| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283961_122283963delinsCGG | CA1397871349 | CASR | c.1776_1778delinsCGG (p.Ile592=) c.2037_2039delinsCGG (p.Ile679=) c.2007_2009delinsCGG (p.Ile669=) c.1524_1526delinsCGG (p.Ile508=) c.1419_1421delinsCGG (p.Ile473=) | |
| 3 | g.122283965del | CA2667224149 | CASR | c.1780del (p.Glu594SerfsTer27) c.2041del (p.Glu681SerfsTer27) c.2011del (p.Glu671SerfsTer27) c.1528del (p.Glu510SerfsTer27) c.1423del (p.Glu475SerfsTer27) | gnomAD v4 |
| 3 | g.122283964_122283965del | CA1139658227 | CASR | c.1779_1780del (p.Glu594AlafsTer?) c.2040_2041del (p.Glu681AlafsTer?) c.2010_2011del (p.Glu671AlafsTer?) c.1527_1528del (p.Glu510AlafsTer?) c.1422_1423del (p.Glu475AlafsTer?) | ClinVar dbSNP |
| 3 | g.122283963G>A | CA119497 | CASR | c.1778G>A (p.Gly593Glu) c.2039G>A (p.Gly680Glu) c.2009G>A (p.Gly670Glu) c.1526G>A (p.Gly509Glu) c.1421G>A (p.Gly474Glu) | ClinVar dbSNP |
| 3 | g.122283963G>C | CA354158295 | CASR | c.1778G>C (p.Gly593Ala) c.2039G>C (p.Gly680Ala) c.2009G>C (p.Gly670Ala) c.1526G>C (p.Gly509Ala) c.1421G>C (p.Gly474Ala) | |
| 3 | g.122283963G= | CA1397871358 | CASR | c.1778G= (p.Gly593=) c.2039G= (p.Gly680=) c.2009G= (p.Gly670=) c.1526G= (p.Gly509=) c.1421G= (p.Gly474=) | |
| 3 | g.122283963G>T | CA354158296 | CASR | c.1778G>T (p.Gly593Val) c.2039G>T (p.Gly680Val) c.2009G>T (p.Gly670Val) c.1526G>T (p.Gly509Val) c.1421G>T (p.Gly474Val) | ClinVar dbSNP |
| 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.122283964G>A | CA435424931 | CASR | c.1779G>A (p.Gly593=) c.2040G>A (p.Gly680=) c.2010G>A (p.Gly670=) c.1527G>A (p.Gly509=) c.1422G>A (p.Gly474=) | ClinVar |
| 3 | g.122283964G>C | CA435424932 | CASR | c.1779G>C (p.Gly593=) c.2040G>C (p.Gly680=) c.2010G>C (p.Gly670=) c.1527G>C (p.Gly509=) c.1422G>C (p.Gly474=) | |
| 3 | g.122283964G>T | CA435424933 | CASR | c.1779G>T (p.Gly593=) c.2040G>T (p.Gly680=) c.2010G>T (p.Gly670=) c.1527G>T (p.Gly509=) c.1422G>T (p.Gly474=) | |
| 3 | g.122283965G>A | CA354158298 | CASR | c.1780G>A (p.Glu594Lys) c.2041G>A (p.Glu681Lys) c.2011G>A (p.Glu671Lys) c.1528G>A (p.Glu510Lys) c.1423G>A (p.Glu475Lys) | gnomAD v4 COSMIC |
| 3 | g.122283965G>C | CA354158299 | CASR | c.1780G>C (p.Glu594Gln) c.2041G>C (p.Glu681Gln) c.2011G>C (p.Glu671Gln) c.1528G>C (p.Glu510Gln) c.1423G>C (p.Glu475Gln) | |
| 3 | g.122283965G>T | CA354158297 | CASR | c.1780G>T (p.Glu594Ter) c.2041G>T (p.Glu681Ter) c.2011G>T (p.Glu671Ter) c.1528G>T (p.Glu510Ter) c.1423G>T (p.Glu475Ter) | gnomAD v4 |
| 3 | g.122283966A= | CA1397871362 | CASR | c.1781A= (p.Glu594=) c.2042A= (p.Glu681=) c.2012A= (p.Glu671=) c.1529A= (p.Glu510=) c.1424A= (p.Glu475=) | |
| 3 | g.122283966A>C | CA354158301 | CASR | c.1781A>C (p.Glu594Ala) c.2042A>C (p.Glu681Ala) c.2012A>C (p.Glu671Ala) c.1529A>C (p.Glu510Ala) c.1424A>C (p.Glu475Ala) | |
| 3 | g.122283966A>G | CA354158300 | CASR | c.1781A>G (p.Glu594Gly) c.2042A>G (p.Glu681Gly) c.2012A>G (p.Glu671Gly) c.1529A>G (p.Glu510Gly) c.1424A>G (p.Glu475Gly) | gnomAD v4 |
| 3 | g.122283966A>T | CA2569767 | CASR | c.1781A>T (p.Glu594Val) c.2042A>T (p.Glu681Val) c.2012A>T (p.Glu671Val) c.1529A>T (p.Glu510Val) c.1424A>T (p.Glu475Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283967G>A | CA435424940 | CASR | c.1782G>A (p.Glu594=) c.2043G>A (p.Glu681=) c.2013G>A (p.Glu671=) c.1530G>A (p.Glu510=) c.1425G>A (p.Glu475=) | |
| 3 | g.122283967G>C | CA354158302 | CASR | c.1782G>C (p.Glu594Asp) c.2043G>C (p.Glu681Asp) c.2013G>C (p.Glu671Asp) c.1530G>C (p.Glu510Asp) c.1425G>C (p.Glu475Asp) | |
| 3 | g.122283967G>T | CA354158303 | CASR | c.1782G>T (p.Glu594Asp) c.2043G>T (p.Glu681Asp) c.2013G>T (p.Glu671Asp) c.1530G>T (p.Glu510Asp) c.1425G>T (p.Glu475Asp) | |
| 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.122283968C>A | CA213577 | CASR | c.1783C>A (p.Pro595Thr) c.2044C>A (p.Pro682Thr) c.2014C>A (p.Pro672Thr) c.1531C>A (p.Pro511Thr) c.1426C>A (p.Pro476Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122283968C= | CA1397871368 | CASR | c.1783C= (p.Pro595=) c.2044C= (p.Pro682=) c.2014C= (p.Pro672=) c.1531C= (p.Pro511=) c.1426C= (p.Pro476=) | |
| 3 | g.122283968C>G | CA354158304 | CASR | c.1783C>G (p.Pro595Ala) c.2044C>G (p.Pro682Ala) c.2014C>G (p.Pro672Ala) c.1531C>G (p.Pro511Ala) c.1426C>G (p.Pro476Ala) | |
| 3 | g.122283968C>T | CA354158305 | CASR | c.1783C>T (p.Pro595Ser) c.2044C>T (p.Pro682Ser) c.2014C>T (p.Pro672Ser) c.1531C>T (p.Pro511Ser) c.1426C>T (p.Pro476Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283969C>A | CA354158306 | CASR | c.1784C>A (p.Pro595His) c.2045C>A (p.Pro682His) c.2015C>A (p.Pro672His) c.1532C>A (p.Pro511His) c.1427C>A (p.Pro476His) | |
| 3 | g.122283969C>G | CA354158308 | CASR | c.1784C>G (p.Pro595Arg) c.2045C>G (p.Pro682Arg) c.2015C>G (p.Pro672Arg) c.1532C>G (p.Pro511Arg) c.1427C>G (p.Pro476Arg) | ClinVar dbSNP |
| 3 | g.122283969C>T | CA354158307 | CASR | c.1784C>T (p.Pro595Leu) c.2045C>T (p.Pro682Leu) c.2015C>T (p.Pro672Leu) c.1532C>T (p.Pro511Leu) c.1427C>T (p.Pro476Leu) | ClinVar |
| 3 | g.122283970C>A | CA435424947 | CASR | c.1785C>A (p.Pro595=) c.2046C>A (p.Pro682=) c.2016C>A (p.Pro672=) c.1533C>A (p.Pro511=) c.1428C>A (p.Pro476=) | |
| 3 | g.122283970C= | CA1397871375 | CASR | c.1785C= (p.Pro595=) c.2046C= (p.Pro682=) c.2016C= (p.Pro672=) c.1533C= (p.Pro511=) c.1428C= (p.Pro476=) | |
| 3 | g.122283970C>G | CA2569768 | CASR | c.1785C>G (p.Pro595=) c.2046C>G (p.Pro682=) c.2016C>G (p.Pro672=) c.1533C>G (p.Pro511=) c.1428C>G (p.Pro476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283970C>T | CA435424948 | CASR | c.1785C>T (p.Pro595=) c.2046C>T (p.Pro682=) c.2016C>T (p.Pro672=) c.1533C>T (p.Pro511=) c.1428C>T (p.Pro476=) | |
| 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=) | |
| 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 |