Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.71994526T>A | CA480765019 | TPH2 | c.1029T>A (p.Ser343=) c.435T>A (p.Ser145=) | |
12 | g.71994526T>C | CA480765020 | TPH2 | c.1029T>C (p.Ser343=) c.435T>C (p.Ser145=) | |
12 | g.71994526T>G | CA480765021 | TPH2 | c.1029T>G (p.Ser343=) c.435T>G (p.Ser145=) | |
12 | g.71994527C>A | CA385782116 | TPH2 | c.1030C>A (p.Leu344Met) c.436C>A (p.Leu146Met) | |
12 | g.71994527C>G | CA385782117 | TPH2 | c.1030C>G (p.Leu344Val) c.436C>G (p.Leu146Val) | |
12 | g.71994527C>T | CA480765022 | TPH2 | c.1030C>T (p.Leu344=) c.436C>T (p.Leu146=) | |
12 | g.71994528T>A | CA385782120 | TPH2 | c.1031T>A (p.Leu344Gln) c.437T>A (p.Leu146Gln) | |
12 | g.71994528T>C | CA385782123 | TPH2 | c.1031T>C (p.Leu344Pro) c.437T>C (p.Leu146Pro) | |
12 | g.71994528T>G | CA385782126 | TPH2 | c.1031T>G (p.Leu344Arg) c.437T>G (p.Leu146Arg) | COSMIC |
12 | g.71994529G>A | CA480765023 | TPH2 | c.1032G>A (p.Leu344=) c.438G>A (p.Leu146=) | dbSNP gnomAD v4 |
12 | g.71994529G>C | CA480765024 | TPH2 | c.1032G>C (p.Leu344=) c.438G>C (p.Leu146=) | |
12 | g.71994529G= | CA2045533093 | TPH2 | c.1032G= (p.Leu344=) c.438G= (p.Leu146=) | |
12 | g.71994529G>T | CA480765025 | TPH2 | c.1032G>T (p.Leu344=) c.438G>T (p.Leu146=) | COSMIC |
12 | g.71994530G>A | CA385782136 | TPH2 | c.1033G>A (p.Gly345Arg) c.439G>A (p.Gly147Arg) | gnomAD v4 |
12 | g.71994530G>C | CA385782131 | TPH2 | c.1033G>C (p.Gly345Arg) c.439G>C (p.Gly147Arg) | |
12 | g.71994530G>T | CA385782134 | TPH2 | c.1033G>T (p.Gly345Ter) c.439G>T (p.Gly147Ter) | |
12 | g.71994531G>A | CA239224915 | TPH2 | c.1034G>A (p.Gly345Glu) c.440G>A (p.Gly147Glu) | dbSNP COSMIC |
12 | g.71994531G>C | CA385782141 | TPH2 | c.1034G>C (p.Gly345Ala) c.440G>C (p.Gly147Ala) | |
12 | g.71994531G= | CA2045533094 | TPH2 | c.1034G= (p.Gly345=) c.440G= (p.Gly147=) | |
12 | g.71994531G>T | CA385782143 | TPH2 | c.1034G>T (p.Gly345Val) c.440G>T (p.Gly147Val) | |
12 | g.71994532A= | CA2045533095 | TPH2 | c.1035A= (p.Gly345=) c.441A= (p.Gly147=) | |
12 | g.71994532A>C | CA480765027 | TPH2 | c.1035A>C (p.Gly345=) c.441A>C (p.Gly147=) | |
12 | g.71994532A>G | CA480765026 | TPH2 | c.1035A>G (p.Gly345=) c.441A>G (p.Gly147=) | |
12 | g.71994532A>T | CA6689957 | TPH2 | c.1035A>T (p.Gly345=) c.441A>T (p.Gly147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.71994533G>A | CA385782146 | TPH2 | c.1036G>A (p.Ala346Thr) c.442G>A (p.Ala148Thr) | dbSNP gnomAD v4 |
12 | g.71994533G>C | CA385782150 | TPH2 | c.1036G>C (p.Ala346Pro) c.442G>C (p.Ala148Pro) | |
12 | g.71994533G= | CA2045533096 | TPH2 | c.1036G= (p.Ala346=) c.442G= (p.Ala148=) | |
12 | g.71994533G>T | CA385782152 | TPH2 | c.1036G>T (p.Ala346Ser) c.442G>T (p.Ala148Ser) | dbSNP gnomAD v4 |
12 | g.71994534C>A | CA385782155 | TPH2 | c.1037C>A (p.Ala346Glu) c.443C>A (p.Ala148Glu) | |
12 | g.71994534C= | CA2045533097 | TPH2 | c.1037C= (p.Ala346=) c.443C= (p.Ala148=) | |
12 | g.71994534C>G | CA385782157 | TPH2 | c.1037C>G (p.Ala346Gly) c.443C>G (p.Ala148Gly) | |
12 | g.71994534C>T | CA385782159 | TPH2 | c.1037C>T (p.Ala346Val) c.443C>T (p.Ala148Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.71994535A>C | CA480765028 | TPH2 | c.1038A>C (p.Ala346=) c.444A>C (p.Ala148=) | |
12 | g.71994535A>G | CA480765029 | TPH2 | c.1038A>G (p.Ala346=) c.444A>G (p.Ala148=) | |
12 | g.71994535A>T | CA480765030 | TPH2 | c.1038A>T (p.Ala346=) c.444A>T (p.Ala148=) | |
12 | g.71994536T>A | CA385782162 | TPH2 | c.1039T>A (p.Ser347Thr) c.445T>A (p.Ser149Thr) | |
12 | g.71994536T>C | CA385782163 | TPH2 | c.1039T>C (p.Ser347Pro) c.445T>C (p.Ser149Pro) | |
12 | g.71994536T>G | CA385782165 | TPH2 | c.1039T>G (p.Ser347Ala) c.445T>G (p.Ser149Ala) | |
12 | g.71994537C>A | CA385782172 | TPH2 | c.1040C>A (p.Ser347Ter) c.446C>A (p.Ser149Ter) | |
12 | g.71994537C>G | CA385782170 | TPH2 | c.1040C>G (p.Ser347Ter) c.446C>G (p.Ser149Ter) | |
12 | g.71994537C>T | CA385782168 | TPH2 | c.1040C>T (p.Ser347Leu) c.446C>T (p.Ser149Leu) | dbSNP gnomAD v4 |
12 | g.71994538A= | CA2045533098 | TPH2 | c.1041A= (p.Ser347=) c.447A= (p.Ser149=) | |
12 | g.71994538A>C | CA6689958 | TPH2 | c.1041A>C (p.Ser347=) c.447A>C (p.Ser149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.71994538A>G | CA480765032 | TPH2 | c.1041A>G (p.Ser347=) c.447A>G (p.Ser149=) | |
12 | g.71994538A>T | CA480765031 | TPH2 | c.1041A>T (p.Ser347=) c.447A>T (p.Ser149=) | |
12 | g.71994539G>A | CA385782176 | TPH2 | c.1042G>A (p.Asp348Asn) c.448G>A (p.Asp150Asn) | gnomAD v4 |
12 | g.71994539G>C | CA6689959 | TPH2 | c.1042G>C (p.Asp348His) c.448G>C (p.Asp150His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.71994539G= | CA2045533099 | TPH2 | c.1042G= (p.Asp348=) c.448G= (p.Asp150=) | |
12 | g.71994539G>T | CA385782179 | TPH2 | c.1042G>T (p.Asp348Tyr) c.448G>T (p.Asp150Tyr) | |
12 | g.71994540A= | CA2045533100 | TPH2 | c.1043A= (p.Asp348=) c.449A= (p.Asp150=) |