Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.71994518C>A | CA385782075 | TPH2 | c.1021C>A (p.Leu341Met) c.427C>A (p.Leu143Met) | |
12 | g.71994518C= | CA2045533090 | TPH2 | c.1021C= (p.Leu341=) c.427C= (p.Leu143=) | |
12 | g.71994518C>G | CA385782077 | TPH2 | c.1021C>G (p.Leu341Val) c.427C>G (p.Leu143Val) | |
12 | g.71994518C>T | CA480765013 | TPH2 | c.1021C>T (p.Leu341=) c.427C>T (p.Leu143=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.71994518_71994519delinsCT | CA2045533089 | TPH2 | c.1021_1022delinsCT (p.Leu341=) c.427_428delinsCT (p.Leu143=) | |
12 | g.71994519del | CA691590803 | TPH2 | c.1022del (p.Leu341ArgfsTer14) c.428del (p.Leu143ArgfsTer14) | dbSNP gnomAD v4 |
12 | g.71994519T>A | CA385782079 | TPH2 | c.1022T>A (p.Leu341Gln) c.428T>A (p.Leu143Gln) | |
12 | g.71994519T>C | CA385782082 | TPH2 | c.1022T>C (p.Leu341Pro) c.428T>C (p.Leu143Pro) | |
12 | g.71994519T>G | CA385782083 | TPH2 | c.1022T>G (p.Leu341Arg) c.428T>G (p.Leu143Arg) | |
12 | g.71994520G>A | CA480765014 | TPH2 | c.1023G>A (p.Leu341=) c.429G>A (p.Leu143=) | |
12 | g.71994520G>C | CA480765015 | TPH2 | c.1023G>C (p.Leu341=) c.429G>C (p.Leu143=) | |
12 | g.71994520G>T | CA480765016 | TPH2 | c.1023G>T (p.Leu341=) c.429G>T (p.Leu143=) | COSMIC |
12 | g.71994521G>A | CA385782085 | TPH2 | c.1024G>A (p.Ala342Thr) c.430G>A (p.Ala144Thr) | gnomAD v4 |
12 | g.71994521G>C | CA385782087 | TPH2 | c.1024G>C (p.Ala342Pro) c.430G>C (p.Ala144Pro) | |
12 | g.71994521G>T | CA385782089 | TPH2 | c.1024G>T (p.Ala342Ser) c.430G>T (p.Ala144Ser) | |
12 | g.71994522C>A | CA6689955 | TPH2 | c.1025C>A (p.Ala342Glu) c.431C>A (p.Ala144Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.71994522C= | CA2045533091 | TPH2 | c.1025C= (p.Ala342=) c.431C= (p.Ala144=) | |
12 | g.71994522C>G | CA385782094 | TPH2 | c.1025C>G (p.Ala342Gly) c.431C>G (p.Ala144Gly) | |
12 | g.71994522C>T | CA6689954 | TPH2 | c.1025C>T (p.Ala342Val) c.431C>T (p.Ala144Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.71994523G>A | CA6689956 | TPH2 | c.1026G>A (p.Ala342=) c.432G>A (p.Ala144=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.71994523G>C | CA480765017 | TPH2 | c.1026G>C (p.Ala342=) c.432G>C (p.Ala144=) | |
12 | g.71994523G= | CA2045533092 | TPH2 | c.1026G= (p.Ala342=) c.432G= (p.Ala144=) | |
12 | g.71994523G>T | CA480765018 | TPH2 | c.1026G>T (p.Ala342=) c.432G>T (p.Ala144=) | |
12 | g.71994524T>A | CA385782101 | TPH2 | c.1027T>A (p.Ser343Thr) c.433T>A (p.Ser145Thr) | |
12 | g.71994524T>C | CA385782104 | TPH2 | c.1027T>C (p.Ser343Pro) c.433T>C (p.Ser145Pro) | |
12 | g.71994524T>G | CA385782106 | TPH2 | c.1027T>G (p.Ser343Ala) c.433T>G (p.Ser145Ala) | |
12 | g.71994525C>A | CA385782108 | TPH2 | c.1028C>A (p.Ser343Tyr) c.434C>A (p.Ser145Tyr) | |
12 | g.71994525C>G | CA385782111 | TPH2 | c.1028C>G (p.Ser343Cys) c.434C>G (p.Ser145Cys) | |
12 | g.71994525C>T | CA385782113 | TPH2 | c.1028C>T (p.Ser343Phe) c.434C>T (p.Ser145Phe) | |
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=) |