Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24596052C>ACA362971201KIAA0319c.622G>T (p.Glu208Ter)
c.487G>T (p.Glu163Ter)
c.595G>T (p.Glu199Ter)
c.166G>T (p.Glu56Ter)
c.640G>T (p.Glu214Ter)
c.604G>T (p.Glu202Ter)
n.865G>T
6g.24596052C>GCA362971202KIAA0319c.622G>C (p.Glu208Gln)
c.487G>C (p.Glu163Gln)
c.595G>C (p.Glu199Gln)
c.166G>C (p.Glu56Gln)
c.640G>C (p.Glu214Gln)
c.604G>C (p.Glu202Gln)
n.865G>C
 gnomAD v4
6g.24596052C>TCA362971203KIAA0319c.622G>A (p.Glu208Lys)
c.487G>A (p.Glu163Lys)
c.595G>A (p.Glu199Lys)
c.166G>A (p.Glu56Lys)
c.640G>A (p.Glu214Lys)
c.604G>A (p.Glu202Lys)
n.865G>A
6g.24596053C>ACA448958817KIAA0319c.621G>T (p.Ala207=)
c.486G>T (p.Ala162=)
c.594G>T (p.Ala198=)
c.165G>T (p.Ala55=)
c.639G>T (p.Ala213=)
c.603G>T (p.Ala201=)
n.864G>T
 dbSNP
6g.24596053C=CA1616548774KIAA0319c.621G= (p.Ala207=)
c.486G= (p.Ala162=)
c.594G= (p.Ala198=)
c.165G= (p.Ala55=)
c.639G= (p.Ala213=)
c.603G= (p.Ala201=)
n.864G=
6g.24596053C>GCA136131309KIAA0319c.621G>C (p.Ala207=)
c.486G>C (p.Ala162=)
c.594G>C (p.Ala198=)
c.165G>C (p.Ala55=)
c.639G>C (p.Ala213=)
c.603G>C (p.Ala201=)
n.864G>C
 dbSNP
6g.24596053C>TCA3657808KIAA0319c.621G>A (p.Ala207=)
c.486G>A (p.Ala162=)
c.594G>A (p.Ala198=)
c.165G>A (p.Ala55=)
c.639G>A (p.Ala213=)
c.603G>A (p.Ala201=)
n.864G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.24596054G>ACA136131314KIAA0319c.620C>T (p.Ala207Val)
c.485C>T (p.Ala162Val)
c.593C>T (p.Ala198Val)
c.164C>T (p.Ala55Val)
c.638C>T (p.Ala213Val)
c.602C>T (p.Ala201Val)
n.863C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.24596054G>CCA362971204KIAA0319c.620C>G (p.Ala207Gly)
c.485C>G (p.Ala162Gly)
c.593C>G (p.Ala198Gly)
c.164C>G (p.Ala55Gly)
c.638C>G (p.Ala213Gly)
c.602C>G (p.Ala201Gly)
n.863C>G
6g.24596054G=CA1616548775KIAA0319c.620C= (p.Ala207=)
c.485C= (p.Ala162=)
c.593C= (p.Ala198=)
c.164C= (p.Ala55=)
c.638C= (p.Ala213=)
c.602C= (p.Ala201=)
n.863C=
6g.24596054G>TCA362971205KIAA0319c.620C>A (p.Ala207Glu)
c.485C>A (p.Ala162Glu)
c.593C>A (p.Ala198Glu)
c.164C>A (p.Ala55Glu)
c.638C>A (p.Ala213Glu)
c.602C>A (p.Ala201Glu)
n.863C>A
6g.24596055C>ACA362971206KIAA0319c.619G>T (p.Ala207Ser)
c.484G>T (p.Ala162Ser)
c.592G>T (p.Ala198Ser)
c.163G>T (p.Ala55Ser)
c.637G>T (p.Ala213Ser)
c.601G>T (p.Ala201Ser)
n.862G>T
6g.24596055C=CA1616548776KIAA0319c.619G= (p.Ala207=)
c.484G= (p.Ala162=)
c.592G= (p.Ala198=)
c.163G= (p.Ala55=)
c.637G= (p.Ala213=)
c.601G= (p.Ala201=)
n.862G=
6g.24596055C>GCA362971207KIAA0319c.619G>C (p.Ala207Pro)
c.484G>C (p.Ala162Pro)
c.592G>C (p.Ala198Pro)
c.163G>C (p.Ala55Pro)
c.637G>C (p.Ala213Pro)
c.601G>C (p.Ala201Pro)
n.862G>C
6g.24596055C>TCA362971208KIAA0319c.619G>A (p.Ala207Thr)
c.484G>A (p.Ala162Thr)
c.592G>A (p.Ala198Thr)
c.163G>A (p.Ala55Thr)
c.637G>A (p.Ala213Thr)
c.601G>A (p.Ala201Thr)
n.862G>A
 dbSNP gnomAD v2 gnomAD v4
6g.24596056T>ACA448958820KIAA0319c.618A>T (p.Pro206=)
c.483A>T (p.Pro161=)
c.591A>T (p.Pro197=)
c.162A>T (p.Pro54=)
c.636A>T (p.Pro212=)
c.600A>T (p.Pro200=)
n.861A>T
6g.24596056T>CCA448958818KIAA0319c.618A>G (p.Pro206=)
c.483A>G (p.Pro161=)
c.591A>G (p.Pro197=)
c.162A>G (p.Pro54=)
c.636A>G (p.Pro212=)
c.600A>G (p.Pro200=)
n.861A>G
6g.24596056T>GCA448958819KIAA0319c.618A>C (p.Pro206=)
c.483A>C (p.Pro161=)
c.591A>C (p.Pro197=)
c.162A>C (p.Pro54=)
c.636A>C (p.Pro212=)
c.600A>C (p.Pro200=)
n.861A>C
6g.24596057G>ACA362971211KIAA0319c.617C>T (p.Pro206Leu)
c.482C>T (p.Pro161Leu)
c.590C>T (p.Pro197Leu)
c.161C>T (p.Pro54Leu)
c.635C>T (p.Pro212Leu)
c.599C>T (p.Pro200Leu)
n.860C>T
 gnomAD v4
6g.24596057G>CCA362971209KIAA0319c.617C>G (p.Pro206Arg)
c.482C>G (p.Pro161Arg)
c.590C>G (p.Pro197Arg)
c.161C>G (p.Pro54Arg)
c.635C>G (p.Pro212Arg)
c.599C>G (p.Pro200Arg)
n.860C>G
6g.24596057G>TCA362971210KIAA0319c.617C>A (p.Pro206Gln)
c.482C>A (p.Pro161Gln)
c.590C>A (p.Pro197Gln)
c.161C>A (p.Pro54Gln)
c.635C>A (p.Pro212Gln)
c.599C>A (p.Pro200Gln)
n.860C>A
6g.24596058G>ACA362971212KIAA0319c.616C>T (p.Pro206Ser)
c.481C>T (p.Pro161Ser)
c.589C>T (p.Pro197Ser)
c.160C>T (p.Pro54Ser)
c.634C>T (p.Pro212Ser)
c.598C>T (p.Pro200Ser)
n.859C>T
6g.24596058G>CCA362971213KIAA0319c.616C>G (p.Pro206Ala)
c.481C>G (p.Pro161Ala)
c.589C>G (p.Pro197Ala)
c.160C>G (p.Pro54Ala)
c.634C>G (p.Pro212Ala)
c.598C>G (p.Pro200Ala)
n.859C>G
6g.24596058G>TCA362971214KIAA0319c.616C>A (p.Pro206Thr)
c.481C>A (p.Pro161Thr)
c.589C>A (p.Pro197Thr)
c.160C>A (p.Pro54Thr)
c.634C>A (p.Pro212Thr)
c.598C>A (p.Pro200Thr)
n.859C>A
6g.24596059C>ACA448958822KIAA0319c.615G>T (p.Val205=)
c.480G>T (p.Val160=)
c.588G>T (p.Val196=)
c.159G>T (p.Val53=)
c.633G>T (p.Val211=)
c.597G>T (p.Val199=)
n.858G>T
 dbSNP
6g.24596059C=CA1616548777KIAA0319c.615G= (p.Val205=)
c.480G= (p.Val160=)
c.588G= (p.Val196=)
c.159G= (p.Val53=)
c.633G= (p.Val211=)
c.597G= (p.Val199=)
n.858G=
6g.24596059C>GCA448958823KIAA0319c.615G>C (p.Val205=)
c.480G>C (p.Val160=)
c.588G>C (p.Val196=)
c.159G>C (p.Val53=)
c.633G>C (p.Val211=)
c.597G>C (p.Val199=)
n.858G>C
6g.24596059C>TCA448958821KIAA0319c.615G>A (p.Val205=)
c.480G>A (p.Val160=)
c.588G>A (p.Val196=)
c.159G>A (p.Val53=)
c.633G>A (p.Val211=)
c.597G>A (p.Val199=)
n.858G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24596060A>CCA362971215KIAA0319c.614T>G (p.Val205Gly)
c.479T>G (p.Val160Gly)
c.587T>G (p.Val196Gly)
c.158T>G (p.Val53Gly)
c.632T>G (p.Val211Gly)
c.596T>G (p.Val199Gly)
n.857T>G
6g.24596060A>GCA362971216KIAA0319c.614T>C (p.Val205Ala)
c.479T>C (p.Val160Ala)
c.587T>C (p.Val196Ala)
c.158T>C (p.Val53Ala)
c.632T>C (p.Val211Ala)
c.596T>C (p.Val199Ala)
n.857T>C
6g.24596060A>TCA362971217KIAA0319c.614T>A (p.Val205Glu)
c.479T>A (p.Val160Glu)
c.587T>A (p.Val196Glu)
c.158T>A (p.Val53Glu)
c.632T>A (p.Val211Glu)
c.596T>A (p.Val199Glu)
n.857T>A
6g.24596061C>ACA362971218KIAA0319c.613G>T (p.Val205Leu)
c.478G>T (p.Val160Leu)
c.586G>T (p.Val196Leu)
c.157G>T (p.Val53Leu)
c.631G>T (p.Val211Leu)
c.595G>T (p.Val199Leu)
n.856G>T
6g.24596061C>GCA362971219KIAA0319c.613G>C (p.Val205Leu)
c.478G>C (p.Val160Leu)
c.586G>C (p.Val196Leu)
c.157G>C (p.Val53Leu)
c.631G>C (p.Val211Leu)
c.595G>C (p.Val199Leu)
n.856G>C
6g.24596061C>TCA362971220KIAA0319c.613G>A (p.Val205Met)
c.478G>A (p.Val160Met)
c.586G>A (p.Val196Met)
c.157G>A (p.Val53Met)
c.631G>A (p.Val211Met)
c.595G>A (p.Val199Met)
n.856G>A
6g.24596062C>ACA448958825KIAA0319c.612G>T (p.Ala204=)
c.477G>T (p.Ala159=)
c.585G>T (p.Ala195=)
c.156G>T (p.Ala52=)
c.630G>T (p.Ala210=)
c.594G>T (p.Ala198=)
n.855G>T
 gnomAD v4 COSMIC
6g.24596062C=CA1616548778KIAA0319c.612G= (p.Ala204=)
c.477G= (p.Ala159=)
c.585G= (p.Ala195=)
c.156G= (p.Ala52=)
c.630G= (p.Ala210=)
c.594G= (p.Ala198=)
n.855G=
6g.24596062C>GCA448958824KIAA0319c.612G>C (p.Ala204=)
c.477G>C (p.Ala159=)
c.585G>C (p.Ala195=)
c.156G>C (p.Ala52=)
c.630G>C (p.Ala210=)
c.594G>C (p.Ala198=)
n.855G>C
 dbSNP gnomAD v2 gnomAD v4
6g.24596062C>TCA3657809KIAA0319c.612G>A (p.Ala204=)
c.477G>A (p.Ala159=)
c.585G>A (p.Ala195=)
c.156G>A (p.Ala52=)
c.630G>A (p.Ala210=)
c.594G>A (p.Ala198=)
n.855G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596063G>ACA3657810KIAA0319c.611C>T (p.Ala204Val)
c.476C>T (p.Ala159Val)
c.584C>T (p.Ala195Val)
c.155C>T (p.Ala52Val)
c.629C>T (p.Ala210Val)
c.593C>T (p.Ala198Val)
n.854C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596063G>CCA362971221KIAA0319c.611C>G (p.Ala204Gly)
c.476C>G (p.Ala159Gly)
c.584C>G (p.Ala195Gly)
c.155C>G (p.Ala52Gly)
c.629C>G (p.Ala210Gly)
c.593C>G (p.Ala198Gly)
n.854C>G
6g.24596063G=CA1616548779KIAA0319c.611C= (p.Ala204=)
c.476C= (p.Ala159=)
c.584C= (p.Ala195=)
c.155C= (p.Ala52=)
c.629C= (p.Ala210=)
c.593C= (p.Ala198=)
n.854C=
6g.24596063G>TCA362971222KIAA0319c.611C>A (p.Ala204Glu)
c.476C>A (p.Ala159Glu)
c.584C>A (p.Ala195Glu)
c.155C>A (p.Ala52Glu)
c.629C>A (p.Ala210Glu)
c.593C>A (p.Ala198Glu)
n.854C>A
 COSMIC
6g.24596064C>ACA362971225KIAA0319c.610G>T (p.Ala204Ser)
c.475G>T (p.Ala159Ser)
c.583G>T (p.Ala195Ser)
c.154G>T (p.Ala52Ser)
c.628G>T (p.Ala210Ser)
c.592G>T (p.Ala198Ser)
n.853G>T
6g.24596064C>GCA362971224KIAA0319c.610G>C (p.Ala204Pro)
c.475G>C (p.Ala159Pro)
c.583G>C (p.Ala195Pro)
c.154G>C (p.Ala52Pro)
c.628G>C (p.Ala210Pro)
c.592G>C (p.Ala198Pro)
n.853G>C
6g.24596064C>TCA362971223KIAA0319c.610G>A (p.Ala204Thr)
c.475G>A (p.Ala159Thr)
c.583G>A (p.Ala195Thr)
c.154G>A (p.Ala52Thr)
c.628G>A (p.Ala210Thr)
c.592G>A (p.Ala198Thr)
n.853G>A
 COSMIC
6g.24596065A>CCA448958828KIAA0319c.609T>G (p.Pro203=)
c.474T>G (p.Pro158=)
c.582T>G (p.Pro194=)
c.153T>G (p.Pro51=)
c.627T>G (p.Pro209=)
c.591T>G (p.Pro197=)
n.852T>G
6g.24596065A>GCA448958826KIAA0319c.609T>C (p.Pro203=)
c.474T>C (p.Pro158=)
c.582T>C (p.Pro194=)
c.153T>C (p.Pro51=)
c.627T>C (p.Pro209=)
c.591T>C (p.Pro197=)
n.852T>C
6g.24596065A>TCA448958827KIAA0319c.609T>A (p.Pro203=)
c.474T>A (p.Pro158=)
c.582T>A (p.Pro194=)
c.153T>A (p.Pro51=)
c.627T>A (p.Pro209=)
c.591T>A (p.Pro197=)
n.852T>A
6g.24596066G>ACA362971227KIAA0319c.608C>T (p.Pro203Leu)
c.473C>T (p.Pro158Leu)
c.581C>T (p.Pro194Leu)
c.152C>T (p.Pro51Leu)
c.626C>T (p.Pro209Leu)
c.590C>T (p.Pro197Leu)
n.851C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24596066G>CCA362971226KIAA0319c.608C>G (p.Pro203Arg)
c.473C>G (p.Pro158Arg)
c.581C>G (p.Pro194Arg)
c.152C>G (p.Pro51Arg)
c.626C>G (p.Pro209Arg)
c.590C>G (p.Pro197Arg)
n.851C>G
 dbSNP gnomAD v4
6g.24596066G=CA1616548780KIAA0319c.608C= (p.Pro203=)
c.473C= (p.Pro158=)
c.581C= (p.Pro194=)
c.152C= (p.Pro51=)
c.626C= (p.Pro209=)
c.590C= (p.Pro197=)
n.851C=
6g.24596066G>TCA362971228KIAA0319c.608C>A (p.Pro203His)
c.473C>A (p.Pro158His)
c.581C>A (p.Pro194His)
c.152C>A (p.Pro51His)
c.626C>A (p.Pro209His)
c.590C>A (p.Pro197His)
n.851C>A
6g.24596067G>ACA362971229KIAA0319c.607C>T (p.Pro203Ser)
c.472C>T (p.Pro158Ser)
c.580C>T (p.Pro194Ser)
c.151C>T (p.Pro51Ser)
c.625C>T (p.Pro209Ser)
c.589C>T (p.Pro197Ser)
n.850C>T
 gnomAD v4
6g.24596067G>CCA362971231KIAA0319c.607C>G (p.Pro203Ala)
c.472C>G (p.Pro158Ala)
c.580C>G (p.Pro194Ala)
c.151C>G (p.Pro51Ala)
c.625C>G (p.Pro209Ala)
c.589C>G (p.Pro197Ala)
n.850C>G
6g.24596067G>TCA362971230KIAA0319c.607C>A (p.Pro203Thr)
c.472C>A (p.Pro158Thr)
c.580C>A (p.Pro194Thr)
c.151C>A (p.Pro51Thr)
c.625C>A (p.Pro209Thr)
c.589C>A (p.Pro197Thr)
n.850C>A
 gnomAD v4
6g.24596068A=CA1616548781KIAA0319c.606T= (p.Ser202=)
c.471T= (p.Ser157=)
c.579T= (p.Ser193=)
c.150T= (p.Ser50=)
c.624T= (p.Ser208=)
c.588T= (p.Ser196=)
n.849T=
6g.24596068A>CCA362971232KIAA0319c.606T>G (p.Ser202Arg)
c.471T>G (p.Ser157Arg)
c.579T>G (p.Ser193Arg)
c.150T>G (p.Ser50Arg)
c.624T>G (p.Ser208Arg)
c.588T>G (p.Ser196Arg)
n.849T>G
6g.24596068A>GCA448958829KIAA0319c.606T>C (p.Ser202=)
c.471T>C (p.Ser157=)
c.579T>C (p.Ser193=)
c.150T>C (p.Ser50=)
c.624T>C (p.Ser208=)
c.588T>C (p.Ser196=)
n.849T>C
6g.24596068A>TCA362971233KIAA0319c.606T>A (p.Ser202Arg)
c.471T>A (p.Ser157Arg)
c.579T>A (p.Ser193Arg)
c.150T>A (p.Ser50Arg)
c.624T>A (p.Ser208Arg)
c.588T>A (p.Ser196Arg)
n.849T>A
6g.24596069C>ACA362971234KIAA0319c.605G>T (p.Ser202Ile)
c.470G>T (p.Ser157Ile)
c.578G>T (p.Ser193Ile)
c.149G>T (p.Ser50Ile)
c.623G>T (p.Ser208Ile)
c.587G>T (p.Ser196Ile)
n.848G>T
6g.24596069C=CA1616548782KIAA0319c.605G= (p.Ser202=)
c.470G= (p.Ser157=)
c.578G= (p.Ser193=)
c.149G= (p.Ser50=)
c.623G= (p.Ser208=)
c.587G= (p.Ser196=)
n.848G=
6g.24596069C>GCA362971235KIAA0319c.605G>C (p.Ser202Thr)
c.470G>C (p.Ser157Thr)
c.578G>C (p.Ser193Thr)
c.149G>C (p.Ser50Thr)
c.623G>C (p.Ser208Thr)
c.587G>C (p.Ser196Thr)
n.848G>C
6g.24596069C>TCA362971236KIAA0319c.605G>A (p.Ser202Asn)
c.470G>A (p.Ser157Asn)
c.578G>A (p.Ser193Asn)
c.149G>A (p.Ser50Asn)
c.623G>A (p.Ser208Asn)
c.587G>A (p.Ser196Asn)
n.848G>A
 dbSNP gnomAD v3 gnomAD v4
6g.24596069_24596070insCCCA1616548783KIAA0319c.605_606insGG (p.Ser202ArgfsTer18)
c.470_471insGG (p.Ser157ArgfsTer18)
c.578_579insGG (p.Ser193ArgfsTer18)
c.149_150insGG (p.Ser50ArgfsTer18)
c.623_624insGG (p.Ser208ArgfsTer18)
c.587_588insGG (p.Ser196ArgfsTer18)
n.848_849insGG
 dbSNP
6g.24596070T>ACA362971237KIAA0319c.604A>T (p.Ser202Cys)
c.469A>T (p.Ser157Cys)
c.577A>T (p.Ser193Cys)
c.148A>T (p.Ser50Cys)
c.622A>T (p.Ser208Cys)
c.586A>T (p.Ser196Cys)
n.847A>T
6g.24596070T>CCA362971238KIAA0319c.604A>G (p.Ser202Gly)
c.469A>G (p.Ser157Gly)
c.577A>G (p.Ser193Gly)
c.148A>G (p.Ser50Gly)
c.622A>G (p.Ser208Gly)
c.586A>G (p.Ser196Gly)
n.847A>G
 dbSNP gnomAD v2 gnomAD v4
6g.24596070T>GCA362971239KIAA0319c.604A>C (p.Ser202Arg)
c.469A>C (p.Ser157Arg)
c.577A>C (p.Ser193Arg)
c.148A>C (p.Ser50Arg)
c.622A>C (p.Ser208Arg)
c.586A>C (p.Ser196Arg)
n.847A>C
6g.24596070T=CA1616548784KIAA0319c.604A= (p.Ser202=)
c.469A= (p.Ser157=)
c.577A= (p.Ser193=)
c.148A= (p.Ser50=)
c.622A= (p.Ser208=)
c.586A= (p.Ser196=)
n.847A=
6g.24596071G>ACA448958830KIAA0319c.603C>T (p.Asp201=)
c.468C>T (p.Asp156=)
c.576C>T (p.Asp192=)
c.147C>T (p.Asp49=)
c.621C>T (p.Asp207=)
c.585C>T (p.Asp195=)
n.846C>T
6g.24596071G>CCA362971240KIAA0319c.603C>G (p.Asp201Glu)
c.468C>G (p.Asp156Glu)
c.576C>G (p.Asp192Glu)
c.147C>G (p.Asp49Glu)
c.621C>G (p.Asp207Glu)
c.585C>G (p.Asp195Glu)
n.846C>G
6g.24596071G=CA1616548785KIAA0319c.603C= (p.Asp201=)
c.468C= (p.Asp156=)
c.576C= (p.Asp192=)
c.147C= (p.Asp49=)
c.621C= (p.Asp207=)
c.585C= (p.Asp195=)
n.846C=
6g.24596071G>TCA362971241KIAA0319c.603C>A (p.Asp201Glu)
c.468C>A (p.Asp156Glu)
c.576C>A (p.Asp192Glu)
c.147C>A (p.Asp49Glu)
c.621C>A (p.Asp207Glu)
c.585C>A (p.Asp195Glu)
n.846C>A
6g.24596071_24596075dupCA2578543688KIAA0319c.599_603dup (p.Ser202GlufsTer19)
c.464_468dup (p.Ser157GlufsTer19)
c.572_576dup (p.Ser193GlufsTer19)
c.143_147dup (p.Ser50GlufsTer19)
c.617_621dup (p.Ser208GlufsTer19)
c.581_585dup (p.Ser196GlufsTer19)
n.842_846dup
6g.24596071_24596072insACA1616548786KIAA0319c.602_603insT (p.Ser202GlnfsTer13)
c.467_468insT (p.Ser157GlnfsTer13)
c.575_576insT (p.Ser193GlnfsTer13)
c.146_147insT (p.Ser50GlnfsTer13)
c.620_621insT (p.Ser208GlnfsTer13)
c.584_585insT (p.Ser196GlnfsTer13)
n.845_846insT
 dbSNP
6g.24596072T>ACA362971243KIAA0319c.602A>T (p.Asp201Val)
c.467A>T (p.Asp156Val)
c.575A>T (p.Asp192Val)
c.146A>T (p.Asp49Val)
c.620A>T (p.Asp207Val)
c.584A>T (p.Asp195Val)
n.845A>T
6g.24596072T>CCA3657811KIAA0319c.602A>G (p.Asp201Gly)
c.467A>G (p.Asp156Gly)
c.575A>G (p.Asp192Gly)
c.146A>G (p.Asp49Gly)
c.620A>G (p.Asp207Gly)
c.584A>G (p.Asp195Gly)
n.845A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24596072T>GCA362971242KIAA0319c.602A>C (p.Asp201Ala)
c.467A>C (p.Asp156Ala)
c.575A>C (p.Asp192Ala)
c.146A>C (p.Asp49Ala)
c.620A>C (p.Asp207Ala)
c.584A>C (p.Asp195Ala)
n.845A>C
 dbSNP
6g.24596072T=CA1616548787KIAA0319c.602A= (p.Asp201=)
c.467A= (p.Asp156=)
c.575A= (p.Asp192=)
c.146A= (p.Asp49=)
c.620A= (p.Asp207=)
c.584A= (p.Asp195=)
n.845A=
6g.24596073C>ACA362971244KIAA0319c.601G>T (p.Asp201Tyr)
c.466G>T (p.Asp156Tyr)
c.574G>T (p.Asp192Tyr)
c.145G>T (p.Asp49Tyr)
c.619G>T (p.Asp207Tyr)
c.583G>T (p.Asp195Tyr)
n.844G>T
6g.24596073C=CA1616548788KIAA0319c.601G= (p.Asp201=)
c.466G= (p.Asp156=)
c.574G= (p.Asp192=)
c.145G= (p.Asp49=)
c.619G= (p.Asp207=)
c.583G= (p.Asp195=)
n.844G=
6g.24596073C>GCA362971245KIAA0319c.601G>C (p.Asp201His)
c.466G>C (p.Asp156His)
c.574G>C (p.Asp192His)
c.145G>C (p.Asp49His)
c.619G>C (p.Asp207His)
c.583G>C (p.Asp195His)
n.844G>C
6g.24596073C>TCA136131340KIAA0319c.601G>A (p.Asp201Asn)
c.466G>A (p.Asp156Asn)
c.574G>A (p.Asp192Asn)
c.145G>A (p.Asp49Asn)
c.619G>A (p.Asp207Asn)
c.583G>A (p.Asp195Asn)
n.844G>A
 dbSNP gnomAD v4
6g.24596074T>ACA448958831KIAA0319c.600A>T (p.Gly200=)
c.465A>T (p.Gly155=)
c.573A>T (p.Gly191=)
c.144A>T (p.Gly48=)
c.618A>T (p.Gly206=)
c.582A>T (p.Gly194=)
n.843A>T
 gnomAD v4
6g.24596074T>CCA448958832KIAA0319c.600A>G (p.Gly200=)
c.465A>G (p.Gly155=)
c.573A>G (p.Gly191=)
c.144A>G (p.Gly48=)
c.618A>G (p.Gly206=)
c.582A>G (p.Gly194=)
n.843A>G
6g.24596074T>GCA448958833KIAA0319c.600A>C (p.Gly200=)
c.465A>C (p.Gly155=)
c.573A>C (p.Gly191=)
c.144A>C (p.Gly48=)
c.618A>C (p.Gly206=)
c.582A>C (p.Gly194=)
n.843A>C
6g.24596075C>ACA362971246KIAA0319c.599G>T (p.Gly200Val)
c.464G>T (p.Gly155Val)
c.572G>T (p.Gly191Val)
c.143G>T (p.Gly48Val)
c.617G>T (p.Gly206Val)
c.581G>T (p.Gly194Val)
n.842G>T
6g.24596075C=CA1616548789KIAA0319c.599G= (p.Gly200=)
c.464G= (p.Gly155=)
c.572G= (p.Gly191=)
c.143G= (p.Gly48=)
c.617G= (p.Gly206=)
c.581G= (p.Gly194=)
n.842G=
6g.24596075C>GCA362971247KIAA0319c.599G>C (p.Gly200Ala)
c.464G>C (p.Gly155Ala)
c.572G>C (p.Gly191Ala)
c.143G>C (p.Gly48Ala)
c.617G>C (p.Gly206Ala)
c.581G>C (p.Gly194Ala)
n.842G>C
6g.24596075C>TCA3657812KIAA0319c.599G>A (p.Gly200Glu)
c.464G>A (p.Gly155Glu)
c.572G>A (p.Gly191Glu)
c.143G>A (p.Gly48Glu)
c.617G>A (p.Gly206Glu)
c.581G>A (p.Gly194Glu)
n.842G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596076C>ACA362971248KIAA0319c.598G>T (p.Gly200Ter)
c.463G>T (p.Gly155Ter)
c.571G>T (p.Gly191Ter)
c.142G>T (p.Gly48Ter)
c.616G>T (p.Gly206Ter)
c.580G>T (p.Gly194Ter)
n.841G>T
6g.24596076C=CA1616548790KIAA0319c.598G= (p.Gly200=)
c.463G= (p.Gly155=)
c.571G= (p.Gly191=)
c.142G= (p.Gly48=)
c.616G= (p.Gly206=)
c.580G= (p.Gly194=)
n.841G=
6g.24596076C>GCA362971249KIAA0319c.598G>C (p.Gly200Arg)
c.463G>C (p.Gly155Arg)
c.571G>C (p.Gly191Arg)
c.142G>C (p.Gly48Arg)
c.616G>C (p.Gly206Arg)
c.580G>C (p.Gly194Arg)
n.841G>C
 dbSNP
6g.24596076C>TCA3657813KIAA0319c.598G>A (p.Gly200Arg)
c.463G>A (p.Gly155Arg)
c.571G>A (p.Gly191Arg)
c.142G>A (p.Gly48Arg)
c.616G>A (p.Gly206Arg)
c.580G>A (p.Gly194Arg)
n.841G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596077A>CCA448958834KIAA0319c.597T>G (p.Val199=)
c.462T>G (p.Val154=)
c.570T>G (p.Val190=)
c.141T>G (p.Val47=)
c.615T>G (p.Val205=)
c.579T>G (p.Val193=)
n.840T>G
6g.24596077A>GCA448958835KIAA0319c.597T>C (p.Val199=)
c.462T>C (p.Val154=)
c.570T>C (p.Val190=)
c.141T>C (p.Val47=)
c.615T>C (p.Val205=)
c.579T>C (p.Val193=)
n.840T>C
6g.24596077A>TCA448958836KIAA0319c.597T>A (p.Val199=)
c.462T>A (p.Val154=)
c.570T>A (p.Val190=)
c.141T>A (p.Val47=)
c.615T>A (p.Val205=)
c.579T>A (p.Val193=)
n.840T>A
6g.24596078A=CA1616548791KIAA0319c.596T= (p.Val199=)
c.461T= (p.Val154=)
c.569T= (p.Val190=)
c.140T= (p.Val47=)
c.614T= (p.Val205=)
c.578T= (p.Val193=)
n.839T=
6g.24596078A>CCA362971250KIAA0319c.596T>G (p.Val199Gly)
c.461T>G (p.Val154Gly)
c.569T>G (p.Val190Gly)
c.140T>G (p.Val47Gly)
c.614T>G (p.Val205Gly)
c.578T>G (p.Val193Gly)
n.839T>G
6g.24596078A>GCA362971251KIAA0319c.596T>C (p.Val199Ala)
c.461T>C (p.Val154Ala)
c.569T>C (p.Val190Ala)
c.140T>C (p.Val47Ala)
c.614T>C (p.Val205Ala)
c.578T>C (p.Val193Ala)
n.839T>C
 dbSNP gnomAD v4
6g.24596078A>TCA362971252KIAA0319c.596T>A (p.Val199Asp)
c.461T>A (p.Val154Asp)
c.569T>A (p.Val190Asp)
c.140T>A (p.Val47Asp)
c.614T>A (p.Val205Asp)
c.578T>A (p.Val193Asp)
n.839T>A
6g.24596079C>ACA362971254KIAA0319c.595G>T (p.Val199Phe)
c.460G>T (p.Val154Phe)
c.568G>T (p.Val190Phe)
c.139G>T (p.Val47Phe)
c.613G>T (p.Val205Phe)
c.577G>T (p.Val193Phe)
n.838G>T
 gnomAD v4
6g.24596079C>GCA362971255KIAA0319c.595G>C (p.Val199Leu)
c.460G>C (p.Val154Leu)
c.568G>C (p.Val190Leu)
c.139G>C (p.Val47Leu)
c.613G>C (p.Val205Leu)
c.577G>C (p.Val193Leu)
n.838G>C
6g.24596079C>TCA362971253KIAA0319c.595G>A (p.Val199Ile)
c.460G>A (p.Val154Ile)
c.568G>A (p.Val190Ile)
c.139G>A (p.Val47Ile)
c.613G>A (p.Val205Ile)
c.577G>A (p.Val193Ile)
n.838G>A
6g.24596080A=CA1616548792KIAA0319c.594T= (p.Ser198=)
c.459T= (p.Ser153=)
c.567T= (p.Ser189=)
c.138T= (p.Ser46=)
c.612T= (p.Ser204=)
c.576T= (p.Ser192=)
n.837T=
6g.24596080A>CCA448958838KIAA0319c.594T>G (p.Ser198=)
c.459T>G (p.Ser153=)
c.567T>G (p.Ser189=)
c.138T>G (p.Ser46=)
c.612T>G (p.Ser204=)
c.576T>G (p.Ser192=)
n.837T>G
6g.24596080A>GCA448958839KIAA0319c.594T>C (p.Ser198=)
c.459T>C (p.Ser153=)
c.567T>C (p.Ser189=)
c.138T>C (p.Ser46=)
c.612T>C (p.Ser204=)
c.576T>C (p.Ser192=)
n.837T>C
 dbSNP
6g.24596080A>TCA448958837KIAA0319c.594T>A (p.Ser198=)
c.459T>A (p.Ser153=)
c.567T>A (p.Ser189=)
c.138T>A (p.Ser46=)
c.612T>A (p.Ser204=)
c.576T>A (p.Ser192=)
n.837T>A
6g.24596081G>ACA362971256KIAA0319c.593C>T (p.Ser198Phe)
c.458C>T (p.Ser153Phe)
c.566C>T (p.Ser189Phe)
c.137C>T (p.Ser46Phe)
c.611C>T (p.Ser204Phe)
c.575C>T (p.Ser192Phe)
n.836C>T
 COSMIC
6g.24596081G>CCA362971257KIAA0319c.593C>G (p.Ser198Cys)
c.458C>G (p.Ser153Cys)
c.566C>G (p.Ser189Cys)
c.137C>G (p.Ser46Cys)
c.611C>G (p.Ser204Cys)
c.575C>G (p.Ser192Cys)
n.836C>G
 gnomAD v4
6g.24596081G>TCA362971258KIAA0319c.593C>A (p.Ser198Tyr)
c.458C>A (p.Ser153Tyr)
c.566C>A (p.Ser189Tyr)
c.137C>A (p.Ser46Tyr)
c.611C>A (p.Ser204Tyr)
c.575C>A (p.Ser192Tyr)
n.836C>A
6g.24596082A>CCA362971259KIAA0319c.592T>G (p.Ser198Ala)
c.457T>G (p.Ser153Ala)
c.565T>G (p.Ser189Ala)
c.136T>G (p.Ser46Ala)
c.610T>G (p.Ser204Ala)
c.574T>G (p.Ser192Ala)
n.835T>G
6g.24596082A>GCA362971260KIAA0319c.592T>C (p.Ser198Pro)
c.457T>C (p.Ser153Pro)
c.565T>C (p.Ser189Pro)
c.136T>C (p.Ser46Pro)
c.610T>C (p.Ser204Pro)
c.574T>C (p.Ser192Pro)
n.835T>C
6g.24596082A>TCA362971261KIAA0319c.592T>A (p.Ser198Thr)
c.457T>A (p.Ser153Thr)
c.565T>A (p.Ser189Thr)
c.136T>A (p.Ser46Thr)
c.610T>A (p.Ser204Thr)
c.574T>A (p.Ser192Thr)
n.835T>A
6g.24596083G>ACA448958840KIAA0319c.591C>T (p.Ser197=)
c.456C>T (p.Ser152=)
c.564C>T (p.Ser188=)
c.135C>T (p.Ser45=)
c.609C>T (p.Ser203=)
c.573C>T (p.Ser191=)
n.834C>T
 COSMIC
6g.24596083G>CCA448958841KIAA0319c.591C>G (p.Ser197=)
c.456C>G (p.Ser152=)
c.564C>G (p.Ser188=)
c.135C>G (p.Ser45=)
c.609C>G (p.Ser203=)
c.573C>G (p.Ser191=)
n.834C>G
6g.24596083G>TCA448958842KIAA0319c.591C>A (p.Ser197=)
c.456C>A (p.Ser152=)
c.564C>A (p.Ser188=)
c.135C>A (p.Ser45=)
c.609C>A (p.Ser203=)
c.573C>A (p.Ser191=)
n.834C>A
6g.24596084G>ACA362971264KIAA0319c.590C>T (p.Ser197Phe)
c.455C>T (p.Ser152Phe)
c.563C>T (p.Ser188Phe)
c.134C>T (p.Ser45Phe)
c.608C>T (p.Ser203Phe)
c.572C>T (p.Ser191Phe)
n.833C>T
 dbSNP gnomAD v4 COSMIC
6g.24596084G>CCA362971262KIAA0319c.590C>G (p.Ser197Cys)
c.455C>G (p.Ser152Cys)
c.563C>G (p.Ser188Cys)
c.134C>G (p.Ser45Cys)
c.608C>G (p.Ser203Cys)
c.572C>G (p.Ser191Cys)
n.833C>G
6g.24596084G=CA1616548793KIAA0319c.590C= (p.Ser197=)
c.455C= (p.Ser152=)
c.563C= (p.Ser188=)
c.134C= (p.Ser45=)
c.608C= (p.Ser203=)
c.572C= (p.Ser191=)
n.833C=
6g.24596084G>TCA362971263KIAA0319c.590C>A (p.Ser197Tyr)
c.455C>A (p.Ser152Tyr)
c.563C>A (p.Ser188Tyr)
c.134C>A (p.Ser45Tyr)
c.608C>A (p.Ser203Tyr)
c.572C>A (p.Ser191Tyr)
n.833C>A
 dbSNP gnomAD v3 gnomAD v4
6g.24596085A>CCA362971265KIAA0319c.589T>G (p.Ser197Ala)
c.454T>G (p.Ser152Ala)
c.562T>G (p.Ser188Ala)
c.133T>G (p.Ser45Ala)
c.607T>G (p.Ser203Ala)
c.571T>G (p.Ser191Ala)
n.832T>G
6g.24596085A>GCA362971266KIAA0319c.589T>C (p.Ser197Pro)
c.454T>C (p.Ser152Pro)
c.562T>C (p.Ser188Pro)
c.133T>C (p.Ser45Pro)
c.607T>C (p.Ser203Pro)
c.571T>C (p.Ser191Pro)
n.832T>C
6g.24596085A>TCA362971267KIAA0319c.589T>A (p.Ser197Thr)
c.454T>A (p.Ser152Thr)
c.562T>A (p.Ser188Thr)
c.133T>A (p.Ser45Thr)
c.607T>A (p.Ser203Thr)
c.571T>A (p.Ser191Thr)
n.832T>A
6g.24596086delCA2677536144KIAA0319c.588del (p.Ser197ProfsTer22)
c.453del (p.Ser152ProfsTer22)
c.561del (p.Ser188ProfsTer22)
c.132del (p.Ser45ProfsTer22)
c.606del (p.Ser203ProfsTer22)
c.570del (p.Ser191ProfsTer22)
n.831del
 gnomAD v4
6g.24596086G>ACA448958843KIAA0319c.588C>T (p.Asn196=)
c.453C>T (p.Asn151=)
c.561C>T (p.Asn187=)
c.132C>T (p.Asn44=)
c.606C>T (p.Asn202=)
c.570C>T (p.Asn190=)
n.831C>T
6g.24596086G>CCA362971268KIAA0319c.588C>G (p.Asn196Lys)
c.453C>G (p.Asn151Lys)
c.561C>G (p.Asn187Lys)
c.132C>G (p.Asn44Lys)
c.606C>G (p.Asn202Lys)
c.570C>G (p.Asn190Lys)
n.831C>G
6g.24596086G>TCA362971269KIAA0319c.588C>A (p.Asn196Lys)
c.453C>A (p.Asn151Lys)
c.561C>A (p.Asn187Lys)
c.132C>A (p.Asn44Lys)
c.606C>A (p.Asn202Lys)
c.570C>A (p.Asn190Lys)
n.831C>A
6g.24596087T>ACA362971270KIAA0319c.587A>T (p.Asn196Ile)
c.452A>T (p.Asn151Ile)
c.560A>T (p.Asn187Ile)
c.131A>T (p.Asn44Ile)
c.605A>T (p.Asn202Ile)
c.569A>T (p.Asn190Ile)
n.830A>T
6g.24596087T>CCA3657814KIAA0319c.587A>G (p.Asn196Ser)
c.452A>G (p.Asn151Ser)
c.560A>G (p.Asn187Ser)
c.131A>G (p.Asn44Ser)
c.605A>G (p.Asn202Ser)
c.569A>G (p.Asn190Ser)
n.830A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.24596087T>GCA362971271KIAA0319c.587A>C (p.Asn196Thr)
c.452A>C (p.Asn151Thr)
c.560A>C (p.Asn187Thr)
c.131A>C (p.Asn44Thr)
c.605A>C (p.Asn202Thr)
c.569A>C (p.Asn190Thr)
n.830A>C
6g.24596087T=CA1616548794KIAA0319c.587A= (p.Asn196=)
c.452A= (p.Asn151=)
c.560A= (p.Asn187=)
c.131A= (p.Asn44=)
c.605A= (p.Asn202=)
c.569A= (p.Asn190=)
n.830A=
6g.24596088T>ACA362971272KIAA0319c.586A>T (p.Asn196Tyr)
c.451A>T (p.Asn151Tyr)
c.559A>T (p.Asn187Tyr)
c.130A>T (p.Asn44Tyr)
c.604A>T (p.Asn202Tyr)
c.568A>T (p.Asn190Tyr)
n.829A>T
6g.24596088T>CCA362971273KIAA0319c.586A>G (p.Asn196Asp)
c.451A>G (p.Asn151Asp)
c.559A>G (p.Asn187Asp)
c.130A>G (p.Asn44Asp)
c.604A>G (p.Asn202Asp)
c.568A>G (p.Asn190Asp)
n.829A>G
6g.24596088T>GCA362971274KIAA0319c.586A>C (p.Asn196His)
c.451A>C (p.Asn151His)
c.559A>C (p.Asn187His)
c.130A>C (p.Asn44His)
c.604A>C (p.Asn202His)
c.568A>C (p.Asn190His)
n.829A>C
6g.24596089G>ACA448958844KIAA0319c.585C>T (p.Phe195=)
c.450C>T (p.Phe150=)
c.558C>T (p.Phe186=)
c.129C>T (p.Phe43=)
c.603C>T (p.Phe201=)
c.567C>T (p.Phe189=)
n.828C>T
6g.24596089G>CCA362971275KIAA0319c.585C>G (p.Phe195Leu)
c.450C>G (p.Phe150Leu)
c.558C>G (p.Phe186Leu)
c.129C>G (p.Phe43Leu)
c.603C>G (p.Phe201Leu)
c.567C>G (p.Phe189Leu)
n.828C>G
 gnomAD v4
6g.24596089G>TCA362971276KIAA0319c.585C>A (p.Phe195Leu)
c.450C>A (p.Phe150Leu)
c.558C>A (p.Phe186Leu)
c.129C>A (p.Phe43Leu)
c.603C>A (p.Phe201Leu)
c.567C>A (p.Phe189Leu)
n.828C>A
6g.24596090A>CCA362971277KIAA0319c.584T>G (p.Phe195Cys)
c.449T>G (p.Phe150Cys)
c.557T>G (p.Phe186Cys)
c.128T>G (p.Phe43Cys)
c.602T>G (p.Phe201Cys)
c.566T>G (p.Phe189Cys)
n.827T>G
6g.24596090A>GCA362971278KIAA0319c.584T>C (p.Phe195Ser)
c.449T>C (p.Phe150Ser)
c.557T>C (p.Phe186Ser)
c.128T>C (p.Phe43Ser)
c.602T>C (p.Phe201Ser)
c.566T>C (p.Phe189Ser)
n.827T>C
6g.24596090A>TCA362971279KIAA0319c.584T>A (p.Phe195Tyr)
c.449T>A (p.Phe150Tyr)
c.557T>A (p.Phe186Tyr)
c.128T>A (p.Phe43Tyr)
c.602T>A (p.Phe201Tyr)
c.566T>A (p.Phe189Tyr)
n.827T>A
6g.24596091A>CCA362971280KIAA0319c.583T>G (p.Phe195Val)
c.448T>G (p.Phe150Val)
c.556T>G (p.Phe186Val)
c.127T>G (p.Phe43Val)
c.601T>G (p.Phe201Val)
c.565T>G (p.Phe189Val)
n.826T>G
6g.24596091A>GCA362971281KIAA0319c.583T>C (p.Phe195Leu)
c.448T>C (p.Phe150Leu)
c.556T>C (p.Phe186Leu)
c.127T>C (p.Phe43Leu)
c.601T>C (p.Phe201Leu)
c.565T>C (p.Phe189Leu)
n.826T>C
 COSMIC
6g.24596091A>TCA362971282KIAA0319c.583T>A (p.Phe195Ile)
c.448T>A (p.Phe150Ile)
c.556T>A (p.Phe186Ile)
c.127T>A (p.Phe43Ile)
c.601T>A (p.Phe201Ile)
c.565T>A (p.Phe189Ile)
n.826T>A
6g.24596092G>ACA448958845KIAA0319c.582C>T (p.Ala194=)
c.447C>T (p.Ala149=)
c.555C>T (p.Ala185=)
c.126C>T (p.Ala42=)
c.600C>T (p.Ala200=)
c.564C>T (p.Ala188=)
n.825C>T
 dbSNP gnomAD v3 gnomAD v4
6g.24596092G>CCA448958846KIAA0319c.582C>G (p.Ala194=)
c.447C>G (p.Ala149=)
c.555C>G (p.Ala185=)
c.126C>G (p.Ala42=)
c.600C>G (p.Ala200=)
c.564C>G (p.Ala188=)
n.825C>G
6g.24596092G=CA1616548795KIAA0319c.582C= (p.Ala194=)
c.447C= (p.Ala149=)
c.555C= (p.Ala185=)
c.126C= (p.Ala42=)
c.600C= (p.Ala200=)
c.564C= (p.Ala188=)
n.825C=
6g.24596092G>TCA448958847KIAA0319c.582C>A (p.Ala194=)
c.447C>A (p.Ala149=)
c.555C>A (p.Ala185=)
c.126C>A (p.Ala42=)
c.600C>A (p.Ala200=)
c.564C>A (p.Ala188=)
n.825C>A
6g.24596093G>ACA362971285KIAA0319c.581C>T (p.Ala194Val)
c.446C>T (p.Ala149Val)
c.554C>T (p.Ala185Val)
c.125C>T (p.Ala42Val)
c.599C>T (p.Ala200Val)
c.563C>T (p.Ala188Val)
n.824C>T
 gnomAD v4
6g.24596093G>CCA362971284KIAA0319c.581C>G (p.Ala194Gly)
c.446C>G (p.Ala149Gly)
c.554C>G (p.Ala185Gly)
c.125C>G (p.Ala42Gly)
c.599C>G (p.Ala200Gly)
c.563C>G (p.Ala188Gly)
n.824C>G
6g.24596093G>TCA362971283KIAA0319c.581C>A (p.Ala194Asp)
c.446C>A (p.Ala149Asp)
c.554C>A (p.Ala185Asp)
c.125C>A (p.Ala42Asp)
c.599C>A (p.Ala200Asp)
c.563C>A (p.Ala188Asp)
n.824C>A
6g.24596094C>ACA362971286KIAA0319c.580G>T (p.Ala194Ser)
c.445G>T (p.Ala149Ser)
c.553G>T (p.Ala185Ser)
c.124G>T (p.Ala42Ser)
c.598G>T (p.Ala200Ser)
c.562G>T (p.Ala188Ser)
n.823G>T
6g.24596094C>GCA362971288KIAA0319c.580G>C (p.Ala194Pro)
c.445G>C (p.Ala149Pro)
c.553G>C (p.Ala185Pro)
c.124G>C (p.Ala42Pro)
c.598G>C (p.Ala200Pro)
c.562G>C (p.Ala188Pro)
n.823G>C
6g.24596094C>TCA362971287KIAA0319c.580G>A (p.Ala194Thr)
c.445G>A (p.Ala149Thr)
c.553G>A (p.Ala185Thr)
c.124G>A (p.Ala42Thr)
c.598G>A (p.Ala200Thr)
c.562G>A (p.Ala188Thr)
n.823G>A
 gnomAD v4
6g.24596095C>ACA448958848KIAA0319c.579G>T (p.Gly193=)
c.444G>T (p.Gly148=)
c.552G>T (p.Gly184=)
c.123G>T (p.Gly41=)
c.597G>T (p.Gly199=)
c.561G>T (p.Gly187=)
n.822G>T
 dbSNP gnomAD v3 gnomAD v4
6g.24596095C=CA1616548796KIAA0319c.579G= (p.Gly193=)
c.444G= (p.Gly148=)
c.552G= (p.Gly184=)
c.123G= (p.Gly41=)
c.597G= (p.Gly199=)
c.561G= (p.Gly187=)
n.822G=
6g.24596095C>GCA448958849KIAA0319c.579G>C (p.Gly193=)
c.444G>C (p.Gly148=)
c.552G>C (p.Gly184=)
c.123G>C (p.Gly41=)
c.597G>C (p.Gly199=)
c.561G>C (p.Gly187=)
n.822G>C
6g.24596095C>TCA448958850KIAA0319c.579G>A (p.Gly193=)
c.444G>A (p.Gly148=)
c.552G>A (p.Gly184=)
c.123G>A (p.Gly41=)
c.597G>A (p.Gly199=)
c.561G>A (p.Gly187=)
n.822G>A
 gnomAD v4
6g.24596096C>ACA362971289KIAA0319c.578G>T (p.Gly193Val)
c.443G>T (p.Gly148Val)
c.551G>T (p.Gly184Val)
c.122G>T (p.Gly41Val)
c.596G>T (p.Gly199Val)
c.560G>T (p.Gly187Val)
n.821G>T
6g.24596096C>GCA362971290KIAA0319c.578G>C (p.Gly193Ala)
c.443G>C (p.Gly148Ala)
c.551G>C (p.Gly184Ala)
c.122G>C (p.Gly41Ala)
c.596G>C (p.Gly199Ala)
c.560G>C (p.Gly187Ala)
n.821G>C
6g.24596096C>TCA362971291KIAA0319c.578G>A (p.Gly193Glu)
c.443G>A (p.Gly148Glu)
c.551G>A (p.Gly184Glu)
c.122G>A (p.Gly41Glu)
c.596G>A (p.Gly199Glu)
c.560G>A (p.Gly187Glu)
n.821G>A
6g.24596097C>ACA362971292KIAA0319c.577G>T (p.Gly193Trp)
c.442G>T (p.Gly148Trp)
c.550G>T (p.Gly184Trp)
c.121G>T (p.Gly41Trp)
c.595G>T (p.Gly199Trp)
c.559G>T (p.Gly187Trp)
n.820G>T
6g.24596097C>GCA362971293KIAA0319c.577G>C (p.Gly193Arg)
c.442G>C (p.Gly148Arg)
c.550G>C (p.Gly184Arg)
c.121G>C (p.Gly41Arg)
c.595G>C (p.Gly199Arg)
c.559G>C (p.Gly187Arg)
n.820G>C
6g.24596097C>TCA362971294KIAA0319c.577G>A (p.Gly193Arg)
c.442G>A (p.Gly148Arg)
c.550G>A (p.Gly184Arg)
c.121G>A (p.Gly41Arg)
c.595G>A (p.Gly199Arg)
c.559G>A (p.Gly187Arg)
n.820G>A
 COSMIC
6g.24596098C>ACA362971295KIAA0319c.576G>T (p.Glu192Asp)
c.441G>T (p.Glu147Asp)
c.549G>T (p.Glu183Asp)
c.120G>T (p.Glu40Asp)
c.594G>T (p.Glu198Asp)
c.558G>T (p.Glu186Asp)
n.819G>T
6g.24596098C=CA1616548797KIAA0319c.576G= (p.Glu192=)
c.441G= (p.Glu147=)
c.549G= (p.Glu183=)
c.120G= (p.Glu40=)
c.594G= (p.Glu198=)
c.558G= (p.Glu186=)
n.819G=
6g.24596098C>GCA362971296KIAA0319c.576G>C (p.Glu192Asp)
c.441G>C (p.Glu147Asp)
c.549G>C (p.Glu183Asp)
c.120G>C (p.Glu40Asp)
c.594G>C (p.Glu198Asp)
c.558G>C (p.Glu186Asp)
n.819G>C
6g.24596098C>TCA448958851KIAA0319c.576G>A (p.Glu192=)
c.441G>A (p.Glu147=)
c.549G>A (p.Glu183=)
c.120G>A (p.Glu40=)
c.594G>A (p.Glu198=)
c.558G>A (p.Glu186=)
n.819G>A
 dbSNP gnomAD v4
6g.24596099T>ACA362971297KIAA0319c.575A>T (p.Glu192Val)
c.440A>T (p.Glu147Val)
c.548A>T (p.Glu183Val)
c.119A>T (p.Glu40Val)
c.593A>T (p.Glu198Val)
c.557A>T (p.Glu186Val)
n.818A>T
 gnomAD v4
6g.24596099T>CCA362971298KIAA0319c.575A>G (p.Glu192Gly)
c.440A>G (p.Glu147Gly)
c.548A>G (p.Glu183Gly)
c.119A>G (p.Glu40Gly)
c.593A>G (p.Glu198Gly)
c.557A>G (p.Glu186Gly)
n.818A>G
6g.24596099T>GCA362971299KIAA0319c.575A>C (p.Glu192Ala)
c.440A>C (p.Glu147Ala)
c.548A>C (p.Glu183Ala)
c.119A>C (p.Glu40Ala)
c.593A>C (p.Glu198Ala)
c.557A>C (p.Glu186Ala)
n.818A>C
6g.24596100C>ACA362971301KIAA0319c.574G>T (p.Glu192Ter)
c.439G>T (p.Glu147Ter)
c.547G>T (p.Glu183Ter)
c.118G>T (p.Glu40Ter)
c.592G>T (p.Glu198Ter)
c.556G>T (p.Glu186Ter)
n.817G>T
6g.24596100C=CA1616548798KIAA0319c.574G= (p.Glu192=)
c.439G= (p.Glu147=)
c.547G= (p.Glu183=)
c.118G= (p.Glu40=)
c.592G= (p.Glu198=)
c.556G= (p.Glu186=)
n.817G=
6g.24596100C>GCA362971300KIAA0319c.574G>C (p.Glu192Gln)
c.439G>C (p.Glu147Gln)
c.547G>C (p.Glu183Gln)
c.118G>C (p.Glu40Gln)
c.592G>C (p.Glu198Gln)
c.556G>C (p.Glu186Gln)
n.817G>C
6g.24596100C>TCA3657815KIAA0319c.574G>A (p.Glu192Lys)
c.439G>A (p.Glu147Lys)
c.547G>A (p.Glu183Lys)
c.118G>A (p.Glu40Lys)
c.592G>A (p.Glu198Lys)
c.556G>A (p.Glu186Lys)
n.817G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596101G>ACA3657816KIAA0319c.573C>T (p.Ser191=)
c.438C>T (p.Ser146=)
c.546C>T (p.Ser182=)
c.117C>T (p.Ser39=)
c.591C>T (p.Ser197=)
c.555C>T (p.Ser185=)
n.816C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596101G>CCA362971302KIAA0319c.573C>G (p.Ser191Arg)
c.438C>G (p.Ser146Arg)
c.546C>G (p.Ser182Arg)
c.117C>G (p.Ser39Arg)
c.591C>G (p.Ser197Arg)
c.555C>G (p.Ser185Arg)
n.816C>G
6g.24596101G=CA1616548799KIAA0319c.573C= (p.Ser191=)
c.438C= (p.Ser146=)
c.546C= (p.Ser182=)
c.117C= (p.Ser39=)
c.591C= (p.Ser197=)
c.555C= (p.Ser185=)
n.816C=
6g.24596101G>TCA362971303KIAA0319c.573C>A (p.Ser191Arg)
c.438C>A (p.Ser146Arg)
c.546C>A (p.Ser182Arg)
c.117C>A (p.Ser39Arg)
c.591C>A (p.Ser197Arg)
c.555C>A (p.Ser185Arg)
n.816C>A
6g.24596102C>ACA362971304KIAA0319c.572G>T (p.Ser191Ile)
c.437G>T (p.Ser146Ile)
c.545G>T (p.Ser182Ile)
c.116G>T (p.Ser39Ile)
c.590G>T (p.Ser197Ile)
c.554G>T (p.Ser185Ile)
n.815G>T
6g.24596102C>GCA362971305KIAA0319c.572G>C (p.Ser191Thr)
c.437G>C (p.Ser146Thr)
c.545G>C (p.Ser182Thr)
c.116G>C (p.Ser39Thr)
c.590G>C (p.Ser197Thr)
c.554G>C (p.Ser185Thr)
n.815G>C
6g.24596102C>TCA362971306KIAA0319c.572G>A (p.Ser191Asn)
c.437G>A (p.Ser146Asn)
c.545G>A (p.Ser182Asn)
c.116G>A (p.Ser39Asn)
c.590G>A (p.Ser197Asn)
c.554G>A (p.Ser185Asn)
n.815G>A
6g.24596103T>ACA362971307KIAA0319c.571A>T (p.Ser191Cys)
c.436A>T (p.Ser146Cys)
c.544A>T (p.Ser182Cys)
c.115A>T (p.Ser39Cys)
c.589A>T (p.Ser197Cys)
c.553A>T (p.Ser185Cys)
n.814A>T
6g.24596103T>CCA362971308KIAA0319c.571A>G (p.Ser191Gly)
c.436A>G (p.Ser146Gly)
c.544A>G (p.Ser182Gly)
c.115A>G (p.Ser39Gly)
c.589A>G (p.Ser197Gly)
c.553A>G (p.Ser185Gly)
n.814A>G
 dbSNP gnomAD v2 gnomAD v4
6g.24596103T>GCA362971309KIAA0319c.571A>C (p.Ser191Arg)
c.436A>C (p.Ser146Arg)
c.544A>C (p.Ser182Arg)
c.115A>C (p.Ser39Arg)
c.589A>C (p.Ser197Arg)
c.553A>C (p.Ser185Arg)
n.814A>C
6g.24596103T=CA1616548800KIAA0319c.571A= (p.Ser191=)
c.436A= (p.Ser146=)
c.544A= (p.Ser182=)
c.115A= (p.Ser39=)
c.589A= (p.Ser197=)
c.553A= (p.Ser185=)
n.814A=
6g.24596104G>ACA448958852KIAA0319c.570C>T (p.Gly190=)
c.435C>T (p.Gly145=)
c.543C>T (p.Gly181=)
c.114C>T (p.Gly38=)
c.588C>T (p.Gly196=)
c.552C>T (p.Gly184=)
n.813C>T
 dbSNP gnomAD v4
6g.24596104G>CCA448958853KIAA0319c.570C>G (p.Gly190=)
c.435C>G (p.Gly145=)
c.543C>G (p.Gly181=)
c.114C>G (p.Gly38=)
c.588C>G (p.Gly196=)
c.552C>G (p.Gly184=)
n.813C>G
6g.24596104G=CA1616548801KIAA0319c.570C= (p.Gly190=)
c.435C= (p.Gly145=)
c.543C= (p.Gly181=)
c.114C= (p.Gly38=)
c.588C= (p.Gly196=)
c.552C= (p.Gly184=)
n.813C=
6g.24596104G>TCA448958854KIAA0319c.570C>A (p.Gly190=)
c.435C>A (p.Gly145=)
c.543C>A (p.Gly181=)
c.114C>A (p.Gly38=)
c.588C>A (p.Gly196=)
c.552C>A (p.Gly184=)
n.813C>A
6g.24596105C>ACA362971310KIAA0319c.569G>T (p.Gly190Val)
c.434G>T (p.Gly145Val)
c.542G>T (p.Gly181Val)
c.113G>T (p.Gly38Val)
c.587G>T (p.Gly196Val)
c.551G>T (p.Gly184Val)
n.812G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24596105C=CA1616548802KIAA0319c.569G= (p.Gly190=)
c.434G= (p.Gly145=)
c.542G= (p.Gly181=)
c.113G= (p.Gly38=)
c.587G= (p.Gly196=)
c.551G= (p.Gly184=)
n.812G=
6g.24596105C>GCA362971311KIAA0319c.569G>C (p.Gly190Ala)
c.434G>C (p.Gly145Ala)
c.542G>C (p.Gly181Ala)
c.113G>C (p.Gly38Ala)
c.587G>C (p.Gly196Ala)
c.551G>C (p.Gly184Ala)
n.812G>C
 gnomAD v4
6g.24596105C>TCA362971312KIAA0319c.569G>A (p.Gly190Asp)
c.434G>A (p.Gly145Asp)
c.542G>A (p.Gly181Asp)
c.113G>A (p.Gly38Asp)
c.587G>A (p.Gly196Asp)
c.551G>A (p.Gly184Asp)
n.812G>A
6g.24596105_24596106insACTGCTTACA2677536174KIAA0319c.568_569insTAAGCAGT (p.Gly190ValfsTer32)
c.433_434insTAAGCAGT (p.Gly145ValfsTer32)
c.541_542insTAAGCAGT (p.Gly181ValfsTer32)
c.112_113insTAAGCAGT (p.Gly38ValfsTer32)
c.586_587insTAAGCAGT (p.Gly196ValfsTer32)
c.550_551insTAAGCAGT (p.Gly184ValfsTer32)
n.811_812insTAAGCAGT
 gnomAD v4
6g.24596106C>ACA3657817KIAA0319c.568G>T (p.Gly190Cys)
c.433G>T (p.Gly145Cys)
c.541G>T (p.Gly181Cys)
c.112G>T (p.Gly38Cys)
c.586G>T (p.Gly196Cys)
c.550G>T (p.Gly184Cys)
n.811G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596106C=CA1616548803KIAA0319c.568G= (p.Gly190=)
c.433G= (p.Gly145=)
c.541G= (p.Gly181=)
c.112G= (p.Gly38=)
c.586G= (p.Gly196=)
c.550G= (p.Gly184=)
n.811G=
6g.24596106C>GCA362971314KIAA0319c.568G>C (p.Gly190Arg)
c.433G>C (p.Gly145Arg)
c.541G>C (p.Gly181Arg)
c.112G>C (p.Gly38Arg)
c.586G>C (p.Gly196Arg)
c.550G>C (p.Gly184Arg)
n.811G>C
6g.24596106C>TCA362971313KIAA0319c.568G>A (p.Gly190Ser)
c.433G>A (p.Gly145Ser)
c.541G>A (p.Gly181Ser)
c.112G>A (p.Gly38Ser)
c.586G>A (p.Gly196Ser)
c.550G>A (p.Gly184Ser)
n.811G>A
6g.24596107C>ACA448958855KIAA0319c.567G>T (p.Pro189=)
c.432G>T (p.Pro144=)
c.540G>T (p.Pro180=)
c.111G>T (p.Pro37=)
c.585G>T (p.Pro195=)
c.549G>T (p.Pro183=)
n.810G>T
 gnomAD v4
6g.24596107C=CA1616548804KIAA0319c.567G= (p.Pro189=)
c.432G= (p.Pro144=)
c.540G= (p.Pro180=)
c.111G= (p.Pro37=)
c.585G= (p.Pro195=)
c.549G= (p.Pro183=)
n.810G=
6g.24596107C>GCA448958856KIAA0319c.567G>C (p.Pro189=)
c.432G>C (p.Pro144=)
c.540G>C (p.Pro180=)
c.111G>C (p.Pro37=)
c.585G>C (p.Pro195=)
c.549G>C (p.Pro183=)
n.810G>C
 gnomAD v4
6g.24596107C>TCA3657818KIAA0319c.567G>A (p.Pro189=)
c.432G>A (p.Pro144=)
c.540G>A (p.Pro180=)
c.111G>A (p.Pro37=)
c.585G>A (p.Pro195=)
c.549G>A (p.Pro183=)
n.810G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.24596108G>ACA3657819KIAA0319c.566C>T (p.Pro189Leu)
c.431C>T (p.Pro144Leu)
c.539C>T (p.Pro180Leu)
c.110C>T (p.Pro37Leu)
c.584C>T (p.Pro195Leu)
c.548C>T (p.Pro183Leu)
n.809C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596108G>CCA362971315KIAA0319c.566C>G (p.Pro189Arg)
c.431C>G (p.Pro144Arg)
c.539C>G (p.Pro180Arg)
c.110C>G (p.Pro37Arg)
c.584C>G (p.Pro195Arg)
c.548C>G (p.Pro183Arg)
n.809C>G
 gnomAD v4
6g.24596108G=CA1616548805KIAA0319c.566C= (p.Pro189=)
c.431C= (p.Pro144=)
c.539C= (p.Pro180=)
c.110C= (p.Pro37=)
c.584C= (p.Pro195=)
c.548C= (p.Pro183=)
n.809C=
6g.24596108G>TCA362971316KIAA0319c.566C>A (p.Pro189Gln)
c.431C>A (p.Pro144Gln)
c.539C>A (p.Pro180Gln)
c.110C>A (p.Pro37Gln)
c.584C>A (p.Pro195Gln)
c.548C>A (p.Pro183Gln)
n.809C>A
 gnomAD v4
6g.24596109G>ACA136131384KIAA0319c.565C>T (p.Pro189Ser)
c.430C>T (p.Pro144Ser)
c.538C>T (p.Pro180Ser)
c.109C>T (p.Pro37Ser)
c.583C>T (p.Pro195Ser)
c.547C>T (p.Pro183Ser)
n.808C>T
 dbSNP gnomAD v2 gnomAD v4
6g.24596109G>CCA362971317KIAA0319c.565C>G (p.Pro189Ala)
c.430C>G (p.Pro144Ala)
c.538C>G (p.Pro180Ala)
c.109C>G (p.Pro37Ala)
c.583C>G (p.Pro195Ala)
c.547C>G (p.Pro183Ala)
n.808C>G
 gnomAD v4
6g.24596109G=CA1616548806KIAA0319c.565C= (p.Pro189=)
c.430C= (p.Pro144=)
c.538C= (p.Pro180=)
c.109C= (p.Pro37=)
c.583C= (p.Pro195=)
c.547C= (p.Pro183=)
n.808C=
6g.24596109G>TCA362971318KIAA0319c.565C>A (p.Pro189Thr)
c.430C>A (p.Pro144Thr)
c.538C>A (p.Pro180Thr)
c.109C>A (p.Pro37Thr)
c.583C>A (p.Pro195Thr)
c.547C>A (p.Pro183Thr)
n.808C>A
6g.24596110C>ACA448958857KIAA0319c.564G>T (p.Leu188=)
c.429G>T (p.Leu143=)
c.537G>T (p.Leu179=)
c.108G>T (p.Leu36=)
c.582G>T (p.Leu194=)
c.546G>T (p.Leu182=)
n.807G>T
 dbSNP gnomAD v4
6g.24596110C=CA1616548807KIAA0319c.564G= (p.Leu188=)
c.429G= (p.Leu143=)
c.537G= (p.Leu179=)
c.108G= (p.Leu36=)
c.582G= (p.Leu194=)
c.546G= (p.Leu182=)
n.807G=
6g.24596110C>GCA448958858KIAA0319c.564G>C (p.Leu188=)
c.429G>C (p.Leu143=)
c.537G>C (p.Leu179=)
c.108G>C (p.Leu36=)
c.582G>C (p.Leu194=)
c.546G>C (p.Leu182=)
n.807G>C
 gnomAD v4
6g.24596110C>TCA448958859KIAA0319c.564G>A (p.Leu188=)
c.429G>A (p.Leu143=)
c.537G>A (p.Leu179=)
c.108G>A (p.Leu36=)
c.582G>A (p.Leu194=)
c.546G>A (p.Leu182=)
n.807G>A
6g.24596111A>CCA362971319KIAA0319c.563T>G (p.Leu188Arg)
c.428T>G (p.Leu143Arg)
c.536T>G (p.Leu179Arg)
c.107T>G (p.Leu36Arg)
c.581T>G (p.Leu194Arg)
c.545T>G (p.Leu182Arg)
n.806T>G
6g.24596111A>GCA362971321KIAA0319c.563T>C (p.Leu188Pro)
c.428T>C (p.Leu143Pro)
c.536T>C (p.Leu179Pro)
c.107T>C (p.Leu36Pro)
c.581T>C (p.Leu194Pro)
c.545T>C (p.Leu182Pro)
n.806T>C
6g.24596111A>TCA362971320KIAA0319c.563T>A (p.Leu188Gln)
c.428T>A (p.Leu143Gln)
c.536T>A (p.Leu179Gln)
c.107T>A (p.Leu36Gln)
c.581T>A (p.Leu194Gln)
c.545T>A (p.Leu182Gln)
n.806T>A
6g.24596112G>ACA3657820KIAA0319c.562C>T (p.Leu188=)
c.427C>T (p.Leu143=)
c.535C>T (p.Leu179=)
c.106C>T (p.Leu36=)
c.580C>T (p.Leu194=)
c.544C>T (p.Leu182=)
n.805C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596112G>CCA362971322KIAA0319c.562C>G (p.Leu188Val)
c.427C>G (p.Leu143Val)
c.535C>G (p.Leu179Val)
c.106C>G (p.Leu36Val)
c.580C>G (p.Leu194Val)
c.544C>G (p.Leu182Val)
n.805C>G
6g.24596112G=CA1616548808KIAA0319c.562C= (p.Leu188=)
c.427C= (p.Leu143=)
c.535C= (p.Leu179=)
c.106C= (p.Leu36=)
c.580C= (p.Leu194=)
c.544C= (p.Leu182=)
n.805C=
6g.24596112G>TCA362971323KIAA0319c.562C>A (p.Leu188Met)
c.427C>A (p.Leu143Met)
c.535C>A (p.Leu179Met)
c.106C>A (p.Leu36Met)
c.580C>A (p.Leu194Met)
c.544C>A (p.Leu182Met)
n.805C>A
6g.24596113T>ACA3657821KIAA0319c.561A>T (p.Leu187=)
c.426A>T (p.Leu142=)
c.534A>T (p.Leu178=)
c.105A>T (p.Leu35=)
c.579A>T (p.Leu193=)
c.543A>T (p.Leu181=)
n.804A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24596113T>CCA448958861KIAA0319c.561A>G (p.Leu187=)
c.426A>G (p.Leu142=)
c.534A>G (p.Leu178=)
c.105A>G (p.Leu35=)
c.579A>G (p.Leu193=)
c.543A>G (p.Leu181=)
n.804A>G
6g.24596113T>GCA448958860KIAA0319c.561A>C (p.Leu187=)
c.426A>C (p.Leu142=)
c.534A>C (p.Leu178=)
c.105A>C (p.Leu35=)
c.579A>C (p.Leu193=)
c.543A>C (p.Leu181=)
n.804A>C
6g.24596113T=CA1616548809KIAA0319c.561A= (p.Leu187=)
c.426A= (p.Leu142=)
c.534A= (p.Leu178=)
c.105A= (p.Leu35=)
c.579A= (p.Leu193=)
c.543A= (p.Leu181=)
n.804A=
6g.24596114A=CA1616548810KIAA0319c.560T= (p.Leu187=)
c.425T= (p.Leu142=)
c.533T= (p.Leu178=)
c.104T= (p.Leu35=)
c.578T= (p.Leu193=)
c.542T= (p.Leu181=)
n.803T=
6g.24596114A>CCA362971324KIAA0319c.560T>G (p.Leu187Arg)
c.425T>G (p.Leu142Arg)
c.533T>G (p.Leu178Arg)
c.104T>G (p.Leu35Arg)
c.578T>G (p.Leu193Arg)
c.542T>G (p.Leu181Arg)
n.803T>G
6g.24596114A>GCA3657822KIAA0319c.560T>C (p.Leu187Pro)
c.425T>C (p.Leu142Pro)
c.533T>C (p.Leu178Pro)
c.104T>C (p.Leu35Pro)
c.578T>C (p.Leu193Pro)
c.542T>C (p.Leu181Pro)
n.803T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596114A>TCA362971325KIAA0319c.560T>A (p.Leu187Gln)
c.425T>A (p.Leu142Gln)
c.533T>A (p.Leu178Gln)
c.104T>A (p.Leu35Gln)
c.578T>A (p.Leu193Gln)
c.542T>A (p.Leu181Gln)
n.803T>A
6g.24596115G>ACA448958862KIAA0319c.559C>T (p.Leu187=)
c.424C>T (p.Leu142=)
c.532C>T (p.Leu178=)
c.103C>T (p.Leu35=)
c.577C>T (p.Leu193=)
c.541C>T (p.Leu181=)
n.802C>T
 gnomAD v4
6g.24596115G>CCA362971326KIAA0319c.559C>G (p.Leu187Val)
c.424C>G (p.Leu142Val)
c.532C>G (p.Leu178Val)
c.103C>G (p.Leu35Val)
c.577C>G (p.Leu193Val)
c.541C>G (p.Leu181Val)
n.802C>G
6g.24596115G>TCA362971327KIAA0319c.559C>A (p.Leu187Ile)
c.424C>A (p.Leu142Ile)
c.532C>A (p.Leu178Ile)
c.103C>A (p.Leu35Ile)
c.577C>A (p.Leu193Ile)
c.541C>A (p.Leu181Ile)
n.802C>A
6g.24596116G>ACA448958865KIAA0319c.558C>T (p.Gly186=)
c.423C>T (p.Gly141=)
c.531C>T (p.Gly177=)
c.102C>T (p.Gly34=)
c.576C>T (p.Gly192=)
c.540C>T (p.Gly180=)
n.801C>T
 dbSNP
6g.24596116G>CCA448958864KIAA0319c.558C>G (p.Gly186=)
c.423C>G (p.Gly141=)
c.531C>G (p.Gly177=)
c.102C>G (p.Gly34=)
c.576C>G (p.Gly192=)
c.540C>G (p.Gly180=)
n.801C>G
6g.24596116G=CA1616548811KIAA0319c.558C= (p.Gly186=)
c.423C= (p.Gly141=)
c.531C= (p.Gly177=)
c.102C= (p.Gly34=)
c.576C= (p.Gly192=)
c.540C= (p.Gly180=)
n.801C=
6g.24596116G>TCA448958863KIAA0319c.558C>A (p.Gly186=)
c.423C>A (p.Gly141=)
c.531C>A (p.Gly177=)
c.102C>A (p.Gly34=)
c.576C>A (p.Gly192=)
c.540C>A (p.Gly180=)
n.801C>A
 dbSNP gnomAD v2 gnomAD v4
6g.24596117C>ACA362971328KIAA0319c.557G>T (p.Gly186Val)
c.422G>T (p.Gly141Val)
c.530G>T (p.Gly177Val)
c.101G>T (p.Gly34Val)
c.575G>T (p.Gly192Val)
c.539G>T (p.Gly180Val)
n.800G>T
6g.24596117C>GCA362971329KIAA0319c.557G>C (p.Gly186Ala)
c.422G>C (p.Gly141Ala)
c.530G>C (p.Gly177Ala)
c.101G>C (p.Gly34Ala)
c.575G>C (p.Gly192Ala)
c.539G>C (p.Gly180Ala)
n.800G>C
6g.24596117C>TCA362971330KIAA0319c.557G>A (p.Gly186Asp)
c.422G>A (p.Gly141Asp)
c.530G>A (p.Gly177Asp)
c.101G>A (p.Gly34Asp)
c.575G>A (p.Gly192Asp)
c.539G>A (p.Gly180Asp)
n.800G>A
 gnomAD v4
6g.24596118C>ACA362971331KIAA0319c.556G>T (p.Gly186Cys)
c.421G>T (p.Gly141Cys)
c.529G>T (p.Gly177Cys)
c.100G>T (p.Gly34Cys)
c.574G>T (p.Gly192Cys)
c.538G>T (p.Gly180Cys)
n.799G>T
 dbSNP gnomAD v2 gnomAD v4
6g.24596118C=CA1616548812KIAA0319c.556G= (p.Gly186=)
c.421G= (p.Gly141=)
c.529G= (p.Gly177=)
c.100G= (p.Gly34=)
c.574G= (p.Gly192=)
c.538G= (p.Gly180=)
n.799G=
6g.24596118C>GCA362971332KIAA0319c.556G>C (p.Gly186Arg)
c.421G>C (p.Gly141Arg)
c.529G>C (p.Gly177Arg)
c.100G>C (p.Gly34Arg)
c.574G>C (p.Gly192Arg)
c.538G>C (p.Gly180Arg)
n.799G>C
6g.24596118C>TCA362971333KIAA0319c.556G>A (p.Gly186Ser)
c.421G>A (p.Gly141Ser)
c.529G>A (p.Gly177Ser)
c.100G>A (p.Gly34Ser)
c.574G>A (p.Gly192Ser)
c.538G>A (p.Gly180Ser)
n.799G>A
 COSMIC
6g.24596119C>ACA362971334KIAA0319c.555G>T (p.Trp185Cys)
c.420G>T (p.Trp140Cys)
c.528G>T (p.Trp176Cys)
c.99G>T (p.Trp33Cys)
c.573G>T (p.Trp191Cys)
c.537G>T (p.Trp179Cys)
n.798G>T
 gnomAD v4
6g.24596119C>GCA362971335KIAA0319c.555G>C (p.Trp185Cys)
c.420G>C (p.Trp140Cys)
c.528G>C (p.Trp176Cys)
c.99G>C (p.Trp33Cys)
c.573G>C (p.Trp191Cys)
c.537G>C (p.Trp179Cys)
n.798G>C
6g.24596119C>TCA362971336KIAA0319c.555G>A (p.Trp185Ter)
c.420G>A (p.Trp140Ter)
c.528G>A (p.Trp176Ter)
c.99G>A (p.Trp33Ter)
c.573G>A (p.Trp191Ter)
c.537G>A (p.Trp179Ter)
n.798G>A
 gnomAD v4
6g.24596120C>ACA362971338KIAA0319c.554G>T (p.Trp185Leu)
c.419G>T (p.Trp140Leu)
c.527G>T (p.Trp176Leu)
c.98G>T (p.Trp33Leu)
c.572G>T (p.Trp191Leu)
c.536G>T (p.Trp179Leu)
n.797G>T
 gnomAD v4
6g.24596120C>GCA362971339KIAA0319c.554G>C (p.Trp185Ser)
c.419G>C (p.Trp140Ser)
c.527G>C (p.Trp176Ser)
c.98G>C (p.Trp33Ser)
c.572G>C (p.Trp191Ser)
c.536G>C (p.Trp179Ser)
n.797G>C
6g.24596120C>TCA362971337KIAA0319c.554G>A (p.Trp185Ter)
c.419G>A (p.Trp140Ter)
c.527G>A (p.Trp176Ter)
c.98G>A (p.Trp33Ter)
c.572G>A (p.Trp191Ter)
c.536G>A (p.Trp179Ter)
n.797G>A
6g.24596121A>CCA362971340KIAA0319c.553T>G (p.Trp185Gly)
c.418T>G (p.Trp140Gly)
c.526T>G (p.Trp176Gly)
c.97T>G (p.Trp33Gly)
c.571T>G (p.Trp191Gly)
c.535T>G (p.Trp179Gly)
n.796T>G
 dbSNP
6g.24596121A>GCA362971342KIAA0319c.553T>C (p.Trp185Arg)
c.418T>C (p.Trp140Arg)
c.526T>C (p.Trp176Arg)
c.97T>C (p.Trp33Arg)
c.571T>C (p.Trp191Arg)
c.535T>C (p.Trp179Arg)
n.796T>C
6g.24596121A>TCA362971341KIAA0319c.553T>A (p.Trp185Arg)
c.418T>A (p.Trp140Arg)
c.526T>A (p.Trp176Arg)
c.97T>A (p.Trp33Arg)
c.571T>A (p.Trp191Arg)
c.535T>A (p.Trp179Arg)
n.796T>A
6g.24596122G>ACA448958866KIAA0319c.552C>T (p.Asp184=)
c.417C>T (p.Asp139=)
c.525C>T (p.Asp175=)
c.96C>T (p.Asp32=)
c.570C>T (p.Asp190=)
c.534C>T (p.Asp178=)
n.795C>T
6g.24596122G>CCA362971343KIAA0319c.552C>G (p.Asp184Glu)
c.417C>G (p.Asp139Glu)
c.525C>G (p.Asp175Glu)
c.96C>G (p.Asp32Glu)
c.570C>G (p.Asp190Glu)
c.534C>G (p.Asp178Glu)
n.795C>G
6g.24596122G>TCA362971344KIAA0319c.552C>A (p.Asp184Glu)
c.417C>A (p.Asp139Glu)
c.525C>A (p.Asp175Glu)
c.96C>A (p.Asp32Glu)
c.570C>A (p.Asp190Glu)
c.534C>A (p.Asp178Glu)
n.795C>A
6g.24596123T>ACA362971345KIAA0319c.551A>T (p.Asp184Val)
c.416A>T (p.Asp139Val)
c.524A>T (p.Asp175Val)
c.95A>T (p.Asp32Val)
c.569A>T (p.Asp190Val)
c.533A>T (p.Asp178Val)
n.794A>T
6g.24596123T>CCA362971346KIAA0319c.551A>G (p.Asp184Gly)
c.416A>G (p.Asp139Gly)
c.524A>G (p.Asp175Gly)
c.95A>G (p.Asp32Gly)
c.569A>G (p.Asp190Gly)
c.533A>G (p.Asp178Gly)
n.794A>G
6g.24596123T>GCA362971347KIAA0319c.551A>C (p.Asp184Ala)
c.416A>C (p.Asp139Ala)
c.524A>C (p.Asp175Ala)
c.95A>C (p.Asp32Ala)
c.569A>C (p.Asp190Ala)
c.533A>C (p.Asp178Ala)
n.794A>C
6g.24596124C>ACA362971348KIAA0319c.550G>T (p.Asp184Tyr)
c.415G>T (p.Asp139Tyr)
c.523G>T (p.Asp175Tyr)
c.94G>T (p.Asp32Tyr)
c.568G>T (p.Asp190Tyr)
c.532G>T (p.Asp178Tyr)
n.793G>T
6g.24596124C>GCA362971349KIAA0319c.550G>C (p.Asp184His)
c.415G>C (p.Asp139His)
c.523G>C (p.Asp175His)
c.94G>C (p.Asp32His)
c.568G>C (p.Asp190His)
c.532G>C (p.Asp178His)
n.793G>C
6g.24596124C>TCA362971350KIAA0319c.550G>A (p.Asp184Asn)
c.415G>A (p.Asp139Asn)
c.523G>A (p.Asp175Asn)
c.94G>A (p.Asp32Asn)
c.568G>A (p.Asp190Asn)
c.532G>A (p.Asp178Asn)
n.793G>A
6g.24596124_24596125delinsTTCA645549449KIAA0319c.549_550delinsAA (p.Asp184Asn)
c.414_415delinsAA (p.Asp139Asn)
c.522_523delinsAA (p.Asp175Asn)
c.93_94delinsAA (p.Asp32Asn)
c.567_568delinsAA (p.Asp190Asn)
c.531_532delinsAA (p.Asp178Asn)
n.792_793delinsAA
 COSMIC
6g.24596125C>ACA448958867KIAA0319c.549G>T (p.Thr183=)
c.414G>T (p.Thr138=)
c.522G>T (p.Thr174=)
c.93G>T (p.Thr31=)
c.567G>T (p.Thr189=)
c.531G>T (p.Thr177=)
n.792G>T
 gnomAD v4
6g.24596125C>GCA448958868KIAA0319c.549G>C (p.Thr183=)
c.414G>C (p.Thr138=)
c.522G>C (p.Thr174=)
c.93G>C (p.Thr31=)
c.567G>C (p.Thr189=)
c.531G>C (p.Thr177=)
n.792G>C
6g.24596125C>TCA448958869KIAA0319c.549G>A (p.Thr183=)
c.414G>A (p.Thr138=)
c.522G>A (p.Thr174=)
c.93G>A (p.Thr31=)
c.567G>A (p.Thr189=)
c.531G>A (p.Thr177=)
n.792G>A
 dbSNP gnomAD v4 COSMIC
6g.24596126G>ACA3657823KIAA0319c.548C>T (p.Thr183Met)
c.413C>T (p.Thr138Met)
c.521C>T (p.Thr174Met)
c.92C>T (p.Thr31Met)
c.566C>T (p.Thr189Met)
c.530C>T (p.Thr177Met)
n.791C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24596126G>CCA136131418KIAA0319c.548C>G (p.Thr183Arg)
c.413C>G (p.Thr138Arg)
c.521C>G (p.Thr174Arg)
c.92C>G (p.Thr31Arg)
c.566C>G (p.Thr189Arg)
c.530C>G (p.Thr177Arg)
n.791C>G
 dbSNP
6g.24596126G=CA1616548813KIAA0319c.548C= (p.Thr183=)
c.413C= (p.Thr138=)
c.521C= (p.Thr174=)
c.92C= (p.Thr31=)
c.566C= (p.Thr189=)
c.530C= (p.Thr177=)
n.791C=
6g.24596126G>TCA3657824KIAA0319c.548C>A (p.Thr183Lys)
c.413C>A (p.Thr138Lys)
c.521C>A (p.Thr174Lys)
c.92C>A (p.Thr31Lys)
c.566C>A (p.Thr189Lys)
c.530C>A (p.Thr177Lys)
n.791C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24596127T>ACA362971351KIAA0319c.547A>T (p.Thr183Ser)
c.412A>T (p.Thr138Ser)
c.520A>T (p.Thr174Ser)
c.91A>T (p.Thr31Ser)
c.565A>T (p.Thr189Ser)
c.529A>T (p.Thr177Ser)
n.790A>T
6g.24596127T>CCA362971352KIAA0319c.547A>G (p.Thr183Ala)
c.412A>G (p.Thr138Ala)
c.520A>G (p.Thr174Ala)
c.91A>G (p.Thr31Ala)
c.565A>G (p.Thr189Ala)
c.529A>G (p.Thr177Ala)
n.790A>G
6g.24596127T>GCA362971353KIAA0319c.547A>C (p.Thr183Pro)
c.412A>C (p.Thr138Pro)
c.520A>C (p.Thr174Pro)
c.91A>C (p.Thr31Pro)
c.565A>C (p.Thr189Pro)
c.529A>C (p.Thr177Pro)
n.790A>C
6g.24596128G>ACA448958870KIAA0319c.546C>T (p.Tyr182=)
c.411C>T (p.Tyr137=)
c.519C>T (p.Tyr173=)
c.90C>T (p.Tyr30=)
c.564C>T (p.Tyr188=)
c.528C>T (p.Tyr176=)
n.789C>T
 dbSNP gnomAD v3 gnomAD v4
6g.24596128G>CCA362971354KIAA0319c.546C>G (p.Tyr182Ter)
c.411C>G (p.Tyr137Ter)
c.519C>G (p.Tyr173Ter)
c.90C>G (p.Tyr30Ter)
c.564C>G (p.Tyr188Ter)
c.528C>G (p.Tyr176Ter)
n.789C>G
6g.24596128G=CA1616548814KIAA0319c.546C= (p.Tyr182=)
c.411C= (p.Tyr137=)
c.519C= (p.Tyr173=)
c.90C= (p.Tyr30=)
c.564C= (p.Tyr188=)
c.528C= (p.Tyr176=)
n.789C=
6g.24596128G>TCA362971355KIAA0319c.546C>A (p.Tyr182Ter)
c.411C>A (p.Tyr137Ter)
c.519C>A (p.Tyr173Ter)
c.90C>A (p.Tyr30Ter)
c.564C>A (p.Tyr188Ter)
c.528C>A (p.Tyr176Ter)
n.789C>A
 COSMIC
6g.24596129T>ACA362971356KIAA0319c.545A>T (p.Tyr182Phe)
c.410A>T (p.Tyr137Phe)
c.518A>T (p.Tyr173Phe)
c.89A>T (p.Tyr30Phe)
c.563A>T (p.Tyr188Phe)
c.527A>T (p.Tyr176Phe)
n.788A>T
6g.24596129T>CCA362971358KIAA0319c.545A>G (p.Tyr182Cys)
c.410A>G (p.Tyr137Cys)
c.518A>G (p.Tyr173Cys)
c.89A>G (p.Tyr30Cys)
c.563A>G (p.Tyr188Cys)
c.527A>G (p.Tyr176Cys)
n.788A>G
6g.24596129T>GCA362971357KIAA0319c.545A>C (p.Tyr182Ser)
c.410A>C (p.Tyr137Ser)
c.518A>C (p.Tyr173Ser)
c.89A>C (p.Tyr30Ser)
c.563A>C (p.Tyr188Ser)
c.527A>C (p.Tyr176Ser)
n.788A>C
6g.24596130A>CCA362971359KIAA0319c.544T>G (p.Tyr182Asp)
c.409T>G (p.Tyr137Asp)
c.517T>G (p.Tyr173Asp)
c.88T>G (p.Tyr30Asp)
c.562T>G (p.Tyr188Asp)
c.526T>G (p.Tyr176Asp)
n.787T>G
6g.24596130A>GCA362971360KIAA0319c.544T>C (p.Tyr182His)
c.409T>C (p.Tyr137His)
c.517T>C (p.Tyr173His)
c.88T>C (p.Tyr30His)
c.562T>C (p.Tyr188His)
c.526T>C (p.Tyr176His)
n.787T>C
6g.24596130A>TCA362971361KIAA0319c.544T>A (p.Tyr182Asn)
c.409T>A (p.Tyr137Asn)
c.517T>A (p.Tyr173Asn)
c.88T>A (p.Tyr30Asn)
c.562T>A (p.Tyr188Asn)
c.526T>A (p.Tyr176Asn)
n.787T>A
6g.24596131C>ACA362971362KIAA0319c.543G>T (p.Glu181Asp)
c.408G>T (p.Glu136Asp)
c.516G>T (p.Glu172Asp)
c.87G>T (p.Glu29Asp)
c.561G>T (p.Glu187Asp)
c.525G>T (p.Glu175Asp)
n.786G>T
6g.24596131C=CA1616548815KIAA0319c.543G= (p.Glu181=)
c.408G= (p.Glu136=)
c.516G= (p.Glu172=)
c.87G= (p.Glu29=)
c.561G= (p.Glu187=)
c.525G= (p.Glu175=)
n.786G=
6g.24596131C>GCA362971363KIAA0319c.543G>C (p.Glu181Asp)
c.408G>C (p.Glu136Asp)
c.516G>C (p.Glu172Asp)
c.87G>C (p.Glu29Asp)
c.561G>C (p.Glu187Asp)
c.525G>C (p.Glu175Asp)
n.786G>C
6g.24596131C>TCA448958871KIAA0319c.543G>A (p.Glu181=)
c.408G>A (p.Glu136=)
c.516G>A (p.Glu172=)
c.87G>A (p.Glu29=)
c.561G>A (p.Glu187=)
c.525G>A (p.Glu175=)
n.786G>A
 dbSNP gnomAD v3 gnomAD v4
6g.24596132T>ACA362971364KIAA0319c.542A>T (p.Glu181Val)
c.407A>T (p.Glu136Val)
c.515A>T (p.Glu172Val)
c.86A>T (p.Glu29Val)
c.560A>T (p.Glu187Val)
c.524A>T (p.Glu175Val)
n.785A>T
6g.24596132T>CCA362971365KIAA0319c.542A>G (p.Glu181Gly)
c.407A>G (p.Glu136Gly)
c.515A>G (p.Glu172Gly)
c.86A>G (p.Glu29Gly)
c.560A>G (p.Glu187Gly)
c.524A>G (p.Glu175Gly)
n.785A>G
 dbSNP gnomAD v2 gnomAD v4
6g.24596132T>GCA362971366KIAA0319c.542A>C (p.Glu181Ala)
c.407A>C (p.Glu136Ala)
c.515A>C (p.Glu172Ala)
c.86A>C (p.Glu29Ala)
c.560A>C (p.Glu187Ala)
c.524A>C (p.Glu175Ala)
n.785A>C
6g.24596132T=CA1616548816KIAA0319c.542A= (p.Glu181=)
c.407A= (p.Glu136=)
c.515A= (p.Glu172=)
c.86A= (p.Glu29=)
c.560A= (p.Glu187=)
c.524A= (p.Glu175=)
n.785A=
6g.24596133C>ACA362971367KIAA0319c.541G>T (p.Glu181Ter)
c.406G>T (p.Glu136Ter)
c.514G>T (p.Glu172Ter)
c.85G>T (p.Glu29Ter)
c.559G>T (p.Glu187Ter)
c.523G>T (p.Glu175Ter)
n.784G>T
6g.24596133C=CA1616548817KIAA0319c.541G= (p.Glu181=)
c.406G= (p.Glu136=)
c.514G= (p.Glu172=)
c.85G= (p.Glu29=)
c.559G= (p.Glu187=)
c.523G= (p.Glu175=)
n.784G=
6g.24596133C>GCA362971368KIAA0319c.541G>C (p.Glu181Gln)
c.406G>C (p.Glu136Gln)
c.514G>C (p.Glu172Gln)
c.85G>C (p.Glu29Gln)
c.559G>C (p.Glu187Gln)
c.523G>C (p.Glu175Gln)
n.784G>C
6g.24596133C>TCA3657825KIAA0319c.541G>A (p.Glu181Lys)
c.406G>A (p.Glu136Lys)
c.514G>A (p.Glu172Lys)
c.85G>A (p.Glu29Lys)
c.559G>A (p.Glu187Lys)
c.523G>A (p.Glu175Lys)
n.784G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596134G>ACA3657826KIAA0319c.540C>T (p.Ala180=)
c.405C>T (p.Ala135=)
c.513C>T (p.Ala171=)
c.84C>T (p.Ala28=)
c.558C>T (p.Ala186=)
c.522C>T (p.Ala174=)
n.783C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596134G>CCA448958872KIAA0319c.540C>G (p.Ala180=)
c.405C>G (p.Ala135=)
c.513C>G (p.Ala171=)
c.84C>G (p.Ala28=)
c.558C>G (p.Ala186=)
c.522C>G (p.Ala174=)
n.783C>G
6g.24596134G=CA1616548818KIAA0319c.540C= (p.Ala180=)
c.405C= (p.Ala135=)
c.513C= (p.Ala171=)
c.84C= (p.Ala28=)
c.558C= (p.Ala186=)
c.522C= (p.Ala174=)
n.783C=
6g.24596134G>TCA448958873KIAA0319c.540C>A (p.Ala180=)
c.405C>A (p.Ala135=)
c.513C>A (p.Ala171=)
c.84C>A (p.Ala28=)
c.558C>A (p.Ala186=)
c.522C>A (p.Ala174=)
n.783C>A
6g.24596135G>ACA362971369KIAA0319c.539C>T (p.Ala180Val)
c.404C>T (p.Ala135Val)
c.512C>T (p.Ala171Val)
c.83C>T (p.Ala28Val)
c.557C>T (p.Ala186Val)
c.521C>T (p.Ala174Val)
n.782C>T
6g.24596135G>CCA362971371KIAA0319c.539C>G (p.Ala180Gly)
c.404C>G (p.Ala135Gly)
c.512C>G (p.Ala171Gly)
c.83C>G (p.Ala28Gly)
c.557C>G (p.Ala186Gly)
c.521C>G (p.Ala174Gly)
n.782C>G
6g.24596135G>TCA362971370KIAA0319c.539C>A (p.Ala180Asp)
c.404C>A (p.Ala135Asp)
c.512C>A (p.Ala171Asp)
c.83C>A (p.Ala28Asp)
c.557C>A (p.Ala186Asp)
c.521C>A (p.Ala174Asp)
n.782C>A
6g.24596136C>ACA362971372KIAA0319c.538G>T (p.Ala180Ser)
c.403G>T (p.Ala135Ser)
c.511G>T (p.Ala171Ser)
c.82G>T (p.Ala28Ser)
c.556G>T (p.Ala186Ser)
c.520G>T (p.Ala174Ser)
n.781G>T
6g.24596136C>GCA362971373KIAA0319c.538G>C (p.Ala180Pro)
c.403G>C (p.Ala135Pro)
c.511G>C (p.Ala171Pro)
c.82G>C (p.Ala28Pro)
c.556G>C (p.Ala186Pro)
c.520G>C (p.Ala174Pro)
n.781G>C
6g.24596136C>TCA362971374KIAA0319c.538G>A (p.Ala180Thr)
c.403G>A (p.Ala135Thr)
c.511G>A (p.Ala171Thr)
c.82G>A (p.Ala28Thr)
c.556G>A (p.Ala186Thr)
c.520G>A (p.Ala174Thr)
n.781G>A
6g.24596137_24596151delCA2677536219KIAA0319c.524_538del (p.Glu175_Ser179del)
c.389_403del (p.Glu130_Ser134del)
c.497_511del (p.Glu166_Ser170del)
c.68_82del (p.Glu23_Ser27del)
c.542_556del (p.Glu181_Ser185del)
c.506_520del (p.Glu169_Ser173del)
n.767_781del
 gnomAD v4
6g.24596137A>CCA362971375KIAA0319c.537T>G (p.Ser179Arg)
c.402T>G (p.Ser134Arg)
c.510T>G (p.Ser170Arg)
c.81T>G (p.Ser27Arg)
c.555T>G (p.Ser185Arg)
c.519T>G (p.Ser173Arg)
n.780T>G
6g.24596137A>GCA448958874KIAA0319c.537T>C (p.Ser179=)
c.402T>C (p.Ser134=)
c.510T>C (p.Ser170=)
c.81T>C (p.Ser27=)
c.555T>C (p.Ser185=)
c.519T>C (p.Ser173=)
n.780T>C
6g.24596137A>TCA362971376KIAA0319c.537T>A (p.Ser179Arg)
c.402T>A (p.Ser134Arg)
c.510T>A (p.Ser170Arg)
c.81T>A (p.Ser27Arg)
c.555T>A (p.Ser185Arg)
c.519T>A (p.Ser173Arg)
n.780T>A
6g.24596138C>ACA362971379KIAA0319c.536G>T (p.Ser179Ile)
c.401G>T (p.Ser134Ile)
c.509G>T (p.Ser170Ile)
c.80G>T (p.Ser27Ile)
c.554G>T (p.Ser185Ile)
c.518G>T (p.Ser173Ile)
n.779G>T
6g.24596138C>GCA362971378KIAA0319c.536G>C (p.Ser179Thr)
c.401G>C (p.Ser134Thr)
c.509G>C (p.Ser170Thr)
c.80G>C (p.Ser27Thr)
c.554G>C (p.Ser185Thr)
c.518G>C (p.Ser173Thr)
n.779G>C
 gnomAD v4
6g.24596138C>TCA362971377KIAA0319c.536G>A (p.Ser179Asn)
c.401G>A (p.Ser134Asn)
c.509G>A (p.Ser170Asn)
c.80G>A (p.Ser27Asn)
c.554G>A (p.Ser185Asn)
c.518G>A (p.Ser173Asn)
n.779G>A
 gnomAD v4
6g.24596139T>ACA362971380KIAA0319c.535A>T (p.Ser179Cys)
c.400A>T (p.Ser134Cys)
c.508A>T (p.Ser170Cys)
c.79A>T (p.Ser27Cys)
c.553A>T (p.Ser185Cys)
c.517A>T (p.Ser173Cys)
n.778A>T
6g.24596139T>CCA362971381KIAA0319c.535A>G (p.Ser179Gly)
c.400A>G (p.Ser134Gly)
c.508A>G (p.Ser170Gly)
c.79A>G (p.Ser27Gly)
c.553A>G (p.Ser185Gly)
c.517A>G (p.Ser173Gly)
n.778A>G
6g.24596139T>GCA362971382KIAA0319c.535A>C (p.Ser179Arg)
c.400A>C (p.Ser134Arg)
c.508A>C (p.Ser170Arg)
c.79A>C (p.Ser27Arg)
c.553A>C (p.Ser185Arg)
c.517A>C (p.Ser173Arg)
n.778A>C
6g.24596140C>ACA448958877KIAA0319c.534G>T (p.Gly178=)
c.399G>T (p.Gly133=)
c.507G>T (p.Gly169=)
c.78G>T (p.Gly26=)
c.552G>T (p.Gly184=)
c.516G>T (p.Gly172=)
n.777G>T
6g.24596140C=CA1616548819KIAA0319c.534G= (p.Gly178=)
c.399G= (p.Gly133=)
c.507G= (p.Gly169=)
c.78G= (p.Gly26=)
c.552G= (p.Gly184=)
c.516G= (p.Gly172=)
n.777G=
6g.24596140C>GCA448958876KIAA0319c.534G>C (p.Gly178=)
c.399G>C (p.Gly133=)
c.507G>C (p.Gly169=)
c.78G>C (p.Gly26=)
c.552G>C (p.Gly184=)
c.516G>C (p.Gly172=)
n.777G>C
 dbSNP gnomAD v3 gnomAD v4
6g.24596140C>TCA448958875KIAA0319c.534G>A (p.Gly178=)
c.399G>A (p.Gly133=)
c.507G>A (p.Gly169=)
c.78G>A (p.Gly26=)
c.552G>A (p.Gly184=)
c.516G>A (p.Gly172=)
n.777G>A
6g.24596141C>ACA362971383KIAA0319c.533G>T (p.Gly178Val)
c.398G>T (p.Gly133Val)
c.506G>T (p.Gly169Val)
c.77G>T (p.Gly26Val)
c.551G>T (p.Gly184Val)
c.515G>T (p.Gly172Val)
n.776G>T
6g.24596141C=CA1616548820KIAA0319c.533G= (p.Gly178=)
c.398G= (p.Gly133=)
c.506G= (p.Gly169=)
c.77G= (p.Gly26=)
c.551G= (p.Gly184=)
c.515G= (p.Gly172=)
n.776G=
6g.24596141C>GCA362971384KIAA0319c.533G>C (p.Gly178Ala)
c.398G>C (p.Gly133Ala)
c.506G>C (p.Gly169Ala)
c.77G>C (p.Gly26Ala)
c.551G>C (p.Gly184Ala)
c.515G>C (p.Gly172Ala)
n.776G>C
6g.24596141C>TCA362971385KIAA0319c.533G>A (p.Gly178Glu)
c.398G>A (p.Gly133Glu)
c.506G>A (p.Gly169Glu)
c.77G>A (p.Gly26Glu)
c.551G>A (p.Gly184Glu)
c.515G>A (p.Gly172Glu)
n.776G>A
 dbSNP gnomAD v3 gnomAD v4
6g.24596142C>ACA362971386KIAA0319c.532G>T (p.Gly178Trp)
c.397G>T (p.Gly133Trp)
c.505G>T (p.Gly169Trp)
c.76G>T (p.Gly26Trp)
c.550G>T (p.Gly184Trp)
c.514G>T (p.Gly172Trp)
n.775G>T
6g.24596142C=CA1616548821KIAA0319c.532G= (p.Gly178=)
c.397G= (p.Gly133=)
c.505G= (p.Gly169=)
c.76G= (p.Gly26=)
c.550G= (p.Gly184=)
c.514G= (p.Gly172=)
n.775G=
6g.24596142C>GCA362971388KIAA0319c.532G>C (p.Gly178Arg)
c.397G>C (p.Gly133Arg)
c.505G>C (p.Gly169Arg)
c.76G>C (p.Gly26Arg)
c.550G>C (p.Gly184Arg)
c.514G>C (p.Gly172Arg)
n.775G>C
 dbSNP gnomAD v2
6g.24596142C>TCA362971387KIAA0319c.532G>A (p.Gly178Arg)
c.397G>A (p.Gly133Arg)
c.505G>A (p.Gly169Arg)
c.76G>A (p.Gly26Arg)
c.550G>A (p.Gly184Arg)
c.514G>A (p.Gly172Arg)
n.775G>A
6g.24596143T>ACA362971389KIAA0319c.531A>T (p.Arg177Ser)
c.396A>T (p.Arg132Ser)
c.504A>T (p.Arg168Ser)
c.75A>T (p.Arg25Ser)
c.549A>T (p.Arg183Ser)
c.513A>T (p.Arg171Ser)
n.774A>T
6g.24596143T>CCA448958878KIAA0319c.531A>G (p.Arg177=)
c.396A>G (p.Arg132=)
c.504A>G (p.Arg168=)
c.75A>G (p.Arg25=)
c.549A>G (p.Arg183=)
c.513A>G (p.Arg171=)
n.774A>G
6g.24596143T>GCA362971390KIAA0319c.531A>C (p.Arg177Ser)
c.396A>C (p.Arg132Ser)
c.504A>C (p.Arg168Ser)
c.75A>C (p.Arg25Ser)
c.549A>C (p.Arg183Ser)
c.513A>C (p.Arg171Ser)
n.774A>C
6g.24596144C>ACA362971391KIAA0319c.530G>T (p.Arg177Ile)
c.395G>T (p.Arg132Ile)
c.503G>T (p.Arg168Ile)
c.74G>T (p.Arg25Ile)
c.548G>T (p.Arg183Ile)
c.512G>T (p.Arg171Ile)
n.773G>T
6g.24596144C>GCA362971392KIAA0319c.530G>C (p.Arg177Thr)
c.395G>C (p.Arg132Thr)
c.503G>C (p.Arg168Thr)
c.74G>C (p.Arg25Thr)
c.548G>C (p.Arg183Thr)
c.512G>C (p.Arg171Thr)
n.773G>C
6g.24596144C>TCA362971393KIAA0319c.530G>A (p.Arg177Lys)
c.395G>A (p.Arg132Lys)
c.503G>A (p.Arg168Lys)
c.74G>A (p.Arg25Lys)
c.548G>A (p.Arg183Lys)
c.512G>A (p.Arg171Lys)
n.773G>A
6g.24596145T>ACA362971394KIAA0319c.529A>T (p.Arg177Ter)
c.394A>T (p.Arg132Ter)
c.502A>T (p.Arg168Ter)
c.73A>T (p.Arg25Ter)
c.547A>T (p.Arg183Ter)
c.511A>T (p.Arg171Ter)
n.772A>T
6g.24596145T>CCA362971395KIAA0319c.529A>G (p.Arg177Gly)
c.394A>G (p.Arg132Gly)
c.502A>G (p.Arg168Gly)
c.73A>G (p.Arg25Gly)
c.547A>G (p.Arg183Gly)
c.511A>G (p.Arg171Gly)
n.772A>G
6g.24596145T>GCA448958879KIAA0319c.529A>C (p.Arg177=)
c.394A>C (p.Arg132=)
c.502A>C (p.Arg168=)
c.73A>C (p.Arg25=)
c.547A>C (p.Arg183=)
c.511A>C (p.Arg171=)
n.772A>C
6g.24596146G>ACA448958880KIAA0319c.528C>T (p.Pro176=)
c.393C>T (p.Pro131=)
c.501C>T (p.Pro167=)
c.72C>T (p.Pro24=)
c.546C>T (p.Pro182=)
c.510C>T (p.Pro170=)
n.771C>T
6g.24596146G>CCA448958882KIAA0319c.528C>G (p.Pro176=)
c.393C>G (p.Pro131=)
c.501C>G (p.Pro167=)
c.72C>G (p.Pro24=)
c.546C>G (p.Pro182=)
c.510C>G (p.Pro170=)
n.771C>G
6g.24596146G>TCA448958881KIAA0319c.528C>A (p.Pro176=)
c.393C>A (p.Pro131=)
c.501C>A (p.Pro167=)
c.72C>A (p.Pro24=)
c.546C>A (p.Pro182=)
c.510C>A (p.Pro170=)
n.771C>A
6g.24596147G>ACA362971396KIAA0319c.527C>T (p.Pro176Leu)
c.392C>T (p.Pro131Leu)
c.500C>T (p.Pro167Leu)
c.71C>T (p.Pro24Leu)
c.545C>T (p.Pro182Leu)
c.509C>T (p.Pro170Leu)
n.770C>T
6g.24596147G>CCA362971397KIAA0319c.527C>G (p.Pro176Arg)
c.392C>G (p.Pro131Arg)
c.500C>G (p.Pro167Arg)
c.71C>G (p.Pro24Arg)
c.545C>G (p.Pro182Arg)
c.509C>G (p.Pro170Arg)
n.770C>G
6g.24596147G>TCA362971398KIAA0319c.527C>A (p.Pro176His)
c.392C>A (p.Pro131His)
c.500C>A (p.Pro167His)
c.71C>A (p.Pro24His)
c.545C>A (p.Pro182His)
c.509C>A (p.Pro170His)
n.770C>A
6g.24596148G>ACA362971399KIAA0319c.526C>T (p.Pro176Ser)
c.391C>T (p.Pro131Ser)
c.499C>T (p.Pro167Ser)
c.70C>T (p.Pro24Ser)
c.544C>T (p.Pro182Ser)
c.508C>T (p.Pro170Ser)
n.769C>T
6g.24596148G>CCA362971401KIAA0319c.526C>G (p.Pro176Ala)
c.391C>G (p.Pro131Ala)
c.499C>G (p.Pro167Ala)
c.70C>G (p.Pro24Ala)
c.544C>G (p.Pro182Ala)
c.508C>G (p.Pro170Ala)
n.769C>G
6g.24596148G>TCA362971400KIAA0319c.526C>A (p.Pro176Thr)
c.391C>A (p.Pro131Thr)
c.499C>A (p.Pro167Thr)
c.70C>A (p.Pro24Thr)
c.544C>A (p.Pro182Thr)
c.508C>A (p.Pro170Thr)
n.769C>A
6g.24596149C>ACA3657827KIAA0319c.525G>T (p.Glu175Asp)
c.390G>T (p.Glu130Asp)
c.498G>T (p.Glu166Asp)
c.69G>T (p.Glu23Asp)
c.543G>T (p.Glu181Asp)
c.507G>T (p.Glu169Asp)
n.768G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596149C=CA1616548822KIAA0319c.525G= (p.Glu175=)
c.390G= (p.Glu130=)
c.498G= (p.Glu166=)
c.69G= (p.Glu23=)
c.543G= (p.Glu181=)
c.507G= (p.Glu169=)
n.768G=
6g.24596149C>GCA362971402KIAA0319c.525G>C (p.Glu175Asp)
c.390G>C (p.Glu130Asp)
c.498G>C (p.Glu166Asp)
c.69G>C (p.Glu23Asp)
c.543G>C (p.Glu181Asp)
c.507G>C (p.Glu169Asp)
n.768G>C
6g.24596149C>TCA3657828KIAA0319c.525G>A (p.Glu175=)
c.390G>A (p.Glu130=)
c.498G>A (p.Glu166=)
c.69G>A (p.Glu23=)
c.543G>A (p.Glu181=)
c.507G>A (p.Glu169=)
n.768G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596150T>ACA362971403KIAA0319c.524A>T (p.Glu175Val)
c.389A>T (p.Glu130Val)
c.497A>T (p.Glu166Val)
c.68A>T (p.Glu23Val)
c.542A>T (p.Glu181Val)
c.506A>T (p.Glu169Val)
n.767A>T
6g.24596150T>CCA362971404KIAA0319c.524A>G (p.Glu175Gly)
c.389A>G (p.Glu130Gly)
c.497A>G (p.Glu166Gly)
c.68A>G (p.Glu23Gly)
c.542A>G (p.Glu181Gly)
c.506A>G (p.Glu169Gly)
n.767A>G
6g.24596150T>GCA362971405KIAA0319c.524A>C (p.Glu175Ala)
c.389A>C (p.Glu130Ala)
c.497A>C (p.Glu166Ala)
c.68A>C (p.Glu23Ala)
c.542A>C (p.Glu181Ala)
c.506A>C (p.Glu169Ala)
n.767A>C
6g.24596151C>ACA362971406KIAA0319c.523G>T (p.Glu175Ter)
c.388G>T (p.Glu130Ter)
c.496G>T (p.Glu166Ter)
c.67G>T (p.Glu23Ter)
c.541G>T (p.Glu181Ter)
c.505G>T (p.Glu169Ter)
n.766G>T
 dbSNP
6g.24596151C=CA1616548823KIAA0319c.523G= (p.Glu175=)
c.388G= (p.Glu130=)
c.496G= (p.Glu166=)
c.67G= (p.Glu23=)
c.541G= (p.Glu181=)
c.505G= (p.Glu169=)
n.766G=
6g.24596151C>GCA362971407KIAA0319c.523G>C (p.Glu175Gln)
c.388G>C (p.Glu130Gln)
c.496G>C (p.Glu166Gln)
c.67G>C (p.Glu23Gln)
c.541G>C (p.Glu181Gln)
c.505G>C (p.Glu169Gln)
n.766G>C
6g.24596151C>TCA136131439KIAA0319c.523G>A (p.Glu175Lys)
c.388G>A (p.Glu130Lys)
c.496G>A (p.Glu166Lys)
c.67G>A (p.Glu23Lys)
c.541G>A (p.Glu181Lys)
c.505G>A (p.Glu169Lys)
n.766G>A
 dbSNP gnomAD v2 gnomAD v4
6g.24596152C>ACA362971408KIAA0319c.522G>T (p.Gln174His)
c.387G>T (p.Gln129His)
c.495G>T (p.Gln165His)
c.66G>T (p.Gln22His)
c.540G>T (p.Gln180His)
c.504G>T (p.Gln168His)
n.765G>T
6g.24596152C>GCA362971409KIAA0319c.522G>C (p.Gln174His)
c.387G>C (p.Gln129His)
c.495G>C (p.Gln165His)
c.66G>C (p.Gln22His)
c.540G>C (p.Gln180His)
c.504G>C (p.Gln168His)
n.765G>C
6g.24596152C>TCA448958883KIAA0319c.522G>A (p.Gln174=)
c.387G>A (p.Gln129=)
c.495G>A (p.Gln165=)
c.66G>A (p.Gln22=)
c.540G>A (p.Gln180=)
c.504G>A (p.Gln168=)
n.765G>A

Number of alleles fetched