Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.96253903_96254383del | CA2573135942 | TMEM127 | c.410-265_625del c.158-265_373del c.-509-265_-294del | ClinVar dbSNP |
2 | g.96253925G>A | CA427807836 | TMEM127 | c.600C>T (p.Pro200=) c.348C>T (p.Pro116=) c.-319C>T (n.-319C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.96253925G>C | CA427807837 | TMEM127 | c.600C>G (p.Pro200=) c.348C>G (p.Pro116=) c.-319C>G (n.-319C>G) | dbSNP gnomAD v4 |
2 | g.96253925G= | CA1272522065 | TMEM127 | c.600C= (p.Pro200=) c.348C= (p.Pro116=) c.-319C= (n.-319C=) | |
2 | g.96253925G>T | CA16611030 | TMEM127 | c.600C>A (p.Pro200=) c.348C>A (p.Pro116=) c.-319C>A (n.-319C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96253926G>A | CA347652038 | TMEM127 | c.599C>T (p.Pro200Leu) c.347C>T (p.Pro116Leu) c.-320C>T (n.-320C>T) | |
2 | g.96253926G>C | CA347652041 | TMEM127 | c.599C>G (p.Pro200Arg) c.347C>G (p.Pro116Arg) c.-320C>G (n.-320C>G) | |
2 | g.96253926G>T | CA347652046 | TMEM127 | c.599C>A (p.Pro200His) c.347C>A (p.Pro116His) c.-320C>A (n.-320C>A) | |
2 | g.96253927G>A | CA52411978 | TMEM127 | c.598C>T (p.Pro200Ser) c.346C>T (p.Pro116Ser) c.-321C>T (n.-321C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253927G>C | CA347652050 | TMEM127 | c.598C>G (p.Pro200Ala) c.346C>G (p.Pro116Ala) c.-321C>G (n.-321C>G) | dbSNP |
2 | g.96253927G= | CA1272522066 | TMEM127 | c.598C= (p.Pro200=) c.346C= (p.Pro116=) c.-321C= (n.-321C=) | |
2 | g.96253927G>T | CA1777273 | TMEM127 | c.598C>A (p.Pro200Thr) c.346C>A (p.Pro116Thr) c.-321C>A (n.-321C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253928G>A | CA427807839 | TMEM127 | c.597C>T (p.Tyr199=) c.345C>T (p.Tyr115=) c.-322C>T (n.-322C>T) | ClinVar dbSNP |
2 | g.96253928G>C | CA347652051 | TMEM127 | c.597C>G (p.Tyr199Ter) c.345C>G (p.Tyr115Ter) c.-322C>G (n.-322C>G) | |
2 | g.96253928G= | CA1272522067 | TMEM127 | c.597C= (p.Tyr199=) c.345C= (p.Tyr115=) c.-322C= (n.-322C=) | |
2 | g.96253928G>T | CA347652052 | TMEM127 | c.597C>A (p.Tyr199Ter) c.345C>A (p.Tyr115Ter) c.-322C>A (n.-322C>A) | ClinVar dbSNP |
2 | g.96253929T>A | CA347652057 | TMEM127 | c.596A>T (p.Tyr199Phe) c.344A>T (p.Tyr115Phe) c.-323A>T (n.-323A>T) | ClinVar dbSNP |
2 | g.96253929T>C | CA347652072 | TMEM127 | c.596A>G (p.Tyr199Cys) c.344A>G (p.Tyr115Cys) c.-323A>G (n.-323A>G) | dbSNP |
2 | g.96253929T>G | CA347652054 | TMEM127 | c.596A>C (p.Tyr199Ser) c.344A>C (p.Tyr115Ser) c.-323A>C (n.-323A>C) | dbSNP |
2 | g.96253929T= | CA1272522068 | TMEM127 | c.596A= (p.Tyr199=) c.344A= (p.Tyr115=) c.-323A= (n.-323A=) | |
2 | g.96253930A>C | CA347652083 | TMEM127 | c.595T>G (p.Tyr199Asp) c.343T>G (p.Tyr115Asp) c.-324T>G (n.-324T>G) | |
2 | g.96253930A>G | CA347652086 | TMEM127 | c.595T>C (p.Tyr199His) c.343T>C (p.Tyr115His) c.-324T>C (n.-324T>C) | dbSNP |
2 | g.96253930A>T | CA347652085 | TMEM127 | c.595T>A (p.Tyr199Asn) c.343T>A (p.Tyr115Asn) c.-324T>A (n.-324T>A) | dbSNP |
2 | g.96253931G>A | CA427807841 | TMEM127 | c.594C>T (p.His198=) c.342C>T (p.His114=) c.-325C>T (n.-325C>T) | dbSNP |
2 | g.96253931G>C | CA347652088 | TMEM127 | c.594C>G (p.His198Gln) c.342C>G (p.His114Gln) c.-325C>G (n.-325C>G) | ClinVar dbSNP |
2 | g.96253931G>T | CA347652089 | TMEM127 | c.594C>A (p.His198Gln) c.342C>A (p.His114Gln) c.-325C>A (n.-325C>A) | |
2 | g.96253932T>A | CA347652092 | TMEM127 | c.593A>T (p.His198Leu) c.341A>T (p.His114Leu) c.-326A>T (n.-326A>T) | |
2 | g.96253932T>C | CA347652095 | TMEM127 | c.593A>G (p.His198Arg) c.341A>G (p.His114Arg) c.-326A>G (n.-326A>G) | ClinVar |
2 | g.96253932T>G | CA347652098 | TMEM127 | c.593A>C (p.His198Pro) c.341A>C (p.His114Pro) c.-326A>C (n.-326A>C) | |
2 | g.96253933G>A | CA347652102 | TMEM127 | c.592C>T (p.His198Tyr) c.340C>T (p.His114Tyr) c.-327C>T (n.-327C>T) | |
2 | g.96253933G>C | CA347652123 | TMEM127 | c.592C>G (p.His198Asp) c.340C>G (p.His114Asp) c.-327C>G (n.-327C>G) | |
2 | g.96253933G>T | CA347652127 | TMEM127 | c.592C>A (p.His198Asn) c.340C>A (p.His114Asn) c.-327C>A (n.-327C>A) | |
2 | g.96253934G>A | CA427807845 | TMEM127 | c.591C>T (p.Arg197=) c.339C>T (p.Arg113=) c.-328C>T (n.-328C>T) | ClinVar dbSNP |
2 | g.96253934G>C | CA427807846 | TMEM127 | c.591C>G (p.Arg197=) c.339C>G (p.Arg113=) c.-328C>G (n.-328C>G) | dbSNP |
2 | g.96253934G>T | CA427807847 | TMEM127 | c.591C>A (p.Arg197=) c.339C>A (p.Arg113=) c.-328C>A (n.-328C>A) | dbSNP |
2 | g.96253935C>A | CA347652137 | TMEM127 | c.590G>T (p.Arg197Leu) c.338G>T (p.Arg113Leu) c.-329G>T (n.-329G>T) | dbSNP |
2 | g.96253935C= | CA1272522069 | TMEM127 | c.590G= (p.Arg197=) c.338G= (p.Arg113=) c.-329G= (n.-329G=) | |
2 | g.96253935C>G | CA347652139 | TMEM127 | c.590G>C (p.Arg197Pro) c.338G>C (p.Arg113Pro) c.-329G>C (n.-329G>C) | dbSNP |
2 | g.96253935C>T | CA347652142 | TMEM127 | c.590G>A (p.Arg197His) c.338G>A (p.Arg113His) c.-329G>A (n.-329G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.96253936G>A | CA1777274 | TMEM127 | c.589C>T (p.Arg197Cys) c.337C>T (p.Arg113Cys) c.-330C>T (n.-330C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.96253936G>C | CA347652148 | TMEM127 | c.589C>G (p.Arg197Gly) c.337C>G (p.Arg113Gly) c.-330C>G (n.-330C>G) | dbSNP |
2 | g.96253936G= | CA1272522070 | TMEM127 | c.589C= (p.Arg197=) c.337C= (p.Arg113=) c.-330C= (n.-330C=) | |
2 | g.96253936G>T | CA347652146 | TMEM127 | c.589C>A (p.Arg197Ser) c.337C>A (p.Arg113Ser) c.-330C>A (n.-330C>A) | dbSNP |
2 | g.96253937C>A | CA427807849 | TMEM127 | c.588G>T (p.Leu196=) c.336G>T (p.Leu112=) c.-331G>T (n.-331G>T) | gnomAD v4 |
2 | g.96253937C= | CA1272522071 | TMEM127 | c.588G= (p.Leu196=) c.336G= (p.Leu112=) c.-331G= (n.-331G=) | |
2 | g.96253937C>G | CA427807850 | TMEM127 | c.588G>C (p.Leu196=) c.336G>C (p.Leu112=) c.-331G>C (n.-331G>C) | dbSNP gnomAD v4 |
2 | g.96253937C>T | CA427807852 | TMEM127 | c.588G>A (p.Leu196=) c.336G>A (p.Leu112=) c.-331G>A (n.-331G>A) | ClinVar dbSNP |
2 | g.96253938A= | CA1272522072 | TMEM127 | c.587T= (p.Leu196=) c.335T= (p.Leu112=) c.-332T= (n.-332T=) | |
2 | g.96253938A>C | CA347652163 | TMEM127 | c.587T>G (p.Leu196Arg) c.335T>G (p.Leu112Arg) c.-332T>G (n.-332T>G) | ClinVar dbSNP |
2 | g.96253938A>G | CA347652165 | TMEM127 | c.587T>C (p.Leu196Pro) c.335T>C (p.Leu112Pro) c.-332T>C (n.-332T>C) | dbSNP gnomAD v4 |