Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.72022455A= | CA2045567449 | TPH2 | c.1125A= (p.Ala375=) c.531A= (p.Ala177=) | |
12 | g.72022455A>C | CA480768910 | TPH2 | c.1125A>C (p.Ala375=) c.531A>C (p.Ala177=) | |
12 | g.72022455A>G | CA480768911 | TPH2 | c.1125A>G (p.Ala375=) c.531A>G (p.Ala177=) | |
12 | g.72022455A>T | CA6689985 | TPH2 | c.1125A>T (p.Ala375=) c.531A>T (p.Ala177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.72022456T>A | CA385783812 | TPH2 | c.1126T>A (p.Tyr376Asn) c.532T>A (p.Tyr178Asn) | |
12 | g.72022456T>C | CA385783810 | TPH2 | c.1126T>C (p.Tyr376His) c.532T>C (p.Tyr178His) | |
12 | g.72022456T>G | CA385783811 | TPH2 | c.1126T>G (p.Tyr376Asp) c.532T>G (p.Tyr178Asp) | |
12 | g.72022457A>C | CA385783813 | TPH2 | c.1127A>C (p.Tyr376Ser) c.533A>C (p.Tyr178Ser) | |
12 | g.72022457A>G | CA385783814 | TPH2 | c.1127A>G (p.Tyr376Cys) c.533A>G (p.Tyr178Cys) | |
12 | g.72022457A>T | CA385783815 | TPH2 | c.1127A>T (p.Tyr376Phe) c.533A>T (p.Tyr178Phe) | |
12 | g.72022458del | CA2619889060 | TPH2 | c.1128del (p.Tyr376Ter) c.534del (p.Tyr178Ter) | gnomAD v4 |
12 | g.72022458T>A | CA385783816 | TPH2 | c.1128T>A (p.Tyr376Ter) c.534T>A (p.Tyr178Ter) | |
12 | g.72022458T>C | CA480768915 | TPH2 | c.1128T>C (p.Tyr376=) c.534T>C (p.Tyr178=) | |
12 | g.72022458T>G | CA385783817 | TPH2 | c.1128T>G (p.Tyr376Ter) c.534T>G (p.Tyr178Ter) | |
12 | g.72022459G>A | CA385783818 | TPH2 | c.1129G>A (p.Gly377Arg) c.535G>A (p.Gly179Arg) | |
12 | g.72022459G>C | CA385783819 | TPH2 | c.1129G>C (p.Gly377Arg) c.535G>C (p.Gly179Arg) | |
12 | g.72022459G>T | CA385783820 | TPH2 | c.1129G>T (p.Gly377Ter) c.535G>T (p.Gly179Ter) | |
12 | g.72022460G>A | CA385783821 | TPH2 | c.1130G>A (p.Gly377Glu) c.536G>A (p.Gly179Glu) | gnomAD v4 |
12 | g.72022460G>C | CA385783822 | TPH2 | c.1130G>C (p.Gly377Ala) c.536G>C (p.Gly179Ala) | |
12 | g.72022460G>T | CA385783823 | TPH2 | c.1130G>T (p.Gly377Val) c.536G>T (p.Gly179Val) | |
12 | g.72022461A>C | CA480768917 | TPH2 | c.1131A>C (p.Gly377=) c.537A>C (p.Gly179=) | |
12 | g.72022461A>G | CA480768918 | TPH2 | c.1131A>G (p.Gly377=) c.537A>G (p.Gly179=) | |
12 | g.72022461A>T | CA480768919 | TPH2 | c.1131A>T (p.Gly377=) c.537A>T (p.Gly179=) | |
12 | g.72022462G>A | CA6689986 | TPH2 | c.1132G>A (p.Ala378Thr) c.538G>A (p.Ala180Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.72022462G>C | CA385783824 | TPH2 | c.1132G>C (p.Ala378Pro) c.538G>C (p.Ala180Pro) | |
12 | g.72022462G= | CA2045567459 | TPH2 | c.1132G= (p.Ala378=) c.538G= (p.Ala180=) | |
12 | g.72022462G>T | CA385783825 | TPH2 | c.1132G>T (p.Ala378Ser) c.538G>T (p.Ala180Ser) | |
12 | g.72022463C>A | CA385783826 | TPH2 | c.1133C>A (p.Ala378Glu) c.539C>A (p.Ala180Glu) | |
12 | g.72022463C>G | CA385783827 | TPH2 | c.1133C>G (p.Ala378Gly) c.539C>G (p.Ala180Gly) | |
12 | g.72022463C>T | CA385783828 | TPH2 | c.1133C>T (p.Ala378Val) c.539C>T (p.Ala180Val) | |
12 | g.72022464A>C | CA480768922 | TPH2 | c.1134A>C (p.Ala378=) c.540A>C (p.Ala180=) | |
12 | g.72022464A>G | CA480768924 | TPH2 | c.1134A>G (p.Ala378=) c.540A>G (p.Ala180=) | |
12 | g.72022464A>T | CA480768923 | TPH2 | c.1134A>T (p.Ala378=) c.540A>T (p.Ala180=) | |
12 | g.72022465G>A | CA385783829 | TPH2 | c.1135G>A (p.Gly379Arg) c.541G>A (p.Gly181Arg) | |
12 | g.72022465G>C | CA385783830 | TPH2 | c.1135G>C (p.Gly379Arg) c.541G>C (p.Gly181Arg) | |
12 | g.72022465G>T | CA385783831 | TPH2 | c.1135G>T (p.Gly379Ter) c.541G>T (p.Gly181Ter) | |
12 | g.72022466G>A | CA385783832 | TPH2 | c.1136G>A (p.Gly379Glu) c.542G>A (p.Gly181Glu) | |
12 | g.72022466G>C | CA385783833 | TPH2 | c.1136G>C (p.Gly379Ala) c.542G>C (p.Gly181Ala) | |
12 | g.72022466G>T | CA385783834 | TPH2 | c.1136G>T (p.Gly379Val) c.542G>T (p.Gly181Val) | |
12 | g.72022467A>C | CA480768927 | TPH2 | c.1137A>C (p.Gly379=) c.543A>C (p.Gly181=) | |
12 | g.72022467A>G | CA480768928 | TPH2 | c.1137A>G (p.Gly379=) c.543A>G (p.Gly181=) | |
12 | g.72022467A>T | CA480768929 | TPH2 | c.1137A>T (p.Gly379=) c.543A>T (p.Gly181=) | |
12 | g.72022468C>A | CA385783835 | TPH2 | c.1138C>A (p.Leu380Ile) c.544C>A (p.Leu182Ile) | |
12 | g.72022468C>G | CA385783836 | TPH2 | c.1138C>G (p.Leu380Val) c.544C>G (p.Leu182Val) | |
12 | g.72022468C>T | CA385783837 | TPH2 | c.1138C>T (p.Leu380Phe) c.544C>T (p.Leu182Phe) | |
12 | g.72022468_72022469insAG | CA2508809306 | TPH2 | c.1138_1139insAG (p.Leu380GlnfsTer9) c.544_545insAG (p.Leu182GlnfsTer9) | |
12 | g.72022469T>A | CA385783839 | TPH2 | c.1139T>A (p.Leu380His) c.545T>A (p.Leu182His) | |
12 | g.72022469T>C | CA385783840 | TPH2 | c.1139T>C (p.Leu380Pro) c.545T>C (p.Leu182Pro) | |
12 | g.72022469T>G | CA385783838 | TPH2 | c.1139T>G (p.Leu380Arg) c.545T>G (p.Leu182Arg) | |
12 | g.72022470C>A | CA480768930 | TPH2 | c.1140C>A (p.Leu380=) c.546C>A (p.Leu182=) |