UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.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) | |
| 3 | g.122284072T>A | CA354158624 | CASR | c.1887T>A (p.Phe629Leu) c.2148T>A (p.Phe716Leu) c.2118T>A (p.Phe706Leu) c.1635T>A (p.Phe545Leu) c.1530T>A (p.Phe510Leu) | |
| 3 | g.122284072T>C | CA435425149 | CASR | c.1887T>C (p.Phe629=) c.2148T>C (p.Phe716=) c.2118T>C (p.Phe706=) c.1635T>C (p.Phe545=) c.1530T>C (p.Phe510=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284072T>G | CA354158626 | CASR | c.1887T>G (p.Phe629Leu) c.2148T>G (p.Phe716Leu) c.2118T>G (p.Phe706Leu) c.1635T>G (p.Phe545Leu) c.1530T>G (p.Phe510Leu) | |
| 3 | g.122284072T= | CA1397871613 | CASR | c.1887T= (p.Phe629=) c.2148T= (p.Phe716=) c.2118T= (p.Phe706=) c.1635T= (p.Phe545=) c.1530T= (p.Phe510=) | |
| 3 | g.122284073G>A | CA354158629 | CASR | c.1888G>A (p.Glu630Lys) c.2149G>A (p.Glu717Lys) c.2119G>A (p.Glu707Lys) c.1636G>A (p.Glu546Lys) c.1531G>A (p.Glu511Lys) | |
| 3 | g.122284073G>C | CA354158632 | CASR | c.1888G>C (p.Glu630Gln) c.2149G>C (p.Glu717Gln) c.2119G>C (p.Glu707Gln) c.1636G>C (p.Glu546Gln) c.1531G>C (p.Glu511Gln) | |
| 3 | g.122284073G>T | CA354158634 | CASR | c.1888G>T (p.Glu630Ter) c.2149G>T (p.Glu717Ter) c.2119G>T (p.Glu707Ter) c.1636G>T (p.Glu546Ter) c.1531G>T (p.Glu511Ter) | |
| 3 | g.122284074A>C | CA354158636 | CASR | c.1889A>C (p.Glu630Ala) c.2150A>C (p.Glu717Ala) c.2120A>C (p.Glu707Ala) c.1637A>C (p.Glu546Ala) c.1532A>C (p.Glu511Ala) | |
| 3 | g.122284074A>G | CA354158638 | CASR | c.1889A>G (p.Glu630Gly) c.2150A>G (p.Glu717Gly) c.2120A>G (p.Glu707Gly) c.1637A>G (p.Glu546Gly) c.1532A>G (p.Glu511Gly) | |
| 3 | g.122284074A>T | CA354158640 | CASR | c.1889A>T (p.Glu630Val) c.2150A>T (p.Glu717Val) c.2120A>T (p.Glu707Val) c.1637A>T (p.Glu546Val) c.1532A>T (p.Glu511Val) | |
| 3 | g.122284075G>A | CA435425152 | CASR | c.1890G>A (p.Glu630=) c.2151G>A (p.Glu717=) c.2121G>A (p.Glu707=) c.1638G>A (p.Glu546=) c.1533G>A (p.Glu511=) | ClinVar |
| 3 | g.122284075G>C | CA354158643 | CASR | c.1890G>C (p.Glu630Asp) c.2151G>C (p.Glu717Asp) c.2121G>C (p.Glu707Asp) c.1638G>C (p.Glu546Asp) c.1533G>C (p.Glu511Asp) | |
| 3 | g.122284075G>T | CA354158644 | CASR | c.1890G>T (p.Glu630Asp) c.2151G>T (p.Glu717Asp) c.2121G>T (p.Glu707Asp) c.1638G>T (p.Glu546Asp) c.1533G>T (p.Glu511Asp) | |
| 3 | g.122284076G>A | CA354158646 | CASR | c.1891G>A (p.Ala631Thr) c.2152G>A (p.Ala718Thr) c.2122G>A (p.Ala708Thr) c.1639G>A (p.Ala547Thr) c.1534G>A (p.Ala512Thr) | ClinVar dbSNP |
| 3 | g.122284076G>C | CA354158648 | CASR | c.1891G>C (p.Ala631Pro) c.2152G>C (p.Ala718Pro) c.2122G>C (p.Ala708Pro) c.1639G>C (p.Ala547Pro) c.1534G>C (p.Ala512Pro) | |
| 3 | g.122284076G= | CA1397871619 | CASR | c.1891G= (p.Ala631=) c.2152G= (p.Ala718=) c.2122G= (p.Ala708=) c.1639G= (p.Ala547=) c.1534G= (p.Ala512=) | |
| 3 | g.122284076G>T | CA354158651 | CASR | c.1891G>T (p.Ala631Ser) c.2152G>T (p.Ala718Ser) c.2122G>T (p.Ala708Ser) c.1639G>T (p.Ala547Ser) c.1534G>T (p.Ala512Ser) | |
| 3 | g.122284077C>A | CA354158657 | CASR | c.1892C>A (p.Ala631Asp) c.2153C>A (p.Ala718Asp) c.2123C>A (p.Ala708Asp) c.1640C>A (p.Ala547Asp) c.1535C>A (p.Ala512Asp) | |
| 3 | g.122284077C>G | CA354158656 | CASR | c.1892C>G (p.Ala631Gly) c.2153C>G (p.Ala718Gly) c.2123C>G (p.Ala708Gly) c.1640C>G (p.Ala547Gly) c.1535C>G (p.Ala512Gly) | |
| 3 | g.122284077C>T | CA354158654 | CASR | c.1892C>T (p.Ala631Val) c.2153C>T (p.Ala718Val) c.2123C>T (p.Ala708Val) c.1640C>T (p.Ala547Val) c.1535C>T (p.Ala512Val) | ClinVar |
| 3 | g.122284078C>A | CA435425155 | CASR | c.1893C>A (p.Ala631=) c.2154C>A (p.Ala718=) c.2124C>A (p.Ala708=) c.1641C>A (p.Ala547=) c.1536C>A (p.Ala512=) | COSMIC |
| 3 | g.122284078C= | CA1397871626 | CASR | c.1893C= (p.Ala631=) c.2154C= (p.Ala718=) c.2124C= (p.Ala708=) c.1641C= (p.Ala547=) c.1536C= (p.Ala512=) | |
| 3 | g.122284078C>G | CA435425157 | CASR | c.1893C>G (p.Ala631=) c.2154C>G (p.Ala718=) c.2124C>G (p.Ala708=) c.1641C>G (p.Ala547=) c.1536C>G (p.Ala512=) | gnomAD v4 |
| 3 | g.122284078C>T | CA435425158 | CASR | c.1893C>T (p.Ala631=) c.2154C>T (p.Ala718=) c.2124C>T (p.Ala708=) c.1641C>T (p.Ala547=) c.1536C>T (p.Ala512=) | dbSNP gnomAD v2 |
| 3 | g.122284079A>C | CA354158659 | CASR | c.1894A>C (p.Lys632Gln) c.2155A>C (p.Lys719Gln) c.2125A>C (p.Lys709Gln) c.1642A>C (p.Lys548Gln) c.1537A>C (p.Lys513Gln) | |
| 3 | g.122284079A>G | CA354158661 | CASR | c.1894A>G (p.Lys632Glu) c.2155A>G (p.Lys719Glu) c.2125A>G (p.Lys709Glu) c.1642A>G (p.Lys548Glu) c.1537A>G (p.Lys513Glu) | |
| 3 | g.122284079A>T | CA354158664 | CASR | c.1894A>T (p.Lys632Ter) c.2155A>T (p.Lys719Ter) c.2125A>T (p.Lys709Ter) c.1642A>T (p.Lys548Ter) c.1537A>T (p.Lys513Ter) | |
| 3 | g.122284080A>C | CA354158667 | CASR | c.1895A>C (p.Lys632Thr) c.2156A>C (p.Lys719Thr) c.2126A>C (p.Lys709Thr) c.1643A>C (p.Lys548Thr) c.1538A>C (p.Lys513Thr) | |
| 3 | g.122284080A>G | CA354158669 | CASR | c.1895A>G (p.Lys632Arg) c.2156A>G (p.Lys719Arg) c.2126A>G (p.Lys709Arg) c.1643A>G (p.Lys548Arg) c.1538A>G (p.Lys513Arg) | |
| 3 | g.122284080A>T | CA354158671 | CASR | c.1895A>T (p.Lys632Met) c.2156A>T (p.Lys719Met) c.2126A>T (p.Lys709Met) c.1643A>T (p.Lys548Met) c.1538A>T (p.Lys513Met) | |
| 3 | g.122284081G>A | CA435425162 | CASR | c.1896G>A (p.Lys632=) c.2157G>A (p.Lys719=) c.2127G>A (p.Lys709=) c.1644G>A (p.Lys548=) c.1539G>A (p.Lys513=) | ClinVar |
| 3 | g.122284081G>C | CA354158673 | CASR | c.1896G>C (p.Lys632Asn) c.2157G>C (p.Lys719Asn) c.2127G>C (p.Lys709Asn) c.1644G>C (p.Lys548Asn) c.1539G>C (p.Lys513Asn) | |
| 3 | g.122284081G>T | CA354158675 | CASR | c.1896G>T (p.Lys632Asn) c.2157G>T (p.Lys719Asn) c.2127G>T (p.Lys709Asn) c.1644G>T (p.Lys548Asn) c.1539G>T (p.Lys513Asn) | COSMIC |
| 3 | g.122284082A>C | CA354158677 | CASR | c.1897A>C (p.Ile633Leu) c.2158A>C (p.Ile720Leu) c.2128A>C (p.Ile710Leu) c.1645A>C (p.Ile549Leu) c.1540A>C (p.Ile514Leu) | |
| 3 | g.122284082A>G | CA354158681 | CASR | c.1897A>G (p.Ile633Val) c.2158A>G (p.Ile720Val) c.2128A>G (p.Ile710Val) c.1645A>G (p.Ile549Val) c.1540A>G (p.Ile514Val) | |
| 3 | g.122284082A>T | CA354158679 | CASR | c.1897A>T (p.Ile633Phe) c.2158A>T (p.Ile720Phe) c.2128A>T (p.Ile710Phe) c.1645A>T (p.Ile549Phe) c.1540A>T (p.Ile514Phe) | |
| 3 | g.122284082_122284083delinsAT | CA1397871628 | CASR | c.1897_1898delinsAT (p.Ile633=) c.2158_2159delinsAT (p.Ile720=) c.2128_2129delinsAT (p.Ile710=) c.1645_1646delinsAT (p.Ile549=) c.1540_1541delinsAT (p.Ile514=) | |
| 3 | g.122284083del | CA545962753 | CASR | c.1898del (p.Ile633ThrfsTer?) c.2159del (p.Ile720ThrfsTer?) c.2129del (p.Ile710ThrfsTer?) c.1646del (p.Ile549ThrfsTer?) c.1541del (p.Ile514ThrfsTer?) | dbSNP gnomAD v2 |
| 3 | g.122284083T>A | CA354158683 | CASR | c.1898T>A (p.Ile633Asn) c.2159T>A (p.Ile720Asn) c.2129T>A (p.Ile710Asn) c.1646T>A (p.Ile549Asn) c.1541T>A (p.Ile514Asn) | |
| 3 | g.122284083T>C | CA354158685 | CASR | c.1898T>C (p.Ile633Thr) c.2159T>C (p.Ile720Thr) c.2129T>C (p.Ile710Thr) c.1646T>C (p.Ile549Thr) c.1541T>C (p.Ile514Thr) | ClinVar dbSNP |
| 3 | g.122284083T>G | CA354158687 | CASR | c.1898T>G (p.Ile633Ser) c.2159T>G (p.Ile720Ser) c.2129T>G (p.Ile710Ser) c.1646T>G (p.Ile549Ser) c.1541T>G (p.Ile514Ser) | |
| 3 | g.122284084C>A | CA435425165 | CASR | c.1899C>A (p.Ile633=) c.2160C>A (p.Ile720=) c.2130C>A (p.Ile710=) c.1647C>A (p.Ile549=) c.1542C>A (p.Ile514=) | ClinVar |
| 3 | g.122284084C>G | CA354158689 | CASR | c.1899C>G (p.Ile633Met) c.2160C>G (p.Ile720Met) c.2130C>G (p.Ile710Met) c.1647C>G (p.Ile549Met) c.1542C>G (p.Ile514Met) | |
| 3 | g.122284084C>T | CA435425166 | CASR | c.1899C>T (p.Ile633=) c.2160C>T (p.Ile720=) c.2130C>T (p.Ile710=) c.1647C>T (p.Ile549=) c.1542C>T (p.Ile514=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284084_122284085delinsAA | CA1139658228 | CASR | c.1899_1900delinsAA (p.Pro634Thr) c.2160_2161delinsAA (p.Pro721Thr) c.2130_2131delinsAA (p.Pro711Thr) c.1647_1648delinsAA (p.Pro550Thr) c.1542_1543delinsAA (p.Pro515Thr) | ClinVar dbSNP |
| 3 | g.122284084_122284085delinsCC | CA1397871635 | CASR | c.1899_1900delinsCC (p.Ile633=) c.2160_2161delinsCC (p.Ile720=) c.2130_2131delinsCC (p.Ile710=) c.1647_1648delinsCC (p.Ile549=) c.1542_1543delinsCC (p.Ile514=) | |
| 3 | g.122284085C>A | CA354158691 | CASR | c.1900C>A (p.Pro634Thr) c.2161C>A (p.Pro721Thr) c.2131C>A (p.Pro711Thr) c.1648C>A (p.Pro550Thr) c.1543C>A (p.Pro515Thr) | |
| 3 | g.122284085C>G | CA354158695 | CASR | c.1900C>G (p.Pro634Ala) c.2161C>G (p.Pro721Ala) c.2131C>G (p.Pro711Ala) c.1648C>G (p.Pro550Ala) c.1543C>G (p.Pro515Ala) | |
| 3 | g.122284085C>T | CA354158693 | CASR | c.1900C>T (p.Pro634Ser) c.2161C>T (p.Pro721Ser) c.2131C>T (p.Pro711Ser) c.1648C>T (p.Pro550Ser) c.1543C>T (p.Pro515Ser) | ClinVar |
| 3 | g.122284086C>A | CA354158697 | CASR | c.1901C>A (p.Pro634His) c.2162C>A (p.Pro721His) c.2132C>A (p.Pro711His) c.1649C>A (p.Pro550His) c.1544C>A (p.Pro515His) | |
| 3 | g.122284086C>G | CA354158699 | CASR | c.1901C>G (p.Pro634Arg) c.2162C>G (p.Pro721Arg) c.2132C>G (p.Pro711Arg) c.1649C>G (p.Pro550Arg) c.1544C>G (p.Pro515Arg) | |
| 3 | g.122284086C>T | CA354158700 | CASR | c.1901C>T (p.Pro634Leu) c.2162C>T (p.Pro721Leu) c.2132C>T (p.Pro711Leu) c.1649C>T (p.Pro550Leu) c.1544C>T (p.Pro515Leu) | |
| 3 | g.122284087C>A | CA435425174 | CASR | c.1902C>A (p.Pro634=) c.2163C>A (p.Pro721=) c.2133C>A (p.Pro711=) c.1650C>A (p.Pro550=) c.1545C>A (p.Pro515=) | |
| 3 | g.122284087C>G | CA435425177 | CASR | c.1902C>G (p.Pro634=) c.2163C>G (p.Pro721=) c.2133C>G (p.Pro711=) c.1650C>G (p.Pro550=) c.1545C>G (p.Pro515=) | |
| 3 | g.122284087C>T | CA435425180 | CASR | c.1902C>T (p.Pro634=) c.2163C>T (p.Pro721=) c.2133C>T (p.Pro711=) c.1650C>T (p.Pro550=) c.1545C>T (p.Pro515=) | ClinVar |
| 3 | g.122284088A= | CA1397871639 | CASR | c.1903A= (p.Thr635=) c.2164A= (p.Thr722=) c.2134A= (p.Thr712=) c.1651A= (p.Thr551=) c.1546A= (p.Thr516=) | |
| 3 | g.122284088A>C | CA354158702 | CASR | c.1903A>C (p.Thr635Pro) c.2164A>C (p.Thr722Pro) c.2134A>C (p.Thr712Pro) c.1651A>C (p.Thr551Pro) c.1546A>C (p.Thr516Pro) | |
| 3 | g.122284088A>G | CA16611123 | CASR | c.1903A>G (p.Thr635Ala) c.2164A>G (p.Thr722Ala) c.2134A>G (p.Thr712Ala) c.1651A>G (p.Thr551Ala) c.1546A>G (p.Thr516Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284088A>T | CA354158705 | CASR | c.1903A>T (p.Thr635Ser) c.2164A>T (p.Thr722Ser) c.2134A>T (p.Thr712Ser) c.1651A>T (p.Thr551Ser) c.1546A>T (p.Thr516Ser) | |
| 3 | g.122284089C>A | CA2569782 | CASR | c.1904C>A (p.Thr635Asn) c.2165C>A (p.Thr722Asn) c.2135C>A (p.Thr712Asn) c.1652C>A (p.Thr551Asn) c.1547C>A (p.Thr516Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284089C= | CA1397871644 | CASR | c.1904C= (p.Thr635=) c.2165C= (p.Thr722=) c.2135C= (p.Thr712=) c.1652C= (p.Thr551=) c.1547C= (p.Thr516=) | |
| 3 | g.122284089C>G | CA354158708 | CASR | c.1904C>G (p.Thr635Ser) c.2165C>G (p.Thr722Ser) c.2135C>G (p.Thr712Ser) c.1652C>G (p.Thr551Ser) c.1547C>G (p.Thr516Ser) | ClinVar dbSNP |
| 3 | g.122284089C>T | CA354158710 | CASR | c.1904C>T (p.Thr635Ile) c.2165C>T (p.Thr722Ile) c.2135C>T (p.Thr712Ile) c.1652C>T (p.Thr551Ile) c.1547C>T (p.Thr516Ile) | COSMIC |
| 3 | g.122284090C>A | CA435425184 | CASR | c.1905C>A (p.Thr635=) c.2166C>A (p.Thr722=) c.2136C>A (p.Thr712=) c.1653C>A (p.Thr551=) c.1548C>A (p.Thr516=) | ClinVar |
| 3 | g.122284090C>G | CA435425185 | CASR | c.1905C>G (p.Thr635=) c.2166C>G (p.Thr722=) c.2136C>G (p.Thr712=) c.1653C>G (p.Thr551=) c.1548C>G (p.Thr516=) | |
| 3 | g.122284090C>T | CA435425186 | CASR | c.1905C>T (p.Thr635=) c.2166C>T (p.Thr722=) c.2136C>T (p.Thr712=) c.1653C>T (p.Thr551=) c.1548C>T (p.Thr516=) | |
| 3 | g.122284091A= | CA1397871650 | CASR | c.1906A= (p.Ser636=) c.2167A= (p.Ser723=) c.2137A= (p.Ser713=) c.1654A= (p.Ser552=) c.1549A= (p.Ser517=) | |
| 3 | g.122284091A>C | CA354158713 | CASR | c.1906A>C (p.Ser636Arg) c.2167A>C (p.Ser723Arg) c.2137A>C (p.Ser713Arg) c.1654A>C (p.Ser552Arg) c.1549A>C (p.Ser517Arg) | |
| 3 | g.122284091A>G | CA2569783 | CASR | c.1906A>G (p.Ser636Gly) c.2167A>G (p.Ser723Gly) c.2137A>G (p.Ser713Gly) c.1654A>G (p.Ser552Gly) c.1549A>G (p.Ser517Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.122284091A>T | CA354158716 | CASR | c.1906A>T (p.Ser636Cys) c.2167A>T (p.Ser723Cys) c.2137A>T (p.Ser713Cys) c.1654A>T (p.Ser552Cys) c.1549A>T (p.Ser517Cys) | |
| 3 | g.122284092G>A | CA354158718 | CASR | c.1907G>A (p.Ser636Asn) c.2168G>A (p.Ser723Asn) c.2138G>A (p.Ser713Asn) c.1655G>A (p.Ser552Asn) c.1550G>A (p.Ser517Asn) | |
| 3 | g.122284092G>C | CA354158722 | CASR | c.1907G>C (p.Ser636Thr) c.2168G>C (p.Ser723Thr) c.2138G>C (p.Ser713Thr) c.1655G>C (p.Ser552Thr) c.1550G>C (p.Ser517Thr) | |
| 3 | g.122284092G>T | CA354158720 | CASR | c.1907G>T (p.Ser636Ile) c.2168G>T (p.Ser723Ile) c.2138G>T (p.Ser713Ile) c.1655G>T (p.Ser552Ile) c.1550G>T (p.Ser517Ile) | |
| 3 | g.122284093C>A | CA354158724 | CASR | c.1908C>A (p.Ser636Arg) c.2169C>A (p.Ser723Arg) c.2139C>A (p.Ser713Arg) c.1656C>A (p.Ser552Arg) c.1551C>A (p.Ser517Arg) | |
| 3 | g.122284093C= | CA1397871655 | CASR | c.1908C= (p.Ser636=) c.2169C= (p.Ser723=) c.2139C= (p.Ser713=) c.1656C= (p.Ser552=) c.1551C= (p.Ser517=) | |
| 3 | g.122284093C>G | CA354158726 | CASR | c.1908C>G (p.Ser636Arg) c.2169C>G (p.Ser723Arg) c.2139C>G (p.Ser713Arg) c.1656C>G (p.Ser552Arg) c.1551C>G (p.Ser517Arg) | |
| 3 | g.122284093C>T | CA82748767 | CASR | c.1908C>T (p.Ser636=) c.2169C>T (p.Ser723=) c.2139C>T (p.Ser713=) c.1656C>T (p.Ser552=) c.1551C>T (p.Ser517=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284094T>A | CA354158730 | CASR | c.1909T>A (p.Phe637Ile) c.2170T>A (p.Phe724Ile) c.2140T>A (p.Phe714Ile) c.1657T>A (p.Phe553Ile) c.1552T>A (p.Phe518Ile) | |
| 3 | g.122284094T>C | CA354158732 | CASR | c.1909T>C (p.Phe637Leu) c.2170T>C (p.Phe724Leu) c.2140T>C (p.Phe714Leu) c.1657T>C (p.Phe553Leu) c.1552T>C (p.Phe518Leu) | ClinVar dbSNP |
| 3 | g.122284094T>G | CA354158734 | CASR | c.1909T>G (p.Phe637Val) c.2170T>G (p.Phe724Val) c.2140T>G (p.Phe714Val) c.1657T>G (p.Phe553Val) c.1552T>G (p.Phe518Val) | |
| 3 | g.122284094T= | CA1397871660 | CASR | c.1909T= (p.Phe637=) c.2170T= (p.Phe724=) c.2140T= (p.Phe714=) c.1657T= (p.Phe553=) c.1552T= (p.Phe518=) | |
| 3 | g.122284095T>A | CA354158737 | CASR | c.1910T>A (p.Phe637Tyr) c.2171T>A (p.Phe724Tyr) c.2141T>A (p.Phe714Tyr) c.1658T>A (p.Phe553Tyr) c.1553T>A (p.Phe518Tyr) | |
| 3 | g.122284095T>C | CA354158738 | CASR | c.1910T>C (p.Phe637Ser) c.2171T>C (p.Phe724Ser) c.2141T>C (p.Phe714Ser) c.1658T>C (p.Phe553Ser) c.1553T>C (p.Phe518Ser) | |
| 3 | g.122284095T>G | CA354158740 | CASR | c.1910T>G (p.Phe637Cys) c.2171T>G (p.Phe724Cys) c.2141T>G (p.Phe714Cys) c.1658T>G (p.Phe553Cys) c.1553T>G (p.Phe518Cys) | |
| 3 | g.122284096C>A | CA354158743 | CASR | c.1911C>A (p.Phe637Leu) c.2172C>A (p.Phe724Leu) c.2142C>A (p.Phe714Leu) c.1659C>A (p.Phe553Leu) c.1554C>A (p.Phe518Leu) | |
| 3 | g.122284096C= | CA1397871670 | CASR | c.1911C= (p.Phe637=) c.2172C= (p.Phe724=) c.2142C= (p.Phe714=) c.1659C= (p.Phe553=) c.1554C= (p.Phe518=) | |
| 3 | g.122284096C>G | CA354158745 | CASR | c.1911C>G (p.Phe637Leu) c.2172C>G (p.Phe724Leu) c.2142C>G (p.Phe714Leu) c.1659C>G (p.Phe553Leu) c.1554C>G (p.Phe518Leu) | |
| 3 | g.122284096C>T | CA2569784 | CASR | c.1911C>T (p.Phe637=) c.2172C>T (p.Phe724=) c.2142C>T (p.Phe714=) c.1659C>T (p.Phe553=) c.1554C>T (p.Phe518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284097C>A | CA354158751 | CASR | c.1912C>A (p.His638Asn) c.2173C>A (p.His725Asn) c.2143C>A (p.His715Asn) c.1660C>A (p.His554Asn) c.1555C>A (p.His519Asn) | ClinVar dbSNP |
| 3 | g.122284097C= | CA1397871673 | CASR | c.1912C= (p.His638=) c.2173C= (p.His725=) c.2143C= (p.His715=) c.1660C= (p.His554=) c.1555C= (p.His519=) | |
| 3 | g.122284097C>G | CA354158750 | CASR | c.1912C>G (p.His638Asp) c.2173C>G (p.His725Asp) c.2143C>G (p.His715Asp) c.1660C>G (p.His554Asp) c.1555C>G (p.His519Asp) | gnomAD v4 |
| 3 | g.122284097C>T | CA354158748 | CASR | c.1912C>T (p.His638Tyr) c.2173C>T (p.His725Tyr) c.2143C>T (p.His715Tyr) c.1660C>T (p.His554Tyr) c.1555C>T (p.His519Tyr) | ClinVar dbSNP |
| 3 | g.122284098A= | CA1397871677 | CASR | c.1913A= (p.His638=) c.2174A= (p.His725=) c.2144A= (p.His715=) c.1661A= (p.His554=) c.1556A= (p.His519=) | |
| 3 | g.122284098A>C | CA354158753 | CASR | c.1913A>C (p.His638Pro) c.2174A>C (p.His725Pro) c.2144A>C (p.His715Pro) c.1661A>C (p.His554Pro) c.1556A>C (p.His519Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284098A>G | CA354158755 | CASR | c.1913A>G (p.His638Arg) c.2174A>G (p.His725Arg) c.2144A>G (p.His715Arg) c.1661A>G (p.His554Arg) c.1556A>G (p.His519Arg) | |
| 3 | g.122284098A>T | CA354158757 | CASR | c.1913A>T (p.His638Leu) c.2174A>T (p.His725Leu) c.2144A>T (p.His715Leu) c.1661A>T (p.His554Leu) c.1556A>T (p.His519Leu) | |
| 3 | g.122284099C>A | CA354158759 | CASR | c.1914C>A (p.His638Gln) c.2175C>A (p.His725Gln) c.2145C>A (p.His715Gln) c.1662C>A (p.His554Gln) c.1557C>A (p.His519Gln) | |
| 3 | g.122284099C= | CA1397871682 | CASR | c.1914C= (p.His638=) c.2175C= (p.His725=) c.2145C= (p.His715=) c.1662C= (p.His554=) c.1557C= (p.His519=) | |
| 3 | g.122284099C>G | CA354158762 | CASR | c.1914C>G (p.His638Gln) c.2175C>G (p.His725Gln) c.2145C>G (p.His715Gln) c.1662C>G (p.His554Gln) c.1557C>G (p.His519Gln) | |
| 3 | g.122284099C>T | CA2569785 | CASR | c.1914C>T (p.His638=) c.2175C>T (p.His725=) c.2145C>T (p.His715=) c.1662C>T (p.His554=) c.1557C>T (p.His519=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284100C>A | CA354158765 | CASR | c.1915C>A (p.Arg639Ser) c.2176C>A (p.Arg726Ser) c.2146C>A (p.Arg716Ser) c.1663C>A (p.Arg555Ser) c.1558C>A (p.Arg520Ser) | gnomAD v4 |
| 3 | g.122284100C= | CA1397871686 | CASR | c.1915C= (p.Arg639=) c.2176C= (p.Arg726=) c.2146C= (p.Arg716=) c.1663C= (p.Arg555=) c.1558C= (p.Arg520=) | |
| 3 | g.122284100C>G | CA354158767 | CASR | c.1915C>G (p.Arg639Gly) c.2176C>G (p.Arg726Gly) c.2146C>G (p.Arg716Gly) c.1663C>G (p.Arg555Gly) c.1558C>G (p.Arg520Gly) | ClinVar dbSNP |
| 3 | g.122284100C>T | CA2569786 | CASR | c.1915C>T (p.Arg639Cys) c.2176C>T (p.Arg726Cys) c.2146C>T (p.Arg716Cys) c.1663C>T (p.Arg555Cys) c.1558C>T (p.Arg520Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284101G>A | CA2569787 | CASR | c.1916G>A (p.Arg639His) c.2177G>A (p.Arg726His) c.2147G>A (p.Arg716His) c.1664G>A (p.Arg555His) c.1559G>A (p.Arg520His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284101G>C | CA354158772 | CASR | c.1916G>C (p.Arg639Pro) c.2177G>C (p.Arg726Pro) c.2147G>C (p.Arg716Pro) c.1664G>C (p.Arg555Pro) c.1559G>C (p.Arg520Pro) | ClinVar dbSNP |
| 3 | g.122284101G= | CA1397871695 | CASR | c.1916G= (p.Arg639=) c.2177G= (p.Arg726=) c.2147G= (p.Arg716=) c.1664G= (p.Arg555=) c.1559G= (p.Arg520=) | |
| 3 | g.122284101G>T | CA354158774 | CASR | c.1916G>T (p.Arg639Leu) c.2177G>T (p.Arg726Leu) c.2147G>T (p.Arg716Leu) c.1664G>T (p.Arg555Leu) c.1559G>T (p.Arg520Leu) | |
| 3 | g.122284102C>A | CA435425200 | CASR | c.1917C>A (p.Arg639=) c.2178C>A (p.Arg726=) c.2148C>A (p.Arg716=) c.1665C>A (p.Arg555=) c.1560C>A (p.Arg520=) | |
| 3 | g.122284102C>G | CA435425202 | CASR | c.1917C>G (p.Arg639=) c.2178C>G (p.Arg726=) c.2148C>G (p.Arg716=) c.1665C>G (p.Arg555=) c.1560C>G (p.Arg520=) | ClinVar |
| 3 | g.122284102C>T | CA435425205 | CASR | c.1917C>T (p.Arg639=) c.2178C>T (p.Arg726=) c.2148C>T (p.Arg716=) c.1665C>T (p.Arg555=) c.1560C>T (p.Arg520=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284102dup | CA2573136460 | CASR | c.1917dup (p.Lys640GlnfsTer?) c.2178dup (p.Lys727GlnfsTer?) c.2148dup (p.Lys717GlnfsTer?) c.1665dup (p.Lys556GlnfsTer?) c.1560dup (p.Lys521GlnfsTer?) | ClinVar dbSNP |
| 3 | g.122284103A>C | CA354158777 | CASR | c.1918A>C (p.Lys640Gln) c.2179A>C (p.Lys727Gln) c.2149A>C (p.Lys717Gln) c.1666A>C (p.Lys556Gln) c.1561A>C (p.Lys521Gln) | |
| 3 | g.122284103A>G | CA354158782 | CASR | c.1918A>G (p.Lys640Glu) c.2179A>G (p.Lys727Glu) c.2149A>G (p.Lys717Glu) c.1666A>G (p.Lys556Glu) c.1561A>G (p.Lys521Glu) | |
| 3 | g.122284103A>T | CA354158780 | CASR | c.1918A>T (p.Lys640Ter) c.2179A>T (p.Lys727Ter) c.2149A>T (p.Lys717Ter) c.1666A>T (p.Lys556Ter) c.1561A>T (p.Lys521Ter) | |
| 3 | g.122284104A= | CA1397871704 | CASR | c.1919A= (p.Lys640=) c.2180A= (p.Lys727=) c.2150A= (p.Lys717=) c.1667A= (p.Lys556=) c.1562A= (p.Lys521=) | |
| 3 | g.122284104A>C | CA354158784 | CASR | c.1919A>C (p.Lys640Thr) c.2180A>C (p.Lys727Thr) c.2150A>C (p.Lys717Thr) c.1667A>C (p.Lys556Thr) c.1562A>C (p.Lys521Thr) | |
| 3 | g.122284104A>G | CA354158785 | CASR | c.1919A>G (p.Lys640Arg) c.2180A>G (p.Lys727Arg) c.2150A>G (p.Lys717Arg) c.1667A>G (p.Lys556Arg) c.1562A>G (p.Lys521Arg) | dbSNP |
| 3 | g.122284104A>T | CA354158787 | CASR | c.1919A>T (p.Lys640Met) c.2180A>T (p.Lys727Met) c.2150A>T (p.Lys717Met) c.1667A>T (p.Lys556Met) c.1562A>T (p.Lys521Met) | |
| 3 | g.122284105G>A | CA2569788 | CASR | c.1920G>A (p.Lys640=) c.2181G>A (p.Lys727=) c.2151G>A (p.Lys717=) c.1668G>A (p.Lys556=) c.1563G>A (p.Lys521=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284105G>C | CA354158790 | CASR | c.1920G>C (p.Lys640Asn) c.2181G>C (p.Lys727Asn) c.2151G>C (p.Lys717Asn) c.1668G>C (p.Lys556Asn) c.1563G>C (p.Lys521Asn) | ClinVar |
| 3 | g.122284105G= | CA1397871706 | CASR | c.1920G= (p.Lys640=) c.2181G= (p.Lys727=) c.2151G= (p.Lys717=) c.1668G= (p.Lys556=) c.1563G= (p.Lys521=) | |
| 3 | g.122284105G>T | CA354158793 | CASR | c.1920G>T (p.Lys640Asn) c.2181G>T (p.Lys727Asn) c.2151G>T (p.Lys717Asn) c.1668G>T (p.Lys556Asn) c.1563G>T (p.Lys521Asn) | |
| 3 | g.122284106T>A | CA354158800 | CASR | c.1921T>A (p.Trp641Arg) c.2182T>A (p.Trp728Arg) c.2152T>A (p.Trp718Arg) c.1669T>A (p.Trp557Arg) c.1564T>A (p.Trp522Arg) | gnomAD v4 |
| 3 | g.122284106T>C | CA354158798 | CASR | c.1921T>C (p.Trp641Arg) c.2182T>C (p.Trp728Arg) c.2152T>C (p.Trp718Arg) c.1669T>C (p.Trp557Arg) c.1564T>C (p.Trp522Arg) | |
| 3 | g.122284106T>G | CA354158796 | CASR | c.1921T>G (p.Trp641Gly) c.2182T>G (p.Trp728Gly) c.2152T>G (p.Trp718Gly) c.1669T>G (p.Trp557Gly) c.1564T>G (p.Trp522Gly) | gnomAD v4 |
| 3 | g.122284107G>A | CA354158803 | CASR | c.1922G>A (p.Trp641Ter) c.2183G>A (p.Trp728Ter) c.2153G>A (p.Trp718Ter) c.1670G>A (p.Trp557Ter) c.1565G>A (p.Trp522Ter) | |
| 3 | g.122284107G>C | CA354158804 | CASR | c.1922G>C (p.Trp641Ser) c.2183G>C (p.Trp728Ser) c.2153G>C (p.Trp718Ser) c.1670G>C (p.Trp557Ser) c.1565G>C (p.Trp522Ser) | ClinVar |
| 3 | g.122284107G= | CA1397871710 | CASR | c.1922G= (p.Trp641=) c.2183G= (p.Trp728=) c.2153G= (p.Trp718=) c.1670G= (p.Trp557=) c.1565G= (p.Trp522=) | |
| 3 | g.122284107G>T | CA82748772 | CASR | c.1922G>T (p.Trp641Leu) c.2183G>T (p.Trp728Leu) c.2153G>T (p.Trp718Leu) c.1670G>T (p.Trp557Leu) c.1565G>T (p.Trp522Leu) | ClinVar dbSNP |
| 3 | g.122284107_122284108delinsGG | CA1397871712 | CASR | c.1922_1923delinsGG (p.Trp641=) c.2183_2184delinsGG (p.Trp728=) c.2153_2154delinsGG (p.Trp718=) c.1670_1671delinsGG (p.Trp557=) c.1565_1566delinsGG (p.Trp522=) | |
| 3 | g.122284108G>A | CA354158807 | CASR | c.1923G>A (p.Trp641Ter) c.2184G>A (p.Trp728Ter) c.2154G>A (p.Trp718Ter) c.1671G>A (p.Trp557Ter) c.1566G>A (p.Trp522Ter) | ClinVar dbSNP |
| 3 | g.122284108G>C | CA354158811 | CASR | c.1923G>C (p.Trp641Cys) c.2184G>C (p.Trp728Cys) c.2154G>C (p.Trp718Cys) c.1671G>C (p.Trp557Cys) c.1566G>C (p.Trp522Cys) | ClinVar dbSNP |
| 3 | g.122284108G= | CA1397871720 | CASR | c.1923G= (p.Trp641=) c.2184G= (p.Trp728=) c.2154G= (p.Trp718=) c.1671G= (p.Trp557=) c.1566G= (p.Trp522=) | |
| 3 | g.122284108G>T | CA354158813 | CASR | c.1923G>T (p.Trp641Cys) c.2184G>T (p.Trp728Cys) c.2154G>T (p.Trp718Cys) c.1671G>T (p.Trp557Cys) c.1566G>T (p.Trp522Cys) | |
| 3 | g.122284108delinsCC | CA16617818 | CASR | c.1923delinsCC (p.Trp641CysfsTer?) c.2184delinsCC (p.Trp728CysfsTer?) c.2154delinsCC (p.Trp718CysfsTer?) c.1671delinsCC (p.Trp557CysfsTer?) c.1566delinsCC (p.Trp522CysfsTer?) | ClinVar dbSNP |
| 3 | g.122284109T>A | CA354158816 | CASR | c.1924T>A (p.Trp642Arg) c.2185T>A (p.Trp729Arg) c.2155T>A (p.Trp719Arg) c.1672T>A (p.Trp558Arg) c.1567T>A (p.Trp523Arg) | |
| 3 | g.122284109T>C | CA354158819 | CASR | c.1924T>C (p.Trp642Arg) c.2185T>C (p.Trp729Arg) c.2155T>C (p.Trp719Arg) c.1672T>C (p.Trp558Arg) c.1567T>C (p.Trp523Arg) | |
| 3 | g.122284109T>G | CA354158818 | CASR | c.1924T>G (p.Trp642Gly) c.2185T>G (p.Trp729Gly) c.2155T>G (p.Trp719Gly) c.1672T>G (p.Trp558Gly) c.1567T>G (p.Trp523Gly) | |
| 3 | g.122284110G>A | CA354158821 | CASR | c.1925G>A (p.Trp642Ter) c.2186G>A (p.Trp729Ter) c.2156G>A (p.Trp719Ter) c.1673G>A (p.Trp558Ter) c.1568G>A (p.Trp523Ter) | ClinVar dbSNP |
| 3 | g.122284110G>C | CA354158823 | CASR | c.1925G>C (p.Trp642Ser) c.2186G>C (p.Trp729Ser) c.2156G>C (p.Trp719Ser) c.1673G>C (p.Trp558Ser) c.1568G>C (p.Trp523Ser) | ClinVar |
| 3 | g.122284110G>T | CA354158825 | CASR | c.1925G>T (p.Trp642Leu) c.2186G>T (p.Trp729Leu) c.2156G>T (p.Trp719Leu) c.1673G>T (p.Trp558Leu) c.1568G>T (p.Trp523Leu) | gnomAD v4 |
| 3 | g.122284110_122284114dup | CA2586972866 | CASR | c.1925_1929dup (p.Leu644GlyfsTer22) c.2186_2190dup (p.Leu731GlyfsTer22) c.2156_2160dup (p.Leu721GlyfsTer22) c.1673_1677dup (p.Leu560GlyfsTer22) c.1568_1572dup (p.Leu525GlyfsTer22) | |
| 3 | g.122284111G>A | CA354158828 | CASR | c.1926G>A (p.Trp642Ter) c.2187G>A (p.Trp729Ter) c.2157G>A (p.Trp719Ter) c.1674G>A (p.Trp558Ter) c.1569G>A (p.Trp523Ter) | |
| 3 | g.122284111G>C | CA354158829 | CASR | c.1926G>C (p.Trp642Cys) c.2187G>C (p.Trp729Cys) c.2157G>C (p.Trp719Cys) c.1674G>C (p.Trp558Cys) c.1569G>C (p.Trp523Cys) | COSMIC |
| 3 | g.122284111G>T | CA354158830 | CASR | c.1926G>T (p.Trp642Cys) c.2187G>T (p.Trp729Cys) c.2157G>T (p.Trp719Cys) c.1674G>T (p.Trp558Cys) c.1569G>T (p.Trp523Cys) | |
| 3 | g.122284112G>A | CA354158831 | CASR | c.1927G>A (p.Gly643Arg) c.2188G>A (p.Gly730Arg) c.2158G>A (p.Gly720Arg) c.1675G>A (p.Gly559Arg) c.1570G>A (p.Gly524Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284112G>C | CA354158832 | CASR | c.1927G>C (p.Gly643Arg) c.2188G>C (p.Gly730Arg) c.2158G>C (p.Gly720Arg) c.1675G>C (p.Gly559Arg) c.1570G>C (p.Gly524Arg) | |
| 3 | g.122284112G= | CA1397871725 | CASR | c.1927G= (p.Gly643=) c.2188G= (p.Gly730=) c.2158G= (p.Gly720=) c.1675G= (p.Gly559=) c.1570G= (p.Gly524=) | |
| 3 | g.122284112G>T | CA354158833 | CASR | c.1927G>T (p.Gly643Trp) c.2188G>T (p.Gly730Trp) c.2158G>T (p.Gly720Trp) c.1675G>T (p.Gly559Trp) c.1570G>T (p.Gly524Trp) | gnomAD v4 |
| 3 | g.122284113G>A | CA354158835 | CASR | c.1928G>A (p.Gly643Glu) c.2189G>A (p.Gly730Glu) c.2159G>A (p.Gly720Glu) c.1676G>A (p.Gly559Glu) c.1571G>A (p.Gly524Glu) | ClinVar |
| 3 | g.122284113G>C | CA354158837 | CASR | c.1928G>C (p.Gly643Ala) c.2189G>C (p.Gly730Ala) c.2159G>C (p.Gly720Ala) c.1676G>C (p.Gly559Ala) c.1571G>C (p.Gly524Ala) | gnomAD v4 |
| 3 | g.122284113G>T | CA354158839 | CASR | c.1928G>T (p.Gly643Val) c.2189G>T (p.Gly730Val) c.2159G>T (p.Gly720Val) c.1676G>T (p.Gly559Val) c.1571G>T (p.Gly524Val) | |
| 3 | g.122284114G>A | CA435425221 | CASR | c.1929G>A (p.Gly643=) c.2190G>A (p.Gly730=) c.2160G>A (p.Gly720=) c.1677G>A (p.Gly559=) c.1572G>A (p.Gly524=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284114G>C | CA435425222 | CASR | c.1929G>C (p.Gly643=) c.2190G>C (p.Gly730=) c.2160G>C (p.Gly720=) c.1677G>C (p.Gly559=) c.1572G>C (p.Gly524=) | |
| 3 | g.122284114G= | CA1397871729 | CASR | c.1929G= (p.Gly643=) c.2190G= (p.Gly730=) c.2160G= (p.Gly720=) c.1677G= (p.Gly559=) c.1572G= (p.Gly524=) | |
| 3 | g.122284114G>T | CA435425223 | CASR | c.1929G>T (p.Gly643=) c.2190G>T (p.Gly730=) c.2160G>T (p.Gly720=) c.1677G>T (p.Gly559=) c.1572G>T (p.Gly524=) | |
| 3 | g.122284115C>A | CA354158841 | CASR | c.1930C>A (p.Leu644Ile) c.2191C>A (p.Leu731Ile) c.2161C>A (p.Leu721Ile) c.1678C>A (p.Leu560Ile) c.1573C>A (p.Leu525Ile) | gnomAD v4 |
| 3 | g.122284115C= | CA1397871732 | CASR | c.1930C= (p.Leu644=) c.2191C= (p.Leu731=) c.2161C= (p.Leu721=) c.1678C= (p.Leu560=) c.1573C= (p.Leu525=) | |
| 3 | g.122284115C>G | CA354158843 | CASR | c.1930C>G (p.Leu644Val) c.2191C>G (p.Leu731Val) c.2161C>G (p.Leu721Val) c.1678C>G (p.Leu560Val) c.1573C>G (p.Leu525Val) | ClinVar |
| 3 | g.122284115C>T | CA82748777 | CASR | c.1930C>T (p.Leu644Phe) c.2191C>T (p.Leu731Phe) c.2161C>T (p.Leu721Phe) c.1678C>T (p.Leu560Phe) c.1573C>T (p.Leu525Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284116T>A | CA354158845 | CASR | c.1931T>A (p.Leu644His) c.2192T>A (p.Leu731His) c.2162T>A (p.Leu721His) c.1679T>A (p.Leu560His) c.1574T>A (p.Leu525His) | |
| 3 | g.122284116T>C | CA354158847 | CASR | c.1931T>C (p.Leu644Pro) c.2192T>C (p.Leu731Pro) c.2162T>C (p.Leu721Pro) c.1679T>C (p.Leu560Pro) c.1574T>C (p.Leu525Pro) | |
| 3 | g.122284116T>G | CA354158849 | CASR | c.1931T>G (p.Leu644Arg) c.2192T>G (p.Leu731Arg) c.2162T>G (p.Leu721Arg) c.1679T>G (p.Leu560Arg) c.1574T>G (p.Leu525Arg) | |
| 3 | g.122284117C>A | CA435425235 | CASR | c.1932C>A (p.Leu644=) c.2193C>A (p.Leu731=) c.2163C>A (p.Leu721=) c.1680C>A (p.Leu560=) c.1575C>A (p.Leu525=) | |
| 3 | g.122284117C= | CA1397871737 | CASR | c.1932C= (p.Leu644=) c.2193C= (p.Leu731=) c.2163C= (p.Leu721=) c.1680C= (p.Leu560=) c.1575C= (p.Leu525=) | |
| 3 | g.122284117C>G | CA435425234 | CASR | c.1932C>G (p.Leu644=) c.2193C>G (p.Leu731=) c.2163C>G (p.Leu721=) c.1680C>G (p.Leu560=) c.1575C>G (p.Leu525=) | |
| 3 | g.122284117C>T | CA435425233 | CASR | c.1932C>T (p.Leu644=) c.2193C>T (p.Leu731=) c.2163C>T (p.Leu721=) c.1680C>T (p.Leu560=) c.1575C>T (p.Leu525=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284117_122284118delinsCA | CA1397871739 | CASR | c.1932_1933delinsCA (p.Leu644=) c.2193_2194delinsCA (p.Leu731=) c.2163_2164delinsCA (p.Leu721=) c.1680_1681delinsCA (p.Leu560=) c.1575_1576delinsCA (p.Leu525=) | |
| 3 | g.122284118A>C | CA354158850 | CASR | c.1933A>C (p.Asn645His) c.2194A>C (p.Asn732His) c.2164A>C (p.Asn722His) c.1681A>C (p.Asn561His) c.1576A>C (p.Asn526His) | |
| 3 | g.122284118A>G | CA354158852 | CASR | c.1933A>G (p.Asn645Asp) c.2194A>G (p.Asn732Asp) c.2164A>G (p.Asn722Asp) c.1681A>G (p.Asn561Asp) c.1576A>G (p.Asn526Asp) | |
| 3 | g.122284118A>T | CA354158854 | CASR | c.1933A>T (p.Asn645Tyr) c.2194A>T (p.Asn732Tyr) c.2164A>T (p.Asn722Tyr) c.1681A>T (p.Asn561Tyr) c.1576A>T (p.Asn526Tyr) | |
| 3 | g.122284119del | CA658822124 | CASR | c.1934del (p.Asn645ThrfsTer19) c.2195del (p.Asn732ThrfsTer19) c.2165del (p.Asn722ThrfsTer19) c.1682del (p.Asn561ThrfsTer19) c.1577del (p.Asn526ThrfsTer19) | ClinVar dbSNP |
| 3 | g.122284119A>C | CA354158856 | CASR | c.1934A>C (p.Asn645Thr) c.2195A>C (p.Asn732Thr) c.2165A>C (p.Asn722Thr) c.1682A>C (p.Asn561Thr) c.1577A>C (p.Asn526Thr) | |
| 3 | g.122284119A>G | CA354158858 | CASR | c.1934A>G (p.Asn645Ser) c.2195A>G (p.Asn732Ser) c.2165A>G (p.Asn722Ser) c.1682A>G (p.Asn561Ser) c.1577A>G (p.Asn526Ser) | |
| 3 | g.122284119A>T | CA354158860 | CASR | c.1934A>T (p.Asn645Ile) c.2195A>T (p.Asn732Ile) c.2165A>T (p.Asn722Ile) c.1682A>T (p.Asn561Ile) c.1577A>T (p.Asn526Ile) | |
| 3 | g.122284120C>A | CA354158861 | CASR | c.1935C>A (p.Asn645Lys) c.2196C>A (p.Asn732Lys) c.2166C>A (p.Asn722Lys) c.1683C>A (p.Asn561Lys) c.1578C>A (p.Asn526Lys) | gnomAD v4 |
| 3 | g.122284120C= | CA1397871745 | CASR | c.1935C= (p.Asn645=) c.2196C= (p.Asn732=) c.2166C= (p.Asn722=) c.1683C= (p.Asn561=) c.1578C= (p.Asn526=) | |
| 3 | g.122284120C>G | CA2569789 | CASR | c.1935C>G (p.Asn645Lys) c.2196C>G (p.Asn732Lys) c.2166C>G (p.Asn722Lys) c.1683C>G (p.Asn561Lys) c.1578C>G (p.Asn526Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284120C>T | CA435425241 | CASR | c.1935C>T (p.Asn645=) c.2196C>T (p.Asn732=) c.2166C>T (p.Asn722=) c.1683C>T (p.Asn561=) c.1578C>T (p.Asn526=) | ClinVar |
| 3 | g.122284121C>A | CA354158863 | CASR | c.1936C>A (p.Leu646Met) c.2197C>A (p.Leu733Met) c.2167C>A (p.Leu723Met) c.1684C>A (p.Leu562Met) c.1579C>A (p.Leu527Met) | ClinVar COSMIC |
| 3 | g.122284121C>G | CA354158865 | CASR | c.1936C>G (p.Leu646Val) c.2197C>G (p.Leu733Val) c.2167C>G (p.Leu723Val) c.1684C>G (p.Leu562Val) c.1579C>G (p.Leu527Val) | |
| 3 | g.122284121C>T | CA435425243 | CASR | c.1936C>T (p.Leu646=) c.2197C>T (p.Leu733=) c.2167C>T (p.Leu723=) c.1684C>T (p.Leu562=) c.1579C>T (p.Leu527=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284122T>A | CA354158870 | CASR | c.1937T>A (p.Leu646Gln) c.2198T>A (p.Leu733Gln) c.2168T>A (p.Leu723Gln) c.1685T>A (p.Leu562Gln) c.1580T>A (p.Leu527Gln) | |
| 3 | g.122284122T>C | CA354158867 | CASR | c.1937T>C (p.Leu646Pro) c.2198T>C (p.Leu733Pro) c.2168T>C (p.Leu723Pro) c.1685T>C (p.Leu562Pro) c.1580T>C (p.Leu527Pro) | |
| 3 | g.122284122T>G | CA354158868 | CASR | c.1937T>G (p.Leu646Arg) c.2198T>G (p.Leu733Arg) c.2168T>G (p.Leu723Arg) c.1685T>G (p.Leu562Arg) c.1580T>G (p.Leu527Arg) | ClinVar dbSNP |
| 3 | g.122284123G>A | CA435425244 | CASR | c.1938G>A (p.Leu646=) c.2199G>A (p.Leu733=) c.2169G>A (p.Leu723=) c.1686G>A (p.Leu562=) c.1581G>A (p.Leu527=) | |
| 3 | g.122284123G>C | CA435425248 | CASR | c.1938G>C (p.Leu646=) c.2199G>C (p.Leu733=) c.2169G>C (p.Leu723=) c.1686G>C (p.Leu562=) c.1581G>C (p.Leu527=) | |
| 3 | g.122284123G>T | CA435425246 | CASR | c.1938G>T (p.Leu646=) c.2199G>T (p.Leu733=) c.2169G>T (p.Leu723=) c.1686G>T (p.Leu562=) c.1581G>T (p.Leu527=) | |
| 3 | g.122284124C>A | CA354158872 | CASR | c.1939C>A (p.Gln647Lys) c.2200C>A (p.Gln734Lys) c.2170C>A (p.Gln724Lys) c.1687C>A (p.Gln563Lys) c.1582C>A (p.Gln528Lys) | dbSNP |
| 3 | g.122284124C= | CA1397871748 | CASR | c.1939C= (p.Gln647=) c.2200C= (p.Gln734=) c.2170C= (p.Gln724=) c.1687C= (p.Gln563=) c.1582C= (p.Gln528=) | |
| 3 | g.122284124C>G | CA354158875 | CASR | c.1939C>G (p.Gln647Glu) c.2200C>G (p.Gln734Glu) c.2170C>G (p.Gln724Glu) c.1687C>G (p.Gln563Glu) c.1582C>G (p.Gln528Glu) | |
| 3 | g.122284124C>T | CA354158877 | CASR | c.1939C>T (p.Gln647Ter) c.2200C>T (p.Gln734Ter) c.2170C>T (p.Gln724Ter) c.1687C>T (p.Gln563Ter) c.1582C>T (p.Gln528Ter) | |
| 3 | g.122284125del | CA2740454052 | CASR | c.1940del (p.Gln647ArgfsTer17) c.2201del (p.Gln734ArgfsTer17) c.2171del (p.Gln724ArgfsTer17) c.1688del (p.Gln563ArgfsTer17) c.1583del (p.Gln528ArgfsTer17) | |
| 3 | g.122284125A>C | CA354158879 | CASR | c.1940A>C (p.Gln647Pro) c.2201A>C (p.Gln734Pro) c.2171A>C (p.Gln724Pro) c.1688A>C (p.Gln563Pro) c.1583A>C (p.Gln528Pro) | |
| 3 | g.122284125A>G | CA354158881 | CASR | c.1940A>G (p.Gln647Arg) c.2201A>G (p.Gln734Arg) c.2171A>G (p.Gln724Arg) c.1688A>G (p.Gln563Arg) c.1583A>G (p.Gln528Arg) | |
| 3 | g.122284125A>T | CA354158883 | CASR | c.1940A>T (p.Gln647Leu) c.2201A>T (p.Gln734Leu) c.2171A>T (p.Gln724Leu) c.1688A>T (p.Gln563Leu) c.1583A>T (p.Gln528Leu) | |
| 3 | g.122284126G>A | CA435425250 | CASR | c.1941G>A (p.Gln647=) c.2202G>A (p.Gln734=) c.2172G>A (p.Gln724=) c.1689G>A (p.Gln563=) c.1584G>A (p.Gln528=) | |
| 3 | g.122284126G>C | CA354158885 | CASR | c.1941G>C (p.Gln647His) c.2202G>C (p.Gln734His) c.2172G>C (p.Gln724His) c.1689G>C (p.Gln563His) c.1584G>C (p.Gln528His) | |
| 3 | g.122284126G>T | CA354158887 | CASR | c.1941G>T (p.Gln647His) c.2202G>T (p.Gln734His) c.2172G>T (p.Gln724His) c.1689G>T (p.Gln563His) c.1584G>T (p.Gln528His) | |
| 3 | g.122284127T>A | CA354158888 | CASR | c.1942T>A (p.Phe648Ile) c.2203T>A (p.Phe735Ile) c.2173T>A (p.Phe725Ile) c.1690T>A (p.Phe564Ile) c.1585T>A (p.Phe529Ile) | |
| 3 | g.122284127T>C | CA354158889 | CASR | c.1942T>C (p.Phe648Leu) c.2203T>C (p.Phe735Leu) c.2173T>C (p.Phe725Leu) c.1690T>C (p.Phe564Leu) c.1585T>C (p.Phe529Leu) | |
| 3 | g.122284127T>G | CA354158891 | CASR | c.1942T>G (p.Phe648Val) c.2203T>G (p.Phe735Val) c.2173T>G (p.Phe725Val) c.1690T>G (p.Phe564Val) c.1585T>G (p.Phe529Val) | |
| 3 | g.122284128T>A | CA354158893 | CASR | c.1943T>A (p.Phe648Tyr) c.2204T>A (p.Phe735Tyr) c.2174T>A (p.Phe725Tyr) c.1691T>A (p.Phe564Tyr) c.1586T>A (p.Phe529Tyr) | |
| 3 | g.122284128T>C | CA354158897 | CASR | c.1943T>C (p.Phe648Ser) c.2204T>C (p.Phe735Ser) c.2174T>C (p.Phe725Ser) c.1691T>C (p.Phe564Ser) c.1586T>C (p.Phe529Ser) | |
| 3 | g.122284128T>G | CA354158895 | CASR | c.1943T>G (p.Phe648Cys) c.2204T>G (p.Phe735Cys) c.2174T>G (p.Phe725Cys) c.1691T>G (p.Phe564Cys) c.1586T>G (p.Phe529Cys) | |
| 3 | g.122284129C>A | CA354158898 | CASR | c.1944C>A (p.Phe648Leu) c.2205C>A (p.Phe735Leu) c.2175C>A (p.Phe725Leu) c.1692C>A (p.Phe564Leu) c.1587C>A (p.Phe529Leu) | |
| 3 | g.122284129C= | CA1397871751 | CASR | c.1944C= (p.Phe648=) c.2205C= (p.Phe735=) c.2175C= (p.Phe725=) c.1692C= (p.Phe564=) c.1587C= (p.Phe529=) | |
| 3 | g.122284129C>G | CA354158900 | CASR | c.1944C>G (p.Phe648Leu) c.2205C>G (p.Phe735Leu) c.2175C>G (p.Phe725Leu) c.1692C>G (p.Phe564Leu) c.1587C>G (p.Phe529Leu) | |
| 3 | g.122284129C>T | CA435425256 | CASR | c.1944C>T (p.Phe648=) c.2205C>T (p.Phe735=) c.2175C>T (p.Phe725=) c.1692C>T (p.Phe564=) c.1587C>T (p.Phe529=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284130C>A | CA354158902 | CASR | c.1945C>A (p.Leu649Met) c.2206C>A (p.Leu736Met) c.2176C>A (p.Leu726Met) c.1693C>A (p.Leu565Met) c.1588C>A (p.Leu530Met) | |
| 3 | g.122284130C>G | CA354158904 | CASR | c.1945C>G (p.Leu649Val) c.2206C>G (p.Leu736Val) c.2176C>G (p.Leu726Val) c.1693C>G (p.Leu565Val) c.1588C>G (p.Leu530Val) | |
| 3 | g.122284130C>T | CA435425257 | CASR | c.1945C>T (p.Leu649=) c.2206C>T (p.Leu736=) c.2176C>T (p.Leu726=) c.1693C>T (p.Leu565=) c.1588C>T (p.Leu530=) | |
| 3 | g.122284131T>A | CA354158906 | CASR | c.1946T>A (p.Leu649Gln) c.2207T>A (p.Leu736Gln) c.2177T>A (p.Leu726Gln) c.1694T>A (p.Leu565Gln) c.1589T>A (p.Leu530Gln) | |
| 3 | g.122284131T>C | CA354158908 | CASR | c.1946T>C (p.Leu649Pro) c.2207T>C (p.Leu736Pro) c.2177T>C (p.Leu726Pro) c.1694T>C (p.Leu565Pro) c.1589T>C (p.Leu530Pro) | |
| 3 | g.122284131T>G | CA354158909 | CASR | c.1946T>G (p.Leu649Arg) c.2207T>G (p.Leu736Arg) c.2177T>G (p.Leu726Arg) c.1694T>G (p.Leu565Arg) c.1589T>G (p.Leu530Arg) | |
| 3 | g.122284132G>A | CA435425264 | CASR | c.1947G>A (p.Leu649=) c.2208G>A (p.Leu736=) c.2178G>A (p.Leu726=) c.1695G>A (p.Leu565=) c.1590G>A (p.Leu530=) | gnomAD v4 COSMIC |
| 3 | g.122284132G>C | CA435425266 | CASR | c.1947G>C (p.Leu649=) c.2208G>C (p.Leu736=) c.2178G>C (p.Leu726=) c.1695G>C (p.Leu565=) c.1590G>C (p.Leu530=) | |
| 3 | g.122284132G>T | CA435425265 | CASR | c.1947G>T (p.Leu649=) c.2208G>T (p.Leu736=) c.2178G>T (p.Leu726=) c.1695G>T (p.Leu565=) c.1590G>T (p.Leu530=) | |
| 3 | g.122284133C>A | CA354158913 | CASR | c.1948C>A (p.Leu650Met) c.2209C>A (p.Leu737Met) c.2179C>A (p.Leu727Met) c.1696C>A (p.Leu566Met) c.1591C>A (p.Leu531Met) | |
| 3 | g.122284133C= | CA1397871755 | CASR | c.1948C= (p.Leu650=) c.2209C= (p.Leu737=) c.2179C= (p.Leu727=) c.1696C= (p.Leu566=) c.1591C= (p.Leu531=) | |
| 3 | g.122284133C>G | CA354158911 | CASR | c.1948C>G (p.Leu650Val) c.2209C>G (p.Leu737Val) c.2179C>G (p.Leu727Val) c.1696C>G (p.Leu566Val) c.1591C>G (p.Leu531Val) | |
| 3 | g.122284133C>T | CA435425267 | CASR | c.1948C>T (p.Leu650=) c.2209C>T (p.Leu737=) c.2179C>T (p.Leu727=) c.1696C>T (p.Leu566=) c.1591C>T (p.Leu531=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284134T>A | CA119541 | CASR | c.1949T>A (p.Leu650Gln) c.2210T>A (p.Leu737Gln) c.2180T>A (p.Leu727Gln) c.1697T>A (p.Leu566Gln) c.1592T>A (p.Leu531Gln) | ClinVar dbSNP |
| 3 | g.122284134T>C | CA354158915 | CASR | c.1949T>C (p.Leu650Pro) c.2210T>C (p.Leu737Pro) c.2180T>C (p.Leu727Pro) c.1697T>C (p.Leu566Pro) c.1592T>C (p.Leu531Pro) | |
| 3 | g.122284134T>G | CA354158917 | CASR | c.1949T>G (p.Leu650Arg) c.2210T>G (p.Leu737Arg) c.2180T>G (p.Leu727Arg) c.1697T>G (p.Leu566Arg) c.1592T>G (p.Leu531Arg) | |
| 3 | g.122284134T= | CA1397871757 | CASR | c.1949T= (p.Leu650=) c.2210T= (p.Leu737=) c.2180T= (p.Leu727=) c.1697T= (p.Leu566=) c.1592T= (p.Leu531=) |