Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121146029A=CA2004737636TBCEL-TECTA,TECTAc.4018A= (p.Thr1340=)
c.1325A=
n.583A=
c.4975A= (p.Thr1659=)
11g.121146029A>CCA383023006TBCEL-TECTA,TECTAc.4018A>C (p.Thr1340Pro)
c.1325A>C
n.583A>C
c.4975A>C (p.Thr1659Pro)
 dbSNP
11g.121146029A>GCA383023007TBCEL-TECTA,TECTAc.4018A>G (p.Thr1340Ala)
c.1325A>G
n.583A>G
c.4975A>G (p.Thr1659Ala)
11g.121146029A>TCA383023005TBCEL-TECTA,TECTAc.4018A>T (p.Thr1340Ser)
c.1325A>T
n.583A>T
c.4975A>T (p.Thr1659Ser)
11g.121146030C>ACA6327334TBCEL-TECTA,TECTAc.4019C>A (p.Thr1340Asn)
c.1326C>A
n.584C>A
c.4976C>A (p.Thr1659Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146030C=CA2004737637TBCEL-TECTA,TECTAc.4019C= (p.Thr1340=)
c.1326C=
n.584C=
c.4976C= (p.Thr1659=)
11g.121146030C>GCA383023008TBCEL-TECTA,TECTAc.4019C>G (p.Thr1340Ser)
c.1326C>G
n.584C>G
c.4976C>G (p.Thr1659Ser)
11g.121146030C>TCA383023009TBCEL-TECTA,TECTAc.4019C>T (p.Thr1340Ile)
c.1326C>T
n.584C>T
c.4976C>T (p.Thr1659Ile)
11g.121146031C>ACA477383166TBCEL-TECTA,TECTAc.4020C>A (p.Thr1340=)
c.1327C>A
n.585C>A
c.4977C>A (p.Thr1659=)
11g.121146031C=CA2004737638TBCEL-TECTA,TECTAc.4020C= (p.Thr1340=)
c.1327C=
n.585C=
c.4977C= (p.Thr1659=)
11g.121146031C>GCA477383164TBCEL-TECTA,TECTAc.4020C>G (p.Thr1340=)
c.1327C>G
n.585C>G
c.4977C>G (p.Thr1659=)
 gnomAD v4
11g.121146031C>TCA6327335TBCEL-TECTA,TECTAc.4020C>T (p.Thr1340=)
c.1327C>T
n.585C>T
c.4977C>T (p.Thr1659=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146032G>ACA6327336TBCEL-TECTA,TECTAc.4021G>A (p.Ala1341Thr)
c.1328G>A
n.586G>A
c.4978G>A (p.Ala1660Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121146032G>CCA383023010TBCEL-TECTA,TECTAc.4021G>C (p.Ala1341Pro)
c.1328G>C
n.586G>C
c.4978G>C (p.Ala1660Pro)
11g.121146032G=CA2004737639TBCEL-TECTA,TECTAc.4021G= (p.Ala1341=)
c.1328G=
n.586G=
c.4978G= (p.Ala1660=)
11g.121146032G>TCA6327337TBCEL-TECTA,TECTAc.4021G>T (p.Ala1341Ser)
c.1328G>T
n.586G>T
c.4978G>T (p.Ala1660Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146033C>ACA383023011TBCEL-TECTA,TECTAc.4022C>A (p.Ala1341Asp)
c.1329C>A
n.587C>A
c.4979C>A (p.Ala1660Asp)
11g.121146033C>GCA383023012TBCEL-TECTA,TECTAc.4022C>G (p.Ala1341Gly)
c.1329C>G
n.587C>G
c.4979C>G (p.Ala1660Gly)
11g.121146033C>TCA383023013TBCEL-TECTA,TECTAc.4022C>T (p.Ala1341Val)
c.1329C>T
n.587C>T
c.4979C>T (p.Ala1660Val)
11g.121146034C>ACA477383171TBCEL-TECTA,TECTAc.4023C>A (p.Ala1341=)
c.1330C>A
n.588C>A
c.4980C>A (p.Ala1660=)
11g.121146034C>GCA477383172TBCEL-TECTA,TECTAc.4023C>G (p.Ala1341=)
c.1330C>G
n.588C>G
c.4980C>G (p.Ala1660=)
11g.121146034C>TCA477383173TBCEL-TECTA,TECTAc.4023C>T (p.Ala1341=)
c.1330C>T
n.588C>T
c.4980C>T (p.Ala1660=)
11g.121146035T>ACA383023014TBCEL-TECTA,TECTAc.4024T>A (p.Cys1342Ser)
c.1331T>A
n.589T>A
c.4981T>A (p.Cys1661Ser)
 gnomAD v4
11g.121146035T>CCA383023015TBCEL-TECTA,TECTAc.4024T>C (p.Cys1342Arg)
c.1331T>C
n.589T>C
c.4981T>C (p.Cys1661Arg)
11g.121146035T>GCA383023016TBCEL-TECTA,TECTAc.4024T>G (p.Cys1342Gly)
c.1331T>G
n.589T>G
c.4981T>G (p.Cys1661Gly)
11g.121146036G>ACA383023019TBCEL-TECTA,TECTAc.4025G>A (p.Cys1342Tyr)
c.1332G>A
n.590G>A
c.4982G>A (p.Cys1661Tyr)
11g.121146036G>CCA383023018TBCEL-TECTA,TECTAc.4025G>C (p.Cys1342Ser)
c.1332G>C
n.590G>C
c.4982G>C (p.Cys1661Ser)
11g.121146036G>TCA383023017TBCEL-TECTA,TECTAc.4025G>T (p.Cys1342Phe)
c.1332G>T
n.590G>T
c.4982G>T (p.Cys1661Phe)
11g.121146037C>ACA383023020TBCEL-TECTA,TECTAc.4026C>A (p.Cys1342Ter)
c.1333C>A
n.591C>A
c.4983C>A (p.Cys1661Ter)
11g.121146037C>GCA383023021TBCEL-TECTA,TECTAc.4026C>G (p.Cys1342Trp)
c.1333C>G
n.591C>G
c.4983C>G (p.Cys1661Trp)
11g.121146037C>TCA477383180TBCEL-TECTA,TECTAc.4026C>T (p.Cys1342=)
c.1333C>T
n.591C>T
c.4983C>T (p.Cys1661=)
11g.121146038A>CCA383023022TBCEL-TECTA,TECTAc.4027A>C (p.Ser1343Arg)
c.1334A>C
n.592A>C
c.4984A>C (p.Ser1662Arg)
11g.121146038A>GCA383023023TBCEL-TECTA,TECTAc.4027A>G (p.Ser1343Gly)
c.1334A>G
n.592A>G
c.4984A>G (p.Ser1662Gly)
11g.121146038A>TCA383023024TBCEL-TECTA,TECTAc.4027A>T (p.Ser1343Cys)
c.1334A>T
n.592A>T
c.4984A>T (p.Ser1662Cys)
11g.121146039G>ACA383023025TBCEL-TECTA,TECTAc.4028G>A (p.Ser1343Asn)
c.1335G>A
n.593G>A
c.4985G>A (p.Ser1662Asn)
11g.121146039G>CCA383023026TBCEL-TECTA,TECTAc.4028G>C (p.Ser1343Thr)
c.1335G>C
n.593G>C
c.4985G>C (p.Ser1662Thr)
11g.121146039G>TCA383023027TBCEL-TECTA,TECTAc.4028G>T (p.Ser1343Ile)
c.1335G>T
n.593G>T
c.4985G>T (p.Ser1662Ile)
 gnomAD v4
11g.121146040C>ACA383023028TBCEL-TECTA,TECTAc.4029C>A (p.Ser1343Arg)
c.1336C>A
n.594C>A
c.4986C>A (p.Ser1662Arg)
11g.121146040C>GCA383023029TBCEL-TECTA,TECTAc.4029C>G (p.Ser1343Arg)
c.1336C>G
n.594C>G
c.4986C>G (p.Ser1662Arg)
11g.121146040C>TCA477383181TBCEL-TECTA,TECTAc.4029C>T (p.Ser1343=)
c.1336C>T
n.594C>T
c.4986C>T (p.Ser1662=)
 gnomAD v4
11g.121146041T>ACA383023030TBCEL-TECTA,TECTAc.4030T>A (p.Trp1344Arg)
c.1337T>A
n.595T>A
c.4987T>A (p.Trp1663Arg)
11g.121146041T>CCA383023031TBCEL-TECTA,TECTAc.4030T>C (p.Trp1344Arg)
c.1337T>C
n.595T>C
c.4987T>C (p.Trp1663Arg)
11g.121146041T>GCA383023032TBCEL-TECTA,TECTAc.4030T>G (p.Trp1344Gly)
c.1337T>G
n.595T>G
c.4987T>G (p.Trp1663Gly)
11g.121146042G>ACA383023035TBCEL-TECTA,TECTAc.4031G>A (p.Trp1344Ter)
c.1338G>A
n.596G>A
c.4988G>A (p.Trp1663Ter)
 gnomAD v4
11g.121146042G>CCA383023034TBCEL-TECTA,TECTAc.4031G>C (p.Trp1344Ser)
c.1338G>C
n.596G>C
c.4988G>C (p.Trp1663Ser)
11g.121146042G>TCA383023033TBCEL-TECTA,TECTAc.4031G>T (p.Trp1344Leu)
c.1338G>T
n.596G>T
c.4988G>T (p.Trp1663Leu)
11g.121146043G>ACA383023038TBCEL-TECTA,TECTAc.4032G>A (p.Trp1344Ter)
c.1339G>A
n.597G>A
c.4989G>A (p.Trp1663Ter)
11g.121146043G>CCA383023036TBCEL-TECTA,TECTAc.4032G>C (p.Trp1344Cys)
c.1339G>C
n.597G>C
c.4989G>C (p.Trp1663Cys)
11g.121146043G>TCA383023037TBCEL-TECTA,TECTAc.4032G>T (p.Trp1344Cys)
c.1339G>T
n.597G>T
c.4989G>T (p.Trp1663Cys)
 gnomAD v4
11g.121146044C>ACA383023039TBCEL-TECTA,TECTAc.4033C>A (p.Leu1345Met)
c.1340C>A
n.598C>A
c.4990C>A (p.Leu1664Met)
11g.121146044C>GCA383023040TBCEL-TECTA,TECTAc.4033C>G (p.Leu1345Val)
c.1340C>G
n.598C>G
c.4990C>G (p.Leu1664Val)
11g.121146044C>TCA477383185TBCEL-TECTA,TECTAc.4033C>T (p.Leu1345=)
c.1340C>T
n.598C>T
c.4990C>T (p.Leu1664=)
11g.121146045T>ACA383023041TBCEL-TECTA,TECTAc.4034T>A (p.Leu1345Gln)
c.1341T>A
n.599T>A
c.4991T>A (p.Leu1664Gln)
11g.121146045T>CCA383023042TBCEL-TECTA,TECTAc.4034T>C (p.Leu1345Pro)
c.1341T>C
n.599T>C
c.4991T>C (p.Leu1664Pro)
11g.121146045T>GCA383023043TBCEL-TECTA,TECTAc.4034T>G (p.Leu1345Arg)
c.1341T>G
n.599T>G
c.4991T>G (p.Leu1664Arg)
11g.121146046G>ACA477383188TBCEL-TECTA,TECTAc.4035G>A (p.Leu1345=)
c.1342G>A
n.600G>A
c.4992G>A (p.Leu1664=)
11g.121146046G>CCA477383189TBCEL-TECTA,TECTAc.4035G>C (p.Leu1345=)
c.1342G>C
n.600G>C
c.4992G>C (p.Leu1664=)
11g.121146046G>TCA477383190TBCEL-TECTA,TECTAc.4035G>T (p.Leu1345=)
c.1342G>T
n.600G>T
c.4992G>T (p.Leu1664=)
11g.121146047C>ACA383023044TBCEL-TECTA,TECTAc.4036C>A (p.Gln1346Lys)
c.1343C>A
n.601C>A
c.4993C>A (p.Gln1665Lys)
 gnomAD v4
11g.121146047C>GCA383023045TBCEL-TECTA,TECTAc.4036C>G (p.Gln1346Glu)
c.1343C>G
n.601C>G
c.4993C>G (p.Gln1665Glu)
11g.121146047C>TCA383023046TBCEL-TECTA,TECTAc.4036C>T (p.Gln1346Ter)
c.1343C>T
n.601C>T
c.4993C>T (p.Gln1665Ter)
11g.121146048A>CCA383023047TBCEL-TECTA,TECTAc.4037A>C (p.Gln1346Pro)
c.1344A>C
n.602A>C
c.4994A>C (p.Gln1665Pro)
11g.121146048A>GCA383023048TBCEL-TECTA,TECTAc.4037A>G (p.Gln1346Arg)
c.1344A>G
n.602A>G
c.4994A>G (p.Gln1665Arg)
11g.121146048A>TCA383023049TBCEL-TECTA,TECTAc.4037A>T (p.Gln1346Leu)
c.1344A>T
n.602A>T
c.4994A>T (p.Gln1665Leu)
11g.121146049G>ACA477383192TBCEL-TECTA,TECTAc.4038G>A (p.Gln1346=)
c.1345G>A
n.603G>A
c.4995G>A (p.Gln1665=)
11g.121146049G>CCA383023051TBCEL-TECTA,TECTAc.4038G>C (p.Gln1346His)
c.1345G>C
n.603G>C
c.4995G>C (p.Gln1665His)
11g.121146049G>TCA383023050TBCEL-TECTA,TECTAc.4038G>T (p.Gln1346His)
c.1345G>T
n.603G>T
c.4995G>T (p.Gln1665His)
11g.121146050A=CA2004737640TBCEL-TECTA,TECTAc.4039A= (p.Asn1347=)
c.1346A=
n.604A=
c.4996A= (p.Asn1666=)
11g.121146050A>CCA383023052TBCEL-TECTA,TECTAc.4039A>C (p.Asn1347His)
c.1346A>C
n.604A>C
c.4996A>C (p.Asn1666His)
11g.121146050A>GCA6327338TBCEL-TECTA,TECTAc.4039A>G (p.Asn1347Asp)
c.1346A>G
n.604A>G
c.4996A>G (p.Asn1666Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146050A>TCA383023053TBCEL-TECTA,TECTAc.4039A>T (p.Asn1347Tyr)
c.1346A>T
n.604A>T
c.4996A>T (p.Asn1666Tyr)
11g.121146051A>CCA383023054TBCEL-TECTA,TECTAc.4040A>C (p.Asn1347Thr)
c.1347A>C
n.605A>C
c.4997A>C (p.Asn1666Thr)
11g.121146051A>GCA383023055TBCEL-TECTA,TECTAc.4040A>G (p.Asn1347Ser)
c.1347A>G
n.605A>G
c.4997A>G (p.Asn1666Ser)
11g.121146051A>TCA383023056TBCEL-TECTA,TECTAc.4040A>T (p.Asn1347Ile)
c.1347A>T
n.605A>T
c.4997A>T (p.Asn1666Ile)
11g.121146052C>ACA383023057TBCEL-TECTA,TECTAc.4041C>A (p.Asn1347Lys)
c.1348C>A
n.606C>A
c.4998C>A (p.Asn1666Lys)
 dbSNP gnomAD v4
11g.121146052C=CA2004737641TBCEL-TECTA,TECTAc.4041C= (p.Asn1347=)
c.1348C=
n.606C=
c.4998C= (p.Asn1666=)
11g.121146052C>GCA383023058TBCEL-TECTA,TECTAc.4041C>G (p.Asn1347Lys)
c.1348C>G
n.606C>G
c.4998C>G (p.Asn1666Lys)
11g.121146052C>TCA477383197TBCEL-TECTA,TECTAc.4041C>T (p.Asn1347=)
c.1348C>T
n.606C>T
c.4998C>T (p.Asn1666=)
11g.121146053T>ACA383023059TBCEL-TECTA,TECTAc.4042T>A (p.Tyr1348Asn)
c.1349T>A
n.607T>A
c.4999T>A (p.Tyr1667Asn)
11g.121146053T>CCA383023060TBCEL-TECTA,TECTAc.4042T>C (p.Tyr1348His)
c.1349T>C
n.607T>C
c.4999T>C (p.Tyr1667His)
11g.121146053T>GCA383023061TBCEL-TECTA,TECTAc.4042T>G (p.Tyr1348Asp)
c.1349T>G
n.607T>G
c.4999T>G (p.Tyr1667Asp)
11g.121146054A>CCA383023062TBCEL-TECTA,TECTAc.4043A>C (p.Tyr1348Ser)
c.1350A>C
n.608A>C
c.5000A>C (p.Tyr1667Ser)
11g.121146054A>GCA383023063TBCEL-TECTA,TECTAc.4043A>G (p.Tyr1348Cys)
c.1350A>G
n.608A>G
c.5000A>G (p.Tyr1667Cys)
 gnomAD v4
11g.121146054A>TCA383023064TBCEL-TECTA,TECTAc.4043A>T (p.Tyr1348Phe)
c.1350A>T
n.608A>T
c.5000A>T (p.Tyr1667Phe)
11g.121146055C>ACA6327340TBCEL-TECTA,TECTAc.4044C>A (p.Tyr1348Ter)
c.1351C>A
n.609C>A
c.5001C>A (p.Tyr1667Ter)
 dbSNP ExAC gnomAD v2
11g.121146055C=CA2004737642TBCEL-TECTA,TECTAc.4044C= (p.Tyr1348=)
c.1351C=
n.609C=
c.5001C= (p.Tyr1667=)
11g.121146055C>GCA383023068TBCEL-TECTA,TECTAc.4044C>G (p.Tyr1348Ter)
c.1351C>G
n.609C>G
c.5001C>G (p.Tyr1667Ter)
11g.121146055C>TCA6327339TBCEL-TECTA,TECTAc.4044C>T (p.Tyr1348=)
c.1351C>T
n.609C>T
c.5001C>T (p.Tyr1667=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146056G>ACA6327341TBCEL-TECTA,TECTAc.4045G>A (p.Ala1349Thr)
c.1352G>A
n.610G>A
c.5002G>A (p.Ala1668Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121146056G>CCA383023070TBCEL-TECTA,TECTAc.4045G>C (p.Ala1349Pro)
c.1352G>C
n.610G>C
c.5002G>C (p.Ala1668Pro)
11g.121146056G=CA2004737643TBCEL-TECTA,TECTAc.4045G= (p.Ala1349=)
c.1352G=
n.610G=
c.5002G= (p.Ala1668=)
11g.121146056G>TCA383023072TBCEL-TECTA,TECTAc.4045G>T (p.Ala1349Ser)
c.1352G>T
n.610G>T
c.5002G>T (p.Ala1668Ser)
11g.121146057C>ACA383023074TBCEL-TECTA,TECTAc.4046C>A (p.Ala1349Asp)
c.1353C>A
n.611C>A
c.5003C>A (p.Ala1668Asp)
11g.121146057C=CA2004737644TBCEL-TECTA,TECTAc.4046C= (p.Ala1349=)
c.1353C=
n.611C=
c.5003C= (p.Ala1668=)
11g.121146057C>GCA383023076TBCEL-TECTA,TECTAc.4046C>G (p.Ala1349Gly)
c.1353C>G
n.611C>G
c.5003C>G (p.Ala1668Gly)
11g.121146057C>TCA383023078TBCEL-TECTA,TECTAc.4046C>T (p.Ala1349Val)
c.1353C>T
n.611C>T
c.5003C>T (p.Ala1668Val)
11g.121146058C>ACA477383204TBCEL-TECTA,TECTAc.4047C>A (p.Ala1349=)
c.1354C>A
n.612C>A
c.5004C>A (p.Ala1668=)
11g.121146058C=CA2004737645TBCEL-TECTA,TECTAc.4047C= (p.Ala1349=)
c.1354C=
n.612C=
c.5004C= (p.Ala1668=)
11g.121146058C>GCA477383206TBCEL-TECTA,TECTAc.4047C>G (p.Ala1349=)
c.1354C>G
n.612C>G
c.5004C>G (p.Ala1668=)
11g.121146058C>TCA6327342TBCEL-TECTA,TECTAc.4047C>T (p.Ala1349=)
c.1354C>T
n.612C>T
c.5004C>T (p.Ala1668=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146060_121146062dupCA602580271TBCEL-TECTA,TECTAc.4049_4051dup (p.Ser1350_Thr1351insSer)
c.1356_1358dup
n.614_616dup
c.5006_5008dup (p.Ser1669_Thr1670insSer)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121146059A>CCA383023085TBCEL-TECTA,TECTAc.4048A>C (p.Ser1350Arg)
c.1355A>C
n.613A>C
c.5005A>C (p.Ser1669Arg)
11g.121146059A>GCA383023081TBCEL-TECTA,TECTAc.4048A>G (p.Ser1350Gly)
c.1355A>G
n.613A>G
c.5005A>G (p.Ser1669Gly)
11g.121146059A>TCA383023082TBCEL-TECTA,TECTAc.4048A>T (p.Ser1350Cys)
c.1355A>T
n.613A>T
c.5005A>T (p.Ser1669Cys)
11g.121146060G>ACA383023087TBCEL-TECTA,TECTAc.4049G>A (p.Ser1350Asn)
c.1356G>A
n.614G>A
c.5006G>A (p.Ser1669Asn)
 gnomAD v4
11g.121146060G>CCA383023090TBCEL-TECTA,TECTAc.4049G>C (p.Ser1350Thr)
c.1356G>C
n.614G>C
c.5006G>C (p.Ser1669Thr)
11g.121146060G>TCA383023091TBCEL-TECTA,TECTAc.4049G>T (p.Ser1350Ile)
c.1356G>T
n.614G>T
c.5006G>T (p.Ser1669Ile)
11g.121146061C>ACA383023093TBCEL-TECTA,TECTAc.4050C>A (p.Ser1350Arg)
c.1357C>A
n.615C>A
c.5007C>A (p.Ser1669Arg)
11g.121146061C>GCA383023095TBCEL-TECTA,TECTAc.4050C>G (p.Ser1350Arg)
c.1357C>G
n.615C>G
c.5007C>G (p.Ser1669Arg)
11g.121146061C>TCA477383209TBCEL-TECTA,TECTAc.4050C>T (p.Ser1350=)
c.1357C>T
n.615C>T
c.5007C>T (p.Ser1669=)
11g.121146062A>CCA383023098TBCEL-TECTA,TECTAc.4051A>C (p.Thr1351Pro)
c.1358A>C
n.616A>C
c.5008A>C (p.Thr1670Pro)
11g.121146062A>GCA383023102TBCEL-TECTA,TECTAc.4051A>G (p.Thr1351Ala)
c.1358A>G
n.616A>G
c.5008A>G (p.Thr1670Ala)
11g.121146062A>TCA383023100TBCEL-TECTA,TECTAc.4051A>T (p.Thr1351Ser)
c.1358A>T
n.616A>T
c.5008A>T (p.Thr1670Ser)
11g.121146063C>ACA383023104TBCEL-TECTA,TECTAc.4052C>A (p.Thr1351Asn)
c.1359C>A
n.617C>A
c.5009C>A (p.Thr1670Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.121146063C=CA2004737646TBCEL-TECTA,TECTAc.4052C= (p.Thr1351=)
c.1359C=
n.617C=
c.5009C= (p.Thr1670=)
11g.121146063C>GCA383023106TBCEL-TECTA,TECTAc.4052C>G (p.Thr1351Ser)
c.1359C>G
n.617C>G
c.5009C>G (p.Thr1670Ser)
11g.121146063C>TCA383023108TBCEL-TECTA,TECTAc.4052C>T (p.Thr1351Ile)
c.1359C>T
n.617C>T
c.5009C>T (p.Thr1670Ile)
11g.121146064C>ACA477383216TBCEL-TECTA,TECTAc.4053C>A (p.Thr1351=)
c.1360C>A
n.618C>A
c.5010C>A (p.Thr1670=)
 gnomAD v4
11g.121146064C=CA2004737647TBCEL-TECTA,TECTAc.4053C= (p.Thr1351=)
c.1360C=
n.618C=
c.5010C= (p.Thr1670=)
11g.121146064C>GCA6327343TBCEL-TECTA,TECTAc.4053C>G (p.Thr1351=)
c.1360C>G
n.618C>G
c.5010C>G (p.Thr1670=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146064C>TCA477383214TBCEL-TECTA,TECTAc.4053C>T (p.Thr1351=)
c.1360C>T
n.618C>T
c.5010C>T (p.Thr1670=)
 dbSNP gnomAD v2
11g.121146065T>ACA383023110TBCEL-TECTA,TECTAc.4054T>A (p.Cys1352Ser)
c.1361T>A
n.619T>A
c.5011T>A (p.Cys1671Ser)
11g.121146065T>CCA383023111TBCEL-TECTA,TECTAc.4054T>C (p.Cys1352Arg)
c.1361T>C
n.619T>C
c.5011T>C (p.Cys1671Arg)
11g.121146065T>GCA383023112TBCEL-TECTA,TECTAc.4054T>G (p.Cys1352Gly)
c.1361T>G
n.619T>G
c.5011T>G (p.Cys1671Gly)
11g.121146066G>ACA6327344TBCEL-TECTA,TECTAc.4055G>A (p.Cys1352Tyr)
c.1362G>A
n.620G>A
c.5012G>A (p.Cys1671Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146066G>CCA383023115TBCEL-TECTA,TECTAc.4055G>C (p.Cys1352Ser)
c.1362G>C
n.620G>C
c.5012G>C (p.Cys1671Ser)
11g.121146066G=CA2004737648TBCEL-TECTA,TECTAc.4055G= (p.Cys1352=)
c.1362G=
n.620G=
c.5012G= (p.Cys1671=)
11g.121146066G>TCA383023116TBCEL-TECTA,TECTAc.4055G>T (p.Cys1352Phe)
c.1362G>T
n.620G>T
c.5012G>T (p.Cys1671Phe)
11g.121146067C>ACA383023119TBCEL-TECTA,TECTAc.4056C>A (p.Cys1352Ter)
c.1363C>A
n.621C>A
c.5013C>A (p.Cys1671Ter)
11g.121146067C>GCA383023120TBCEL-TECTA,TECTAc.4056C>G (p.Cys1352Trp)
c.1363C>G
n.621C>G
c.5013C>G (p.Cys1671Trp)
11g.121146067C>TCA477383219TBCEL-TECTA,TECTAc.4056C>T (p.Cys1352=)
c.1363C>T
n.621C>T
c.5013C>T (p.Cys1671=)
11g.121146068C>ACA383023122TBCEL-TECTA,TECTAc.4057C>A (p.Gln1353Lys)
c.1364C>A
n.622C>A
c.5014C>A (p.Gln1672Lys)
11g.121146068C=CA2004737649TBCEL-TECTA,TECTAc.4057C= (p.Gln1353=)
c.1364C=
n.622C=
c.5014C= (p.Gln1672=)
11g.121146068C>GCA383023126TBCEL-TECTA,TECTAc.4057C>G (p.Gln1353Glu)
c.1364C>G
n.622C>G
c.5014C>G (p.Gln1672Glu)
 dbSNP gnomAD v3 gnomAD v4
11g.121146068C>TCA383023124TBCEL-TECTA,TECTAc.4057C>T (p.Gln1353Ter)
c.1364C>T
n.622C>T
c.5014C>T (p.Gln1672Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.121146069A>CCA383023128TBCEL-TECTA,TECTAc.4058A>C (p.Gln1353Pro)
c.1365A>C
n.623A>C
c.5015A>C (p.Gln1672Pro)
 gnomAD v4
11g.121146069A>GCA383023130TBCEL-TECTA,TECTAc.4058A>G (p.Gln1353Arg)
c.1365A>G
n.623A>G
c.5015A>G (p.Gln1672Arg)
11g.121146069A>TCA383023132TBCEL-TECTA,TECTAc.4058A>T (p.Gln1353Leu)
c.1365A>T
n.623A>T
c.5015A>T (p.Gln1672Leu)
11g.121146070G>ACA477383221TBCEL-TECTA,TECTAc.4059G>A (p.Gln1353=)
c.1366G>A
n.624G>A
c.5016G>A (p.Gln1672=)
11g.121146070G>CCA383023134TBCEL-TECTA,TECTAc.4059G>C (p.Gln1353His)
c.1366G>C
n.624G>C
c.5016G>C (p.Gln1672His)
11g.121146070G>TCA383023136TBCEL-TECTA,TECTAc.4059G>T (p.Gln1353His)
c.1366G>T
n.624G>T
c.5016G>T (p.Gln1672His)
11g.121146071A>CCA383023138TBCEL-TECTA,TECTAc.4060A>C (p.Thr1354Pro)
c.1367A>C
n.625A>C
c.5017A>C (p.Thr1673Pro)
 ClinVar dbSNP gnomAD v4
11g.121146071A>GCA383023139TBCEL-TECTA,TECTAc.4060A>G (p.Thr1354Ala)
c.1367A>G
n.625A>G
c.5017A>G (p.Thr1673Ala)
 gnomAD v4
11g.121146071A>TCA383023141TBCEL-TECTA,TECTAc.4060A>T (p.Thr1354Ser)
c.1367A>T
n.625A>T
c.5017A>T (p.Thr1673Ser)
11g.121146072C>ACA383023144TBCEL-TECTA,TECTAc.4061C>A (p.Thr1354Asn)
c.1368C>A
n.626C>A
c.5018C>A (p.Thr1673Asn)
11g.121146072C=CA2004737650TBCEL-TECTA,TECTAc.4061C= (p.Thr1354=)
c.1368C=
n.626C=
c.5018C= (p.Thr1673=)
11g.121146072C>GCA10630126TBCEL-TECTA,TECTAc.4061C>G (p.Thr1354Ser)
c.1368C>G
n.626C>G
c.5018C>G (p.Thr1673Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.121146072C>TCA6327345TBCEL-TECTA,TECTAc.4061C>T (p.Thr1354Ile)
c.1368C>T
n.626C>T
c.5018C>T (p.Thr1673Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146073T>ACA477383225TBCEL-TECTA,TECTAc.4062T>A (p.Thr1354=)
c.1369T>A
n.627T>A
c.5019T>A (p.Thr1673=)
11g.121146073T>CCA477383226TBCEL-TECTA,TECTAc.4062T>C (p.Thr1354=)
c.1369T>C
n.627T>C
c.5019T>C (p.Thr1673=)
 gnomAD v4
11g.121146073T>GCA477383228TBCEL-TECTA,TECTAc.4062T>G (p.Thr1354=)
c.1369T>G
n.627T>G
c.5019T>G (p.Thr1673=)
11g.121146074C>ACA383023150TBCEL-TECTA,TECTAc.4063C>A (p.Gln1355Lys)
c.1370C>A
n.628C>A
c.5020C>A (p.Gln1674Lys)
11g.121146074C>GCA383023148TBCEL-TECTA,TECTAc.4063C>G (p.Gln1355Glu)
c.1370C>G
n.628C>G
c.5020C>G (p.Gln1674Glu)
11g.121146074C>TCA383023147TBCEL-TECTA,TECTAc.4063C>T (p.Gln1355Ter)
c.1370C>T
n.628C>T
c.5020C>T (p.Gln1674Ter)
11g.121146074_121146076delinsCAGCA2004737651TBCEL-TECTA,TECTAc.4063_4065delinsCAG (p.Gln1355=)
c.1370_1372delinsCAG
n.628_630delinsCAG
c.5020_5022delinsCAG (p.Gln1674=)
11g.121146075A>CCA383023152TBCEL-TECTA,TECTAc.4064A>C (p.Gln1355Pro)
c.1371A>C
n.629A>C
c.5021A>C (p.Gln1674Pro)
11g.121146075A>GCA383023155TBCEL-TECTA,TECTAc.4064A>G (p.Gln1355Arg)
c.1371A>G
n.629A>G
c.5021A>G (p.Gln1674Arg)
11g.121146075A>TCA383023157TBCEL-TECTA,TECTAc.4064A>T (p.Gln1355Leu)
c.1371A>T
n.629A>T
c.5021A>T (p.Gln1674Leu)
11g.121146075_121146076delCA6327346TBCEL-TECTA,TECTAc.4064_4065del (p.Gln1355ArgfsTer?)
c.1371_1372del
n.629_630del
c.5021_5022del (p.Gln1674ArgfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146076G>ACA477383233TBCEL-TECTA,TECTAc.4065G>A (p.Gln1355=)
c.1372G>A
n.1G>A
n.630G>A
c.5022G>A (p.Gln1674=)
11g.121146076G>CCA383023164TBCEL-TECTA,TECTAc.4065G>C (p.Gln1355His)
c.1372G>C
n.1G>C
n.630G>C
c.5022G>C (p.Gln1674His)
11g.121146076G>TCA383023166TBCEL-TECTA,TECTAc.4065G>T (p.Gln1355His)
c.1372G>T
n.1G>T
n.630G>T
c.5022G>T (p.Gln1674His)
11g.121146077G>ACA383023168TBCEL-TECTA,TECTAc.4066G>A (p.Gly1356Arg)
c.1373G>A
n.2G>A
n.631G>A
c.5023G>A (p.Gly1675Arg)
 gnomAD v4
11g.121146077G>CCA383023169TBCEL-TECTA,TECTAc.4066G>C (p.Gly1356Arg)
c.1373G>C
n.2G>C
n.631G>C
c.5023G>C (p.Gly1675Arg)
11g.121146077G>TCA383023171TBCEL-TECTA,TECTAc.4066G>T (p.Gly1356Trp)
c.1373G>T
n.2G>T
n.631G>T
c.5023G>T (p.Gly1675Trp)
11g.121146078G>ACA178100TBCEL-TECTA,TECTAc.4067G>A (p.Gly1356Glu)
c.1374G>A
n.3G>A
n.632G>A
c.5024G>A (p.Gly1675Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146078G>CCA383023174TBCEL-TECTA,TECTAc.4067G>C (p.Gly1356Ala)
c.1374G>C
n.3G>C
n.632G>C
c.5024G>C (p.Gly1675Ala)
11g.121146078G=CA2004737652TBCEL-TECTA,TECTAc.4067G= (p.Gly1356=)
c.1374G=
n.3G=
n.632G=
c.5024G= (p.Gly1675=)
11g.121146078G>TCA383023176TBCEL-TECTA,TECTAc.4067G>T (p.Gly1356Val)
c.1374G>T
n.3G>T
n.632G>T
c.5024G>T (p.Gly1675Val)
 gnomAD v4
11g.121146079G>ACA477383241TBCEL-TECTA,TECTAc.4068G>A (p.Gly1356=)
c.1375G>A
n.4G>A
n.633G>A
c.5025G>A (p.Gly1675=)
11g.121146079G>CCA477383242TBCEL-TECTA,TECTAc.4068G>C (p.Gly1356=)
c.1375G>C
n.4G>C
n.633G>C
c.5025G>C (p.Gly1675=)
11g.121146079G=CA2004737653TBCEL-TECTA,TECTAc.4068G= (p.Gly1356=)
c.1375G=
n.4G=
n.633G=
c.5025G= (p.Gly1675=)
11g.121146079G>TCA477383243TBCEL-TECTA,TECTAc.4068G>T (p.Gly1356=)
c.1375G>T
n.4G>T
n.633G>T
c.5025G>T (p.Gly1675=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121146080A>CCA383023183TBCEL-TECTA,TECTAc.4069A>C (p.Ile1357Leu)
c.1376A>C
n.5A>C
n.634A>C
c.5026A>C (p.Ile1676Leu)
11g.121146080A>GCA383023178TBCEL-TECTA,TECTAc.4069A>G (p.Ile1357Val)
c.1376A>G
n.5A>G
n.634A>G
c.5026A>G (p.Ile1676Val)
11g.121146080A>TCA383023182TBCEL-TECTA,TECTAc.4069A>T (p.Ile1357Phe)
c.1376A>T
n.5A>T
n.634A>T
c.5026A>T (p.Ile1676Phe)
11g.121146081T>ACA383023187TBCEL-TECTA,TECTAc.4070T>A (p.Ile1357Asn)
c.1377T>A
n.6T>A
n.635T>A
c.5027T>A (p.Ile1676Asn)
11g.121146081T>CCA383023191TBCEL-TECTA,TECTAc.4070T>C (p.Ile1357Thr)
c.1377T>C
n.6T>C
n.635T>C
c.5027T>C (p.Ile1676Thr)
11g.121146081T>GCA383023190TBCEL-TECTA,TECTAc.4070T>G (p.Ile1357Ser)
c.1377T>G
n.6T>G
n.635T>G
c.5027T>G (p.Ile1676Ser)
11g.121146082T>ACA477383245TBCEL-TECTA,TECTAc.4071T>A (p.Ile1357=)
c.1378T>A
n.7T>A
n.636T>A
c.5028T>A (p.Ile1676=)
11g.121146082T>CCA477383247TBCEL-TECTA,TECTAc.4071T>C (p.Ile1357=)
c.1378T>C
n.7T>C
n.636T>C
c.5028T>C (p.Ile1676=)
11g.121146082T>GCA383023193TBCEL-TECTA,TECTAc.4071T>G (p.Ile1357Met)
c.1378T>G
n.7T>G
n.636T>G
c.5028T>G (p.Ile1676Met)
11g.121146082_121146085dupCA2616488613TBCEL-TECTA,TECTAc.4071_4074dup (p.Val1359TyrfsTer?)
c.1378_1381dup
n.7_10dup
n.636_639dup
c.5028_5031dup (p.Val1678TyrfsTer?)
 gnomAD v4
11g.121146083A=CA2004737654TBCEL-TECTA,TECTAc.4072A= (p.Thr1358=)
c.1379A=
n.8A=
n.637A=
c.5029A= (p.Thr1677=)
11g.121146083A>CCA383023200TBCEL-TECTA,TECTAc.4072A>C (p.Thr1358Pro)
c.1379A>C
n.8A>C
n.637A>C
c.5029A>C (p.Thr1677Pro)
11g.121146083A>GCA6327347TBCEL-TECTA,TECTAc.4072A>G (p.Thr1358Ala)
c.1379A>G
n.8A>G
n.637A>G
c.5029A>G (p.Thr1677Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146083A>TCA383023202TBCEL-TECTA,TECTAc.4072A>T (p.Thr1358Ser)
c.1379A>T
n.8A>T
n.637A>T
c.5029A>T (p.Thr1677Ser)
 gnomAD v4
11g.121146084C>ACA383023204TBCEL-TECTA,TECTAc.4073C>A (p.Thr1358Lys)
c.1380C>A
n.9C>A
n.638C>A
c.5030C>A (p.Thr1677Lys)
11g.121146084C=CA2004737655TBCEL-TECTA,TECTAc.4073C= (p.Thr1358=)
c.1380C=
n.9C=
n.638C=
c.5030C= (p.Thr1677=)
11g.121146084C>GCA383023207TBCEL-TECTA,TECTAc.4073C>G (p.Thr1358Arg)
c.1380C>G
n.9C>G
n.638C>G
c.5030C>G (p.Thr1677Arg)
11g.121146084C>TCA6327348TBCEL-TECTA,TECTAc.4073C>T (p.Thr1358Met)
c.1380C>T
n.9C>T
n.638C>T
c.5030C>T (p.Thr1677Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146085G>ACA136046TBCEL-TECTA,TECTAc.4074G>A (p.Thr1358=)
c.1381G>A
n.10G>A
n.639G>A
c.5031G>A (p.Thr1677=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146085G>CCA477383254TBCEL-TECTA,TECTAc.4074G>C (p.Thr1358=)
c.1381G>C
n.10G>C
n.639G>C
c.5031G>C (p.Thr1677=)
11g.121146085G=CA2004737656TBCEL-TECTA,TECTAc.4074G= (p.Thr1358=)
c.1381G=
n.10G=
n.639G=
c.5031G= (p.Thr1677=)
11g.121146085G>TCA477383251TBCEL-TECTA,TECTAc.4074G>T (p.Thr1358=)
c.1381G>T
n.10G>T
n.639G>T
c.5031G>T (p.Thr1677=)
 gnomAD v4
11g.121146086G>ACA383023211TBCEL-TECTA,TECTAc.4075G>A (p.Val1359Met)
c.1382G>A
n.11G>A
n.640G>A
c.5032G>A (p.Val1678Met)
11g.121146086G>CCA383023212TBCEL-TECTA,TECTAc.4075G>C (p.Val1359Leu)
c.1382G>C
n.11G>C
n.640G>C
c.5032G>C (p.Val1678Leu)
11g.121146086G>TCA383023214TBCEL-TECTA,TECTAc.4075G>T (p.Val1359Leu)
c.1382G>T
n.11G>T
n.640G>T
c.5032G>T (p.Val1678Leu)
 ClinVar dbSNP
11g.121146087T>ACA383023216TBCEL-TECTA,TECTAc.4076T>A (p.Val1359Glu)
c.1383T>A
n.12T>A
n.641T>A
c.5033T>A (p.Val1678Glu)
11g.121146087T>CCA383023217TBCEL-TECTA,TECTAc.4076T>C (p.Val1359Ala)
c.1383T>C
n.12T>C
n.641T>C
c.5033T>C (p.Val1678Ala)
11g.121146087T>GCA383023219TBCEL-TECTA,TECTAc.4076T>G (p.Val1359Gly)
c.1383T>G
n.12T>G
n.641T>G
c.5033T>G (p.Val1678Gly)
11g.121146088G>ACA477383257TBCEL-TECTA,TECTAc.4077G>A (p.Val1359=)
c.1384G>A
n.13G>A
n.642G>A
c.5034G>A (p.Val1678=)
11g.121146088G>CCA477383259TBCEL-TECTA,TECTAc.4077G>C (p.Val1359=)
c.1384G>C
n.13G>C
n.642G>C
c.5034G>C (p.Val1678=)
11g.121146088G>TCA477383261TBCEL-TECTA,TECTAc.4077G>T (p.Val1359=)
c.1384G>T
n.13G>T
n.642G>T
c.5034G>T (p.Val1678=)
 gnomAD v4
11g.121146089A>CCA383023221TBCEL-TECTA,TECTAc.4078A>C (p.Thr1360Pro)
c.1385A>C
n.14A>C
n.643A>C
c.5035A>C (p.Thr1679Pro)
11g.121146089A>GCA383023224TBCEL-TECTA,TECTAc.4078A>G (p.Thr1360Ala)
c.1385A>G
n.14A>G
n.643A>G
c.5035A>G (p.Thr1679Ala)
11g.121146089A>TCA383023226TBCEL-TECTA,TECTAc.4078A>T (p.Thr1360Ser)
c.1385A>T
n.14A>T
n.643A>T
c.5035A>T (p.Thr1679Ser)
11g.121146090C>ACA383023577TBCEL-TECTA,TECTAc.4079C>A (p.Thr1360Asn)
c.1386C>A
n.15C>A
n.644C>A
c.5036C>A (p.Thr1679Asn)
11g.121146090C=CA2004737657TBCEL-TECTA,TECTAc.4079C= (p.Thr1360=)
c.1386C=
n.15C=
n.644C=
c.5036C= (p.Thr1679=)
11g.121146090C>GCA383023579TBCEL-TECTA,TECTAc.4079C>G (p.Thr1360Ser)
c.1386C>G
n.15C>G
n.644C>G
c.5036C>G (p.Thr1679Ser)
11g.121146090C>TCA383023582TBCEL-TECTA,TECTAc.4079C>T (p.Thr1360Ile)
c.1386C>T
n.15C>T
n.644C>T
c.5036C>T (p.Thr1679Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.121146091T>ACA477214424TBCEL-TECTA,TECTAc.4080T>A (p.Thr1360=)
c.1387T>A
n.16T>A
n.645T>A
c.5037T>A (p.Thr1679=)
11g.121146091T>CCA477214427TBCEL-TECTA,TECTAc.4080T>C (p.Thr1360=)
c.1387T>C
n.16T>C
n.645T>C
c.5037T>C (p.Thr1679=)
11g.121146091T>GCA477214422TBCEL-TECTA,TECTAc.4080T>G (p.Thr1360=)
c.1387T>G
n.16T>G
n.645T>G
c.5037T>G (p.Thr1679=)
11g.121146092G>ACA383023590TBCEL-TECTA,TECTAc.4081G>A (p.Gly1361Ser)
c.1388G>A
n.17G>A
n.646G>A
c.5038G>A (p.Gly1680Ser)
11g.121146092G>CCA383023587TBCEL-TECTA,TECTAc.4081G>C (p.Gly1361Arg)
c.1388G>C
n.17G>C
n.646G>C
c.5038G>C (p.Gly1680Arg)
11g.121146092G>TCA383023585TBCEL-TECTA,TECTAc.4081G>T (p.Gly1361Cys)
c.1388G>T
n.17G>T
n.646G>T
c.5038G>T (p.Gly1680Cys)
11g.121146093G>ACA383023593TBCEL-TECTA,TECTAc.4082G>A (p.Gly1361Asp)
c.1389G>A
n.18G>A
n.647G>A
c.5039G>A (p.Gly1680Asp)
 gnomAD v4
11g.121146093G>CCA383023595TBCEL-TECTA,TECTAc.4082G>C (p.Gly1361Ala)
c.1389G>C
n.18G>C
n.647G>C
c.5039G>C (p.Gly1680Ala)
11g.121146093G=CA2004737658TBCEL-TECTA,TECTAc.4082G= (p.Gly1361=)
c.1389G=
n.18G=
n.647G=
c.5039G= (p.Gly1680=)
11g.121146093G>TCA383023597TBCEL-TECTA,TECTAc.4082G>T (p.Gly1361Val)
c.1389G>T
n.18G>T
n.647G>T
c.5039G>T (p.Gly1680Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121146094C>ACA477214438TBCEL-TECTA,TECTAc.4083C>A (p.Gly1361=)
c.1390C>A
n.19C>A
n.648C>A
c.5040C>A (p.Gly1680=)
11g.121146094C>GCA477214440TBCEL-TECTA,TECTAc.4083C>G (p.Gly1361=)
c.1390C>G
n.19C>G
n.648C>G
c.5040C>G (p.Gly1680=)
11g.121146094C>TCA477214442TBCEL-TECTA,TECTAc.4083C>T (p.Gly1361=)
c.1390C>T
n.19C>T
n.648C>T
c.5040C>T (p.Gly1680=)
11g.121146095T>ACA383023601TBCEL-TECTA,TECTAc.4084T>A (p.Trp1362Arg)
c.1391T>A
n.20T>A
n.649T>A
c.5041T>A (p.Trp1681Arg)
11g.121146095T>CCA383023603TBCEL-TECTA,TECTAc.4084T>C (p.Trp1362Arg)
c.1391T>C
n.20T>C
n.649T>C
c.5041T>C (p.Trp1681Arg)
11g.121146095T>GCA383023605TBCEL-TECTA,TECTAc.4084T>G (p.Trp1362Gly)
c.1391T>G
n.20T>G
n.649T>G
c.5041T>G (p.Trp1681Gly)
11g.121146096G>ACA6327349TBCEL-TECTA,TECTAc.4085G>A (p.Trp1362Ter)
c.1392G>A
n.21G>A
n.650G>A
c.5042G>A (p.Trp1681Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146096G>CCA383023606TBCEL-TECTA,TECTAc.4085G>C (p.Trp1362Ser)
c.1392G>C
n.21G>C
n.650G>C
c.5042G>C (p.Trp1681Ser)
11g.121146096G=CA2004737659TBCEL-TECTA,TECTAc.4085G= (p.Trp1362=)
c.1392G=
n.21G=
n.650G=
c.5042G= (p.Trp1681=)
11g.121146096G>TCA383023608TBCEL-TECTA,TECTAc.4085G>T (p.Trp1362Leu)
c.1392G>T
n.21G>T
n.650G>T
c.5042G>T (p.Trp1681Leu)
11g.121146097G>ACA383023609TBCEL-TECTA,TECTAc.4086G>A (p.Trp1362Ter)
c.1393G>A
n.22G>A
n.651G>A
c.5043G>A (p.Trp1681Ter)
11g.121146097G>CCA383023611TBCEL-TECTA,TECTAc.4086G>C (p.Trp1362Cys)
c.1393G>C
n.22G>C
n.651G>C
c.5043G>C (p.Trp1681Cys)
11g.121146097G>TCA383023613TBCEL-TECTA,TECTAc.4086G>T (p.Trp1362Cys)
c.1393G>T
n.22G>T
n.651G>T
c.5043G>T (p.Trp1681Cys)
11g.121146098A=CA2004737660TBCEL-TECTA,TECTAc.4087A= (p.Arg1363=)
c.1394A=
n.23A=
n.652A=
c.5044A= (p.Arg1682=)
11g.121146098A>CCA477214458TBCEL-TECTA,TECTAc.4087A>C (p.Arg1363=)
c.1394A>C
n.23A>C
n.652A>C
c.5044A>C (p.Arg1682=)
11g.121146098A>GCA6327350TBCEL-TECTA,TECTAc.4087A>G (p.Arg1363Gly)
c.1394A>G
n.23A>G
n.652A>G
c.5044A>G (p.Arg1682Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146098A>TCA383023618TBCEL-TECTA,TECTAc.4087A>T (p.Arg1363Trp)
c.1394A>T
n.23A>T
n.652A>T
c.5044A>T (p.Arg1682Trp)
11g.121146099G>ACA383023625TBCEL-TECTA,TECTAc.4088G>A (p.Arg1363Lys)
c.1395G>A
n.24G>A
n.653G>A
c.5045G>A (p.Arg1682Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121146099G>CCA383023623TBCEL-TECTA,TECTAc.4088G>C (p.Arg1363Thr)
c.1395G>C
n.24G>C
n.653G>C
c.5045G>C (p.Arg1682Thr)
 gnomAD v4
11g.121146099G=CA2004737661TBCEL-TECTA,TECTAc.4088G= (p.Arg1363=)
c.1395G=
n.24G=
n.653G=
c.5045G= (p.Arg1682=)
11g.121146099G>TCA383023621TBCEL-TECTA,TECTAc.4088G>T (p.Arg1363Met)
c.1395G>T
n.24G>T
n.653G>T
c.5045G>T (p.Arg1682Met)
11g.121146100G>ACA477214470TBCEL-TECTA,TECTAc.4089G>A (p.Arg1363=)
c.1396G>A
n.25G>A
n.654G>A
c.5046G>A (p.Arg1682=)
11g.121146100G>CCA383023627TBCEL-TECTA,TECTAc.4089G>C (p.Arg1363Ser)
c.1396G>C
n.25G>C
n.654G>C
c.5046G>C (p.Arg1682Ser)
11g.121146100G>TCA383023629TBCEL-TECTA,TECTAc.4089G>T (p.Arg1363Ser)
c.1396G>T
n.25G>T
n.654G>T
c.5046G>T (p.Arg1682Ser)
11g.121146101A=CA2004737662TBCEL-TECTA,TECTAc.4090A= (p.Asn1364=)
c.1397A=
n.26A=
n.655A=
c.5047A= (p.Asn1683=)
11g.121146101A>CCA383023631TBCEL-TECTA,TECTAc.4090A>C (p.Asn1364His)
c.1397A>C
n.26A>C
n.655A>C
c.5047A>C (p.Asn1683His)
11g.121146101A>GCA383023633TBCEL-TECTA,TECTAc.4090A>G (p.Asn1364Asp)
c.1397A>G
n.26A>G
n.655A>G
c.5047A>G (p.Asn1683Asp)
 dbSNP
11g.121146101A>TCA383023636TBCEL-TECTA,TECTAc.4090A>T (p.Asn1364Tyr)
c.1397A>T
n.26A>T
n.655A>T
c.5047A>T (p.Asn1683Tyr)
11g.121146102A=CA2004737663TBCEL-TECTA,TECTAc.4091A= (p.Asn1364=)
c.1398A=
n.27A=
n.656A=
c.5048A= (p.Asn1683=)
11g.121146102A>CCA383023639TBCEL-TECTA,TECTAc.4091A>C (p.Asn1364Thr)
c.1398A>C
n.27A>C
n.656A>C
c.5048A>C (p.Asn1683Thr)
11g.121146102A>GCA6327351TBCEL-TECTA,TECTAc.4091A>G (p.Asn1364Ser)
c.1398A>G
n.27A>G
n.656A>G
c.5048A>G (p.Asn1683Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146102A>TCA383023643TBCEL-TECTA,TECTAc.4091A>T (p.Asn1364Ile)
c.1398A>T
n.27A>T
n.656A>T
c.5048A>T (p.Asn1683Ile)
 gnomAD v4
11g.121146103T>ACA383023645TBCEL-TECTA,TECTAc.4092T>A (p.Asn1364Lys)
c.1399T>A
n.28T>A
n.657T>A
c.5049T>A (p.Asn1683Lys)
 dbSNP
11g.121146103T>CCA477214487TBCEL-TECTA,TECTAc.4092T>C (p.Asn1364=)
c.1399T>C
n.28T>C
n.657T>C
c.5049T>C (p.Asn1683=)
11g.121146103T>GCA383023647TBCEL-TECTA,TECTAc.4092T>G (p.Asn1364Lys)
c.1399T>G
n.28T>G
n.657T>G
c.5049T>G (p.Asn1683Lys)
11g.121146103T=CA2004737664TBCEL-TECTA,TECTAc.4092T= (p.Asn1364=)
c.1399T=
n.28T=
n.657T=
c.5049T= (p.Asn1683=)
11g.121146104T>ACA383023650TBCEL-TECTA,TECTAc.4093T>A (p.Tyr1365Asn)
c.1400T>A
n.29T>A
n.658T>A
c.5050T>A (p.Tyr1684Asn)
11g.121146104T>CCA383023652TBCEL-TECTA,TECTAc.4093T>C (p.Tyr1365His)
c.1400T>C
n.29T>C
n.658T>C
c.5050T>C (p.Tyr1684His)
 gnomAD v4
11g.121146104T>GCA6327352TBCEL-TECTA,TECTAc.4093T>G (p.Tyr1365Asp)
c.1400T>G
n.29T>G
n.658T>G
c.5050T>G (p.Tyr1684Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121146104T=CA2004737665TBCEL-TECTA,TECTAc.4093T= (p.Tyr1365=)
c.1400T=
n.29T=
n.658T=
c.5050T= (p.Tyr1684=)
11g.121146105A>CCA383023661TBCEL-TECTA,TECTAc.4094A>C (p.Tyr1365Ser)
c.1401A>C
n.30A>C
n.659A>C
c.5051A>C (p.Tyr1684Ser)
11g.121146105A>GCA383023656TBCEL-TECTA,TECTAc.4094A>G (p.Tyr1365Cys)
c.1401A>G
n.30A>G
n.659A>G
c.5051A>G (p.Tyr1684Cys)
11g.121146105A>TCA383023658TBCEL-TECTA,TECTAc.4094A>T (p.Tyr1365Phe)
c.1401A>T
n.30A>T
n.659A>T
c.5051A>T (p.Tyr1684Phe)
11g.121146106C>ACA383023663TBCEL-TECTA,TECTAc.4095C>A (p.Tyr1365Ter)
c.1402C>A
n.31C>A
n.660C>A
c.5052C>A (p.Tyr1684Ter)
11g.121146106C>GCA383023666TBCEL-TECTA,TECTAc.4095C>G (p.Tyr1365Ter)
c.1402C>G
n.31C>G
n.660C>G
c.5052C>G (p.Tyr1684Ter)
11g.121146106C>TCA477214506TBCEL-TECTA,TECTAc.4095C>T (p.Tyr1365=)
c.1402C>T
n.31C>T
n.660C>T
c.5052C>T (p.Tyr1684=)
11g.121146107A>CCA383023669TBCEL-TECTA,TECTAc.4096A>C (p.Thr1366Pro)
c.1403A>C
n.32A>C
n.661A>C
c.5053A>C (p.Thr1685Pro)
11g.121146107A>GCA383023670TBCEL-TECTA,TECTAc.4096A>G (p.Thr1366Ala)
c.1403A>G
n.32A>G
n.661A>G
c.5053A>G (p.Thr1685Ala)
 gnomAD v4
11g.121146107A>TCA383023672TBCEL-TECTA,TECTAc.4096A>T (p.Thr1366Ser)
c.1403A>T
n.32A>T
n.661A>T
c.5053A>T (p.Thr1685Ser)
11g.121146108C>ACA383023675TBCEL-TECTA,TECTAc.4097C>A (p.Thr1366Lys)
c.1404C>A
n.33C>A
n.662C>A
c.5054C>A (p.Thr1685Lys)
11g.121146108C=CA2004737666TBCEL-TECTA,TECTAc.4097C= (p.Thr1366=)
c.1404C=
n.33C=
n.662C=
c.5054C= (p.Thr1685=)
11g.121146108C>GCA383023676TBCEL-TECTA,TECTAc.4097C>G (p.Thr1366Arg)
c.1404C>G
n.33C>G
n.662C>G
c.5054C>G (p.Thr1685Arg)
 gnomAD v4
11g.121146108C>TCA6327353TBCEL-TECTA,TECTAc.4097C>T (p.Thr1366Met)
c.1404C>T
n.33C>T
n.662C>T
c.5054C>T (p.Thr1685Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146109G>ACA136048TBCEL-TECTA,TECTAc.4098G>A (p.Thr1366=)
c.1405G>A
n.34G>A
n.663G>A
c.5055G>A (p.Thr1685=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146109G>CCA477214524TBCEL-TECTA,TECTAc.4098G>C (p.Thr1366=)
c.1405G>C
n.34G>C
n.663G>C
c.5055G>C (p.Thr1685=)
 gnomAD v4
11g.121146109G=CA1630855397TBCEL-TECTA,TECTAc.4098G= (p.Thr1366=)
c.1405G=
n.34G=
n.663G=
c.5055G= (p.Thr1685=)
11g.121146109G>TCA477214520TBCEL-TECTA,TECTAc.4098G>T (p.Thr1366=)
c.1405G>T
n.34G>T
n.663G>T
c.5055G>T (p.Thr1685=)
 dbSNP gnomAD v4
11g.121146110T>ACA383023681TBCEL-TECTA,TECTAc.4099T>A (p.Ser1367Thr)
c.1406T>A
n.35T>A
n.664T>A
c.5056T>A (p.Ser1686Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121146110T>CCA383023683TBCEL-TECTA,TECTAc.4099T>C (p.Ser1367Pro)
c.1406T>C
n.35T>C
n.664T>C
c.5056T>C (p.Ser1686Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121146110T>GCA383023685TBCEL-TECTA,TECTAc.4099T>G (p.Ser1367Ala)
c.1406T>G
n.35T>G
n.664T>G
c.5056T>G (p.Ser1686Ala)
11g.121146110T=CA2004737667TBCEL-TECTA,TECTAc.4099T= (p.Ser1367=)
c.1406T=
n.35T=
n.664T=
c.5056T= (p.Ser1686=)
11g.121146111C>ACA383023688TBCEL-TECTA,TECTAc.4100C>A (p.Ser1367Tyr)
c.1407C>A
n.36C>A
n.665C>A
c.5057C>A (p.Ser1686Tyr)
 gnomAD v4 COSMIC
11g.121146111C>GCA383023693TBCEL-TECTA,TECTAc.4100C>G (p.Ser1367Cys)
c.1407C>G
n.36C>G
n.665C>G
c.5057C>G (p.Ser1686Cys)
11g.121146111C>TCA383023690TBCEL-TECTA,TECTAc.4100C>T (p.Ser1367Phe)
c.1407C>T
n.36C>T
n.665C>T
c.5057C>T (p.Ser1686Phe)
 COSMIC
11g.121146112C>ACA477214542TBCEL-TECTA,TECTAc.4101C>A (p.Ser1367=)
c.1408C>A
n.37C>A
n.666C>A
c.5058C>A (p.Ser1686=)
11g.121146112C>GCA477214545TBCEL-TECTA,TECTAc.4101C>G (p.Ser1367=)
c.1408C>G
n.37C>G
n.666C>G
c.5058C>G (p.Ser1686=)
11g.121146112C>TCA477214547TBCEL-TECTA,TECTAc.4101C>T (p.Ser1367=)
c.1408C>T
n.37C>T
n.666C>T
c.5058C>T (p.Ser1686=)
11g.121146113T>ACA383023696TBCEL-TECTA,TECTAc.4102T>A (p.Cys1368Ser)
c.1409T>A
n.38T>A
n.667T>A
c.5059T>A (p.Cys1687Ser)
11g.121146113T>CCA383023699TBCEL-TECTA,TECTAc.4102T>C (p.Cys1368Arg)
c.1409T>C
n.38T>C
n.667T>C
c.5059T>C (p.Cys1687Arg)
11g.121146113T>GCA383023698TBCEL-TECTA,TECTAc.4102T>G (p.Cys1368Gly)
c.1409T>G
n.38T>G
n.667T>G
c.5059T>G (p.Cys1687Gly)
 dbSNP gnomAD v4
11g.121146113T=CA2004737668TBCEL-TECTA,TECTAc.4102T= (p.Cys1368=)
c.1409T=
n.38T=
n.667T=
c.5059T= (p.Cys1687=)
11g.121146114G>ACA383023702TBCEL-TECTA,TECTAc.4103G>A (p.Cys1368Tyr)
c.1410G>A
n.39G>A
n.668G>A
c.5060G>A (p.Cys1687Tyr)
 gnomAD v4
11g.121146114G>CCA383023704TBCEL-TECTA,TECTAc.4103G>C (p.Cys1368Ser)
c.1410G>C
n.39G>C
n.668G>C
c.5060G>C (p.Cys1687Ser)
11g.121146114G>TCA383023706TBCEL-TECTA,TECTAc.4103G>T (p.Cys1368Phe)
c.1410G>T
n.39G>T
n.668G>T
c.5060G>T (p.Cys1687Phe)
11g.121146115C>ACA6327354TBCEL-TECTA,TECTAc.4104C>A (p.Cys1368Ter)
c.1411C>A
n.40C>A
n.669C>A
c.5061C>A (p.Cys1687Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146115C=CA2004737669TBCEL-TECTA,TECTAc.4104C= (p.Cys1368=)
c.1411C=
n.40C=
n.669C=
c.5061C= (p.Cys1687=)
11g.121146115C>GCA383023711TBCEL-TECTA,TECTAc.4104C>G (p.Cys1368Trp)
c.1411C>G
n.40C>G
n.669C>G
c.5061C>G (p.Cys1687Trp)
11g.121146115C>TCA477214563TBCEL-TECTA,TECTAc.4104C>T (p.Cys1368=)
c.1411C>T
n.40C>T
n.669C>T
c.5061C>T (p.Cys1687=)
11g.121146116A>CCA383023713TBCEL-TECTA,TECTAc.4105A>C (p.Thr1369Pro)
c.1412A>C
n.41A>C
n.670A>C
c.5062A>C (p.Thr1688Pro)
11g.121146116A>GCA383023715TBCEL-TECTA,TECTAc.4105A>G (p.Thr1369Ala)
c.1412A>G
n.41A>G
n.670A>G
c.5062A>G (p.Thr1688Ala)
11g.121146116A>TCA383023717TBCEL-TECTA,TECTAc.4105A>T (p.Thr1369Ser)
c.1412A>T
n.41A>T
n.670A>T
c.5062A>T (p.Thr1688Ser)
11g.121146117G>ACA383023720TBCEL-TECTA,TECTAc.4105+1G>A (n.4105+1G>A)
c.1412+1G>A
n.41+1G>A
n.671G>A
c.5062+1G>A (n.5062+1G>A)
11g.121146117G>CCA383023722TBCEL-TECTA,TECTAc.4105+1G>C (n.4105+1G>C)
c.1412+1G>C
n.41+1G>C
n.671G>C
c.5062+1G>C (n.5062+1G>C)
 gnomAD v4
11g.121146117G>TCA383023724TBCEL-TECTA,TECTAc.4105+1G>T (n.4105+1G>T)
c.1412+1G>T
n.41+1G>T
n.671G>T
c.5062+1G>T (n.5062+1G>T)
11g.121146118T>ACA383023731TBCEL-TECTA,TECTAc.4105+2T>A (n.4105+2T>A)
c.1412+2T>A
n.41+2T>A
n.672T>A
c.5062+2T>A (n.5062+2T>A)
11g.121146118T>CCA383023729TBCEL-TECTA,TECTAc.4105+2T>C (n.4105+2T>C)
c.1412+2T>C
n.41+2T>C
n.672T>C
c.5062+2T>C (n.5062+2T>C)
 gnomAD v4
11g.121146118T>GCA383023727TBCEL-TECTA,TECTAc.4105+2T>G (n.4105+2T>G)
c.1412+2T>G
n.41+2T>G
n.672T>G
c.5062+2T>G (n.5062+2T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121146118T=CA2004737670TBCEL-TECTA,TECTAc.4105+2T= (n.4105+2T=)
c.1412+2T=
n.41+2T=
n.672T=
c.5062+2T= (n.5062+2T=)
11g.121146119G>TCA2616488647TBCEL-TECTA,TECTAc.4105+3G>T (n.4105+3G>T)
c.1412+3G>T
n.41+3G>T
n.673G>T
c.5062+3G>T (n.5062+3G>T)
 gnomAD v4
11g.121146120A>GCA2616488649TBCEL-TECTA,TECTAc.4105+4A>G (n.4105+4A>G)
c.1412+4A>G
n.41+4A>G
n.674A>G
c.5062+4A>G (n.5062+4A>G)
 gnomAD v4
11g.121146121G>ACA602220998TBCEL-TECTA,TECTAc.4105+5G>A (n.4105+5G>A)
c.1412+5G>A
n.41+5G>A
n.675G>A
c.5062+5G>A (n.5062+5G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121146121G=CA2004737671TBCEL-TECTA,TECTAc.4105+5G= (n.4105+5G=)
c.1412+5G=
n.41+5G=
n.675G=
c.5062+5G= (n.5062+5G=)
11g.121146122T>ACA2616488650TBCEL-TECTA,TECTAc.4105+6T>A (n.4105+6T>A)
c.1412+6T>A
n.41+6T>A
n.676T>A
c.5062+6T>A (n.5062+6T>A)
 gnomAD v4
11g.121146122T>CCA229831937TBCEL-TECTA,TECTAc.4105+6T>C (n.4105+6T>C)
c.1412+6T>C
n.41+6T>C
n.676T>C
c.5062+6T>C (n.5062+6T>C)
 dbSNP
11g.121146122T=CA2004737672TBCEL-TECTA,TECTAc.4105+6T= (n.4105+6T=)
c.1412+6T=
n.41+6T=
n.676T=
c.5062+6T= (n.5062+6T=)
11g.121146123C>ACA2616488652TBCEL-TECTA,TECTAc.4105+7C>A (n.4105+7C>A)
c.1412+7C>A
n.41+7C>A
n.677C>A
c.5062+7C>A (n.5062+7C>A)
 gnomAD v4
11g.121146123C>TCA2616488653TBCEL-TECTA,TECTAc.4105+7C>T (n.4105+7C>T)
c.1412+7C>T
n.41+7C>T
n.677C>T
c.5062+7C>T (n.5062+7C>T)
 gnomAD v4
11g.121146124C>ACA2616488655TBCEL-TECTA,TECTAc.4105+8C>A (n.4105+8C>A)
c.1412+8C>A
n.41+8C>A
n.678C>A
c.5062+8C>A (n.5062+8C>A)
 gnomAD v4
11g.121146124C=CA2004737673TBCEL-TECTA,TECTAc.4105+8C= (n.4105+8C=)
c.1412+8C=
n.41+8C=
n.678C=
c.5062+8C= (n.5062+8C=)
11g.121146124C>TCA6327355TBCEL-TECTA,TECTAc.4105+8C>T (n.4105+8C>T)
c.1412+8C>T
n.41+8C>T
n.678C>T
c.5062+8C>T (n.5062+8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146126T>CCA2616488658TBCEL-TECTA,TECTAc.4105+10T>C (n.4105+10T>C)
c.1412+10T>C
n.41+10T>C
n.680T>C
c.5062+10T>C (n.5062+10T>C)
 gnomAD v4
11g.121146127C>ACA2616488661TBCEL-TECTA,TECTAc.4105+11C>A (n.4105+11C>A)
c.1412+11C>A
n.41+11C>A
n.681C>A
c.5062+11C>A (n.5062+11C>A)
 gnomAD v4
11g.121146127C=CA2004737674TBCEL-TECTA,TECTAc.4105+11C= (n.4105+11C=)
c.1412+11C=
n.41+11C=
n.681C=
c.5062+11C= (n.5062+11C=)
11g.121146127C>TCA602220999TBCEL-TECTA,TECTAc.4105+11C>T (n.4105+11C>T)
c.1412+11C>T
n.41+11C>T
n.681C>T
c.5062+11C>T (n.5062+11C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.121146128T>CCA2004737676TBCEL-TECTA,TECTAc.4105+12T>C (n.4105+12T>C)
c.1412+12T>C
n.41+12T>C
n.682T>C
c.5062+12T>C (n.5062+12T>C)
 dbSNP gnomAD v4
11g.121146128T=CA2004737675TBCEL-TECTA,TECTAc.4105+12T= (n.4105+12T=)
c.1412+12T=
n.41+12T=
n.682T=
c.5062+12T= (n.5062+12T=)
11g.121146129_121146131delCA2616488662TBCEL-TECTA,TECTAc.4105+13_4105+15del (n.4105+13_4105+15del)
c.1412+13_1412+15del
n.41+13_41+15del
n.683_685del
c.5062+13_5062+15del (n.5062+13_5062+15del)
 gnomAD v4
11g.121146129C>ACA2004737677TBCEL-TECTA,TECTAc.4105+13C>A (n.4105+13C>A)
c.1412+13C>A
n.41+13C>A
n.683C>A
c.5062+13C>A (n.5062+13C>A)
 dbSNP
11g.121146129C=CA1630855398TBCEL-TECTA,TECTAc.4105+13C= (n.4105+13C=)
c.1412+13C=
n.41+13C=
n.683C=
c.5062+13C= (n.5062+13C=)
11g.121146129C>GCA602221000TBCEL-TECTA,TECTAc.4105+13C>G (n.4105+13C>G)
c.1412+13C>G
n.41+13C>G
n.683C>G
c.5062+13C>G (n.5062+13C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.121146129C>TCA136050TBCEL-TECTA,TECTAc.4105+13C>T (n.4105+13C>T)
c.1412+13C>T
n.41+13C>T
n.683C>T
c.5062+13C>T (n.5062+13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched