Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121145981T>ACA383022901TBCEL-TECTA,TECTAc.3970T>A (p.Tyr1324Asn)
c.1277T>A
n.535T>A
c.4927T>A (p.Tyr1643Asn)
11g.121145981T>CCA383022903TBCEL-TECTA,TECTAc.3970T>C (p.Tyr1324His)
c.1277T>C
n.535T>C
c.4927T>C (p.Tyr1643His)
11g.121145981T>GCA383022902TBCEL-TECTA,TECTAc.3970T>G (p.Tyr1324Asp)
c.1277T>G
n.535T>G
c.4927T>G (p.Tyr1643Asp)
11g.121145981dupCA2575008441TBCEL-TECTA,TECTAc.3970dup (p.Tyr1324LeufsTer2)
c.1277dup
n.535dup
c.4927dup (p.Tyr1643LeufsTer2)
11g.121145982A=CA2004737617TBCEL-TECTA,TECTAc.3971A= (p.Tyr1324=)
c.1278A=
n.536A=
c.4928A= (p.Tyr1643=)
11g.121145982A>CCA383022904TBCEL-TECTA,TECTAc.3971A>C (p.Tyr1324Ser)
c.1278A>C
n.536A>C
c.4928A>C (p.Tyr1643Ser)
 gnomAD v4
11g.121145982A>GCA6327321TBCEL-TECTA,TECTAc.3971A>G (p.Tyr1324Cys)
c.1278A>G
n.536A>G
c.4928A>G (p.Tyr1643Cys)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
11g.121145982A>TCA383022905TBCEL-TECTA,TECTAc.3971A>T (p.Tyr1324Phe)
c.1278A>T
n.536A>T
c.4928A>T (p.Tyr1643Phe)
11g.121145983T>ACA383022906TBCEL-TECTA,TECTAc.3972T>A (p.Tyr1324Ter)
c.1279T>A
n.537T>A
c.4929T>A (p.Tyr1643Ter)
11g.121145983T>CCA477383136TBCEL-TECTA,TECTAc.3972T>C (p.Tyr1324=)
c.1279T>C
n.537T>C
c.4929T>C (p.Tyr1643=)
11g.121145983T>GCA383022907TBCEL-TECTA,TECTAc.3972T>G (p.Tyr1324Ter)
c.1279T>G
n.537T>G
c.4929T>G (p.Tyr1643Ter)
11g.121145984A=CA2004737618TBCEL-TECTA,TECTAc.3973A= (p.Lys1325=)
c.1280A=
n.538A=
c.4930A= (p.Lys1644=)
11g.121145984A>CCA383022908TBCEL-TECTA,TECTAc.3973A>C (p.Lys1325Gln)
c.1280A>C
n.538A>C
c.4930A>C (p.Lys1644Gln)
11g.121145984A>GCA383022909TBCEL-TECTA,TECTAc.3973A>G (p.Lys1325Glu)
c.1280A>G
n.538A>G
c.4930A>G (p.Lys1644Glu)
 dbSNP gnomAD v3 gnomAD v4
11g.121145984A>TCA383022910TBCEL-TECTA,TECTAc.3973A>T (p.Lys1325Ter)
c.1280A>T
n.538A>T
c.4930A>T (p.Lys1644Ter)
11g.121145985A>CCA383022911TBCEL-TECTA,TECTAc.3974A>C (p.Lys1325Thr)
c.1281A>C
n.539A>C
c.4931A>C (p.Lys1644Thr)
11g.121145985A>GCA383022912TBCEL-TECTA,TECTAc.3974A>G (p.Lys1325Arg)
c.1281A>G
n.539A>G
c.4931A>G (p.Lys1644Arg)
 gnomAD v4
11g.121145985A>TCA383022913TBCEL-TECTA,TECTAc.3974A>T (p.Lys1325Met)
c.1281A>T
n.539A>T
c.4931A>T (p.Lys1644Met)
11g.121145986G>ACA6327322TBCEL-TECTA,TECTAc.3975G>A (p.Lys1325=)
c.1282G>A
n.540G>A
c.4932G>A (p.Lys1644=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145986G>CCA383022915TBCEL-TECTA,TECTAc.3975G>C (p.Lys1325Asn)
c.1282G>C
n.540G>C
c.4932G>C (p.Lys1644Asn)
11g.121145986G=CA2004737619TBCEL-TECTA,TECTAc.3975G= (p.Lys1325=)
c.1282G=
n.540G=
c.4932G= (p.Lys1644=)
11g.121145986G>TCA383022914TBCEL-TECTA,TECTAc.3975G>T (p.Lys1325Asn)
c.1282G>T
n.540G>T
c.4932G>T (p.Lys1644Asn)
11g.121145987A>CCA383022916TBCEL-TECTA,TECTAc.3976A>C (p.Asn1326His)
c.1283A>C
n.541A>C
c.4933A>C (p.Asn1645His)
11g.121145987A>GCA383022917TBCEL-TECTA,TECTAc.3976A>G (p.Asn1326Asp)
c.1283A>G
n.541A>G
c.4933A>G (p.Asn1645Asp)
11g.121145987A>TCA383022918TBCEL-TECTA,TECTAc.3976A>T (p.Asn1326Tyr)
c.1283A>T
n.541A>T
c.4933A>T (p.Asn1645Tyr)
11g.121145988A>CCA383022919TBCEL-TECTA,TECTAc.3977A>C (p.Asn1326Thr)
c.1284A>C
n.542A>C
c.4934A>C (p.Asn1645Thr)
11g.121145988A>GCA383022920TBCEL-TECTA,TECTAc.3977A>G (p.Asn1326Ser)
c.1284A>G
n.542A>G
c.4934A>G (p.Asn1645Ser)
11g.121145988A>TCA383022921TBCEL-TECTA,TECTAc.3977A>T (p.Asn1326Ile)
c.1284A>T
n.542A>T
c.4934A>T (p.Asn1645Ile)
11g.121145989C>ACA383022922TBCEL-TECTA,TECTAc.3978C>A (p.Asn1326Lys)
c.1285C>A
n.543C>A
c.4935C>A (p.Asn1645Lys)
11g.121145989C>GCA383022923TBCEL-TECTA,TECTAc.3978C>G (p.Asn1326Lys)
c.1285C>G
n.543C>G
c.4935C>G (p.Asn1645Lys)
11g.121145989C>TCA477383137TBCEL-TECTA,TECTAc.3978C>T (p.Asn1326=)
c.1285C>T
n.543C>T
c.4935C>T (p.Asn1645=)
 gnomAD v4
11g.121145990T>ACA383022924TBCEL-TECTA,TECTAc.3979T>A (p.Cys1327Ser)
c.1286T>A
n.544T>A
c.4936T>A (p.Cys1646Ser)
11g.121145990T>CCA383022925TBCEL-TECTA,TECTAc.3979T>C (p.Cys1327Arg)
c.1286T>C
n.544T>C
c.4936T>C (p.Cys1646Arg)
11g.121145990T>GCA383022926TBCEL-TECTA,TECTAc.3979T>G (p.Cys1327Gly)
c.1286T>G
n.544T>G
c.4936T>G (p.Cys1646Gly)
11g.121145991G>ACA383022929TBCEL-TECTA,TECTAc.3980G>A (p.Cys1327Tyr)
c.1287G>A
n.545G>A
c.4937G>A (p.Cys1646Tyr)
11g.121145991G>CCA383022928TBCEL-TECTA,TECTAc.3980G>C (p.Cys1327Ser)
c.1287G>C
n.545G>C
c.4937G>C (p.Cys1646Ser)
11g.121145991G=CA2004737620TBCEL-TECTA,TECTAc.3980G= (p.Cys1327=)
c.1287G=
n.545G=
c.4937G= (p.Cys1646=)
11g.121145991G>TCA383022927TBCEL-TECTA,TECTAc.3980G>T (p.Cys1327Phe)
c.1287G>T
n.545G>T
c.4937G>T (p.Cys1646Phe)
 dbSNP
11g.121145992C>ACA383022930TBCEL-TECTA,TECTAc.3981C>A (p.Cys1327Ter)
c.1288C>A
n.546C>A
c.4938C>A (p.Cys1646Ter)
11g.121145992C>GCA383022931TBCEL-TECTA,TECTAc.3981C>G (p.Cys1327Trp)
c.1288C>G
n.546C>G
c.4938C>G (p.Cys1646Trp)
11g.121145992C>TCA477383138TBCEL-TECTA,TECTAc.3981C>T (p.Cys1327=)
c.1288C>T
n.546C>T
c.4938C>T (p.Cys1646=)
 COSMIC
11g.121145993C>ACA383022932TBCEL-TECTA,TECTAc.3982C>A (p.Leu1328Met)
c.1289C>A
n.547C>A
c.4939C>A (p.Leu1647Met)
11g.121145993C>GCA383022933TBCEL-TECTA,TECTAc.3982C>G (p.Leu1328Val)
c.1289C>G
n.547C>G
c.4939C>G (p.Leu1647Val)
11g.121145993C>TCA477383139TBCEL-TECTA,TECTAc.3982C>T (p.Leu1328=)
c.1289C>T
n.547C>T
c.4939C>T (p.Leu1647=)
11g.121145994T>ACA383022934TBCEL-TECTA,TECTAc.3983T>A (p.Leu1328Gln)
c.1290T>A
n.548T>A
c.4940T>A (p.Leu1647Gln)
11g.121145994T>CCA383022935TBCEL-TECTA,TECTAc.3983T>C (p.Leu1328Pro)
c.1290T>C
n.548T>C
c.4940T>C (p.Leu1647Pro)
11g.121145994T>GCA383022936TBCEL-TECTA,TECTAc.3983T>G (p.Leu1328Arg)
c.1290T>G
n.548T>G
c.4940T>G (p.Leu1647Arg)
11g.121145995G>ACA477383140TBCEL-TECTA,TECTAc.3984G>A (p.Leu1328=)
c.1291G>A
n.549G>A
c.4941G>A (p.Leu1647=)
11g.121145995G>CCA477383141TBCEL-TECTA,TECTAc.3984G>C (p.Leu1328=)
c.1291G>C
n.549G>C
c.4941G>C (p.Leu1647=)
11g.121145995G>TCA477383142TBCEL-TECTA,TECTAc.3984G>T (p.Leu1328=)
c.1291G>T
n.549G>T
c.4941G>T (p.Leu1647=)
11g.121145996T>ACA383022937TBCEL-TECTA,TECTAc.3985T>A (p.Phe1329Ile)
c.1292T>A
n.550T>A
c.4942T>A (p.Phe1648Ile)
11g.121145996T>CCA383022938TBCEL-TECTA,TECTAc.3985T>C (p.Phe1329Leu)
c.1292T>C
n.550T>C
c.4942T>C (p.Phe1648Leu)
11g.121145996T>GCA383022939TBCEL-TECTA,TECTAc.3985T>G (p.Phe1329Val)
c.1292T>G
n.550T>G
c.4942T>G (p.Phe1648Val)
11g.121145997T>ACA383022940TBCEL-TECTA,TECTAc.3986T>A (p.Phe1329Tyr)
c.1293T>A
n.551T>A
c.4943T>A (p.Phe1648Tyr)
11g.121145997T>CCA383022941TBCEL-TECTA,TECTAc.3986T>C (p.Phe1329Ser)
c.1293T>C
n.551T>C
c.4943T>C (p.Phe1648Ser)
11g.121145997T>GCA383022942TBCEL-TECTA,TECTAc.3986T>G (p.Phe1329Cys)
c.1293T>G
n.551T>G
c.4943T>G (p.Phe1648Cys)
11g.121145998T>ACA383022943TBCEL-TECTA,TECTAc.3987T>A (p.Phe1329Leu)
c.1294T>A
n.552T>A
c.4944T>A (p.Phe1648Leu)
11g.121145998T>CCA477383143TBCEL-TECTA,TECTAc.3987T>C (p.Phe1329=)
c.1294T>C
n.552T>C
c.4944T>C (p.Phe1648=)
11g.121145998T>GCA383022944TBCEL-TECTA,TECTAc.3987T>G (p.Phe1329Leu)
c.1294T>G
n.552T>G
c.4944T>G (p.Phe1648Leu)
11g.121145999G>ACA383022945TBCEL-TECTA,TECTAc.3988G>A (p.Asp1330Asn)
c.1295G>A
n.553G>A
c.4945G>A (p.Asp1649Asn)
11g.121145999G>CCA383022946TBCEL-TECTA,TECTAc.3988G>C (p.Asp1330His)
c.1295G>C
n.553G>C
c.4945G>C (p.Asp1649His)
11g.121145999G>TCA383022947TBCEL-TECTA,TECTAc.3988G>T (p.Asp1330Tyr)
c.1295G>T
n.553G>T
c.4945G>T (p.Asp1649Tyr)
 COSMIC
11g.121146000A=CA2004737621TBCEL-TECTA,TECTAc.3989A= (p.Asp1330=)
c.1296A=
n.554A=
c.4946A= (p.Asp1649=)
11g.121146000A>CCA383022948TBCEL-TECTA,TECTAc.3989A>C (p.Asp1330Ala)
c.1296A>C
n.554A>C
c.4946A>C (p.Asp1649Ala)
 dbSNP
11g.121146000A>GCA383022949TBCEL-TECTA,TECTAc.3989A>G (p.Asp1330Gly)
c.1296A>G
n.554A>G
c.4946A>G (p.Asp1649Gly)
11g.121146000A>TCA6327323TBCEL-TECTA,TECTAc.3989A>T (p.Asp1330Val)
c.1296A>T
n.554A>T
c.4946A>T (p.Asp1649Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146001C>ACA383022950TBCEL-TECTA,TECTAc.3990C>A (p.Asp1330Glu)
c.1297C>A
n.555C>A
c.4947C>A (p.Asp1649Glu)
11g.121146001C>GCA383022951TBCEL-TECTA,TECTAc.3990C>G (p.Asp1330Glu)
c.1297C>G
n.555C>G
c.4947C>G (p.Asp1649Glu)
11g.121146001C>TCA477383144TBCEL-TECTA,TECTAc.3990C>T (p.Asp1330=)
c.1297C>T
n.555C>T
c.4947C>T (p.Asp1649=)
11g.121146002T>ACA383022952TBCEL-TECTA,TECTAc.3991T>A (p.Ser1331Thr)
c.1298T>A
n.556T>A
c.4948T>A (p.Ser1650Thr)
11g.121146002T>CCA383022953TBCEL-TECTA,TECTAc.3991T>C (p.Ser1331Pro)
c.1298T>C
n.556T>C
c.4948T>C (p.Ser1650Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.121146002T>GCA383022954TBCEL-TECTA,TECTAc.3991T>G (p.Ser1331Ala)
c.1298T>G
n.556T>G
c.4948T>G (p.Ser1650Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.121146002T=CA2004737622TBCEL-TECTA,TECTAc.3991T= (p.Ser1331=)
c.1298T=
n.556T=
c.4948T= (p.Ser1650=)
11g.121146003C>ACA383022957TBCEL-TECTA,TECTAc.3992C>A (p.Ser1331Tyr)
c.1299C>A
n.557C>A
c.4949C>A (p.Ser1650Tyr)
11g.121146003C>GCA383022956TBCEL-TECTA,TECTAc.3992C>G (p.Ser1331Cys)
c.1299C>G
n.557C>G
c.4949C>G (p.Ser1650Cys)
11g.121146003C>TCA383022955TBCEL-TECTA,TECTAc.3992C>T (p.Ser1331Phe)
c.1299C>T
n.557C>T
c.4949C>T (p.Ser1650Phe)
 COSMIC
11g.121146004T>ACA477383147TBCEL-TECTA,TECTAc.3993T>A (p.Ser1331=)
c.1300T>A
n.558T>A
c.4950T>A (p.Ser1650=)
11g.121146004T>CCA477383145TBCEL-TECTA,TECTAc.3993T>C (p.Ser1331=)
c.1300T>C
n.558T>C
c.4950T>C (p.Ser1650=)
11g.121146004T>GCA477383146TBCEL-TECTA,TECTAc.3993T>G (p.Ser1331=)
c.1300T>G
n.558T>G
c.4950T>G (p.Ser1650=)
11g.121146005T>ACA383022958TBCEL-TECTA,TECTAc.3994T>A (p.Cys1332Ser)
c.1301T>A
n.559T>A
c.4951T>A (p.Cys1651Ser)
11g.121146005T>CCA383022960TBCEL-TECTA,TECTAc.3994T>C (p.Cys1332Arg)
c.1301T>C
n.559T>C
c.4951T>C (p.Cys1651Arg)
 gnomAD v4
11g.121146005T>GCA383022959TBCEL-TECTA,TECTAc.3994T>G (p.Cys1332Gly)
c.1301T>G
n.559T>G
c.4951T>G (p.Cys1651Gly)
11g.121146006G>ACA383022961TBCEL-TECTA,TECTAc.3995G>A (p.Cys1332Tyr)
c.1302G>A
n.560G>A
c.4952G>A (p.Cys1651Tyr)
 ClinVar
11g.121146006G>CCA383022962TBCEL-TECTA,TECTAc.3995G>C (p.Cys1332Ser)
c.1302G>C
n.560G>C
c.4952G>C (p.Cys1651Ser)
11g.121146006G>TCA383022963TBCEL-TECTA,TECTAc.3995G>T (p.Cys1332Phe)
c.1302G>T
n.560G>T
c.4952G>T (p.Cys1651Phe)
11g.121146007C>ACA383022964TBCEL-TECTA,TECTAc.3996C>A (p.Cys1332Ter)
c.1303C>A
n.561C>A
c.4953C>A (p.Cys1651Ter)
11g.121146007C>GCA383022965TBCEL-TECTA,TECTAc.3996C>G (p.Cys1332Trp)
c.1303C>G
n.561C>G
c.4953C>G (p.Cys1651Trp)
11g.121146007C>TCA477383148TBCEL-TECTA,TECTAc.3996C>T (p.Cys1332=)
c.1303C>T
n.561C>T
c.4953C>T (p.Cys1651=)
11g.121146008A=CA2004737623TBCEL-TECTA,TECTAc.3997A= (p.Ile1333=)
c.1304A=
n.562A=
c.4954A= (p.Ile1652=)
11g.121146008A>CCA383022966TBCEL-TECTA,TECTAc.3997A>C (p.Ile1333Leu)
c.1304A>C
n.562A>C
c.4954A>C (p.Ile1652Leu)
11g.121146008A>GCA229831782TBCEL-TECTA,TECTAc.3997A>G (p.Ile1333Val)
c.1304A>G
n.562A>G
c.4954A>G (p.Ile1652Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.121146008A>TCA383022967TBCEL-TECTA,TECTAc.3997A>T (p.Ile1333Phe)
c.1304A>T
n.562A>T
c.4954A>T (p.Ile1652Phe)
 gnomAD v4
11g.121146009T>ACA383022968TBCEL-TECTA,TECTAc.3998T>A (p.Ile1333Asn)
c.1305T>A
n.563T>A
c.4955T>A (p.Ile1652Asn)
 gnomAD v4
11g.121146009T>CCA383022969TBCEL-TECTA,TECTAc.3998T>C (p.Ile1333Thr)
c.1305T>C
n.563T>C
c.4955T>C (p.Ile1652Thr)
 dbSNP gnomAD v4
11g.121146009T>GCA383022970TBCEL-TECTA,TECTAc.3998T>G (p.Ile1333Ser)
c.1305T>G
n.563T>G
c.4955T>G (p.Ile1652Ser)
11g.121146009T=CA2004737624TBCEL-TECTA,TECTAc.3998T= (p.Ile1333=)
c.1305T=
n.563T=
c.4955T= (p.Ile1652=)
11g.121146010C>ACA477383149TBCEL-TECTA,TECTAc.3999C>A (p.Ile1333=)
c.1306C>A
n.564C>A
c.4956C>A (p.Ile1652=)
11g.121146010C=CA2004737625TBCEL-TECTA,TECTAc.3999C= (p.Ile1333=)
c.1306C=
n.564C=
c.4956C= (p.Ile1652=)
11g.121146010C>GCA383022971TBCEL-TECTA,TECTAc.3999C>G (p.Ile1333Met)
c.1306C>G
n.564C>G
c.4956C>G (p.Ile1652Met)
11g.121146010C>TCA6327324TBCEL-TECTA,TECTAc.3999C>T (p.Ile1333=)
c.1306C>T
n.564C>T
c.4956C>T (p.Ile1652=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146011G>ACA6327325TBCEL-TECTA,TECTAc.4000G>A (p.Asp1334Asn)
c.1307G>A
n.565G>A
c.4957G>A (p.Asp1653Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146011G>CCA383022972TBCEL-TECTA,TECTAc.4000G>C (p.Asp1334His)
c.1307G>C
n.565G>C
c.4957G>C (p.Asp1653His)
11g.121146011G=CA2004737626TBCEL-TECTA,TECTAc.4000G= (p.Asp1334=)
c.1307G=
n.565G=
c.4957G= (p.Asp1653=)
11g.121146011G>TCA383022973TBCEL-TECTA,TECTAc.4000G>T (p.Asp1334Tyr)
c.1307G>T
n.565G>T
c.4957G>T (p.Asp1653Tyr)
 dbSNP gnomAD v2 gnomAD v4
11g.121146012A>CCA383022974TBCEL-TECTA,TECTAc.4001A>C (p.Asp1334Ala)
c.1308A>C
n.566A>C
c.4958A>C (p.Asp1653Ala)
11g.121146012A>GCA383022975TBCEL-TECTA,TECTAc.4001A>G (p.Asp1334Gly)
c.1308A>G
n.566A>G
c.4958A>G (p.Asp1653Gly)
11g.121146012A>TCA383022976TBCEL-TECTA,TECTAc.4001A>T (p.Asp1334Val)
c.1308A>T
n.566A>T
c.4958A>T (p.Asp1653Val)
11g.121146013T>ACA383022977TBCEL-TECTA,TECTAc.4002T>A (p.Asp1334Glu)
c.1309T>A
n.567T>A
c.4959T>A (p.Asp1653Glu)
11g.121146013T>CCA477383150TBCEL-TECTA,TECTAc.4002T>C (p.Asp1334=)
c.1309T>C
n.567T>C
c.4959T>C (p.Asp1653=)
11g.121146013T>GCA383022978TBCEL-TECTA,TECTAc.4002T>G (p.Asp1334Glu)
c.1309T>G
n.567T>G
c.4959T>G (p.Asp1653Glu)
11g.121146014G>ACA383022979TBCEL-TECTA,TECTAc.4003G>A (p.Gly1335Arg)
c.1310G>A
n.568G>A
c.4960G>A (p.Gly1654Arg)
11g.121146014G>CCA383022980TBCEL-TECTA,TECTAc.4003G>C (p.Gly1335Arg)
c.1310G>C
n.568G>C
c.4960G>C (p.Gly1654Arg)
11g.121146014G>TCA383022981TBCEL-TECTA,TECTAc.4003G>T (p.Gly1335Trp)
c.1310G>T
n.568G>T
c.4960G>T (p.Gly1654Trp)
11g.121146018delCA2741214633TBCEL-TECTA,TECTAc.4007del (p.Gly1336AlafsTer24)
c.1314del
n.572del
c.4964del (p.Gly1655AlafsTer24)
11g.121146015G>ACA6327326TBCEL-TECTA,TECTAc.4004G>A (p.Gly1335Glu)
c.1311G>A
n.569G>A
c.4961G>A (p.Gly1654Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146015G>CCA383022983TBCEL-TECTA,TECTAc.4004G>C (p.Gly1335Ala)
c.1311G>C
n.569G>C
c.4961G>C (p.Gly1654Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121146015G=CA2004737627TBCEL-TECTA,TECTAc.4004G= (p.Gly1335=)
c.1311G=
n.569G=
c.4961G= (p.Gly1654=)
11g.121146015G>TCA383022982TBCEL-TECTA,TECTAc.4004G>T (p.Gly1335Val)
c.1311G>T
n.569G>T
c.4961G>T (p.Gly1654Val)
11g.121146016G>ACA477383151TBCEL-TECTA,TECTAc.4005G>A (p.Gly1335=)
c.1312G>A
n.570G>A
c.4962G>A (p.Gly1654=)
11g.121146016G>CCA477383152TBCEL-TECTA,TECTAc.4005G>C (p.Gly1335=)
c.1312G>C
n.570G>C
c.4962G>C (p.Gly1654=)
11g.121146016G=CA2004737628TBCEL-TECTA,TECTAc.4005G= (p.Gly1335=)
c.1312G=
n.570G=
c.4962G= (p.Gly1654=)
11g.121146016G>TCA477383153TBCEL-TECTA,TECTAc.4005G>T (p.Gly1335=)
c.1312G>T
n.570G>T
c.4962G>T (p.Gly1654=)
 dbSNP gnomAD v2 gnomAD v4
11g.121146017G>ACA383022984TBCEL-TECTA,TECTAc.4006G>A (p.Gly1336Ser)
c.1313G>A
n.571G>A
c.4963G>A (p.Gly1655Ser)
 gnomAD v4
11g.121146017G>CCA383022985TBCEL-TECTA,TECTAc.4006G>C (p.Gly1336Arg)
c.1313G>C
n.571G>C
c.4963G>C (p.Gly1655Arg)
11g.121146017G>TCA383022986TBCEL-TECTA,TECTAc.4006G>T (p.Gly1336Cys)
c.1313G>T
n.571G>T
c.4963G>T (p.Gly1655Cys)
 gnomAD v4
11g.121146018G>ACA6327327TBCEL-TECTA,TECTAc.4007G>A (p.Gly1336Asp)
c.1314G>A
n.572G>A
c.4964G>A (p.Gly1655Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146018G>CCA383022987TBCEL-TECTA,TECTAc.4007G>C (p.Gly1336Ala)
c.1314G>C
n.572G>C
c.4964G>C (p.Gly1655Ala)
11g.121146018G=CA2004737629TBCEL-TECTA,TECTAc.4007G= (p.Gly1336=)
c.1314G=
n.572G=
c.4964G= (p.Gly1655=)
11g.121146018G>TCA383022988TBCEL-TECTA,TECTAc.4007G>T (p.Gly1336Val)
c.1314G>T
n.572G>T
c.4964G>T (p.Gly1655Val)
11g.121146019C>ACA477383154TBCEL-TECTA,TECTAc.4008C>A (p.Gly1336=)
c.1315C>A
n.573C>A
c.4965C>A (p.Gly1655=)
 gnomAD v4
11g.121146019C=CA2004737630TBCEL-TECTA,TECTAc.4008C= (p.Gly1336=)
c.1315C=
n.573C=
c.4965C= (p.Gly1655=)
11g.121146019C>GCA477383155TBCEL-TECTA,TECTAc.4008C>G (p.Gly1336=)
c.1315C>G
n.573C>G
c.4965C>G (p.Gly1655=)
11g.121146019C>TCA6327328TBCEL-TECTA,TECTAc.4008C>T (p.Gly1336=)
c.1315C>T
n.573C>T
c.4965C>T (p.Gly1655=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.121146020G>ACA6327329TBCEL-TECTA,TECTAc.4009G>A (p.Ala1337Thr)
c.1316G>A
n.574G>A
c.4966G>A (p.Ala1656Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146020G>CCA383022990TBCEL-TECTA,TECTAc.4009G>C (p.Ala1337Pro)
c.1316G>C
n.574G>C
c.4966G>C (p.Ala1656Pro)
11g.121146020G=CA2004737631TBCEL-TECTA,TECTAc.4009G= (p.Ala1337=)
c.1316G=
n.574G=
c.4966G= (p.Ala1656=)
11g.121146020G>TCA383022989TBCEL-TECTA,TECTAc.4009G>T (p.Ala1337Ser)
c.1316G>T
n.574G>T
c.4966G>T (p.Ala1656Ser)
 gnomAD v4
11g.121146021C>ACA383022991TBCEL-TECTA,TECTAc.4010C>A (p.Ala1337Glu)
c.1317C>A
n.575C>A
c.4967C>A (p.Ala1656Glu)
 gnomAD v4
11g.121146021C=CA2004737632TBCEL-TECTA,TECTAc.4010C= (p.Ala1337=)
c.1317C=
n.575C=
c.4967C= (p.Ala1656=)
11g.121146021C>GCA383022992TBCEL-TECTA,TECTAc.4010C>G (p.Ala1337Gly)
c.1317C>G
n.575C>G
c.4967C>G (p.Ala1656Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.121146021C>TCA6327330TBCEL-TECTA,TECTAc.4010C>T (p.Ala1337Val)
c.1317C>T
n.575C>T
c.4967C>T (p.Ala1656Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121146022G>ACA136044TBCEL-TECTA,TECTAc.4011G>A (p.Ala1337=)
c.1318G>A
n.576G>A
c.4968G>A (p.Ala1656=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146022G>CCA477383156TBCEL-TECTA,TECTAc.4011G>C (p.Ala1337=)
c.1318G>C
n.576G>C
c.4968G>C (p.Ala1656=)
 dbSNP
11g.121146022G=CA2004737633TBCEL-TECTA,TECTAc.4011G= (p.Ala1337=)
c.1318G=
n.576G=
c.4968G= (p.Ala1656=)
11g.121146022G>TCA477383157TBCEL-TECTA,TECTAc.4011G>T (p.Ala1337=)
c.1318G>T
n.576G>T
c.4968G>T (p.Ala1656=)
 gnomAD v4
11g.121146023G>ACA383022993TBCEL-TECTA,TECTAc.4012G>A (p.Val1338Met)
c.1319G>A
n.577G>A
c.4969G>A (p.Val1657Met)
11g.121146023G>CCA383022995TBCEL-TECTA,TECTAc.4012G>C (p.Val1338Leu)
c.1319G>C
n.577G>C
c.4969G>C (p.Val1657Leu)
11g.121146023G>TCA383022994TBCEL-TECTA,TECTAc.4012G>T (p.Val1338Leu)
c.1319G>T
n.577G>T
c.4969G>T (p.Val1657Leu)
 gnomAD v4
11g.121146024T>ACA6327331TBCEL-TECTA,TECTAc.4013T>A (p.Val1338Glu)
c.1320T>A
n.578T>A
c.4970T>A (p.Val1657Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146024T>CCA383022996TBCEL-TECTA,TECTAc.4013T>C (p.Val1338Ala)
c.1320T>C
n.578T>C
c.4970T>C (p.Val1657Ala)
 gnomAD v4
11g.121146024T>GCA6327332TBCEL-TECTA,TECTAc.4013T>G (p.Val1338Gly)
c.1320T>G
n.578T>G
c.4970T>G (p.Val1657Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121146024T=CA2004737634TBCEL-TECTA,TECTAc.4013T= (p.Val1338=)
c.1320T=
n.578T=
c.4970T= (p.Val1657=)
11g.121146025G>ACA6327333TBCEL-TECTA,TECTAc.4014G>A (p.Val1338=)
c.1321G>A
n.579G>A
c.4971G>A (p.Val1657=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121146025G>CCA477383158TBCEL-TECTA,TECTAc.4014G>C (p.Val1338=)
c.1321G>C
n.579G>C
c.4971G>C (p.Val1657=)
11g.121146025G=CA2004737635TBCEL-TECTA,TECTAc.4014G= (p.Val1338=)
c.1321G=
n.579G=
c.4971G= (p.Val1657=)
11g.121146025G>TCA477383159TBCEL-TECTA,TECTAc.4014G>T (p.Val1338=)
c.1321G>T
n.579G>T
c.4971G>T (p.Val1657=)
11g.121146026C>ACA383022997TBCEL-TECTA,TECTAc.4015C>A (p.Gln1339Lys)
c.1322C>A
n.580C>A
c.4972C>A (p.Gln1658Lys)
11g.121146026C>GCA383022998TBCEL-TECTA,TECTAc.4015C>G (p.Gln1339Glu)
c.1322C>G
n.580C>G
c.4972C>G (p.Gln1658Glu)
 gnomAD v4
11g.121146026C>TCA383022999TBCEL-TECTA,TECTAc.4015C>T (p.Gln1339Ter)
c.1322C>T
n.580C>T
c.4972C>T (p.Gln1658Ter)
11g.121146027A>CCA383023000TBCEL-TECTA,TECTAc.4016A>C (p.Gln1339Pro)
c.1323A>C
n.581A>C
c.4973A>C (p.Gln1658Pro)
 gnomAD v4
11g.121146027A>GCA383023001TBCEL-TECTA,TECTAc.4016A>G (p.Gln1339Arg)
c.1323A>G
n.581A>G
c.4973A>G (p.Gln1658Arg)
 gnomAD v4
11g.121146027A>TCA383023002TBCEL-TECTA,TECTAc.4016A>T (p.Gln1339Leu)
c.1323A>T
n.581A>T
c.4973A>T (p.Gln1658Leu)
11g.121146028G>ACA477383160TBCEL-TECTA,TECTAc.4017G>A (p.Gln1339=)
c.1324G>A
n.582G>A
c.4974G>A (p.Gln1658=)
11g.121146028G>CCA383023003TBCEL-TECTA,TECTAc.4017G>C (p.Gln1339His)
c.1324G>C
n.582G>C
c.4974G>C (p.Gln1658His)
11g.121146028G>TCA383023004TBCEL-TECTA,TECTAc.4017G>T (p.Gln1339His)
c.1324G>T
n.582G>T
c.4974G>T (p.Gln1658His)
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)

Number of alleles fetched