| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.71994494G>A | CA385781954 | TPH2 | c.997G>A (p.Ala333Thr) c.403G>A (p.Ala135Thr) | |
| 12 | g.71994494G>C | CA385781956 | TPH2 | c.997G>C (p.Ala333Pro) c.403G>C (p.Ala135Pro) | gnomAD v4 |
| 12 | g.71994494G= | CA2045533080 | TPH2 | c.997G= (p.Ala333=) c.403G= (p.Ala135=) | |
| 12 | g.71994494G>T | CA385781957 | TPH2 | c.997G>T (p.Ala333Ser) c.403G>T (p.Ala135Ser) | dbSNP gnomAD v4 |
| 12 | g.71994495C>A | CA385781960 | TPH2 | c.998C>A (p.Ala333Asp) c.404C>A (p.Ala135Asp) | |
| 12 | g.71994495C>G | CA385781962 | TPH2 | c.998C>G (p.Ala333Gly) c.404C>G (p.Ala135Gly) | |
| 12 | g.71994495C>T | CA385781963 | TPH2 | c.998C>T (p.Ala333Val) c.404C>T (p.Ala135Val) | |
| 12 | g.71994496T>A | CA480764999 | TPH2 | c.999T>A (p.Ala333=) c.405T>A (p.Ala135=) | |
| 12 | g.71994496T>C | CA239224902 | TPH2 | c.999T>C (p.Ala333=) c.405T>C (p.Ala135=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.71994496T>G | CA480765000 | TPH2 | c.999T>G (p.Ala333=) c.405T>G (p.Ala135=) | |
| 12 | g.71994496T= | CA2045533081 | TPH2 | c.999T= (p.Ala333=) c.405T= (p.Ala135=) | |
| 12 | g.71994497C>A | CA385781969 | TPH2 | c.1000C>A (p.Gln334Lys) c.406C>A (p.Gln136Lys) | gnomAD v4 |
| 12 | g.71994497C= | CA2045533082 | TPH2 | c.1000C= (p.Gln334=) c.406C= (p.Gln136=) | |
| 12 | g.71994497C>G | CA239224904 | TPH2 | c.1000C>G (p.Gln334Glu) c.406C>G (p.Gln136Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.71994497C>T | CA385781968 | TPH2 | c.1000C>T (p.Gln334Ter) c.406C>T (p.Gln136Ter) | |
| 12 | g.71994498A>C | CA385781971 | TPH2 | c.1001A>C (p.Gln334Pro) c.407A>C (p.Gln136Pro) | |
| 12 | g.71994498A>G | CA385781973 | TPH2 | c.1001A>G (p.Gln334Arg) c.407A>G (p.Gln136Arg) | |
| 12 | g.71994498A>T | CA385781975 | TPH2 | c.1001A>T (p.Gln334Leu) c.407A>T (p.Gln136Leu) | |
| 12 | g.71994499G>A | CA480765002 | TPH2 | c.1002G>A (p.Gln334=) c.408G>A (p.Gln136=) | dbSNP |
| 12 | g.71994499G>C | CA385781977 | TPH2 | c.1002G>C (p.Gln334His) c.408G>C (p.Gln136His) | |
| 12 | g.71994499G= | CA2045533083 | TPH2 | c.1002G= (p.Gln334=) c.408G= (p.Gln136=) | |
| 12 | g.71994499G>T | CA385781978 | TPH2 | c.1002G>T (p.Gln334His) c.408G>T (p.Gln136His) | |
| 12 | g.71994500T>A | CA385781980 | TPH2 | c.1003T>A (p.Phe335Ile) c.409T>A (p.Phe137Ile) | |
| 12 | g.71994500T>C | CA385781984 | TPH2 | c.1003T>C (p.Phe335Leu) c.409T>C (p.Phe137Leu) | |
| 12 | g.71994500T>G | CA385781983 | TPH2 | c.1003T>G (p.Phe335Val) c.409T>G (p.Phe137Val) | |
| 12 | g.71994501T>A | CA385781987 | TPH2 | c.1004T>A (p.Phe335Tyr) c.410T>A (p.Phe137Tyr) | |
| 12 | g.71994501T>C | CA385781988 | TPH2 | c.1004T>C (p.Phe335Ser) c.410T>C (p.Phe137Ser) | |
| 12 | g.71994501T>G | CA385781989 | TPH2 | c.1004T>G (p.Phe335Cys) c.410T>G (p.Phe137Cys) | |
| 12 | g.71994502T>A | CA385781990 | TPH2 | c.1005T>A (p.Phe335Leu) c.411T>A (p.Phe137Leu) | |
| 12 | g.71994502T>C | CA480765003 | TPH2 | c.1005T>C (p.Phe335=) c.411T>C (p.Phe137=) | |
| 12 | g.71994502T>G | CA385781991 | TPH2 | c.1005T>G (p.Phe335Leu) c.411T>G (p.Phe137Leu) | |
| 12 | g.71994503T>A | CA385781992 | TPH2 | c.1006T>A (p.Ser336Thr) c.412T>A (p.Ser138Thr) | |
| 12 | g.71994503T>C | CA385781993 | TPH2 | c.1006T>C (p.Ser336Pro) c.412T>C (p.Ser138Pro) | |
| 12 | g.71994503T>G | CA385781994 | TPH2 | c.1006T>G (p.Ser336Ala) c.412T>G (p.Ser138Ala) | |
| 12 | g.71994504C>A | CA385781996 | TPH2 | c.1007C>A (p.Ser336Ter) c.413C>A (p.Ser138Ter) | |
| 12 | g.71994504C>G | CA385781998 | TPH2 | c.1007C>G (p.Ser336Ter) c.413C>G (p.Ser138Ter) | dbSNP |
| 12 | g.71994504C>T | CA385782000 | TPH2 | c.1007C>T (p.Ser336Leu) c.413C>T (p.Ser138Leu) | COSMIC |
| 12 | g.71994505A>C | CA480765004 | TPH2 | c.1008A>C (p.Ser336=) c.414A>C (p.Ser138=) | |
| 12 | g.71994505A>G | CA480765005 | TPH2 | c.1008A>G (p.Ser336=) c.414A>G (p.Ser138=) | |
| 12 | g.71994505A>T | CA480765006 | TPH2 | c.1008A>T (p.Ser336=) c.414A>T (p.Ser138=) | |
| 12 | g.71994506C>A | CA385782003 | TPH2 | c.1009C>A (p.Gln337Lys) c.415C>A (p.Gln139Lys) | |
| 12 | g.71994506C>G | CA385782007 | TPH2 | c.1009C>G (p.Gln337Glu) c.415C>G (p.Gln139Glu) | |
| 12 | g.71994506C>T | CA385782006 | TPH2 | c.1009C>T (p.Gln337Ter) c.415C>T (p.Gln139Ter) | |
| 12 | g.71994506_71994510delinsCAAGA | CA2045533084 | TPH2 | c.1009_1013delinsCAAGA (p.Gln337=) c.415_419delinsCAAGA (p.Gln139=) | |
| 12 | g.71994507A= | CA2045533085 | TPH2 | c.1010A= (p.Gln337=) c.416A= (p.Gln139=) | |
| 12 | g.71994507A>C | CA385782011 | TPH2 | c.1010A>C (p.Gln337Pro) c.416A>C (p.Gln139Pro) | dbSNP |
| 12 | g.71994507A>G | CA385782014 | TPH2 | c.1010A>G (p.Gln337Arg) c.416A>G (p.Gln139Arg) | |
| 12 | g.71994507A>T | CA385782013 | TPH2 | c.1010A>T (p.Gln337Leu) c.416A>T (p.Gln139Leu) | |
| 12 | g.71994509_71994512del | CA949088501 | TPH2 | c.1012_1015del (p.Glu338Ter) c.418_421del (p.Glu140Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.71994508A>C | CA385782015 | TPH2 | c.1011A>C (p.Gln337His) c.417A>C (p.Gln139His) |