| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.58010689T>A | CA490587258 | ALDH1A2 | c.453A>T (p.Ala151=) c.*427A>T (n.*427A>T) c.390A>T (p.Ala130=) c.366A>T (p.Ala122=) n.318+3169A>T c.165A>T (p.Ala55=) | |
| 15 | g.58010689T>C | CA7584087 | ALDH1A2 | c.453A>G (p.Ala151=) c.*427A>G (n.*427A>G) c.390A>G (p.Ala130=) c.366A>G (p.Ala122=) n.318+3169A>G c.165A>G (p.Ala55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010689T>G | CA490587259 | ALDH1A2 | c.453A>C (p.Ala151=) c.*427A>C (n.*427A>C) c.390A>C (p.Ala130=) c.366A>C (p.Ala122=) n.318+3169A>C c.165A>C (p.Ala55=) | |
| 15 | g.58010689T= | CA2180114068 | ALDH1A2 | c.453A= (p.Ala151=) c.*427A= (n.*427A=) c.390A= (p.Ala130=) c.366A= (p.Ala122=) n.318+3169A= c.165A= (p.Ala55=) | |
| 15 | g.58010690G>A | CA392790028 | ALDH1A2 | c.452C>T (p.Ala151Val) c.*426C>T (n.*426C>T) c.389C>T (p.Ala130Val) c.365C>T (p.Ala122Val) n.318+3168C>T c.164C>T (p.Ala55Val) | |
| 15 | g.58010690G>C | CA392790031 | ALDH1A2 | c.452C>G (p.Ala151Gly) c.*426C>G (n.*426C>G) c.389C>G (p.Ala130Gly) c.365C>G (p.Ala122Gly) n.318+3168C>G c.164C>G (p.Ala55Gly) | |
| 15 | g.58010690G>T | CA392790032 | ALDH1A2 | c.452C>A (p.Ala151Glu) c.*426C>A (n.*426C>A) c.389C>A (p.Ala130Glu) c.365C>A (p.Ala122Glu) n.318+3168C>A c.164C>A (p.Ala55Glu) | |
| 15 | g.58010691C>A | CA7584088 | ALDH1A2 | c.451G>T (p.Ala151Ser) c.*425G>T (n.*425G>T) c.388G>T (p.Ala130Ser) c.364G>T (p.Ala122Ser) n.318+3167G>T c.163G>T (p.Ala55Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010691C= | CA2180114074 | ALDH1A2 | c.451G= (p.Ala151=) c.*425G= (n.*425G=) c.388G= (p.Ala130=) c.364G= (p.Ala122=) n.318+3167G= c.163G= (p.Ala55=) | |
| 15 | g.58010691C>G | CA392790036 | ALDH1A2 | c.451G>C (p.Ala151Pro) c.*425G>C (n.*425G>C) c.388G>C (p.Ala130Pro) c.364G>C (p.Ala122Pro) n.318+3167G>C c.163G>C (p.Ala55Pro) | |
| 15 | g.58010691C>T | CA392790038 | ALDH1A2 | c.451G>A (p.Ala151Thr) c.*425G>A (n.*425G>A) c.388G>A (p.Ala130Thr) c.364G>A (p.Ala122Thr) n.318+3167G>A c.163G>A (p.Ala55Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.58010692G>A | CA7584089 | ALDH1A2 | c.450C>T (p.Tyr150=) c.*424C>T (n.*424C>T) c.387C>T (p.Tyr129=) c.363C>T (p.Tyr121=) n.318+3166C>T c.162C>T (p.Tyr54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010692G>C | CA392790043 | ALDH1A2 | c.450C>G (p.Tyr150Ter) c.*424C>G (n.*424C>G) c.387C>G (p.Tyr129Ter) c.363C>G (p.Tyr121Ter) n.318+3166C>G c.162C>G (p.Tyr54Ter) | |
| 15 | g.58010692G= | CA2180114076 | ALDH1A2 | c.450C= (p.Tyr150=) c.*424C= (n.*424C=) c.387C= (p.Tyr129=) c.363C= (p.Tyr121=) n.318+3166C= c.162C= (p.Tyr54=) | |
| 15 | g.58010692G>T | CA392790045 | ALDH1A2 | c.450C>A (p.Tyr150Ter) c.*424C>A (n.*424C>A) c.387C>A (p.Tyr129Ter) c.363C>A (p.Tyr121Ter) n.318+3166C>A c.162C>A (p.Tyr54Ter) | |
| 15 | g.58010693T>A | CA392790048 | ALDH1A2 | c.449A>T (p.Tyr150Phe) c.*423A>T (n.*423A>T) c.386A>T (p.Tyr129Phe) c.362A>T (p.Tyr121Phe) n.318+3165A>T c.161A>T (p.Tyr54Phe) | |
| 15 | g.58010693T>C | CA392790050 | ALDH1A2 | c.449A>G (p.Tyr150Cys) c.*423A>G (n.*423A>G) c.386A>G (p.Tyr129Cys) c.362A>G (p.Tyr121Cys) n.318+3165A>G c.161A>G (p.Tyr54Cys) | gnomAD v4 |
| 15 | g.58010693T>G | CA392790051 | ALDH1A2 | c.449A>C (p.Tyr150Ser) c.*423A>C (n.*423A>C) c.386A>C (p.Tyr129Ser) c.362A>C (p.Tyr121Ser) n.318+3165A>C c.161A>C (p.Tyr54Ser) | |
| 15 | g.58010694A>C | CA392790056 | ALDH1A2 | c.448T>G (p.Tyr150Asp) c.*422T>G (n.*422T>G) c.385T>G (p.Tyr129Asp) c.361T>G (p.Tyr121Asp) n.318+3164T>G c.160T>G (p.Tyr54Asp) | |
| 15 | g.58010694A>G | CA392790058 | ALDH1A2 | c.448T>C (p.Tyr150His) c.*422T>C (n.*422T>C) c.385T>C (p.Tyr129His) c.361T>C (p.Tyr121His) n.318+3164T>C c.160T>C (p.Tyr54His) | gnomAD v4 |
| 15 | g.58010694A>T | CA392790054 | ALDH1A2 | c.448T>A (p.Tyr150Asn) c.*422T>A (n.*422T>A) c.385T>A (p.Tyr129Asn) c.361T>A (p.Tyr121Asn) n.318+3164T>A c.160T>A (p.Tyr54Asn) | COSMIC |
| 15 | g.58010695A= | CA2180114082 | ALDH1A2 | c.447T= (p.Tyr149=) c.*421T= (n.*421T=) c.384T= (p.Tyr128=) c.360T= (p.Tyr120=) n.318+3163T= c.159T= (p.Tyr53=) | |
| 15 | g.58010695A>C | CA392790063 | ALDH1A2 | c.447T>G (p.Tyr149Ter) c.*421T>G (n.*421T>G) c.384T>G (p.Tyr128Ter) c.360T>G (p.Tyr120Ter) n.318+3163T>G c.159T>G (p.Tyr53Ter) | |
| 15 | g.58010695A>G | CA7584090 | ALDH1A2 | c.447T>C (p.Tyr149=) c.*421T>C (n.*421T>C) c.384T>C (p.Tyr128=) c.360T>C (p.Tyr120=) n.318+3163T>C c.159T>C (p.Tyr53=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.58010695A>T | CA392790067 | ALDH1A2 | c.447T>A (p.Tyr149Ter) c.*421T>A (n.*421T>A) c.384T>A (p.Tyr128Ter) c.360T>A (p.Tyr120Ter) n.318+3163T>A c.159T>A (p.Tyr53Ter) | |
| 15 | g.58010696T>A | CA392790070 | ALDH1A2 | c.446A>T (p.Tyr149Phe) c.*420A>T (n.*420A>T) c.383A>T (p.Tyr128Phe) c.359A>T (p.Tyr120Phe) n.318+3162A>T c.158A>T (p.Tyr53Phe) | |
| 15 | g.58010696T>C | CA7584091 | ALDH1A2 | c.446A>G (p.Tyr149Cys) c.*420A>G (n.*420A>G) c.383A>G (p.Tyr128Cys) c.359A>G (p.Tyr120Cys) n.318+3162A>G c.158A>G (p.Tyr53Cys) | dbSNP ExAC |
| 15 | g.58010696T>G | CA392790073 | ALDH1A2 | c.446A>C (p.Tyr149Ser) c.*420A>C (n.*420A>C) c.383A>C (p.Tyr128Ser) c.359A>C (p.Tyr120Ser) n.318+3162A>C c.158A>C (p.Tyr53Ser) | |
| 15 | g.58010696T= | CA2180114087 | ALDH1A2 | c.446A= (p.Tyr149=) c.*420A= (n.*420A=) c.383A= (p.Tyr128=) c.359A= (p.Tyr120=) n.318+3162A= c.158A= (p.Tyr53=) | |
| 15 | g.58010697A>C | CA392790075 | ALDH1A2 | c.445T>G (p.Tyr149Asp) c.*419T>G (n.*419T>G) c.382T>G (p.Tyr128Asp) c.358T>G (p.Tyr120Asp) n.318+3161T>G c.157T>G (p.Tyr53Asp) | |
| 15 | g.58010697A>G | CA392790077 | ALDH1A2 | c.445T>C (p.Tyr149His) c.*419T>C (n.*419T>C) c.382T>C (p.Tyr128His) c.358T>C (p.Tyr120His) n.318+3161T>C c.157T>C (p.Tyr53His) | |
| 15 | g.58010697A>T | CA392790080 | ALDH1A2 | c.445T>A (p.Tyr149Asn) c.*419T>A (n.*419T>A) c.382T>A (p.Tyr128Asn) c.358T>A (p.Tyr120Asn) n.318+3161T>A c.157T>A (p.Tyr53Asn) | |
| 15 | g.58010698T>A | CA490587261 | ALDH1A2 | c.444A>T (p.Arg148=) c.*418A>T (n.*418A>T) c.381A>T (p.Arg127=) c.357A>T (p.Arg119=) n.318+3160A>T c.156A>T (p.Arg52=) | |
| 15 | g.58010698T>C | CA271346382 | ALDH1A2 | c.444A>G (p.Arg148=) c.*418A>G (n.*418A>G) c.381A>G (p.Arg127=) c.357A>G (p.Arg119=) n.318+3160A>G c.156A>G (p.Arg52=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010698T>G | CA490587262 | ALDH1A2 | c.444A>C (p.Arg148=) c.*418A>C (n.*418A>C) c.381A>C (p.Arg127=) c.357A>C (p.Arg119=) n.318+3160A>C c.156A>C (p.Arg52=) | |
| 15 | g.58010698T= | CA2180114090 | ALDH1A2 | c.444A= (p.Arg148=) c.*418A= (n.*418A=) c.381A= (p.Arg127=) c.357A= (p.Arg119=) n.318+3160A= c.156A= (p.Arg52=) | |
| 15 | g.58010699C>A | CA392790082 | ALDH1A2 | c.443G>T (p.Arg148Leu) c.*417G>T (n.*417G>T) c.380G>T (p.Arg127Leu) c.356G>T (p.Arg119Leu) n.318+3159G>T c.155G>T (p.Arg52Leu) | gnomAD v4 |
| 15 | g.58010699C= | CA2180114095 | ALDH1A2 | c.443G= (p.Arg148=) c.*417G= (n.*417G=) c.380G= (p.Arg127=) c.356G= (p.Arg119=) n.318+3159G= c.155G= (p.Arg52=) | |
| 15 | g.58010699C>G | CA392790084 | ALDH1A2 | c.443G>C (p.Arg148Pro) c.*417G>C (n.*417G>C) c.380G>C (p.Arg127Pro) c.356G>C (p.Arg119Pro) n.318+3159G>C c.155G>C (p.Arg52Pro) | |
| 15 | g.58010699C>T | CA7584092 | ALDH1A2 | c.443G>A (p.Arg148Gln) c.*417G>A (n.*417G>A) c.380G>A (p.Arg127Gln) c.356G>A (p.Arg119Gln) n.318+3159G>A c.155G>A (p.Arg52Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.58010700G>A | CA392790088 | ALDH1A2 | c.442C>T (p.Arg148Ter) c.*416C>T (n.*416C>T) c.379C>T (p.Arg127Ter) c.355C>T (p.Arg119Ter) n.318+3158C>T c.154C>T (p.Arg52Ter) | gnomAD v4 COSMIC |
| 15 | g.58010700G>C | CA392790091 | ALDH1A2 | c.442C>G (p.Arg148Gly) c.*416C>G (n.*416C>G) c.379C>G (p.Arg127Gly) c.355C>G (p.Arg119Gly) n.318+3158C>G c.154C>G (p.Arg52Gly) | |
| 15 | g.58010700G>T | CA490587263 | ALDH1A2 | c.442C>A (p.Arg148=) c.*416C>A (n.*416C>A) c.379C>A (p.Arg127=) c.355C>A (p.Arg119=) n.318+3158C>A c.154C>A (p.Arg52=) | |
| 15 | g.58010701A= | CA2180114102 | ALDH1A2 | c.441T= (p.Phe147=) c.*415T= (n.*415T=) c.378T= (p.Phe126=) c.354T= (p.Phe118=) n.318+3157T= c.153T= (p.Phe51=) | |
| 15 | g.58010701A>C | CA392790094 | ALDH1A2 | c.441T>G (p.Phe147Leu) c.*415T>G (n.*415T>G) c.378T>G (p.Phe126Leu) c.354T>G (p.Phe118Leu) n.318+3157T>G c.153T>G (p.Phe51Leu) | dbSNP gnomAD v2 |
| 15 | g.58010701A>G | CA490587264 | ALDH1A2 | c.441T>C (p.Phe147=) c.*415T>C (n.*415T>C) c.378T>C (p.Phe126=) c.354T>C (p.Phe118=) n.318+3157T>C c.153T>C (p.Phe51=) | gnomAD v4 |
| 15 | g.58010701A>T | CA392790093 | ALDH1A2 | c.441T>A (p.Phe147Leu) c.*415T>A (n.*415T>A) c.378T>A (p.Phe126Leu) c.354T>A (p.Phe118Leu) n.318+3157T>A c.153T>A (p.Phe51Leu) | |
| 15 | g.58010702A>C | CA392790096 | ALDH1A2 | c.440T>G (p.Phe147Cys) c.*414T>G (n.*414T>G) c.377T>G (p.Phe126Cys) c.353T>G (p.Phe118Cys) n.318+3156T>G c.152T>G (p.Phe51Cys) | |
| 15 | g.58010702A>G | CA392790098 | ALDH1A2 | c.440T>C (p.Phe147Ser) c.*414T>C (n.*414T>C) c.377T>C (p.Phe126Ser) c.353T>C (p.Phe118Ser) n.318+3156T>C c.152T>C (p.Phe51Ser) | |
| 15 | g.58010702A>T | CA392790100 | ALDH1A2 | c.440T>A (p.Phe147Tyr) c.*414T>A (n.*414T>A) c.377T>A (p.Phe126Tyr) c.353T>A (p.Phe118Tyr) n.318+3156T>A c.152T>A (p.Phe51Tyr) |