Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.109264159A>CCA341501481CELSR2c.5083A>C (p.Asn1695His)
1g.109264159A>GCA341501478CELSR2c.5083A>G (p.Asn1695Asp)
1g.109264159A>TCA341501480CELSR2c.5083A>T (p.Asn1695Tyr)
1g.109264160A=CA1188034959CELSR2c.5084A= (p.Asn1695=)
1g.109264160A>CCA341501484CELSR2c.5084A>C (p.Asn1695Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.109264160A>GCA341501486CELSR2c.5084A>G (p.Asn1695Ser)
1g.109264160A>TCA341501487CELSR2c.5084A>T (p.Asn1695Ile)
1g.109264161T>ACA341501489CELSR2c.5085T>A (p.Asn1695Lys)
1g.109264161T>CCA419678107CELSR2c.5085T>C (p.Asn1695=)
1g.109264161T>GCA341501491CELSR2c.5085T>G (p.Asn1695Lys)
COSMIC
1g.109264162G>ACA341501497CELSR2c.5086G>A (p.Asp1696Asn)
1g.109264162G>CCA341501494CELSR2c.5086G>C (p.Asp1696His)
1g.109264162G>TCA341501495CELSR2c.5086G>T (p.Asp1696Tyr)
1g.109264163A>CCA341501499CELSR2c.5087A>C (p.Asp1696Ala)
1g.109264163A>GCA341501501CELSR2c.5087A>G (p.Asp1696Gly)
gnomAD v4
1g.109264163A>TCA341501503CELSR2c.5087A>T (p.Asp1696Val)
1g.109264164C>ACA341501505CELSR2c.5088C>A (p.Asp1696Glu)
1g.109264164C=CA1148404387CELSR2c.5088C= (p.Asp1696=)
1g.109264164C>GCA341501507CELSR2c.5088C>G (p.Asp1696Glu)
1g.109264164C>TCA987431CELSR2c.5088C>T (p.Asp1696=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264165G>ACA987432CELSR2c.5089G>A (p.Gly1697Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264165G>CCA341501510CELSR2c.5089G>C (p.Gly1697Arg)
1g.109264165G=CA1143680404CELSR2c.5089G= (p.Gly1697=)
1g.109264165G>TCA341501512CELSR2c.5089G>T (p.Gly1697Cys)
1g.109264166G>ACA341501514CELSR2c.5090G>A (p.Gly1697Asp)
1g.109264166G>CCA341501516CELSR2c.5090G>C (p.Gly1697Ala)
1g.109264166G>TCA341501519CELSR2c.5090G>T (p.Gly1697Val)
1g.109264167T>ACA419678117CELSR2c.5091T>A (p.Gly1697=)
1g.109264167T>CCA419678119CELSR2c.5091T>C (p.Gly1697=)
1g.109264167T>GCA419678120CELSR2c.5091T>G (p.Gly1697=)
gnomAD v4
1g.109264168G>ACA341501521CELSR2c.5092G>A (p.Asp1698Asn)
1g.109264168G>CCA341501525CELSR2c.5092G>C (p.Asp1698His)
1g.109264168G>TCA341501523CELSR2c.5092G>T (p.Asp1698Tyr)
1g.109264169A>CCA341501527CELSR2c.5093A>C (p.Asp1698Ala)
1g.109264169A>GCA341501529CELSR2c.5093A>G (p.Asp1698Gly)
1g.109264169A>TCA341501530CELSR2c.5093A>T (p.Asp1698Val)
1g.109264170C>ACA341501531CELSR2c.5094C>A (p.Asp1698Glu)
1g.109264170C>GCA341501532CELSR2c.5094C>G (p.Asp1698Glu)
1g.109264170C>TCA419678125CELSR2c.5094C>T (p.Asp1698=)
ClinVar
1g.109264171T>ACA341501534CELSR2c.5095T>A (p.Trp1699Arg)
1g.109264171T>CCA341501535CELSR2c.5095T>C (p.Trp1699Arg)
1g.109264171T>GCA341501536CELSR2c.5095T>G (p.Trp1699Gly)
1g.109264172G>ACA341501537CELSR2c.5096G>A (p.Trp1699Ter)
gnomAD v4
1g.109264172G>CCA341501538CELSR2c.5096G>C (p.Trp1699Ser)
1g.109264172G>TCA341501540CELSR2c.5096G>T (p.Trp1699Leu)
1g.109264173G>ACA341501543CELSR2c.5097G>A (p.Trp1699Ter)
gnomAD v4
1g.109264173G>CCA341501542CELSR2c.5097G>C (p.Trp1699Cys)
1g.109264173G>TCA341501541CELSR2c.5097G>T (p.Trp1699Cys)
1g.109264174C>ACA341501544CELSR2c.5098C>A (p.His1700Asn)
1g.109264174C>GCA341501545CELSR2c.5098C>G (p.His1700Asp)
1g.109264174C>TCA341501546CELSR2c.5098C>T (p.His1700Tyr)
1g.109264175A>CCA341501547CELSR2c.5099A>C (p.His1700Pro)
1g.109264175A>GCA341501548CELSR2c.5099A>G (p.His1700Arg)
1g.109264175A>TCA341501549CELSR2c.5099A>T (p.His1700Leu)
1g.109264176C>ACA341501550CELSR2c.5100C>A (p.His1700Gln)
gnomAD v4
1g.109264176C=CA1188034960CELSR2c.5100C= (p.His1700=)
1g.109264176C>GCA341501551CELSR2c.5100C>G (p.His1700Gln)
1g.109264176C>TCA987433CELSR2c.5100C>T (p.His1700=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.109264177C>ACA341501552CELSR2c.5101C>A (p.His1701Asn)
1g.109264177C>GCA341501553CELSR2c.5101C>G (p.His1701Asp)
1g.109264177C>TCA341501554CELSR2c.5101C>T (p.His1701Tyr)
1g.109264177_109264179delCA2646915998CELSR2c.5101_5103del (p.His1701del)
gnomAD v4
1g.109264178A=CA1146070461CELSR2c.5102A= (p.His1701=)
1g.109264178A>CCA341501556CELSR2c.5102A>C (p.His1701Pro)
1g.109264178A>GCA987434CELSR2c.5102A>G (p.His1701Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264178A>TCA341501555CELSR2c.5102A>T (p.His1701Leu)
1g.109264179T>ACA341501557CELSR2c.5103T>A (p.His1701Gln)
1g.109264179T>CCA419678140CELSR2c.5103T>C (p.His1701=)
dbSNP gnomAD v2
1g.109264179T>GCA341501558CELSR2c.5103T>G (p.His1701Gln)
gnomAD v4
1g.109264179T=CA1188034961CELSR2c.5103T= (p.His1701=)
1g.109264180G>ACA341501559CELSR2c.5104G>A (p.Ala1702Thr)
dbSNP gnomAD v4 COSMIC
1g.109264180G>CCA341501560CELSR2c.5104G>C (p.Ala1702Pro)
1g.109264180G=CA1188034962CELSR2c.5104G= (p.Ala1702=)
1g.109264180G>TCA341501561CELSR2c.5104G>T (p.Ala1702Ser)
1g.109264181C>ACA341501562CELSR2c.5105C>A (p.Ala1702Glu)
1g.109264181C>GCA341501563CELSR2c.5105C>G (p.Ala1702Gly)
1g.109264181C>TCA341501564CELSR2c.5105C>T (p.Ala1702Val)
1g.109264182A>CCA419678145CELSR2c.5106A>C (p.Ala1702=)
1g.109264182A>GCA419678147CELSR2c.5106A>G (p.Ala1702=)
1g.109264182A>TCA419678146CELSR2c.5106A>T (p.Ala1702=)
1g.109264183C>ACA341501565CELSR2c.5107C>A (p.Gln1703Lys)
1g.109264183C>GCA341501566CELSR2c.5107C>G (p.Gln1703Glu)
1g.109264183C>TCA341501567CELSR2c.5107C>T (p.Gln1703Ter)
1g.109264184A=CA1188034963CELSR2c.5108A= (p.Gln1703=)
1g.109264184A>CCA341501568CELSR2c.5108A>C (p.Gln1703Pro)
gnomAD v4
1g.109264184A>GCA341501569CELSR2c.5108A>G (p.Gln1703Arg)
dbSNP gnomAD v2 gnomAD v4
1g.109264184A>TCA341501570CELSR2c.5108A>T (p.Gln1703Leu)
1g.109264185G>ACA419678149CELSR2c.5109G>A (p.Gln1703=)
dbSNP gnomAD v2 gnomAD v4
1g.109264185G>CCA341501571CELSR2c.5109G>C (p.Gln1703His)
1g.109264185G=CA1188034964CELSR2c.5109G= (p.Gln1703=)
1g.109264185G>TCA341501572CELSR2c.5109G>T (p.Gln1703His)
1g.109264186C>ACA341501573CELSR2c.5110C>A (p.Leu1704Met)
1g.109264186C=CA1188034965CELSR2c.5110C= (p.Leu1704=)
1g.109264186C>GCA341501574CELSR2c.5110C>G (p.Leu1704Val)
1g.109264186C>TCA419678151CELSR2c.5110C>T (p.Leu1704=)
dbSNP gnomAD v3 gnomAD v4
1g.109264187T>ACA341501575CELSR2c.5111T>A (p.Leu1704Gln)
1g.109264187T>CCA341501576CELSR2c.5111T>C (p.Leu1704Pro)
1g.109264187T>GCA341501577CELSR2c.5111T>G (p.Leu1704Arg)
1g.109264188G>ACA419678153CELSR2c.5112G>A (p.Leu1704=)
1g.109264188G>CCA419678155CELSR2c.5112G>C (p.Leu1704=)
dbSNP
1g.109264188G=CA1188034966CELSR2c.5112G= (p.Leu1704=)
1g.109264188G>TCA419678156CELSR2c.5112G>T (p.Leu1704=)
1g.109264189G>ACA341501578CELSR2c.5113G>A (p.Ala1705Thr)
1g.109264189G>CCA341501579CELSR2c.5113G>C (p.Ala1705Pro)
1g.109264189G>TCA341501580CELSR2c.5113G>T (p.Ala1705Ser)
1g.109264190C>ACA341501581CELSR2c.5114C>A (p.Ala1705Glu)
1g.109264190C>GCA341501582CELSR2c.5114C>G (p.Ala1705Gly)
1g.109264190C>TCA341501583CELSR2c.5114C>T (p.Ala1705Val)
gnomAD v4
1g.109264191A=CA1188034967CELSR2c.5115A= (p.Ala1705=)
1g.109264191A>CCA419678158CELSR2c.5115A>C (p.Ala1705=)
dbSNP
1g.109264191A>GCA419678159CELSR2c.5115A>G (p.Ala1705=)
1g.109264191A>TCA419678161CELSR2c.5115A>T (p.Ala1705=)
1g.109264192C>ACA341501584CELSR2c.5116C>A (p.Leu1706Met)
1g.109264192C>GCA341501585CELSR2c.5116C>G (p.Leu1706Val)
1g.109264192C>TCA419678162CELSR2c.5116C>T (p.Leu1706=)
1g.109264193T>ACA341501587CELSR2c.5117T>A (p.Leu1706Gln)
1g.109264193T>CCA341501586CELSR2c.5117T>C (p.Leu1706Pro)
1g.109264193T>GCA28632325CELSR2c.5117T>G (p.Leu1706Arg)
dbSNP COSMIC
1g.109264193T=CA1188034968CELSR2c.5117T= (p.Leu1706=)
1g.109264194G>ACA419678166CELSR2c.5118G>A (p.Leu1706=)
gnomAD v4
1g.109264194G>CCA419678167CELSR2c.5118G>C (p.Leu1706=)
1g.109264194G>TCA419678168CELSR2c.5118G>T (p.Leu1706=)
1g.109264195G>ACA987435CELSR2c.5119G>A (p.Gly1707Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264195G>CCA341501588CELSR2c.5119G>C (p.Gly1707Arg)
1g.109264195G=CA1188034969CELSR2c.5119G= (p.Gly1707=)
1g.109264195G>TCA341501589CELSR2c.5119G>T (p.Gly1707Ter)
1g.109264196G>ACA341501590CELSR2c.5120G>A (p.Gly1707Glu)
COSMIC
1g.109264196G>CCA341501591CELSR2c.5120G>C (p.Gly1707Ala)
gnomAD v4
1g.109264196G>TCA341501592CELSR2c.5120G>T (p.Gly1707Val)
1g.109264197A>CCA419678170CELSR2c.5121A>C (p.Gly1707=)
1g.109264197A>GCA419678172CELSR2c.5121A>G (p.Gly1707=)
1g.109264197A>TCA419678174CELSR2c.5121A>T (p.Gly1707=)
1g.109264198G>ACA341501593CELSR2c.5122G>A (p.Ala1708Thr)
1g.109264198G>CCA341501594CELSR2c.5122G>C (p.Ala1708Pro)
1g.109264198G>TCA341501595CELSR2c.5122G>T (p.Ala1708Ser)
1g.109264199C>ACA341501596CELSR2c.5123C>A (p.Ala1708Asp)
1g.109264199C>GCA341501597CELSR2c.5123C>G (p.Ala1708Gly)
1g.109264199C>TCA341501598CELSR2c.5123C>T (p.Ala1708Val)
1g.109264200C>ACA419678177CELSR2c.5124C>A (p.Ala1708=)
gnomAD v4
1g.109264200C=CA1144141870CELSR2c.5124C= (p.Ala1708=)
1g.109264200C>GCA419678178CELSR2c.5124C>G (p.Ala1708=)
1g.109264200C>TCA987436CELSR2c.5124C>T (p.Ala1708=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264201A>CCA341501601CELSR2c.5125A>C (p.Ser1709Arg)
1g.109264201A>GCA341501599CELSR2c.5125A>G (p.Ser1709Gly)
1g.109264201A>TCA341501600CELSR2c.5125A>T (p.Ser1709Cys)
1g.109264202G>ACA341501602CELSR2c.5126G>A (p.Ser1709Asn)
1g.109264202G>CCA341501603CELSR2c.5126G>C (p.Ser1709Thr)
1g.109264202G>TCA341501604CELSR2c.5126G>T (p.Ser1709Ile)
1g.109264203C>ACA341501605CELSR2c.5127C>A (p.Ser1709Arg)
1g.109264203C=CA1188034970CELSR2c.5127C= (p.Ser1709=)
1g.109264203C>GCA341501606CELSR2c.5127C>G (p.Ser1709Arg)
1g.109264203C>TCA987438CELSR2c.5127C>T (p.Ser1709=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264204G>ACA28632332CELSR2c.5128G>A (p.Gly1710Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.109264204G>CCA341501607CELSR2c.5128G>C (p.Gly1710Arg)
1g.109264204G=CA1188034971CELSR2c.5128G= (p.Gly1710=)
1g.109264204G>TCA341501608CELSR2c.5128G>T (p.Gly1710Trp)
1g.109264209dupCA987437CELSR2c.5133dup (p.Pro1712AlafsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.109264208_109264209dupCA2744995018CELSR2c.5132_5133dup (p.Pro1712GlyfsTer29)
1g.109264209delCA2646916008CELSR2c.5133del (p.Gly1713AlafsTer27)
gnomAD v4
1g.109264205G>ACA341501609CELSR2c.5129G>A (p.Gly1710Glu)
dbSNP gnomAD v3 gnomAD v4
1g.109264205G>CCA341501610CELSR2c.5129G>C (p.Gly1710Ala)
1g.109264205G=CA1188034972CELSR2c.5129G= (p.Gly1710=)
1g.109264205G>TCA341501611CELSR2c.5129G>T (p.Gly1710Val)
1g.109264206G>ACA987439CELSR2c.5130G>A (p.Gly1710=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.109264206G>CCA419678183CELSR2c.5130G>C (p.Gly1710=)
1g.109264206G=CA1188034973CELSR2c.5130G= (p.Gly1710=)
1g.109264206G>TCA419678185CELSR2c.5130G>T (p.Gly1710=)
1g.109264207G>ACA341501612CELSR2c.5131G>A (p.Gly1711Arg)
gnomAD v4
1g.109264207G>CCA987440CELSR2c.5131G>C (p.Gly1711Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.109264207G=CA1188034974CELSR2c.5131G= (p.Gly1711=)
1g.109264207G>TCA341501613CELSR2c.5131G>T (p.Gly1711Trp)
COSMIC
1g.109264208G>ACA987441CELSR2c.5132G>A (p.Gly1711Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.109264208G>CCA341501615CELSR2c.5132G>C (p.Gly1711Ala)
1g.109264208G=CA1188034975CELSR2c.5132G= (p.Gly1711=)
1g.109264208G>TCA341501614CELSR2c.5132G>T (p.Gly1711Val)
1g.109264209G>ACA987443CELSR2c.5133G>A (p.Gly1711=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264209G>CCA419678188CELSR2c.5133G>C (p.Gly1711=)
1g.109264209G=CA1141680283CELSR2c.5133G= (p.Gly1711=)
1g.109264209G>TCA987442CELSR2c.5133G>T (p.Gly1711=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264210C>ACA341501616CELSR2c.5134C>A (p.Pro1712Thr)
dbSNP gnomAD v2 gnomAD v4
1g.109264210C=CA1188034976CELSR2c.5134C= (p.Pro1712=)
1g.109264210C>GCA341501617CELSR2c.5134C>G (p.Pro1712Ala)
1g.109264210C>TCA341501618CELSR2c.5134C>T (p.Pro1712Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.109264211C>ACA28632360CELSR2c.5135C>A (p.Pro1712His)
dbSNP
1g.109264211C=CA1188034977CELSR2c.5135C= (p.Pro1712=)
1g.109264211C>GCA341501619CELSR2c.5135C>G (p.Pro1712Arg)
gnomAD v4
1g.109264211C>TCA987444CELSR2c.5135C>T (p.Pro1712Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.109264212C>ACA419678190CELSR2c.5136C>A (p.Pro1712=)
dbSNP gnomAD v2 gnomAD v4
1g.109264212C=CA1140110162CELSR2c.5136C= (p.Pro1712=)
1g.109264212C>GCA419678191CELSR2c.5136C>G (p.Pro1712=)
1g.109264212C>TCA987445CELSR2c.5136C>T (p.Pro1712=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264213G>ACA987446CELSR2c.5137G>A (p.Gly1713Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.109264213G>CCA341501620CELSR2c.5137G>C (p.Gly1713Arg)
1g.109264213G=CA1188034978CELSR2c.5137G= (p.Gly1713=)
1g.109264213G>TCA341501621CELSR2c.5137G>T (p.Gly1713Cys)
1g.109264214G>ACA341501622CELSR2c.5138G>A (p.Gly1713Asp)
1g.109264214G>CCA341501623CELSR2c.5138G>C (p.Gly1713Ala)
1g.109264214G>TCA341501624CELSR2c.5138G>T (p.Gly1713Val)
1g.109264219_109264223delCA2646916017CELSR2c.5143_5147del (p.Ala1715SerfsTer?)
gnomAD v4
1g.109264215C>ACA419678194CELSR2c.5139C>A (p.Gly1713=)
gnomAD v4
1g.109264215C>GCA419678198CELSR2c.5139C>G (p.Gly1713=)
gnomAD v4
1g.109264215C>TCA419678196CELSR2c.5139C>T (p.Gly1713=)
gnomAD v4
1g.109264216C>ACA341501625CELSR2c.5140C>A (p.His1714Asn)
1g.109264216C=CA1188034979CELSR2c.5140C= (p.His1714=)
1g.109264216C>GCA341501626CELSR2c.5140C>G (p.His1714Asp)
1g.109264216C>TCA987447CELSR2c.5140C>T (p.His1714Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264217A=CA1188034980CELSR2c.5141A= (p.His1714=)
1g.109264217A>CCA341501627CELSR2c.5141A>C (p.His1714Pro)
1g.109264217A>GCA341501628CELSR2c.5141A>G (p.His1714Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.109264217A>TCA341501629CELSR2c.5141A>T (p.His1714Leu)
1g.109264218T>ACA341501630CELSR2c.5142T>A (p.His1714Gln)
1g.109264218T>CCA987448CELSR2c.5142T>C (p.His1714=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.109264218T>GCA341501631CELSR2c.5142T>G (p.His1714Gln)
1g.109264218T=CA1188034981CELSR2c.5142T= (p.His1714=)
1g.109264219G>ACA341501632CELSR2c.5143G>A (p.Ala1715Thr)
gnomAD v4
1g.109264219G>CCA341501633CELSR2c.5143G>C (p.Ala1715Pro)
1g.109264219G>TCA341501634CELSR2c.5143G>T (p.Ala1715Ser)
1g.109264220C>ACA341501637CELSR2c.5144C>A (p.Ala1715Asp)
gnomAD v4
1g.109264220C=CA1188034982CELSR2c.5144C= (p.Ala1715=)
1g.109264220C>GCA341501636CELSR2c.5144C>G (p.Ala1715Gly)
1g.109264220C>TCA341501635CELSR2c.5144C>T (p.Ala1715Val)
dbSNP gnomAD v2 gnomAD v4
1g.109264221C>ACA419678208CELSR2c.5145C>A (p.Ala1715=)
1g.109264221C>GCA419678209CELSR2c.5145C>G (p.Ala1715=)
1g.109264221C>TCA419678210CELSR2c.5145C>T (p.Ala1715=)
1g.109264222A=CA1188034983CELSR2c.5146A= (p.Ile1716=)
1g.109264222A>CCA341501638CELSR2c.5146A>C (p.Ile1716Leu)
1g.109264222A>GCA341501639CELSR2c.5146A>G (p.Ile1716Val)
dbSNP gnomAD v3 gnomAD v4
1g.109264222A>TCA341501640CELSR2c.5146A>T (p.Ile1716Phe)
1g.109264223T>ACA341501641CELSR2c.5147T>A (p.Ile1716Asn)
1g.109264223T>CCA341501642CELSR2c.5147T>C (p.Ile1716Thr)
1g.109264223T>GCA341501643CELSR2c.5147T>G (p.Ile1716Ser)
dbSNP
1g.109264223T=CA1188034984CELSR2c.5147T= (p.Ile1716=)
1g.109264224T>ACA419678217CELSR2c.5148T>A (p.Ile1716=)
1g.109264224T>CCA419678218CELSR2c.5148T>C (p.Ile1716=)
gnomAD v4
1g.109264224T>GCA341501644CELSR2c.5148T>G (p.Ile1716Met)
1g.109264225C>ACA341501645CELSR2c.5149C>A (p.Leu1717Met)
1g.109264225C>GCA341501646CELSR2c.5149C>G (p.Leu1717Val)
1g.109264225C>TCA419678220CELSR2c.5149C>T (p.Leu1717=)
dbSNP gnomAD v4
1g.109264226T>ACA341501647CELSR2c.5150T>A (p.Leu1717Gln)
1g.109264226T>CCA341501648CELSR2c.5150T>C (p.Leu1717Pro)
1g.109264226T>GCA341501649CELSR2c.5150T>G (p.Leu1717Arg)
gnomAD v4
1g.109264227G>ACA419678223CELSR2c.5151G>A (p.Leu1717=)
1g.109264227G>CCA987449CELSR2c.5151G>C (p.Leu1717=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.109264227G=CA1188034985CELSR2c.5151G= (p.Leu1717=)
1g.109264227G>TCA419678224CELSR2c.5151G>T (p.Leu1717=)
1g.109264228T>ACA341501650CELSR2c.5152T>A (p.Ser1718Thr)
1g.109264228T>CCA341501652CELSR2c.5152T>C (p.Ser1718Pro)
1g.109264228T>GCA341501651CELSR2c.5152T>G (p.Ser1718Ala)
1g.109264229C>ACA341501653CELSR2c.5153C>A (p.Ser1718Tyr)
1g.109264229C=CA1188034986CELSR2c.5153C= (p.Ser1718=)
1g.109264229C>GCA987450CELSR2c.5153C>G (p.Ser1718Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264229C>TCA341501654CELSR2c.5153C>T (p.Ser1718Phe)
dbSNP gnomAD v4
1g.109264230C>ACA419678234CELSR2c.5154C>A (p.Ser1718=)
1g.109264230C=CA1188034987CELSR2c.5154C= (p.Ser1718=)
1g.109264230C>GCA419678243CELSR2c.5154C>G (p.Ser1718=)
1g.109264230C>TCA419678244CELSR2c.5154C>T (p.Ser1718=)
dbSNP
1g.109264231T>ACA341501655CELSR2c.5155T>A (p.Phe1719Ile)
1g.109264231T>CCA341501656CELSR2c.5155T>C (p.Phe1719Leu)
1g.109264231T>GCA341501657CELSR2c.5155T>G (p.Phe1719Val)
1g.109264232T>ACA341501658CELSR2c.5156T>A (p.Phe1719Tyr)
1g.109264232T>CCA341501659CELSR2c.5156T>C (p.Phe1719Ser)
1g.109264232T>GCA341501660CELSR2c.5156T>G (p.Phe1719Cys)
1g.109264233C>ACA341501661CELSR2c.5157C>A (p.Phe1719Leu)
1g.109264233C=CA1188034988CELSR2c.5157C= (p.Phe1719=)
1g.109264233C>GCA341501662CELSR2c.5157C>G (p.Phe1719Leu)
COSMIC
1g.109264233C>TCA28632418CELSR2c.5157C>T (p.Phe1719=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.109264234G>ACA987451CELSR2c.5158G>A (p.Asp1720Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.109264234G>CCA341501664CELSR2c.5158G>C (p.Asp1720His)
1g.109264234G=CA1188034989CELSR2c.5158G= (p.Asp1720=)
1g.109264234G>TCA341501663CELSR2c.5158G>T (p.Asp1720Tyr)
1g.109264235A>CCA341501667CELSR2c.5159A>C (p.Asp1720Ala)
1g.109264235A>GCA341501665CELSR2c.5159A>G (p.Asp1720Gly)
1g.109264235A>TCA341501666CELSR2c.5159A>T (p.Asp1720Val)
1g.109264235_109264276dupCA2646916030CELSR2c.5159_5200dup (p.Arg1733_Leu1734insHisTyrGlyGlnGlnArgAlaGluGlyAsnLeuGlyProArg)
gnomAD v4
1g.109264236T>ACA341501668CELSR2c.5160T>A (p.Asp1720Glu)
1g.109264236T>CCA419678261CELSR2c.5160T>C (p.Asp1720=)
1g.109264236T>GCA341501669CELSR2c.5160T>G (p.Asp1720Glu)
1g.109264237T>ACA341501670CELSR2c.5161T>A (p.Tyr1721Asn)
1g.109264237T>CCA341501671CELSR2c.5161T>C (p.Tyr1721His)
1g.109264237T>GCA341501672CELSR2c.5161T>G (p.Tyr1721Asp)
gnomAD v4
1g.109264238A=CA1188034990CELSR2c.5162A= (p.Tyr1721=)
1g.109264238A>CCA341501673CELSR2c.5162A>C (p.Tyr1721Ser)
1g.109264238A>GCA341501674CELSR2c.5162A>G (p.Tyr1721Cys)
dbSNP gnomAD v2 gnomAD v4
1g.109264238A>TCA341501675CELSR2c.5162A>T (p.Tyr1721Phe)
1g.109264239T>ACA341501676CELSR2c.5163T>A (p.Tyr1721Ter)
1g.109264239T>CCA987452CELSR2c.5163T>C (p.Tyr1721=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.109264239T>GCA341501677CELSR2c.5163T>G (p.Tyr1721Ter)
1g.109264239T=CA1144968660CELSR2c.5163T= (p.Tyr1721=)
1g.109264240G>ACA341501678CELSR2c.5164G>A (p.Gly1722Arg)
gnomAD v4
1g.109264240G>CCA341501680CELSR2c.5164G>C (p.Gly1722Arg)
1g.109264240G>TCA341501679CELSR2c.5164G>T (p.Gly1722Trp)
1g.109264241G>ACA341501681CELSR2c.5165G>A (p.Gly1722Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.109264241G>CCA341501682CELSR2c.5165G>C (p.Gly1722Ala)
dbSNP gnomAD v2 gnomAD v4
1g.109264241G=CA1188034991CELSR2c.5165G= (p.Gly1722=)
1g.109264241G>TCA341501684CELSR2c.5165G>T (p.Gly1722Val)
1g.109264242G>ACA419678278CELSR2c.5166G>A (p.Gly1722=)
1g.109264242G>CCA419678282CELSR2c.5166G>C (p.Gly1722=)
1g.109264242G>TCA419678283CELSR2c.5166G>T (p.Gly1722=)
1g.109264243C>ACA341501685CELSR2c.5167C>A (p.Gln1723Lys)
1g.109264243C>GCA341501686CELSR2c.5167C>G (p.Gln1723Glu)
1g.109264243C>TCA341501687CELSR2c.5167C>T (p.Gln1723Ter)
1g.109264244A>CCA341501688CELSR2c.5168A>C (p.Gln1723Pro)
1g.109264244A>GCA341501689CELSR2c.5168A>G (p.Gln1723Arg)
1g.109264244A>TCA341501690CELSR2c.5168A>T (p.Gln1723Leu)
1g.109264245G>ACA419678287CELSR2c.5169G>A (p.Gln1723=)
1g.109264245G>CCA341501691CELSR2c.5169G>C (p.Gln1723His)
1g.109264245G>TCA341501692CELSR2c.5169G>T (p.Gln1723His)
1g.109264246C>ACA341501694CELSR2c.5170C>A (p.Gln1724Lys)
1g.109264246C>GCA341501695CELSR2c.5170C>G (p.Gln1724Glu)
1g.109264246C>TCA341501693CELSR2c.5170C>T (p.Gln1724Ter)
1g.109264247A>CCA341501696CELSR2c.5171A>C (p.Gln1724Pro)
1g.109264247A>GCA341501697CELSR2c.5171A>G (p.Gln1724Arg)
gnomAD v4
1g.109264247A>TCA341501698CELSR2c.5171A>T (p.Gln1724Leu)
1g.109264248G>ACA419678292CELSR2c.5172G>A (p.Gln1724=)
1g.109264248G>CCA341501699CELSR2c.5172G>C (p.Gln1724His)
dbSNP gnomAD v3 gnomAD v4
1g.109264248G=CA1188034992CELSR2c.5172G= (p.Gln1724=)
1g.109264248G>TCA341501700CELSR2c.5172G>T (p.Gln1724His)
1g.109264249A>CCA419678307CELSR2c.5173A>C (p.Arg1725=)
1g.109264249A>GCA341501701CELSR2c.5173A>G (p.Arg1725Gly)
1g.109264249A>TCA341501702CELSR2c.5173A>T (p.Arg1725Ter)
1g.109264250G>ACA341501703CELSR2c.5174G>A (p.Arg1725Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.109264250G>CCA341501704CELSR2c.5174G>C (p.Arg1725Thr)
1g.109264250G=CA1188034993CELSR2c.5174G= (p.Arg1725=)
1g.109264250G>TCA341501705CELSR2c.5174G>T (p.Arg1725Ile)
1g.109264251A>CCA341501706CELSR2c.5175A>C (p.Arg1725Ser)
1g.109264251A>GCA419678309CELSR2c.5175A>G (p.Arg1725=)
1g.109264251A>TCA341501707CELSR2c.5175A>T (p.Arg1725Ser)
1g.109264252G>ACA341501708CELSR2c.5176G>A (p.Ala1726Thr)
1g.109264252G>CCA341501709CELSR2c.5176G>C (p.Ala1726Pro)
1g.109264252G=CA1141725940CELSR2c.5176G= (p.Ala1726=)
1g.109264252G>TCA987453CELSR2c.5176G>T (p.Ala1726Ser)
dbSNP ExAC
1g.109264253C>ACA341501710CELSR2c.5177C>A (p.Ala1726Glu)
1g.109264253C>GCA341501711CELSR2c.5177C>G (p.Ala1726Gly)
1g.109264253C>TCA341501712CELSR2c.5177C>T (p.Ala1726Val)
1g.109264254A>CCA419678317CELSR2c.5178A>C (p.Ala1726=)
1g.109264254A>GCA419678321CELSR2c.5178A>G (p.Ala1726=)
1g.109264254A>TCA419678323CELSR2c.5178A>T (p.Ala1726=)
1g.109264255G>ACA341501713CELSR2c.5179G>A (p.Glu1727Lys)
1g.109264255G>CCA341501714CELSR2c.5179G>C (p.Glu1727Gln)
1g.109264255G=CA1188034994CELSR2c.5179G= (p.Glu1727=)
1g.109264255G>TCA987454CELSR2c.5179G>T (p.Glu1727Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.109264256A>CCA341501717CELSR2c.5180A>C (p.Glu1727Ala)
1g.109264256A>GCA341501715CELSR2c.5180A>G (p.Glu1727Gly)
1g.109264256A>TCA341501716CELSR2c.5180A>T (p.Glu1727Val)
1g.109264257G>ACA419678333CELSR2c.5181G>A (p.Glu1727=)
dbSNP
1g.109264257G>CCA341501718CELSR2c.5181G>C (p.Glu1727Asp)
1g.109264257G=CA1188034995CELSR2c.5181G= (p.Glu1727=)
1g.109264257G>TCA341501719CELSR2c.5181G>T (p.Glu1727Asp)
1g.109264258G>ACA341501720CELSR2c.5182G>A (p.Gly1728Ser)
dbSNP gnomAD v2 gnomAD v4
1g.109264258G>CCA341501721CELSR2c.5182G>C (p.Gly1728Arg)
1g.109264258G=CA1188034996CELSR2c.5182G= (p.Gly1728=)
1g.109264258G>TCA341501722CELSR2c.5182G>T (p.Gly1728Cys)
1g.109264259G>ACA341501725CELSR2c.5183G>A (p.Gly1728Asp)
1g.109264259G>CCA341501724CELSR2c.5183G>C (p.Gly1728Ala)
1g.109264259G>TCA341501723CELSR2c.5183G>T (p.Gly1728Val)

Number of alleles fetched