UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | 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 |
| 3 | g.122261782G>A | CA2569527 | CASR | c.747G>A (p.Glu249=) c.264G>A (p.Glu88=) c.159G>A (p.Glu53=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261782G>C | CA354151268 | CASR | c.747G>C (p.Glu249Asp) c.264G>C (p.Glu88Asp) c.159G>C (p.Glu53Asp) | |
| 3 | g.122261782G= | CA1397873059 | CASR | c.747G= (p.Glu249=) c.264G= (p.Glu88=) c.159G= (p.Glu53=) | |
| 3 | g.122261782G>T | CA354151267 | CASR | c.747G>T (p.Glu249Asp) c.264G>T (p.Glu88Asp) c.159G>T (p.Glu53Asp) | |
| 3 | g.122261783G>A | CA202250 | CASR | c.748G>A (p.Glu250Lys) c.265G>A (p.Glu89Lys) c.160G>A (p.Glu54Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261783G>C | CA354151270 | CASR | c.748G>C (p.Glu250Gln) c.265G>C (p.Glu89Gln) c.160G>C (p.Glu54Gln) | |
| 3 | g.122261783G= | CA1397873061 | CASR | c.748G= (p.Glu250=) c.265G= (p.Glu89=) c.160G= (p.Glu54=) | |
| 3 | g.122261783G>T | CA354151269 | CASR | c.748G>T (p.Glu250Ter) c.265G>T (p.Glu89Ter) c.160G>T (p.Glu54Ter) | |
| 3 | g.122261784A= | CA1397873064 | CASR | c.749A= (p.Glu250=) c.266A= (p.Glu89=) c.161A= (p.Glu54=) | |
| 3 | g.122261784A>C | CA354151271 | CASR | c.749A>C (p.Glu250Ala) c.266A>C (p.Glu89Ala) c.161A>C (p.Glu54Ala) | |
| 3 | g.122261784A>G | CA354151272 | CASR | c.749A>G (p.Glu250Gly) c.266A>G (p.Glu89Gly) c.161A>G (p.Glu54Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261784A>T | CA354151273 | CASR | c.749A>T (p.Glu250Val) c.266A>T (p.Glu89Val) c.161A>T (p.Glu54Val) | |
| 3 | g.122261785A>C | CA354151274 | CASR | c.750A>C (p.Glu250Asp) c.267A>C (p.Glu89Asp) c.162A>C (p.Glu54Asp) | ClinVar gnomAD v3 gnomAD v4 |
| 3 | g.122261785A>G | CA435424287 | CASR | c.750A>G (p.Glu250=) c.267A>G (p.Glu89=) c.162A>G (p.Glu54=) | |
| 3 | g.122261785A>T | CA354151275 | CASR | c.750A>T (p.Glu250Asp) c.267A>T (p.Glu89Asp) c.162A>T (p.Glu54Asp) | |
| 3 | g.122261786G>A | CA354151276 | CASR | c.751G>A (p.Glu251Lys) c.268G>A (p.Glu90Lys) c.163G>A (p.Glu55Lys) | gnomAD v4 |
| 3 | g.122261786G>C | CA16611086 | CASR | c.751G>C (p.Glu251Gln) c.268G>C (p.Glu90Gln) c.163G>C (p.Glu55Gln) | ClinVar dbSNP |
| 3 | g.122261786G= | CA1397873066 | CASR | c.751G= (p.Glu251=) c.268G= (p.Glu90=) c.163G= (p.Glu55=) | |
| 3 | g.122261786G>T | CA354151277 | CASR | c.751G>T (p.Glu251Ter) c.268G>T (p.Glu90Ter) c.163G>T (p.Glu55Ter) | |
| 3 | g.122261786_122261790del | CA2522536752 | CASR | c.751_755del (p.Glu251ProfsTer25) c.268_272del (p.Glu90ProfsTer25) c.163_167del (p.Glu55ProfsTer25) | |
| 3 | g.122261787A= | CA1397873069 | CASR | c.752A= (p.Glu251=) c.269A= (p.Glu90=) c.164A= (p.Glu55=) | |
| 3 | g.122261787A>C | CA354151278 | CASR | c.752A>C (p.Glu251Ala) c.269A>C (p.Glu90Ala) c.164A>C (p.Glu55Ala) | |
| 3 | g.122261787A>G | CA2569528 | CASR | c.752A>G (p.Glu251Gly) c.269A>G (p.Glu90Gly) c.164A>G (p.Glu55Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261787A>T | CA354151279 | CASR | c.752A>T (p.Glu251Val) c.269A>T (p.Glu90Val) c.164A>T (p.Glu55Val) | |
| 3 | g.122261788G>A | CA435424290 | CASR | c.753G>A (p.Glu251=) c.270G>A (p.Glu90=) c.165G>A (p.Glu55=) | ClinVar gnomAD v4 COSMIC |
| 3 | g.122261788G>C | CA354151280 | CASR | c.753G>C (p.Glu251Asp) c.270G>C (p.Glu90Asp) c.165G>C (p.Glu55Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261788G= | CA1397873071 | CASR | c.753G= (p.Glu251=) c.270G= (p.Glu90=) c.165G= (p.Glu55=) | |
| 3 | g.122261788G>T | CA354151281 | CASR | c.753G>T (p.Glu251Asp) c.270G>T (p.Glu90Asp) c.165G>T (p.Glu55Asp) | |
| 3 | g.122261789A>C | CA354151284 | CASR | c.754A>C (p.Ile252Leu) c.271A>C (p.Ile91Leu) c.166A>C (p.Ile56Leu) | |
| 3 | g.122261789A>G | CA354151283 | CASR | c.754A>G (p.Ile252Val) c.271A>G (p.Ile91Val) c.166A>G (p.Ile56Val) | ClinVar dbSNP |
| 3 | g.122261789A>T | CA354151282 | CASR | c.754A>T (p.Ile252Phe) c.271A>T (p.Ile91Phe) c.166A>T (p.Ile56Phe) | ClinVar |
| 3 | g.122261790T>A | CA354151285 | CASR | c.755T>A (p.Ile252Asn) c.272T>A (p.Ile91Asn) c.167T>A (p.Ile56Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261790T>C | CA354151286 | CASR | c.755T>C (p.Ile252Thr) c.272T>C (p.Ile91Thr) c.167T>C (p.Ile56Thr) | |
| 3 | g.122261790T>G | CA354151287 | CASR | c.755T>G (p.Ile252Ser) c.272T>G (p.Ile91Ser) c.167T>G (p.Ile56Ser) | |
| 3 | g.122261790T= | CA1397873074 | CASR | c.755T= (p.Ile252=) c.272T= (p.Ile91=) c.167T= (p.Ile56=) | |
| 3 | g.122261791C>A | CA435424293 | CASR | c.756C>A (p.Ile252=) c.273C>A (p.Ile91=) c.168C>A (p.Ile56=) | ClinVar dbSNP |
| 3 | g.122261791C= | CA1397873075 | CASR | c.756C= (p.Ile252=) c.273C= (p.Ile91=) c.168C= (p.Ile56=) | |
| 3 | g.122261791C>G | CA354151288 | CASR | c.756C>G (p.Ile252Met) c.273C>G (p.Ile91Met) c.168C>G (p.Ile56Met) | ClinVar |
| 3 | g.122261791C>T | CA82738476 | CASR | c.756C>T (p.Ile252=) c.273C>T (p.Ile91=) c.168C>T (p.Ile56=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261792C>A | CA2569529 | CASR | c.757C>A (p.Gln253Lys) c.274C>A (p.Gln92Lys) c.169C>A (p.Gln57Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261792C= | CA1397873078 | CASR | c.757C= (p.Gln253=) c.274C= (p.Gln92=) c.169C= (p.Gln57=) | |
| 3 | g.122261792C>G | CA354151289 | CASR | c.757C>G (p.Gln253Glu) c.274C>G (p.Gln92Glu) c.169C>G (p.Gln57Glu) | |
| 3 | g.122261792C>T | CA354151290 | CASR | c.757C>T (p.Gln253Ter) c.274C>T (p.Gln92Ter) c.169C>T (p.Gln57Ter) | gnomAD v4 |
| 3 | g.122261793A= | CA1397873080 | CASR | c.758A= (p.Gln253=) c.275A= (p.Gln92=) c.170A= (p.Gln57=) | |
| 3 | g.122261793A>C | CA354151291 | CASR | c.758A>C (p.Gln253Pro) c.275A>C (p.Gln92Pro) c.170A>C (p.Gln57Pro) | |
| 3 | g.122261793A>G | CA354151292 | CASR | c.758A>G (p.Gln253Arg) c.275A>G (p.Gln92Arg) c.170A>G (p.Gln57Arg) | |
| 3 | g.122261793A>T | CA2569530 | CASR | c.758A>T (p.Gln253Leu) c.275A>T (p.Gln92Leu) c.170A>T (p.Gln57Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261794G>A | CA435424297 | CASR | c.759G>A (p.Gln253=) c.276G>A (p.Gln92=) c.171G>A (p.Gln57=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122261794G>C | CA354151293 | CASR | c.759G>C (p.Gln253His) c.276G>C (p.Gln92His) c.171G>C (p.Gln57His) | dbSNP |
| 3 | g.122261794G= | CA1397873082 | CASR | c.759G= (p.Gln253=) c.276G= (p.Gln92=) c.171G= (p.Gln57=) | |
| 3 | g.122261794G>T | CA354151294 | CASR | c.759G>T (p.Gln253His) c.276G>T (p.Gln92His) c.171G>T (p.Gln57His) | |
| 3 | g.122261795C>A | CA354151296 | CASR | c.760C>A (p.His254Asn) c.277C>A (p.His93Asn) c.172C>A (p.His58Asn) | |
| 3 | g.122261795C>G | CA354151297 | CASR | c.760C>G (p.His254Asp) c.277C>G (p.His93Asp) c.172C>G (p.His58Asp) | |
| 3 | g.122261795C>T | CA354151295 | CASR | c.760C>T (p.His254Tyr) c.277C>T (p.His93Tyr) c.172C>T (p.His58Tyr) | |
| 3 | g.122261796A>C | CA354151298 | CASR | c.761A>C (p.His254Pro) c.278A>C (p.His93Pro) c.173A>C (p.His58Pro) | |
| 3 | g.122261796A>G | CA354151299 | CASR | c.761A>G (p.His254Arg) c.278A>G (p.His93Arg) c.173A>G (p.His58Arg) | |
| 3 | g.122261796A>T | CA354151300 | CASR | c.761A>T (p.His254Leu) c.278A>T (p.His93Leu) c.173A>T (p.His58Leu) | |
| 3 | g.122261797T>A | CA354151301 | CASR | c.762T>A (p.His254Gln) c.279T>A (p.His93Gln) c.174T>A (p.His58Gln) | |
| 3 | g.122261797T>C | CA2569531 | CASR | c.762T>C (p.His254=) c.279T>C (p.His93=) c.174T>C (p.His58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261797T>G | CA354151302 | CASR | c.762T>G (p.His254Gln) c.279T>G (p.His93Gln) c.174T>G (p.His58Gln) | |
| 3 | g.122261797T= | CA1397873084 | CASR | c.762T= (p.His254=) c.279T= (p.His93=) c.174T= (p.His58=) | |
| 3 | g.122261798G>A | CA354151303 | CASR | c.763G>A (p.Val255Met) c.280G>A (p.Val94Met) c.175G>A (p.Val59Met) | |
| 3 | g.122261798G>C | CA354151304 | CASR | c.763G>C (p.Val255Leu) c.280G>C (p.Val94Leu) c.175G>C (p.Val59Leu) | |
| 3 | g.122261798G>T | CA354151305 | CASR | c.763G>T (p.Val255Leu) c.280G>T (p.Val94Leu) c.175G>T (p.Val59Leu) | gnomAD v4 |
| 3 | g.122261799T>A | CA354151306 | CASR | c.764T>A (p.Val255Glu) c.281T>A (p.Val94Glu) c.176T>A (p.Val59Glu) | |
| 3 | g.122261799T>C | CA354151307 | CASR | c.764T>C (p.Val255Ala) c.281T>C (p.Val94Ala) c.176T>C (p.Val59Ala) | |
| 3 | g.122261799T>G | CA354151308 | CASR | c.764T>G (p.Val255Gly) c.281T>G (p.Val94Gly) c.176T>G (p.Val59Gly) | |
| 3 | g.122261800G>A | CA435424308 | CASR | c.765G>A (p.Val255=) c.282G>A (p.Val94=) c.177G>A (p.Val59=) | ClinVar dbSNP |
| 3 | g.122261800G>C | CA435424309 | CASR | c.765G>C (p.Val255=) c.282G>C (p.Val94=) c.177G>C (p.Val59=) | |
| 3 | g.122261800G>T | CA435424310 | CASR | c.765G>T (p.Val255=) c.282G>T (p.Val94=) c.177G>T (p.Val59=) | |
| 3 | g.122261801G>A | CA354151311 | CASR | c.766G>A (p.Val256Ile) c.283G>A (p.Val95Ile) c.178G>A (p.Val60Ile) | ClinVar gnomAD v4 |
| 3 | g.122261801G>C | CA354151309 | CASR | c.766G>C (p.Val256Leu) c.283G>C (p.Val95Leu) c.178G>C (p.Val60Leu) | |
| 3 | g.122261801G>T | CA354151310 | CASR | c.766G>T (p.Val256Leu) c.283G>T (p.Val95Leu) c.178G>T (p.Val60Leu) | |
| 3 | g.122261802T>A | CA354151312 | CASR | c.767T>A (p.Val256Glu) c.284T>A (p.Val95Glu) c.179T>A (p.Val60Glu) | |
| 3 | g.122261802T>C | CA354151313 | CASR | c.767T>C (p.Val256Ala) c.284T>C (p.Val95Ala) c.179T>C (p.Val60Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261802T>G | CA354151314 | CASR | c.767T>G (p.Val256Gly) c.284T>G (p.Val95Gly) c.179T>G (p.Val60Gly) | |
| 3 | g.122261802T= | CA1397873086 | CASR | c.767T= (p.Val256=) c.284T= (p.Val95=) c.179T= (p.Val60=) | |
| 3 | g.122261803A>C | CA435424319 | CASR | c.768A>C (p.Val256=) c.285A>C (p.Val95=) c.180A>C (p.Val60=) | |
| 3 | g.122261803A>G | CA435424321 | CASR | c.768A>G (p.Val256=) c.285A>G (p.Val95=) c.180A>G (p.Val60=) | dbSNP |
| 3 | g.122261803A>T | CA435424322 | CASR | c.768A>T (p.Val256=) c.285A>T (p.Val95=) c.180A>T (p.Val60=) | |
| 3 | g.122261804G>A | CA354151315 | CASR | c.769G>A (p.Glu257Lys) c.286G>A (p.Glu96Lys) c.181G>A (p.Glu61Lys) | |
| 3 | g.122261804G>C | CA354151316 | CASR | c.769G>C (p.Glu257Gln) c.286G>C (p.Glu96Gln) c.181G>C (p.Glu61Gln) | |
| 3 | g.122261804G>T | CA354151317 | CASR | c.769G>T (p.Glu257Ter) c.286G>T (p.Glu96Ter) c.181G>T (p.Glu61Ter) | |
| 3 | g.122261805A= | CA1397873087 | CASR | c.770A= (p.Glu257=) c.287A= (p.Glu96=) c.182A= (p.Glu61=) | |
| 3 | g.122261805A>C | CA354151318 | CASR | c.770A>C (p.Glu257Ala) c.287A>C (p.Glu96Ala) c.182A>C (p.Glu61Ala) | |
| 3 | g.122261805A>G | CA2569532 | CASR | c.770A>G (p.Glu257Gly) c.287A>G (p.Glu96Gly) c.182A>G (p.Glu61Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261805A>T | CA354151319 | CASR | c.770A>T (p.Glu257Val) c.287A>T (p.Glu96Val) c.182A>T (p.Glu61Val) | |
| 3 | g.122261806G>A | CA435424329 | CASR | c.771G>A (p.Glu257=) c.288G>A (p.Glu96=) c.183G>A (p.Glu61=) | |
| 3 | g.122261806G>C | CA354151320 | CASR | c.771G>C (p.Glu257Asp) c.288G>C (p.Glu96Asp) c.183G>C (p.Glu61Asp) | |
| 3 | g.122261806G>T | CA354151321 | CASR | c.771G>T (p.Glu257Asp) c.288G>T (p.Glu96Asp) c.183G>T (p.Glu61Asp) | |
| 3 | g.122261807G>A | CA354151324 | CASR | c.772G>A (p.Val258Met) c.289G>A (p.Val97Met) c.184G>A (p.Val62Met) | |
| 3 | g.122261807G>C | CA354151323 | CASR | c.772G>C (p.Val258Leu) c.289G>C (p.Val97Leu) c.184G>C (p.Val62Leu) | |
| 3 | g.122261807G>T | CA354151322 | CASR | c.772G>T (p.Val258Leu) c.289G>T (p.Val97Leu) c.184G>T (p.Val62Leu) | |
| 3 | g.122261807_122261808delinsA | CA2580068638 | CASR | c.772_773delinsA (p.Val258ArgfsTer?) c.289_290delinsA (p.Val97ArgfsTer?) c.184_185delinsA (p.Val62ArgfsTer?) | ClinVar |
| 3 | g.122261808T>A | CA354151325 | CASR | c.773T>A (p.Val258Glu) c.290T>A (p.Val97Glu) c.185T>A (p.Val62Glu) | gnomAD v4 |
| 3 | g.122261808T>C | CA2569533 | CASR | c.773T>C (p.Val258Ala) c.290T>C (p.Val97Ala) c.185T>C (p.Val62Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261808T>G | CA354151326 | CASR | c.773T>G (p.Val258Gly) c.290T>G (p.Val97Gly) c.185T>G (p.Val62Gly) | |
| 3 | g.122261808T= | CA1397873089 | CASR | c.773T= (p.Val258=) c.290T= (p.Val97=) c.185T= (p.Val62=) | |
| 3 | g.122261809G>A | CA435424339 | CASR | c.774G>A (p.Val258=) c.291G>A (p.Val97=) c.186G>A (p.Val62=) | |
| 3 | g.122261809G>C | CA435424340 | CASR | c.774G>C (p.Val258=) c.291G>C (p.Val97=) c.186G>C (p.Val62=) | |
| 3 | g.122261809G>T | CA435424341 | CASR | c.774G>T (p.Val258=) c.291G>T (p.Val97=) c.186G>T (p.Val62=) | |
| 3 | g.122261810A>C | CA354151327 | CASR | c.775A>C (p.Ile259Leu) c.292A>C (p.Ile98Leu) c.187A>C (p.Ile63Leu) | |
| 3 | g.122261810A>G | CA354151328 | CASR | c.775A>G (p.Ile259Val) c.292A>G (p.Ile98Val) c.187A>G (p.Ile63Val) | |
| 3 | g.122261810A>T | CA354151329 | CASR | c.775A>T (p.Ile259Phe) c.292A>T (p.Ile98Phe) c.187A>T (p.Ile63Phe) | |
| 3 | g.122261811T>A | CA354151330 | CASR | c.776T>A (p.Ile259Asn) c.293T>A (p.Ile98Asn) c.188T>A (p.Ile63Asn) | |
| 3 | g.122261811T>C | CA354151331 | CASR | c.776T>C (p.Ile259Thr) c.293T>C (p.Ile98Thr) c.188T>C (p.Ile63Thr) | ClinVar dbSNP gnomAD v2 |
| 3 | g.122261811T>G | CA354151332 | CASR | c.776T>G (p.Ile259Ser) c.293T>G (p.Ile98Ser) c.188T>G (p.Ile63Ser) | |
| 3 | g.122261811T= | CA1397873091 | CASR | c.776T= (p.Ile259=) c.293T= (p.Ile98=) c.188T= (p.Ile63=) | |
| 3 | g.122261812T>A | CA435424347 | CASR | c.777T>A (p.Ile259=) c.294T>A (p.Ile98=) c.189T>A (p.Ile63=) | |
| 3 | g.122261812T>C | CA435424348 | CASR | c.777T>C (p.Ile259=) c.294T>C (p.Ile98=) c.189T>C (p.Ile63=) | |
| 3 | g.122261812T>G | CA354151333 | CASR | c.777T>G (p.Ile259Met) c.294T>G (p.Ile98Met) c.189T>G (p.Ile63Met) | |
| 3 | g.122261813C>A | CA354151334 | CASR | c.778C>A (p.Gln260Lys) c.295C>A (p.Gln99Lys) c.190C>A (p.Gln64Lys) | |
| 3 | g.122261813C= | CA1397873092 | CASR | c.778C= (p.Gln260=) c.295C= (p.Gln99=) c.190C= (p.Gln64=) | |
| 3 | g.122261813C>G | CA354151335 | CASR | c.778C>G (p.Gln260Glu) c.295C>G (p.Gln99Glu) c.190C>G (p.Gln64Glu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261813C>T | CA354151336 | CASR | c.778C>T (p.Gln260Ter) c.295C>T (p.Gln99Ter) c.190C>T (p.Gln64Ter) | |
| 3 | g.122261814A= | CA1397873095 | CASR | c.779A= (p.Gln260=) c.296A= (p.Gln99=) c.191A= (p.Gln64=) | |
| 3 | g.122261814A>C | CA354151337 | CASR | c.779A>C (p.Gln260Pro) c.296A>C (p.Gln99Pro) c.191A>C (p.Gln64Pro) | |
| 3 | g.122261814A>G | CA2569534 | CASR | c.779A>G (p.Gln260Arg) c.296A>G (p.Gln99Arg) c.191A>G (p.Gln64Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261814A>T | CA354151338 | CASR | c.779A>T (p.Gln260Leu) c.296A>T (p.Gln99Leu) c.191A>T (p.Gln64Leu) | |
| 3 | g.122261815A= | CA1397873097 | CASR | c.780A= (p.Gln260=) c.297A= (p.Gln99=) c.192A= (p.Gln64=) | |
| 3 | g.122261815A>C | CA354151339 | CASR | c.780A>C (p.Gln260His) c.297A>C (p.Gln99His) c.192A>C (p.Gln64His) | |
| 3 | g.122261815A>G | CA16611290 | CASR | c.780A>G (p.Gln260=) c.297A>G (p.Gln99=) c.192A>G (p.Gln64=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261815A>T | CA354151340 | CASR | c.780A>T (p.Gln260His) c.297A>T (p.Gln99His) c.192A>T (p.Gln64His) | |
| 3 | g.122261816A>C | CA354151341 | CASR | c.781A>C (p.Asn261His) c.298A>C (p.Asn100His) c.193A>C (p.Asn65His) | |
| 3 | g.122261816A>G | CA354151342 | CASR | c.781A>G (p.Asn261Asp) c.298A>G (p.Asn100Asp) c.193A>G (p.Asn65Asp) | |
| 3 | g.122261816A>T | CA354151343 | CASR | c.781A>T (p.Asn261Tyr) c.298A>T (p.Asn100Tyr) c.193A>T (p.Asn65Tyr) | |
| 3 | g.122261817A= | CA1397873099 | CASR | c.782A= (p.Asn261=) c.299A= (p.Asn100=) c.194A= (p.Asn65=) | |
| 3 | g.122261817A>C | CA354151344 | CASR | c.782A>C (p.Asn261Thr) c.299A>C (p.Asn100Thr) c.194A>C (p.Asn65Thr) | ClinVar dbSNP |
| 3 | g.122261817A>G | CA354151345 | CASR | c.782A>G (p.Asn261Ser) c.299A>G (p.Asn100Ser) c.194A>G (p.Asn65Ser) | |
| 3 | g.122261817A>T | CA354151346 | CASR | c.782A>T (p.Asn261Ile) c.299A>T (p.Asn100Ile) c.194A>T (p.Asn65Ile) | |
| 3 | g.122261818T>A | CA354151347 | CASR | c.783T>A (p.Asn261Lys) c.300T>A (p.Asn100Lys) c.195T>A (p.Asn65Lys) | |
| 3 | g.122261818T>C | CA435424356 | CASR | c.783T>C (p.Asn261=) c.300T>C (p.Asn100=) c.195T>C (p.Asn65=) | ClinVar dbSNP |
| 3 | g.122261818T>G | CA354151348 | CASR | c.783T>G (p.Asn261Lys) c.300T>G (p.Asn100Lys) c.195T>G (p.Asn65Lys) | |
| 3 | g.122261818T= | CA1397873100 | CASR | c.783T= (p.Asn261=) c.300T= (p.Asn100=) c.195T= (p.Asn65=) | |
| 3 | g.122261819T>A | CA354151349 | CASR | c.784T>A (p.Ser262Thr) c.301T>A (p.Ser101Thr) c.196T>A (p.Ser66Thr) | |
| 3 | g.122261819T>C | CA354151350 | CASR | c.784T>C (p.Ser262Pro) c.301T>C (p.Ser101Pro) c.196T>C (p.Ser66Pro) | |
| 3 | g.122261819T>G | CA354151351 | CASR | c.784T>G (p.Ser262Ala) c.301T>G (p.Ser101Ala) c.196T>G (p.Ser66Ala) | |
| 3 | g.122261820C>A | CA354151353 | CASR | c.785C>A (p.Ser262Tyr) c.302C>A (p.Ser101Tyr) c.197C>A (p.Ser66Tyr) | |
| 3 | g.122261820C>G | CA354151354 | CASR | c.785C>G (p.Ser262Cys) c.302C>G (p.Ser101Cys) c.197C>G (p.Ser66Cys) | |
| 3 | g.122261820C>T | CA354151352 | CASR | c.785C>T (p.Ser262Phe) c.302C>T (p.Ser101Phe) c.197C>T (p.Ser66Phe) | |
| 3 | g.122261821C>A | CA435424364 | CASR | c.786C>A (p.Ser262=) c.303C>A (p.Ser101=) c.198C>A (p.Ser66=) | |
| 3 | g.122261821C>G | CA435424365 | CASR | c.786C>G (p.Ser262=) c.303C>G (p.Ser101=) c.198C>G (p.Ser66=) | |
| 3 | g.122261821C>T | CA435424368 | CASR | c.786C>T (p.Ser262=) c.303C>T (p.Ser101=) c.198C>T (p.Ser66=) | |
| 3 | g.122261822A= | CA1397873102 | CASR | c.787A= (p.Thr263=) c.304A= (p.Thr102=) c.199A= (p.Thr67=) | |
| 3 | g.122261822A>C | CA354151355 | CASR | c.787A>C (p.Thr263Pro) c.304A>C (p.Thr102Pro) c.199A>C (p.Thr67Pro) | |
| 3 | g.122261822A>G | CA354151356 | CASR | c.787A>G (p.Thr263Ala) c.304A>G (p.Thr102Ala) c.199A>G (p.Thr67Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261822A>T | CA354151357 | CASR | c.787A>T (p.Thr263Ser) c.304A>T (p.Thr102Ser) c.199A>T (p.Thr67Ser) |