.101421810T>A | CA374263946 | ALDOB | c.1094A>T (p.Ter365Leu) c.*106A>T (n.*106A>T) | |
9 | g.101421810T>C | CA374263944 | ALDOB | c.1094A>G (p.Ter365Trp) c.*106A>G (n.*106A>G) | |
9 | g.101421810T>G | CA374263945 | ALDOB | c.1094A>C (p.Ter365Ser) c.*106A>C (n.*106A>C) | |
9 | g.101421811A>C | CA374263947 | ALDOB | c.1093T>G (p.Ter365Glu) c.*105T>G (n.*105T>G) | |
9 | g.101421811A>G | CA374263948 | ALDOB | c.1093T>C (p.Ter365Gln) c.*105T>C (n.*105T>C) | |
9 | g.101421811A>T | CA374263949 | ALDOB | c.1093T>A (p.Ter365Lys) c.*105T>A (n.*105T>A) | |
9 | g.101421813_101421833del | CA645547390 | ALDOB | c.1073_1093del (p.Phe358Ter) c.*85_*105del (n.*85_*105del) | COSMIC COSMIC |
9 | g.101421812G>A | CA466461791 | ALDOB | c.1092C>T (p.Tyr364=) c.*104C>T (n.*104C>T) | |
9 | g.101421812G>C | CA374263950 | ALDOB | c.1092C>G (p.Tyr364Ter) c.*104C>G (n.*104C>G) | |
9 | g.101421812G= | CA1868275584 | ALDOB | c.1092C= (p.Tyr364=) c.*104C= (n.*104C=) | |
9 | g.101421812G>T | CA374263951 | ALDOB | c.1092C>A (p.Tyr364Ter) c.*104C>A (n.*104C>A) | dbSNP |
9 | g.101421813T>A | CA374263952 | ALDOB | c.1091A>T (p.Tyr364Phe) c.*103A>T (n.*103A>T) | |
9 | g.101421813T>C | CA374263953 | ALDOB | c.1091A>G (p.Tyr364Cys) c.*103A>G (n.*103A>G) | gnomAD v4 COSMIC |
9 | g.101421813T>G | CA374263954 | ALDOB | c.1091A>C (p.Tyr364Ser) c.*103A>C (n.*103A>C) | |
9 | g.101421814A= | CA1868275587 | ALDOB | c.1090T= (p.Tyr364=) c.*102T= (n.*102T=) | |
9 | g.101421814A>C | CA374263955 | ALDOB | c.1090T>G (p.Tyr364Asp) c.*102T>G (n.*102T>G) | |
9 | g.101421814A>G | CA374263956 | ALDOB | c.1090T>C (p.Tyr364His) c.*102T>C (n.*102T>C) | gnomAD v4 |
9 | g.101421814A>T | CA5161381 | ALDOB | c.1090T>A (p.Tyr364Asn) c.*102T>A (n.*102T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101421815G>A | CA5161382 | ALDOB | c.1089C>T (p.Thr363=) c.*101C>T (n.*101C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.101421815G>C | CA466461792 | ALDOB | c.1089C>G (p.Thr363=) c.*101C>G (n.*101C>G) | ClinVar |
9 | g.101421815G= | CA1868275590 | ALDOB | c.1089C= (p.Thr363=) c.*101C= (n.*101C=) | |
9 | g.101421815G>T | CA466461793 | ALDOB | c.1089C>A (p.Thr363=) c.*101C>A (n.*101C>A) | |
9 | g.101421816G>A | CA374263957 | ALDOB | c.1088C>T (p.Thr363Ile) c.*100C>T (n.*100C>T) | gnomAD v4 |
9 | g.101421816G>C | CA374263959 | ALDOB | c.1088C>G (p.Thr363Ser) c.*100C>G (n.*100C>G) | |
9 | g.101421816G>T | CA374263958 | ALDOB | c.1088C>A (p.Thr363Asn) c.*100C>A (n.*100C>A) | |
9 | g.101421817T>A | CA374263960 | ALDOB | c.1087A>T (p.Thr363Ser) c.*99A>T (n.*99A>T) | |
9 | g.101421817T>C | CA374263962 | ALDOB | c.1087A>G (p.Thr363Ala) c.*99A>G (n.*99A>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.101421817T>G | CA374263961 | ALDOB | c.1087A>C (p.Thr363Pro) c.*99A>C (n.*99A>C) | |
9 | g.101421817T= | CA1868275592 | ALDOB | c.1087A= (p.Thr363=) c.*99A= (n.*99A=) | |
9 | g.101421818A>C | CA374263963 | ALDOB | c.1086T>G (p.Tyr362Ter) c.*98T>G (n.*98T>G) | |
9 | g.101421818A>G | CA466461794 | ALDOB | c.1086T>C (p.Tyr362=) c.*98T>C (n.*98T>C) | gnomAD v4 |
9 | g.101421818A>T | CA374263964 | ALDOB | c.1086T>A (p.Tyr362Ter) c.*98T>A (n.*98T>A) | |
9 | g.101421819T>A | CA374263965 | ALDOB | c.1085A>T (p.Tyr362Phe) c.*97A>T (n.*97A>T) | |
9 | g.101421819T>C | CA374263966 | ALDOB | c.1085A>G (p.Tyr362Cys) c.*97A>G (n.*97A>G) | |
9 | g.101421819T>G | CA374263967 | ALDOB | c.1085A>C (p.Tyr362Ser) c.*97A>C (n.*97A>C) | |
9 | g.101421820A= | CA1868275595 | ALDOB | c.1084T= (p.Tyr362=) c.*96T= (n.*96T=) | |
9 | g.101421820A>C | CA374263968 | ALDOB | c.1084T>G (p.Tyr362Asp) c.*96T>G (n.*96T>G) | |
9 | g.101421820A>G | CA5161383 | ALDOB | c.1084T>C (p.Tyr362His) c.*96T>C (n.*96T>C) | dbSNP ExAC gnomAD v4 |
9 | g.101421820A>T | CA374263969 | ALDOB | c.1084T>A (p.Tyr362Asn) c.*96T>A (n.*96T>A) | |
9 | g.101421821G>A | CA466461795 | ALDOB | c.1083C>T (p.Cys361=) c.*95C>T (n.*95C>T) | |
9 | g.101421821G>C | CA374263970 | ALDOB | c.1083C>G (p.Cys361Trp) c.*95C>G (n.*95C>G) | |
9 | g.101421821G>T | CA374263971 | ALDOB | c.1083C>A (p.Cys361Ter) c.*95C>A (n.*95C>A) | COSMIC |
9 | g.101421822C>A | CA374263972 | ALDOB | c.1082G>T (p.Cys361Phe) c.*94G>T (n.*94G>T) | |
9 | g.101421822C>G | CA374263973 | ALDOB | c.1082G>C (p.Cys361Ser) c.*94G>C (n.*94G>C) | |
9 | g.101421822C>T | CA374263974 | ALDOB | c.1082G>A (p.Cys361Tyr) c.*94G>A (n.*94G>A) |