| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283965_122283974del | CA2586972864 | CASR | c.1780_1789del (p.Glu594ThrfsTer24) c.2041_2050del (p.Glu681ThrfsTer24) c.2011_2020del (p.Glu671ThrfsTer24) c.1528_1537del (p.Glu510ThrfsTer24) c.1423_1432del (p.Glu475ThrfsTer24) | |
| 3 | g.122283968_122283979del | CA2573052061 | CASR | c.1783_1794del (p.Pro595_Trp598del) c.2044_2055del (p.Pro682_Trp685del) c.2014_2025del (p.Pro672_Trp675del) c.1531_1542del (p.Pro511_Trp514del) c.1426_1437del (p.Pro476_Trp479del) | ClinVar dbSNP |
| 3 | g.122283971C>A | CA354158309 | CASR | c.1786C>A (p.Gln596Lys) c.2047C>A (p.Gln683Lys) c.2017C>A (p.Gln673Lys) c.1534C>A (p.Gln512Lys) c.1429C>A (p.Gln477Lys) | |
| 3 | g.122283971C>G | CA354158310 | CASR | c.1786C>G (p.Gln596Glu) c.2047C>G (p.Gln683Glu) c.2017C>G (p.Gln673Glu) c.1534C>G (p.Gln512Glu) c.1429C>G (p.Gln477Glu) | |
| 3 | g.122283971C>T | CA354158311 | CASR | c.1786C>T (p.Gln596Ter) c.2047C>T (p.Gln683Ter) c.2017C>T (p.Gln673Ter) c.1534C>T (p.Gln512Ter) c.1429C>T (p.Gln477Ter) | |
| 3 | g.122283972A= | CA1397871382 | CASR | c.1787A= (p.Gln596=) c.2048A= (p.Gln683=) c.2018A= (p.Gln673=) c.1535A= (p.Gln512=) c.1430A= (p.Gln477=) | |
| 3 | g.122283972A>C | CA354158312 | CASR | c.1787A>C (p.Gln596Pro) c.2048A>C (p.Gln683Pro) c.2018A>C (p.Gln673Pro) c.1535A>C (p.Gln512Pro) c.1430A>C (p.Gln477Pro) | |
| 3 | g.122283972A>G | CA354158314 | CASR | c.1787A>G (p.Gln596Arg) c.2048A>G (p.Gln683Arg) c.2018A>G (p.Gln673Arg) c.1535A>G (p.Gln512Arg) c.1430A>G (p.Gln477Arg) | ClinVar dbSNP |
| 3 | g.122283972A>T | CA354158313 | CASR | c.1787A>T (p.Gln596Leu) c.2048A>T (p.Gln683Leu) c.2018A>T (p.Gln673Leu) c.1535A>T (p.Gln512Leu) c.1430A>T (p.Gln477Leu) | |
| 3 | g.122283973G>A | CA435424951 | CASR | c.1788G>A (p.Gln596=) c.2049G>A (p.Gln683=) c.2019G>A (p.Gln673=) c.1536G>A (p.Gln512=) c.1431G>A (p.Gln477=) | ClinVar |
| 3 | g.122283973G>C | CA354158315 | CASR | c.1788G>C (p.Gln596His) c.2049G>C (p.Gln683His) c.2019G>C (p.Gln673His) c.1536G>C (p.Gln512His) c.1431G>C (p.Gln477His) | ClinVar dbSNP |
| 3 | g.122283973G>T | CA354158316 | CASR | c.1788G>T (p.Gln596His) c.2049G>T (p.Gln683His) c.2019G>T (p.Gln673His) c.1536G>T (p.Gln512His) c.1431G>T (p.Gln477His) | |
| 3 | g.122283974G>A | CA354158317 | CASR | c.1789G>A (p.Asp597Asn) c.2050G>A (p.Asp684Asn) c.2020G>A (p.Asp674Asn) c.1537G>A (p.Asp513Asn) c.1432G>A (p.Asp478Asn) | gnomAD v4 |
| 3 | g.122283974G>C | CA354158318 | CASR | c.1789G>C (p.Asp597His) c.2050G>C (p.Asp684His) c.2020G>C (p.Asp674His) c.1537G>C (p.Asp513His) c.1432G>C (p.Asp478His) | |
| 3 | g.122283974G>T | CA354158319 | CASR | c.1789G>T (p.Asp597Tyr) c.2050G>T (p.Asp684Tyr) c.2020G>T (p.Asp674Tyr) c.1537G>T (p.Asp513Tyr) c.1432G>T (p.Asp478Tyr) | |
| 3 | g.122283975A>C | CA354158320 | CASR | c.1790A>C (p.Asp597Ala) c.2051A>C (p.Asp684Ala) c.2021A>C (p.Asp674Ala) c.1538A>C (p.Asp513Ala) c.1433A>C (p.Asp478Ala) | |
| 3 | g.122283975A>G | CA354158321 | CASR | c.1790A>G (p.Asp597Gly) c.2051A>G (p.Asp684Gly) c.2021A>G (p.Asp674Gly) c.1538A>G (p.Asp513Gly) c.1433A>G (p.Asp478Gly) | |
| 3 | g.122283975A>T | CA354158322 | CASR | c.1790A>T (p.Asp597Val) c.2051A>T (p.Asp684Val) c.2021A>T (p.Asp674Val) c.1538A>T (p.Asp513Val) c.1433A>T (p.Asp478Val) | ClinVar dbSNP |
| 3 | g.122283976C>A | CA354158323 | CASR | c.1791C>A (p.Asp597Glu) c.2052C>A (p.Asp684Glu) c.2022C>A (p.Asp674Glu) c.1539C>A (p.Asp513Glu) c.1434C>A (p.Asp478Glu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283976C= | CA1397871386 | CASR | c.1791C= (p.Asp597=) c.2052C= (p.Asp684=) c.2022C= (p.Asp674=) c.1539C= (p.Asp513=) c.1434C= (p.Asp478=) | |
| 3 | g.122283976C>G | CA354158324 | CASR | c.1791C>G (p.Asp597Glu) c.2052C>G (p.Asp684Glu) c.2022C>G (p.Asp674Glu) c.1539C>G (p.Asp513Glu) c.1434C>G (p.Asp478Glu) | |
| 3 | g.122283976C>T | CA435424957 | CASR | c.1791C>T (p.Asp597=) c.2052C>T (p.Asp684=) c.2022C>T (p.Asp674=) c.1539C>T (p.Asp513=) c.1434C>T (p.Asp478=) | ClinVar gnomAD v4 |
| 3 | g.122283977T>A | CA354158327 | CASR | c.1792T>A (p.Trp598Arg) c.2053T>A (p.Trp685Arg) c.2023T>A (p.Trp675Arg) c.1540T>A (p.Trp514Arg) c.1435T>A (p.Trp479Arg) | |
| 3 | g.122283977T>C | CA354158326 | CASR | c.1792T>C (p.Trp598Arg) c.2053T>C (p.Trp685Arg) c.2023T>C (p.Trp675Arg) c.1540T>C (p.Trp514Arg) c.1435T>C (p.Trp479Arg) | ClinVar dbSNP |
| 3 | g.122283977T>G | CA354158325 | CASR | c.1792T>G (p.Trp598Gly) c.2053T>G (p.Trp685Gly) c.2023T>G (p.Trp675Gly) c.1540T>G (p.Trp514Gly) c.1435T>G (p.Trp479Gly) | |
| 3 | g.122283978G>A | CA354158328 | CASR | c.1793G>A (p.Trp598Ter) c.2054G>A (p.Trp685Ter) c.2024G>A (p.Trp675Ter) c.1541G>A (p.Trp514Ter) c.1436G>A (p.Trp479Ter) | ClinVar COSMIC |
| 3 | g.122283978G>C | CA354158329 | CASR | c.1793G>C (p.Trp598Ser) c.2054G>C (p.Trp685Ser) c.2024G>C (p.Trp675Ser) c.1541G>C (p.Trp514Ser) c.1436G>C (p.Trp479Ser) | |
| 3 | g.122283978G>T | CA354158330 | CASR | c.1793G>T (p.Trp598Leu) c.2054G>T (p.Trp685Leu) c.2024G>T (p.Trp675Leu) c.1541G>T (p.Trp514Leu) c.1436G>T (p.Trp479Leu) | |
| 3 | g.122283979G>A | CA354158331 | CASR | c.1794G>A (p.Trp598Ter) c.2055G>A (p.Trp685Ter) c.2025G>A (p.Trp675Ter) c.1542G>A (p.Trp514Ter) c.1437G>A (p.Trp479Ter) | |
| 3 | g.122283979G>C | CA354158332 | CASR | c.1794G>C (p.Trp598Cys) c.2055G>C (p.Trp685Cys) c.2025G>C (p.Trp675Cys) c.1542G>C (p.Trp514Cys) c.1437G>C (p.Trp479Cys) | |
| 3 | g.122283979G>T | CA354158333 | CASR | c.1794G>T (p.Trp598Cys) c.2055G>T (p.Trp685Cys) c.2025G>T (p.Trp675Cys) c.1542G>T (p.Trp514Cys) c.1437G>T (p.Trp479Cys) | |
| 3 | g.122283980A= | CA1397871393 | CASR | c.1795A= (p.Thr599=) c.2056A= (p.Thr686=) c.2026A= (p.Thr676=) c.1543A= (p.Thr515=) c.1438A= (p.Thr480=) | |
| 3 | g.122283980A>C | CA354158334 | CASR | c.1795A>C (p.Thr599Pro) c.2056A>C (p.Thr686Pro) c.2026A>C (p.Thr676Pro) c.1543A>C (p.Thr515Pro) c.1438A>C (p.Thr480Pro) | |
| 3 | g.122283980A>G | CA354158335 | CASR | c.1795A>G (p.Thr599Ala) c.2056A>G (p.Thr686Ala) c.2026A>G (p.Thr676Ala) c.1543A>G (p.Thr515Ala) c.1438A>G (p.Thr480Ala) | |
| 3 | g.122283980A>T | CA354158336 | CASR | c.1795A>T (p.Thr599Ser) c.2056A>T (p.Thr686Ser) c.2026A>T (p.Thr676Ser) c.1543A>T (p.Thr515Ser) c.1438A>T (p.Thr480Ser) | ClinVar dbSNP |
| 3 | g.122283981C>A | CA354158337 | CASR | c.1796C>A (p.Thr599Lys) c.2057C>A (p.Thr686Lys) c.2027C>A (p.Thr676Lys) c.1544C>A (p.Thr515Lys) c.1439C>A (p.Thr480Lys) | |
| 3 | g.122283981C= | CA1397871397 | CASR | c.1796C= (p.Thr599=) c.2057C= (p.Thr686=) c.2027C= (p.Thr676=) c.1544C= (p.Thr515=) c.1439C= (p.Thr480=) | |
| 3 | g.122283981C>G | CA2569770 | CASR | c.1796C>G (p.Thr599Arg) c.2057C>G (p.Thr686Arg) c.2027C>G (p.Thr676Arg) c.1544C>G (p.Thr515Arg) c.1439C>G (p.Thr480Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283981C>T | CA2569769 | CASR | c.1796C>T (p.Thr599Met) c.2057C>T (p.Thr686Met) c.2027C>T (p.Thr676Met) c.1544C>T (p.Thr515Met) c.1439C>T (p.Thr480Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283982G>A | CA2569771 | CASR | c.1797G>A (p.Thr599=) c.2058G>A (p.Thr686=) c.2028G>A (p.Thr676=) c.1545G>A (p.Thr515=) c.1440G>A (p.Thr480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283982G>C | CA435424967 | CASR | c.1797G>C (p.Thr599=) c.2058G>C (p.Thr686=) c.2028G>C (p.Thr676=) c.1545G>C (p.Thr515=) c.1440G>C (p.Thr480=) | ClinVar |
| 3 | g.122283982G= | CA1397871409 | CASR | c.1797G= (p.Thr599=) c.2058G= (p.Thr686=) c.2028G= (p.Thr676=) c.1545G= (p.Thr515=) c.1440G= (p.Thr480=) | |
| 3 | g.122283982G>T | CA435424966 | CASR | c.1797G>T (p.Thr599=) c.2058G>T (p.Thr686=) c.2028G>T (p.Thr676=) c.1545G>T (p.Thr515=) c.1440G>T (p.Thr480=) | |
| 3 | g.122283983T>A | CA354158340 | CASR | c.1798T>A (p.Cys600Ser) c.2059T>A (p.Cys687Ser) c.2029T>A (p.Cys677Ser) c.1546T>A (p.Cys516Ser) c.1441T>A (p.Cys481Ser) | |
| 3 | g.122283983T>C | CA354158338 | CASR | c.1798T>C (p.Cys600Arg) c.2059T>C (p.Cys687Arg) c.2029T>C (p.Cys677Arg) c.1546T>C (p.Cys516Arg) c.1441T>C (p.Cys481Arg) | |
| 3 | g.122283983T>G | CA354158339 | CASR | c.1798T>G (p.Cys600Gly) c.2059T>G (p.Cys687Gly) c.2029T>G (p.Cys677Gly) c.1546T>G (p.Cys516Gly) c.1441T>G (p.Cys481Gly) | |
| 3 | g.122283983dup | CA2586972865 | CASR | c.1798dup (p.Cys600LeufsTer?) c.2059dup (p.Cys687LeufsTer?) c.2029dup (p.Cys677LeufsTer?) c.1546dup (p.Cys516LeufsTer?) c.1441dup (p.Cys481LeufsTer?) | |
| 3 | g.122283984del | CA2573136458 | CASR | c.1799del (p.Cys600SerfsTer21) c.2060del (p.Cys687SerfsTer21) c.2030del (p.Cys677SerfsTer21) c.1547del (p.Cys516SerfsTer21) c.1442del (p.Cys481SerfsTer21) | ClinVar dbSNP |
| 3 | g.122283984G>A | CA354158341 | CASR | c.1799G>A (p.Cys600Tyr) c.2060G>A (p.Cys687Tyr) c.2030G>A (p.Cys677Tyr) c.1547G>A (p.Cys516Tyr) c.1442G>A (p.Cys481Tyr) | |
| 3 | g.122283984G>C | CA354158342 | CASR | c.1799G>C (p.Cys600Ser) c.2060G>C (p.Cys687Ser) c.2030G>C (p.Cys677Ser) c.1547G>C (p.Cys516Ser) c.1442G>C (p.Cys481Ser) | dbSNP |
| 3 | g.122283984G= | CA1397871415 | CASR | c.1799G= (p.Cys600=) c.2060G= (p.Cys687=) c.2030G= (p.Cys677=) c.1547G= (p.Cys516=) c.1442G= (p.Cys481=) | |
| 3 | g.122283984G>T | CA354158343 | CASR | c.1799G>T (p.Cys600Phe) c.2060G>T (p.Cys687Phe) c.2030G>T (p.Cys677Phe) c.1547G>T (p.Cys516Phe) c.1442G>T (p.Cys481Phe) | |
| 3 | g.122283985C>A | CA354158344 | CASR | c.1800C>A (p.Cys600Ter) c.2061C>A (p.Cys687Ter) c.2031C>A (p.Cys677Ter) c.1548C>A (p.Cys516Ter) c.1443C>A (p.Cys481Ter) | |
| 3 | g.122283985C= | CA1397871417 | CASR | c.1800C= (p.Cys600=) c.2061C= (p.Cys687=) c.2031C= (p.Cys677=) c.1548C= (p.Cys516=) c.1443C= (p.Cys481=) | |
| 3 | g.122283985C>G | CA354158345 | CASR | c.1800C>G (p.Cys600Trp) c.2061C>G (p.Cys687Trp) c.2031C>G (p.Cys677Trp) c.1548C>G (p.Cys516Trp) c.1443C>G (p.Cys481Trp) | |
| 3 | g.122283985C>T | CA82748721 | CASR | c.1800C>T (p.Cys600=) c.2061C>T (p.Cys687=) c.2031C>T (p.Cys677=) c.1548C>T (p.Cys516=) c.1443C>T (p.Cys481=) | ClinVar dbSNP |
| 3 | g.122283986C>A | CA354158346 | CASR | c.1801C>A (p.Arg601Ser) c.2062C>A (p.Arg688Ser) c.2032C>A (p.Arg678Ser) c.1549C>A (p.Arg517Ser) c.1444C>A (p.Arg482Ser) | |
| 3 | g.122283986C= | CA1397871419 | CASR | c.1801C= (p.Arg601=) c.2062C= (p.Arg688=) c.2032C= (p.Arg678=) c.1549C= (p.Arg517=) c.1444C= (p.Arg482=) | |
| 3 | g.122283986C>G | CA354158347 | CASR | c.1801C>G (p.Arg601Gly) c.2062C>G (p.Arg688Gly) c.2032C>G (p.Arg678Gly) c.1549C>G (p.Arg517Gly) c.1444C>G (p.Arg482Gly) | |
| 3 | g.122283986C>T | CA354158348 | CASR | c.1801C>T (p.Arg601Cys) c.2062C>T (p.Arg688Cys) c.2032C>T (p.Arg678Cys) c.1549C>T (p.Arg517Cys) c.1444C>T (p.Arg482Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283987G>A | CA354158349 | CASR | c.1802G>A (p.Arg601His) c.2063G>A (p.Arg688His) c.2033G>A (p.Arg678His) c.1550G>A (p.Arg517His) c.1445G>A (p.Arg482His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122283987G>C | CA354158350 | CASR | c.1802G>C (p.Arg601Pro) c.2063G>C (p.Arg688Pro) c.2033G>C (p.Arg678Pro) c.1550G>C (p.Arg517Pro) c.1445G>C (p.Arg482Pro) | |
| 3 | g.122283987G= | CA1397871425 | CASR | c.1802G= (p.Arg601=) c.2063G= (p.Arg688=) c.2033G= (p.Arg678=) c.1550G= (p.Arg517=) c.1445G= (p.Arg482=) | |
| 3 | g.122283987G>T | CA354158351 | CASR | c.1802G>T (p.Arg601Leu) c.2063G>T (p.Arg688Leu) c.2033G>T (p.Arg678Leu) c.1550G>T (p.Arg517Leu) c.1445G>T (p.Arg482Leu) | |
| 3 | g.122283988C>A | CA435424974 | CASR | c.1803C>A (p.Arg601=) c.2064C>A (p.Arg688=) c.2034C>A (p.Arg678=) c.1551C>A (p.Arg517=) c.1446C>A (p.Arg482=) | |
| 3 | g.122283988C= | CA1397871430 | CASR | c.1803C= (p.Arg601=) c.2064C= (p.Arg688=) c.2034C= (p.Arg678=) c.1551C= (p.Arg517=) c.1446C= (p.Arg482=) | |
| 3 | g.122283988C>G | CA435424976 | CASR | c.1803C>G (p.Arg601=) c.2064C>G (p.Arg688=) c.2034C>G (p.Arg678=) c.1551C>G (p.Arg517=) c.1446C>G (p.Arg482=) | |
| 3 | g.122283988C>T | CA82748722 | CASR | c.1803C>T (p.Arg601=) c.2064C>T (p.Arg688=) c.2034C>T (p.Arg678=) c.1551C>T (p.Arg517=) c.1446C>T (p.Arg482=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283989C>A | CA354158353 | CASR | c.1804C>A (p.Leu602Met) c.2065C>A (p.Leu689Met) c.2035C>A (p.Leu679Met) c.1552C>A (p.Leu518Met) c.1447C>A (p.Leu483Met) | COSMIC |
| 3 | g.122283989C>G | CA354158352 | CASR | c.1804C>G (p.Leu602Val) c.2065C>G (p.Leu689Val) c.2035C>G (p.Leu679Val) c.1552C>G (p.Leu518Val) c.1447C>G (p.Leu483Val) | |
| 3 | g.122283989C>T | CA435424978 | CASR | c.1804C>T (p.Leu602=) c.2065C>T (p.Leu689=) c.2035C>T (p.Leu679=) c.1552C>T (p.Leu518=) c.1447C>T (p.Leu483=) | |
| 3 | g.122283990T>A | CA354158354 | CASR | c.1805T>A (p.Leu602Gln) c.2066T>A (p.Leu689Gln) c.2036T>A (p.Leu679Gln) c.1553T>A (p.Leu518Gln) c.1448T>A (p.Leu483Gln) | |
| 3 | g.122283990T>C | CA354158356 | CASR | c.1805T>C (p.Leu602Pro) c.2066T>C (p.Leu689Pro) c.2036T>C (p.Leu679Pro) c.1553T>C (p.Leu518Pro) c.1448T>C (p.Leu483Pro) | ClinVar dbSNP |
| 3 | g.122283990T>G | CA354158355 | CASR | c.1805T>G (p.Leu602Arg) c.2066T>G (p.Leu689Arg) c.2036T>G (p.Leu679Arg) c.1553T>G (p.Leu518Arg) c.1448T>G (p.Leu483Arg) | ClinVar dbSNP |
| 3 | g.122283990T= | CA1397871434 | CASR | c.1805T= (p.Leu602=) c.2066T= (p.Leu689=) c.2036T= (p.Leu679=) c.1553T= (p.Leu518=) c.1448T= (p.Leu483=) | |
| 3 | g.122283991G>A | CA435424986 | CASR | c.1806G>A (p.Leu602=) c.2067G>A (p.Leu689=) c.2037G>A (p.Leu679=) c.1554G>A (p.Leu518=) c.1449G>A (p.Leu483=) | |
| 3 | g.122283991G>C | CA435424985 | CASR | c.1806G>C (p.Leu602=) c.2067G>C (p.Leu689=) c.2037G>C (p.Leu679=) c.1554G>C (p.Leu518=) c.1449G>C (p.Leu483=) | |
| 3 | g.122283991G>T | CA435424984 | CASR | c.1806G>T (p.Leu602=) c.2067G>T (p.Leu689=) c.2037G>T (p.Leu679=) c.1554G>T (p.Leu518=) c.1449G>T (p.Leu483=) | |
| 3 | g.122283992C>A | CA354158357 | CASR | c.1807C>A (p.Arg603Ser) c.2068C>A (p.Arg690Ser) c.2038C>A (p.Arg680Ser) c.1555C>A (p.Arg519Ser) c.1450C>A (p.Arg484Ser) | |
| 3 | g.122283992C= | CA1397871443 | CASR | c.1807C= (p.Arg603=) c.2068C= (p.Arg690=) c.2038C= (p.Arg680=) c.1555C= (p.Arg519=) c.1450C= (p.Arg484=) | |
| 3 | g.122283992C>G | CA354158358 | CASR | c.1807C>G (p.Arg603Gly) c.2068C>G (p.Arg690Gly) c.2038C>G (p.Arg680Gly) c.1555C>G (p.Arg519Gly) c.1450C>G (p.Arg484Gly) | |
| 3 | g.122283992C>T | CA2569772 | CASR | c.1807C>T (p.Arg603Cys) c.2068C>T (p.Arg690Cys) c.2038C>T (p.Arg680Cys) c.1555C>T (p.Arg519Cys) c.1450C>T (p.Arg484Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283993G>A | CA2569773 | CASR | c.1808G>A (p.Arg603His) c.2069G>A (p.Arg690His) c.2039G>A (p.Arg680His) c.1556G>A (p.Arg519His) c.1451G>A (p.Arg484His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283993G>C | CA354158359 | CASR | c.1808G>C (p.Arg603Pro) c.2069G>C (p.Arg690Pro) c.2039G>C (p.Arg680Pro) c.1556G>C (p.Arg519Pro) c.1451G>C (p.Arg484Pro) | |
| 3 | g.122283993G= | CA1397871447 | CASR | c.1808G= (p.Arg603=) c.2069G= (p.Arg690=) c.2039G= (p.Arg680=) c.1556G= (p.Arg519=) c.1451G= (p.Arg484=) | |
| 3 | g.122283993G>T | CA354158360 | CASR | c.1808G>T (p.Arg603Leu) c.2069G>T (p.Arg690Leu) c.2039G>T (p.Arg680Leu) c.1556G>T (p.Arg519Leu) c.1451G>T (p.Arg484Leu) | |
| 3 | g.122283994C>A | CA435424992 | CASR | c.1809C>A (p.Arg603=) c.2070C>A (p.Arg690=) c.2040C>A (p.Arg680=) c.1557C>A (p.Arg519=) c.1452C>A (p.Arg484=) | |
| 3 | g.122283994C>G | CA435424993 | CASR | c.1809C>G (p.Arg603=) c.2070C>G (p.Arg690=) c.2040C>G (p.Arg680=) c.1557C>G (p.Arg519=) c.1452C>G (p.Arg484=) | |
| 3 | g.122283994C>T | CA435424994 | CASR | c.1809C>T (p.Arg603=) c.2070C>T (p.Arg690=) c.2040C>T (p.Arg680=) c.1557C>T (p.Arg519=) c.1452C>T (p.Arg484=) | |
| 3 | g.122283995C>A | CA354158361 | CASR | c.1810C>A (p.Gln604Lys) c.2071C>A (p.Gln691Lys) c.2041C>A (p.Gln681Lys) c.1558C>A (p.Gln520Lys) c.1453C>A (p.Gln485Lys) | |
| 3 | g.122283995C>G | CA354158362 | CASR | c.1810C>G (p.Gln604Glu) c.2071C>G (p.Gln691Glu) c.2041C>G (p.Gln681Glu) c.1558C>G (p.Gln520Glu) c.1453C>G (p.Gln485Glu) | |
| 3 | g.122283995C>T | CA354158363 | CASR | c.1810C>T (p.Gln604Ter) c.2071C>T (p.Gln691Ter) c.2041C>T (p.Gln681Ter) c.1558C>T (p.Gln520Ter) c.1453C>T (p.Gln485Ter) | |
| 3 | g.122283996A>C | CA354158364 | CASR | c.1811A>C (p.Gln604Pro) c.2072A>C (p.Gln691Pro) c.2042A>C (p.Gln681Pro) c.1559A>C (p.Gln520Pro) c.1454A>C (p.Gln485Pro) | |
| 3 | g.122283996A>G | CA354158365 | CASR | c.1811A>G (p.Gln604Arg) c.2072A>G (p.Gln691Arg) c.2042A>G (p.Gln681Arg) c.1559A>G (p.Gln520Arg) c.1454A>G (p.Gln485Arg) | ClinVar dbSNP |
| 3 | g.122283996A>T | CA354158366 | CASR | c.1811A>T (p.Gln604Leu) c.2072A>T (p.Gln691Leu) c.2042A>T (p.Gln681Leu) c.1559A>T (p.Gln520Leu) c.1454A>T (p.Gln485Leu) | |
| 3 | g.122283997G>A | CA435424996 | CASR | c.1812G>A (p.Gln604=) c.2073G>A (p.Gln691=) c.2043G>A (p.Gln681=) c.1560G>A (p.Gln520=) c.1455G>A (p.Gln485=) | |
| 3 | g.122283997G>C | CA354158367 | CASR | c.1812G>C (p.Gln604His) c.2073G>C (p.Gln691His) c.2043G>C (p.Gln681His) c.1560G>C (p.Gln520His) c.1455G>C (p.Gln485His) | |
| 3 | g.122283997G= | CA1397871451 | CASR | c.1812G= (p.Gln604=) c.2073G= (p.Gln691=) c.2043G= (p.Gln681=) c.1560G= (p.Gln520=) c.1455G= (p.Gln485=) | |
| 3 | g.122283997G>T | CA119479 | CASR | c.1812G>T (p.Gln604His) c.2073G>T (p.Gln691His) c.2043G>T (p.Gln681His) c.1560G>T (p.Gln520His) c.1455G>T (p.Gln485His) | ClinVar dbSNP |
| 3 | g.122283998C>A | CA354158368 | CASR | c.1813C>A (p.Pro605Thr) c.2074C>A (p.Pro692Thr) c.2044C>A (p.Pro682Thr) c.1561C>A (p.Pro521Thr) c.1456C>A (p.Pro486Thr) | |
| 3 | g.122283998C>G | CA354158369 | CASR | c.1813C>G (p.Pro605Ala) c.2074C>G (p.Pro692Ala) c.2044C>G (p.Pro682Ala) c.1561C>G (p.Pro521Ala) c.1456C>G (p.Pro486Ala) | |
| 3 | g.122283998C>T | CA354158370 | CASR | c.1813C>T (p.Pro605Ser) c.2074C>T (p.Pro692Ser) c.2044C>T (p.Pro682Ser) c.1561C>T (p.Pro521Ser) c.1456C>T (p.Pro486Ser) | gnomAD v4 |
| 3 | g.122283999del | CA2580068643 | CASR | c.1814del (p.Pro605ArgfsTer16) c.2075del (p.Pro692ArgfsTer16) c.2045del (p.Pro682ArgfsTer16) c.1562del (p.Pro521ArgfsTer16) c.1457del (p.Pro486ArgfsTer16) | ClinVar |
| 3 | g.122283999C>A | CA354158371 | CASR | c.1814C>A (p.Pro605Gln) c.2075C>A (p.Pro692Gln) c.2045C>A (p.Pro682Gln) c.1562C>A (p.Pro521Gln) c.1457C>A (p.Pro486Gln) | |
| 3 | g.122283999C= | CA1397871455 | CASR | c.1814C= (p.Pro605=) c.2075C= (p.Pro692=) c.2045C= (p.Pro682=) c.1562C= (p.Pro521=) c.1457C= (p.Pro486=) | |
| 3 | g.122283999C>G | CA354158372 | CASR | c.1814C>G (p.Pro605Arg) c.2075C>G (p.Pro692Arg) c.2045C>G (p.Pro682Arg) c.1562C>G (p.Pro521Arg) c.1457C>G (p.Pro486Arg) | |
| 3 | g.122283999C>T | CA354158373 | CASR | c.1814C>T (p.Pro605Leu) c.2075C>T (p.Pro692Leu) c.2045C>T (p.Pro682Leu) c.1562C>T (p.Pro521Leu) c.1457C>T (p.Pro486Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284000G>A | CA2569774 | CASR | c.1815G>A (p.Pro605=) c.2076G>A (p.Pro692=) c.2046G>A (p.Pro682=) c.1563G>A (p.Pro521=) c.1458G>A (p.Pro486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284000G>C | CA435425001 | CASR | c.1815G>C (p.Pro605=) c.2076G>C (p.Pro692=) c.2046G>C (p.Pro682=) c.1563G>C (p.Pro521=) c.1458G>C (p.Pro486=) | |
| 3 | g.122284000G= | CA1397871458 | CASR | c.1815G= (p.Pro605=) c.2076G= (p.Pro692=) c.2046G= (p.Pro682=) c.1563G= (p.Pro521=) c.1458G= (p.Pro486=) | |
| 3 | g.122284000G>T | CA435425002 | CASR | c.1815G>T (p.Pro605=) c.2076G>T (p.Pro692=) c.2046G>T (p.Pro682=) c.1563G>T (p.Pro521=) c.1458G>T (p.Pro486=) | |
| 3 | g.122284000_122284001delinsTT | CA2740094571 | CASR | c.1815_1816delinsTT (p.Ala606Ser) c.2076_2077delinsTT (p.Ala693Ser) c.2046_2047delinsTT (p.Ala683Ser) c.1563_1564delinsTT (p.Ala522Ser) c.1458_1459delinsTT (p.Ala487Ser) | ClinVar |
| 3 | g.122284001G>A | CA354158374 | CASR | c.1816G>A (p.Ala606Thr) c.2077G>A (p.Ala693Thr) c.2047G>A (p.Ala683Thr) c.1564G>A (p.Ala522Thr) c.1459G>A (p.Ala487Thr) | |
| 3 | g.122284001G>C | CA354158375 | CASR | c.1816G>C (p.Ala606Pro) c.2077G>C (p.Ala693Pro) c.2047G>C (p.Ala683Pro) c.1564G>C (p.Ala522Pro) c.1459G>C (p.Ala487Pro) | |
| 3 | g.122284001G>T | CA354158376 | CASR | c.1816G>T (p.Ala606Ser) c.2077G>T (p.Ala693Ser) c.2047G>T (p.Ala683Ser) c.1564G>T (p.Ala522Ser) c.1459G>T (p.Ala487Ser) | |
| 3 | g.122284002C>A | CA354158377 | CASR | c.1817C>A (p.Ala606Asp) c.2078C>A (p.Ala693Asp) c.2048C>A (p.Ala683Asp) c.1565C>A (p.Ala522Asp) c.1460C>A (p.Ala487Asp) | |
| 3 | g.122284002C= | CA1397871461 | CASR | c.1817C= (p.Ala606=) c.2078C= (p.Ala693=) c.2048C= (p.Ala683=) c.1565C= (p.Ala522=) c.1460C= (p.Ala487=) | |
| 3 | g.122284002C>G | CA354158378 | CASR | c.1817C>G (p.Ala606Gly) c.2078C>G (p.Ala693Gly) c.2048C>G (p.Ala683Gly) c.1565C>G (p.Ala522Gly) c.1460C>G (p.Ala487Gly) | |
| 3 | g.122284002C>T | CA354158379 | CASR | c.1817C>T (p.Ala606Val) c.2078C>T (p.Ala693Val) c.2048C>T (p.Ala683Val) c.1565C>T (p.Ala522Val) c.1460C>T (p.Ala487Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284003C>A | CA435425010 | CASR | c.1818C>A (p.Ala606=) c.2079C>A (p.Ala693=) c.2049C>A (p.Ala683=) c.1566C>A (p.Ala522=) c.1461C>A (p.Ala487=) | ClinVar dbSNP gnomAD v2 |
| 3 | g.122284003C= | CA1397871465 | CASR | c.1818C= (p.Ala606=) c.2079C= (p.Ala693=) c.2049C= (p.Ala683=) c.1566C= (p.Ala522=) c.1461C= (p.Ala487=) | |
| 3 | g.122284003C>G | CA435425011 | CASR | c.1818C>G (p.Ala606=) c.2079C>G (p.Ala693=) c.2049C>G (p.Ala683=) c.1566C>G (p.Ala522=) c.1461C>G (p.Ala487=) | |
| 3 | g.122284003C>T | CA435425012 | CASR | c.1818C>T (p.Ala606=) c.2079C>T (p.Ala693=) c.2049C>T (p.Ala683=) c.1566C>T (p.Ala522=) c.1461C>T (p.Ala487=) | |
| 3 | g.122284004T>A | CA354158382 | CASR | c.1819T>A (p.Phe607Ile) c.2080T>A (p.Phe694Ile) c.2050T>A (p.Phe684Ile) c.1567T>A (p.Phe523Ile) c.1462T>A (p.Phe488Ile) | |
| 3 | g.122284004T>C | CA354158381 | CASR | c.1819T>C (p.Phe607Leu) c.2080T>C (p.Phe694Leu) c.2050T>C (p.Phe684Leu) c.1567T>C (p.Phe523Leu) c.1462T>C (p.Phe488Leu) | |
| 3 | g.122284004T>G | CA354158380 | CASR | c.1819T>G (p.Phe607Val) c.2080T>G (p.Phe694Val) c.2050T>G (p.Phe684Val) c.1567T>G (p.Phe523Val) c.1462T>G (p.Phe488Val) | |
| 3 | g.122284005T>A | CA354158385 | CASR | c.1820T>A (p.Phe607Tyr) c.2081T>A (p.Phe694Tyr) c.2051T>A (p.Phe684Tyr) c.1568T>A (p.Phe523Tyr) c.1463T>A (p.Phe488Tyr) | |
| 3 | g.122284005T>C | CA354158383 | CASR | c.1820T>C (p.Phe607Ser) c.2081T>C (p.Phe694Ser) c.2051T>C (p.Phe684Ser) c.1568T>C (p.Phe523Ser) c.1463T>C (p.Phe488Ser) | |
| 3 | g.122284005T>G | CA354158384 | CASR | c.1820T>G (p.Phe607Cys) c.2081T>G (p.Phe694Cys) c.2051T>G (p.Phe684Cys) c.1568T>G (p.Phe523Cys) c.1463T>G (p.Phe488Cys) | |
| 3 | g.122284006T>A | CA354158386 | CASR | c.1821T>A (p.Phe607Leu) c.2082T>A (p.Phe694Leu) c.2052T>A (p.Phe684Leu) c.1569T>A (p.Phe523Leu) c.1464T>A (p.Phe488Leu) | |
| 3 | g.122284006T>C | CA435425020 | CASR | c.1821T>C (p.Phe607=) c.2082T>C (p.Phe694=) c.2052T>C (p.Phe684=) c.1569T>C (p.Phe523=) c.1464T>C (p.Phe488=) | |
| 3 | g.122284006T>G | CA354158387 | CASR | c.1821T>G (p.Phe607Leu) c.2082T>G (p.Phe694Leu) c.2052T>G (p.Phe684Leu) c.1569T>G (p.Phe523Leu) c.1464T>G (p.Phe488Leu) | |
| 3 | g.122284007G>A | CA354158388 | CASR | c.1822G>A (p.Gly608Ser) c.2083G>A (p.Gly695Ser) c.2053G>A (p.Gly685Ser) c.1570G>A (p.Gly524Ser) c.1465G>A (p.Gly489Ser) | |
| 3 | g.122284007G>C | CA354158389 | CASR | c.1822G>C (p.Gly608Arg) c.2083G>C (p.Gly695Arg) c.2053G>C (p.Gly685Arg) c.1570G>C (p.Gly524Arg) c.1465G>C (p.Gly489Arg) | |
| 3 | g.122284007G>T | CA354158390 | CASR | c.1822G>T (p.Gly608Cys) c.2083G>T (p.Gly695Cys) c.2053G>T (p.Gly685Cys) c.1570G>T (p.Gly524Cys) c.1465G>T (p.Gly489Cys) | |
| 3 | g.122284008G>A | CA354158391 | CASR | c.1823G>A (p.Gly608Asp) c.2084G>A (p.Gly695Asp) c.2054G>A (p.Gly685Asp) c.1571G>A (p.Gly524Asp) c.1466G>A (p.Gly489Asp) | ClinVar gnomAD v4 COSMIC |
| 3 | g.122284008G>C | CA354158393 | CASR | c.1823G>C (p.Gly608Ala) c.2084G>C (p.Gly695Ala) c.2054G>C (p.Gly685Ala) c.1571G>C (p.Gly524Ala) c.1466G>C (p.Gly489Ala) | ClinVar dbSNP |
| 3 | g.122284008G= | CA1397871469 | CASR | c.1823G= (p.Gly608=) c.2084G= (p.Gly695=) c.2054G= (p.Gly685=) c.1571G= (p.Gly524=) c.1466G= (p.Gly489=) | |
| 3 | g.122284008G>T | CA354158392 | CASR | c.1823G>T (p.Gly608Val) c.2084G>T (p.Gly695Val) c.2054G>T (p.Gly685Val) c.1571G>T (p.Gly524Val) c.1466G>T (p.Gly489Val) | |
| 3 | g.122284009C>A | CA2569775 | CASR | c.1824C>A (p.Gly608=) c.2085C>A (p.Gly695=) c.2055C>A (p.Gly685=) c.1572C>A (p.Gly524=) c.1467C>A (p.Gly489=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284009C= | CA1397871471 | CASR | c.1824C= (p.Gly608=) c.2085C= (p.Gly695=) c.2055C= (p.Gly685=) c.1572C= (p.Gly524=) c.1467C= (p.Gly489=) | |
| 3 | g.122284009C>G | CA435425024 | CASR | c.1824C>G (p.Gly608=) c.2085C>G (p.Gly695=) c.2055C>G (p.Gly685=) c.1572C>G (p.Gly524=) c.1467C>G (p.Gly489=) | |
| 3 | g.122284009C>T | CA435425025 | CASR | c.1824C>T (p.Gly608=) c.2085C>T (p.Gly695=) c.2055C>T (p.Gly685=) c.1572C>T (p.Gly524=) c.1467C>T (p.Gly489=) | |
| 3 | g.122284010A= | CA1397871476 | CASR | c.1825A= (p.Ile609=) c.2086A= (p.Ile696=) c.2056A= (p.Ile686=) c.1573A= (p.Ile525=) c.1468A= (p.Ile490=) | |
| 3 | g.122284010A>C | CA354158394 | CASR | c.1825A>C (p.Ile609Leu) c.2086A>C (p.Ile696Leu) c.2056A>C (p.Ile686Leu) c.1573A>C (p.Ile525Leu) c.1468A>C (p.Ile490Leu) | |
| 3 | g.122284010A>G | CA2569776 | CASR | c.1825A>G (p.Ile609Val) c.2086A>G (p.Ile696Val) c.2056A>G (p.Ile686Val) c.1573A>G (p.Ile525Val) c.1468A>G (p.Ile490Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284010A>T | CA354158395 | CASR | c.1825A>T (p.Ile609Phe) c.2086A>T (p.Ile696Phe) c.2056A>T (p.Ile686Phe) c.1573A>T (p.Ile525Phe) c.1468A>T (p.Ile490Phe) | |
| 3 | g.122284011T>A | CA354158396 | CASR | c.1826T>A (p.Ile609Asn) c.2087T>A (p.Ile696Asn) c.2057T>A (p.Ile686Asn) c.1574T>A (p.Ile525Asn) c.1469T>A (p.Ile490Asn) | |
| 3 | g.122284011T>C | CA354158398 | CASR | c.1826T>C (p.Ile609Thr) c.2087T>C (p.Ile696Thr) c.2057T>C (p.Ile686Thr) c.1574T>C (p.Ile525Thr) c.1469T>C (p.Ile490Thr) | |
| 3 | g.122284011T>G | CA354158397 | CASR | c.1826T>G (p.Ile609Ser) c.2087T>G (p.Ile696Ser) c.2057T>G (p.Ile686Ser) c.1574T>G (p.Ile525Ser) c.1469T>G (p.Ile490Ser) | |
| 3 | g.122284012C>A | CA435425030 | CASR | c.1827C>A (p.Ile609=) c.2088C>A (p.Ile696=) c.2058C>A (p.Ile686=) c.1575C>A (p.Ile525=) c.1470C>A (p.Ile490=) | |
| 3 | g.122284012C>G | CA354158399 | CASR | c.1827C>G (p.Ile609Met) c.2088C>G (p.Ile696Met) c.2058C>G (p.Ile686Met) c.1575C>G (p.Ile525Met) c.1470C>G (p.Ile490Met) | |
| 3 | g.122284012C>T | CA435425032 | CASR | c.1827C>T (p.Ile609=) c.2088C>T (p.Ile696=) c.2058C>T (p.Ile686=) c.1575C>T (p.Ile525=) c.1470C>T (p.Ile490=) | ClinVar dbSNP |
| 3 | g.122284013A>C | CA354158400 | CASR | c.1828A>C (p.Ser610Arg) c.2089A>C (p.Ser697Arg) c.2059A>C (p.Ser687Arg) c.1576A>C (p.Ser526Arg) c.1471A>C (p.Ser491Arg) | |
| 3 | g.122284013A>G | CA354158401 | CASR | c.1828A>G (p.Ser610Gly) c.2089A>G (p.Ser697Gly) c.2059A>G (p.Ser687Gly) c.1576A>G (p.Ser526Gly) c.1471A>G (p.Ser491Gly) | COSMIC |
| 3 | g.122284013A>T | CA354158402 | CASR | c.1828A>T (p.Ser610Cys) c.2089A>T (p.Ser697Cys) c.2059A>T (p.Ser687Cys) c.1576A>T (p.Ser526Cys) c.1471A>T (p.Ser491Cys) | |
| 3 | g.122284014G>A | CA354158403 | CASR | c.1829G>A (p.Ser610Asn) c.2090G>A (p.Ser697Asn) c.2060G>A (p.Ser687Asn) c.1577G>A (p.Ser526Asn) c.1472G>A (p.Ser491Asn) | |
| 3 | g.122284014G>C | CA354158404 | CASR | c.1829G>C (p.Ser610Thr) c.2090G>C (p.Ser697Thr) c.2060G>C (p.Ser687Thr) c.1577G>C (p.Ser526Thr) c.1472G>C (p.Ser491Thr) | |
| 3 | g.122284014G>T | CA354158405 | CASR | c.1829G>T (p.Ser610Ile) c.2090G>T (p.Ser697Ile) c.2060G>T (p.Ser687Ile) c.1577G>T (p.Ser526Ile) c.1472G>T (p.Ser491Ile) | |
| 3 | g.122284015C>A | CA354158406 | CASR | c.1830C>A (p.Ser610Arg) c.2091C>A (p.Ser697Arg) c.2061C>A (p.Ser687Arg) c.1578C>A (p.Ser526Arg) c.1473C>A (p.Ser491Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284015C= | CA1397871492 | CASR | c.1830C= (p.Ser610=) c.2091C= (p.Ser697=) c.2061C= (p.Ser687=) c.1578C= (p.Ser526=) c.1473C= (p.Ser491=) | |
| 3 | g.122284015C>G | CA354158407 | CASR | c.1830C>G (p.Ser610Arg) c.2091C>G (p.Ser697Arg) c.2061C>G (p.Ser687Arg) c.1578C>G (p.Ser526Arg) c.1473C>G (p.Ser491Arg) | |
| 3 | g.122284015C>T | CA435425036 | CASR | c.1830C>T (p.Ser610=) c.2091C>T (p.Ser697=) c.2061C>T (p.Ser687=) c.1578C>T (p.Ser526=) c.1473C>T (p.Ser491=) | |
| 3 | g.122284016T>A | CA354158408 | CASR | c.1831T>A (p.Phe611Ile) c.2092T>A (p.Phe698Ile) c.2062T>A (p.Phe688Ile) c.1579T>A (p.Phe527Ile) c.1474T>A (p.Phe492Ile) | |
| 3 | g.122284016T>C | CA354158409 | CASR | c.1831T>C (p.Phe611Leu) c.2092T>C (p.Phe698Leu) c.2062T>C (p.Phe688Leu) c.1579T>C (p.Phe527Leu) c.1474T>C (p.Phe492Leu) | |
| 3 | g.122284016T>G | CA354158410 | CASR | c.1831T>G (p.Phe611Val) c.2092T>G (p.Phe698Val) c.2062T>G (p.Phe688Val) c.1579T>G (p.Phe527Val) c.1474T>G (p.Phe492Val) | |
| 3 | g.122284017T>A | CA354158411 | CASR | c.1832T>A (p.Phe611Tyr) c.2093T>A (p.Phe698Tyr) c.2063T>A (p.Phe688Tyr) c.1580T>A (p.Phe527Tyr) c.1475T>A (p.Phe492Tyr) | |
| 3 | g.122284017T>C | CA354158412 | CASR | c.1832T>C (p.Phe611Ser) c.2093T>C (p.Phe698Ser) c.2063T>C (p.Phe688Ser) c.1580T>C (p.Phe527Ser) c.1475T>C (p.Phe492Ser) | ClinVar |
| 3 | g.122284017T>G | CA2569777 | CASR | c.1832T>G (p.Phe611Cys) c.2093T>G (p.Phe698Cys) c.2063T>G (p.Phe688Cys) c.1580T>G (p.Phe527Cys) c.1475T>G (p.Phe492Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284017T= | CA1397871496 | CASR | c.1832T= (p.Phe611=) c.2093T= (p.Phe698=) c.2063T= (p.Phe688=) c.1580T= (p.Phe527=) c.1475T= (p.Phe492=) | |
| 3 | g.122284018C>A | CA354158413 | CASR | c.1833C>A (p.Phe611Leu) c.2094C>A (p.Phe698Leu) c.2064C>A (p.Phe688Leu) c.1581C>A (p.Phe527Leu) c.1476C>A (p.Phe492Leu) | |
| 3 | g.122284018C= | CA1397871501 | CASR | c.1833C= (p.Phe611=) c.2094C= (p.Phe698=) c.2064C= (p.Phe688=) c.1581C= (p.Phe527=) c.1476C= (p.Phe492=) | |
| 3 | g.122284018C>G | CA354158414 | CASR | c.1833C>G (p.Phe611Leu) c.2094C>G (p.Phe698Leu) c.2064C>G (p.Phe688Leu) c.1581C>G (p.Phe527Leu) c.1476C>G (p.Phe492Leu) | ClinVar dbSNP |
| 3 | g.122284018C>T | CA2569778 | CASR | c.1833C>T (p.Phe611=) c.2094C>T (p.Phe698=) c.2064C>T (p.Phe688=) c.1581C>T (p.Phe527=) c.1476C>T (p.Phe492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284018_122284019delinsTA | CA2740094572 | CASR | c.1833_1834delinsTA (p.Val612Met) c.2094_2095delinsTA (p.Val699Met) c.2064_2065delinsTA (p.Val689Met) c.1581_1582delinsTA (p.Val528Met) c.1476_1477delinsTA (p.Val493Met) | ClinVar |
| 3 | g.122284019G>A | CA354158415 | CASR | c.1834G>A (p.Val612Met) c.2095G>A (p.Val699Met) c.2065G>A (p.Val689Met) c.1582G>A (p.Val528Met) c.1477G>A (p.Val493Met) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284019G>C | CA354158416 | CASR | c.1834G>C (p.Val612Leu) c.2095G>C (p.Val699Leu) c.2065G>C (p.Val689Leu) c.1582G>C (p.Val528Leu) c.1477G>C (p.Val493Leu) | |
| 3 | g.122284019G>T | CA354158417 | CASR | c.1834G>T (p.Val612Leu) c.2095G>T (p.Val699Leu) c.2065G>T (p.Val689Leu) c.1582G>T (p.Val528Leu) c.1477G>T (p.Val493Leu) | |
| 3 | g.122284020T>A | CA354158418 | CASR | c.1835T>A (p.Val612Glu) c.2096T>A (p.Val699Glu) c.2066T>A (p.Val689Glu) c.1583T>A (p.Val528Glu) c.1478T>A (p.Val493Glu) | |
| 3 | g.122284020T>C | CA354158419 | CASR | c.1835T>C (p.Val612Ala) c.2096T>C (p.Val699Ala) c.2066T>C (p.Val689Ala) c.1583T>C (p.Val528Ala) c.1478T>C (p.Val493Ala) | |
| 3 | g.122284020T>G | CA354158420 | CASR | c.1835T>G (p.Val612Gly) c.2096T>G (p.Val699Gly) c.2066T>G (p.Val689Gly) c.1583T>G (p.Val528Gly) c.1478T>G (p.Val493Gly) | |
| 3 | g.122284021G>A | CA435425048 | CASR | c.1836G>A (p.Val612=) c.2097G>A (p.Val699=) c.2067G>A (p.Val689=) c.1584G>A (p.Val528=) c.1479G>A (p.Val493=) | |
| 3 | g.122284021G>C | CA435425049 | CASR | c.1836G>C (p.Val612=) c.2097G>C (p.Val699=) c.2067G>C (p.Val689=) c.1584G>C (p.Val528=) c.1479G>C (p.Val493=) | |
| 3 | g.122284021G>T | CA435425050 | CASR | c.1836G>T (p.Val612=) c.2097G>T (p.Val699=) c.2067G>T (p.Val689=) c.1584G>T (p.Val528=) c.1479G>T (p.Val493=) | |
| 3 | g.122284022C>A | CA354158421 | CASR | c.1837C>A (p.Leu613Ile) c.2098C>A (p.Leu700Ile) c.2068C>A (p.Leu690Ile) c.1585C>A (p.Leu529Ile) c.1480C>A (p.Leu494Ile) | |
| 3 | g.122284022C= | CA1397871507 | CASR | c.1837C= (p.Leu613=) c.2098C= (p.Leu700=) c.2068C= (p.Leu690=) c.1585C= (p.Leu529=) c.1480C= (p.Leu494=) | |
| 3 | g.122284022C>G | CA354158422 | CASR | c.1837C>G (p.Leu613Val) c.2098C>G (p.Leu700Val) c.2068C>G (p.Leu690Val) c.1585C>G (p.Leu529Val) c.1480C>G (p.Leu494Val) | |
| 3 | g.122284022C>T | CA354158423 | CASR | c.1837C>T (p.Leu613Phe) c.2098C>T (p.Leu700Phe) c.2068C>T (p.Leu690Phe) c.1585C>T (p.Leu529Phe) c.1480C>T (p.Leu494Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284023T>A | CA354158424 | CASR | c.1838T>A (p.Leu613His) c.2099T>A (p.Leu700His) c.2069T>A (p.Leu690His) c.1586T>A (p.Leu529His) c.1481T>A (p.Leu494His) | |
| 3 | g.122284023T>C | CA354158425 | CASR | c.1838T>C (p.Leu613Pro) c.2099T>C (p.Leu700Pro) c.2069T>C (p.Leu690Pro) c.1586T>C (p.Leu529Pro) c.1481T>C (p.Leu494Pro) | |
| 3 | g.122284023T>G | CA354158426 | CASR | c.1838T>G (p.Leu613Arg) c.2099T>G (p.Leu700Arg) c.2069T>G (p.Leu690Arg) c.1586T>G (p.Leu529Arg) c.1481T>G (p.Leu494Arg) | |
| 3 | g.122284024C>A | CA435425053 | CASR | c.1839C>A (p.Leu613=) c.2100C>A (p.Leu700=) c.2070C>A (p.Leu690=) c.1587C>A (p.Leu529=) c.1482C>A (p.Leu494=) | |
| 3 | g.122284024C= | CA1397871510 | CASR | c.1839C= (p.Leu613=) c.2100C= (p.Leu700=) c.2070C= (p.Leu690=) c.1587C= (p.Leu529=) c.1482C= (p.Leu494=) | |
| 3 | g.122284024C>G | CA82748740 | CASR | c.1839C>G (p.Leu613=) c.2100C>G (p.Leu700=) c.2070C>G (p.Leu690=) c.1587C>G (p.Leu529=) c.1482C>G (p.Leu494=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284024C>T | CA435425057 | CASR | c.1839C>T (p.Leu613=) c.2100C>T (p.Leu700=) c.2070C>T (p.Leu690=) c.1587C>T (p.Leu529=) c.1482C>T (p.Leu494=) | |
| 3 | g.122284025T>A | CA354158429 | CASR | c.1840T>A (p.Cys614Ser) c.2101T>A (p.Cys701Ser) c.2071T>A (p.Cys691Ser) c.1588T>A (p.Cys530Ser) c.1483T>A (p.Cys495Ser) | |
| 3 | g.122284025T>C | CA354158427 | CASR | c.1840T>C (p.Cys614Arg) c.2101T>C (p.Cys701Arg) c.2071T>C (p.Cys691Arg) c.1588T>C (p.Cys530Arg) c.1483T>C (p.Cys495Arg) | |
| 3 | g.122284025T>G | CA354158428 | CASR | c.1840T>G (p.Cys614Gly) c.2101T>G (p.Cys701Gly) c.2071T>G (p.Cys691Gly) c.1588T>G (p.Cys530Gly) c.1483T>G (p.Cys495Gly) | ClinVar |
| 3 | g.122284026G>A | CA354158430 | CASR | c.1841G>A (p.Cys614Tyr) c.2102G>A (p.Cys701Tyr) c.2072G>A (p.Cys691Tyr) c.1589G>A (p.Cys530Tyr) c.1484G>A (p.Cys495Tyr) | |
| 3 | g.122284026G>C | CA354158431 | CASR | c.1841G>C (p.Cys614Ser) c.2102G>C (p.Cys701Ser) c.2072G>C (p.Cys691Ser) c.1589G>C (p.Cys530Ser) c.1484G>C (p.Cys495Ser) | ClinVar |
| 3 | g.122284026G>T | CA354158432 | CASR | c.1841G>T (p.Cys614Phe) c.2102G>T (p.Cys701Phe) c.2072G>T (p.Cys691Phe) c.1589G>T (p.Cys530Phe) c.1484G>T (p.Cys495Phe) | |
| 3 | g.122284027C>A | CA354158433 | CASR | c.1842C>A (p.Cys614Ter) c.2103C>A (p.Cys701Ter) c.2073C>A (p.Cys691Ter) c.1590C>A (p.Cys530Ter) c.1485C>A (p.Cys495Ter) | |
| 3 | g.122284027C>G | CA354158434 | CASR | c.1842C>G (p.Cys614Trp) c.2103C>G (p.Cys701Trp) c.2073C>G (p.Cys691Trp) c.1590C>G (p.Cys530Trp) c.1485C>G (p.Cys495Trp) | |
| 3 | g.122284027C>T | CA435425058 | CASR | c.1842C>T (p.Cys614=) c.2103C>T (p.Cys701=) c.2073C>T (p.Cys691=) c.1590C>T (p.Cys530=) c.1485C>T (p.Cys495=) | |
| 3 | g.122284028A>C | CA354158435 | CASR | c.1843A>C (p.Ile615Leu) c.2104A>C (p.Ile702Leu) c.2074A>C (p.Ile692Leu) c.1591A>C (p.Ile531Leu) c.1486A>C (p.Ile496Leu) | |
| 3 | g.122284028A>G | CA354158436 | CASR | c.1843A>G (p.Ile615Val) c.2104A>G (p.Ile702Val) c.2074A>G (p.Ile692Val) c.1591A>G (p.Ile531Val) c.1486A>G (p.Ile496Val) | ClinVar gnomAD v4 |
| 3 | g.122284028A>T | CA354158437 | CASR | c.1843A>T (p.Ile615Phe) c.2104A>T (p.Ile702Phe) c.2074A>T (p.Ile692Phe) c.1591A>T (p.Ile531Phe) c.1486A>T (p.Ile496Phe) | |
| 3 | g.122284029T>A | CA354158438 | CASR | c.1844T>A (p.Ile615Asn) c.2105T>A (p.Ile702Asn) c.2075T>A (p.Ile692Asn) c.1592T>A (p.Ile531Asn) c.1487T>A (p.Ile496Asn) | dbSNP |
| 3 | g.122284029T>C | CA354158439 | CASR | c.1844T>C (p.Ile615Thr) c.2105T>C (p.Ile702Thr) c.2075T>C (p.Ile692Thr) c.1592T>C (p.Ile531Thr) c.1487T>C (p.Ile496Thr) | |
| 3 | g.122284029T>G | CA354158440 | CASR | c.1844T>G (p.Ile615Ser) c.2105T>G (p.Ile702Ser) c.2075T>G (p.Ile692Ser) c.1592T>G (p.Ile531Ser) c.1487T>G (p.Ile496Ser) | |
| 3 | g.122284029T= | CA1397871513 | CASR | c.1844T= (p.Ile615=) c.2105T= (p.Ile702=) c.2075T= (p.Ile692=) c.1592T= (p.Ile531=) c.1487T= (p.Ile496=) | |
| 3 | g.122284029_122284030insG | CA82748745 | CASR | c.1844_1845insG (p.Ile615MetfsTer16) c.2105_2106insG (p.Ile702MetfsTer16) c.2075_2076insG (p.Ile692MetfsTer16) c.1592_1593insG (p.Ile531MetfsTer16) c.1487_1488insG (p.Ile496MetfsTer16) | dbSNP |
| 3 | g.122284030C>A | CA435425061 | CASR | c.1845C>A (p.Ile615=) c.2106C>A (p.Ile702=) c.2076C>A (p.Ile692=) c.1593C>A (p.Ile531=) c.1488C>A (p.Ile496=) | |
| 3 | g.122284030C= | CA1397871517 | CASR | c.1845C= (p.Ile615=) c.2106C= (p.Ile702=) c.2076C= (p.Ile692=) c.1593C= (p.Ile531=) c.1488C= (p.Ile496=) | |
| 3 | g.122284030C>G | CA354158441 | CASR | c.1845C>G (p.Ile615Met) c.2106C>G (p.Ile702Met) c.2076C>G (p.Ile692Met) c.1593C>G (p.Ile531Met) c.1488C>G (p.Ile496Met) | |
| 3 | g.122284030C>T | CA435425062 | CASR | c.1845C>T (p.Ile615=) c.2106C>T (p.Ile702=) c.2076C>T (p.Ile692=) c.1593C>T (p.Ile531=) c.1488C>T (p.Ile496=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284031T>A | CA354158442 | CASR | c.1846T>A (p.Ser616Thr) c.2107T>A (p.Ser703Thr) c.2077T>A (p.Ser693Thr) c.1594T>A (p.Ser532Thr) c.1489T>A (p.Ser497Thr) | |
| 3 | g.122284031T>C | CA354158443 | CASR | c.1846T>C (p.Ser616Pro) c.2107T>C (p.Ser703Pro) c.2077T>C (p.Ser693Pro) c.1594T>C (p.Ser532Pro) c.1489T>C (p.Ser497Pro) | |
| 3 | g.122284031T>G | CA354158444 | CASR | c.1846T>G (p.Ser616Ala) c.2107T>G (p.Ser703Ala) c.2077T>G (p.Ser693Ala) c.1594T>G (p.Ser532Ala) c.1489T>G (p.Ser497Ala) | |
| 3 | g.122284032C>A | CA354158445 | CASR | c.1847C>A (p.Ser616Ter) c.2108C>A (p.Ser703Ter) c.2078C>A (p.Ser693Ter) c.1595C>A (p.Ser532Ter) c.1490C>A (p.Ser497Ter) | |
| 3 | g.122284032C>G | CA354158446 | CASR | c.1847C>G (p.Ser616Ter) c.2108C>G (p.Ser703Ter) c.2078C>G (p.Ser693Ter) c.1595C>G (p.Ser532Ter) c.1490C>G (p.Ser497Ter) | |
| 3 | g.122284032C>T | CA354158447 | CASR | c.1847C>T (p.Ser616Leu) c.2108C>T (p.Ser703Leu) c.2078C>T (p.Ser693Leu) c.1595C>T (p.Ser532Leu) c.1490C>T (p.Ser497Leu) | |
| 3 | g.122284033A>C | CA435425069 | CASR | c.1848A>C (p.Ser616=) c.2109A>C (p.Ser703=) c.2079A>C (p.Ser693=) c.1596A>C (p.Ser532=) c.1491A>C (p.Ser497=) | ClinVar gnomAD v4 |
| 3 | g.122284033A>G | CA435425070 | CASR | c.1848A>G (p.Ser616=) c.2109A>G (p.Ser703=) c.2079A>G (p.Ser693=) c.1596A>G (p.Ser532=) c.1491A>G (p.Ser497=) | ClinVar |
| 3 | g.122284033A>T | CA435425071 | CASR | c.1848A>T (p.Ser616=) c.2109A>T (p.Ser703=) c.2079A>T (p.Ser693=) c.1596A>T (p.Ser532=) c.1491A>T (p.Ser497=) | |
| 3 | g.122284034T>A | CA354158450 | CASR | c.1849T>A (p.Cys617Ser) c.2110T>A (p.Cys704Ser) c.2080T>A (p.Cys694Ser) c.1597T>A (p.Cys533Ser) c.1492T>A (p.Cys498Ser) | |
| 3 | g.122284034T>C | CA354158448 | CASR | c.1849T>C (p.Cys617Arg) c.2110T>C (p.Cys704Arg) c.2080T>C (p.Cys694Arg) c.1597T>C (p.Cys533Arg) c.1492T>C (p.Cys498Arg) | ClinVar |
| 3 | g.122284034T>G | CA354158449 | CASR | c.1849T>G (p.Cys617Gly) c.2110T>G (p.Cys704Gly) c.2080T>G (p.Cys694Gly) c.1597T>G (p.Cys533Gly) c.1492T>G (p.Cys498Gly) | gnomAD v4 |
| 3 | g.122284035G>A | CA354158451 | CASR | c.1850G>A (p.Cys617Tyr) c.2111G>A (p.Cys704Tyr) c.2081G>A (p.Cys694Tyr) c.1598G>A (p.Cys533Tyr) c.1493G>A (p.Cys498Tyr) | |
| 3 | g.122284035G>C | CA354158452 | CASR | c.1850G>C (p.Cys617Ser) c.2111G>C (p.Cys704Ser) c.2081G>C (p.Cys694Ser) c.1598G>C (p.Cys533Ser) c.1493G>C (p.Cys498Ser) | |
| 3 | g.122284035G= | CA1397871523 | CASR | c.1850G= (p.Cys617=) c.2111G= (p.Cys704=) c.2081G= (p.Cys694=) c.1598G= (p.Cys533=) c.1493G= (p.Cys498=) | |
| 3 | g.122284035G>T | CA354158453 | CASR | c.1850G>T (p.Cys617Phe) c.2111G>T (p.Cys704Phe) c.2081G>T (p.Cys694Phe) c.1598G>T (p.Cys533Phe) c.1493G>T (p.Cys498Phe) | |
| 3 | g.122284036C>A | CA354158454 | CASR | c.1851C>A (p.Cys617Ter) c.2112C>A (p.Cys704Ter) c.2082C>A (p.Cys694Ter) c.1599C>A (p.Cys533Ter) c.1494C>A (p.Cys498Ter) | |
| 3 | g.122284036C= | CA1397871530 | CASR | c.1851C= (p.Cys617=) c.2112C= (p.Cys704=) c.2082C= (p.Cys694=) c.1599C= (p.Cys533=) c.1494C= (p.Cys498=) | |
| 3 | g.122284036C>G | CA354158455 | CASR | c.1851C>G (p.Cys617Trp) c.2112C>G (p.Cys704Trp) c.2082C>G (p.Cys694Trp) c.1599C>G (p.Cys533Trp) c.1494C>G (p.Cys498Trp) | |
| 3 | g.122284036C>T | CA435425074 | CASR | c.1851C>T (p.Cys617=) c.2112C>T (p.Cys704=) c.2082C>T (p.Cys694=) c.1599C>T (p.Cys533=) c.1494C>T (p.Cys498=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284037_122284060dup | CA16611122 | CASR | c.1852_1875dup (p.Val625_Leu626insIleLeuValLysThrAsnArgVal) c.2113_2136dup (p.Val712_Leu713insIleLeuValLysThrAsnArgVal) c.2083_2106dup (p.Val702_Leu703insIleLeuValLysThrAsnArgVal) c.1600_1623dup (p.Val541_Leu542insIleLeuValLysThrAsnArgVal) c.1495_1518dup (p.Val506_Leu507insIleLeuValLysThrAsnArgVal) | ClinVar dbSNP |
| 3 | g.122284037A= | CA1397871534 | CASR | c.1852A= (p.Ile618=) c.2113A= (p.Ile705=) c.2083A= (p.Ile695=) c.1600A= (p.Ile534=) c.1495A= (p.Ile499=) | |
| 3 | g.122284037A>C | CA354158456 | CASR | c.1852A>C (p.Ile618Leu) c.2113A>C (p.Ile705Leu) c.2083A>C (p.Ile695Leu) c.1600A>C (p.Ile534Leu) c.1495A>C (p.Ile499Leu) | ClinVar |
| 3 | g.122284037A>G | CA2569779 | CASR | c.1852A>G (p.Ile618Val) c.2113A>G (p.Ile705Val) c.2083A>G (p.Ile695Val) c.1600A>G (p.Ile534Val) c.1495A>G (p.Ile499Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284037A>T | CA354158457 | CASR | c.1852A>T (p.Ile618Phe) c.2113A>T (p.Ile705Phe) c.2083A>T (p.Ile695Phe) c.1600A>T (p.Ile534Phe) c.1495A>T (p.Ile499Phe) | |
| 3 | g.122284038T>A | CA354158460 | CASR | c.1853T>A (p.Ile618Asn) c.2114T>A (p.Ile705Asn) c.2084T>A (p.Ile695Asn) c.1601T>A (p.Ile534Asn) c.1496T>A (p.Ile499Asn) | |
| 3 | g.122284038T>C | CA354158462 | CASR | c.1853T>C (p.Ile618Thr) c.2114T>C (p.Ile705Thr) c.2084T>C (p.Ile695Thr) c.1601T>C (p.Ile534Thr) c.1496T>C (p.Ile499Thr) | ClinVar dbSNP |
| 3 | g.122284038T>G | CA354158465 | CASR | c.1853T>G (p.Ile618Ser) c.2114T>G (p.Ile705Ser) c.2084T>G (p.Ile695Ser) c.1601T>G (p.Ile534Ser) c.1496T>G (p.Ile499Ser) | |
| 3 | g.122284039C>A | CA435425075 | CASR | c.1854C>A (p.Ile618=) c.2115C>A (p.Ile705=) c.2085C>A (p.Ile695=) c.1602C>A (p.Ile534=) c.1497C>A (p.Ile499=) | gnomAD v4 |
| 3 | g.122284039C= | CA1397871536 | CASR | c.1854C= (p.Ile618=) c.2115C= (p.Ile705=) c.2085C= (p.Ile695=) c.1602C= (p.Ile534=) c.1497C= (p.Ile499=) | |
| 3 | g.122284039C>G | CA354158467 | CASR | c.1854C>G (p.Ile618Met) c.2115C>G (p.Ile705Met) c.2085C>G (p.Ile695Met) c.1602C>G (p.Ile534Met) c.1497C>G (p.Ile499Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284039C>T | CA435425076 | CASR | c.1854C>T (p.Ile618=) c.2115C>T (p.Ile705=) c.2085C>T (p.Ile695=) c.1602C>T (p.Ile534=) c.1497C>T (p.Ile499=) | |
| 3 | g.122284040C>A | CA354158469 | CASR | c.1855C>A (p.Leu619Met) c.2116C>A (p.Leu706Met) c.2086C>A (p.Leu696Met) c.1603C>A (p.Leu535Met) c.1498C>A (p.Leu500Met) | ClinVar |
| 3 | g.122284040C>G | CA354158471 | CASR | c.1855C>G (p.Leu619Val) c.2116C>G (p.Leu706Val) c.2086C>G (p.Leu696Val) c.1603C>G (p.Leu535Val) c.1498C>G (p.Leu500Val) | |
| 3 | g.122284040C>T | CA435425083 | CASR | c.1855C>T (p.Leu619=) c.2116C>T (p.Leu706=) c.2086C>T (p.Leu696=) c.1603C>T (p.Leu535=) c.1498C>T (p.Leu500=) | COSMIC |
| 3 | g.122284041T>A | CA354158473 | CASR | c.1856T>A (p.Leu619Gln) c.2117T>A (p.Leu706Gln) c.2087T>A (p.Leu696Gln) c.1604T>A (p.Leu535Gln) c.1499T>A (p.Leu500Gln) | ClinVar dbSNP |
| 3 | g.122284041T>C | CA354158475 | CASR | c.1856T>C (p.Leu619Pro) c.2117T>C (p.Leu706Pro) c.2087T>C (p.Leu696Pro) c.1604T>C (p.Leu535Pro) c.1499T>C (p.Leu500Pro) | ClinVar dbSNP |
| 3 | g.122284041T>G | CA354158477 | CASR | c.1856T>G (p.Leu619Arg) c.2117T>G (p.Leu706Arg) c.2087T>G (p.Leu696Arg) c.1604T>G (p.Leu535Arg) c.1499T>G (p.Leu500Arg) | |
| 3 | g.122284042G>A | CA435425085 | CASR | c.1857G>A (p.Leu619=) c.2118G>A (p.Leu706=) c.2088G>A (p.Leu696=) c.1605G>A (p.Leu535=) c.1500G>A (p.Leu500=) | |
| 3 | g.122284042G>C | CA435425086 | CASR | c.1857G>C (p.Leu619=) c.2118G>C (p.Leu706=) c.2088G>C (p.Leu696=) c.1605G>C (p.Leu535=) c.1500G>C (p.Leu500=) | ClinVar |
| 3 | g.122284042G>T | CA435425087 | CASR | c.1857G>T (p.Leu619=) c.2118G>T (p.Leu706=) c.2088G>T (p.Leu696=) c.1605G>T (p.Leu535=) c.1500G>T (p.Leu500=) | |
| 3 | g.122284043G>A | CA354158480 | CASR | c.1858G>A (p.Val620Met) c.2119G>A (p.Val707Met) c.2089G>A (p.Val697Met) c.1606G>A (p.Val536Met) c.1501G>A (p.Val501Met) | ClinVar |
| 3 | g.122284043G>C | CA354158481 | CASR | c.1858G>C (p.Val620Leu) c.2119G>C (p.Val707Leu) c.2089G>C (p.Val697Leu) c.1606G>C (p.Val536Leu) c.1501G>C (p.Val501Leu) | |
| 3 | g.122284043G>T | CA354158483 | CASR | c.1858G>T (p.Val620Leu) c.2119G>T (p.Val707Leu) c.2089G>T (p.Val697Leu) c.1606G>T (p.Val536Leu) c.1501G>T (p.Val501Leu) | |
| 3 | g.122284044T>A | CA354158487 | CASR | c.1859T>A (p.Val620Glu) c.2120T>A (p.Val707Glu) c.2090T>A (p.Val697Glu) c.1607T>A (p.Val536Glu) c.1502T>A (p.Val501Glu) | |
| 3 | g.122284044T>C | CA354158489 | CASR | c.1859T>C (p.Val620Ala) c.2120T>C (p.Val707Ala) c.2090T>C (p.Val697Ala) c.1607T>C (p.Val536Ala) c.1502T>C (p.Val501Ala) | |
| 3 | g.122284044T>G | CA354158485 | CASR | c.1859T>G (p.Val620Gly) c.2120T>G (p.Val707Gly) c.2090T>G (p.Val697Gly) c.1607T>G (p.Val536Gly) c.1502T>G (p.Val501Gly) | |
| 3 | g.122284045G>A | CA435425092 | CASR | c.1860G>A (p.Val620=) c.2121G>A (p.Val707=) c.2091G>A (p.Val697=) c.1608G>A (p.Val536=) c.1503G>A (p.Val501=) | |
| 3 | g.122284045G>C | CA435425093 | CASR | c.1860G>C (p.Val620=) c.2121G>C (p.Val707=) c.2091G>C (p.Val697=) c.1608G>C (p.Val536=) c.1503G>C (p.Val501=) | |
| 3 | g.122284045G>T | CA435425095 | CASR | c.1860G>T (p.Val620=) c.2121G>T (p.Val707=) c.2091G>T (p.Val697=) c.1608G>T (p.Val536=) c.1503G>T (p.Val501=) | ClinVar |
| 3 | g.122284046A>C | CA354158491 | CASR | c.1861A>C (p.Lys621Gln) c.2122A>C (p.Lys708Gln) c.2092A>C (p.Lys698Gln) c.1609A>C (p.Lys537Gln) c.1504A>C (p.Lys502Gln) | |
| 3 | g.122284046A>G | CA354158496 | CASR | c.1861A>G (p.Lys621Glu) c.2122A>G (p.Lys708Glu) c.2092A>G (p.Lys698Glu) c.1609A>G (p.Lys537Glu) c.1504A>G (p.Lys502Glu) | |
| 3 | g.122284046A>T | CA354158493 | CASR | c.1861A>T (p.Lys621Ter) c.2122A>T (p.Lys708Ter) c.2092A>T (p.Lys698Ter) c.1609A>T (p.Lys537Ter) c.1504A>T (p.Lys502Ter) | |
| 3 | g.122284047A>C | CA354158499 | CASR | c.1862A>C (p.Lys621Thr) c.2123A>C (p.Lys708Thr) c.2093A>C (p.Lys698Thr) c.1610A>C (p.Lys537Thr) c.1505A>C (p.Lys502Thr) | |
| 3 | g.122284047A>G | CA354158504 | CASR | c.1862A>G (p.Lys621Arg) c.2123A>G (p.Lys708Arg) c.2093A>G (p.Lys698Arg) c.1610A>G (p.Lys537Arg) c.1505A>G (p.Lys502Arg) | |
| 3 | g.122284047A>T | CA354158502 | CASR | c.1862A>T (p.Lys621Ile) c.2123A>T (p.Lys708Ile) c.2093A>T (p.Lys698Ile) c.1610A>T (p.Lys537Ile) c.1505A>T (p.Lys502Ile) | |
| 3 | g.122284048A>C | CA354158507 | CASR | c.1863A>C (p.Lys621Asn) c.2124A>C (p.Lys708Asn) c.2094A>C (p.Lys698Asn) c.1611A>C (p.Lys537Asn) c.1506A>C (p.Lys502Asn) | |
| 3 | g.122284048A>G | CA435425100 | CASR | c.1863A>G (p.Lys621=) c.2124A>G (p.Lys708=) c.2094A>G (p.Lys698=) c.1611A>G (p.Lys537=) c.1506A>G (p.Lys502=) | gnomAD v4 |
| 3 | g.122284048A>T | CA354158509 | CASR | c.1863A>T (p.Lys621Asn) c.2124A>T (p.Lys708Asn) c.2094A>T (p.Lys698Asn) c.1611A>T (p.Lys537Asn) c.1506A>T (p.Lys502Asn) | |
| 3 | g.122284049A>C | CA354158512 | CASR | c.1864A>C (p.Thr622Pro) c.2125A>C (p.Thr709Pro) c.2095A>C (p.Thr699Pro) c.1612A>C (p.Thr538Pro) c.1507A>C (p.Thr503Pro) | ClinVar |
| 3 | g.122284049A>G | CA354158515 | CASR | c.1864A>G (p.Thr622Ala) c.2125A>G (p.Thr709Ala) c.2095A>G (p.Thr699Ala) c.1612A>G (p.Thr538Ala) c.1507A>G (p.Thr503Ala) | |
| 3 | g.122284049A>T | CA354158514 | CASR | c.1864A>T (p.Thr622Ser) c.2125A>T (p.Thr709Ser) c.2095A>T (p.Thr699Ser) c.1612A>T (p.Thr538Ser) c.1507A>T (p.Thr503Ser) | |
| 3 | g.122284049_122284050delinsAC | CA1397871538 | CASR | c.1864_1865delinsAC (p.Thr622=) c.2125_2126delinsAC (p.Thr709=) c.2095_2096delinsAC (p.Thr699=) c.1612_1613delinsAC (p.Thr538=) c.1507_1508delinsAC (p.Thr503=) | |
| 3 | g.122284050C>A | CA354158521 | CASR | c.1865C>A (p.Thr622Asn) c.2126C>A (p.Thr709Asn) c.2096C>A (p.Thr699Asn) c.1613C>A (p.Thr538Asn) c.1508C>A (p.Thr503Asn) | |
| 3 | g.122284050C>G | CA354158525 | CASR | c.1865C>G (p.Thr622Ser) c.2126C>G (p.Thr709Ser) c.2096C>G (p.Thr699Ser) c.1613C>G (p.Thr538Ser) c.1508C>G (p.Thr503Ser) | ClinVar |
| 3 | g.122284050C>T | CA354158523 | CASR | c.1865C>T (p.Thr622Ile) c.2126C>T (p.Thr709Ile) c.2096C>T (p.Thr699Ile) c.1613C>T (p.Thr538Ile) c.1508C>T (p.Thr503Ile) | ClinVar dbSNP |
| 3 | g.122284051del | CA915941531 | CASR | c.1866del (p.Asn623ThrfsTer?) c.2127del (p.Asn710ThrfsTer?) c.2097del (p.Asn700ThrfsTer?) c.1614del (p.Asn539ThrfsTer?) c.1509del (p.Asn504ThrfsTer?) | ClinVar dbSNP |
| 3 | g.122284051C>A | CA435425106 | CASR | c.1866C>A (p.Thr622=) c.2127C>A (p.Thr709=) c.2097C>A (p.Thr699=) c.1614C>A (p.Thr538=) c.1509C>A (p.Thr503=) | |
| 3 | g.122284051C= | CA1397871545 | CASR | c.1866C= (p.Thr622=) c.2127C= (p.Thr709=) c.2097C= (p.Thr699=) c.1614C= (p.Thr538=) c.1509C= (p.Thr503=) | |
| 3 | g.122284051C>G | CA435425108 | CASR | c.1866C>G (p.Thr622=) c.2127C>G (p.Thr709=) c.2097C>G (p.Thr699=) c.1614C>G (p.Thr538=) c.1509C>G (p.Thr503=) | |
| 3 | g.122284051C>T | CA435425109 | CASR | c.1866C>T (p.Thr622=) c.2127C>T (p.Thr709=) c.2097C>T (p.Thr699=) c.1614C>T (p.Thr538=) c.1509C>T (p.Thr503=) | ClinVar dbSNP |
| 3 | g.122284052A>C | CA354158527 | CASR | c.1867A>C (p.Asn623His) c.2128A>C (p.Asn710His) c.2098A>C (p.Asn700His) c.1615A>C (p.Asn539His) c.1510A>C (p.Asn504His) | |
| 3 | g.122284052A>G | CA354158530 | CASR | c.1867A>G (p.Asn623Asp) c.2128A>G (p.Asn710Asp) c.2098A>G (p.Asn700Asp) c.1615A>G (p.Asn539Asp) c.1510A>G (p.Asn504Asp) | |
| 3 | g.122284052A>T | CA354158531 | CASR | c.1867A>T (p.Asn623Tyr) c.2128A>T (p.Asn710Tyr) c.2098A>T (p.Asn700Tyr) c.1615A>T (p.Asn539Tyr) c.1510A>T (p.Asn504Tyr) | |
| 3 | g.122284053A= | CA1397871554 | CASR | c.1868A= (p.Asn623=) c.2129A= (p.Asn710=) c.2099A= (p.Asn700=) c.1616A= (p.Asn539=) c.1511A= (p.Asn504=) | |
| 3 | g.122284053A>C | CA354158534 | CASR | c.1868A>C (p.Asn623Thr) c.2129A>C (p.Asn710Thr) c.2099A>C (p.Asn700Thr) c.1616A>C (p.Asn539Thr) c.1511A>C (p.Asn504Thr) | |
| 3 | g.122284053A>G | CA354158536 | CASR | c.1868A>G (p.Asn623Ser) c.2129A>G (p.Asn710Ser) c.2099A>G (p.Asn700Ser) c.1616A>G (p.Asn539Ser) c.1511A>G (p.Asn504Ser) | ClinVar dbSNP COSMIC |
| 3 | g.122284053A>T | CA354158538 | CASR | c.1868A>T (p.Asn623Ile) c.2129A>T (p.Asn710Ile) c.2099A>T (p.Asn700Ile) c.1616A>T (p.Asn539Ile) c.1511A>T (p.Asn504Ile) | |
| 3 | g.122284053_122284054delinsAC | CA1397871553 | CASR | c.1868_1869delinsAC (p.Asn623=) c.2129_2130delinsAC (p.Asn710=) c.2099_2100delinsAC (p.Asn700=) c.1616_1617delinsAC (p.Asn539=) c.1511_1512delinsAC (p.Asn504=) | |
| 3 | g.122284054C>A | CA354158541 | CASR | c.1869C>A (p.Asn623Lys) c.2130C>A (p.Asn710Lys) c.2100C>A (p.Asn700Lys) c.1617C>A (p.Asn539Lys) c.1512C>A (p.Asn504Lys) | COSMIC |
| 3 | g.122284054C>G | CA354158542 | CASR | c.1869C>G (p.Asn623Lys) c.2130C>G (p.Asn710Lys) c.2100C>G (p.Asn700Lys) c.1617C>G (p.Asn539Lys) c.1512C>G (p.Asn504Lys) | |
| 3 | g.122284054C>T | CA435425114 | CASR | c.1869C>T (p.Asn623=) c.2130C>T (p.Asn710=) c.2100C>T (p.Asn700=) c.1617C>T (p.Asn539=) c.1512C>T (p.Asn504=) | ClinVar COSMIC |
| 3 | g.122284055del | CA658657329 | CASR | c.1870del (p.Arg624ValfsTer?) c.2131del (p.Arg711ValfsTer?) c.2101del (p.Arg701ValfsTer?) c.1618del (p.Arg540ValfsTer?) c.1513del (p.Arg505ValfsTer?) | ClinVar dbSNP |
| 3 | g.122284055C>A | CA354158545 | CASR | c.1870C>A (p.Arg624Ser) c.2131C>A (p.Arg711Ser) c.2101C>A (p.Arg701Ser) c.1618C>A (p.Arg540Ser) c.1513C>A (p.Arg505Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284055C= | CA1397871566 | CASR | c.1870C= (p.Arg624=) c.2131C= (p.Arg711=) c.2101C= (p.Arg701=) c.1618C= (p.Arg540=) c.1513C= (p.Arg505=) | |
| 3 | g.122284055C>G | CA354158547 | CASR | c.1870C>G (p.Arg624Gly) c.2131C>G (p.Arg711Gly) c.2101C>G (p.Arg701Gly) c.1618C>G (p.Arg540Gly) c.1513C>G (p.Arg505Gly) | |
| 3 | g.122284055C>T | CA2569780 | CASR | c.1870C>T (p.Arg624Cys) c.2131C>T (p.Arg711Cys) c.2101C>T (p.Arg701Cys) c.1618C>T (p.Arg540Cys) c.1513C>T (p.Arg505Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284056G>A | CA354158557 | CASR | c.1871G>A (p.Arg624His) c.2132G>A (p.Arg711His) c.2102G>A (p.Arg701His) c.1619G>A (p.Arg540His) c.1514G>A (p.Arg505His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284056G>C | CA354158555 | CASR | c.1871G>C (p.Arg624Pro) c.2132G>C (p.Arg711Pro) c.2102G>C (p.Arg701Pro) c.1619G>C (p.Arg540Pro) c.1514G>C (p.Arg505Pro) | |
| 3 | g.122284056G= | CA1397871572 | CASR | c.1871G= (p.Arg624=) c.2132G= (p.Arg711=) c.2102G= (p.Arg701=) c.1619G= (p.Arg540=) c.1514G= (p.Arg505=) | |
| 3 | g.122284056G>T | CA354158553 | CASR | c.1871G>T (p.Arg624Leu) c.2132G>T (p.Arg711Leu) c.2102G>T (p.Arg701Leu) c.1619G>T (p.Arg540Leu) c.1514G>T (p.Arg505Leu) | COSMIC |
| 3 | g.122284057T>A | CA435425119 | CASR | c.1872T>A (p.Arg624=) c.2133T>A (p.Arg711=) c.2103T>A (p.Arg701=) c.1620T>A (p.Arg540=) c.1515T>A (p.Arg505=) | |
| 3 | g.122284057T>C | CA435425120 | CASR | c.1872T>C (p.Arg624=) c.2133T>C (p.Arg711=) c.2103T>C (p.Arg701=) c.1620T>C (p.Arg540=) c.1515T>C (p.Arg505=) | |
| 3 | g.122284057T>G | CA435425122 | CASR | c.1872T>G (p.Arg624=) c.2133T>G (p.Arg711=) c.2103T>G (p.Arg701=) c.1620T>G (p.Arg540=) c.1515T>G (p.Arg505=) | |
| 3 | g.122284058G>A | CA2569781 | CASR | c.1873G>A (p.Val625Ile) c.2134G>A (p.Val712Ile) c.2104G>A (p.Val702Ile) c.1621G>A (p.Val541Ile) c.1516G>A (p.Val506Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284058G>C | CA354158561 | CASR | c.1873G>C (p.Val625Leu) c.2134G>C (p.Val712Leu) c.2104G>C (p.Val702Leu) c.1621G>C (p.Val541Leu) c.1516G>C (p.Val506Leu) | ClinVar |
| 3 | g.122284058G= | CA1397871575 | CASR | c.1873G= (p.Val625=) c.2134G= (p.Val712=) c.2104G= (p.Val702=) c.1621G= (p.Val541=) c.1516G= (p.Val506=) | |
| 3 | g.122284058G>T | CA354158563 | CASR | c.1873G>T (p.Val625Phe) c.2134G>T (p.Val712Phe) c.2104G>T (p.Val702Phe) c.1621G>T (p.Val541Phe) c.1516G>T (p.Val506Phe) | |
| 3 | g.122284059T>A | CA354158566 | CASR | c.1874T>A (p.Val625Asp) c.2135T>A (p.Val712Asp) c.2105T>A (p.Val702Asp) c.1622T>A (p.Val541Asp) c.1517T>A (p.Val506Asp) | |
| 3 | g.122284059T>C | CA354158568 | CASR | c.1874T>C (p.Val625Ala) c.2135T>C (p.Val712Ala) c.2105T>C (p.Val702Ala) c.1622T>C (p.Val541Ala) c.1517T>C (p.Val506Ala) | ClinVar dbSNP |
| 3 | g.122284059T>G | CA354158570 | CASR | c.1874T>G (p.Val625Gly) c.2135T>G (p.Val712Gly) c.2105T>G (p.Val702Gly) c.1622T>G (p.Val541Gly) c.1517T>G (p.Val506Gly) | |
| 3 | g.122284059T= | CA1397871581 | CASR | c.1874T= (p.Val625=) c.2135T= (p.Val712=) c.2105T= (p.Val702=) c.1622T= (p.Val541=) c.1517T= (p.Val506=) | |
| 3 | g.122284062_122284063insGCTTGTCTTCGAGGCAAAGATCCCTACAAGCCTCCACCGAAAATGGTGGGGCCTCAACCTCCAGTTCCT | CA2531291523 | CASR | c.1877_1878insGCTTGTCTTCGAGGCAAAGATCCCTACAAGCCTCCACCGAAAATGGTGGGGCCTCAACCTCCAGTTCCT (p.Leu626_Leu627insLeuValPheGluAlaLysIleProThrSerLeuHisArgLysTrpTrpGlyLeuAsnLeuGlnPheLeu) c.2138_2139insGCTTGTCTTCGAGGCAAAGATCCCTACAAGCCTCCACCGAAAATGGTGGGGCCTCAACCTCCAGTTCCT (p.Leu713_Leu714insLeuValPheGluAlaLysIleProThrSerLeuHisArgLysTrpTrpGlyLeuAsnLeuGlnPheLeu) c.2108_2109insGCTTGTCTTCGAGGCAAAGATCCCTACAAGCCTCCACCGAAAATGGTGGGGCCTCAACCTCCAGTTCCT (p.Leu703_Leu704insLeuValPheGluAlaLysIleProThrSerLeuHisArgLysTrpTrpGlyLeuAsnLeuGlnPheLeu) c.1625_1626insGCTTGTCTTCGAGGCAAAGATCCCTACAAGCCTCCACCGAAAATGGTGGGGCCTCAACCTCCAGTTCCT (p.Leu542_Leu543insLeuValPheGluAlaLysIleProThrSerLeuHisArgLysTrpTrpGlyLeuAsnLeuGlnPheLeu) c.1520_1521insGCTTGTCTTCGAGGCAAAGATCCCTACAAGCCTCCACCGAAAATGGTGGGGCCTCAACCTCCAGTTCCT (p.Leu507_Leu508insLeuValPheGluAlaLysIleProThrSerLeuHisArgLysTrpTrpGlyLeuAsnLeuGlnPheLeu) | |
| 3 | g.122284060C>A | CA435425127 | CASR | c.1875C>A (p.Val625=) c.2136C>A (p.Val712=) c.2106C>A (p.Val702=) c.1623C>A (p.Val541=) c.1518C>A (p.Val506=) | |
| 3 | g.122284060C= | CA1397871587 | CASR | c.1875C= (p.Val625=) c.2136C= (p.Val712=) c.2106C= (p.Val702=) c.1623C= (p.Val541=) c.1518C= (p.Val506=) | |
| 3 | g.122284060C>G | CA435425126 | CASR | c.1875C>G (p.Val625=) c.2136C>G (p.Val712=) c.2106C>G (p.Val702=) c.1623C>G (p.Val541=) c.1518C>G (p.Val506=) | |
| 3 | g.122284060C>T | CA435425125 | CASR | c.1875C>T (p.Val625=) c.2136C>T (p.Val712=) c.2106C>T (p.Val702=) c.1623C>T (p.Val541=) c.1518C>T (p.Val506=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284061C>A | CA354158573 | CASR | c.1876C>A (p.Leu626Ile) c.2137C>A (p.Leu713Ile) c.2107C>A (p.Leu703Ile) c.1624C>A (p.Leu542Ile) c.1519C>A (p.Leu507Ile) | |
| 3 | g.122284061C>G | CA354158575 | CASR | c.1876C>G (p.Leu626Val) c.2137C>G (p.Leu713Val) c.2107C>G (p.Leu703Val) c.1624C>G (p.Leu542Val) c.1519C>G (p.Leu507Val) | |
| 3 | g.122284061C>T | CA354158577 | CASR | c.1876C>T (p.Leu626Phe) c.2137C>T (p.Leu713Phe) c.2107C>T (p.Leu703Phe) c.1624C>T (p.Leu542Phe) c.1519C>T (p.Leu507Phe) | |
| 3 | g.122284062T>A | CA354158579 | CASR | c.1877T>A (p.Leu626His) c.2138T>A (p.Leu713His) c.2108T>A (p.Leu703His) c.1625T>A (p.Leu542His) c.1520T>A (p.Leu507His) | |
| 3 | g.122284062T>C | CA10605790 | CASR | c.1877T>C (p.Leu626Pro) c.2138T>C (p.Leu713Pro) c.2108T>C (p.Leu703Pro) c.1625T>C (p.Leu542Pro) c.1520T>C (p.Leu507Pro) | ClinVar dbSNP |
| 3 | g.122284062T>G | CA354158582 | CASR | c.1877T>G (p.Leu626Arg) c.2138T>G (p.Leu713Arg) c.2108T>G (p.Leu703Arg) c.1625T>G (p.Leu542Arg) c.1520T>G (p.Leu507Arg) | |
| 3 | g.122284062T= | CA1397871592 | CASR | c.1877T= (p.Leu626=) c.2138T= (p.Leu713=) c.2108T= (p.Leu703=) c.1625T= (p.Leu542=) c.1520T= (p.Leu507=) | |
| 3 | g.122284063C>A | CA435425131 | CASR | c.1878C>A (p.Leu626=) c.2139C>A (p.Leu713=) c.2109C>A (p.Leu703=) c.1626C>A (p.Leu542=) c.1521C>A (p.Leu507=) | ClinVar |
| 3 | g.122284063C= | CA1397871597 | CASR | c.1878C= (p.Leu626=) c.2139C= (p.Leu713=) c.2109C= (p.Leu703=) c.1626C= (p.Leu542=) c.1521C= (p.Leu507=) | |
| 3 | g.122284063C>G | CA435425132 | CASR | c.1878C>G (p.Leu626=) c.2139C>G (p.Leu713=) c.2109C>G (p.Leu703=) c.1626C>G (p.Leu542=) c.1521C>G (p.Leu507=) | ClinVar dbSNP |
| 3 | g.122284063C>T | CA82748764 | CASR | c.1878C>T (p.Leu626=) c.2139C>T (p.Leu713=) c.2109C>T (p.Leu703=) c.1626C>T (p.Leu542=) c.1521C>T (p.Leu507=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284064C>A | CA354158588 | CASR | c.1879C>A (p.Leu627Met) c.2140C>A (p.Leu714Met) c.2110C>A (p.Leu704Met) c.1627C>A (p.Leu543Met) c.1522C>A (p.Leu508Met) | |
| 3 | g.122284064C>G | CA354158586 | CASR | c.1879C>G (p.Leu627Val) c.2140C>G (p.Leu714Val) c.2110C>G (p.Leu704Val) c.1627C>G (p.Leu543Val) c.1522C>G (p.Leu508Val) | |
| 3 | g.122284064C>T | CA435425133 | CASR | c.1879C>T (p.Leu627=) c.2140C>T (p.Leu714=) c.2110C>T (p.Leu704=) c.1627C>T (p.Leu543=) c.1522C>T (p.Leu508=) | ClinVar |
| 3 | g.122284065T>A | CA354158590 | CASR | c.1880T>A (p.Leu627Gln) c.2141T>A (p.Leu714Gln) c.2111T>A (p.Leu704Gln) c.1628T>A (p.Leu543Gln) c.1523T>A (p.Leu508Gln) | |
| 3 | g.122284065T>C | CA354158592 | CASR | c.1880T>C (p.Leu627Pro) c.2141T>C (p.Leu714Pro) c.2111T>C (p.Leu704Pro) c.1628T>C (p.Leu543Pro) c.1523T>C (p.Leu508Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284065T>G | CA354158594 | CASR | c.1880T>G (p.Leu627Arg) c.2141T>G (p.Leu714Arg) c.2111T>G (p.Leu704Arg) c.1628T>G (p.Leu543Arg) c.1523T>G (p.Leu508Arg) | |
| 3 | g.122284065T= | CA1397871604 | CASR | c.1880T= (p.Leu627=) c.2141T= (p.Leu714=) c.2111T= (p.Leu704=) c.1628T= (p.Leu543=) c.1523T= (p.Leu508=) | |
| 3 | g.122284067_122284069del | CA2740094573 | CASR | c.1882_1884del (p.Val628del) c.2143_2145del (p.Val715del) c.2113_2115del (p.Val705del) c.1630_1632del (p.Val544del) c.1525_1527del (p.Val509del) | ClinVar |
| 3 | g.122284066G>A | CA435425136 | CASR | c.1881G>A (p.Leu627=) c.2142G>A (p.Leu714=) c.2112G>A (p.Leu704=) c.1629G>A (p.Leu543=) c.1524G>A (p.Leu508=) | |
| 3 | g.122284066G>C | CA435425139 | CASR | c.1881G>C (p.Leu627=) c.2142G>C (p.Leu714=) c.2112G>C (p.Leu704=) c.1629G>C (p.Leu543=) c.1524G>C (p.Leu508=) | |
| 3 | g.122284066G>T | CA435425138 | CASR | c.1881G>T (p.Leu627=) c.2142G>T (p.Leu714=) c.2112G>T (p.Leu704=) c.1629G>T (p.Leu543=) c.1524G>T (p.Leu508=) | |
| 3 | g.122284067del | CA2758178882 | CASR | c.1882del (p.Val628CysfsTer?) c.2143del (p.Val715CysfsTer?) c.2113del (p.Val705CysfsTer?) c.1630del (p.Val544CysfsTer?) c.1525del (p.Val509CysfsTer?) | |
| 3 | g.122284068_122284076del | CA2740094574 | CASR | c.1883_1891del (p.Val628_Glu630del) c.2144_2152del (p.Val715_Glu717del) c.2114_2122del (p.Val705_Glu707del) c.1631_1639del (p.Val544_Glu546del) c.1526_1534del (p.Val509_Glu511del) | ClinVar |
| 3 | g.122284067G>A | CA354158597 | CASR | c.1882G>A (p.Val628Met) c.2143G>A (p.Val715Met) c.2113G>A (p.Val705Met) c.1630G>A (p.Val544Met) c.1525G>A (p.Val509Met) | |
| 3 | g.122284067G>C | CA354158599 | CASR | c.1882G>C (p.Val628Leu) c.2143G>C (p.Val715Leu) c.2113G>C (p.Val705Leu) c.1630G>C (p.Val544Leu) c.1525G>C (p.Val509Leu) | |
| 3 | g.122284067G>T | CA354158601 | CASR | c.1882G>T (p.Val628Leu) c.2143G>T (p.Val715Leu) c.2113G>T (p.Val705Leu) c.1630G>T (p.Val544Leu) c.1525G>T (p.Val509Leu) | |
| 3 | g.122284068T>A | CA354158603 | CASR | c.1883T>A (p.Val628Glu) c.2144T>A (p.Val715Glu) c.2114T>A (p.Val705Glu) c.1631T>A (p.Val544Glu) c.1526T>A (p.Val509Glu) | |
| 3 | g.122284068T>C | CA354158605 | CASR | c.1883T>C (p.Val628Ala) c.2144T>C (p.Val715Ala) c.2114T>C (p.Val705Ala) c.1631T>C (p.Val544Ala) c.1526T>C (p.Val509Ala) | ClinVar |
| 3 | g.122284068T>G | CA354158607 | CASR | c.1883T>G (p.Val628Gly) c.2144T>G (p.Val715Gly) c.2114T>G (p.Val705Gly) c.1631T>G (p.Val544Gly) c.1526T>G (p.Val509Gly) | |
| 3 | g.122284069G>A | CA435425142 | CASR | c.1884G>A (p.Val628=) c.2145G>A (p.Val715=) c.2115G>A (p.Val705=) c.1632G>A (p.Val544=) c.1527G>A (p.Val509=) | ClinVar gnomAD v4 |
| 3 | g.122284069G>C | CA435425143 | CASR | c.1884G>C (p.Val628=) c.2145G>C (p.Val715=) c.2115G>C (p.Val705=) c.1632G>C (p.Val544=) c.1527G>C (p.Val509=) | |
| 3 | g.122284069G>T | CA435425144 | CASR | c.1884G>T (p.Val628=) c.2145G>T (p.Val715=) c.2115G>T (p.Val705=) c.1632G>T (p.Val544=) c.1527G>T (p.Val509=) | |
| 3 | g.122284069_122284070delinsGT | CA1397871607 | CASR | c.1884_1885delinsGT (p.Val628=) c.2145_2146delinsGT (p.Val715=) c.2115_2116delinsGT (p.Val705=) c.1632_1633delinsGT (p.Val544=) c.1527_1528delinsGT (p.Val509=) | |
| 3 | g.122284070T>A | CA354158609 | CASR | c.1885T>A (p.Phe629Ile) c.2146T>A (p.Phe716Ile) c.2116T>A (p.Phe706Ile) c.1633T>A (p.Phe545Ile) c.1528T>A (p.Phe510Ile) | |
| 3 | g.122284070T>C | CA354158612 | CASR | c.1885T>C (p.Phe629Leu) c.2146T>C (p.Phe716Leu) c.2116T>C (p.Phe706Leu) c.1633T>C (p.Phe545Leu) c.1528T>C (p.Phe510Leu) | |
| 3 | g.122284070T>G | CA354158614 | CASR | c.1885T>G (p.Phe629Val) c.2146T>G (p.Phe716Val) c.2116T>G (p.Phe706Val) c.1633T>G (p.Phe545Val) c.1528T>G (p.Phe510Val) | |
| 3 | g.122284072del | CA82748765 | CASR | c.1887del (p.Phe629LeufsTer?) c.2148del (p.Phe716LeufsTer?) c.2118del (p.Phe706LeufsTer?) c.1635del (p.Phe545LeufsTer?) c.1530del (p.Phe510LeufsTer?) | dbSNP |
| 3 | g.122284071T>A | CA354158622 | CASR | c.1886T>A (p.Phe629Tyr) c.2147T>A (p.Phe716Tyr) c.2117T>A (p.Phe706Tyr) c.1634T>A (p.Phe545Tyr) c.1529T>A (p.Phe510Tyr) | |
| 3 | g.122284071T>C | CA354158619 | CASR | c.1886T>C (p.Phe629Ser) c.2147T>C (p.Phe716Ser) c.2117T>C (p.Phe706Ser) c.1634T>C (p.Phe545Ser) c.1529T>C (p.Phe510Ser) | |
| 3 | g.122284071T>G | CA354158617 | CASR | c.1886T>G (p.Phe629Cys) c.2147T>G (p.Phe716Cys) c.2117T>G (p.Phe706Cys) c.1634T>G (p.Phe545Cys) c.1529T>G (p.Phe510Cys) |