Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.101421884T>A | CA374264096 | ALDOB | c.1020A>T (p.Lys340Asn) c.*32A>T (n.*32A>T) | |
9 | g.101421884T>C | CA466461840 | ALDOB | c.1020A>G (p.Lys340=) c.*32A>G (n.*32A>G) | |
9 | g.101421884T>G | CA374264097 | ALDOB | c.1020A>C (p.Lys340Asn) c.*32A>C (n.*32A>C) | |
9 | g.101421885T>A | CA374264098 | ALDOB | c.1019A>T (p.Lys340Ile) c.*31A>T (n.*31A>T) | dbSNP |
9 | g.101421885T>C | CA374264099 | ALDOB | c.1019A>G (p.Lys340Arg) c.*31A>G (n.*31A>G) | |
9 | g.101421885T>G | CA374264100 | ALDOB | c.1019A>C (p.Lys340Thr) c.*31A>C (n.*31A>C) | gnomAD v4 |
9 | g.101421885T= | CA1868275713 | ALDOB | c.1019A= (p.Lys340=) c.*31A= (n.*31A=) | |
9 | g.101421886T>A | CA374264101 | ALDOB | c.1018A>T (p.Lys340Ter) c.*30A>T (n.*30A>T) | |
9 | g.101421886T>C | CA374264102 | ALDOB | c.1018A>G (p.Lys340Glu) c.*30A>G (n.*30A>G) | |
9 | g.101421886T>G | CA374264103 | ALDOB | c.1018A>C (p.Lys340Gln) c.*30A>C (n.*30A>C) | dbSNP |
9 | g.101421886T= | CA1868275717 | ALDOB | c.1018A= (p.Lys340=) c.*30A= (n.*30A=) | |
9 | g.101421887G>A | CA466461841 | ALDOB | c.1017C>T (p.Ala339=) c.*29C>T (n.*29C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101421887G>C | CA466461842 | ALDOB | c.1017C>G (p.Ala339=) c.*29C>G (n.*29C>G) | |
9 | g.101421887G= | CA1868275719 | ALDOB | c.1017C= (p.Ala339=) c.*29C= (n.*29C=) | |
9 | g.101421887G>T | CA466461843 | ALDOB | c.1017C>A (p.Ala339=) c.*29C>A (n.*29C>A) | |
9 | g.101421888G>A | CA374264106 | ALDOB | c.1016C>T (p.Ala339Val) c.*28C>T (n.*28C>T) | |
9 | g.101421888G>C | CA374264105 | ALDOB | c.1016C>G (p.Ala339Gly) c.*28C>G (n.*28C>G) | |
9 | g.101421888G>T | CA374264104 | ALDOB | c.1016C>A (p.Ala339Asp) c.*28C>A (n.*28C>A) | |
9 | g.101421889C>A | CA374264107 | ALDOB | c.1015G>T (p.Ala339Ser) c.*27G>T (n.*27G>T) | |
9 | g.101421889C>G | CA374264108 | ALDOB | c.1015G>C (p.Ala339Pro) c.*27G>C (n.*27G>C) | |
9 | g.101421889C>T | CA374264109 | ALDOB | c.1015G>A (p.Ala339Thr) c.*27G>A (n.*27G>A) | gnomAD v4 |
9 | g.101421890C>A | CA466461844 | ALDOB | c.1014G>T (p.Ala338=) c.*26G>T (n.*26G>T) | |
9 | g.101421890C= | CA1868275724 | ALDOB | c.1014G= (p.Ala338=) c.*26G= (n.*26G=) | |
9 | g.101421890C>G | CA466461845 | ALDOB | c.1014G>C (p.Ala338=) c.*26G>C (n.*26G>C) | |
9 | g.101421890C>T | CA5161398 | ALDOB | c.1014G>A (p.Ala338=) c.*26G>A (n.*26G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101421891G>A | CA199050 | ALDOB | c.1013C>T (p.Ala338Val) c.*25C>T (n.*25C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.101421891G>C | CA5161399 | ALDOB | c.1013C>G (p.Ala338Gly) c.*25C>G (n.*25C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101421891G= | CA1868275732 | ALDOB | c.1013C= (p.Ala338=) c.*25C= (n.*25C=) | |
9 | g.101421891G>T | CA374264110 | ALDOB | c.1013C>A (p.Ala338Glu) c.*25C>A (n.*25C>A) | dbSNP gnomAD v4 |
9 | g.101421892C>A | CA374264111 | ALDOB | c.1012G>T (p.Ala338Ser) c.*24G>T (n.*24G>T) | COSMIC |
9 | g.101421892C>G | CA374264112 | ALDOB | c.1012G>C (p.Ala338Pro) c.*24G>C (n.*24G>C) | |
9 | g.101421892C>T | CA374264113 | ALDOB | c.1012G>A (p.Ala338Thr) c.*24G>A (n.*24G>A) | gnomAD v4 |
9 | g.101421893C>A | CA374264114 | ALDOB | c.1011G>T (p.Gln337His) c.*23G>T (n.*23G>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.101421893C= | CA1868275737 | ALDOB | c.1011G= (p.Gln337=) c.*23G= (n.*23G=) | |
9 | g.101421893C>G | CA374264115 | ALDOB | c.1011G>C (p.Gln337His) c.*23G>C (n.*23G>C) | |
9 | g.101421893C>T | CA5161400 | ALDOB | c.1011G>A (p.Gln337=) c.*23G>A (n.*23G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.101421894T>A | CA374264116 | ALDOB | c.1010A>T (p.Gln337Leu) c.*22A>T (n.*22A>T) | |
9 | g.101421894T>C | CA374264118 | ALDOB | c.1010A>G (p.Gln337Arg) c.*22A>G (n.*22A>G) | |
9 | g.101421894T>G | CA374264117 | ALDOB | c.1010A>C (p.Gln337Pro) c.*22A>C (n.*22A>C) | |
9 | g.101421895G>A | CA374264119 | ALDOB | c.1009C>T (p.Gln337Ter) c.*21C>T (n.*21C>T) | |
9 | g.101421895G>C | CA374264120 | ALDOB | c.1009C>G (p.Gln337Glu) c.*21C>G (n.*21C>G) | |
9 | g.101421895G>T | CA374264121 | ALDOB | c.1009C>A (p.Gln337Lys) c.*21C>A (n.*21C>A) | |
9 | g.101421895_101421897delinsGGC | CA1868275744 | ALDOB | c.1007_1009delinsGCC (p.Cys336=) c.*19_*21delinsGCC (n.*19_*21delinsGCC) | |
9 | g.101421896G>A | CA466461846 | ALDOB | c.1008C>T (p.Cys336=) c.*20C>T (n.*20C>T) | ClinVar |
9 | g.101421896G>C | CA374264122 | ALDOB | c.1008C>G (p.Cys336Trp) c.*20C>G (n.*20C>G) | |
9 | g.101421896G>T | CA374264123 | ALDOB | c.1008C>A (p.Cys336Ter) c.*20C>A (n.*20C>A) | |
9 | g.101421896_101421897delinsA | CA1139661093 | ALDOB | c.1007_1008delinsT (p.Cys336PhefsTer?) c.*19_*20delinsT (n.*19_*20delinsT) | ClinVar dbSNP |
9 | g.101421897C>A | CA374264124 | ALDOB | c.1007G>T (p.Cys336Phe) c.*19G>T (n.*19G>T) | |
9 | g.101421897C>G | CA374264125 | ALDOB | c.1007G>C (p.Cys336Ser) c.*19G>C (n.*19G>C) | |
9 | g.101421897C>T | CA374264126 | ALDOB | c.1007G>A (p.Cys336Tyr) c.*19G>A (n.*19G>A) |