Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |