Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122261681G>A | CA2569516 | CASR | c.646G>A (p.Asp216Asn) c.163G>A (p.Asp55Asn) c.58G>A (p.Asp20Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122261681G>C | CA354151040 | CASR | c.646G>C (p.Asp216His) c.163G>C (p.Asp55His) c.58G>C (p.Asp20His) | |
3 | g.122261681G= | CA1397872965 | CASR | c.646G= (p.Asp216=) c.163G= (p.Asp55=) c.58G= (p.Asp20=) | |
3 | g.122261681G>T | CA354151039 | CASR | c.646G>T (p.Asp216Tyr) c.163G>T (p.Asp55Tyr) c.58G>T (p.Asp20Tyr) | |
3 | g.122261682A= | CA1397872967 | CASR | c.647A= (p.Asp216=) c.164A= (p.Asp55=) c.59A= (p.Asp20=) | |
3 | g.122261682A>C | CA354151041 | CASR | c.647A>C (p.Asp216Ala) c.164A>C (p.Asp55Ala) c.59A>C (p.Asp20Ala) | |
3 | g.122261682A>G | CA354151043 | CASR | c.647A>G (p.Asp216Gly) c.164A>G (p.Asp55Gly) c.59A>G (p.Asp20Gly) | |
3 | g.122261682A>T | CA354151042 | CASR | c.647A>T (p.Asp216Val) c.164A>T (p.Asp55Val) c.59A>T (p.Asp20Val) | dbSNP |
3 | g.122261683C>A | CA354151044 | CASR | c.648C>A (p.Asp216Glu) c.165C>A (p.Asp55Glu) c.60C>A (p.Asp20Glu) | |
3 | g.122261683C= | CA1397872969 | CASR | c.648C= (p.Asp216=) c.165C= (p.Asp55=) c.60C= (p.Asp20=) | |
3 | g.122261683C>G | CA354151045 | CASR | c.648C>G (p.Asp216Glu) c.165C>G (p.Asp55Glu) c.60C>G (p.Asp20Glu) | |
3 | g.122261683C>T | CA2569517 | CASR | c.648C>T (p.Asp216=) c.165C>T (p.Asp55=) c.60C>T (p.Asp20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122261684G>A | CA2569518 | CASR | c.649G>A (p.Asp217Asn) c.166G>A (p.Asp56Asn) c.61G>A (p.Asp21Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261684G>C | CA354151046 | CASR | c.649G>C (p.Asp217His) c.166G>C (p.Asp56His) c.61G>C (p.Asp21His) | |
3 | g.122261684G= | CA1397872974 | CASR | c.649G= (p.Asp217=) c.166G= (p.Asp56=) c.61G= (p.Asp21=) | |
3 | g.122261684G>T | CA354151047 | CASR | c.649G>T (p.Asp217Tyr) c.166G>T (p.Asp56Tyr) c.61G>T (p.Asp21Tyr) | ClinVar dbSNP |
3 | g.122261685A= | CA1397872976 | CASR | c.650A= (p.Asp217=) c.167A= (p.Asp56=) c.62A= (p.Asp21=) | |
3 | g.122261685A>C | CA354151048 | CASR | c.650A>C (p.Asp217Ala) c.167A>C (p.Asp56Ala) c.62A>C (p.Asp21Ala) | |
3 | g.122261685A>G | CA10602862 | CASR | c.650A>G (p.Asp217Gly) c.167A>G (p.Asp56Gly) c.62A>G (p.Asp21Gly) | ClinVar dbSNP COSMIC |
3 | g.122261685A>T | CA354151049 | CASR | c.650A>T (p.Asp217Val) c.167A>T (p.Asp56Val) c.62A>T (p.Asp21Val) | |
3 | g.122261686C>A | CA354151050 | CASR | c.651C>A (p.Asp217Glu) c.168C>A (p.Asp56Glu) c.63C>A (p.Asp21Glu) | |
3 | g.122261686C>G | CA354151051 | CASR | c.651C>G (p.Asp217Glu) c.168C>G (p.Asp56Glu) c.63C>G (p.Asp21Glu) | |
3 | g.122261686C>T | CA435424215 | CASR | c.651C>T (p.Asp217=) c.168C>T (p.Asp56=) c.63C>T (p.Asp21=) | ClinVar dbSNP |
3 | g.122261687T>A | CA354151053 | CASR | c.652T>A (p.Tyr218Asn) c.169T>A (p.Tyr57Asn) c.64T>A (p.Tyr22Asn) | ClinVar |
3 | g.122261687T>C | CA354151052 | CASR | c.652T>C (p.Tyr218His) c.169T>C (p.Tyr57His) c.64T>C (p.Tyr22His) | ClinVar dbSNP gnomAD v4 |
3 | g.122261687T>G | CA16604347 | CASR | c.652T>G (p.Tyr218Asp) c.169T>G (p.Tyr57Asp) c.64T>G (p.Tyr22Asp) | ClinVar dbSNP |
3 | g.122261687T= | CA1397872979 | CASR | c.652T= (p.Tyr218=) c.169T= (p.Tyr57=) c.64T= (p.Tyr22=) | |
3 | g.122261688A= | CA1397872981 | CASR | c.653A= (p.Tyr218=) c.170A= (p.Tyr57=) c.65A= (p.Tyr22=) | |
3 | g.122261688A>C | CA354151054 | CASR | c.653A>C (p.Tyr218Ser) c.170A>C (p.Tyr57Ser) c.65A>C (p.Tyr22Ser) | |
3 | g.122261688A>G | CA354151055 | CASR | c.653A>G (p.Tyr218Cys) c.170A>G (p.Tyr57Cys) c.65A>G (p.Tyr22Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.122261688A>T | CA354151056 | CASR | c.653A>T (p.Tyr218Phe) c.170A>T (p.Tyr57Phe) c.65A>T (p.Tyr22Phe) | |
3 | g.122261689T>A | CA354151057 | CASR | c.654T>A (p.Tyr218Ter) c.171T>A (p.Tyr57Ter) c.66T>A (p.Tyr22Ter) | |
3 | g.122261689T>C | CA435424216 | CASR | c.654T>C (p.Tyr218=) c.171T>C (p.Tyr57=) c.66T>C (p.Tyr22=) | ClinVar dbSNP |
3 | g.122261689T>G | CA354151058 | CASR | c.654T>G (p.Tyr218Ter) c.171T>G (p.Tyr57Ter) c.66T>G (p.Tyr22Ter) | |
3 | g.122261689T= | CA1397872984 | CASR | c.654T= (p.Tyr218=) c.171T= (p.Tyr57=) c.66T= (p.Tyr22=) | |
3 | g.122261690G>A | CA354151059 | CASR | c.655G>A (p.Gly219Arg) c.172G>A (p.Gly58Arg) c.67G>A (p.Gly23Arg) | |
3 | g.122261690G>C | CA354151060 | CASR | c.655G>C (p.Gly219Arg) c.172G>C (p.Gly58Arg) c.67G>C (p.Gly23Arg) | |
3 | g.122261690G>T | CA354151061 | CASR | c.655G>T (p.Gly219Trp) c.172G>T (p.Gly58Trp) c.67G>T (p.Gly23Trp) | ClinVar dbSNP |
3 | g.122261691G>A | CA354151062 | CASR | c.656G>A (p.Gly219Glu) c.173G>A (p.Gly58Glu) c.68G>A (p.Gly23Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261691G>C | CA354151063 | CASR | c.656G>C (p.Gly219Ala) c.173G>C (p.Gly58Ala) c.68G>C (p.Gly23Ala) | |
3 | g.122261691G= | CA1397872987 | CASR | c.656G= (p.Gly219=) c.173G= (p.Gly58=) c.68G= (p.Gly23=) | |
3 | g.122261691G>T | CA354151064 | CASR | c.656G>T (p.Gly219Val) c.173G>T (p.Gly58Val) c.68G>T (p.Gly23Val) | |
3 | g.122261692G>A | CA2569519 | CASR | c.657G>A (p.Gly219=) c.174G>A (p.Gly58=) c.69G>A (p.Gly23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261692G>C | CA435424217 | CASR | c.657G>C (p.Gly219=) c.174G>C (p.Gly58=) c.69G>C (p.Gly23=) | |
3 | g.122261692G= | CA1397872989 | CASR | c.657G= (p.Gly219=) c.174G= (p.Gly58=) c.69G= (p.Gly23=) | |
3 | g.122261692G>T | CA435424218 | CASR | c.657G>T (p.Gly219=) c.174G>T (p.Gly58=) c.69G>T (p.Gly23=) | ClinVar |
3 | g.122261693C>A | CA435424219 | CASR | c.658C>A (p.Arg220=) c.175C>A (p.Arg59=) c.70C>A (p.Arg24=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261693C= | CA1397872993 | CASR | c.658C= (p.Arg220=) c.175C= (p.Arg59=) c.70C= (p.Arg24=) | |
3 | g.122261693C>G | CA354151066 | CASR | c.658C>G (p.Arg220Gly) c.175C>G (p.Arg59Gly) c.70C>G (p.Arg24Gly) | |
3 | g.122261693C>T | CA354151065 | CASR | c.658C>T (p.Arg220Trp) c.175C>T (p.Arg59Trp) c.70C>T (p.Arg24Trp) | ClinVar dbSNP gnomAD v2 COSMIC |
3 | g.122261694G>A | CA354151067 | CASR | c.659G>A (p.Arg220Gln) c.176G>A (p.Arg59Gln) c.71G>A (p.Arg24Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.122261694G>C | CA354151068 | CASR | c.659G>C (p.Arg220Pro) c.176G>C (p.Arg59Pro) c.71G>C (p.Arg24Pro) | ClinVar |
3 | g.122261694G= | CA1397872996 | CASR | c.659G= (p.Arg220=) c.176G= (p.Arg59=) c.71G= (p.Arg24=) | |
3 | g.122261694G>T | CA354151069 | CASR | c.659G>T (p.Arg220Leu) c.176G>T (p.Arg59Leu) c.71G>T (p.Arg24Leu) | |
3 | g.122261695G>A | CA435424220 | CASR | c.660G>A (p.Arg220=) c.177G>A (p.Arg59=) c.72G>A (p.Arg24=) | |
3 | g.122261695G>C | CA435424222 | CASR | c.660G>C (p.Arg220=) c.177G>C (p.Arg59=) c.72G>C (p.Arg24=) | |
3 | g.122261695G>T | CA435424221 | CASR | c.660G>T (p.Arg220=) c.177G>T (p.Arg59=) c.72G>T (p.Arg24=) | ClinVar gnomAD v4 |
3 | g.122261696C>A | CA354151070 | CASR | c.661C>A (p.Pro221Thr) c.178C>A (p.Pro60Thr) c.73C>A (p.Pro25Thr) | |
3 | g.122261696C>G | CA354151071 | CASR | c.661C>G (p.Pro221Ala) c.178C>G (p.Pro60Ala) c.73C>G (p.Pro25Ala) | |
3 | g.122261696C>T | CA354151072 | CASR | c.661C>T (p.Pro221Ser) c.178C>T (p.Pro60Ser) c.73C>T (p.Pro25Ser) | ClinVar |
3 | g.122261697C>A | CA144611 | CASR | c.662C>A (p.Pro221Gln) c.179C>A (p.Pro60Gln) c.74C>A (p.Pro25Gln) | ClinVar dbSNP |
3 | g.122261697C= | CA1397872999 | CASR | c.662C= (p.Pro221=) c.179C= (p.Pro60=) c.74C= (p.Pro25=) | |
3 | g.122261697C>G | CA354151073 | CASR | c.662C>G (p.Pro221Arg) c.179C>G (p.Pro60Arg) c.74C>G (p.Pro25Arg) | |
3 | g.122261697C>T | CA144609 | CASR | c.662C>T (p.Pro221Leu) c.179C>T (p.Pro60Leu) c.74C>T (p.Pro25Leu) | ClinVar dbSNP |
3 | g.122261698G>A | CA435424223 | CASR | c.663G>A (p.Pro221=) c.180G>A (p.Pro60=) c.75G>A (p.Pro25=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261698G>C | CA2569520 | CASR | c.663G>C (p.Pro221=) c.180G>C (p.Pro60=) c.75G>C (p.Pro25=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261698G= | CA1397873002 | CASR | c.663G= (p.Pro221=) c.180G= (p.Pro60=) c.75G= (p.Pro25=) | |
3 | g.122261698G>T | CA435424224 | CASR | c.663G>T (p.Pro221=) c.180G>T (p.Pro60=) c.75G>T (p.Pro25=) | |
3 | g.122261701del | CA645532161 | CASR | c.666del (p.Ile223LeufsTer?) c.183del (p.Ile62LeufsTer?) c.78del (p.Ile27LeufsTer?) | ClinVar dbSNP COSMIC |
3 | g.122261699G>A | CA354151076 | CASR | c.664G>A (p.Gly222Arg) c.181G>A (p.Gly61Arg) c.76G>A (p.Gly26Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.122261699G>C | CA354151075 | CASR | c.664G>C (p.Gly222Arg) c.181G>C (p.Gly61Arg) c.76G>C (p.Gly26Arg) | |
3 | g.122261699G>T | CA354151074 | CASR | c.664G>T (p.Gly222Trp) c.181G>T (p.Gly61Trp) c.76G>T (p.Gly26Trp) | |
3 | g.122261700G>A | CA354151077 | CASR | c.665G>A (p.Gly222Glu) c.182G>A (p.Gly61Glu) c.77G>A (p.Gly26Glu) | ClinVar |
3 | g.122261700G>C | CA354151078 | CASR | c.665G>C (p.Gly222Ala) c.182G>C (p.Gly61Ala) c.77G>C (p.Gly26Ala) | |
3 | g.122261700G>T | CA354151079 | CASR | c.665G>T (p.Gly222Val) c.182G>T (p.Gly61Val) c.77G>T (p.Gly26Val) | |
3 | g.122261701G>A | CA435424225 | CASR | c.666G>A (p.Gly222=) c.183G>A (p.Gly61=) c.78G>A (p.Gly26=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261701G>C | CA435424226 | CASR | c.666G>C (p.Gly222=) c.183G>C (p.Gly61=) c.78G>C (p.Gly26=) | |
3 | g.122261701G>T | CA435424227 | CASR | c.666G>T (p.Gly222=) c.183G>T (p.Gly61=) c.78G>T (p.Gly26=) | gnomAD v4 |
3 | g.122261702A>C | CA354151080 | CASR | c.667A>C (p.Ile223Leu) c.184A>C (p.Ile62Leu) c.79A>C (p.Ile27Leu) | |
3 | g.122261702A>G | CA354151081 | CASR | c.667A>G (p.Ile223Val) c.184A>G (p.Ile62Val) c.79A>G (p.Ile27Val) | |
3 | g.122261702A>T | CA354151082 | CASR | c.667A>T (p.Ile223Phe) c.184A>T (p.Ile62Phe) c.79A>T (p.Ile27Phe) | |
3 | g.122261703T>A | CA354151083 | CASR | c.668T>A (p.Ile223Asn) c.185T>A (p.Ile62Asn) c.80T>A (p.Ile27Asn) | |
3 | g.122261703T>C | CA354151084 | CASR | c.668T>C (p.Ile223Thr) c.185T>C (p.Ile62Thr) c.80T>C (p.Ile27Thr) | dbSNP |
3 | g.122261703T>G | CA354151085 | CASR | c.668T>G (p.Ile223Ser) c.185T>G (p.Ile62Ser) c.80T>G (p.Ile27Ser) | |
3 | g.122261703T= | CA1397873004 | CASR | c.668T= (p.Ile223=) c.185T= (p.Ile62=) c.80T= (p.Ile27=) | |
3 | g.122261704T>A | CA435424228 | CASR | c.669T>A (p.Ile223=) c.186T>A (p.Ile62=) c.81T>A (p.Ile27=) | |
3 | g.122261704T>C | CA435424229 | CASR | c.669T>C (p.Ile223=) c.186T>C (p.Ile62=) c.81T>C (p.Ile27=) | |
3 | g.122261704T>G | CA354151086 | CASR | c.669T>G (p.Ile223Met) c.186T>G (p.Ile62Met) c.81T>G (p.Ile27Met) | |
3 | g.122261705G>A | CA354151087 | CASR | c.670G>A (p.Glu224Lys) c.187G>A (p.Glu63Lys) c.82G>A (p.Glu28Lys) | |
3 | g.122261705G>C | CA354151088 | CASR | c.670G>C (p.Glu224Gln) c.187G>C (p.Glu63Gln) c.82G>C (p.Glu28Gln) | |
3 | g.122261705G>T | CA354151089 | CASR | c.670G>T (p.Glu224Ter) c.187G>T (p.Glu63Ter) c.82G>T (p.Glu28Ter) | |
3 | g.122261706A>C | CA354151091 | CASR | c.671A>C (p.Glu224Ala) c.188A>C (p.Glu63Ala) c.83A>C (p.Glu28Ala) | |
3 | g.122261706A>G | CA354151092 | CASR | c.671A>G (p.Glu224Gly) c.188A>G (p.Glu63Gly) c.83A>G (p.Glu28Gly) | |
3 | g.122261706A>T | CA354151090 | CASR | c.671A>T (p.Glu224Val) c.188A>T (p.Glu63Val) c.83A>T (p.Glu28Val) | |
3 | g.122261707G>A | CA435424230 | CASR | c.672G>A (p.Glu224=) c.189G>A (p.Glu63=) c.84G>A (p.Glu28=) | |
3 | g.122261707G>C | CA354151094 | CASR | c.672G>C (p.Glu224Asp) c.189G>C (p.Glu63Asp) c.84G>C (p.Glu28Asp) | ClinVar |
3 | g.122261707G>T | CA354151093 | CASR | c.672G>T (p.Glu224Asp) c.189G>T (p.Glu63Asp) c.84G>T (p.Glu28Asp) | |
3 | g.122261708A>C | CA354151095 | CASR | c.673A>C (p.Lys225Gln) c.190A>C (p.Lys64Gln) c.85A>C (p.Lys29Gln) | |
3 | g.122261708A>G | CA354151096 | CASR | c.673A>G (p.Lys225Glu) c.190A>G (p.Lys64Glu) c.85A>G (p.Lys29Glu) | |
3 | g.122261708A>T | CA354151097 | CASR | c.673A>T (p.Lys225Ter) c.190A>T (p.Lys64Ter) c.85A>T (p.Lys29Ter) | |
3 | g.122261709A>C | CA354151098 | CASR | c.674A>C (p.Lys225Thr) c.191A>C (p.Lys64Thr) c.86A>C (p.Lys29Thr) | |
3 | g.122261709A>G | CA354151099 | CASR | c.674A>G (p.Lys225Arg) c.191A>G (p.Lys64Arg) c.86A>G (p.Lys29Arg) | |
3 | g.122261709A>T | CA354151100 | CASR | c.674A>T (p.Lys225Ile) c.191A>T (p.Lys64Ile) c.86A>T (p.Lys29Ile) | |
3 | g.122261710A= | CA1397873006 | CASR | c.675A= (p.Lys225=) c.192A= (p.Lys64=) c.87A= (p.Lys29=) | |
3 | g.122261710A>C | CA354151101 | CASR | c.675A>C (p.Lys225Asn) c.192A>C (p.Lys64Asn) c.87A>C (p.Lys29Asn) | |
3 | g.122261710A>G | CA82738347 | CASR | c.675A>G (p.Lys225=) c.192A>G (p.Lys64=) c.87A>G (p.Lys29=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261710A>T | CA354151102 | CASR | c.675A>T (p.Lys225Asn) c.192A>T (p.Lys64Asn) c.87A>T (p.Lys29Asn) | |
3 | g.122261711T>A | CA354151103 | CASR | c.676T>A (p.Phe226Ile) c.193T>A (p.Phe65Ile) c.88T>A (p.Phe30Ile) | |
3 | g.122261711T>C | CA354151104 | CASR | c.676T>C (p.Phe226Leu) c.193T>C (p.Phe65Leu) c.88T>C (p.Phe30Leu) | |
3 | g.122261711T>G | CA354151105 | CASR | c.676T>G (p.Phe226Val) c.193T>G (p.Phe65Val) c.88T>G (p.Phe30Val) | |
3 | g.122261712T>A | CA354151106 | CASR | c.677T>A (p.Phe226Tyr) c.194T>A (p.Phe65Tyr) c.89T>A (p.Phe30Tyr) | |
3 | g.122261712T>C | CA354151108 | CASR | c.677T>C (p.Phe226Ser) c.194T>C (p.Phe65Ser) c.89T>C (p.Phe30Ser) | |
3 | g.122261712T>G | CA354151107 | CASR | c.677T>G (p.Phe226Cys) c.194T>G (p.Phe65Cys) c.89T>G (p.Phe30Cys) | |
3 | g.122261713C>A | CA354151109 | CASR | c.678C>A (p.Phe226Leu) c.195C>A (p.Phe65Leu) c.90C>A (p.Phe30Leu) | |
3 | g.122261713C>G | CA354151110 | CASR | c.678C>G (p.Phe226Leu) c.195C>G (p.Phe65Leu) c.90C>G (p.Phe30Leu) | |
3 | g.122261713C>T | CA435424231 | CASR | c.678C>T (p.Phe226=) c.195C>T (p.Phe65=) c.90C>T (p.Phe30=) | dbSNP gnomAD v4 COSMIC |
3 | g.122261714C>A | CA435424232 | CASR | c.679C>A (p.Arg227=) c.196C>A (p.Arg66=) c.91C>A (p.Arg31=) | dbSNP gnomAD v2 |
3 | g.122261714C= | CA1397873008 | CASR | c.679C= (p.Arg227=) c.196C= (p.Arg66=) c.91C= (p.Arg31=) | |
3 | g.122261714C>G | CA354151111 | CASR | c.679C>G (p.Arg227Gly) c.196C>G (p.Arg66Gly) c.91C>G (p.Arg31Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261714C>T | CA354151112 | CASR | c.679C>T (p.Arg227Ter) c.196C>T (p.Arg66Ter) c.91C>T (p.Arg31Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261715G>A | CA212891 | CASR | c.680G>A (p.Arg227Gln) c.197G>A (p.Arg66Gln) c.92G>A (p.Arg31Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122261715G>C | CA354151113 | CASR | c.680G>C (p.Arg227Pro) c.197G>C (p.Arg66Pro) c.92G>C (p.Arg31Pro) | |
3 | g.122261715G= | CA1397873011 | CASR | c.680G= (p.Arg227=) c.197G= (p.Arg66=) c.92G= (p.Arg31=) | |
3 | g.122261715G>T | CA119475 | CASR | c.680G>T (p.Arg227Leu) c.197G>T (p.Arg66Leu) c.92G>T (p.Arg31Leu) | ClinVar dbSNP |
3 | g.122261716A= | CA1397873014 | CASR | c.681A= (p.Arg227=) c.198A= (p.Arg66=) c.93A= (p.Arg31=) | |
3 | g.122261716A>C | CA435424234 | CASR | c.681A>C (p.Arg227=) c.198A>C (p.Arg66=) c.93A>C (p.Arg31=) | |
3 | g.122261716A>G | CA2569521 | CASR | c.681A>G (p.Arg227=) c.198A>G (p.Arg66=) c.93A>G (p.Arg31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261716A>T | CA435424233 | CASR | c.681A>T (p.Arg227=) c.198A>T (p.Arg66=) c.93A>T (p.Arg31=) | |
3 | g.122261717G>A | CA354151114 | CASR | c.682G>A (p.Glu228Lys) c.199G>A (p.Glu67Lys) c.94G>A (p.Glu32Lys) | |
3 | g.122261717G>C | CA354151115 | CASR | c.682G>C (p.Glu228Gln) c.199G>C (p.Glu67Gln) c.94G>C (p.Glu32Gln) | ClinVar |
3 | g.122261717G>T | CA354151116 | CASR | c.682G>T (p.Glu228Ter) c.199G>T (p.Glu67Ter) c.94G>T (p.Glu32Ter) | |
3 | g.122261718A>C | CA354151118 | CASR | c.683A>C (p.Glu228Ala) c.200A>C (p.Glu67Ala) c.95A>C (p.Glu32Ala) | |
3 | g.122261718A>G | CA354151119 | CASR | c.683A>G (p.Glu228Gly) c.200A>G (p.Glu67Gly) c.95A>G (p.Glu32Gly) | |
3 | g.122261718A>T | CA354151117 | CASR | c.683A>T (p.Glu228Val) c.200A>T (p.Glu67Val) c.95A>T (p.Glu32Val) | |
3 | g.122261719G>A | CA435424235 | CASR | c.684G>A (p.Glu228=) c.201G>A (p.Glu67=) c.96G>A (p.Glu32=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261719G>C | CA354151120 | CASR | c.684G>C (p.Glu228Asp) c.201G>C (p.Glu67Asp) c.96G>C (p.Glu32Asp) | |
3 | g.122261719G= | CA1397873015 | CASR | c.684G= (p.Glu228=) c.201G= (p.Glu67=) c.96G= (p.Glu32=) | |
3 | g.122261719G>T | CA354151121 | CASR | c.684G>T (p.Glu228Asp) c.201G>T (p.Glu67Asp) c.96G>T (p.Glu32Asp) | gnomAD v4 |
3 | g.122261720G>A | CA354151122 | CASR | c.685G>A (p.Glu229Lys) c.202G>A (p.Glu68Lys) c.97G>A (p.Glu33Lys) | |
3 | g.122261720G>C | CA354151123 | CASR | c.685G>C (p.Glu229Gln) c.202G>C (p.Glu68Gln) c.97G>C (p.Glu33Gln) | |
3 | g.122261720G>T | CA354151124 | CASR | c.685G>T (p.Glu229Ter) c.202G>T (p.Glu68Ter) c.97G>T (p.Glu33Ter) | |
3 | g.122261721A= | CA1397873017 | CASR | c.686A= (p.Glu229=) c.203A= (p.Glu68=) c.98A= (p.Glu33=) | |
3 | g.122261721A>C | CA354151125 | CASR | c.686A>C (p.Glu229Ala) c.203A>C (p.Glu68Ala) c.98A>C (p.Glu33Ala) | ClinVar dbSNP |
3 | g.122261721A>G | CA354151126 | CASR | c.686A>G (p.Glu229Gly) c.203A>G (p.Glu68Gly) c.98A>G (p.Glu33Gly) | |
3 | g.122261721A>T | CA354151127 | CASR | c.686A>T (p.Glu229Val) c.203A>T (p.Glu68Val) c.98A>T (p.Glu33Val) | |
3 | g.122261722A= | CA1397873018 | CASR | c.687A= (p.Glu229=) c.204A= (p.Glu68=) c.99A= (p.Glu33=) | |
3 | g.122261722A>C | CA354151128 | CASR | c.687A>C (p.Glu229Asp) c.204A>C (p.Glu68Asp) c.99A>C (p.Glu33Asp) | |
3 | g.122261722A>G | CA435424236 | CASR | c.687A>G (p.Glu229=) c.204A>G (p.Glu68=) c.99A>G (p.Glu33=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261722A>T | CA354151129 | CASR | c.687A>T (p.Glu229Asp) c.204A>T (p.Glu68Asp) c.99A>T (p.Glu33Asp) | |
3 | g.122261723G>A | CA354151130 | CASR | c.688G>A (p.Ala230Thr) c.205G>A (p.Ala69Thr) c.100G>A (p.Ala34Thr) | ClinVar |
3 | g.122261723G>C | CA354151131 | CASR | c.688G>C (p.Ala230Pro) c.205G>C (p.Ala69Pro) c.100G>C (p.Ala34Pro) | |
3 | g.122261723G>T | CA354151132 | CASR | c.688G>T (p.Ala230Ser) c.205G>T (p.Ala69Ser) c.100G>T (p.Ala34Ser) | |
3 | g.122261724C>A | CA354151135 | CASR | c.689C>A (p.Ala230Asp) c.206C>A (p.Ala69Asp) c.101C>A (p.Ala34Asp) | |
3 | g.122261724C>G | CA354151134 | CASR | c.689C>G (p.Ala230Gly) c.206C>G (p.Ala69Gly) c.101C>G (p.Ala34Gly) | |
3 | g.122261724C>T | CA354151133 | CASR | c.689C>T (p.Ala230Val) c.206C>T (p.Ala69Val) c.101C>T (p.Ala34Val) | ClinVar dbSNP |
3 | g.122261725T>A | CA435424237 | CASR | c.690T>A (p.Ala230=) c.207T>A (p.Ala69=) c.102T>A (p.Ala34=) | |
3 | g.122261725T>C | CA435424238 | CASR | c.690T>C (p.Ala230=) c.207T>C (p.Ala69=) c.102T>C (p.Ala34=) | |
3 | g.122261725T>G | CA435424239 | CASR | c.690T>G (p.Ala230=) c.207T>G (p.Ala69=) c.102T>G (p.Ala34=) | |
3 | g.122261726G>A | CA354151136 | CASR | c.691G>A (p.Glu231Lys) c.208G>A (p.Glu70Lys) c.103G>A (p.Glu35Lys) | ClinVar dbSNP |
3 | g.122261726G>C | CA354151137 | CASR | c.691G>C (p.Glu231Gln) c.208G>C (p.Glu70Gln) c.103G>C (p.Glu35Gln) | |
3 | g.122261726G>T | CA354151138 | CASR | c.691G>T (p.Glu231Ter) c.208G>T (p.Glu70Ter) c.103G>T (p.Glu35Ter) | |
3 | g.122261727A>C | CA354151139 | CASR | c.692A>C (p.Glu231Ala) c.209A>C (p.Glu70Ala) c.104A>C (p.Glu35Ala) | |
3 | g.122261727A>G | CA354151140 | CASR | c.692A>G (p.Glu231Gly) c.209A>G (p.Glu70Gly) c.104A>G (p.Glu35Gly) | |
3 | g.122261727A>T | CA354151141 | CASR | c.692A>T (p.Glu231Val) c.209A>T (p.Glu70Val) c.104A>T (p.Glu35Val) | |
3 | g.122261728G>A | CA435424240 | CASR | c.693G>A (p.Glu231=) c.210G>A (p.Glu70=) c.105G>A (p.Glu35=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261728G>C | CA354151142 | CASR | c.693G>C (p.Glu231Asp) c.210G>C (p.Glu70Asp) c.105G>C (p.Glu35Asp) | |
3 | g.122261728G= | CA1397873020 | CASR | c.693G= (p.Glu231=) c.210G= (p.Glu70=) c.105G= (p.Glu35=) | |
3 | g.122261728G>T | CA354151143 | CASR | c.693G>T (p.Glu231Asp) c.210G>T (p.Glu70Asp) c.105G>T (p.Glu35Asp) | |
3 | g.122261729G>A | CA354151144 | CASR | c.694G>A (p.Glu232Lys) c.211G>A (p.Glu71Lys) c.106G>A (p.Glu36Lys) | COSMIC |
3 | g.122261729G>C | CA354151145 | CASR | c.694G>C (p.Glu232Gln) c.211G>C (p.Glu71Gln) c.106G>C (p.Glu36Gln) | |
3 | g.122261729G>T | CA354151146 | CASR | c.694G>T (p.Glu232Ter) c.211G>T (p.Glu71Ter) c.106G>T (p.Glu36Ter) | |
3 | g.122261730A>C | CA354151147 | CASR | c.695A>C (p.Glu232Ala) c.212A>C (p.Glu71Ala) c.107A>C (p.Glu36Ala) | |
3 | g.122261730A>G | CA354151148 | CASR | c.695A>G (p.Glu232Gly) c.212A>G (p.Glu71Gly) c.107A>G (p.Glu36Gly) | COSMIC |
3 | g.122261730A>T | CA354151149 | CASR | c.695A>T (p.Glu232Val) c.212A>T (p.Glu71Val) c.107A>T (p.Glu36Val) | |
3 | g.122261731A>C | CA354151151 | CASR | c.696A>C (p.Glu232Asp) c.213A>C (p.Glu71Asp) c.108A>C (p.Glu36Asp) | |
3 | g.122261731A>G | CA435424241 | CASR | c.696A>G (p.Glu232=) c.213A>G (p.Glu71=) c.108A>G (p.Glu36=) | |
3 | g.122261731A>T | CA354151150 | CASR | c.696A>T (p.Glu232Asp) c.213A>T (p.Glu71Asp) c.108A>T (p.Glu36Asp) | |
3 | g.122261732A>C | CA435424242 | CASR | c.697A>C (p.Arg233=) c.214A>C (p.Arg72=) c.109A>C (p.Arg37=) | |
3 | g.122261732A>G | CA354151152 | CASR | c.697A>G (p.Arg233Gly) c.214A>G (p.Arg72Gly) c.109A>G (p.Arg37Gly) | |
3 | g.122261732A>T | CA354151153 | CASR | c.697A>T (p.Arg233Trp) c.214A>T (p.Arg72Trp) c.109A>T (p.Arg37Trp) | |
3 | g.122261733G>A | CA354151154 | CASR | c.698G>A (p.Arg233Lys) c.215G>A (p.Arg72Lys) c.110G>A (p.Arg37Lys) | |
3 | g.122261733G>C | CA354151155 | CASR | c.698G>C (p.Arg233Thr) c.215G>C (p.Arg72Thr) c.110G>C (p.Arg37Thr) | |
3 | g.122261733G>T | CA354151156 | CASR | c.698G>T (p.Arg233Met) c.215G>T (p.Arg72Met) c.110G>T (p.Arg37Met) | |
3 | g.122261733_122261734insACTTGAATTGATTCTTGTTGCTGA | CA2551792682 | CASR | c.698_699insACTTGAATTGATTCTTGTTGCTGA (p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu) c.215_216insACTTGAATTGATTCTTGTTGCTGA (p.Arg72_Asp73insLeuGluLeuIleLeuValAlaGlu) c.110_111insACTTGAATTGATTCTTGTTGCTGA (p.Arg37_Asp38insLeuGluLeuIleLeuValAlaGlu) | |
3 | g.122261734G>A | CA435424243 | CASR | c.699G>A (p.Arg233=) c.216G>A (p.Arg72=) c.111G>A (p.Arg37=) | ClinVar COSMIC |
3 | g.122261734G>C | CA354151157 | CASR | c.699G>C (p.Arg233Ser) c.216G>C (p.Arg72Ser) c.111G>C (p.Arg37Ser) | |
3 | g.122261734G>T | CA354151158 | CASR | c.699G>T (p.Arg233Ser) c.216G>T (p.Arg72Ser) c.111G>T (p.Arg37Ser) | |
3 | g.122261735G>A | CA354151161 | CASR | c.700G>A (p.Asp234Asn) c.217G>A (p.Asp73Asn) c.112G>A (p.Asp38Asn) | |
3 | g.122261735G>C | CA354151159 | CASR | c.700G>C (p.Asp234His) c.217G>C (p.Asp73His) c.112G>C (p.Asp38His) | |
3 | g.122261735G>T | CA354151160 | CASR | c.700G>T (p.Asp234Tyr) c.217G>T (p.Asp73Tyr) c.112G>T (p.Asp38Tyr) | gnomAD v4 |
3 | g.122261736A= | CA1397873021 | CASR | c.701A= (p.Asp234=) c.218A= (p.Asp73=) c.113A= (p.Asp38=) | |
3 | g.122261736A>C | CA354151162 | CASR | c.701A>C (p.Asp234Ala) c.218A>C (p.Asp73Ala) c.113A>C (p.Asp38Ala) | |
3 | g.122261736A>G | CA354151163 | CASR | c.701A>G (p.Asp234Gly) c.218A>G (p.Asp73Gly) c.113A>G (p.Asp38Gly) | gnomAD v4 |
3 | g.122261736A>T | CA354151164 | CASR | c.701A>T (p.Asp234Val) c.218A>T (p.Asp73Val) c.113A>T (p.Asp38Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261737T>A | CA354151165 | CASR | c.702T>A (p.Asp234Glu) c.219T>A (p.Asp73Glu) c.114T>A (p.Asp38Glu) | |
3 | g.122261737T>C | CA435424244 | CASR | c.702T>C (p.Asp234=) c.219T>C (p.Asp73=) c.114T>C (p.Asp38=) | |
3 | g.122261737T>G | CA354151166 | CASR | c.702T>G (p.Asp234Glu) c.219T>G (p.Asp73Glu) c.114T>G (p.Asp38Glu) | |
3 | g.122261738A>C | CA354151169 | CASR | c.703A>C (p.Ile235Leu) c.220A>C (p.Ile74Leu) c.115A>C (p.Ile39Leu) | |
3 | g.122261738A>G | CA354151167 | CASR | c.703A>G (p.Ile235Val) c.220A>G (p.Ile74Val) c.115A>G (p.Ile39Val) | ClinVar dbSNP |
3 | g.122261738A>T | CA354151168 | CASR | c.703A>T (p.Ile235Phe) c.220A>T (p.Ile74Phe) c.115A>T (p.Ile39Phe) | |
3 | g.122261739del | CA2586972802 | CASR | c.704del (p.Ile235ThrfsTer22) c.221del (p.Ile74ThrfsTer22) c.116del (p.Ile39ThrfsTer22) | |
3 | g.122261739T>A | CA354151170 | CASR | c.704T>A (p.Ile235Asn) c.221T>A (p.Ile74Asn) c.116T>A (p.Ile39Asn) | |
3 | g.122261739T>C | CA354151171 | CASR | c.704T>C (p.Ile235Thr) c.221T>C (p.Ile74Thr) c.116T>C (p.Ile39Thr) | |
3 | g.122261739T>G | CA354151172 | CASR | c.704T>G (p.Ile235Ser) c.221T>G (p.Ile74Ser) c.116T>G (p.Ile39Ser) | |
3 | g.122261740C>A | CA2569522 | CASR | c.705C>A (p.Ile235=) c.222C>A (p.Ile74=) c.117C>A (p.Ile39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261740C= | CA1397873023 | CASR | c.705C= (p.Ile235=) c.222C= (p.Ile74=) c.117C= (p.Ile39=) | |
3 | g.122261740C>G | CA2569523 | CASR | c.705C>G (p.Ile235Met) c.222C>G (p.Ile74Met) c.117C>G (p.Ile39Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261740C>T | CA435424245 | CASR | c.705C>T (p.Ile235=) c.222C>T (p.Ile74=) c.117C>T (p.Ile39=) | |
3 | g.122261742_122261750del | CA2586972803 | CASR | c.707_715del (p.Cys236_Asp238del) c.224_232del (p.Cys75_Asp77del) c.119_127del (p.Cys40_Asp42del) | |
3 | g.122261741T>A | CA354151173 | CASR | c.706T>A (p.Cys236Ser) c.223T>A (p.Cys75Ser) c.118T>A (p.Cys40Ser) | ClinVar |
3 | g.122261741T>C | CA354151174 | CASR | c.706T>C (p.Cys236Arg) c.223T>C (p.Cys75Arg) c.118T>C (p.Cys40Arg) | |
3 | g.122261741T>G | CA354151175 | CASR | c.706T>G (p.Cys236Gly) c.223T>G (p.Cys75Gly) c.118T>G (p.Cys40Gly) | |
3 | g.122261742G>A | CA16042472 | CASR | c.707G>A (p.Cys236Tyr) c.224G>A (p.Cys75Tyr) c.119G>A (p.Cys40Tyr) | ClinVar dbSNP |
3 | g.122261742G>C | CA354151176 | CASR | c.707G>C (p.Cys236Ser) c.224G>C (p.Cys75Ser) c.119G>C (p.Cys40Ser) | |
3 | g.122261742G= | CA1397873025 | CASR | c.707G= (p.Cys236=) c.224G= (p.Cys75=) c.119G= (p.Cys40=) | |
3 | g.122261742G>T | CA354151177 | CASR | c.707G>T (p.Cys236Phe) c.224G>T (p.Cys75Phe) c.119G>T (p.Cys40Phe) | ClinVar dbSNP |
3 | g.122261743C>A | CA354151178 | CASR | c.708C>A (p.Cys236Ter) c.225C>A (p.Cys75Ter) c.120C>A (p.Cys40Ter) | |
3 | g.122261743C>G | CA354151179 | CASR | c.708C>G (p.Cys236Trp) c.225C>G (p.Cys75Trp) c.120C>G (p.Cys40Trp) | |
3 | g.122261743C>T | CA435424246 | CASR | c.708C>T (p.Cys236=) c.225C>T (p.Cys75=) c.120C>T (p.Cys40=) | |
3 | g.122261744A>C | CA354151182 | CASR | c.709A>C (p.Ile237Leu) c.226A>C (p.Ile76Leu) c.121A>C (p.Ile41Leu) | |
3 | g.122261744A>G | CA354151180 | CASR | c.709A>G (p.Ile237Val) c.226A>G (p.Ile76Val) c.121A>G (p.Ile41Val) | |
3 | g.122261744A>T | CA354151181 | CASR | c.709A>T (p.Ile237Phe) c.226A>T (p.Ile76Phe) c.121A>T (p.Ile41Phe) | |
3 | g.122261745T>A | CA354151183 | CASR | c.710T>A (p.Ile237Asn) c.227T>A (p.Ile76Asn) c.122T>A (p.Ile41Asn) | |
3 | g.122261745T>C | CA354151184 | CASR | c.710T>C (p.Ile237Thr) c.227T>C (p.Ile76Thr) c.122T>C (p.Ile41Thr) | |
3 | g.122261745T>G | CA354151185 | CASR | c.710T>G (p.Ile237Ser) c.227T>G (p.Ile76Ser) c.122T>G (p.Ile41Ser) | |
3 | g.122261746C>A | CA435424247 | CASR | c.711C>A (p.Ile237=) c.228C>A (p.Ile76=) c.123C>A (p.Ile41=) | |
3 | g.122261746C= | CA1397873028 | CASR | c.711C= (p.Ile237=) c.228C= (p.Ile76=) c.123C= (p.Ile41=) | |
3 | g.122261746C>G | CA354151186 | CASR | c.711C>G (p.Ile237Met) c.228C>G (p.Ile76Met) c.123C>G (p.Ile41Met) | ClinVar |
3 | g.122261746C>T | CA2569524 | CASR | c.711C>T (p.Ile237=) c.228C>T (p.Ile76=) c.123C>T (p.Ile41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122261747G>A | CA2569525 | CASR | c.712G>A (p.Asp238Asn) c.229G>A (p.Asp77Asn) c.124G>A (p.Asp42Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261747G>C | CA354151187 | CASR | c.712G>C (p.Asp238His) c.229G>C (p.Asp77His) c.124G>C (p.Asp42His) | ClinVar dbSNP |
3 | g.122261747G= | CA1397873031 | CASR | c.712G= (p.Asp238=) c.229G= (p.Asp77=) c.124G= (p.Asp42=) | |
3 | g.122261747G>T | CA354151188 | CASR | c.712G>T (p.Asp238Tyr) c.229G>T (p.Asp77Tyr) c.124G>T (p.Asp42Tyr) | |
3 | g.122261748A>C | CA354151189 | CASR | c.713A>C (p.Asp238Ala) c.230A>C (p.Asp77Ala) c.125A>C (p.Asp42Ala) | |
3 | g.122261748A>G | CA354151190 | CASR | c.713A>G (p.Asp238Gly) c.230A>G (p.Asp77Gly) c.125A>G (p.Asp42Gly) | |
3 | g.122261748A>T | CA354151191 | CASR | c.713A>T (p.Asp238Val) c.230A>T (p.Asp77Val) c.125A>T (p.Asp42Val) | |
3 | g.122261749C>A | CA354151192 | CASR | c.714C>A (p.Asp238Glu) c.231C>A (p.Asp77Glu) c.126C>A (p.Asp42Glu) | |
3 | g.122261749C>G | CA354151193 | CASR | c.714C>G (p.Asp238Glu) c.231C>G (p.Asp77Glu) c.126C>G (p.Asp42Glu) | |
3 | g.122261749C>T | CA435424248 | CASR | c.714C>T (p.Asp238=) c.231C>T (p.Asp77=) c.126C>T (p.Asp42=) | ClinVar gnomAD v4 |
3 | g.122261750T>A | CA354151196 | CASR | c.715T>A (p.Phe239Ile) c.232T>A (p.Phe78Ile) c.127T>A (p.Phe43Ile) | |
3 | g.122261750T>C | CA354151195 | CASR | c.715T>C (p.Phe239Leu) c.232T>C (p.Phe78Leu) c.127T>C (p.Phe43Leu) | |
3 | g.122261750T>G | CA354151194 | CASR | c.715T>G (p.Phe239Val) c.232T>G (p.Phe78Val) c.127T>G (p.Phe43Val) | ClinVar |
3 | g.122261751T>A | CA354151197 | CASR | c.716T>A (p.Phe239Tyr) c.233T>A (p.Phe78Tyr) c.128T>A (p.Phe43Tyr) | |
3 | g.122261751T>C | CA354151198 | CASR | c.716T>C (p.Phe239Ser) c.233T>C (p.Phe78Ser) c.128T>C (p.Phe43Ser) | |
3 | g.122261751T>G | CA354151199 | CASR | c.716T>G (p.Phe239Cys) c.233T>G (p.Phe78Cys) c.128T>G (p.Phe43Cys) | |
3 | g.122261752C>A | CA354151200 | CASR | c.717C>A (p.Phe239Leu) c.234C>A (p.Phe78Leu) c.129C>A (p.Phe43Leu) | |
3 | g.122261752C>G | CA354151201 | CASR | c.717C>G (p.Phe239Leu) c.234C>G (p.Phe78Leu) c.129C>G (p.Phe43Leu) | |
3 | g.122261752C>T | CA435424249 | CASR | c.717C>T (p.Phe239=) c.234C>T (p.Phe78=) c.129C>T (p.Phe43=) | ClinVar dbSNP |
3 | g.122261753A= | CA1397873035 | CASR | c.718A= (p.Ser240=) c.235A= (p.Ser79=) c.130A= (p.Ser44=) | |
3 | g.122261753A>C | CA354151202 | CASR | c.718A>C (p.Ser240Arg) c.235A>C (p.Ser79Arg) c.130A>C (p.Ser44Arg) | |
3 | g.122261753A>G | CA82738383 | CASR | c.718A>G (p.Ser240Gly) c.235A>G (p.Ser79Gly) c.130A>G (p.Ser44Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.122261753A>T | CA354151203 | CASR | c.718A>T (p.Ser240Cys) c.235A>T (p.Ser79Cys) c.130A>T (p.Ser44Cys) | |
3 | g.122261754_122261758del | CA2845293494 | CASR | c.719_723del (p.Ser240ThrfsTer7) c.236_240del (p.Ser79ThrfsTer7) c.131_135del (p.Ser44ThrfsTer7) | |
3 | g.122261754G>A | CA354151204 | CASR | c.719G>A (p.Ser240Asn) c.236G>A (p.Ser79Asn) c.131G>A (p.Ser44Asn) | |
3 | g.122261754G>C | CA2569526 | CASR | c.719G>C (p.Ser240Thr) c.236G>C (p.Ser79Thr) c.131G>C (p.Ser44Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261754G= | CA1397873036 | CASR | c.719G= (p.Ser240=) c.236G= (p.Ser79=) c.131G= (p.Ser44=) | |
3 | g.122261754G>T | CA354151205 | CASR | c.719G>T (p.Ser240Ile) c.236G>T (p.Ser79Ile) c.131G>T (p.Ser44Ile) | |
3 | g.122261755T>A | CA354151206 | CASR | c.720T>A (p.Ser240Arg) c.237T>A (p.Ser79Arg) c.132T>A (p.Ser44Arg) | |
3 | g.122261755T>C | CA435424250 | CASR | c.720T>C (p.Ser240=) c.237T>C (p.Ser79=) c.132T>C (p.Ser44=) | ClinVar gnomAD v4 |
3 | g.122261755T>G | CA354151207 | CASR | c.720T>G (p.Ser240Arg) c.237T>G (p.Ser79Arg) c.132T>G (p.Ser44Arg) | |
3 | g.122261756del | CA2740094560 | CASR | c.721del (p.Glu241AsnfsTer16) c.238del (p.Glu80AsnfsTer16) c.133del (p.Glu45AsnfsTer16) | ClinVar |
3 | g.122261756G>A | CA354151209 | CASR | c.721G>A (p.Glu241Lys) c.238G>A (p.Glu80Lys) c.133G>A (p.Glu45Lys) | ClinVar dbSNP |
3 | g.122261756G>C | CA354151210 | CASR | c.721G>C (p.Glu241Gln) c.238G>C (p.Glu80Gln) c.133G>C (p.Glu45Gln) | |
3 | g.122261756G>T | CA354151208 | CASR | c.721G>T (p.Glu241Ter) c.238G>T (p.Glu80Ter) c.133G>T (p.Glu45Ter) | |
3 | g.122261757A>C | CA354151211 | CASR | c.722A>C (p.Glu241Ala) c.239A>C (p.Glu80Ala) c.134A>C (p.Glu45Ala) | |
3 | g.122261757A>G | CA354151213 | CASR | c.722A>G (p.Glu241Gly) c.239A>G (p.Glu80Gly) c.134A>G (p.Glu45Gly) | |
3 | g.122261757A>T | CA354151212 | CASR | c.722A>T (p.Glu241Val) c.239A>T (p.Glu80Val) c.134A>T (p.Glu45Val) | COSMIC |
3 | g.122261758A>C | CA354151214 | CASR | c.723A>C (p.Glu241Asp) c.240A>C (p.Glu80Asp) c.135A>C (p.Glu45Asp) | |
3 | g.122261758A>G | CA435424251 | CASR | c.723A>G (p.Glu241=) c.240A>G (p.Glu80=) c.135A>G (p.Glu45=) | gnomAD v4 |
3 | g.122261758A>T | CA354151215 | CASR | c.723A>T (p.Glu241Asp) c.240A>T (p.Glu80Asp) c.135A>T (p.Glu45Asp) | |
3 | g.122261759C>A | CA354151216 | CASR | c.724C>A (p.Leu242Ile) c.241C>A (p.Leu81Ile) c.136C>A (p.Leu46Ile) | |
3 | g.122261759C>G | CA354151217 | CASR | c.724C>G (p.Leu242Val) c.241C>G (p.Leu81Val) c.136C>G (p.Leu46Val) | |
3 | g.122261759C>T | CA354151218 | CASR | c.724C>T (p.Leu242Phe) c.241C>T (p.Leu81Phe) c.136C>T (p.Leu46Phe) | |
3 | g.122261760T>A | CA354151219 | CASR | c.725T>A (p.Leu242His) c.242T>A (p.Leu81His) c.137T>A (p.Leu46His) | |
3 | g.122261760T>C | CA354151220 | CASR | c.725T>C (p.Leu242Pro) c.242T>C (p.Leu81Pro) c.137T>C (p.Leu46Pro) | ClinVar dbSNP |
3 | g.122261760T>G | CA16617815 | CASR | c.725T>G (p.Leu242Arg) c.242T>G (p.Leu81Arg) c.137T>G (p.Leu46Arg) | ClinVar dbSNP |
3 | g.122261760T= | CA1397873038 | CASR | c.725T= (p.Leu242=) c.242T= (p.Leu81=) c.137T= (p.Leu46=) | |
3 | g.122261761C>A | CA435424252 | CASR | c.726C>A (p.Leu242=) c.243C>A (p.Leu81=) c.138C>A (p.Leu46=) | |
3 | g.122261761C= | CA1397873039 | CASR | c.726C= (p.Leu242=) c.243C= (p.Leu81=) c.138C= (p.Leu46=) | |
3 | g.122261761C>G | CA435424253 | CASR | c.726C>G (p.Leu242=) c.243C>G (p.Leu81=) c.138C>G (p.Leu46=) | |
3 | g.122261761C>T | CA435424254 | CASR | c.726C>T (p.Leu242=) c.243C>T (p.Leu81=) c.138C>T (p.Leu46=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261762A= | CA1397873040 | CASR | c.727A= (p.Ile243=) c.244A= (p.Ile82=) c.139A= (p.Ile47=) | |
3 | g.122261762A>C | CA354151221 | CASR | c.727A>C (p.Ile243Leu) c.244A>C (p.Ile82Leu) c.139A>C (p.Ile47Leu) | ClinVar dbSNP gnomAD v2 |
3 | g.122261762A>G | CA354151222 | CASR | c.727A>G (p.Ile243Val) c.244A>G (p.Ile82Val) c.139A>G (p.Ile47Val) | ClinVar |
3 | g.122261762A>T | CA354151223 | CASR | c.727A>T (p.Ile243Phe) c.244A>T (p.Ile82Phe) c.139A>T (p.Ile47Phe) | |
3 | g.122261763T>A | CA354151226 | CASR | c.728T>A (p.Ile243Asn) c.245T>A (p.Ile82Asn) c.140T>A (p.Ile47Asn) | |
3 | g.122261763T>C | CA354151225 | CASR | c.728T>C (p.Ile243Thr) c.245T>C (p.Ile82Thr) c.140T>C (p.Ile47Thr) | |
3 | g.122261763T>G | CA354151224 | CASR | c.728T>G (p.Ile243Ser) c.245T>G (p.Ile82Ser) c.140T>G (p.Ile47Ser) | |
3 | g.122261764C>A | CA435424267 | CASR | c.729C>A (p.Ile243=) c.246C>A (p.Ile82=) c.141C>A (p.Ile47=) | |
3 | g.122261764C>G | CA354151227 | CASR | c.729C>G (p.Ile243Met) c.246C>G (p.Ile82Met) c.141C>G (p.Ile47Met) | ClinVar |
3 | g.122261764C>T | CA435424265 | CASR | c.729C>T (p.Ile243=) c.246C>T (p.Ile82=) c.141C>T (p.Ile47=) | ClinVar dbSNP gnomAD v4 |
3 | g.122261765T>A | CA354151228 | CASR | c.730T>A (p.Ser244Thr) c.247T>A (p.Ser83Thr) c.142T>A (p.Ser48Thr) | |
3 | g.122261765T>C | CA354151229 | CASR | c.730T>C (p.Ser244Pro) c.247T>C (p.Ser83Pro) c.142T>C (p.Ser48Pro) | |
3 | g.122261765T>G | CA354151230 | CASR | c.730T>G (p.Ser244Ala) c.247T>G (p.Ser83Ala) c.142T>G (p.Ser48Ala) | |
3 | g.122261765_122261766delinsTC | CA1397873042 | CASR | c.730_731delinsTC (p.Ser244=) c.247_248delinsTC (p.Ser83=) c.142_143delinsTC (p.Ser48=) | |
3 | g.122261766C>A | CA354151231 | CASR | c.731C>A (p.Ser244Tyr) c.248C>A (p.Ser83Tyr) c.143C>A (p.Ser48Tyr) | |
3 | g.122261766C>G | CA354151232 | CASR | c.731C>G (p.Ser244Cys) c.248C>G (p.Ser83Cys) c.143C>G (p.Ser48Cys) | |
3 | g.122261766C>T | CA354151233 | CASR | c.731C>T (p.Ser244Phe) c.248C>T (p.Ser83Phe) c.143C>T (p.Ser48Phe) | COSMIC |
3 | g.122261768del | CA1397873043 | CASR | c.733del (p.Gln245SerfsTer12) c.250del (p.Gln84SerfsTer12) c.145del (p.Gln49SerfsTer12) | dbSNP |
3 | g.122261767C>A | CA435424271 | CASR | c.732C>A (p.Ser244=) c.249C>A (p.Ser83=) c.144C>A (p.Ser48=) | |
3 | g.122261767C= | CA1397873044 | CASR | c.732C= (p.Ser244=) c.249C= (p.Ser83=) c.144C= (p.Ser48=) | |
3 | g.122261767C>G | CA435424272 | CASR | c.732C>G (p.Ser244=) c.249C>G (p.Ser83=) c.144C>G (p.Ser48=) | COSMIC |
3 | g.122261767C>T | CA435424273 | CASR | c.732C>T (p.Ser244=) c.249C>T (p.Ser83=) c.144C>T (p.Ser48=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261768C>A | CA354151234 | CASR | c.733C>A (p.Gln245Lys) c.250C>A (p.Gln84Lys) c.145C>A (p.Gln49Lys) | COSMIC |
3 | g.122261768C= | CA1397873046 | CASR | c.733C= (p.Gln245=) c.250C= (p.Gln84=) c.145C= (p.Gln49=) | |
3 | g.122261768C>G | CA354151235 | CASR | c.733C>G (p.Gln245Glu) c.250C>G (p.Gln84Glu) c.145C>G (p.Gln49Glu) | |
3 | g.122261768C>T | CA354151236 | CASR | c.733C>T (p.Gln245Ter) c.250C>T (p.Gln84Ter) c.145C>T (p.Gln49Ter) | ClinVar dbSNP |
3 | g.122261769A>C | CA354151237 | CASR | c.734A>C (p.Gln245Pro) c.251A>C (p.Gln84Pro) c.146A>C (p.Gln49Pro) | gnomAD v4 |
3 | g.122261769A>G | CA354151238 | CASR | c.734A>G (p.Gln245Arg) c.251A>G (p.Gln84Arg) c.146A>G (p.Gln49Arg) | ClinVar |
3 | g.122261769A>T | CA354151239 | CASR | c.734A>T (p.Gln245Leu) c.251A>T (p.Gln84Leu) c.146A>T (p.Gln49Leu) | |
3 | g.122261770G>A | CA435424274 | CASR | c.735G>A (p.Gln245=) c.252G>A (p.Gln84=) c.147G>A (p.Gln49=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122261770G>C | CA354151240 | CASR | c.735G>C (p.Gln245His) c.252G>C (p.Gln84His) c.147G>C (p.Gln49His) | |
3 | g.122261770G= | CA1397873048 | CASR | c.735G= (p.Gln245=) c.252G= (p.Gln84=) c.147G= (p.Gln49=) | |
3 | g.122261770G>T | CA354151241 | CASR | c.735G>T (p.Gln245His) c.252G>T (p.Gln84His) c.147G>T (p.Gln49His) | |
3 | g.122261771T>A | CA354151242 | CASR | c.736T>A (p.Tyr246Asn) c.253T>A (p.Tyr85Asn) c.148T>A (p.Tyr50Asn) | |
3 | g.122261771T>C | CA354151243 | CASR | c.736T>C (p.Tyr246His) c.253T>C (p.Tyr85His) c.148T>C (p.Tyr50His) | |
3 | g.122261771T>G | CA354151244 | CASR | c.736T>G (p.Tyr246Asp) c.253T>G (p.Tyr85Asp) c.148T>G (p.Tyr50Asp) | |
3 | g.122261772A>C | CA354151245 | CASR | c.737A>C (p.Tyr246Ser) c.254A>C (p.Tyr85Ser) c.149A>C (p.Tyr50Ser) | |
3 | g.122261772A>G | CA354151246 | CASR | c.737A>G (p.Tyr246Cys) c.254A>G (p.Tyr85Cys) c.149A>G (p.Tyr50Cys) | |
3 | g.122261772A>T | CA354151247 | CASR | c.737A>T (p.Tyr246Phe) c.254A>T (p.Tyr85Phe) c.149A>T (p.Tyr50Phe) | |
3 | g.122261773C>A | CA354151248 | CASR | c.738C>A (p.Tyr246Ter) c.255C>A (p.Tyr85Ter) c.150C>A (p.Tyr50Ter) | |
3 | g.122261773C= | CA1397873050 | CASR | c.738C= (p.Tyr246=) c.255C= (p.Tyr85=) c.150C= (p.Tyr50=) | |
3 | g.122261773C>G | CA82738393 | CASR | c.738C>G (p.Tyr246Ter) c.255C>G (p.Tyr85Ter) c.150C>G (p.Tyr50Ter) | dbSNP |
3 | g.122261773C>T | CA82738398 | CASR | c.738C>T (p.Tyr246=) c.255C>T (p.Tyr85=) c.150C>T (p.Tyr50=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261774T>A | CA354151249 | CASR | c.739T>A (p.Ser247Thr) c.256T>A (p.Ser86Thr) c.151T>A (p.Ser51Thr) | |
3 | g.122261774T>C | CA82738406 | CASR | c.739T>C (p.Ser247Pro) c.256T>C (p.Ser86Pro) c.151T>C (p.Ser51Pro) | dbSNP gnomAD v4 |
3 | g.122261774T>G | CA354151250 | CASR | c.739T>G (p.Ser247Ala) c.256T>G (p.Ser86Ala) c.151T>G (p.Ser51Ala) | |
3 | g.122261774T= | CA1397873053 | CASR | c.739T= (p.Ser247=) c.256T= (p.Ser86=) c.151T= (p.Ser51=) | |
3 | g.122261775C>A | CA354151251 | CASR | c.740C>A (p.Ser247Tyr) c.257C>A (p.Ser86Tyr) c.152C>A (p.Ser51Tyr) | |
3 | g.122261775C= | CA1397873055 | CASR | c.740C= (p.Ser247=) c.257C= (p.Ser86=) c.152C= (p.Ser51=) | |
3 | g.122261775C>G | CA354151252 | CASR | c.740C>G (p.Ser247Cys) c.257C>G (p.Ser86Cys) c.152C>G (p.Ser51Cys) | |
3 | g.122261775C>T | CA216140 | CASR | c.740C>T (p.Ser247Phe) c.257C>T (p.Ser86Phe) c.152C>T (p.Ser51Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261776T>A | CA435424279 | CASR | c.741T>A (p.Ser247=) c.258T>A (p.Ser86=) c.153T>A (p.Ser51=) | |
3 | g.122261776T>C | CA435424280 | CASR | c.741T>C (p.Ser247=) c.258T>C (p.Ser86=) c.153T>C (p.Ser51=) | |
3 | g.122261776T>G | CA435424281 | CASR | c.741T>G (p.Ser247=) c.258T>G (p.Ser86=) c.153T>G (p.Ser51=) | |
3 | g.122261776dup | CA2586972804 | CASR | c.741dup (p.Asp248Ter) c.258dup (p.Asp87Ter) c.153dup (p.Asp52Ter) | ClinVar gnomAD v4 |
3 | g.122261777G>A | CA354151253 | CASR | c.742G>A (p.Asp248Asn) c.259G>A (p.Asp87Asn) c.154G>A (p.Asp52Asn) | gnomAD v4 COSMIC |
3 | g.122261777G>C | CA354151255 | CASR | c.742G>C (p.Asp248His) c.259G>C (p.Asp87His) c.154G>C (p.Asp52His) | COSMIC |
3 | g.122261777G>T | CA354151254 | CASR | c.742G>T (p.Asp248Tyr) c.259G>T (p.Asp87Tyr) c.154G>T (p.Asp52Tyr) | |
3 | g.122261778A>C | CA354151256 | CASR | c.743A>C (p.Asp248Ala) c.260A>C (p.Asp87Ala) c.155A>C (p.Asp52Ala) | |
3 | g.122261778A>G | CA354151257 | CASR | c.743A>G (p.Asp248Gly) c.260A>G (p.Asp87Gly) c.155A>G (p.Asp52Gly) | |
3 | g.122261778A>T | CA354151258 | CASR | c.743A>T (p.Asp248Val) c.260A>T (p.Asp87Val) c.155A>T (p.Asp52Val) | |
3 | g.122261779T>A | CA354151259 | CASR | c.744T>A (p.Asp248Glu) c.261T>A (p.Asp87Glu) c.156T>A (p.Asp52Glu) | gnomAD v4 |
3 | g.122261779T>C | CA435424285 | CASR | c.744T>C (p.Asp248=) c.261T>C (p.Asp87=) c.156T>C (p.Asp52=) | |
3 | g.122261779T>G | CA354151260 | CASR | c.744T>G (p.Asp248Glu) c.261T>G (p.Asp87Glu) c.156T>G (p.Asp52Glu) | |
3 | g.122261779_122261782delinsTGAG | CA1397873057 | CASR | c.744_747delinsTGAG (p.Asp248=) c.261_264delinsTGAG (p.Asp87=) c.156_159delinsTGAG (p.Asp52=) | |
3 | g.122261780G>A | CA354151261 | CASR | c.745G>A (p.Glu249Lys) c.262G>A (p.Glu88Lys) c.157G>A (p.Glu53Lys) | |
3 | g.122261780G>C | CA354151262 | CASR | c.745G>C (p.Glu249Gln) c.262G>C (p.Glu88Gln) c.157G>C (p.Glu53Gln) | |
3 | g.122261780G>T | CA354151263 | CASR | c.745G>T (p.Glu249Ter) c.262G>T (p.Glu88Ter) c.157G>T (p.Glu53Ter) | |
3 | g.122261782_122261784del | CA1397873058 | CASR | c.747_749del (p.Glu250del) c.264_266del (p.Glu89del) c.159_161del (p.Glu54del) | ClinVar dbSNP |
3 | g.122261781A>C | CA354151264 | CASR | c.746A>C (p.Glu249Ala) c.263A>C (p.Glu88Ala) c.158A>C (p.Glu53Ala) | |
3 | g.122261781A>G | CA354151265 | CASR | c.746A>G (p.Glu249Gly) c.263A>G (p.Glu88Gly) c.158A>G (p.Glu53Gly) | |
3 | g.122261781A>T | CA354151266 | CASR | c.746A>T (p.Glu249Val) c.263A>T (p.Glu88Val) c.158A>T (p.Glu53Val) | ClinVar |