Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122275932G>A | CA354155228 | CASR | c.1378-6181G>A (n.1378-6181G>A) c.1498G>A (p.Asp500Asn) c.1015G>A (p.Asp339Asn) c.910G>A (p.Asp304Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.122275932G>C | CA354155229 | CASR | c.1378-6181G>C (n.1378-6181G>C) c.1498G>C (p.Asp500His) c.1015G>C (p.Asp339His) c.910G>C (p.Asp304His) | |
3 | g.122275932G= | CA1397883141 | CASR | c.1378-6181G= (n.1378-6181G=) c.1498G= (p.Asp500=) c.1015G= (p.Asp339=) c.910G= (p.Asp304=) | |
3 | g.122275932G>T | CA354155230 | CASR | c.1378-6181G>T (n.1378-6181G>T) c.1498G>T (p.Asp500Tyr) c.1015G>T (p.Asp339Tyr) c.910G>T (p.Asp304Tyr) | gnomAD v4 |
3 | g.122275933A>C | CA354155231 | CASR | c.1378-6180A>C (n.1378-6180A>C) c.1499A>C (p.Asp500Ala) c.1016A>C (p.Asp339Ala) c.911A>C (p.Asp304Ala) | |
3 | g.122275933A>G | CA354155233 | CASR | c.1378-6180A>G (n.1378-6180A>G) c.1499A>G (p.Asp500Gly) c.1016A>G (p.Asp339Gly) c.911A>G (p.Asp304Gly) | |
3 | g.122275933A>T | CA354155232 | CASR | c.1378-6180A>T (n.1378-6180A>T) c.1499A>T (p.Asp500Val) c.1016A>T (p.Asp339Val) c.911A>T (p.Asp304Val) | |
3 | g.122275934T>A | CA82745972 | CASR | c.1378-6179T>A (n.1378-6179T>A) c.1500T>A (p.Asp500Glu) c.1017T>A (p.Asp339Glu) c.912T>A (p.Asp304Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275934T>C | CA435424975 | CASR | c.1378-6179T>C (n.1378-6179T>C) c.1500T>C (p.Asp500=) c.1017T>C (p.Asp339=) c.912T>C (p.Asp304=) | gnomAD v4 |
3 | g.122275934T>G | CA354155234 | CASR | c.1378-6179T>G (n.1378-6179T>G) c.1500T>G (p.Asp500Glu) c.1017T>G (p.Asp339Glu) c.912T>G (p.Asp304Glu) | |
3 | g.122275934T= | CA1397883142 | CASR | c.1378-6179T= (n.1378-6179T=) c.1500T= (p.Asp500=) c.1017T= (p.Asp339=) c.912T= (p.Asp304=) | |
3 | g.122275935G>A | CA354155235 | CASR | c.1378-6178G>A (n.1378-6178G>A) c.1501G>A (p.Gly501Ser) c.1018G>A (p.Gly340Ser) c.913G>A (p.Gly305Ser) | |
3 | g.122275935G>C | CA354155236 | CASR | c.1378-6178G>C (n.1378-6178G>C) c.1501G>C (p.Gly501Arg) c.1018G>C (p.Gly340Arg) c.913G>C (p.Gly305Arg) | |
3 | g.122275935G>T | CA354155237 | CASR | c.1378-6178G>T (n.1378-6178G>T) c.1501G>T (p.Gly501Cys) c.1018G>T (p.Gly340Cys) c.913G>T (p.Gly305Cys) | |
3 | g.122275936G>A | CA354155238 | CASR | c.1378-6177G>A (n.1378-6177G>A) c.1502G>A (p.Gly501Asp) c.1019G>A (p.Gly340Asp) c.914G>A (p.Gly305Asp) | |
3 | g.122275936G>C | CA354155239 | CASR | c.1378-6177G>C (n.1378-6177G>C) c.1502G>C (p.Gly501Ala) c.1019G>C (p.Gly340Ala) c.914G>C (p.Gly305Ala) | ClinVar |
3 | g.122275936G>T | CA354155240 | CASR | c.1378-6177G>T (n.1378-6177G>T) c.1502G>T (p.Gly501Val) c.1019G>T (p.Gly340Val) c.914G>T (p.Gly305Val) | |
3 | g.122275937C>A | CA435424980 | CASR | c.1378-6176C>A (n.1378-6176C>A) c.1503C>A (p.Gly501=) c.1020C>A (p.Gly340=) c.915C>A (p.Gly305=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275937C= | CA1397883143 | CASR | c.1378-6176C= (n.1378-6176C=) c.1503C= (p.Gly501=) c.1020C= (p.Gly340=) c.915C= (p.Gly305=) | |
3 | g.122275937C>G | CA435424981 | CASR | c.1378-6176C>G (n.1378-6176C>G) c.1503C>G (p.Gly501=) c.1020C>G (p.Gly340=) c.915C>G (p.Gly305=) | |
3 | g.122275937C>T | CA435424982 | CASR | c.1378-6176C>T (n.1378-6176C>T) c.1503C>T (p.Gly501=) c.1020C>T (p.Gly340=) c.915C>T (p.Gly305=) | gnomAD v4 |
3 | g.122275938T>A | CA354155241 | CASR | c.1378-6175T>A (n.1378-6175T>A) c.1504T>A (p.Ser502Thr) c.1021T>A (p.Ser341Thr) c.916T>A (p.Ser306Thr) | |
3 | g.122275938T>C | CA354155242 | CASR | c.1378-6175T>C (n.1378-6175T>C) c.1504T>C (p.Ser502Pro) c.1021T>C (p.Ser341Pro) c.916T>C (p.Ser306Pro) | dbSNP gnomAD v2 |
3 | g.122275938T>G | CA354155243 | CASR | c.1378-6175T>G (n.1378-6175T>G) c.1504T>G (p.Ser502Ala) c.1021T>G (p.Ser341Ala) c.916T>G (p.Ser306Ala) | |
3 | g.122275938T= | CA1397883144 | CASR | c.1378-6175T= (n.1378-6175T=) c.1504T= (p.Ser502=) c.1021T= (p.Ser341=) c.916T= (p.Ser306=) | |
3 | g.122275939C>A | CA354155244 | CASR | c.1378-6174C>A (n.1378-6174C>A) c.1505C>A (p.Ser502Tyr) c.1022C>A (p.Ser341Tyr) c.917C>A (p.Ser306Tyr) | |
3 | g.122275939C= | CA1397883145 | CASR | c.1378-6174C= (n.1378-6174C=) c.1505C= (p.Ser502=) c.1022C= (p.Ser341=) c.917C= (p.Ser306=) | |
3 | g.122275939C>G | CA354155246 | CASR | c.1378-6174C>G (n.1378-6174C>G) c.1505C>G (p.Ser502Cys) c.1022C>G (p.Ser341Cys) c.917C>G (p.Ser306Cys) | |
3 | g.122275939C>T | CA354155245 | CASR | c.1378-6174C>T (n.1378-6174C>T) c.1505C>T (p.Ser502Phe) c.1022C>T (p.Ser341Phe) c.917C>T (p.Ser306Phe) | ClinVar dbSNP |
3 | g.122275940C>A | CA435424989 | CASR | c.1378-6173C>A (n.1378-6173C>A) c.1506C>A (p.Ser502=) c.1023C>A (p.Ser341=) c.918C>A (p.Ser306=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275940C= | CA1397883146 | CASR | c.1378-6173C= (n.1378-6173C=) c.1506C= (p.Ser502=) c.1023C= (p.Ser341=) c.918C= (p.Ser306=) | |
3 | g.122275940C>G | CA435424991 | CASR | c.1378-6173C>G (n.1378-6173C>G) c.1506C>G (p.Ser502=) c.1023C>G (p.Ser341=) c.918C>G (p.Ser306=) | |
3 | g.122275940C>T | CA435424995 | CASR | c.1378-6173C>T (n.1378-6173C>T) c.1506C>T (p.Ser502=) c.1023C>T (p.Ser341=) c.918C>T (p.Ser306=) | ClinVar dbSNP |
3 | g.122275941del | CA2580068796 | CASR | c.1378-6172del (n.1378-6172del) c.1507del (p.Ile503SerfsTer?) c.1024del (p.Ile342SerfsTer?) c.919del (p.Ile307SerfsTer?) | ClinVar |
3 | g.122275941A= | CA1397883147 | CASR | c.1378-6172A= (n.1378-6172A=) c.1507A= (p.Ile503=) c.1024A= (p.Ile342=) c.919A= (p.Ile307=) | |
3 | g.122275941A>C | CA354155247 | CASR | c.1378-6172A>C (n.1378-6172A>C) c.1507A>C (p.Ile503Leu) c.1024A>C (p.Ile342Leu) c.919A>C (p.Ile307Leu) | |
3 | g.122275941A>G | CA2569668 | CASR | c.1378-6172A>G (n.1378-6172A>G) c.1507A>G (p.Ile503Val) c.1024A>G (p.Ile342Val) c.919A>G (p.Ile307Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275941A>T | CA354155248 | CASR | c.1378-6172A>T (n.1378-6172A>T) c.1507A>T (p.Ile503Phe) c.1024A>T (p.Ile342Phe) c.919A>T (p.Ile307Phe) | |
3 | g.122275942T>A | CA354155249 | CASR | c.1378-6171T>A (n.1378-6171T>A) c.1508T>A (p.Ile503Asn) c.1025T>A (p.Ile342Asn) c.920T>A (p.Ile307Asn) | |
3 | g.122275942T>C | CA354155250 | CASR | c.1378-6171T>C (n.1378-6171T>C) c.1508T>C (p.Ile503Thr) c.1025T>C (p.Ile342Thr) c.920T>C (p.Ile307Thr) | |
3 | g.122275942T>G | CA354155251 | CASR | c.1378-6171T>G (n.1378-6171T>G) c.1508T>G (p.Ile503Ser) c.1025T>G (p.Ile342Ser) c.920T>G (p.Ile307Ser) | |
3 | g.122275943C>A | CA435424998 | CASR | c.1378-6170C>A (n.1378-6170C>A) c.1509C>A (p.Ile503=) c.1026C>A (p.Ile342=) c.921C>A (p.Ile307=) | |
3 | g.122275943C= | CA1397883148 | CASR | c.1378-6170C= (n.1378-6170C=) c.1509C= (p.Ile503=) c.1026C= (p.Ile342=) c.921C= (p.Ile307=) | |
3 | g.122275943C>G | CA354155252 | CASR | c.1378-6170C>G (n.1378-6170C>G) c.1509C>G (p.Ile503Met) c.1026C>G (p.Ile342Met) c.921C>G (p.Ile307Met) | ClinVar dbSNP |
3 | g.122275943C>T | CA2569669 | CASR | c.1378-6170C>T (n.1378-6170C>T) c.1509C>T (p.Ile503=) c.1026C>T (p.Ile342=) c.921C>T (p.Ile307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122275944G>A | CA2569670 | CASR | c.1378-6169G>A (n.1378-6169G>A) c.1510G>A (p.Val504Met) c.1027G>A (p.Val343Met) c.922G>A (p.Val308Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275944G>C | CA354155253 | CASR | c.1378-6169G>C (n.1378-6169G>C) c.1510G>C (p.Val504Leu) c.1027G>C (p.Val343Leu) c.922G>C (p.Val308Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275944G= | CA1397883150 | CASR | c.1378-6169G= (n.1378-6169G=) c.1510G= (p.Val504=) c.1027G= (p.Val343=) c.922G= (p.Val308=) | |
3 | g.122275944G>T | CA354155254 | CASR | c.1378-6169G>T (n.1378-6169G>T) c.1510G>T (p.Val504Leu) c.1027G>T (p.Val343Leu) c.922G>T (p.Val308Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122275944_122275948delinsGTGTT | CA1397883149 | CASR | c.1378-6169_1378-6165delinsGTGTT (n.1378-6169_1378-6165delinsGTGTT) c.1510_1514delinsGTGTT (p.Val504=) c.1027_1031delinsGTGTT (p.Val343=) c.922_926delinsGTGTT (p.Val308=) | |
3 | g.122275945T>A | CA354155257 | CASR | c.1378-6168T>A (n.1378-6168T>A) c.1511T>A (p.Val504Glu) c.1028T>A (p.Val343Glu) c.923T>A (p.Val308Glu) | |
3 | g.122275945T>C | CA354155256 | CASR | c.1378-6168T>C (n.1378-6168T>C) c.1511T>C (p.Val504Ala) c.1028T>C (p.Val343Ala) c.923T>C (p.Val308Ala) | |
3 | g.122275945T>G | CA354155255 | CASR | c.1378-6168T>G (n.1378-6168T>G) c.1511T>G (p.Val504Gly) c.1028T>G (p.Val343Gly) c.923T>G (p.Val308Gly) | |
3 | g.122275946_122275949del | CA213563 | CASR | c.1378-6167_1378-6164del (n.1378-6167_1378-6164del) c.1512_1515del (p.Phe505ArgfsTer?) c.1029_1032del (p.Phe344ArgfsTer?) c.924_927del (p.Phe309ArgfsTer?) | ClinVar dbSNP |
3 | g.122275946G>A | CA435425008 | CASR | c.1378-6167G>A (n.1378-6167G>A) c.1512G>A (p.Val504=) c.1029G>A (p.Val343=) c.924G>A (p.Val308=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275946G>C | CA435425005 | CASR | c.1378-6167G>C (n.1378-6167G>C) c.1512G>C (p.Val504=) c.1029G>C (p.Val343=) c.924G>C (p.Val308=) | |
3 | g.122275946G= | CA1397883151 | CASR | c.1378-6167G= (n.1378-6167G=) c.1512G= (p.Val504=) c.1029G= (p.Val343=) c.924G= (p.Val308=) | |
3 | g.122275946G>T | CA435425004 | CASR | c.1378-6167G>T (n.1378-6167G>T) c.1512G>T (p.Val504=) c.1029G>T (p.Val343=) c.924G>T (p.Val308=) | |
3 | g.122275947T>A | CA354155258 | CASR | c.1378-6166T>A (n.1378-6166T>A) c.1513T>A (p.Phe505Ile) c.1030T>A (p.Phe344Ile) c.925T>A (p.Phe309Ile) | |
3 | g.122275947T>C | CA354155259 | CASR | c.1378-6166T>C (n.1378-6166T>C) c.1513T>C (p.Phe505Leu) c.1030T>C (p.Phe344Leu) c.925T>C (p.Phe309Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122275947T>G | CA354155260 | CASR | c.1378-6166T>G (n.1378-6166T>G) c.1513T>G (p.Phe505Val) c.1030T>G (p.Phe344Val) c.925T>G (p.Phe309Val) | |
3 | g.122275948T>A | CA354155261 | CASR | c.1378-6165T>A (n.1378-6165T>A) c.1514T>A (p.Phe505Tyr) c.1031T>A (p.Phe344Tyr) c.926T>A (p.Phe309Tyr) | |
3 | g.122275948T>C | CA354155262 | CASR | c.1378-6165T>C (n.1378-6165T>C) c.1514T>C (p.Phe505Ser) c.1031T>C (p.Phe344Ser) c.926T>C (p.Phe309Ser) | |
3 | g.122275948T>G | CA354155263 | CASR | c.1378-6165T>G (n.1378-6165T>G) c.1514T>G (p.Phe505Cys) c.1031T>G (p.Phe344Cys) c.926T>G (p.Phe309Cys) | |
3 | g.122275949T>A | CA354155264 | CASR | c.1378-6164T>A (n.1378-6164T>A) c.1515T>A (p.Phe505Leu) c.1032T>A (p.Phe344Leu) c.927T>A (p.Phe309Leu) | |
3 | g.122275949T>C | CA435425014 | CASR | c.1378-6164T>C (n.1378-6164T>C) c.1515T>C (p.Phe505=) c.1032T>C (p.Phe344=) c.927T>C (p.Phe309=) | ClinVar |
3 | g.122275949T>G | CA354155265 | CASR | c.1378-6164T>G (n.1378-6164T>G) c.1515T>G (p.Phe505Leu) c.1032T>G (p.Phe344Leu) c.927T>G (p.Phe309Leu) | |
3 | g.122275950A>C | CA354155266 | CASR | c.1378-6163A>C (n.1378-6163A>C) c.1516A>C (p.Lys506Gln) c.1033A>C (p.Lys345Gln) c.928A>C (p.Lys310Gln) | |
3 | g.122275950A>G | CA354155267 | CASR | c.1378-6163A>G (n.1378-6163A>G) c.1516A>G (p.Lys506Glu) c.1033A>G (p.Lys345Glu) c.928A>G (p.Lys310Glu) | |
3 | g.122275950A>T | CA354155268 | CASR | c.1378-6163A>T (n.1378-6163A>T) c.1516A>T (p.Lys506Ter) c.1033A>T (p.Lys345Ter) c.928A>T (p.Lys310Ter) | |
3 | g.122275951A= | CA1397883152 | CASR | c.1378-6162A= (n.1378-6162A=) c.1517A= (p.Lys506=) c.1034A= (p.Lys345=) c.929A= (p.Lys310=) | |
3 | g.122275951A>C | CA2569671 | CASR | c.1378-6162A>C (n.1378-6162A>C) c.1517A>C (p.Lys506Thr) c.1034A>C (p.Lys345Thr) c.929A>C (p.Lys310Thr) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.122275951A>G | CA354155270 | CASR | c.1378-6162A>G (n.1378-6162A>G) c.1517A>G (p.Lys506Arg) c.1034A>G (p.Lys345Arg) c.929A>G (p.Lys310Arg) | |
3 | g.122275951A>T | CA354155269 | CASR | c.1378-6162A>T (n.1378-6162A>T) c.1517A>T (p.Lys506Met) c.1034A>T (p.Lys345Met) c.929A>T (p.Lys310Met) | |
3 | g.122275952G>A | CA435425021 | CASR | c.1378-6161G>A (n.1378-6161G>A) c.1518G>A (p.Lys506=) c.1035G>A (p.Lys345=) c.930G>A (p.Lys310=) | ClinVar |
3 | g.122275952G>C | CA354155272 | CASR | c.1378-6161G>C (n.1378-6161G>C) c.1518G>C (p.Lys506Asn) c.1035G>C (p.Lys345Asn) c.930G>C (p.Lys310Asn) | |
3 | g.122275952G>T | CA354155271 | CASR | c.1378-6161G>T (n.1378-6161G>T) c.1518G>T (p.Lys506Asn) c.1035G>T (p.Lys345Asn) c.930G>T (p.Lys310Asn) | |
3 | g.122275953G>A | CA354155273 | CASR | c.1378-6160G>A (n.1378-6160G>A) c.1519G>A (p.Glu507Lys) c.1036G>A (p.Glu346Lys) c.931G>A (p.Glu311Lys) | |
3 | g.122275953G>C | CA354155274 | CASR | c.1378-6160G>C (n.1378-6160G>C) c.1519G>C (p.Glu507Gln) c.1036G>C (p.Glu346Gln) c.931G>C (p.Glu311Gln) | |
3 | g.122275953G>T | CA354155275 | CASR | c.1378-6160G>T (n.1378-6160G>T) c.1519G>T (p.Glu507Ter) c.1036G>T (p.Glu346Ter) c.931G>T (p.Glu311Ter) | |
3 | g.122275954A>C | CA354155276 | CASR | c.1378-6159A>C (n.1378-6159A>C) c.1520A>C (p.Glu507Ala) c.1037A>C (p.Glu346Ala) c.932A>C (p.Glu311Ala) | |
3 | g.122275954A>G | CA354155277 | CASR | c.1378-6159A>G (n.1378-6159A>G) c.1520A>G (p.Glu507Gly) c.1037A>G (p.Glu346Gly) c.932A>G (p.Glu311Gly) | |
3 | g.122275954A>T | CA354155278 | CASR | c.1378-6159A>T (n.1378-6159A>T) c.1520A>T (p.Glu507Val) c.1037A>T (p.Glu346Val) c.932A>T (p.Glu311Val) | |
3 | g.122275955A>C | CA354155279 | CASR | c.1378-6158A>C (n.1378-6158A>C) c.1521A>C (p.Glu507Asp) c.1038A>C (p.Glu346Asp) c.933A>C (p.Glu311Asp) | |
3 | g.122275955A>G | CA435425026 | CASR | c.1378-6158A>G (n.1378-6158A>G) c.1521A>G (p.Glu507=) c.1038A>G (p.Glu346=) c.933A>G (p.Glu311=) | |
3 | g.122275955A>T | CA354155280 | CASR | c.1378-6158A>T (n.1378-6158A>T) c.1521A>T (p.Glu507Asp) c.1038A>T (p.Glu346Asp) c.933A>T (p.Glu311Asp) | ClinVar |
3 | g.122275956G>A | CA2569672 | CASR | c.1378-6157G>A (n.1378-6157G>A) c.1522G>A (p.Val508Ile) c.1039G>A (p.Val347Ile) c.934G>A (p.Val312Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275956G>C | CA354155281 | CASR | c.1378-6157G>C (n.1378-6157G>C) c.1522G>C (p.Val508Leu) c.1039G>C (p.Val347Leu) c.934G>C (p.Val312Leu) | |
3 | g.122275956G= | CA1397883153 | CASR | c.1378-6157G= (n.1378-6157G=) c.1522G= (p.Val508=) c.1039G= (p.Val347=) c.934G= (p.Val312=) | |
3 | g.122275956G>T | CA354155282 | CASR | c.1378-6157G>T (n.1378-6157G>T) c.1522G>T (p.Val508Phe) c.1039G>T (p.Val347Phe) c.934G>T (p.Val312Phe) | gnomAD v4 |
3 | g.122275957T>A | CA354155285 | CASR | c.1378-6156T>A (n.1378-6156T>A) c.1523T>A (p.Val508Asp) c.1040T>A (p.Val347Asp) c.935T>A (p.Val312Asp) | |
3 | g.122275957T>C | CA354155284 | CASR | c.1378-6156T>C (n.1378-6156T>C) c.1523T>C (p.Val508Ala) c.1040T>C (p.Val347Ala) c.935T>C (p.Val312Ala) | COSMIC |
3 | g.122275957T>G | CA354155283 | CASR | c.1378-6156T>G (n.1378-6156T>G) c.1523T>G (p.Val508Gly) c.1040T>G (p.Val347Gly) c.935T>G (p.Val312Gly) | |
3 | g.122275958C>A | CA435425033 | CASR | c.1378-6155C>A (n.1378-6155C>A) c.1524C>A (p.Val508=) c.1041C>A (p.Val347=) c.936C>A (p.Val312=) | |
3 | g.122275958C= | CA1397883154 | CASR | c.1378-6155C= (n.1378-6155C=) c.1524C= (p.Val508=) c.1041C= (p.Val347=) c.936C= (p.Val312=) | |
3 | g.122275958C>G | CA435425034 | CASR | c.1378-6155C>G (n.1378-6155C>G) c.1524C>G (p.Val508=) c.1041C>G (p.Val347=) c.936C>G (p.Val312=) | |
3 | g.122275958C>T | CA82745981 | CASR | c.1378-6155C>T (n.1378-6155C>T) c.1524C>T (p.Val508=) c.1041C>T (p.Val347=) c.936C>T (p.Val312=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275959G>A | CA213564 | CASR | c.1378-6154G>A (n.1378-6154G>A) c.1525G>A (p.Gly509Arg) c.1042G>A (p.Gly348Arg) c.937G>A (p.Gly313Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275959G>C | CA354155286 | CASR | c.1378-6154G>C (n.1378-6154G>C) c.1525G>C (p.Gly509Arg) c.1042G>C (p.Gly348Arg) c.937G>C (p.Gly313Arg) | ClinVar dbSNP |
3 | g.122275959G= | CA1397883155 | CASR | c.1378-6154G= (n.1378-6154G=) c.1525G= (p.Gly509=) c.1042G= (p.Gly348=) c.937G= (p.Gly313=) | |
3 | g.122275959G>T | CA354155287 | CASR | c.1378-6154G>T (n.1378-6154G>T) c.1525G>T (p.Gly509Trp) c.1042G>T (p.Gly348Trp) c.937G>T (p.Gly313Trp) | |
3 | g.122275960G>A | CA16611121 | CASR | c.1378-6153G>A (n.1378-6153G>A) c.1526G>A (p.Gly509Glu) c.1043G>A (p.Gly348Glu) c.938G>A (p.Gly313Glu) | ClinVar dbSNP |
3 | g.122275960G>C | CA354155288 | CASR | c.1378-6153G>C (n.1378-6153G>C) c.1526G>C (p.Gly509Ala) c.1043G>C (p.Gly348Ala) c.938G>C (p.Gly313Ala) | ClinVar gnomAD v4 |
3 | g.122275960G= | CA1397883156 | CASR | c.1378-6153G= (n.1378-6153G=) c.1526G= (p.Gly509=) c.1043G= (p.Gly348=) c.938G= (p.Gly313=) | |
3 | g.122275960G>T | CA354155289 | CASR | c.1378-6153G>T (n.1378-6153G>T) c.1526G>T (p.Gly509Val) c.1043G>T (p.Gly348Val) c.938G>T (p.Gly313Val) | |
3 | g.122275961G>A | CA435425038 | CASR | c.1378-6152G>A (n.1378-6152G>A) c.1527G>A (p.Gly509=) c.1044G>A (p.Gly348=) c.939G>A (p.Gly313=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122275961G>C | CA435425039 | CASR | c.1378-6152G>C (n.1378-6152G>C) c.1527G>C (p.Gly509=) c.1044G>C (p.Gly348=) c.939G>C (p.Gly313=) | |
3 | g.122275961G>T | CA435425040 | CASR | c.1378-6152G>T (n.1378-6152G>T) c.1527G>T (p.Gly509=) c.1044G>T (p.Gly348=) c.939G>T (p.Gly313=) | gnomAD v4 |
3 | g.122275962T>A | CA354155290 | CASR | c.1378-6151T>A (n.1378-6151T>A) c.1528T>A (p.Tyr510Asn) c.1045T>A (p.Tyr349Asn) c.940T>A (p.Tyr314Asn) | |
3 | g.122275962T>C | CA354155291 | CASR | c.1378-6151T>C (n.1378-6151T>C) c.1528T>C (p.Tyr510His) c.1045T>C (p.Tyr349His) c.940T>C (p.Tyr314His) | |
3 | g.122275962T>G | CA354155292 | CASR | c.1378-6151T>G (n.1378-6151T>G) c.1528T>G (p.Tyr510Asp) c.1045T>G (p.Tyr349Asp) c.940T>G (p.Tyr314Asp) | |
3 | g.122275963A= | CA1397883157 | CASR | c.1378-6150A= (n.1378-6150A=) c.1529A= (p.Tyr510=) c.1046A= (p.Tyr349=) c.941A= (p.Tyr314=) | |
3 | g.122275963A>C | CA354155293 | CASR | c.1378-6150A>C (n.1378-6150A>C) c.1529A>C (p.Tyr510Ser) c.1046A>C (p.Tyr349Ser) c.941A>C (p.Tyr314Ser) | |
3 | g.122275963A>G | CA2569673 | CASR | c.1378-6150A>G (n.1378-6150A>G) c.1529A>G (p.Tyr510Cys) c.1046A>G (p.Tyr349Cys) c.941A>G (p.Tyr314Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275963A>T | CA354155294 | CASR | c.1378-6150A>T (n.1378-6150A>T) c.1529A>T (p.Tyr510Phe) c.1046A>T (p.Tyr349Phe) c.941A>T (p.Tyr314Phe) | |
3 | g.122275964T>A | CA354155296 | CASR | c.1378-6149T>A (n.1378-6149T>A) c.1530T>A (p.Tyr510Ter) c.1047T>A (p.Tyr349Ter) c.942T>A (p.Tyr314Ter) | |
3 | g.122275964T>C | CA435425043 | CASR | c.1378-6149T>C (n.1378-6149T>C) c.1530T>C (p.Tyr510=) c.1047T>C (p.Tyr349=) c.942T>C (p.Tyr314=) | |
3 | g.122275964T>G | CA354155295 | CASR | c.1378-6149T>G (n.1378-6149T>G) c.1530T>G (p.Tyr510Ter) c.1047T>G (p.Tyr349Ter) c.942T>G (p.Tyr314Ter) | |
3 | g.122275965T>A | CA354155297 | CASR | c.1378-6148T>A (n.1378-6148T>A) c.1531T>A (p.Tyr511Asn) c.1048T>A (p.Tyr350Asn) c.943T>A (p.Tyr315Asn) | gnomAD v4 |
3 | g.122275965T>C | CA354155298 | CASR | c.1378-6148T>C (n.1378-6148T>C) c.1531T>C (p.Tyr511His) c.1048T>C (p.Tyr350His) c.943T>C (p.Tyr315His) | |
3 | g.122275965T>G | CA354155299 | CASR | c.1378-6148T>G (n.1378-6148T>G) c.1531T>G (p.Tyr511Asp) c.1048T>G (p.Tyr350Asp) c.943T>G (p.Tyr315Asp) | |
3 | g.122275966A>C | CA354155300 | CASR | c.1378-6147A>C (n.1378-6147A>C) c.1532A>C (p.Tyr511Ser) c.1049A>C (p.Tyr350Ser) c.944A>C (p.Tyr315Ser) | |
3 | g.122275966A>G | CA354155301 | CASR | c.1378-6147A>G (n.1378-6147A>G) c.1532A>G (p.Tyr511Cys) c.1049A>G (p.Tyr350Cys) c.944A>G (p.Tyr315Cys) | |
3 | g.122275966A>T | CA354155303 | CASR | c.1378-6147A>T (n.1378-6147A>T) c.1532A>T (p.Tyr511Phe) c.1049A>T (p.Tyr350Phe) c.944A>T (p.Tyr315Phe) | |
3 | g.122275967C>A | CA354155305 | CASR | c.1378-6146C>A (n.1378-6146C>A) c.1533C>A (p.Tyr511Ter) c.1050C>A (p.Tyr350Ter) c.945C>A (p.Tyr315Ter) | |
3 | g.122275967C>G | CA354155307 | CASR | c.1378-6146C>G (n.1378-6146C>G) c.1533C>G (p.Tyr511Ter) c.1050C>G (p.Tyr350Ter) c.945C>G (p.Tyr315Ter) | |
3 | g.122275967C>T | CA435425051 | CASR | c.1378-6146C>T (n.1378-6146C>T) c.1533C>T (p.Tyr511=) c.1050C>T (p.Tyr350=) c.945C>T (p.Tyr315=) | ClinVar gnomAD v4 |
3 | g.122275968A= | CA1397883158 | CASR | c.1378-6145A= (n.1378-6145A=) c.1534A= (p.Asn512=) c.1051A= (p.Asn351=) c.946A= (p.Asn316=) | |
3 | g.122275968A>C | CA354155309 | CASR | c.1378-6145A>C (n.1378-6145A>C) c.1534A>C (p.Asn512His) c.1051A>C (p.Asn351His) c.946A>C (p.Asn316His) | |
3 | g.122275968A>G | CA354155311 | CASR | c.1378-6145A>G (n.1378-6145A>G) c.1534A>G (p.Asn512Asp) c.1051A>G (p.Asn351Asp) c.946A>G (p.Asn316Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.122275968A>T | CA354155313 | CASR | c.1378-6145A>T (n.1378-6145A>T) c.1534A>T (p.Asn512Tyr) c.1051A>T (p.Asn351Tyr) c.946A>T (p.Asn316Tyr) | |
3 | g.122275969A>C | CA354155314 | CASR | c.1378-6144A>C (n.1378-6144A>C) c.1535A>C (p.Asn512Thr) c.1052A>C (p.Asn351Thr) c.947A>C (p.Asn316Thr) | |
3 | g.122275969A>G | CA354155315 | CASR | c.1378-6144A>G (n.1378-6144A>G) c.1535A>G (p.Asn512Ser) c.1052A>G (p.Asn351Ser) c.947A>G (p.Asn316Ser) | dbSNP |
3 | g.122275969A>T | CA354155317 | CASR | c.1378-6144A>T (n.1378-6144A>T) c.1535A>T (p.Asn512Ile) c.1052A>T (p.Asn351Ile) c.947A>T (p.Asn316Ile) | |
3 | g.122275970C>A | CA354155321 | CASR | c.1378-6143C>A (n.1378-6143C>A) c.1536C>A (p.Asn512Lys) c.1053C>A (p.Asn351Lys) c.948C>A (p.Asn316Lys) | |
3 | g.122275970C= | CA1397883159 | CASR | c.1378-6143C= (n.1378-6143C=) c.1536C= (p.Asn512=) c.1053C= (p.Asn351=) c.948C= (p.Asn316=) | |
3 | g.122275970C>G | CA354155319 | CASR | c.1378-6143C>G (n.1378-6143C>G) c.1536C>G (p.Asn512Lys) c.1053C>G (p.Asn351Lys) c.948C>G (p.Asn316Lys) | |
3 | g.122275970C>T | CA82745987 | CASR | c.1378-6143C>T (n.1378-6143C>T) c.1536C>T (p.Asn512=) c.1053C>T (p.Asn351=) c.948C>T (p.Asn316=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275971G>A | CA82745990 | CASR | c.1378-6142G>A (n.1378-6142G>A) c.1537G>A (p.Val513Ile) c.1054G>A (p.Val352Ile) c.949G>A (p.Val317Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122275971G>C | CA354155324 | CASR | c.1378-6142G>C (n.1378-6142G>C) c.1537G>C (p.Val513Leu) c.1054G>C (p.Val352Leu) c.949G>C (p.Val317Leu) | |
3 | g.122275971G= | CA1397883160 | CASR | c.1378-6142G= (n.1378-6142G=) c.1537G= (p.Val513=) c.1054G= (p.Val352=) c.949G= (p.Val317=) | |
3 | g.122275971G>T | CA354155326 | CASR | c.1378-6142G>T (n.1378-6142G>T) c.1537G>T (p.Val513Phe) c.1054G>T (p.Val352Phe) c.949G>T (p.Val317Phe) | |
3 | g.122275972T>A | CA354155328 | CASR | c.1378-6141T>A (n.1378-6141T>A) c.1538T>A (p.Val513Asp) c.1055T>A (p.Val352Asp) c.950T>A (p.Val317Asp) | dbSNP |
3 | g.122275972T>C | CA354155330 | CASR | c.1378-6141T>C (n.1378-6141T>C) c.1538T>C (p.Val513Ala) c.1055T>C (p.Val352Ala) c.950T>C (p.Val317Ala) | |
3 | g.122275972T>G | CA354155332 | CASR | c.1378-6141T>G (n.1378-6141T>G) c.1538T>G (p.Val513Gly) c.1055T>G (p.Val352Gly) c.950T>G (p.Val317Gly) | |
3 | g.122275972T= | CA1397883161 | CASR | c.1378-6141T= (n.1378-6141T=) c.1538T= (p.Val513=) c.1055T= (p.Val352=) c.950T= (p.Val317=) | |
3 | g.122275973C>A | CA435424556 | CASR | c.1378-6140C>A (n.1378-6140C>A) c.1539C>A (p.Val513=) c.1056C>A (p.Val352=) c.951C>A (p.Val317=) | |
3 | g.122275973C= | CA1397883162 | CASR | c.1378-6140C= (n.1378-6140C=) c.1539C= (p.Val513=) c.1056C= (p.Val352=) c.951C= (p.Val317=) | |
3 | g.122275973C>G | CA435424558 | CASR | c.1378-6140C>G (n.1378-6140C>G) c.1539C>G (p.Val513=) c.1056C>G (p.Val352=) c.951C>G (p.Val317=) | |
3 | g.122275973C>T | CA435424559 | CASR | c.1378-6140C>T (n.1378-6140C>T) c.1539C>T (p.Val513=) c.1056C>T (p.Val352=) c.951C>T (p.Val317=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275974T>A | CA354155334 | CASR | c.1378-6139T>A (n.1378-6139T>A) c.1540T>A (p.Tyr514Asn) c.1057T>A (p.Tyr353Asn) c.952T>A (p.Tyr318Asn) | |
3 | g.122275974T>C | CA354155335 | CASR | c.1378-6139T>C (n.1378-6139T>C) c.1540T>C (p.Tyr514His) c.1057T>C (p.Tyr353His) c.952T>C (p.Tyr318His) | |
3 | g.122275974T>G | CA354155337 | CASR | c.1378-6139T>G (n.1378-6139T>G) c.1540T>G (p.Tyr514Asp) c.1057T>G (p.Tyr353Asp) c.952T>G (p.Tyr318Asp) | |
3 | g.122275975A>C | CA354155339 | CASR | c.1378-6138A>C (n.1378-6138A>C) c.1541A>C (p.Tyr514Ser) c.1058A>C (p.Tyr353Ser) c.953A>C (p.Tyr318Ser) | |
3 | g.122275975A>G | CA354155340 | CASR | c.1378-6138A>G (n.1378-6138A>G) c.1541A>G (p.Tyr514Cys) c.1058A>G (p.Tyr353Cys) c.953A>G (p.Tyr318Cys) | ClinVar |
3 | g.122275975A>T | CA354155342 | CASR | c.1378-6138A>T (n.1378-6138A>T) c.1541A>T (p.Tyr514Phe) c.1058A>T (p.Tyr353Phe) c.953A>T (p.Tyr318Phe) | |
3 | g.122275976T>A | CA354155345 | CASR | c.1378-6137T>A (n.1378-6137T>A) c.1542T>A (p.Tyr514Ter) c.1059T>A (p.Tyr353Ter) c.954T>A (p.Tyr318Ter) | |
3 | g.122275976T>C | CA435424565 | CASR | c.1378-6137T>C (n.1378-6137T>C) c.1542T>C (p.Tyr514=) c.1059T>C (p.Tyr353=) c.954T>C (p.Tyr318=) | ClinVar |
3 | g.122275976T>G | CA354155346 | CASR | c.1378-6137T>G (n.1378-6137T>G) c.1542T>G (p.Tyr514Ter) c.1059T>G (p.Tyr353Ter) c.954T>G (p.Tyr318Ter) | ClinVar dbSNP |
3 | g.122275976T= | CA1397883163 | CASR | c.1378-6137T= (n.1378-6137T=) c.1542T= (p.Tyr514=) c.1059T= (p.Tyr353=) c.954T= (p.Tyr318=) | |
3 | g.122275977G>A | CA354155351 | CASR | c.1378-6136G>A (n.1378-6136G>A) c.1543G>A (p.Ala515Thr) c.1060G>A (p.Ala354Thr) c.955G>A (p.Ala319Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275977G>C | CA354155353 | CASR | c.1378-6136G>C (n.1378-6136G>C) c.1543G>C (p.Ala515Pro) c.1060G>C (p.Ala354Pro) c.955G>C (p.Ala319Pro) | |
3 | g.122275977G= | CA1397883164 | CASR | c.1378-6136G= (n.1378-6136G=) c.1543G= (p.Ala515=) c.1060G= (p.Ala354=) c.955G= (p.Ala319=) | |
3 | g.122275977G>T | CA354155349 | CASR | c.1378-6136G>T (n.1378-6136G>T) c.1543G>T (p.Ala515Ser) c.1060G>T (p.Ala354Ser) c.955G>T (p.Ala319Ser) | |
3 | g.122275978C>A | CA354155357 | CASR | c.1378-6135C>A (n.1378-6135C>A) c.1544C>A (p.Ala515Asp) c.1061C>A (p.Ala354Asp) c.956C>A (p.Ala319Asp) | |
3 | g.122275978C>G | CA354155354 | CASR | c.1378-6135C>G (n.1378-6135C>G) c.1544C>G (p.Ala515Gly) c.1061C>G (p.Ala354Gly) c.956C>G (p.Ala319Gly) | |
3 | g.122275978C>T | CA354155355 | CASR | c.1378-6135C>T (n.1378-6135C>T) c.1544C>T (p.Ala515Val) c.1061C>T (p.Ala354Val) c.956C>T (p.Ala319Val) | |
3 | g.122275979C>A | CA435424572 | CASR | c.1378-6134C>A (n.1378-6134C>A) c.1545C>A (p.Ala515=) c.1062C>A (p.Ala354=) c.957C>A (p.Ala319=) | |
3 | g.122275979C= | CA1397883165 | CASR | c.1378-6134C= (n.1378-6134C=) c.1545C= (p.Ala515=) c.1062C= (p.Ala354=) c.957C= (p.Ala319=) | |
3 | g.122275979C>G | CA435424573 | CASR | c.1378-6134C>G (n.1378-6134C>G) c.1545C>G (p.Ala515=) c.1062C>G (p.Ala354=) c.957C>G (p.Ala319=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275979C>T | CA435424574 | CASR | c.1378-6134C>T (n.1378-6134C>T) c.1545C>T (p.Ala515=) c.1062C>T (p.Ala354=) c.957C>T (p.Ala319=) | ClinVar |
3 | g.122275980A>C | CA354155360 | CASR | c.1378-6133A>C (n.1378-6133A>C) c.1546A>C (p.Lys516Gln) c.1063A>C (p.Lys355Gln) c.958A>C (p.Lys320Gln) | |
3 | g.122275980A>G | CA354155361 | CASR | c.1378-6133A>G (n.1378-6133A>G) c.1546A>G (p.Lys516Glu) c.1063A>G (p.Lys355Glu) c.958A>G (p.Lys320Glu) | |
3 | g.122275980A>T | CA354155364 | CASR | c.1378-6133A>T (n.1378-6133A>T) c.1546A>T (p.Lys516Ter) c.1063A>T (p.Lys355Ter) c.958A>T (p.Lys320Ter) | |
3 | g.122275981A>C | CA354155366 | CASR | c.1378-6132A>C (n.1378-6132A>C) c.1547A>C (p.Lys516Thr) c.1064A>C (p.Lys355Thr) c.959A>C (p.Lys320Thr) | |
3 | g.122275981A>G | CA354155368 | CASR | c.1378-6132A>G (n.1378-6132A>G) c.1547A>G (p.Lys516Arg) c.1064A>G (p.Lys355Arg) c.959A>G (p.Lys320Arg) | ClinVar |
3 | g.122275981A>T | CA354155370 | CASR | c.1378-6132A>T (n.1378-6132A>T) c.1547A>T (p.Lys516Met) c.1064A>T (p.Lys355Met) c.959A>T (p.Lys320Met) | |
3 | g.122275982G>A | CA435424578 | CASR | c.1378-6131G>A (n.1378-6131G>A) c.1548G>A (p.Lys516=) c.1065G>A (p.Lys355=) c.960G>A (p.Lys320=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122275982G>C | CA354155372 | CASR | c.1378-6131G>C (n.1378-6131G>C) c.1548G>C (p.Lys516Asn) c.1065G>C (p.Lys355Asn) c.960G>C (p.Lys320Asn) | |
3 | g.122275982G= | CA1397883166 | CASR | c.1378-6131G= (n.1378-6131G=) c.1548G= (p.Lys516=) c.1065G= (p.Lys355=) c.960G= (p.Lys320=) | |
3 | g.122275982G>T | CA354155373 | CASR | c.1378-6131G>T (n.1378-6131G>T) c.1548G>T (p.Lys516Asn) c.1065G>T (p.Lys355Asn) c.960G>T (p.Lys320Asn) | |
3 | g.122275983A= | CA1397883167 | CASR | c.1378-6130A= (n.1378-6130A=) c.1549A= (p.Lys517=) c.1066A= (p.Lys356=) c.961A= (p.Lys321=) | |
3 | g.122275983A>C | CA354155374 | CASR | c.1378-6130A>C (n.1378-6130A>C) c.1549A>C (p.Lys517Gln) c.1066A>C (p.Lys356Gln) c.961A>C (p.Lys321Gln) | |
3 | g.122275983A>G | CA2569674 | CASR | c.1378-6130A>G (n.1378-6130A>G) c.1549A>G (p.Lys517Glu) c.1066A>G (p.Lys356Glu) c.961A>G (p.Lys321Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275983A>T | CA354155377 | CASR | c.1378-6130A>T (n.1378-6130A>T) c.1549A>T (p.Lys517Ter) c.1066A>T (p.Lys356Ter) c.961A>T (p.Lys321Ter) | |
3 | g.122275984A>C | CA354155384 | CASR | c.1378-6129A>C (n.1378-6129A>C) c.1550A>C (p.Lys517Thr) c.1067A>C (p.Lys356Thr) c.962A>C (p.Lys321Thr) | gnomAD v4 |
3 | g.122275984A>G | CA354155380 | CASR | c.1378-6129A>G (n.1378-6129A>G) c.1550A>G (p.Lys517Arg) c.1067A>G (p.Lys356Arg) c.962A>G (p.Lys321Arg) | |
3 | g.122275984A>T | CA354155382 | CASR | c.1378-6129A>T (n.1378-6129A>T) c.1550A>T (p.Lys517Met) c.1067A>T (p.Lys356Met) c.962A>T (p.Lys321Met) | ClinVar dbSNP |
3 | g.122275985G>A | CA435424587 | CASR | c.1378-6128G>A (n.1378-6128G>A) c.1551G>A (p.Lys517=) c.1068G>A (p.Lys356=) c.963G>A (p.Lys321=) | ClinVar gnomAD v4 |
3 | g.122275985G>C | CA354155386 | CASR | c.1378-6128G>C (n.1378-6128G>C) c.1551G>C (p.Lys517Asn) c.1068G>C (p.Lys356Asn) c.963G>C (p.Lys321Asn) | |
3 | g.122275985G= | CA1397883168 | CASR | c.1378-6128G= (n.1378-6128G=) c.1551G= (p.Lys517=) c.1068G= (p.Lys356=) c.963G= (p.Lys321=) | |
3 | g.122275985G>T | CA2569675 | CASR | c.1378-6128G>T (n.1378-6128G>T) c.1551G>T (p.Lys517Asn) c.1068G>T (p.Lys356Asn) c.963G>T (p.Lys321Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275986G>A | CA354155389 | CASR | c.1378-6127G>A (n.1378-6127G>A) c.1552G>A (p.Gly518Arg) c.1069G>A (p.Gly357Arg) c.964G>A (p.Gly322Arg) | ClinVar dbSNP |
3 | g.122275986G>C | CA354155391 | CASR | c.1378-6127G>C (n.1378-6127G>C) c.1552G>C (p.Gly518Arg) c.1069G>C (p.Gly357Arg) c.964G>C (p.Gly322Arg) | |
3 | g.122275986G= | CA1397883169 | CASR | c.1378-6127G= (n.1378-6127G=) c.1552G= (p.Gly518=) c.1069G= (p.Gly357=) c.964G= (p.Gly322=) | |
3 | g.122275986G>T | CA354155393 | CASR | c.1378-6127G>T (n.1378-6127G>T) c.1552G>T (p.Gly518Ter) c.1069G>T (p.Gly357Ter) c.964G>T (p.Gly322Ter) | |
3 | g.122275987G>A | CA2569676 | CASR | c.1378-6126G>A (n.1378-6126G>A) c.1553G>A (p.Gly518Glu) c.1070G>A (p.Gly357Glu) c.965G>A (p.Gly322Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122275987G>C | CA354155396 | CASR | c.1378-6126G>C (n.1378-6126G>C) c.1553G>C (p.Gly518Ala) c.1070G>C (p.Gly357Ala) c.965G>C (p.Gly322Ala) | |
3 | g.122275987G= | CA1397883170 | CASR | c.1378-6126G= (n.1378-6126G=) c.1553G= (p.Gly518=) c.1070G= (p.Gly357=) c.965G= (p.Gly322=) | |
3 | g.122275987G>T | CA354155398 | CASR | c.1378-6126G>T (n.1378-6126G>T) c.1553G>T (p.Gly518Val) c.1070G>T (p.Gly357Val) c.965G>T (p.Gly322Val) | |
3 | g.122275988A= | CA1397883171 | CASR | c.1378-6125A= (n.1378-6125A=) c.1554A= (p.Gly518=) c.1071A= (p.Gly357=) c.966A= (p.Gly322=) | |
3 | g.122275988A>C | CA435424600 | CASR | c.1378-6125A>C (n.1378-6125A>C) c.1554A>C (p.Gly518=) c.1071A>C (p.Gly357=) c.966A>C (p.Gly322=) | |
3 | g.122275988A>G | CA2569677 | CASR | c.1378-6125A>G (n.1378-6125A>G) c.1554A>G (p.Gly518=) c.1071A>G (p.Gly357=) c.966A>G (p.Gly322=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122275988A>T | CA435424595 | CASR | c.1378-6125A>T (n.1378-6125A>T) c.1554A>T (p.Gly518=) c.1071A>T (p.Gly357=) c.966A>T (p.Gly322=) | |
3 | g.122275991_122275994del | CA2573136464 | CASR | c.1378-6122_1378-6119del (n.1378-6122_1378-6119del) c.1557_1560del (p.Glu519AspfsTer?) c.1074_1077del (p.Glu358AspfsTer?) c.969_972del (p.Glu323AspfsTer?) | ClinVar dbSNP |
3 | g.122275989G>A | CA354155401 | CASR | c.1378-6124G>A (n.1378-6124G>A) c.1555G>A (p.Glu519Lys) c.1072G>A (p.Glu358Lys) c.967G>A (p.Glu323Lys) | |
3 | g.122275989G>C | CA354155403 | CASR | c.1378-6124G>C (n.1378-6124G>C) c.1555G>C (p.Glu519Gln) c.1072G>C (p.Glu358Gln) c.967G>C (p.Glu323Gln) | |
3 | g.122275989G>T | CA354155405 | CASR | c.1378-6124G>T (n.1378-6124G>T) c.1555G>T (p.Glu519Ter) c.1072G>T (p.Glu358Ter) c.967G>T (p.Glu323Ter) | |
3 | g.122275990A>C | CA354155411 | CASR | c.1378-6123A>C (n.1378-6123A>C) c.1556A>C (p.Glu519Ala) c.1073A>C (p.Glu358Ala) c.968A>C (p.Glu323Ala) | |
3 | g.122275990A>G | CA354155409 | CASR | c.1378-6123A>G (n.1378-6123A>G) c.1556A>G (p.Glu519Gly) c.1073A>G (p.Glu358Gly) c.968A>G (p.Glu323Gly) | |
3 | g.122275990A>T | CA354155407 | CASR | c.1378-6123A>T (n.1378-6123A>T) c.1556A>T (p.Glu519Val) c.1073A>T (p.Glu358Val) c.968A>T (p.Glu323Val) | |
3 | g.122275991A= | CA1397883172 | CASR | c.1378-6122A= (n.1378-6122A=) c.1557A= (p.Glu519=) c.1074A= (p.Glu358=) c.969A= (p.Glu323=) | |
3 | g.122275991A>C | CA354155414 | CASR | c.1378-6122A>C (n.1378-6122A>C) c.1557A>C (p.Glu519Asp) c.1074A>C (p.Glu358Asp) c.969A>C (p.Glu323Asp) | |
3 | g.122275991A>G | CA82746009 | CASR | c.1378-6122A>G (n.1378-6122A>G) c.1557A>G (p.Glu519=) c.1074A>G (p.Glu358=) c.969A>G (p.Glu323=) | ClinVar dbSNP gnomAD v4 |
3 | g.122275991A>T | CA354155413 | CASR | c.1378-6122A>T (n.1378-6122A>T) c.1557A>T (p.Glu519Asp) c.1074A>T (p.Glu358Asp) c.969A>T (p.Glu323Asp) | |
3 | g.122275992A>C | CA435424609 | CASR | c.1378-6121A>C (n.1378-6121A>C) c.1558A>C (p.Arg520=) c.1075A>C (p.Arg359=) c.970A>C (p.Arg324=) | |
3 | g.122275992A>G | CA354155416 | CASR | c.1378-6121A>G (n.1378-6121A>G) c.1558A>G (p.Arg520Gly) c.1075A>G (p.Arg359Gly) c.970A>G (p.Arg324Gly) | |
3 | g.122275992A>T | CA354155419 | CASR | c.1378-6121A>T (n.1378-6121A>T) c.1558A>T (p.Arg520Ter) c.1075A>T (p.Arg359Ter) c.970A>T (p.Arg324Ter) | |
3 | g.122275993G>A | CA354155421 | CASR | c.1378-6120G>A (n.1378-6120G>A) c.1559G>A (p.Arg520Lys) c.1076G>A (p.Arg359Lys) c.971G>A (p.Arg324Lys) | |
3 | g.122275993G>C | CA354155423 | CASR | c.1378-6120G>C (n.1378-6120G>C) c.1559G>C (p.Arg520Thr) c.1076G>C (p.Arg359Thr) c.971G>C (p.Arg324Thr) | gnomAD v4 |
3 | g.122275993G>T | CA354155425 | CASR | c.1378-6120G>T (n.1378-6120G>T) c.1559G>T (p.Arg520Ile) c.1076G>T (p.Arg359Ile) c.971G>T (p.Arg324Ile) | |
3 | g.122275994A= | CA1397883173 | CASR | c.1378-6119A= (n.1378-6119A=) c.1560A= (p.Arg520=) c.1077A= (p.Arg359=) c.972A= (p.Arg324=) | |
3 | g.122275994A>C | CA354155428 | CASR | c.1378-6119A>C (n.1378-6119A>C) c.1560A>C (p.Arg520Ser) c.1077A>C (p.Arg359Ser) c.972A>C (p.Arg324Ser) | |
3 | g.122275994A>G | CA435424619 | CASR | c.1378-6119A>G (n.1378-6119A>G) c.1560A>G (p.Arg520=) c.1077A>G (p.Arg359=) c.972A>G (p.Arg324=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275994A>T | CA2569678 | CASR | c.1378-6119A>T (n.1378-6119A>T) c.1560A>T (p.Arg520Ser) c.1077A>T (p.Arg359Ser) c.972A>T (p.Arg324Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275994_122275995insGATGAGGCTGTGGGCAAAGCC | CA2758179111 | CASR | c.1378-6119_1378-6118insGATGAGGCTGTGGGCAAAGCC (n.1378-6119_1378-6118insGATGAGGCTGTGGGCAAAGCC) c.1560_1561insGATGAGGCTGTGGGCAAAGCC (p.Arg520_Leu521insAspGluAlaValGlyLysAla) c.1077_1078insGATGAGGCTGTGGGCAAAGCC (p.Arg359_Leu360insAspGluAlaValGlyLysAla) c.972_973insGATGAGGCTGTGGGCAAAGCC (p.Arg324_Leu325insAspGluAlaValGlyLysAla) | |
3 | g.122275995C>A | CA354155430 | CASR | c.1378-6118C>A (n.1378-6118C>A) c.1561C>A (p.Leu521Ile) c.1078C>A (p.Leu360Ile) c.973C>A (p.Leu325Ile) | |
3 | g.122275995C>G | CA354155432 | CASR | c.1378-6118C>G (n.1378-6118C>G) c.1561C>G (p.Leu521Val) c.1078C>G (p.Leu360Val) c.973C>G (p.Leu325Val) | ClinVar |
3 | g.122275995C>T | CA354155434 | CASR | c.1378-6118C>T (n.1378-6118C>T) c.1561C>T (p.Leu521Phe) c.1078C>T (p.Leu360Phe) c.973C>T (p.Leu325Phe) | ClinVar |
3 | g.122275996T>A | CA354155437 | CASR | c.1378-6117T>A (n.1378-6117T>A) c.1562T>A (p.Leu521His) c.1079T>A (p.Leu360His) c.974T>A (p.Leu325His) | |
3 | g.122275996T>C | CA354155439 | CASR | c.1378-6117T>C (n.1378-6117T>C) c.1562T>C (p.Leu521Pro) c.1079T>C (p.Leu360Pro) c.974T>C (p.Leu325Pro) | ClinVar |
3 | g.122275996T>G | CA354155441 | CASR | c.1378-6117T>G (n.1378-6117T>G) c.1562T>G (p.Leu521Arg) c.1079T>G (p.Leu360Arg) c.974T>G (p.Leu325Arg) | |
3 | g.122275997C>A | CA435424624 | CASR | c.1378-6116C>A (n.1378-6116C>A) c.1563C>A (p.Leu521=) c.1080C>A (p.Leu360=) c.975C>A (p.Leu325=) | |
3 | g.122275997C= | CA1397883174 | CASR | c.1378-6116C= (n.1378-6116C=) c.1563C= (p.Leu521=) c.1080C= (p.Leu360=) c.975C= (p.Leu325=) | |
3 | g.122275997C>G | CA435424625 | CASR | c.1378-6116C>G (n.1378-6116C>G) c.1563C>G (p.Leu521=) c.1080C>G (p.Leu360=) c.975C>G (p.Leu325=) | |
3 | g.122275997C>T | CA435424626 | CASR | c.1378-6116C>T (n.1378-6116C>T) c.1563C>T (p.Leu521=) c.1080C>T (p.Leu360=) c.975C>T (p.Leu325=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275998T>A | CA354155443 | CASR | c.1378-6115T>A (n.1378-6115T>A) c.1564T>A (p.Phe522Ile) c.1081T>A (p.Phe361Ile) c.976T>A (p.Phe326Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122275998T>C | CA2569679 | CASR | c.1378-6115T>C (n.1378-6115T>C) c.1564T>C (p.Phe522Leu) c.1081T>C (p.Phe361Leu) c.976T>C (p.Phe326Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122275998T>G | CA354155445 | CASR | c.1378-6115T>G (n.1378-6115T>G) c.1564T>G (p.Phe522Val) c.1081T>G (p.Phe361Val) c.976T>G (p.Phe326Val) | ClinVar dbSNP |
3 | g.122275998T= | CA1397883175 | CASR | c.1378-6115T= (n.1378-6115T=) c.1564T= (p.Phe522=) c.1081T= (p.Phe361=) c.976T= (p.Phe326=) | |
3 | g.122275999T>A | CA354155448 | CASR | c.1378-6114T>A (n.1378-6114T>A) c.1565T>A (p.Phe522Tyr) c.1082T>A (p.Phe361Tyr) c.977T>A (p.Phe326Tyr) | |
3 | g.122275999T>C | CA354155450 | CASR | c.1378-6114T>C (n.1378-6114T>C) c.1565T>C (p.Phe522Ser) c.1082T>C (p.Phe361Ser) c.977T>C (p.Phe326Ser) | ClinVar |
3 | g.122275999T>G | CA354155452 | CASR | c.1378-6114T>G (n.1378-6114T>G) c.1565T>G (p.Phe522Cys) c.1082T>G (p.Phe361Cys) c.977T>G (p.Phe326Cys) | ClinVar |
3 | g.122276000C>A | CA2569680 | CASR | c.1378-6113C>A (n.1378-6113C>A) c.1566C>A (p.Phe522Leu) c.1083C>A (p.Phe361Leu) c.978C>A (p.Phe326Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122276000C= | CA1397883176 | CASR | c.1378-6113C= (n.1378-6113C=) c.1566C= (p.Phe522=) c.1083C= (p.Phe361=) c.978C= (p.Phe326=) | |
3 | g.122276000C>G | CA354155455 | CASR | c.1378-6113C>G (n.1378-6113C>G) c.1566C>G (p.Phe522Leu) c.1083C>G (p.Phe361Leu) c.978C>G (p.Phe326Leu) | |
3 | g.122276000C>T | CA435424630 | CASR | c.1378-6113C>T (n.1378-6113C>T) c.1566C>T (p.Phe522=) c.1083C>T (p.Phe361=) c.978C>T (p.Phe326=) | ClinVar gnomAD v4 |
3 | g.122276001A>C | CA354155457 | CASR | c.1378-6112A>C (n.1378-6112A>C) c.1567A>C (p.Ile523Leu) c.1084A>C (p.Ile362Leu) c.979A>C (p.Ile327Leu) | |
3 | g.122276001A>G | CA354155459 | CASR | c.1378-6112A>G (n.1378-6112A>G) c.1567A>G (p.Ile523Val) c.1084A>G (p.Ile362Val) c.979A>G (p.Ile327Val) | ClinVar dbSNP |
3 | g.122276001A>T | CA354155461 | CASR | c.1378-6112A>T (n.1378-6112A>T) c.1567A>T (p.Ile523Phe) c.1084A>T (p.Ile362Phe) c.979A>T (p.Ile327Phe) | |
3 | g.122276002T>A | CA354155462 | CASR | c.1378-6111T>A (n.1378-6111T>A) c.1568T>A (p.Ile523Asn) c.1085T>A (p.Ile362Asn) c.980T>A (p.Ile327Asn) | |
3 | g.122276002T>C | CA354155464 | CASR | c.1378-6111T>C (n.1378-6111T>C) c.1568T>C (p.Ile523Thr) c.1085T>C (p.Ile362Thr) c.980T>C (p.Ile327Thr) | |
3 | g.122276002T>G | CA354155466 | CASR | c.1378-6111T>G (n.1378-6111T>G) c.1568T>G (p.Ile523Ser) c.1085T>G (p.Ile362Ser) c.980T>G (p.Ile327Ser) | |
3 | g.122276003C>A | CA435424636 | CASR | c.1378-6110C>A (n.1378-6110C>A) c.1569C>A (p.Ile523=) c.1086C>A (p.Ile362=) c.981C>A (p.Ile327=) | |
3 | g.122276003C>G | CA354155468 | CASR | c.1378-6110C>G (n.1378-6110C>G) c.1569C>G (p.Ile523Met) c.1086C>G (p.Ile362Met) c.981C>G (p.Ile327Met) | |
3 | g.122276003C>T | CA435424637 | CASR | c.1378-6110C>T (n.1378-6110C>T) c.1569C>T (p.Ile523=) c.1086C>T (p.Ile362=) c.981C>T (p.Ile327=) | |
3 | g.122276004A>C | CA354155471 | CASR | c.1378-6109A>C (n.1378-6109A>C) c.1570A>C (p.Asn524His) c.1087A>C (p.Asn363His) c.982A>C (p.Asn328His) | |
3 | g.122276004A>G | CA354155473 | CASR | c.1378-6109A>G (n.1378-6109A>G) c.1570A>G (p.Asn524Asp) c.1087A>G (p.Asn363Asp) c.982A>G (p.Asn328Asp) | |
3 | g.122276004A>T | CA354155470 | CASR | c.1378-6109A>T (n.1378-6109A>T) c.1570A>T (p.Asn524Tyr) c.1087A>T (p.Asn363Tyr) c.982A>T (p.Asn328Tyr) | |
3 | g.122276005A>C | CA354155476 | CASR | c.1378-6108A>C (n.1378-6108A>C) c.1571A>C (p.Asn524Thr) c.1088A>C (p.Asn363Thr) c.983A>C (p.Asn328Thr) | |
3 | g.122276005A>G | CA354155477 | CASR | c.1378-6108A>G (n.1378-6108A>G) c.1571A>G (p.Asn524Ser) c.1088A>G (p.Asn363Ser) c.983A>G (p.Asn328Ser) | |
3 | g.122276005A>T | CA354155479 | CASR | c.1378-6108A>T (n.1378-6108A>T) c.1571A>T (p.Asn524Ile) c.1088A>T (p.Asn363Ile) c.983A>T (p.Asn328Ile) | |
3 | g.122276006C>A | CA354155481 | CASR | c.1378-6107C>A (n.1378-6107C>A) c.1572C>A (p.Asn524Lys) c.1089C>A (p.Asn363Lys) c.984C>A (p.Asn328Lys) | |
3 | g.122276006C= | CA1397883177 | CASR | c.1378-6107C= (n.1378-6107C=) c.1572C= (p.Asn524=) c.1089C= (p.Asn363=) c.984C= (p.Asn328=) | |
3 | g.122276006C>G | CA354155483 | CASR | c.1378-6107C>G (n.1378-6107C>G) c.1572C>G (p.Asn524Lys) c.1089C>G (p.Asn363Lys) c.984C>G (p.Asn328Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122276006C>T | CA82746020 | CASR | c.1378-6107C>T (n.1378-6107C>T) c.1572C>T (p.Asn524=) c.1089C>T (p.Asn363=) c.984C>T (p.Asn328=) | ClinVar dbSNP gnomAD v4 |
3 | g.122276007G>A | CA2569681 | CASR | c.1378-6106G>A (n.1378-6106G>A) c.1573G>A (p.Glu525Lys) c.1090G>A (p.Glu364Lys) c.985G>A (p.Glu329Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122276007G>C | CA354155487 | CASR | c.1378-6106G>C (n.1378-6106G>C) c.1573G>C (p.Glu525Gln) c.1090G>C (p.Glu364Gln) c.985G>C (p.Glu329Gln) | |
3 | g.122276007G= | CA1397883178 | CASR | c.1378-6106G= (n.1378-6106G=) c.1573G= (p.Glu525=) c.1090G= (p.Glu364=) c.985G= (p.Glu329=) | |
3 | g.122276007G>T | CA354155489 | CASR | c.1378-6106G>T (n.1378-6106G>T) c.1573G>T (p.Glu525Ter) c.1090G>T (p.Glu364Ter) c.985G>T (p.Glu329Ter) | |
3 | g.122276008A= | CA1397883179 | CASR | c.1378-6105A= (n.1378-6105A=) c.1574A= (p.Glu525=) c.1091A= (p.Glu364=) c.986A= (p.Glu329=) | |
3 | g.122276008A>C | CA354155492 | CASR | c.1378-6105A>C (n.1378-6105A>C) c.1574A>C (p.Glu525Ala) c.1091A>C (p.Glu364Ala) c.986A>C (p.Glu329Ala) | ClinVar gnomAD v4 |
3 | g.122276008A>G | CA82746024 | CASR | c.1378-6105A>G (n.1378-6105A>G) c.1574A>G (p.Glu525Gly) c.1091A>G (p.Glu364Gly) c.986A>G (p.Glu329Gly) | ClinVar dbSNP |
3 | g.122276008A>T | CA354155494 | CASR | c.1378-6105A>T (n.1378-6105A>T) c.1574A>T (p.Glu525Val) c.1091A>T (p.Glu364Val) c.986A>T (p.Glu329Val) | |
3 | g.122276009G>A | CA82746028 | CASR | c.1378-6104G>A (n.1378-6104G>A) c.1575G>A (p.Glu525=) c.1092G>A (p.Glu364=) c.987G>A (p.Glu329=) | ClinVar dbSNP gnomAD v4 |
3 | g.122276009G>C | CA354155496 | CASR | c.1378-6104G>C (n.1378-6104G>C) c.1575G>C (p.Glu525Asp) c.1092G>C (p.Glu364Asp) c.987G>C (p.Glu329Asp) | |
3 | g.122276009G= | CA1397883180 | CASR | c.1378-6104G= (n.1378-6104G=) c.1575G= (p.Glu525=) c.1092G= (p.Glu364=) c.987G= (p.Glu329=) | |
3 | g.122276009G>T | CA354155498 | CASR | c.1378-6104G>T (n.1378-6104G>T) c.1575G>T (p.Glu525Asp) c.1092G>T (p.Glu364Asp) c.987G>T (p.Glu329Asp) | |
3 | g.122276010G>A | CA82746030 | CASR | c.1378-6103G>A (n.1378-6103G>A) c.1576G>A (p.Glu526Lys) c.1093G>A (p.Glu365Lys) c.988G>A (p.Glu330Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.122276010G>C | CA354155501 | CASR | c.1378-6103G>C (n.1378-6103G>C) c.1576G>C (p.Glu526Gln) c.1093G>C (p.Glu365Gln) c.988G>C (p.Glu330Gln) | |
3 | g.122276010G= | CA1397883181 | CASR | c.1378-6103G= (n.1378-6103G=) c.1576G= (p.Glu526=) c.1093G= (p.Glu365=) c.988G= (p.Glu330=) | |
3 | g.122276010G>T | CA354155503 | CASR | c.1378-6103G>T (n.1378-6103G>T) c.1576G>T (p.Glu526Ter) c.1093G>T (p.Glu365Ter) c.988G>T (p.Glu330Ter) | |
3 | g.122276011A>C | CA354155506 | CASR | c.1378-6102A>C (n.1378-6102A>C) c.1577A>C (p.Glu526Ala) c.1094A>C (p.Glu365Ala) c.989A>C (p.Glu330Ala) | |
3 | g.122276011A>G | CA354155508 | CASR | c.1378-6102A>G (n.1378-6102A>G) c.1577A>G (p.Glu526Gly) c.1094A>G (p.Glu365Gly) c.989A>G (p.Glu330Gly) | |
3 | g.122276011A>T | CA354155510 | CASR | c.1378-6102A>T (n.1378-6102A>T) c.1577A>T (p.Glu526Val) c.1094A>T (p.Glu365Val) c.989A>T (p.Glu330Val) | |
3 | g.122276012G>A | CA435424659 | CASR | c.1378-6101G>A (n.1378-6101G>A) c.1578G>A (p.Glu526=) c.1095G>A (p.Glu365=) c.990G>A (p.Glu330=) | gnomAD v4 |
3 | g.122276012G>C | CA354155512 | CASR | c.1378-6101G>C (n.1378-6101G>C) c.1578G>C (p.Glu526Asp) c.1095G>C (p.Glu365Asp) c.990G>C (p.Glu330Asp) | |
3 | g.122276012G>T | CA354155514 | CASR | c.1378-6101G>T (n.1378-6101G>T) c.1578G>T (p.Glu526Asp) c.1095G>T (p.Glu365Asp) c.990G>T (p.Glu330Asp) | |
3 | g.122276013A>C | CA354155517 | CASR | c.1378-6100A>C (n.1378-6100A>C) c.1579A>C (p.Lys527Gln) c.1096A>C (p.Lys366Gln) c.991A>C (p.Lys331Gln) | |
3 | g.122276013A>G | CA354155518 | CASR | c.1378-6100A>G (n.1378-6100A>G) c.1579A>G (p.Lys527Glu) c.1096A>G (p.Lys366Glu) c.991A>G (p.Lys331Glu) | |
3 | g.122276013A>T | CA354155519 | CASR | c.1378-6100A>T (n.1378-6100A>T) c.1579A>T (p.Lys527Ter) c.1096A>T (p.Lys366Ter) c.991A>T (p.Lys331Ter) | |
3 | g.122276014A>C | CA354155522 | CASR | c.1378-6099A>C (n.1378-6099A>C) c.1580A>C (p.Lys527Thr) c.1097A>C (p.Lys366Thr) c.992A>C (p.Lys331Thr) | |
3 | g.122276014A>G | CA354155524 | CASR | c.1378-6099A>G (n.1378-6099A>G) c.1580A>G (p.Lys527Arg) c.1097A>G (p.Lys366Arg) c.992A>G (p.Lys331Arg) | |
3 | g.122276014A>T | CA354155525 | CASR | c.1378-6099A>T (n.1378-6099A>T) c.1580A>T (p.Lys527Ile) c.1097A>T (p.Lys366Ile) c.992A>T (p.Lys331Ile) | |
3 | g.122276015A= | CA1397883182 | CASR | c.1378-6098A= (n.1378-6098A=) c.1581A= (p.Lys527=) c.1098A= (p.Lys366=) c.993A= (p.Lys331=) | |
3 | g.122276015A>C | CA354155528 | CASR | c.1378-6098A>C (n.1378-6098A>C) c.1581A>C (p.Lys527Asn) c.1098A>C (p.Lys366Asn) c.993A>C (p.Lys331Asn) | |
3 | g.122276015A>G | CA435424664 | CASR | c.1378-6098A>G (n.1378-6098A>G) c.1581A>G (p.Lys527=) c.1098A>G (p.Lys366=) c.993A>G (p.Lys331=) | |
3 | g.122276015A>T | CA354155530 | CASR | c.1378-6098A>T (n.1378-6098A>T) c.1581A>T (p.Lys527Asn) c.1098A>T (p.Lys366Asn) c.993A>T (p.Lys331Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.122276016A>C | CA354155532 | CASR | c.1378-6097A>C (n.1378-6097A>C) c.1582A>C (p.Ile528Leu) c.1099A>C (p.Ile367Leu) c.994A>C (p.Ile332Leu) | |
3 | g.122276016A>G | CA354155536 | CASR | c.1378-6097A>G (n.1378-6097A>G) c.1582A>G (p.Ile528Val) c.1099A>G (p.Ile367Val) c.994A>G (p.Ile332Val) | |
3 | g.122276016A>T | CA354155534 | CASR | c.1378-6097A>T (n.1378-6097A>T) c.1582A>T (p.Ile528Phe) c.1099A>T (p.Ile367Phe) c.994A>T (p.Ile332Phe) | |
3 | g.122276017T>A | CA354155537 | CASR | c.1378-6096T>A (n.1378-6096T>A) c.1583T>A (p.Ile528Asn) c.1100T>A (p.Ile367Asn) c.995T>A (p.Ile332Asn) | |
3 | g.122276017T>C | CA354155538 | CASR | c.1378-6096T>C (n.1378-6096T>C) c.1583T>C (p.Ile528Thr) c.1100T>C (p.Ile367Thr) c.995T>C (p.Ile332Thr) | |
3 | g.122276017T>G | CA354155539 | CASR | c.1378-6096T>G (n.1378-6096T>G) c.1583T>G (p.Ile528Ser) c.1100T>G (p.Ile367Ser) c.995T>G (p.Ile332Ser) | |
3 | g.122276018C>A | CA435424668 | CASR | c.1378-6095C>A (n.1378-6095C>A) c.1584C>A (p.Ile528=) c.1101C>A (p.Ile367=) c.996C>A (p.Ile332=) | gnomAD v4 |
3 | g.122276018C>G | CA354155540 | CASR | c.1378-6095C>G (n.1378-6095C>G) c.1584C>G (p.Ile528Met) c.1101C>G (p.Ile367Met) c.996C>G (p.Ile332Met) | |
3 | g.122276018C>T | CA435424669 | CASR | c.1378-6095C>T (n.1378-6095C>T) c.1584C>T (p.Ile528=) c.1101C>T (p.Ile367=) c.996C>T (p.Ile332=) | COSMIC |
3 | g.122276019C>A | CA354155541 | CASR | c.1378-6094C>A (n.1378-6094C>A) c.1585C>A (p.Leu529Met) c.1102C>A (p.Leu368Met) c.997C>A (p.Leu333Met) | |
3 | g.122276019C>G | CA354155542 | CASR | c.1378-6094C>G (n.1378-6094C>G) c.1585C>G (p.Leu529Val) c.1102C>G (p.Leu368Val) c.997C>G (p.Leu333Val) | |
3 | g.122276019C>T | CA435424672 | CASR | c.1378-6094C>T (n.1378-6094C>T) c.1585C>T (p.Leu529=) c.1102C>T (p.Leu368=) c.997C>T (p.Leu333=) | |
3 | g.122276020T>A | CA354155543 | CASR | c.1378-6093T>A (n.1378-6093T>A) c.1586T>A (p.Leu529Gln) c.1103T>A (p.Leu368Gln) c.998T>A (p.Leu333Gln) | |
3 | g.122276020T>C | CA354155544 | CASR | c.1378-6093T>C (n.1378-6093T>C) c.1586T>C (p.Leu529Pro) c.1103T>C (p.Leu368Pro) c.998T>C (p.Leu333Pro) | |
3 | g.122276020T>G | CA354155545 | CASR | c.1378-6093T>G (n.1378-6093T>G) c.1586T>G (p.Leu529Arg) c.1103T>G (p.Leu368Arg) c.998T>G (p.Leu333Arg) | |
3 | g.122276021G>A | CA2569682 | CASR | c.1378-6092G>A (n.1378-6092G>A) c.1587G>A (p.Leu529=) c.1104G>A (p.Leu368=) c.999G>A (p.Leu333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122276021G>C | CA435424676 | CASR | c.1378-6092G>C (n.1378-6092G>C) c.1587G>C (p.Leu529=) c.1104G>C (p.Leu368=) c.999G>C (p.Leu333=) | |
3 | g.122276021G= | CA1397883183 | CASR | c.1378-6092G= (n.1378-6092G=) c.1587G= (p.Leu529=) c.1104G= (p.Leu368=) c.999G= (p.Leu333=) | |
3 | g.122276021G>T | CA435424677 | CASR | c.1378-6092G>T (n.1378-6092G>T) c.1587G>T (p.Leu529=) c.1104G>T (p.Leu368=) c.999G>T (p.Leu333=) | |
3 | g.122276022T>A | CA354155546 | CASR | c.1378-6091T>A (n.1378-6091T>A) c.1588T>A (p.Trp530Arg) c.1105T>A (p.Trp369Arg) c.1000T>A (p.Trp334Arg) | |
3 | g.122276022T>C | CA354155547 | CASR | c.1378-6091T>C (n.1378-6091T>C) c.1588T>C (p.Trp530Arg) c.1105T>C (p.Trp369Arg) c.1000T>C (p.Trp334Arg) | |
3 | g.122276022T>G | CA354155548 | CASR | c.1378-6091T>G (n.1378-6091T>G) c.1588T>G (p.Trp530Gly) c.1105T>G (p.Trp369Gly) c.1000T>G (p.Trp334Gly) | |
3 | g.122276023G>A | CA354155551 | CASR | c.1378-6090G>A (n.1378-6090G>A) c.1589G>A (p.Trp530Ter) c.1106G>A (p.Trp369Ter) c.1001G>A (p.Trp334Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122276023G>C | CA354155549 | CASR | c.1378-6090G>C (n.1378-6090G>C) c.1589G>C (p.Trp530Ser) c.1106G>C (p.Trp369Ser) c.1001G>C (p.Trp334Ser) | |
3 | g.122276023G= | CA1397883184 | CASR | c.1378-6090G= (n.1378-6090G=) c.1589G= (p.Trp530=) c.1106G= (p.Trp369=) c.1001G= (p.Trp334=) | |
3 | g.122276023G>T | CA354155550 | CASR | c.1378-6090G>T (n.1378-6090G>T) c.1589G>T (p.Trp530Leu) c.1106G>T (p.Trp369Leu) c.1001G>T (p.Trp334Leu) | |
3 | g.122276024G>A | CA354155552 | CASR | c.1378-6089G>A (n.1378-6089G>A) c.1590G>A (p.Trp530Ter) c.1107G>A (p.Trp369Ter) c.1002G>A (p.Trp334Ter) | |
3 | g.122276024G>C | CA354155553 | CASR | c.1378-6089G>C (n.1378-6089G>C) c.1590G>C (p.Trp530Cys) c.1107G>C (p.Trp369Cys) c.1002G>C (p.Trp334Cys) | |
3 | g.122276024G>T | CA354155554 | CASR | c.1378-6089G>T (n.1378-6089G>T) c.1590G>T (p.Trp530Cys) c.1107G>T (p.Trp369Cys) c.1002G>T (p.Trp334Cys) | |
3 | g.122276025A>C | CA354155555 | CASR | c.1378-6088A>C (n.1378-6088A>C) c.1591A>C (p.Ser531Arg) c.1108A>C (p.Ser370Arg) c.1003A>C (p.Ser335Arg) | |
3 | g.122276025A>G | CA354155556 | CASR | c.1378-6088A>G (n.1378-6088A>G) c.1591A>G (p.Ser531Gly) c.1108A>G (p.Ser370Gly) c.1003A>G (p.Ser335Gly) | |
3 | g.122276025A>T | CA354155557 | CASR | c.1378-6088A>T (n.1378-6088A>T) c.1591A>T (p.Ser531Cys) c.1108A>T (p.Ser370Cys) c.1003A>T (p.Ser335Cys) | |
3 | g.122276026G>A | CA2569683 | CASR | c.1378-6087G>A (n.1378-6087G>A) c.1592G>A (p.Ser531Asn) c.1109G>A (p.Ser370Asn) c.1004G>A (p.Ser335Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122276026G>C | CA354155558 | CASR | c.1378-6087G>C (n.1378-6087G>C) c.1592G>C (p.Ser531Thr) c.1109G>C (p.Ser370Thr) c.1004G>C (p.Ser335Thr) | ClinVar |
3 | g.122276026G= | CA1397883185 | CASR | c.1378-6087G= (n.1378-6087G=) c.1592G= (p.Ser531=) c.1109G= (p.Ser370=) c.1004G= (p.Ser335=) | |
3 | g.122276026G>T | CA354155559 | CASR | c.1378-6087G>T (n.1378-6087G>T) c.1592G>T (p.Ser531Ile) c.1109G>T (p.Ser370Ile) c.1004G>T (p.Ser335Ile) | |
3 | g.122276027T>A | CA354155560 | CASR | c.1378-6086T>A (n.1378-6086T>A) c.1593T>A (p.Ser531Arg) c.1110T>A (p.Ser370Arg) c.1005T>A (p.Ser335Arg) | |
3 | g.122276027T>C | CA435424683 | CASR | c.1378-6086T>C (n.1378-6086T>C) c.1593T>C (p.Ser531=) c.1110T>C (p.Ser370=) c.1005T>C (p.Ser335=) | ClinVar gnomAD v4 |
3 | g.122276027T>G | CA354155561 | CASR | c.1378-6086T>G (n.1378-6086T>G) c.1593T>G (p.Ser531Arg) c.1110T>G (p.Ser370Arg) c.1005T>G (p.Ser335Arg) | |
3 | g.122276028G>A | CA354155562 | CASR | c.1378-6085G>A (n.1378-6085G>A) c.1594G>A (p.Gly532Arg) c.1111G>A (p.Gly371Arg) c.1006G>A (p.Gly336Arg) | ClinVar gnomAD v4 |
3 | g.122276028G>C | CA354155564 | CASR | c.1378-6085G>C (n.1378-6085G>C) c.1594G>C (p.Gly532Arg) c.1111G>C (p.Gly371Arg) c.1006G>C (p.Gly336Arg) | |
3 | g.122276028G>T | CA354155563 | CASR | c.1378-6085G>T (n.1378-6085G>T) c.1594G>T (p.Gly532Trp) c.1111G>T (p.Gly371Trp) c.1006G>T (p.Gly336Trp) | |
3 | g.122276029G>A | CA354155565 | CASR | c.1378-6084G>A (n.1378-6084G>A) c.1595G>A (p.Gly532Glu) c.1112G>A (p.Gly371Glu) c.1007G>A (p.Gly336Glu) | |
3 | g.122276029G>C | CA354155567 | CASR | c.1378-6084G>C (n.1378-6084G>C) c.1595G>C (p.Gly532Ala) c.1112G>C (p.Gly371Ala) c.1007G>C (p.Gly336Ala) | |
3 | g.122276029G>T | CA354155566 | CASR | c.1378-6084G>T (n.1378-6084G>T) c.1595G>T (p.Gly532Val) c.1112G>T (p.Gly371Val) c.1007G>T (p.Gly336Val) | |
3 | g.122276030G>A | CA435424688 | CASR | c.1378-6083G>A (n.1378-6083G>A) c.1596G>A (p.Gly532=) c.1113G>A (p.Gly371=) c.1008G>A (p.Gly336=) | ClinVar dbSNP gnomAD v4 |
3 | g.122276030G>C | CA435424690 | CASR | c.1378-6083G>C (n.1378-6083G>C) c.1596G>C (p.Gly532=) c.1113G>C (p.Gly371=) c.1008G>C (p.Gly336=) | |
3 | g.122276030G= | CA1397883186 | CASR | c.1378-6083G= (n.1378-6083G=) c.1596G= (p.Gly532=) c.1113G= (p.Gly371=) c.1008G= (p.Gly336=) | |
3 | g.122276030G>T | CA2569684 | CASR | c.1378-6083G>T (n.1378-6083G>T) c.1596G>T (p.Gly532=) c.1113G>T (p.Gly371=) c.1008G>T (p.Gly336=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122276031T>A | CA354155570 | CASR | c.1378-6082T>A (n.1378-6082T>A) c.1597T>A (p.Phe533Ile) c.1114T>A (p.Phe372Ile) c.1009T>A (p.Phe337Ile) | dbSNP |
3 | g.122276031T>C | CA354155568 | CASR | c.1378-6082T>C (n.1378-6082T>C) c.1597T>C (p.Phe533Leu) c.1114T>C (p.Phe372Leu) c.1009T>C (p.Phe337Leu) | |
3 | g.122276031T>G | CA354155569 | CASR | c.1378-6082T>G (n.1378-6082T>G) c.1597T>G (p.Phe533Val) c.1114T>G (p.Phe372Val) c.1009T>G (p.Phe337Val) | ClinVar |
3 | g.122276031T= | CA1397883187 | CASR | c.1378-6082T= (n.1378-6082T=) c.1597T= (p.Phe533=) c.1114T= (p.Phe372=) c.1009T= (p.Phe337=) | |
3 | g.122276032T>A | CA354155571 | CASR | c.1378-6081T>A (n.1378-6081T>A) c.1598T>A (p.Phe533Tyr) c.1115T>A (p.Phe372Tyr) c.1010T>A (p.Phe337Tyr) | ClinVar |
3 | g.122276032T>C | CA354155572 | CASR | c.1378-6081T>C (n.1378-6081T>C) c.1598T>C (p.Phe533Ser) c.1115T>C (p.Phe372Ser) c.1010T>C (p.Phe337Ser) | ClinVar dbSNP |
3 | g.122276032T>G | CA354155573 | CASR | c.1378-6081T>G (n.1378-6081T>G) c.1598T>G (p.Phe533Cys) c.1115T>G (p.Phe372Cys) c.1010T>G (p.Phe337Cys) |