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