Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.149378916A=CA1671915746TAB2n.1416A=
c.1001A= (p.Gln334=)
c.149A= (p.Gln50=)
c.905A= (p.Gln302=)
6g.149378916A>CCA365997753TAB2n.1416A>C
c.1001A>C (p.Gln334Pro)
c.149A>C (p.Gln50Pro)
c.905A>C (p.Gln302Pro)
6g.149378916A>GCA4041471TAB2n.1416A>G
c.1001A>G (p.Gln334Arg)
c.149A>G (p.Gln50Arg)
c.905A>G (p.Gln302Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149378916A>TCA365997754TAB2n.1416A>T
c.1001A>T (p.Gln334Leu)
c.149A>T (p.Gln50Leu)
c.905A>T (p.Gln302Leu)
6g.149378917A=CA1671915751TAB2n.1417A=
c.1002A= (p.Gln334=)
c.150A= (p.Gln50=)
c.906A= (p.Gln302=)
6g.149378917A>CCA365997755TAB2n.1417A>C
c.1002A>C (p.Gln334His)
c.150A>C (p.Gln50His)
c.906A>C (p.Gln302His)
 dbSNP gnomAD v3 gnomAD v4
6g.149378917A>GCA452720208TAB2n.1417A>G
c.1002A>G (p.Gln334=)
c.150A>G (p.Gln50=)
c.906A>G (p.Gln302=)
6g.149378917A>TCA365997756TAB2n.1417A>T
c.1002A>T (p.Gln334His)
c.150A>T (p.Gln50His)
c.906A>T (p.Gln302His)
6g.149378918A>CCA452720209TAB2n.1418A>C
c.1003A>C (p.Arg335=)
c.151A>C (p.Arg51=)
c.907A>C (p.Arg303=)
6g.149378918A>GCA365997757TAB2n.1418A>G
c.1003A>G (p.Arg335Gly)
c.151A>G (p.Arg51Gly)
c.907A>G (p.Arg303Gly)
 gnomAD v4
6g.149378918A>TCA365997758TAB2n.1418A>T
c.1003A>T (p.Arg335Ter)
c.151A>T (p.Arg51Ter)
c.907A>T (p.Arg303Ter)
6g.149378919G>ACA149916820TAB2n.1419G>A
c.1004G>A (p.Arg335Lys)
c.152G>A (p.Arg51Lys)
c.908G>A (p.Arg303Lys)
 dbSNP
6g.149378919G>CCA365997759TAB2n.1419G>C
c.1004G>C (p.Arg335Thr)
c.152G>C (p.Arg51Thr)
c.908G>C (p.Arg303Thr)
 COSMIC
6g.149378919G=CA1671915756TAB2n.1419G=
c.1004G= (p.Arg335=)
c.152G= (p.Arg51=)
c.908G= (p.Arg303=)
6g.149378919G>TCA365997760TAB2n.1419G>T
c.1004G>T (p.Arg335Ile)
c.152G>T (p.Arg51Ile)
c.908G>T (p.Arg303Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.149378920A>CCA365997761TAB2n.1420A>C
c.1005A>C (p.Arg335Ser)
c.153A>C (p.Arg51Ser)
c.909A>C (p.Arg303Ser)
6g.149378920A>GCA452720210TAB2n.1420A>G
c.1005A>G (p.Arg335=)
c.153A>G (p.Arg51=)
c.909A>G (p.Arg303=)
6g.149378920A>TCA365997762TAB2n.1420A>T
c.1005A>T (p.Arg335Ser)
c.153A>T (p.Arg51Ser)
c.909A>T (p.Arg303Ser)
6g.149378921A>CCA365997765TAB2n.1421A>C
c.1006A>C (p.Asn336His)
c.154A>C (p.Asn52His)
c.910A>C (p.Asn304His)
6g.149378921A>GCA365997763TAB2n.1421A>G
c.1006A>G (p.Asn336Asp)
c.154A>G (p.Asn52Asp)
c.910A>G (p.Asn304Asp)
6g.149378921A>TCA365997764TAB2n.1421A>T
c.1006A>T (p.Asn336Tyr)
c.154A>T (p.Asn52Tyr)
c.910A>T (p.Asn304Tyr)
6g.149378922A>CCA365997766TAB2n.1422A>C
c.1007A>C (p.Asn336Thr)
c.155A>C (p.Asn52Thr)
c.911A>C (p.Asn304Thr)
6g.149378922A>GCA365997767TAB2n.1422A>G
c.1007A>G (p.Asn336Ser)
c.155A>G (p.Asn52Ser)
c.911A>G (p.Asn304Ser)
6g.149378922A>TCA365997768TAB2n.1422A>T
c.1007A>T (p.Asn336Ile)
c.155A>T (p.Asn52Ile)
c.911A>T (p.Asn304Ile)
6g.149378923T>ACA365997769TAB2n.1423T>A
c.1008T>A (p.Asn336Lys)
c.156T>A (p.Asn52Lys)
c.912T>A (p.Asn304Lys)
6g.149378923T>CCA452720211TAB2n.1423T>C
c.1008T>C (p.Asn336=)
c.156T>C (p.Asn52=)
c.912T>C (p.Asn304=)
6g.149378923T>GCA365997770TAB2n.1423T>G
c.1008T>G (p.Asn336Lys)
c.156T>G (p.Asn52Lys)
c.912T>G (p.Asn304Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.149378923T=CA1671915762TAB2n.1423T=
c.1008T= (p.Asn336=)
c.156T= (p.Asn52=)
c.912T= (p.Asn304=)
6g.149378924A>CCA365997771TAB2n.1424A>C
c.1009A>C (p.Asn337His)
c.157A>C (p.Asn53His)
c.913A>C (p.Asn305His)
6g.149378924A>GCA365997773TAB2n.1424A>G
c.1009A>G (p.Asn337Asp)
c.157A>G (p.Asn53Asp)
c.913A>G (p.Asn305Asp)
6g.149378924A>TCA365997772TAB2n.1424A>T
c.1009A>T (p.Asn337Tyr)
c.157A>T (p.Asn53Tyr)
c.913A>T (p.Asn305Tyr)
6g.149378925A=CA1671915765TAB2n.1425A=
c.1010A= (p.Asn337=)
c.158A= (p.Asn53=)
c.914A= (p.Asn305=)
6g.149378925A>CCA365997774TAB2n.1425A>C
c.1010A>C (p.Asn337Thr)
c.158A>C (p.Asn53Thr)
c.914A>C (p.Asn305Thr)
6g.149378925A>GCA365997775TAB2n.1425A>G
c.1010A>G (p.Asn337Ser)
c.158A>G (p.Asn53Ser)
c.914A>G (p.Asn305Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.149378925A>TCA365997776TAB2n.1425A>T
c.1010A>T (p.Asn337Ile)
c.158A>T (p.Asn53Ile)
c.914A>T (p.Asn305Ile)
6g.149378926T>ACA365997777TAB2n.1426T>A
c.1011T>A (p.Asn337Lys)
c.159T>A (p.Asn53Lys)
c.915T>A (p.Asn305Lys)
6g.149378926T>CCA452720212TAB2n.1426T>C
c.1011T>C (p.Asn337=)
c.159T>C (p.Asn53=)
c.915T>C (p.Asn305=)
 dbSNP
6g.149378926T>GCA365997778TAB2n.1426T>G
c.1011T>G (p.Asn337Lys)
c.159T>G (p.Asn53Lys)
c.915T>G (p.Asn305Lys)
6g.149378926T=CA1671915767TAB2n.1426T=
c.1011T= (p.Asn337=)
c.159T= (p.Asn53=)
c.915T= (p.Asn305=)
6g.149378927T>ACA365997779TAB2n.1427T>A
c.1012T>A (p.Ser338Thr)
c.160T>A (p.Ser54Thr)
c.916T>A (p.Ser306Thr)
6g.149378927T>CCA365997780TAB2n.1427T>C
c.1012T>C (p.Ser338Pro)
c.160T>C (p.Ser54Pro)
c.916T>C (p.Ser306Pro)
6g.149378927T>GCA365997781TAB2n.1427T>G
c.1012T>G (p.Ser338Ala)
c.160T>G (p.Ser54Ala)
c.916T>G (p.Ser306Ala)
6g.149378928C>ACA365997782TAB2n.1428C>A
c.1013C>A (p.Ser338Tyr)
c.161C>A (p.Ser54Tyr)
c.917C>A (p.Ser306Tyr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.149378928C=CA1671915769TAB2n.1428C=
c.1013C= (p.Ser338=)
c.161C= (p.Ser54=)
c.917C= (p.Ser306=)
6g.149378928C>GCA365997783TAB2n.1428C>G
c.1013C>G (p.Ser338Cys)
c.161C>G (p.Ser54Cys)
c.917C>G (p.Ser306Cys)
6g.149378928C>TCA365997784TAB2n.1428C>T
c.1013C>T (p.Ser338Phe)
c.161C>T (p.Ser54Phe)
c.917C>T (p.Ser306Phe)
6g.149378929T>ACA452720213TAB2n.1429T>A
c.1014T>A (p.Ser338=)
c.162T>A (p.Ser54=)
c.918T>A (p.Ser306=)
6g.149378929T>CCA4041472TAB2n.1429T>C
c.1014T>C (p.Ser338=)
c.162T>C (p.Ser54=)
c.918T>C (p.Ser306=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149378929T>GCA452720214TAB2n.1429T>G
c.1014T>G (p.Ser338=)
c.162T>G (p.Ser54=)
c.918T>G (p.Ser306=)
6g.149378929T=CA1671915772TAB2n.1429T=
c.1014T= (p.Ser338=)
c.162T= (p.Ser54=)
c.918T= (p.Ser306=)
6g.149378930T>ACA365997785TAB2n.1430T>A
c.1015T>A (p.Ser339Thr)
c.163T>A (p.Ser55Thr)
c.919T>A (p.Ser307Thr)
 gnomAD v4
6g.149378930T>CCA365997787TAB2n.1430T>C
c.1015T>C (p.Ser339Pro)
c.163T>C (p.Ser55Pro)
c.919T>C (p.Ser307Pro)
6g.149378930T>GCA365997786TAB2n.1430T>G
c.1015T>G (p.Ser339Ala)
c.163T>G (p.Ser55Ala)
c.919T>G (p.Ser307Ala)
6g.149378931C>ACA365997788TAB2n.1431C>A
c.1016C>A (p.Ser339Ter)
c.164C>A (p.Ser55Ter)
c.920C>A (p.Ser307Ter)
6g.149378931C>GCA365997789TAB2n.1431C>G
c.1016C>G (p.Ser339Ter)
c.164C>G (p.Ser55Ter)
c.920C>G (p.Ser307Ter)
6g.149378931C>TCA365997790TAB2n.1431C>T
c.1016C>T (p.Ser339Leu)
c.164C>T (p.Ser55Leu)
c.920C>T (p.Ser307Leu)
6g.149378932A>CCA452720217TAB2n.1432A>C
c.1017A>C (p.Ser339=)
c.165A>C (p.Ser55=)
c.921A>C (p.Ser307=)
6g.149378932A>GCA452720216TAB2n.1432A>G
c.1017A>G (p.Ser339=)
c.165A>G (p.Ser55=)
c.921A>G (p.Ser307=)
6g.149378932A>TCA452720215TAB2n.1432A>T
c.1017A>T (p.Ser339=)
c.165A>T (p.Ser55=)
c.921A>T (p.Ser307=)
6g.149378933A>CCA365997791TAB2n.1433A>C
c.1018A>C (p.Lys340Gln)
c.166A>C (p.Lys56Gln)
c.922A>C (p.Lys308Gln)
 gnomAD v4
6g.149378933A>GCA365997792TAB2n.1433A>G
c.1018A>G (p.Lys340Glu)
c.166A>G (p.Lys56Glu)
c.922A>G (p.Lys308Glu)
6g.149378933A>TCA365997793TAB2n.1433A>T
c.1018A>T (p.Lys340Ter)
c.166A>T (p.Lys56Ter)
c.922A>T (p.Lys308Ter)
6g.149378934A>CCA365997796TAB2n.1434A>C
c.1019A>C (p.Lys340Thr)
c.167A>C (p.Lys56Thr)
c.923A>C (p.Lys308Thr)
6g.149378934A>GCA365997795TAB2n.1434A>G
c.1019A>G (p.Lys340Arg)
c.167A>G (p.Lys56Arg)
c.923A>G (p.Lys308Arg)
6g.149378934A>TCA365997794TAB2n.1434A>T
c.1019A>T (p.Lys340Ile)
c.167A>T (p.Lys56Ile)
c.923A>T (p.Lys308Ile)
6g.149378935A>CCA365997797TAB2n.1435A>C
c.1020A>C (p.Lys340Asn)
c.168A>C (p.Lys56Asn)
c.924A>C (p.Lys308Asn)
6g.149378935A>GCA452720218TAB2n.1435A>G
c.1020A>G (p.Lys340=)
c.168A>G (p.Lys56=)
c.924A>G (p.Lys308=)
6g.149378935A>TCA365997798TAB2n.1435A>T
c.1020A>T (p.Lys340Asn)
c.168A>T (p.Lys56Asn)
c.924A>T (p.Lys308Asn)
6g.149378936C>ACA365997799TAB2n.1436C>A
c.1021C>A (p.Leu341Met)
c.169C>A (p.Leu57Met)
c.925C>A (p.Leu309Met)
 dbSNP
6g.149378936C=CA1671915775TAB2n.1436C=
c.1021C= (p.Leu341=)
c.169C= (p.Leu57=)
c.925C= (p.Leu309=)
6g.149378936C>GCA365997800TAB2n.1436C>G
c.1021C>G (p.Leu341Val)
c.169C>G (p.Leu57Val)
c.925C>G (p.Leu309Val)
6g.149378936C>TCA452720219TAB2n.1436C>T
c.1021C>T (p.Leu341=)
c.169C>T (p.Leu57=)
c.925C>T (p.Leu309=)
6g.149378937T>ACA365997801TAB2n.1437T>A
c.1022T>A (p.Leu341Gln)
c.170T>A (p.Leu57Gln)
c.926T>A (p.Leu309Gln)
6g.149378937T>CCA365997802TAB2n.1437T>C
c.1022T>C (p.Leu341Pro)
c.170T>C (p.Leu57Pro)
c.926T>C (p.Leu309Pro)
6g.149378937T>GCA365997803TAB2n.1437T>G
c.1022T>G (p.Leu341Arg)
c.170T>G (p.Leu57Arg)
c.926T>G (p.Leu309Arg)
6g.149378938G>ACA452720220TAB2n.1438G>A
c.1023G>A (p.Leu341=)
c.171G>A (p.Leu57=)
c.927G>A (p.Leu309=)
6g.149378938G>CCA452720221TAB2n.1438G>C
c.1023G>C (p.Leu341=)
c.171G>C (p.Leu57=)
c.927G>C (p.Leu309=)
 gnomAD v4
6g.149378938G>TCA452720222TAB2n.1438G>T
c.1023G>T (p.Leu341=)
c.171G>T (p.Leu57=)
c.927G>T (p.Leu309=)
6g.149378939C>ACA365997804TAB2n.1439C>A
c.1024C>A (p.Arg342Ser)
c.172C>A (p.Arg58Ser)
c.928C>A (p.Arg310Ser)
6g.149378939C=CA1671915778TAB2n.1439C=
c.1024C= (p.Arg342=)
c.172C= (p.Arg58=)
c.928C= (p.Arg310=)
6g.149378939C>GCA365997805TAB2n.1439C>G
c.1024C>G (p.Arg342Gly)
c.172C>G (p.Arg58Gly)
c.928C>G (p.Arg310Gly)
6g.149378939C>TCA4041473TAB2n.1439C>T
c.1024C>T (p.Arg342Cys)
c.172C>T (p.Arg58Cys)
c.928C>T (p.Arg310Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.149378940G>ACA4041474TAB2n.1440G>A
c.1025G>A (p.Arg342His)
c.173G>A (p.Arg58His)
c.929G>A (p.Arg310His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149378940G>CCA365997806TAB2n.1440G>C
c.1025G>C (p.Arg342Pro)
c.173G>C (p.Arg58Pro)
c.929G>C (p.Arg310Pro)
6g.149378940G=CA1671915782TAB2n.1440G=
c.1025G= (p.Arg342=)
c.173G= (p.Arg58=)
c.929G= (p.Arg310=)
6g.149378940G>TCA149916853TAB2n.1440G>T
c.1025G>T (p.Arg342Leu)
c.173G>T (p.Arg58Leu)
c.929G>T (p.Arg310Leu)
 dbSNP gnomAD v4
6g.149378941T>ACA452720223TAB2n.1441T>A
c.1026T>A (p.Arg342=)
c.174T>A (p.Arg58=)
c.930T>A (p.Arg310=)
6g.149378941T>CCA452720224TAB2n.1441T>C
c.1026T>C (p.Arg342=)
c.174T>C (p.Arg58=)
c.930T>C (p.Arg310=)
6g.149378941T>GCA452720225TAB2n.1441T>G
c.1026T>G (p.Arg342=)
c.174T>G (p.Arg58=)
c.930T>G (p.Arg310=)
6g.149378942T>ACA365997807TAB2n.1442T>A
c.1027T>A (p.Ser343Thr)
c.175T>A (p.Ser59Thr)
c.931T>A (p.Ser311Thr)
6g.149378942T>CCA365997808TAB2n.1442T>C
c.1027T>C (p.Ser343Pro)
c.175T>C (p.Ser59Pro)
c.931T>C (p.Ser311Pro)
6g.149378942T>GCA365997809TAB2n.1442T>G
c.1027T>G (p.Ser343Ala)
c.175T>G (p.Ser59Ala)
c.931T>G (p.Ser311Ala)
6g.149378943C>ACA365997810TAB2n.1443C>A
c.1028C>A (p.Ser343Tyr)
c.176C>A (p.Ser59Tyr)
c.932C>A (p.Ser311Tyr)
 gnomAD v4
6g.149378943C>GCA365997811TAB2n.1443C>G
c.1028C>G (p.Ser343Cys)
c.176C>G (p.Ser59Cys)
c.932C>G (p.Ser311Cys)
6g.149378943C>TCA365997812TAB2n.1443C>T
c.1028C>T (p.Ser343Phe)
c.176C>T (p.Ser59Phe)
c.932C>T (p.Ser311Phe)
6g.149378944T>ACA452720226TAB2n.1444T>A
c.1029T>A (p.Ser343=)
c.177T>A (p.Ser59=)
c.933T>A (p.Ser311=)
6g.149378944T>CCA452720227TAB2n.1444T>C
c.1029T>C (p.Ser343=)
c.177T>C (p.Ser59=)
c.933T>C (p.Ser311=)
6g.149378944T>GCA452720228TAB2n.1444T>G
c.1029T>G (p.Ser343=)
c.177T>G (p.Ser59=)
c.933T>G (p.Ser311=)
6g.149378945T>ACA365997813TAB2n.1445T>A
c.1030T>A (p.Ser344Thr)
c.178T>A (p.Ser60Thr)
c.934T>A (p.Ser312Thr)
 gnomAD v4
6g.149378945T>CCA365997814TAB2n.1445T>C
c.1030T>C (p.Ser344Pro)
c.178T>C (p.Ser60Pro)
c.934T>C (p.Ser312Pro)
6g.149378945T>GCA365997815TAB2n.1445T>G
c.1030T>G (p.Ser344Ala)
c.178T>G (p.Ser60Ala)
c.934T>G (p.Ser312Ala)
6g.149378946C>ACA365997816TAB2n.1446C>A
c.1031C>A (p.Ser344Tyr)
c.179C>A (p.Ser60Tyr)
c.935C>A (p.Ser312Tyr)
6g.149378946C=CA1671915787TAB2n.1446C=
c.1031C= (p.Ser344=)
c.179C= (p.Ser60=)
c.935C= (p.Ser312=)
6g.149378946C>GCA365997817TAB2n.1446C>G
c.1031C>G (p.Ser344Cys)
c.179C>G (p.Ser60Cys)
c.935C>G (p.Ser312Cys)
6g.149378946C>TCA149916872TAB2n.1446C>T
c.1031C>T (p.Ser344Phe)
c.179C>T (p.Ser60Phe)
c.935C>T (p.Ser312Phe)
 dbSNP
6g.149378947T>ACA452720229TAB2n.1447T>A
c.1032T>A (p.Ser344=)
c.180T>A (p.Ser60=)
c.936T>A (p.Ser312=)
6g.149378947T>CCA452720230TAB2n.1447T>C
c.1032T>C (p.Ser344=)
c.180T>C (p.Ser60=)
c.936T>C (p.Ser312=)
6g.149378947T>GCA452720231TAB2n.1447T>G
c.1032T>G (p.Ser344=)
c.180T>G (p.Ser60=)
c.936T>G (p.Ser312=)
6g.149378948G>ACA365997818TAB2n.1448G>A
c.1033G>A (p.Gly345Arg)
c.181G>A (p.Gly61Arg)
c.937G>A (p.Gly313Arg)
6g.149378948G>CCA365997819TAB2n.1448G>C
c.1033G>C (p.Gly345Arg)
c.181G>C (p.Gly61Arg)
c.937G>C (p.Gly313Arg)
6g.149378948G>TCA365997820TAB2n.1448G>T
c.1033G>T (p.Gly345Ter)
c.181G>T (p.Gly61Ter)
c.937G>T (p.Gly313Ter)
6g.149378949G>ACA365997821TAB2n.1449G>A
c.1034G>A (p.Gly345Glu)
c.182G>A (p.Gly61Glu)
c.938G>A (p.Gly313Glu)
6g.149378949G>CCA365997822TAB2n.1449G>C
c.1034G>C (p.Gly345Ala)
c.182G>C (p.Gly61Ala)
c.938G>C (p.Gly313Ala)
6g.149378949G>TCA365997823TAB2n.1449G>T
c.1034G>T (p.Gly345Val)
c.182G>T (p.Gly61Val)
c.938G>T (p.Gly313Val)
6g.149378950A=CA1671915789TAB2n.1450A=
c.1035A= (p.Gly345=)
c.183A= (p.Gly61=)
c.939A= (p.Gly313=)
6g.149378950A>CCA452720232TAB2n.1450A>C
c.1035A>C (p.Gly345=)
c.183A>C (p.Gly61=)
c.939A>C (p.Gly313=)
6g.149378950A>GCA149916881TAB2n.1450A>G
c.1035A>G (p.Gly345=)
c.183A>G (p.Gly61=)
c.939A>G (p.Gly313=)
 dbSNP gnomAD v3 gnomAD v4
6g.149378950A>TCA452720233TAB2n.1450A>T
c.1035A>T (p.Gly345=)
c.183A>T (p.Gly61=)
c.939A>T (p.Gly313=)
6g.149378951C>ACA365997826TAB2n.1451C>A
c.1036C>A (p.Pro346Thr)
c.184C>A (p.Pro62Thr)
c.940C>A (p.Pro314Thr)
6g.149378951C>GCA365997824TAB2n.1451C>G
c.1036C>G (p.Pro346Ala)
c.184C>G (p.Pro62Ala)
c.940C>G (p.Pro314Ala)
6g.149378951C>TCA365997825TAB2n.1451C>T
c.1036C>T (p.Pro346Ser)
c.184C>T (p.Pro62Ser)
c.940C>T (p.Pro314Ser)
6g.149378952C>ACA149916907TAB2n.1452C>A
c.1037C>A (p.Pro346His)
c.185C>A (p.Pro62His)
c.941C>A (p.Pro314His)
 dbSNP
6g.149378952C=CA1671915790TAB2n.1452C=
c.1037C= (p.Pro346=)
c.185C= (p.Pro62=)
c.941C= (p.Pro314=)
6g.149378952C>GCA365997827TAB2n.1452C>G
c.1037C>G (p.Pro346Arg)
c.185C>G (p.Pro62Arg)
c.941C>G (p.Pro314Arg)
6g.149378952C>TCA365997828TAB2n.1452C>T
c.1037C>T (p.Pro346Leu)
c.185C>T (p.Pro62Leu)
c.941C>T (p.Pro314Leu)
 ClinVar
6g.149378953T>ACA452720234TAB2n.1453T>A
c.1038T>A (p.Pro346=)
c.186T>A (p.Pro62=)
c.942T>A (p.Pro314=)
6g.149378953T>CCA452720236TAB2n.1453T>C
c.1038T>C (p.Pro346=)
c.186T>C (p.Pro62=)
c.942T>C (p.Pro314=)
6g.149378953T>GCA452720235TAB2n.1453T>G
c.1038T>G (p.Pro346=)
c.186T>G (p.Pro62=)
c.942T>G (p.Pro314=)
 gnomAD v4
6g.149378954C>ACA452720237TAB2n.1454C>A
c.1039C>A (p.Arg347=)
c.187C>A (p.Arg63=)
c.943C>A (p.Arg315=)
6g.149378954C=CA1671915795TAB2n.1454C=
c.1039C= (p.Arg347=)
c.187C= (p.Arg63=)
c.943C= (p.Arg315=)
6g.149378954C>GCA365997829TAB2n.1454C>G
c.1039C>G (p.Arg347Gly)
c.187C>G (p.Arg63Gly)
c.943C>G (p.Arg315Gly)
6g.149378954C>TCA16042659TAB2n.1454C>T
c.1039C>T (p.Arg347Ter)
c.187C>T (p.Arg63Ter)
c.943C>T (p.Arg315Ter)
 ClinVar dbSNP
6g.149378955G>ACA4041475TAB2n.1455G>A
c.1040G>A (p.Arg347Gln)
c.188G>A (p.Arg63Gln)
c.944G>A (p.Arg315Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149378955G>CCA365997831TAB2n.1455G>C
c.1040G>C (p.Arg347Pro)
c.188G>C (p.Arg63Pro)
c.944G>C (p.Arg315Pro)
6g.149378955G=CA1671915802TAB2n.1455G=
c.1040G= (p.Arg347=)
c.188G= (p.Arg63=)
c.944G= (p.Arg315=)
6g.149378955G>TCA365997830TAB2n.1455G>T
c.1040G>T (p.Arg347Leu)
c.188G>T (p.Arg63Leu)
c.944G>T (p.Arg315Leu)
6g.149378956A=CA1671915805TAB2n.1456A=
c.1041A= (p.Arg347=)
c.189A= (p.Arg63=)
c.945A= (p.Arg315=)
6g.149378956A>CCA452720238TAB2n.1456A>C
c.1041A>C (p.Arg347=)
c.189A>C (p.Arg63=)
c.945A>C (p.Arg315=)
6g.149378956A>GCA452720239TAB2n.1456A>G
c.1041A>G (p.Arg347=)
c.189A>G (p.Arg63=)
c.945A>G (p.Arg315=)
 gnomAD v4
6g.149378956A>TCA452720240TAB2n.1456A>T
c.1041A>T (p.Arg347=)
c.189A>T (p.Arg63=)
c.945A>T (p.Arg315=)
 dbSNP
6g.149378957A>CCA365997832TAB2n.1457A>C
c.1042A>C (p.Thr348Pro)
c.190A>C (p.Thr64Pro)
c.946A>C (p.Thr316Pro)
6g.149378957A>GCA365997833TAB2n.1457A>G
c.1042A>G (p.Thr348Ala)
c.190A>G (p.Thr64Ala)
c.946A>G (p.Thr316Ala)
 gnomAD v4
6g.149378957A>TCA365997834TAB2n.1457A>T
c.1042A>T (p.Thr348Ser)
c.190A>T (p.Thr64Ser)
c.946A>T (p.Thr316Ser)
6g.149378958C>ACA365997835TAB2n.1458C>A
c.1043C>A (p.Thr348Asn)
c.191C>A (p.Thr64Asn)
c.947C>A (p.Thr316Asn)
6g.149378958C=CA1671915808TAB2n.1458C=
c.1043C= (p.Thr348=)
c.191C= (p.Thr64=)
c.947C= (p.Thr316=)
6g.149378958C>GCA365997836TAB2n.1458C>G
c.1043C>G (p.Thr348Ser)
c.191C>G (p.Thr64Ser)
c.947C>G (p.Thr316Ser)
6g.149378958C>TCA4041476TAB2n.1458C>T
c.1043C>T (p.Thr348Ile)
c.191C>T (p.Thr64Ile)
c.947C>T (p.Thr316Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.149378959C>ACA4041477TAB2n.1459C>A
c.1044C>A (p.Thr348=)
c.192C>A (p.Thr64=)
c.948C>A (p.Thr316=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149378959C=CA1671915812TAB2n.1459C=
c.1044C= (p.Thr348=)
c.192C= (p.Thr64=)
c.948C= (p.Thr316=)
6g.149378959C>GCA452720241TAB2n.1459C>G
c.1044C>G (p.Thr348=)
c.192C>G (p.Thr64=)
c.948C>G (p.Thr316=)
6g.149378959C>TCA452720242TAB2n.1459C>T
c.1044C>T (p.Thr348=)
c.192C>T (p.Thr64=)
c.948C>T (p.Thr316=)
 dbSNP gnomAD v2 gnomAD v4
6g.149378960T>ACA365997837TAB2n.1460T>A
c.1045T>A (p.Ser349Thr)
c.193T>A (p.Ser65Thr)
c.949T>A (p.Ser317Thr)
6g.149378960T>CCA365997838TAB2n.1460T>C
c.1045T>C (p.Ser349Pro)
c.193T>C (p.Ser65Pro)
c.949T>C (p.Ser317Pro)
6g.149378960T>GCA365997839TAB2n.1460T>G
c.1045T>G (p.Ser349Ala)
c.193T>G (p.Ser65Ala)
c.949T>G (p.Ser317Ala)
6g.149378961C>ACA365997840TAB2n.1461C>A
c.1046C>A (p.Ser349Tyr)
c.194C>A (p.Ser65Tyr)
c.950C>A (p.Ser317Tyr)
6g.149378961C>GCA365997842TAB2n.1461C>G
c.1046C>G (p.Ser349Cys)
c.194C>G (p.Ser65Cys)
c.950C>G (p.Ser317Cys)
6g.149378961C>TCA365997841TAB2n.1461C>T
c.1046C>T (p.Ser349Phe)
c.194C>T (p.Ser65Phe)
c.950C>T (p.Ser317Phe)
6g.149378962C>ACA452720243TAB2n.1462C>A
c.1047C>A (p.Ser349=)
c.195C>A (p.Ser65=)
c.951C>A (p.Ser317=)
6g.149378962C>GCA452720244TAB2n.1462C>G
c.1047C>G (p.Ser349=)
c.195C>G (p.Ser65=)
c.951C>G (p.Ser317=)
6g.149378962C>TCA452720245TAB2n.1462C>T
c.1047C>T (p.Ser349=)
c.195C>T (p.Ser65=)
c.951C>T (p.Ser317=)
 ClinVar gnomAD v4
6g.149378963A=CA1671915818TAB2n.1463A=
c.1048A= (p.Ser350=)
c.196A= (p.Ser66=)
c.952A= (p.Ser318=)
6g.149378963A>CCA365997843TAB2n.1463A>C
c.1048A>C (p.Ser350Arg)
c.196A>C (p.Ser66Arg)
c.952A>C (p.Ser318Arg)
 dbSNP
6g.149378963A>GCA365997845TAB2n.1463A>G
c.1048A>G (p.Ser350Gly)
c.196A>G (p.Ser66Gly)
c.952A>G (p.Ser318Gly)
 gnomAD v4
6g.149378963A>TCA365997844TAB2n.1463A>T
c.1048A>T (p.Ser350Cys)
c.196A>T (p.Ser66Cys)
c.952A>T (p.Ser318Cys)
6g.149378964G>ACA365997846TAB2n.1464G>A
c.1049G>A (p.Ser350Asn)
c.197G>A (p.Ser66Asn)
c.953G>A (p.Ser318Asn)
6g.149378964G>CCA365997847TAB2n.1464G>C
c.1049G>C (p.Ser350Thr)
c.197G>C (p.Ser66Thr)
c.953G>C (p.Ser318Thr)
6g.149378964G>TCA365997848TAB2n.1464G>T
c.1049G>T (p.Ser350Ile)
c.197G>T (p.Ser66Ile)
c.953G>T (p.Ser318Ile)
6g.149378965C>ACA365997849TAB2n.1465C>A
c.1050C>A (p.Ser350Arg)
c.198C>A (p.Ser66Arg)
c.954C>A (p.Ser318Arg)
6g.149378965C>GCA365997850TAB2n.1465C>G
c.1050C>G (p.Ser350Arg)
c.198C>G (p.Ser66Arg)
c.954C>G (p.Ser318Arg)
6g.149378965C>TCA452720246TAB2n.1465C>T
c.1050C>T (p.Ser350=)
c.198C>T (p.Ser66=)
c.954C>T (p.Ser318=)
6g.149378966A>CCA365997853TAB2n.1466A>C
c.1051A>C (p.Thr351Pro)
c.199A>C (p.Thr67Pro)
c.955A>C (p.Thr319Pro)
6g.149378966A>GCA365997852TAB2n.1466A>G
c.1051A>G (p.Thr351Ala)
c.199A>G (p.Thr67Ala)
c.955A>G (p.Thr319Ala)
6g.149378966A>TCA365997851TAB2n.1466A>T
c.1051A>T (p.Thr351Ser)
c.199A>T (p.Thr67Ser)
c.955A>T (p.Thr319Ser)
6g.149378966_149378972delinsACTTCCTCA1671915820TAB2n.1466_1472delinsACTTCCT
c.1051_1057delinsACTTCCT (p.Thr351=)
c.199_205delinsACTTCCT (p.Thr67=)
c.955_961delinsACTTCCT (p.Thr319=)
6g.149378967C>ACA365997854TAB2n.1467C>A
c.1052C>A (p.Thr351Asn)
c.200C>A (p.Thr67Asn)
c.956C>A (p.Thr319Asn)
6g.149378967C>GCA365997855TAB2n.1467C>G
c.1052C>G (p.Thr351Ser)
c.200C>G (p.Thr67Ser)
c.956C>G (p.Thr319Ser)
6g.149378967C>TCA365997856TAB2n.1467C>T
c.1052C>T (p.Thr351Ile)
c.200C>T (p.Thr67Ile)
c.956C>T (p.Thr319Ile)
6g.149378971_149378976delCA1671915823TAB2n.1471_1476del
c.1056_1061del (p.Ser353_Ser354del)
c.204_209del (p.Ser69_Ser70del)
c.960_965del (p.Ser321_Ser322del)
 dbSNP gnomAD v4
6g.149378968T>ACA452720249TAB2n.1468T>A
c.1053T>A (p.Thr351=)
c.201T>A (p.Thr67=)
c.957T>A (p.Thr319=)
6g.149378968T>CCA452720248TAB2n.1468T>C
c.1053T>C (p.Thr351=)
c.201T>C (p.Thr67=)
c.957T>C (p.Thr319=)
6g.149378968T>GCA452720247TAB2n.1468T>G
c.1053T>G (p.Thr351=)
c.201T>G (p.Thr67=)
c.957T>G (p.Thr319=)
6g.149378969T>ACA365997857TAB2n.1469T>A
c.1054T>A (p.Ser352Thr)
c.202T>A (p.Ser68Thr)
c.958T>A (p.Ser320Thr)
6g.149378969T>CCA365997858TAB2n.1469T>C
c.1054T>C (p.Ser352Pro)
c.202T>C (p.Ser68Pro)
c.958T>C (p.Ser320Pro)
6g.149378969T>GCA365997859TAB2n.1469T>G
c.1054T>G (p.Ser352Ala)
c.202T>G (p.Ser68Ala)
c.958T>G (p.Ser320Ala)
6g.149378971_149378973delCA2522052579TAB2n.1471_1473del
c.1056_1058del (p.Ser353del)
c.204_206del (p.Ser69del)
c.960_962del (p.Ser321del)
6g.149378970C>ACA365997862TAB2n.1470C>A
c.1055C>A (p.Ser352Tyr)
c.203C>A (p.Ser68Tyr)
c.959C>A (p.Ser320Tyr)
6g.149378970C=CA1671915825TAB2n.1470C=
c.1055C= (p.Ser352=)
c.203C= (p.Ser68=)
c.959C= (p.Ser320=)
6g.149378970C>GCA365997860TAB2n.1470C>G
c.1055C>G (p.Ser352Cys)
c.203C>G (p.Ser68Cys)
c.959C>G (p.Ser320Cys)
 dbSNP gnomAD v4
6g.149378970C>TCA365997861TAB2n.1470C>T
c.1055C>T (p.Ser352Phe)
c.203C>T (p.Ser68Phe)
c.959C>T (p.Ser320Phe)
 dbSNP gnomAD v2 gnomAD v4
6g.149378971delCA2580075186TAB2n.1471del
c.1056del (p.Ser353LeufsTer8)
c.204del (p.Ser69LeufsTer8)
c.960del (p.Ser321LeufsTer8)
 ClinVar
6g.149378971C>ACA452720250TAB2n.1471C>A
c.1056C>A (p.Ser352=)
c.204C>A (p.Ser68=)
c.960C>A (p.Ser320=)
 gnomAD v4
6g.149378971C>GCA452720252TAB2n.1471C>G
c.1056C>G (p.Ser352=)
c.204C>G (p.Ser68=)
c.960C>G (p.Ser320=)
 gnomAD v4
6g.149378971C>TCA452720251TAB2n.1471C>T
c.1056C>T (p.Ser352=)
c.204C>T (p.Ser68=)
c.960C>T (p.Ser320=)
6g.149378972T>ACA365997863TAB2n.1472T>A
c.1057T>A (p.Ser353Thr)
c.205T>A (p.Ser69Thr)
c.961T>A (p.Ser321Thr)
6g.149378972T>CCA365997864TAB2n.1472T>C
c.1057T>C (p.Ser353Pro)
c.205T>C (p.Ser69Pro)
c.961T>C (p.Ser321Pro)
6g.149378972T>GCA365997865TAB2n.1472T>G
c.1057T>G (p.Ser353Ala)
c.205T>G (p.Ser69Ala)
c.961T>G (p.Ser321Ala)
6g.149378973C>ACA365997866TAB2n.1473C>A
c.1058C>A (p.Ser353Tyr)
c.206C>A (p.Ser69Tyr)
c.962C>A (p.Ser321Tyr)
6g.149378973C=CA1671915828TAB2n.1473C=
c.1058C= (p.Ser353=)
c.206C= (p.Ser69=)
c.962C= (p.Ser321=)
6g.149378973C>GCA365997867TAB2n.1473C>G
c.1058C>G (p.Ser353Cys)
c.206C>G (p.Ser69Cys)
c.962C>G (p.Ser321Cys)
 dbSNP
6g.149378973C>TCA4041478TAB2n.1473C>T
c.1058C>T (p.Ser353Phe)
c.206C>T (p.Ser69Phe)
c.962C>T (p.Ser321Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149378974T>ACA452720253TAB2n.1474T>A
c.1059T>A (p.Ser353=)
c.207T>A (p.Ser69=)
c.963T>A (p.Ser321=)
6g.149378974T>CCA452720254TAB2n.1474T>C
c.1059T>C (p.Ser353=)
c.207T>C (p.Ser69=)
c.963T>C (p.Ser321=)
6g.149378974T>GCA452720255TAB2n.1474T>G
c.1059T>G (p.Ser353=)
c.207T>G (p.Ser69=)
c.963T>G (p.Ser321=)
6g.149378975T>ACA365997868TAB2n.1475T>A
c.1060T>A (p.Ser354Thr)
c.208T>A (p.Ser70Thr)
c.964T>A (p.Ser322Thr)
6g.149378975T>CCA365997869TAB2n.1475T>C
c.1060T>C (p.Ser354Pro)
c.208T>C (p.Ser70Pro)
c.964T>C (p.Ser322Pro)
6g.149378975T>GCA365997870TAB2n.1475T>G
c.1060T>G (p.Ser354Ala)
c.208T>G (p.Ser70Ala)
c.964T>G (p.Ser322Ala)
6g.149378976C>ACA365997871TAB2n.1476C>A
c.1061C>A (p.Ser354Ter)
c.209C>A (p.Ser70Ter)
c.965C>A (p.Ser322Ter)
6g.149378976C=CA1671915831TAB2n.1476C=
c.1061C= (p.Ser354=)
c.209C= (p.Ser70=)
c.965C= (p.Ser322=)
6g.149378976C>GCA365997872TAB2n.1476C>G
c.1061C>G (p.Ser354Ter)
c.209C>G (p.Ser70Ter)
c.965C>G (p.Ser322Ter)
6g.149378976C>TCA365997873TAB2n.1476C>T
c.1061C>T (p.Ser354Leu)
c.209C>T (p.Ser70Leu)
c.965C>T (p.Ser322Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.149378977A=CA1671915834TAB2n.1477A=
c.1062A= (p.Ser354=)
c.210A= (p.Ser70=)
c.966A= (p.Ser322=)
6g.149378977A>CCA452720256TAB2n.1477A>C
c.1062A>C (p.Ser354=)
c.210A>C (p.Ser70=)
c.966A>C (p.Ser322=)
6g.149378977A>GCA452720257TAB2n.1477A>G
c.1062A>G (p.Ser354=)
c.210A>G (p.Ser70=)
c.966A>G (p.Ser322=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.149378977A>TCA452720258TAB2n.1477A>T
c.1062A>T (p.Ser354=)
c.210A>T (p.Ser70=)
c.966A>T (p.Ser322=)
6g.149378978G>ACA365997874TAB2n.1478G>A
c.1063G>A (p.Val355Ile)
c.211G>A (p.Val71Ile)
c.967G>A (p.Val323Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.149378978G>CCA365997876TAB2n.1478G>C
c.1063G>C (p.Val355Leu)
c.211G>C (p.Val71Leu)
c.967G>C (p.Val323Leu)
6g.149378978G=CA1671915836TAB2n.1478G=
c.1063G= (p.Val355=)
c.211G= (p.Val71=)
c.967G= (p.Val323=)
6g.149378978G>TCA365997875TAB2n.1478G>T
c.1063G>T (p.Val355Phe)
c.211G>T (p.Val71Phe)
c.967G>T (p.Val323Phe)
6g.149378979T>ACA365997877TAB2n.1479T>A
c.1064T>A (p.Val355Asp)
c.212T>A (p.Val71Asp)
c.968T>A (p.Val323Asp)
6g.149378979T>CCA365997878TAB2n.1479T>C
c.1064T>C (p.Val355Ala)
c.212T>C (p.Val71Ala)
c.968T>C (p.Val323Ala)
6g.149378979T>GCA365997879TAB2n.1479T>G
c.1064T>G (p.Val355Gly)
c.212T>G (p.Val71Gly)
c.968T>G (p.Val323Gly)
6g.149378980C>ACA452720259TAB2n.1480C>A
c.1065C>A (p.Val355=)
c.213C>A (p.Val71=)
c.969C>A (p.Val323=)
6g.149378980C=CA1671915837TAB2n.1480C=
c.1065C= (p.Val355=)
c.213C= (p.Val71=)
c.969C= (p.Val323=)
6g.149378980C>GCA4041479TAB2n.1480C>G
c.1065C>G (p.Val355=)
c.213C>G (p.Val71=)
c.969C>G (p.Val323=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149378980C>TCA452720260TAB2n.1480C>T
c.1065C>T (p.Val355=)
c.213C>T (p.Val71=)
c.969C>T (p.Val323=)
6g.149378981A>CCA365997880TAB2n.1481A>C
c.1066A>C (p.Asn356His)
c.214A>C (p.Asn72His)
c.970A>C (p.Asn324His)
6g.149378981A>GCA365997881TAB2n.1481A>G
c.1066A>G (p.Asn356Asp)
c.214A>G (p.Asn72Asp)
c.970A>G (p.Asn324Asp)
 gnomAD v4
6g.149378981A>TCA365997882TAB2n.1481A>T
c.1066A>T (p.Asn356Tyr)
c.214A>T (p.Asn72Tyr)
c.970A>T (p.Asn324Tyr)
6g.149378982A=CA1671915840TAB2n.1482A=
c.1067A= (p.Asn356=)
c.215A= (p.Asn72=)
c.971A= (p.Asn324=)
6g.149378982A>CCA365997883TAB2n.1482A>C
c.1067A>C (p.Asn356Thr)
c.215A>C (p.Asn72Thr)
c.971A>C (p.Asn324Thr)
6g.149378982A>GCA4041480TAB2n.1482A>G
c.1067A>G (p.Asn356Ser)
c.215A>G (p.Asn72Ser)
c.971A>G (p.Asn324Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.149378982A>TCA365997884TAB2n.1482A>T
c.1067A>T (p.Asn356Ile)
c.215A>T (p.Asn72Ile)
c.971A>T (p.Asn324Ile)
6g.149378983T>ACA365997885TAB2n.1483T>A
c.1068T>A (p.Asn356Lys)
c.216T>A (p.Asn72Lys)
c.972T>A (p.Asn324Lys)
6g.149378983T>CCA4041481TAB2n.1483T>C
c.1068T>C (p.Asn356=)
c.216T>C (p.Asn72=)
c.972T>C (p.Asn324=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149378983T>GCA365997886TAB2n.1483T>G
c.1068T>G (p.Asn356Lys)
c.216T>G (p.Asn72Lys)
c.972T>G (p.Asn324Lys)
6g.149378983T=CA1671915844TAB2n.1483T=
c.1068T= (p.Asn356=)
c.216T= (p.Asn72=)
c.972T= (p.Asn324=)
6g.149378984A>CCA365997887TAB2n.1484A>C
c.1069A>C (p.Ser357Arg)
c.217A>C (p.Ser73Arg)
c.973A>C (p.Ser325Arg)
6g.149378984A>GCA365997889TAB2n.1484A>G
c.1069A>G (p.Ser357Gly)
c.217A>G (p.Ser73Gly)
c.973A>G (p.Ser325Gly)
6g.149378984A>TCA365997888TAB2n.1484A>T
c.1069A>T (p.Ser357Cys)
c.217A>T (p.Ser73Cys)
c.973A>T (p.Ser325Cys)
6g.149378985G>ACA4041482TAB2n.1485G>A
c.1070G>A (p.Ser357Asn)
c.218G>A (p.Ser73Asn)
c.974G>A (p.Ser325Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.149378985G>CCA4041483TAB2n.1485G>C
c.1070G>C (p.Ser357Thr)
c.218G>C (p.Ser73Thr)
c.974G>C (p.Ser325Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149378985G=CA1671915851TAB2n.1485G=
c.1070G= (p.Ser357=)
c.218G= (p.Ser73=)
c.974G= (p.Ser325=)
6g.149378985G>TCA365997890TAB2n.1485G>T
c.1070G>T (p.Ser357Ile)
c.218G>T (p.Ser73Ile)
c.974G>T (p.Ser325Ile)
6g.149378986C>ACA365997891TAB2n.1486C>A
c.1071C>A (p.Ser357Arg)
c.219C>A (p.Ser73Arg)
c.975C>A (p.Ser325Arg)
6g.149378986C>GCA365997892TAB2n.1486C>G
c.1071C>G (p.Ser357Arg)
c.219C>G (p.Ser73Arg)
c.975C>G (p.Ser325Arg)
6g.149378986C>TCA452720261TAB2n.1486C>T
c.1071C>T (p.Ser357=)
c.219C>T (p.Ser73=)
c.975C>T (p.Ser325=)
6g.149378987C>ACA365997893TAB2n.1487C>A
c.1072C>A (p.Gln358Lys)
c.220C>A (p.Gln74Lys)
c.976C>A (p.Gln326Lys)
6g.149378987C>GCA365997894TAB2n.1487C>G
c.1072C>G (p.Gln358Glu)
c.220C>G (p.Gln74Glu)
c.976C>G (p.Gln326Glu)
6g.149378987C>TCA365997895TAB2n.1487C>T
c.1072C>T (p.Gln358Ter)
c.220C>T (p.Gln74Ter)
c.976C>T (p.Gln326Ter)
6g.149378988A=CA1671915853TAB2n.1488A=
c.1073A= (p.Gln358=)
c.221A= (p.Gln74=)
c.977A= (p.Gln326=)
6g.149378988A>CCA365997896TAB2n.1488A>C
c.1073A>C (p.Gln358Pro)
c.221A>C (p.Gln74Pro)
c.977A>C (p.Gln326Pro)
6g.149378988A>GCA365997897TAB2n.1488A>G
c.1073A>G (p.Gln358Arg)
c.221A>G (p.Gln74Arg)
c.977A>G (p.Gln326Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.149378988A>TCA365997898TAB2n.1488A>T
c.1073A>T (p.Gln358Leu)
c.221A>T (p.Gln74Leu)
c.977A>T (p.Gln326Leu)
6g.149378989G>ACA452720262TAB2n.1489G>A
c.1074G>A (p.Gln358=)
c.222G>A (p.Gln74=)
c.978G>A (p.Gln326=)
6g.149378989G>CCA365997899TAB2n.1489G>C
c.1074G>C (p.Gln358His)
c.222G>C (p.Gln74His)
c.978G>C (p.Gln326His)
6g.149378989G>TCA365997900TAB2n.1489G>T
c.1074G>T (p.Gln358His)
c.222G>T (p.Gln74His)
c.978G>T (p.Gln326His)
6g.149378990A>CCA365997901TAB2n.1490A>C
c.1075A>C (p.Thr359Pro)
c.223A>C (p.Thr75Pro)
c.979A>C (p.Thr327Pro)
6g.149378990A>GCA365997903TAB2n.1490A>G
c.1075A>G (p.Thr359Ala)
c.223A>G (p.Thr75Ala)
c.979A>G (p.Thr327Ala)
6g.149378990A>TCA365997902TAB2n.1490A>T
c.1075A>T (p.Thr359Ser)
c.223A>T (p.Thr75Ser)
c.979A>T (p.Thr327Ser)
6g.149378991C>ACA365997904TAB2n.1491C>A
c.1076C>A (p.Thr359Asn)
c.224C>A (p.Thr75Asn)
c.980C>A (p.Thr327Asn)
6g.149378991C>GCA365997905TAB2n.1491C>G
c.1076C>G (p.Thr359Ser)
c.224C>G (p.Thr75Ser)
c.980C>G (p.Thr327Ser)
6g.149378991C>TCA365997906TAB2n.1491C>T
c.1076C>T (p.Thr359Ile)
c.224C>T (p.Thr75Ile)
c.980C>T (p.Thr327Ile)
6g.149378992C>ACA452720263TAB2n.1492C>A
c.1077C>A (p.Thr359=)
c.225C>A (p.Thr75=)
c.981C>A (p.Thr327=)
6g.149378992C=CA1671915858TAB2n.1492C=
c.1077C= (p.Thr359=)
c.225C= (p.Thr75=)
c.981C= (p.Thr327=)
6g.149378992C>GCA452720264TAB2n.1492C>G
c.1077C>G (p.Thr359=)
c.225C>G (p.Thr75=)
c.981C>G (p.Thr327=)
 dbSNP gnomAD v2 gnomAD v4
6g.149378992C>TCA4041484TAB2n.1492C>T
c.1077C>T (p.Thr359=)
c.225C>T (p.Thr75=)
c.981C>T (p.Thr327=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149378993T>ACA365997907TAB2n.1493T>A
c.1078T>A (p.Leu360Ile)
c.226T>A (p.Leu76Ile)
c.982T>A (p.Leu328Ile)
6g.149378993T>CCA452720265TAB2n.1493T>C
c.1078T>C (p.Leu360=)
c.226T>C (p.Leu76=)
c.982T>C (p.Leu328=)
6g.149378993T>GCA365997908TAB2n.1493T>G
c.1078T>G (p.Leu360Val)
c.226T>G (p.Leu76Val)
c.982T>G (p.Leu328Val)
6g.149378993_149378994delCA2773512289TAB2n.1493_1494del
c.1078_1079del (p.Leu360LysfsTer18)
c.226_227del (p.Leu76LysfsTer18)
c.982_983del (p.Leu328LysfsTer18)
6g.149378994T>ACA365997909TAB2n.1494T>A
c.1079T>A (p.Leu360Ter)
c.227T>A (p.Leu76Ter)
c.983T>A (p.Leu328Ter)
6g.149378994T>CCA365997910TAB2n.1494T>C
c.1079T>C (p.Leu360Ser)
c.227T>C (p.Leu76Ser)
c.983T>C (p.Leu328Ser)
6g.149378994T>GCA365997911TAB2n.1494T>G
c.1079T>G (p.Leu360Ter)
c.227T>G (p.Leu76Ter)
c.983T>G (p.Leu328Ter)
6g.149378995A>CCA365997912TAB2n.1495A>C
c.1080A>C (p.Leu360Phe)
c.228A>C (p.Leu76Phe)
c.984A>C (p.Leu328Phe)
6g.149378995A>GCA452720266TAB2n.1495A>G
c.1080A>G (p.Leu360=)
c.228A>G (p.Leu76=)
c.984A>G (p.Leu328=)
6g.149378995A>TCA365997913TAB2n.1495A>T
c.1080A>T (p.Leu360Phe)
c.228A>T (p.Leu76Phe)
c.984A>T (p.Leu328Phe)
6g.149378996A>CCA365997916TAB2n.1496A>C
c.1081A>C (p.Asn361His)
c.229A>C (p.Asn77His)
c.985A>C (p.Asn329His)
 gnomAD v4
6g.149378996A>GCA365997915TAB2n.1496A>G
c.1081A>G (p.Asn361Asp)
c.229A>G (p.Asn77Asp)
c.985A>G (p.Asn329Asp)
6g.149378996A>TCA365997914TAB2n.1496A>T
c.1081A>T (p.Asn361Tyr)
c.229A>T (p.Asn77Tyr)
c.985A>T (p.Asn329Tyr)
6g.149378996_149378997insCCA2773512292TAB2n.1496_1497insC
c.1081_1082insC (p.Asn361ThrfsTer18)
c.229_230insC (p.Asn77ThrfsTer18)
c.985_986insC (p.Asn329ThrfsTer18)
6g.149378997A>CCA365997917TAB2n.1497A>C
c.1082A>C (p.Asn361Thr)
c.230A>C (p.Asn77Thr)
c.986A>C (p.Asn329Thr)
6g.149378997A>GCA365997918TAB2n.1497A>G
c.1082A>G (p.Asn361Ser)
c.230A>G (p.Asn77Ser)
c.986A>G (p.Asn329Ser)
6g.149378997A>TCA365997919TAB2n.1497A>T
c.1082A>T (p.Asn361Ile)
c.230A>T (p.Asn77Ile)
c.986A>T (p.Asn329Ile)
6g.149378999_149379000insCACCCAACACACA2773512291TAB2n.1499_1500insCACCCAACACA
c.1084_1085insCACCCAACACA (p.Arg362ThrfsTer12)
c.232_233insCACCCAACACA (p.Arg78ThrfsTer12)
c.988_989insCACCCAACACA (p.Arg330ThrfsTer12)
6g.149378998C>ACA365997920TAB2n.1498C>A
c.1083C>A (p.Asn361Lys)
c.231C>A (p.Asn77Lys)
c.987C>A (p.Asn329Lys)
6g.149378998C>GCA365997921TAB2n.1498C>G
c.1083C>G (p.Asn361Lys)
c.231C>G (p.Asn77Lys)
c.987C>G (p.Asn329Lys)
6g.149378998C>TCA452720267TAB2n.1498C>T
c.1083C>T (p.Asn361=)
c.231C>T (p.Asn77=)
c.987C>T (p.Asn329=)
 gnomAD v4
6g.149378999A>CCA452720268TAB2n.1499A>C
c.1084A>C (p.Arg362=)
c.232A>C (p.Arg78=)
c.988A>C (p.Arg330=)
6g.149378999A>GCA365997922TAB2n.1499A>G
c.1084A>G (p.Arg362Gly)
c.232A>G (p.Arg78Gly)
c.988A>G (p.Arg330Gly)
6g.149378999A>TCA365997923TAB2n.1499A>T
c.1084A>T (p.Arg362Ter)
c.232A>T (p.Arg78Ter)
c.988A>T (p.Arg330Ter)
6g.149379000G>ACA365997924TAB2n.1500G>A
c.1085G>A (p.Arg362Lys)
c.233G>A (p.Arg78Lys)
c.989G>A (p.Arg330Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.149379000G>CCA365997925TAB2n.1500G>C
c.1085G>C (p.Arg362Thr)
c.233G>C (p.Arg78Thr)
c.989G>C (p.Arg330Thr)
6g.149379000G=CA1671915861TAB2n.1500G=
c.1085G= (p.Arg362=)
c.233G= (p.Arg78=)
c.989G= (p.Arg330=)
6g.149379000G>TCA365997926TAB2n.1500G>T
c.1085G>T (p.Arg362Ile)
c.233G>T (p.Arg78Ile)
c.989G>T (p.Arg330Ile)
6g.149379001A>CCA365997927TAB2n.1501A>C
c.1086A>C (p.Arg362Ser)
c.234A>C (p.Arg78Ser)
c.990A>C (p.Arg330Ser)
6g.149379001A>GCA452720269TAB2n.1501A>G
c.1086A>G (p.Arg362=)
c.234A>G (p.Arg78=)
c.990A>G (p.Arg330=)
6g.149379001A>TCA365997928TAB2n.1501A>T
c.1086A>T (p.Arg362Ser)
c.234A>T (p.Arg78Ser)
c.990A>T (p.Arg330Ser)
6g.149379002A>CCA365997931TAB2n.1502A>C
c.1087A>C (p.Asn363His)
c.235A>C (p.Asn79His)
c.991A>C (p.Asn331His)
6g.149379002A>GCA365997930TAB2n.1502A>G
c.1087A>G (p.Asn363Asp)
c.235A>G (p.Asn79Asp)
c.991A>G (p.Asn331Asp)
6g.149379002A>TCA365997929TAB2n.1502A>T
c.1087A>T (p.Asn363Tyr)
c.235A>T (p.Asn79Tyr)
c.991A>T (p.Asn331Tyr)
6g.149379003A>CCA365997932TAB2n.1503A>C
c.1088A>C (p.Asn363Thr)
c.236A>C (p.Asn79Thr)
c.992A>C (p.Asn331Thr)
6g.149379003A>GCA365997933TAB2n.1503A>G
c.1088A>G (p.Asn363Ser)
c.236A>G (p.Asn79Ser)
c.992A>G (p.Asn331Ser)
6g.149379003A>TCA365997934TAB2n.1503A>T
c.1088A>T (p.Asn363Ile)
c.236A>T (p.Asn79Ile)
c.992A>T (p.Asn331Ile)
6g.149379004T>ACA365997935TAB2n.1504T>A
c.1089T>A (p.Asn363Lys)
c.237T>A (p.Asn79Lys)
c.993T>A (p.Asn331Lys)
6g.149379004T>CCA452720270TAB2n.1504T>C
c.1089T>C (p.Asn363=)
c.237T>C (p.Asn79=)
c.993T>C (p.Asn331=)
6g.149379004T>GCA365997936TAB2n.1504T>G
c.1089T>G (p.Asn363Lys)
c.237T>G (p.Asn79Lys)
c.993T>G (p.Asn331Lys)
6g.149379005C>ACA365997937TAB2n.1505C>A
c.1090C>A (p.Gln364Lys)
c.238C>A (p.Gln80Lys)
c.994C>A (p.Gln332Lys)
6g.149379005C>GCA365997938TAB2n.1505C>G
c.1090C>G (p.Gln364Glu)
c.238C>G (p.Gln80Glu)
c.994C>G (p.Gln332Glu)
6g.149379005C>TCA365997939TAB2n.1505C>T
c.1090C>T (p.Gln364Ter)
c.238C>T (p.Gln80Ter)
c.994C>T (p.Gln332Ter)
6g.149379006A>CCA365997940TAB2n.1506A>C
c.1091A>C (p.Gln364Pro)
c.239A>C (p.Gln80Pro)
c.995A>C (p.Gln332Pro)
 gnomAD v4
6g.149379006A>GCA365997941TAB2n.1506A>G
c.1091A>G (p.Gln364Arg)
c.239A>G (p.Gln80Arg)
c.995A>G (p.Gln332Arg)
6g.149379006A>TCA365997942TAB2n.1506A>T
c.1091A>T (p.Gln364Leu)
c.239A>T (p.Gln80Leu)
c.995A>T (p.Gln332Leu)
6g.149379007G>ACA452720271TAB2n.1507G>A
c.1092G>A (p.Gln364=)
c.240G>A (p.Gln80=)
c.996G>A (p.Gln332=)
6g.149379007G>CCA365997943TAB2n.1507G>C
c.1092G>C (p.Gln364His)
c.240G>C (p.Gln80His)
c.996G>C (p.Gln332His)
6g.149379007G>TCA365997944TAB2n.1507G>T
c.1092G>T (p.Gln364His)
c.240G>T (p.Gln80His)
c.996G>T (p.Gln332His)
6g.149379008C>ACA365997947TAB2n.1508C>A
c.1093C>A (p.Pro365Thr)
c.241C>A (p.Pro81Thr)
c.997C>A (p.Pro333Thr)
6g.149379008C>GCA365997945TAB2n.1508C>G
c.1093C>G (p.Pro365Ala)
c.241C>G (p.Pro81Ala)
c.997C>G (p.Pro333Ala)
6g.149379008C>TCA365997946TAB2n.1508C>T
c.1093C>T (p.Pro365Ser)
c.241C>T (p.Pro81Ser)
c.997C>T (p.Pro333Ser)
6g.149379009C>ACA365997948TAB2n.1509C>A
c.1094C>A (p.Pro365His)
c.242C>A (p.Pro81His)
c.998C>A (p.Pro333His)
6g.149379009C=CA1671915863TAB2n.1509C=
c.1094C= (p.Pro365=)
c.242C= (p.Pro81=)
c.998C= (p.Pro333=)
6g.149379009C>GCA365997949TAB2n.1509C>G
c.1094C>G (p.Pro365Arg)
c.242C>G (p.Pro81Arg)
c.998C>G (p.Pro333Arg)
 dbSNP
6g.149379009C>TCA365997950TAB2n.1509C>T
c.1094C>T (p.Pro365Leu)
c.242C>T (p.Pro81Leu)
c.998C>T (p.Pro333Leu)
6g.149379010C>ACA452720272TAB2n.1510C>A
c.1095C>A (p.Pro365=)
c.243C>A (p.Pro81=)
c.999C>A (p.Pro333=)
6g.149379010C=CA1671915865TAB2n.1510C=
c.1095C= (p.Pro365=)
c.243C= (p.Pro81=)
c.999C= (p.Pro333=)
6g.149379010C>GCA452720273TAB2n.1510C>G
c.1095C>G (p.Pro365=)
c.243C>G (p.Pro81=)
c.999C>G (p.Pro333=)
6g.149379010C>TCA452720274TAB2n.1510C>T
c.1095C>T (p.Pro365=)
c.243C>T (p.Pro81=)
c.999C>T (p.Pro333=)
 dbSNP gnomAD v2 gnomAD v4
6g.149379011A>CCA365997951TAB2n.1511A>C
c.1096A>C (p.Thr366Pro)
c.244A>C (p.Thr82Pro)
c.1000A>C (p.Thr334Pro)
6g.149379011A>GCA365997952TAB2n.1511A>G
c.1096A>G (p.Thr366Ala)
c.244A>G (p.Thr82Ala)
c.1000A>G (p.Thr334Ala)
6g.149379011A>TCA365997953TAB2n.1511A>T
c.1096A>T (p.Thr366Ser)
c.244A>T (p.Thr82Ser)
c.1000A>T (p.Thr334Ser)
6g.149379012C>ACA365997954TAB2n.1512C>A
c.1097C>A (p.Thr366Asn)
c.245C>A (p.Thr82Asn)
c.1001C>A (p.Thr334Asn)
6g.149379012C=CA1671915870TAB2n.1512C=
c.1097C= (p.Thr366=)
c.245C= (p.Thr82=)
c.1001C= (p.Thr334=)
6g.149379012C>GCA365997955TAB2n.1512C>G
c.1097C>G (p.Thr366Ser)
c.245C>G (p.Thr82Ser)
c.1001C>G (p.Thr334Ser)
 gnomAD v4
6g.149379012C>TCA365997956TAB2n.1512C>T
c.1097C>T (p.Thr366Ile)
c.245C>T (p.Thr82Ile)
c.1001C>T (p.Thr334Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.149379013T>ACA452720275TAB2n.1513T>A
c.1098T>A (p.Thr366=)
c.246T>A (p.Thr82=)
c.1002T>A (p.Thr334=)
6g.149379013T>CCA452720276TAB2n.1513T>C
c.1098T>C (p.Thr366=)
c.246T>C (p.Thr82=)
c.1002T>C (p.Thr334=)
6g.149379013T>GCA452720277TAB2n.1513T>G
c.1098T>G (p.Thr366=)
c.246T>G (p.Thr82=)
c.1002T>G (p.Thr334=)
6g.149379014G>ACA365997957TAB2n.1514G>A
c.1099G>A (p.Val367Ile)
c.247G>A (p.Val83Ile)
c.1003G>A (p.Val335Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.149379014G>CCA365997958TAB2n.1514G>C
c.1099G>C (p.Val367Leu)
c.247G>C (p.Val83Leu)
c.1003G>C (p.Val335Leu)
6g.149379014G=CA1671915873TAB2n.1514G=
c.1099G= (p.Val367=)
c.247G= (p.Val83=)
c.1003G= (p.Val335=)
6g.149379014G>TCA365997959TAB2n.1514G>T
c.1099G>T (p.Val367Phe)
c.247G>T (p.Val83Phe)
c.1003G>T (p.Val335Phe)
6g.149379015T>ACA365997960TAB2n.1515T>A
c.1100T>A (p.Val367Asp)
c.248T>A (p.Val83Asp)
c.1004T>A (p.Val335Asp)
6g.149379015T>CCA365997962TAB2n.1515T>C
c.1100T>C (p.Val367Ala)
c.248T>C (p.Val83Ala)
c.1004T>C (p.Val335Ala)
6g.149379015T>GCA365997961TAB2n.1515T>G
c.1100T>G (p.Val367Gly)
c.248T>G (p.Val83Gly)
c.1004T>G (p.Val335Gly)
6g.149379016T>ACA452720278TAB2n.1516T>A
c.1101T>A (p.Val367=)
c.249T>A (p.Val83=)
c.1005T>A (p.Val335=)
6g.149379016T>CCA452720279TAB2n.1516T>C
c.1101T>C (p.Val367=)
c.249T>C (p.Val83=)
c.1005T>C (p.Val335=)
6g.149379016T>GCA452720280TAB2n.1516T>G
c.1101T>G (p.Val367=)
c.249T>G (p.Val83=)
c.1005T>G (p.Val335=)

Number of alleles fetched