Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.143728475A=CA1825940792FAM83Hc.986T= (p.Leu329=)
c.1589T= (p.Leu530=)
c.166T=
c.1043T= (p.Leu348=)
c.1004T= (p.Leu335=)
c.1307T= (p.Leu436=)
c.1154T= (p.Leu385=)
8g.143728475A>CCA372468936FAM83Hc.986T>G (p.Leu329Arg)
c.1589T>G (p.Leu530Arg)
c.166T>G
c.1043T>G (p.Leu348Arg)
c.1004T>G (p.Leu335Arg)
c.1307T>G (p.Leu436Arg)
c.1154T>G (p.Leu385Arg)
8g.143728475A>GCA372468937FAM83Hc.986T>C (p.Leu329Pro)
c.1589T>C (p.Leu530Pro)
c.166T>C
c.1043T>C (p.Leu348Pro)
c.1004T>C (p.Leu335Pro)
c.1307T>C (p.Leu436Pro)
c.1154T>C (p.Leu385Pro)
dbSNP gnomAD v2 gnomAD v4
8g.143728475A>TCA372468938FAM83Hc.986T>A (p.Leu329Gln)
c.1589T>A (p.Leu530Gln)
c.166T>A
c.1043T>A (p.Leu348Gln)
c.1004T>A (p.Leu335Gln)
c.1307T>A (p.Leu436Gln)
c.1154T>A (p.Leu385Gln)
8g.143728476G>ACA463519730FAM83Hc.985C>T (p.Leu329=)
c.1588C>T (p.Leu530=)
c.165C>T
c.1042C>T (p.Leu348=)
c.1003C>T (p.Leu335=)
c.1306C>T (p.Leu436=)
c.1153C>T (p.Leu385=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728476G>CCA372468939FAM83Hc.985C>G (p.Leu329Val)
c.1588C>G (p.Leu530Val)
c.165C>G
c.1042C>G (p.Leu348Val)
c.1003C>G (p.Leu335Val)
c.1306C>G (p.Leu436Val)
c.1153C>G (p.Leu385Val)
8g.143728476G=CA1825940793FAM83Hc.985C= (p.Leu329=)
c.1588C= (p.Leu530=)
c.165C=
c.1042C= (p.Leu348=)
c.1003C= (p.Leu335=)
c.1306C= (p.Leu436=)
c.1153C= (p.Leu385=)
8g.143728476G>TCA372468940FAM83Hc.985C>A (p.Leu329Met)
c.1588C>A (p.Leu530Met)
c.165C>A
c.1042C>A (p.Leu348Met)
c.1003C>A (p.Leu335Met)
c.1306C>A (p.Leu436Met)
c.1153C>A (p.Leu385Met)
gnomAD v4
8g.143728477G>ACA463519731FAM83Hc.984C>T (p.Leu328=)
c.1587C>T (p.Leu529=)
c.164C>T
c.1041C>T (p.Leu347=)
c.1002C>T (p.Leu334=)
c.1305C>T (p.Leu435=)
c.1152C>T (p.Leu384=)
gnomAD v4
8g.143728477G>CCA463519732FAM83Hc.984C>G (p.Leu328=)
c.1587C>G (p.Leu529=)
c.164C>G
c.1041C>G (p.Leu347=)
c.1002C>G (p.Leu334=)
c.1305C>G (p.Leu435=)
c.1152C>G (p.Leu384=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728477G=CA1825940794FAM83Hc.984C= (p.Leu328=)
c.1587C= (p.Leu529=)
c.164C=
c.1041C= (p.Leu347=)
c.1002C= (p.Leu334=)
c.1305C= (p.Leu435=)
c.1152C= (p.Leu384=)
8g.143728477G>TCA463519735FAM83Hc.984C>A (p.Leu328=)
c.1587C>A (p.Leu529=)
c.164C>A
c.1041C>A (p.Leu347=)
c.1002C>A (p.Leu334=)
c.1305C>A (p.Leu435=)
c.1152C>A (p.Leu384=)
gnomAD v4
8g.143728478A>CCA372468941FAM83Hc.983T>G (p.Leu328Arg)
c.1586T>G (p.Leu529Arg)
c.163T>G
c.1040T>G (p.Leu347Arg)
c.1001T>G (p.Leu334Arg)
c.1304T>G (p.Leu435Arg)
c.1151T>G (p.Leu384Arg)
8g.143728478A>GCA372468942FAM83Hc.983T>C (p.Leu328Pro)
c.1586T>C (p.Leu529Pro)
c.163T>C
c.1040T>C (p.Leu347Pro)
c.1001T>C (p.Leu334Pro)
c.1304T>C (p.Leu435Pro)
c.1151T>C (p.Leu384Pro)
gnomAD v4
8g.143728478A>TCA372468943FAM83Hc.983T>A (p.Leu328His)
c.1586T>A (p.Leu529His)
c.163T>A
c.1040T>A (p.Leu347His)
c.1001T>A (p.Leu334His)
c.1304T>A (p.Leu435His)
c.1151T>A (p.Leu384His)
gnomAD v4
8g.143728479G>ACA372468944FAM83Hc.982C>T (p.Leu328Phe)
c.1585C>T (p.Leu529Phe)
c.162C>T
c.1039C>T (p.Leu347Phe)
c.1000C>T (p.Leu334Phe)
c.1303C>T (p.Leu435Phe)
c.1150C>T (p.Leu384Phe)
dbSNP gnomAD v3 gnomAD v4
8g.143728479G>CCA372468945FAM83Hc.982C>G (p.Leu328Val)
c.1585C>G (p.Leu529Val)
c.162C>G
c.1039C>G (p.Leu347Val)
c.1000C>G (p.Leu334Val)
c.1303C>G (p.Leu435Val)
c.1150C>G (p.Leu384Val)
8g.143728479G=CA1825940795FAM83Hc.982C= (p.Leu328=)
c.1585C= (p.Leu529=)
c.162C=
c.1039C= (p.Leu347=)
c.1000C= (p.Leu334=)
c.1303C= (p.Leu435=)
c.1150C= (p.Leu384=)
8g.143728479G>TCA372468946FAM83Hc.982C>A (p.Leu328Ile)
c.1585C>A (p.Leu529Ile)
c.162C>A
c.1039C>A (p.Leu347Ile)
c.1000C>A (p.Leu334Ile)
c.1303C>A (p.Leu435Ile)
c.1150C>A (p.Leu384Ile)
gnomAD v4 COSMIC
8g.143728480G>ACA463519743FAM83Hc.981C>T (p.His327=)
c.1584C>T (p.His528=)
c.161C>T
c.1038C>T (p.His346=)
c.999C>T (p.His333=)
c.1302C>T (p.His434=)
c.1149C>T (p.His383=)
gnomAD v4
8g.143728480G>CCA372468947FAM83Hc.981C>G (p.His327Gln)
c.1584C>G (p.His528Gln)
c.161C>G
c.1038C>G (p.His346Gln)
c.999C>G (p.His333Gln)
c.1302C>G (p.His434Gln)
c.1149C>G (p.His383Gln)
8g.143728480G>TCA372468948FAM83Hc.981C>A (p.His327Gln)
c.1584C>A (p.His528Gln)
c.161C>A
c.1038C>A (p.His346Gln)
c.999C>A (p.His333Gln)
c.1302C>A (p.His434Gln)
c.1149C>A (p.His383Gln)
8g.143728481T>ACA372468949FAM83Hc.980A>T (p.His327Leu)
c.1583A>T (p.His528Leu)
c.160A>T
c.1037A>T (p.His346Leu)
c.998A>T (p.His333Leu)
c.1301A>T (p.His434Leu)
c.1148A>T (p.His383Leu)
gnomAD v4
8g.143728481T>CCA372468950FAM83Hc.980A>G (p.His327Arg)
c.1583A>G (p.His528Arg)
c.160A>G
c.1037A>G (p.His346Arg)
c.998A>G (p.His333Arg)
c.1301A>G (p.His434Arg)
c.1148A>G (p.His383Arg)
dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.143728481T>GCA372468951FAM83Hc.980A>C (p.His327Pro)
c.1583A>C (p.His528Pro)
c.160A>C
c.1037A>C (p.His346Pro)
c.998A>C (p.His333Pro)
c.1301A>C (p.His434Pro)
c.1148A>C (p.His383Pro)
gnomAD v4
8g.143728481T=CA1825940796FAM83Hc.980A= (p.His327=)
c.1583A= (p.His528=)
c.160A=
c.1037A= (p.His346=)
c.998A= (p.His333=)
c.1301A= (p.His434=)
c.1148A= (p.His383=)
8g.143728482G>ACA372468952FAM83Hc.979C>T (p.His327Tyr)
c.1582C>T (p.His528Tyr)
c.159C>T
c.1036C>T (p.His346Tyr)
c.997C>T (p.His333Tyr)
c.1300C>T (p.His434Tyr)
c.1147C>T (p.His383Tyr)
gnomAD v4
8g.143728482G>CCA372468953FAM83Hc.979C>G (p.His327Asp)
c.1582C>G (p.His528Asp)
c.159C>G
c.1036C>G (p.His346Asp)
c.997C>G (p.His333Asp)
c.1300C>G (p.His434Asp)
c.1147C>G (p.His383Asp)
8g.143728482G>TCA372468954FAM83Hc.979C>A (p.His327Asn)
c.1582C>A (p.His528Asn)
c.159C>A
c.1036C>A (p.His346Asn)
c.997C>A (p.His333Asn)
c.1300C>A (p.His434Asn)
c.1147C>A (p.His383Asn)
gnomAD v4
8g.143728483C>ACA463519758FAM83Hc.978G>T (p.Ala326=)
c.1581G>T (p.Ala527=)
c.158G>T
c.1035G>T (p.Ala345=)
c.996G>T (p.Ala332=)
c.1299G>T (p.Ala433=)
c.1146G>T (p.Ala382=)
8g.143728483C=CA1825940797FAM83Hc.978G= (p.Ala326=)
c.1581G= (p.Ala527=)
c.158G=
c.1035G= (p.Ala345=)
c.996G= (p.Ala332=)
c.1299G= (p.Ala433=)
c.1146G= (p.Ala382=)
8g.143728483C>GCA4917539FAM83Hc.978G>C (p.Ala326=)
c.1581G>C (p.Ala527=)
c.158G>C
c.1035G>C (p.Ala345=)
c.996G>C (p.Ala332=)
c.1299G>C (p.Ala433=)
c.1146G>C (p.Ala382=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728483C>TCA463519760FAM83Hc.978G>A (p.Ala326=)
c.1581G>A (p.Ala527=)
c.158G>A
c.1035G>A (p.Ala345=)
c.996G>A (p.Ala332=)
c.1299G>A (p.Ala433=)
c.1146G>A (p.Ala382=)
dbSNP gnomAD v2 gnomAD v4
8g.143728484G>ACA372468955FAM83Hc.977C>T (p.Ala326Val)
c.1580C>T (p.Ala527Val)
c.157C>T
c.1034C>T (p.Ala345Val)
c.995C>T (p.Ala332Val)
c.1298C>T (p.Ala433Val)
c.1145C>T (p.Ala382Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728484G>CCA372468956FAM83Hc.977C>G (p.Ala326Gly)
c.1580C>G (p.Ala527Gly)
c.157C>G
c.1034C>G (p.Ala345Gly)
c.995C>G (p.Ala332Gly)
c.1298C>G (p.Ala433Gly)
c.1145C>G (p.Ala382Gly)
gnomAD v4
8g.143728484G=CA1825940798FAM83Hc.977C= (p.Ala326=)
c.1580C= (p.Ala527=)
c.157C=
c.1034C= (p.Ala345=)
c.995C= (p.Ala332=)
c.1298C= (p.Ala433=)
c.1145C= (p.Ala382=)
8g.143728484G>TCA372468957FAM83Hc.977C>A (p.Ala326Glu)
c.1580C>A (p.Ala527Glu)
c.157C>A
c.1034C>A (p.Ala345Glu)
c.995C>A (p.Ala332Glu)
c.1298C>A (p.Ala433Glu)
c.1145C>A (p.Ala382Glu)
gnomAD v4
8g.143728485C>ACA372468958FAM83Hc.976G>T (p.Ala326Ser)
c.1579G>T (p.Ala527Ser)
c.156G>T
c.1033G>T (p.Ala345Ser)
c.994G>T (p.Ala332Ser)
c.1297G>T (p.Ala433Ser)
c.1144G>T (p.Ala382Ser)
gnomAD v4
8g.143728485C=CA1825940799FAM83Hc.976G= (p.Ala326=)
c.1579G= (p.Ala527=)
c.156G=
c.1033G= (p.Ala345=)
c.994G= (p.Ala332=)
c.1297G= (p.Ala433=)
c.1144G= (p.Ala382=)
8g.143728485C>GCA372468959FAM83Hc.976G>C (p.Ala326Pro)
c.1579G>C (p.Ala527Pro)
c.156G>C
c.1033G>C (p.Ala345Pro)
c.994G>C (p.Ala332Pro)
c.1297G>C (p.Ala433Pro)
c.1144G>C (p.Ala382Pro)
8g.143728485C>TCA372468960FAM83Hc.976G>A (p.Ala326Thr)
c.1579G>A (p.Ala527Thr)
c.156G>A
c.1033G>A (p.Ala345Thr)
c.994G>A (p.Ala332Thr)
c.1297G>A (p.Ala433Thr)
c.1144G>A (p.Ala382Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728486T>ACA463519764FAM83Hc.975A>T (p.Arg325=)
c.1578A>T (p.Arg526=)
c.155A>T
c.1032A>T (p.Arg344=)
c.993A>T (p.Arg331=)
c.1296A>T (p.Arg432=)
c.1143A>T (p.Arg381=)
8g.143728486T>CCA463519766FAM83Hc.975A>G (p.Arg325=)
c.1578A>G (p.Arg526=)
c.155A>G
c.1032A>G (p.Arg344=)
c.993A>G (p.Arg331=)
c.1296A>G (p.Arg432=)
c.1143A>G (p.Arg381=)
gnomAD v4
8g.143728486T>GCA463519765FAM83Hc.975A>C (p.Arg325=)
c.1578A>C (p.Arg526=)
c.155A>C
c.1032A>C (p.Arg344=)
c.993A>C (p.Arg331=)
c.1296A>C (p.Arg432=)
c.1143A>C (p.Arg381=)
8g.143728487C>ACA372468961FAM83Hc.974G>T (p.Arg325Leu)
c.1577G>T (p.Arg526Leu)
c.154G>T
c.1031G>T (p.Arg344Leu)
c.992G>T (p.Arg331Leu)
c.1295G>T (p.Arg432Leu)
c.1142G>T (p.Arg381Leu)
gnomAD v4
8g.143728487C>GCA372468963FAM83Hc.974G>C (p.Arg325Pro)
c.1577G>C (p.Arg526Pro)
c.154G>C
c.1031G>C (p.Arg344Pro)
c.992G>C (p.Arg331Pro)
c.1295G>C (p.Arg432Pro)
c.1142G>C (p.Arg381Pro)
gnomAD v4
8g.143728487C>TCA372468962FAM83Hc.974G>A (p.Arg325Gln)
c.1577G>A (p.Arg526Gln)
c.154G>A
c.1031G>A (p.Arg344Gln)
c.992G>A (p.Arg331Gln)
c.1295G>A (p.Arg432Gln)
c.1142G>A (p.Arg381Gln)
gnomAD v4 COSMIC
8g.143728488G>ACA114491FAM83Hc.973C>T (p.Arg325Ter)
c.1576C>T (p.Arg526Ter)
c.153C>T
c.1030C>T (p.Arg344Ter)
c.991C>T (p.Arg331Ter)
c.1294C>T (p.Arg432Ter)
c.1141C>T (p.Arg381Ter)
ClinVar dbSNP gnomAD v4
8g.143728488G>CCA372468964FAM83Hc.973C>G (p.Arg325Gly)
c.1576C>G (p.Arg526Gly)
c.153C>G
c.1030C>G (p.Arg344Gly)
c.991C>G (p.Arg331Gly)
c.1294C>G (p.Arg432Gly)
c.1141C>G (p.Arg381Gly)
8g.143728488G=CA1825940800FAM83Hc.973C= (p.Arg325=)
c.1576C= (p.Arg526=)
c.153C=
c.1030C= (p.Arg344=)
c.991C= (p.Arg331=)
c.1294C= (p.Arg432=)
c.1141C= (p.Arg381=)
8g.143728488G>TCA463519771FAM83Hc.973C>A (p.Arg325=)
c.1576C>A (p.Arg526=)
c.153C>A
c.1030C>A (p.Arg344=)
c.991C>A (p.Arg331=)
c.1294C>A (p.Arg432=)
c.1141C>A (p.Arg381=)
gnomAD v4
8g.143728489T>ACA372468965FAM83Hc.972A>T (p.Lys324Asn)
c.1575A>T (p.Lys525Asn)
c.152A>T
c.1029A>T (p.Lys343Asn)
c.990A>T (p.Lys330Asn)
c.1293A>T (p.Lys431Asn)
c.1140A>T (p.Lys380Asn)
8g.143728489T>CCA463519774FAM83Hc.972A>G (p.Lys324=)
c.1575A>G (p.Lys525=)
c.152A>G
c.1029A>G (p.Lys343=)
c.990A>G (p.Lys330=)
c.1293A>G (p.Lys431=)
c.1140A>G (p.Lys380=)
8g.143728489T>GCA372468966FAM83Hc.972A>C (p.Lys324Asn)
c.1575A>C (p.Lys525Asn)
c.152A>C
c.1029A>C (p.Lys343Asn)
c.990A>C (p.Lys330Asn)
c.1293A>C (p.Lys431Asn)
c.1140A>C (p.Lys380Asn)
8g.143728490T>ACA372468967FAM83Hc.971A>T (p.Lys324Ile)
c.1574A>T (p.Lys525Ile)
c.151A>T
c.1028A>T (p.Lys343Ile)
c.989A>T (p.Lys330Ile)
c.1292A>T (p.Lys431Ile)
c.1139A>T (p.Lys380Ile)
8g.143728490T>CCA372468968FAM83Hc.971A>G (p.Lys324Arg)
c.1574A>G (p.Lys525Arg)
c.151A>G
c.1028A>G (p.Lys343Arg)
c.989A>G (p.Lys330Arg)
c.1292A>G (p.Lys431Arg)
c.1139A>G (p.Lys380Arg)
dbSNP gnomAD v3 gnomAD v4
8g.143728490T>GCA372468969FAM83Hc.971A>C (p.Lys324Thr)
c.1574A>C (p.Lys525Thr)
c.151A>C
c.1028A>C (p.Lys343Thr)
c.989A>C (p.Lys330Thr)
c.1292A>C (p.Lys431Thr)
c.1139A>C (p.Lys380Thr)
8g.143728490T=CA1825940801FAM83Hc.971A= (p.Lys324=)
c.1574A= (p.Lys525=)
c.151A=
c.1028A= (p.Lys343=)
c.989A= (p.Lys330=)
c.1292A= (p.Lys431=)
c.1139A= (p.Lys380=)
8g.143728491T>ACA372468970FAM83Hc.970A>T (p.Lys324Ter)
c.1573A>T (p.Lys525Ter)
c.150A>T
c.1027A>T (p.Lys343Ter)
c.988A>T (p.Lys330Ter)
c.1291A>T (p.Lys431Ter)
c.1138A>T (p.Lys380Ter)
8g.143728491T>CCA372468971FAM83Hc.970A>G (p.Lys324Glu)
c.1573A>G (p.Lys525Glu)
c.150A>G
c.1027A>G (p.Lys343Glu)
c.988A>G (p.Lys330Glu)
c.1291A>G (p.Lys431Glu)
c.1138A>G (p.Lys380Glu)
8g.143728491T>GCA372468972FAM83Hc.970A>C (p.Lys324Gln)
c.1573A>C (p.Lys525Gln)
c.150A>C
c.1027A>C (p.Lys343Gln)
c.988A>C (p.Lys330Gln)
c.1291A>C (p.Lys431Gln)
c.1138A>C (p.Lys380Gln)
8g.143728492A>CCA463519781FAM83Hc.969T>G (p.Pro323=)
c.1572T>G (p.Pro524=)
c.149T>G
c.1026T>G (p.Pro342=)
c.987T>G (p.Pro329=)
c.1290T>G (p.Pro430=)
c.1137T>G (p.Pro379=)
8g.143728492A>GCA463519780FAM83Hc.969T>C (p.Pro323=)
c.1572T>C (p.Pro524=)
c.149T>C
c.1026T>C (p.Pro342=)
c.987T>C (p.Pro329=)
c.1290T>C (p.Pro430=)
c.1137T>C (p.Pro379=)
gnomAD v4
8g.143728492A>TCA463519778FAM83Hc.969T>A (p.Pro323=)
c.1572T>A (p.Pro524=)
c.149T>A
c.1026T>A (p.Pro342=)
c.987T>A (p.Pro329=)
c.1290T>A (p.Pro430=)
c.1137T>A (p.Pro379=)
gnomAD v4
8g.143728493G>ACA372468973FAM83Hc.968C>T (p.Pro323Leu)
c.1571C>T (p.Pro524Leu)
c.148C>T
c.1025C>T (p.Pro342Leu)
c.986C>T (p.Pro329Leu)
c.1289C>T (p.Pro430Leu)
c.1136C>T (p.Pro379Leu)
8g.143728493G>CCA372468974FAM83Hc.968C>G (p.Pro323Arg)
c.1571C>G (p.Pro524Arg)
c.148C>G
c.1025C>G (p.Pro342Arg)
c.986C>G (p.Pro329Arg)
c.1289C>G (p.Pro430Arg)
c.1136C>G (p.Pro379Arg)
dbSNP
8g.143728493G=CA1825940802FAM83Hc.968C= (p.Pro323=)
c.1571C= (p.Pro524=)
c.148C=
c.1025C= (p.Pro342=)
c.986C= (p.Pro329=)
c.1289C= (p.Pro430=)
c.1136C= (p.Pro379=)
8g.143728493G>TCA372468975FAM83Hc.968C>A (p.Pro323His)
c.1571C>A (p.Pro524His)
c.148C>A
c.1025C>A (p.Pro342His)
c.986C>A (p.Pro329His)
c.1289C>A (p.Pro430His)
c.1136C>A (p.Pro379His)
gnomAD v4
8g.143728494G>ACA4917540FAM83Hc.967C>T (p.Pro323Ser)
c.1570C>T (p.Pro524Ser)
c.147C>T
c.1024C>T (p.Pro342Ser)
c.985C>T (p.Pro329Ser)
c.1288C>T (p.Pro430Ser)
c.1135C>T (p.Pro379Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728494G>CCA372468976FAM83Hc.967C>G (p.Pro323Ala)
c.1570C>G (p.Pro524Ala)
c.147C>G
c.1024C>G (p.Pro342Ala)
c.985C>G (p.Pro329Ala)
c.1288C>G (p.Pro430Ala)
c.1135C>G (p.Pro379Ala)
8g.143728494G=CA1825940803FAM83Hc.967C= (p.Pro323=)
c.1570C= (p.Pro524=)
c.147C=
c.1024C= (p.Pro342=)
c.985C= (p.Pro329=)
c.1288C= (p.Pro430=)
c.1135C= (p.Pro379=)
8g.143728494G>TCA372468977FAM83Hc.967C>A (p.Pro323Thr)
c.1570C>A (p.Pro524Thr)
c.147C>A
c.1024C>A (p.Pro342Thr)
c.985C>A (p.Pro329Thr)
c.1288C>A (p.Pro430Thr)
c.1135C>A (p.Pro379Thr)
8g.143728495G>ACA463519793FAM83Hc.966C>T (p.Phe322=)
c.1569C>T (p.Phe523=)
c.146C>T
c.1023C>T (p.Phe341=)
c.984C>T (p.Phe328=)
c.1287C>T (p.Phe429=)
c.1134C>T (p.Phe378=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728495G>CCA4917541FAM83Hc.966C>G (p.Phe322Leu)
c.1569C>G (p.Phe523Leu)
c.146C>G
c.1023C>G (p.Phe341Leu)
c.984C>G (p.Phe328Leu)
c.1287C>G (p.Phe429Leu)
c.1134C>G (p.Phe378Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728495G=CA1825940804FAM83Hc.966C= (p.Phe322=)
c.1569C= (p.Phe523=)
c.146C=
c.1023C= (p.Phe341=)
c.984C= (p.Phe328=)
c.1287C= (p.Phe429=)
c.1134C= (p.Phe378=)
8g.143728495G>TCA372468978FAM83Hc.966C>A (p.Phe322Leu)
c.1569C>A (p.Phe523Leu)
c.146C>A
c.1023C>A (p.Phe341Leu)
c.984C>A (p.Phe328Leu)
c.1287C>A (p.Phe429Leu)
c.1134C>A (p.Phe378Leu)
gnomAD v4
8g.143728496A>CCA372468979FAM83Hc.965T>G (p.Phe322Cys)
c.1568T>G (p.Phe523Cys)
c.145T>G
c.1022T>G (p.Phe341Cys)
c.983T>G (p.Phe328Cys)
c.1286T>G (p.Phe429Cys)
c.1133T>G (p.Phe378Cys)
8g.143728496A>GCA372468980FAM83Hc.965T>C (p.Phe322Ser)
c.1568T>C (p.Phe523Ser)
c.145T>C
c.1022T>C (p.Phe341Ser)
c.983T>C (p.Phe328Ser)
c.1286T>C (p.Phe429Ser)
c.1133T>C (p.Phe378Ser)
gnomAD v4
8g.143728496A>TCA372468981FAM83Hc.965T>A (p.Phe322Tyr)
c.1568T>A (p.Phe523Tyr)
c.145T>A
c.1022T>A (p.Phe341Tyr)
c.983T>A (p.Phe328Tyr)
c.1286T>A (p.Phe429Tyr)
c.1133T>A (p.Phe378Tyr)
8g.143728497A>CCA372468982FAM83Hc.964T>G (p.Phe322Val)
c.1567T>G (p.Phe523Val)
c.144T>G
c.1021T>G (p.Phe341Val)
c.982T>G (p.Phe328Val)
c.1285T>G (p.Phe429Val)
c.1132T>G (p.Phe378Val)
8g.143728497A>GCA372468983FAM83Hc.964T>C (p.Phe322Leu)
c.1567T>C (p.Phe523Leu)
c.144T>C
c.1021T>C (p.Phe341Leu)
c.982T>C (p.Phe328Leu)
c.1285T>C (p.Phe429Leu)
c.1132T>C (p.Phe378Leu)
gnomAD v4
8g.143728497A>TCA372468984FAM83Hc.964T>A (p.Phe322Ile)
c.1567T>A (p.Phe523Ile)
c.144T>A
c.1021T>A (p.Phe341Ile)
c.982T>A (p.Phe328Ile)
c.1285T>A (p.Phe429Ile)
c.1132T>A (p.Phe378Ile)
8g.143728499_143728501delCA2579273275FAM83Hc.962_964del (p.Ser321del)
c.1565_1567del (p.Ser522del)
c.142_144del
c.1019_1021del (p.Ser340del)
c.980_982del (p.Ser327del)
c.1283_1285del (p.Ser428del)
c.1130_1132del (p.Ser377del)
8g.143728498G>ACA4917542FAM83Hc.963C>T (p.Ser321=)
c.1566C>T (p.Ser522=)
c.143C>T
c.1020C>T (p.Ser340=)
c.981C>T (p.Ser327=)
c.1284C>T (p.Ser428=)
c.1131C>T (p.Ser377=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728498G>CCA463519801FAM83Hc.963C>G (p.Ser321=)
c.1566C>G (p.Ser522=)
c.143C>G
c.1020C>G (p.Ser340=)
c.981C>G (p.Ser327=)
c.1284C>G (p.Ser428=)
c.1131C>G (p.Ser377=)
8g.143728498G=CA1825940805FAM83Hc.963C= (p.Ser321=)
c.1566C= (p.Ser522=)
c.143C=
c.1020C= (p.Ser340=)
c.981C= (p.Ser327=)
c.1284C= (p.Ser428=)
c.1131C= (p.Ser377=)
8g.143728498G>TCA463519802FAM83Hc.963C>A (p.Ser321=)
c.1566C>A (p.Ser522=)
c.143C>A
c.1020C>A (p.Ser340=)
c.981C>A (p.Ser327=)
c.1284C>A (p.Ser428=)
c.1131C>A (p.Ser377=)
gnomAD v4
8g.143728499G>ACA372468985FAM83Hc.962C>T (p.Ser321Phe)
c.1565C>T (p.Ser522Phe)
c.142C>T
c.1019C>T (p.Ser340Phe)
c.980C>T (p.Ser327Phe)
c.1283C>T (p.Ser428Phe)
c.1130C>T (p.Ser377Phe)
gnomAD v4
8g.143728499G>CCA372468986FAM83Hc.962C>G (p.Ser321Cys)
c.1565C>G (p.Ser522Cys)
c.142C>G
c.1019C>G (p.Ser340Cys)
c.980C>G (p.Ser327Cys)
c.1283C>G (p.Ser428Cys)
c.1130C>G (p.Ser377Cys)
gnomAD v4
8g.143728499G>TCA372468987FAM83Hc.962C>A (p.Ser321Tyr)
c.1565C>A (p.Ser522Tyr)
c.142C>A
c.1019C>A (p.Ser340Tyr)
c.980C>A (p.Ser327Tyr)
c.1283C>A (p.Ser428Tyr)
c.1130C>A (p.Ser377Tyr)
gnomAD v4
8g.143728500A>CCA372468988FAM83Hc.961T>G (p.Ser321Ala)
c.1564T>G (p.Ser522Ala)
c.141T>G
c.1018T>G (p.Ser340Ala)
c.979T>G (p.Ser327Ala)
c.1282T>G (p.Ser428Ala)
c.1129T>G (p.Ser377Ala)
8g.143728500A>GCA372468990FAM83Hc.961T>C (p.Ser321Pro)
c.1564T>C (p.Ser522Pro)
c.141T>C
c.1018T>C (p.Ser340Pro)
c.979T>C (p.Ser327Pro)
c.1282T>C (p.Ser428Pro)
c.1129T>C (p.Ser377Pro)
gnomAD v4
8g.143728500A>TCA372468989FAM83Hc.961T>A (p.Ser321Thr)
c.1564T>A (p.Ser522Thr)
c.141T>A
c.1018T>A (p.Ser340Thr)
c.979T>A (p.Ser327Thr)
c.1282T>A (p.Ser428Thr)
c.1129T>A (p.Ser377Thr)
8g.143728501G>ACA463519812FAM83Hc.960C>T (p.Phe320=)
c.1563C>T (p.Phe521=)
c.140C>T
c.1017C>T (p.Phe339=)
c.978C>T (p.Phe326=)
c.1281C>T (p.Phe427=)
c.1128C>T (p.Phe376=)
dbSNP gnomAD v2 gnomAD v4
8g.143728501G>CCA372468991FAM83Hc.960C>G (p.Phe320Leu)
c.1563C>G (p.Phe521Leu)
c.140C>G
c.1017C>G (p.Phe339Leu)
c.978C>G (p.Phe326Leu)
c.1281C>G (p.Phe427Leu)
c.1128C>G (p.Phe376Leu)
8g.143728501G=CA1825940806FAM83Hc.960C= (p.Phe320=)
c.1563C= (p.Phe521=)
c.140C=
c.1017C= (p.Phe339=)
c.978C= (p.Phe326=)
c.1281C= (p.Phe427=)
c.1128C= (p.Phe376=)
8g.143728501G>TCA372468992FAM83Hc.960C>A (p.Phe320Leu)
c.1563C>A (p.Phe521Leu)
c.140C>A
c.1017C>A (p.Phe339Leu)
c.978C>A (p.Phe326Leu)
c.1281C>A (p.Phe427Leu)
c.1128C>A (p.Phe376Leu)
gnomAD v4
8g.143728502A>CCA372468993FAM83Hc.959T>G (p.Phe320Cys)
c.1562T>G (p.Phe521Cys)
c.139T>G
c.1016T>G (p.Phe339Cys)
c.977T>G (p.Phe326Cys)
c.1280T>G (p.Phe427Cys)
c.1127T>G (p.Phe376Cys)
8g.143728502A>GCA372468994FAM83Hc.959T>C (p.Phe320Ser)
c.1562T>C (p.Phe521Ser)
c.139T>C
c.1016T>C (p.Phe339Ser)
c.977T>C (p.Phe326Ser)
c.1280T>C (p.Phe427Ser)
c.1127T>C (p.Phe376Ser)
8g.143728502A>TCA372468995FAM83Hc.959T>A (p.Phe320Tyr)
c.1562T>A (p.Phe521Tyr)
c.139T>A
c.1016T>A (p.Phe339Tyr)
c.977T>A (p.Phe326Tyr)
c.1280T>A (p.Phe427Tyr)
c.1127T>A (p.Phe376Tyr)
gnomAD v4
8g.143728503A>CCA372468996FAM83Hc.958T>G (p.Phe320Val)
c.1561T>G (p.Phe521Val)
c.138T>G
c.1015T>G (p.Phe339Val)
c.976T>G (p.Phe326Val)
c.1279T>G (p.Phe427Val)
c.1126T>G (p.Phe376Val)
8g.143728503A>GCA372468997FAM83Hc.958T>C (p.Phe320Leu)
c.1561T>C (p.Phe521Leu)
c.138T>C
c.1015T>C (p.Phe339Leu)
c.976T>C (p.Phe326Leu)
c.1279T>C (p.Phe427Leu)
c.1126T>C (p.Phe376Leu)
8g.143728503A>TCA372468998FAM83Hc.958T>A (p.Phe320Ile)
c.1561T>A (p.Phe521Ile)
c.138T>A
c.1015T>A (p.Phe339Ile)
c.976T>A (p.Phe326Ile)
c.1279T>A (p.Phe427Ile)
c.1126T>A (p.Phe376Ile)
gnomAD v4
8g.143728504G>ACA463519819FAM83Hc.957C>T (p.Pro319=)
c.1560C>T (p.Pro520=)
c.137C>T
c.1014C>T (p.Pro338=)
c.975C>T (p.Pro325=)
c.1278C>T (p.Pro426=)
c.1125C>T (p.Pro375=)
gnomAD v4
8g.143728504G>CCA463519821FAM83Hc.957C>G (p.Pro319=)
c.1560C>G (p.Pro520=)
c.137C>G
c.1014C>G (p.Pro338=)
c.975C>G (p.Pro325=)
c.1278C>G (p.Pro426=)
c.1125C>G (p.Pro375=)
8g.143728504G>TCA463519822FAM83Hc.957C>A (p.Pro319=)
c.1560C>A (p.Pro520=)
c.137C>A
c.1014C>A (p.Pro338=)
c.975C>A (p.Pro325=)
c.1278C>A (p.Pro426=)
c.1125C>A (p.Pro375=)
8g.143728505G>ACA4917543FAM83Hc.956C>T (p.Pro319Leu)
c.1559C>T (p.Pro520Leu)
c.136C>T
c.1013C>T (p.Pro338Leu)
c.974C>T (p.Pro325Leu)
c.1277C>T (p.Pro426Leu)
c.1124C>T (p.Pro375Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728505G>CCA372468999FAM83Hc.956C>G (p.Pro319Arg)
c.1559C>G (p.Pro520Arg)
c.136C>G
c.1013C>G (p.Pro338Arg)
c.974C>G (p.Pro325Arg)
c.1277C>G (p.Pro426Arg)
c.1124C>G (p.Pro375Arg)
8g.143728505G=CA1825940807FAM83Hc.956C= (p.Pro319=)
c.1559C= (p.Pro520=)
c.136C=
c.1013C= (p.Pro338=)
c.974C= (p.Pro325=)
c.1277C= (p.Pro426=)
c.1124C= (p.Pro375=)
8g.143728505G>TCA372469000FAM83Hc.956C>A (p.Pro319His)
c.1559C>A (p.Pro520His)
c.136C>A
c.1013C>A (p.Pro338His)
c.974C>A (p.Pro325His)
c.1277C>A (p.Pro426His)
c.1124C>A (p.Pro375His)
gnomAD v4
8g.143728506G>ACA372469001FAM83Hc.955C>T (p.Pro319Ser)
c.1558C>T (p.Pro520Ser)
c.135C>T
c.1012C>T (p.Pro338Ser)
c.973C>T (p.Pro325Ser)
c.1276C>T (p.Pro426Ser)
c.1123C>T (p.Pro375Ser)
gnomAD v4
8g.143728506G>CCA4917544FAM83Hc.955C>G (p.Pro319Ala)
c.1558C>G (p.Pro520Ala)
c.135C>G
c.1012C>G (p.Pro338Ala)
c.973C>G (p.Pro325Ala)
c.1276C>G (p.Pro426Ala)
c.1123C>G (p.Pro375Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728506G=CA1825940808FAM83Hc.955C= (p.Pro319=)
c.1558C= (p.Pro520=)
c.135C=
c.1012C= (p.Pro338=)
c.973C= (p.Pro325=)
c.1276C= (p.Pro426=)
c.1123C= (p.Pro375=)
8g.143728506G>TCA372469002FAM83Hc.955C>A (p.Pro319Thr)
c.1558C>A (p.Pro520Thr)
c.135C>A
c.1012C>A (p.Pro338Thr)
c.973C>A (p.Pro325Thr)
c.1276C>A (p.Pro426Thr)
c.1123C>A (p.Pro375Thr)
8g.143728507G>ACA463519828FAM83Hc.954C>T (p.Thr318=)
c.1557C>T (p.Thr519=)
c.134C>T
c.1011C>T (p.Thr337=)
c.972C>T (p.Thr324=)
c.1275C>T (p.Thr425=)
c.1122C>T (p.Thr374=)
dbSNP gnomAD v3 gnomAD v4
8g.143728507G>CCA463519829FAM83Hc.954C>G (p.Thr318=)
c.1557C>G (p.Thr519=)
c.134C>G
c.1011C>G (p.Thr337=)
c.972C>G (p.Thr324=)
c.1275C>G (p.Thr425=)
c.1122C>G (p.Thr374=)
gnomAD v4
8g.143728507G=CA1825940809FAM83Hc.954C= (p.Thr318=)
c.1557C= (p.Thr519=)
c.134C=
c.1011C= (p.Thr337=)
c.972C= (p.Thr324=)
c.1275C= (p.Thr425=)
c.1122C= (p.Thr374=)
8g.143728507G>TCA4917545FAM83Hc.954C>A (p.Thr318=)
c.1557C>A (p.Thr519=)
c.134C>A
c.1011C>A (p.Thr337=)
c.972C>A (p.Thr324=)
c.1275C>A (p.Thr425=)
c.1122C>A (p.Thr374=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728508G>ACA372469003FAM83Hc.953C>T (p.Thr318Ile)
c.1556C>T (p.Thr519Ile)
c.133C>T
c.1010C>T (p.Thr337Ile)
c.971C>T (p.Thr324Ile)
c.1274C>T (p.Thr425Ile)
c.1121C>T (p.Thr374Ile)
gnomAD v4
8g.143728508G>CCA372469005FAM83Hc.953C>G (p.Thr318Ser)
c.1556C>G (p.Thr519Ser)
c.133C>G
c.1010C>G (p.Thr337Ser)
c.971C>G (p.Thr324Ser)
c.1274C>G (p.Thr425Ser)
c.1121C>G (p.Thr374Ser)
8g.143728508G>TCA372469004FAM83Hc.953C>A (p.Thr318Asn)
c.1556C>A (p.Thr519Asn)
c.133C>A
c.1010C>A (p.Thr337Asn)
c.971C>A (p.Thr324Asn)
c.1274C>A (p.Thr425Asn)
c.1121C>A (p.Thr374Asn)
gnomAD v4
8g.143728509T>ACA4917546FAM83Hc.952A>T (p.Thr318Ser)
c.1555A>T (p.Thr519Ser)
c.132A>T
c.1009A>T (p.Thr337Ser)
c.970A>T (p.Thr324Ser)
c.1273A>T (p.Thr425Ser)
c.1120A>T (p.Thr374Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728509T>CCA372469006FAM83Hc.952A>G (p.Thr318Ala)
c.1555A>G (p.Thr519Ala)
c.132A>G
c.1009A>G (p.Thr337Ala)
c.970A>G (p.Thr324Ala)
c.1273A>G (p.Thr425Ala)
c.1120A>G (p.Thr374Ala)
8g.143728509T>GCA372469007FAM83Hc.952A>C (p.Thr318Pro)
c.1555A>C (p.Thr519Pro)
c.132A>C
c.1009A>C (p.Thr337Pro)
c.970A>C (p.Thr324Pro)
c.1273A>C (p.Thr425Pro)
c.1120A>C (p.Thr374Pro)
8g.143728509T=CA1825940810FAM83Hc.952A= (p.Thr318=)
c.1555A= (p.Thr519=)
c.132A=
c.1009A= (p.Thr337=)
c.970A= (p.Thr324=)
c.1273A= (p.Thr425=)
c.1120A= (p.Thr374=)
8g.143728510T>ACA463519834FAM83Hc.951A>T (p.Pro317=)
c.1554A>T (p.Pro518=)
c.131A>T
c.1008A>T (p.Pro336=)
c.969A>T (p.Pro323=)
c.1272A>T (p.Pro424=)
c.1119A>T (p.Pro373=)
8g.143728510T>CCA4917547FAM83Hc.951A>G (p.Pro317=)
c.1554A>G (p.Pro518=)
c.131A>G
c.1008A>G (p.Pro336=)
c.969A>G (p.Pro323=)
c.1272A>G (p.Pro424=)
c.1119A>G (p.Pro373=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728510T>GCA463519837FAM83Hc.951A>C (p.Pro317=)
c.1554A>C (p.Pro518=)
c.131A>C
c.1008A>C (p.Pro336=)
c.969A>C (p.Pro323=)
c.1272A>C (p.Pro424=)
c.1119A>C (p.Pro373=)
8g.143728510T=CA1825940811FAM83Hc.951A= (p.Pro317=)
c.1554A= (p.Pro518=)
c.131A=
c.1008A= (p.Pro336=)
c.969A= (p.Pro323=)
c.1272A= (p.Pro424=)
c.1119A= (p.Pro373=)
8g.143728510_143728513delCA2688981240FAM83Hc.948_951del (p.Thr318ProfsTer?)
c.1551_1554del (p.Thr519ProfsTer?)
c.128_131del
c.1005_1008del (p.Thr337ProfsTer?)
c.966_969del (p.Thr324ProfsTer?)
c.1269_1272del (p.Thr425ProfsTer?)
c.1116_1119del (p.Thr374ProfsTer?)
gnomAD v4
8g.143728511G>ACA372469008FAM83Hc.950C>T (p.Pro317Leu)
c.1553C>T (p.Pro518Leu)
c.130C>T
c.1007C>T (p.Pro336Leu)
c.968C>T (p.Pro323Leu)
c.1271C>T (p.Pro424Leu)
c.1118C>T (p.Pro373Leu)
gnomAD v4
8g.143728511G>CCA372469009FAM83Hc.950C>G (p.Pro317Arg)
c.1553C>G (p.Pro518Arg)
c.130C>G
c.1007C>G (p.Pro336Arg)
c.968C>G (p.Pro323Arg)
c.1271C>G (p.Pro424Arg)
c.1118C>G (p.Pro373Arg)
8g.143728511G=CA1825940812FAM83Hc.950C= (p.Pro317=)
c.1553C= (p.Pro518=)
c.130C=
c.1007C= (p.Pro336=)
c.968C= (p.Pro323=)
c.1271C= (p.Pro424=)
c.1118C= (p.Pro373=)
8g.143728511G>TCA372469010FAM83Hc.950C>A (p.Pro317Gln)
c.1553C>A (p.Pro518Gln)
c.130C>A
c.1007C>A (p.Pro336Gln)
c.968C>A (p.Pro323Gln)
c.1271C>A (p.Pro424Gln)
c.1118C>A (p.Pro373Gln)
dbSNP gnomAD v3 gnomAD v4
8g.143728512G>ACA372469011FAM83Hc.949C>T (p.Pro317Ser)
c.1552C>T (p.Pro518Ser)
c.129C>T
c.1006C>T (p.Pro336Ser)
c.967C>T (p.Pro323Ser)
c.1270C>T (p.Pro424Ser)
c.1117C>T (p.Pro373Ser)
8g.143728512G>CCA4917548FAM83Hc.949C>G (p.Pro317Ala)
c.1552C>G (p.Pro518Ala)
c.129C>G
c.1006C>G (p.Pro336Ala)
c.967C>G (p.Pro323Ala)
c.1270C>G (p.Pro424Ala)
c.1117C>G (p.Pro373Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728512G=CA1825940813FAM83Hc.949C= (p.Pro317=)
c.1552C= (p.Pro518=)
c.129C=
c.1006C= (p.Pro336=)
c.967C= (p.Pro323=)
c.1270C= (p.Pro424=)
c.1117C= (p.Pro373=)
8g.143728512G>TCA372469012FAM83Hc.949C>A (p.Pro317Thr)
c.1552C>A (p.Pro518Thr)
c.129C>A
c.1006C>A (p.Pro336Thr)
c.967C>A (p.Pro323Thr)
c.1270C>A (p.Pro424Thr)
c.1117C>A (p.Pro373Thr)
8g.143728513C>ACA463519840FAM83Hc.948G>T (p.Ala316=)
c.1551G>T (p.Ala517=)
c.128G>T
c.1005G>T (p.Ala335=)
c.966G>T (p.Ala322=)
c.1269G>T (p.Ala423=)
c.1116G>T (p.Ala372=)
dbSNP gnomAD v2 gnomAD v4
8g.143728513C=CA1825940814FAM83Hc.948G= (p.Ala316=)
c.1551G= (p.Ala517=)
c.128G=
c.1005G= (p.Ala335=)
c.966G= (p.Ala322=)
c.1269G= (p.Ala423=)
c.1116G= (p.Ala372=)
8g.143728513C>GCA463519843FAM83Hc.948G>C (p.Ala316=)
c.1551G>C (p.Ala517=)
c.128G>C
c.1005G>C (p.Ala335=)
c.966G>C (p.Ala322=)
c.1269G>C (p.Ala423=)
c.1116G>C (p.Ala372=)
dbSNP gnomAD v4
8g.143728513C>TCA187605572FAM83Hc.948G>A (p.Ala316=)
c.1551G>A (p.Ala517=)
c.128G>A
c.1005G>A (p.Ala335=)
c.966G>A (p.Ala322=)
c.1269G>A (p.Ala423=)
c.1116G>A (p.Ala372=)
dbSNP gnomAD v4
8g.143728514G>ACA372469015FAM83Hc.947C>T (p.Ala316Val)
c.1550C>T (p.Ala517Val)
c.127C>T
c.1004C>T (p.Ala335Val)
c.965C>T (p.Ala322Val)
c.1268C>T (p.Ala423Val)
c.1115C>T (p.Ala372Val)
dbSNP gnomAD v2 gnomAD v4
8g.143728514G>CCA372469014FAM83Hc.947C>G (p.Ala316Gly)
c.1550C>G (p.Ala517Gly)
c.127C>G
c.1004C>G (p.Ala335Gly)
c.965C>G (p.Ala322Gly)
c.1268C>G (p.Ala423Gly)
c.1115C>G (p.Ala372Gly)
8g.143728514G=CA1825940815FAM83Hc.947C= (p.Ala316=)
c.1550C= (p.Ala517=)
c.127C=
c.1004C= (p.Ala335=)
c.965C= (p.Ala322=)
c.1268C= (p.Ala423=)
c.1115C= (p.Ala372=)
8g.143728514G>TCA372469013FAM83Hc.947C>A (p.Ala316Glu)
c.1550C>A (p.Ala517Glu)
c.127C>A
c.1004C>A (p.Ala335Glu)
c.965C>A (p.Ala322Glu)
c.1268C>A (p.Ala423Glu)
c.1115C>A (p.Ala372Glu)
dbSNP gnomAD v4
8g.143728515C>ACA4917549FAM83Hc.946G>T (p.Ala316Ser)
c.1549G>T (p.Ala517Ser)
c.126G>T
c.1003G>T (p.Ala335Ser)
c.964G>T (p.Ala322Ser)
c.1267G>T (p.Ala423Ser)
c.1114G>T (p.Ala372Ser)
dbSNP ExAC gnomAD v4
8g.143728515C=CA1825940816FAM83Hc.946G= (p.Ala316=)
c.1549G= (p.Ala517=)
c.126G=
c.1003G= (p.Ala335=)
c.964G= (p.Ala322=)
c.1267G= (p.Ala423=)
c.1114G= (p.Ala372=)
8g.143728515C>GCA372469016FAM83Hc.946G>C (p.Ala316Pro)
c.1549G>C (p.Ala517Pro)
c.126G>C
c.1003G>C (p.Ala335Pro)
c.964G>C (p.Ala322Pro)
c.1267G>C (p.Ala423Pro)
c.1114G>C (p.Ala372Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728515C>TCA372469017FAM83Hc.946G>A (p.Ala316Thr)
c.1549G>A (p.Ala517Thr)
c.126G>A
c.1003G>A (p.Ala335Thr)
c.964G>A (p.Ala322Thr)
c.1267G>A (p.Ala423Thr)
c.1114G>A (p.Ala372Thr)
gnomAD v4
8g.143728516C>ACA463519851FAM83Hc.945G>T (p.Gly315=)
c.1548G>T (p.Gly516=)
c.125G>T
c.1002G>T (p.Gly334=)
c.963G>T (p.Gly321=)
c.1266G>T (p.Gly422=)
c.1113G>T (p.Gly371=)
gnomAD v4
8g.143728516C=CA1825940817FAM83Hc.945G= (p.Gly315=)
c.1548G= (p.Gly516=)
c.125G=
c.1002G= (p.Gly334=)
c.963G= (p.Gly321=)
c.1266G= (p.Gly422=)
c.1113G= (p.Gly371=)
8g.143728516C>GCA463519852FAM83Hc.945G>C (p.Gly315=)
c.1548G>C (p.Gly516=)
c.125G>C
c.1002G>C (p.Gly334=)
c.963G>C (p.Gly321=)
c.1266G>C (p.Gly422=)
c.1113G>C (p.Gly371=)
8g.143728516C>TCA4917550FAM83Hc.945G>A (p.Gly315=)
c.1548G>A (p.Gly516=)
c.125G>A
c.1002G>A (p.Gly334=)
c.963G>A (p.Gly321=)
c.1266G>A (p.Gly422=)
c.1113G>A (p.Gly371=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728517C>ACA372469018FAM83Hc.944G>T (p.Gly315Val)
c.1547G>T (p.Gly516Val)
c.124G>T
c.1001G>T (p.Gly334Val)
c.962G>T (p.Gly321Val)
c.1265G>T (p.Gly422Val)
c.1112G>T (p.Gly371Val)
gnomAD v4
8g.143728517C>GCA372469019FAM83Hc.944G>C (p.Gly315Ala)
c.1547G>C (p.Gly516Ala)
c.124G>C
c.1001G>C (p.Gly334Ala)
c.962G>C (p.Gly321Ala)
c.1265G>C (p.Gly422Ala)
c.1112G>C (p.Gly371Ala)
dbSNP
8g.143728517C>TCA372469020FAM83Hc.944G>A (p.Gly315Glu)
c.1547G>A (p.Gly516Glu)
c.124G>A
c.1001G>A (p.Gly334Glu)
c.962G>A (p.Gly321Glu)
c.1265G>A (p.Gly422Glu)
c.1112G>A (p.Gly371Glu)
gnomAD v4
8g.143728518C>ACA372469021FAM83Hc.943G>T (p.Gly315Trp)
c.1546G>T (p.Gly516Trp)
c.123G>T
c.1000G>T (p.Gly334Trp)
c.961G>T (p.Gly321Trp)
c.1264G>T (p.Gly422Trp)
c.1111G>T (p.Gly371Trp)
gnomAD v4
8g.143728518C=CA1825940818FAM83Hc.943G= (p.Gly315=)
c.1546G= (p.Gly516=)
c.123G=
c.1000G= (p.Gly334=)
c.961G= (p.Gly321=)
c.1264G= (p.Gly422=)
c.1111G= (p.Gly371=)
8g.143728518C>GCA372469022FAM83Hc.943G>C (p.Gly315Arg)
c.1546G>C (p.Gly516Arg)
c.123G>C
c.1000G>C (p.Gly334Arg)
c.961G>C (p.Gly321Arg)
c.1264G>C (p.Gly422Arg)
c.1111G>C (p.Gly371Arg)
gnomAD v4
8g.143728518C>TCA372469023FAM83Hc.943G>A (p.Gly315Arg)
c.1546G>A (p.Gly516Arg)
c.123G>A
c.1000G>A (p.Gly334Arg)
c.961G>A (p.Gly321Arg)
c.1264G>A (p.Gly422Arg)
c.1111G>A (p.Gly371Arg)
dbSNP gnomAD v3 gnomAD v4
8g.143728519G>ACA463519860FAM83Hc.942C>T (p.Val314=)
c.1545C>T (p.Val515=)
c.122C>T
c.999C>T (p.Val333=)
c.960C>T (p.Val320=)
c.1263C>T (p.Val421=)
c.1110C>T (p.Val370=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728519G>CCA463519861FAM83Hc.942C>G (p.Val314=)
c.1545C>G (p.Val515=)
c.122C>G
c.999C>G (p.Val333=)
c.960C>G (p.Val320=)
c.1263C>G (p.Val421=)
c.1110C>G (p.Val370=)
8g.143728519G=CA1825940819FAM83Hc.942C= (p.Val314=)
c.1545C= (p.Val515=)
c.122C=
c.999C= (p.Val333=)
c.960C= (p.Val320=)
c.1263C= (p.Val421=)
c.1110C= (p.Val370=)
8g.143728519G>TCA463519862FAM83Hc.942C>A (p.Val314=)
c.1545C>A (p.Val515=)
c.122C>A
c.999C>A (p.Val333=)
c.960C>A (p.Val320=)
c.1263C>A (p.Val421=)
c.1110C>A (p.Val370=)
gnomAD v4
8g.143728520A>CCA372469024FAM83Hc.941T>G (p.Val314Gly)
c.1544T>G (p.Val515Gly)
c.121T>G
c.998T>G (p.Val333Gly)
c.959T>G (p.Val320Gly)
c.1262T>G (p.Val421Gly)
c.1109T>G (p.Val370Gly)
8g.143728520A>GCA372469025FAM83Hc.941T>C (p.Val314Ala)
c.1544T>C (p.Val515Ala)
c.121T>C
c.998T>C (p.Val333Ala)
c.959T>C (p.Val320Ala)
c.1262T>C (p.Val421Ala)
c.1109T>C (p.Val370Ala)
8g.143728520A>TCA372469026FAM83Hc.941T>A (p.Val314Asp)
c.1544T>A (p.Val515Asp)
c.121T>A
c.998T>A (p.Val333Asp)
c.959T>A (p.Val320Asp)
c.1262T>A (p.Val421Asp)
c.1109T>A (p.Val370Asp)
8g.143728521C>ACA372469029FAM83Hc.940G>T (p.Val314Phe)
c.1543G>T (p.Val515Phe)
c.120G>T
c.997G>T (p.Val333Phe)
c.958G>T (p.Val320Phe)
c.1261G>T (p.Val421Phe)
c.1108G>T (p.Val370Phe)
8g.143728521C>GCA372469027FAM83Hc.940G>C (p.Val314Leu)
c.1543G>C (p.Val515Leu)
c.120G>C
c.997G>C (p.Val333Leu)
c.958G>C (p.Val320Leu)
c.1261G>C (p.Val421Leu)
c.1108G>C (p.Val370Leu)
8g.143728521C>TCA372469028FAM83Hc.940G>A (p.Val314Ile)
c.1543G>A (p.Val515Ile)
c.120G>A
c.997G>A (p.Val333Ile)
c.958G>A (p.Val320Ile)
c.1261G>A (p.Val421Ile)
c.1108G>A (p.Val370Ile)
gnomAD v4
8g.143728524delCA2688981256FAM83Hc.940del (p.Val314SerfsTer?)
c.1543del (p.Val515SerfsTer?)
c.120del
c.997del (p.Val333SerfsTer?)
c.958del (p.Val320SerfsTer?)
c.1261del (p.Val421SerfsTer?)
c.1108del (p.Val370SerfsTer?)
gnomAD v4
8g.143728522C>ACA463519867FAM83Hc.939G>T (p.Gly313=)
c.1542G>T (p.Gly514=)
c.119G>T
c.996G>T (p.Gly332=)
c.957G>T (p.Gly319=)
c.1260G>T (p.Gly420=)
c.1107G>T (p.Gly369=)
8g.143728522C=CA1825940820FAM83Hc.939G= (p.Gly313=)
c.1542G= (p.Gly514=)
c.119G=
c.996G= (p.Gly332=)
c.957G= (p.Gly319=)
c.1260G= (p.Gly420=)
c.1107G= (p.Gly369=)
8g.143728522C>GCA463519873FAM83Hc.939G>C (p.Gly313=)
c.1542G>C (p.Gly514=)
c.119G>C
c.996G>C (p.Gly332=)
c.957G>C (p.Gly319=)
c.1260G>C (p.Gly420=)
c.1107G>C (p.Gly369=)
dbSNP gnomAD v4
8g.143728522C>TCA463519872FAM83Hc.939G>A (p.Gly313=)
c.1542G>A (p.Gly514=)
c.119G>A
c.996G>A (p.Gly332=)
c.957G>A (p.Gly319=)
c.1260G>A (p.Gly420=)
c.1107G>A (p.Gly369=)
gnomAD v4
8g.143728526_143728535dupCA2580078633FAM83Hc.930_939dup (p.Val314ArgfsTer14)
c.1533_1542dup (p.Val515ArgfsTer14)
c.110_119dup
c.987_996dup (p.Val333ArgfsTer14)
c.948_957dup (p.Val320ArgfsTer14)
c.1251_1260dup (p.Val421ArgfsTer14)
c.1098_1107dup (p.Val370ArgfsTer14)
ClinVar
8g.143728523C>ACA372469030FAM83Hc.938G>T (p.Gly313Val)
c.1541G>T (p.Gly514Val)
c.118G>T
c.995G>T (p.Gly332Val)
c.956G>T (p.Gly319Val)
c.1259G>T (p.Gly420Val)
c.1106G>T (p.Gly369Val)
8g.143728523C=CA1825940821FAM83Hc.938G= (p.Gly313=)
c.1541G= (p.Gly514=)
c.118G=
c.995G= (p.Gly332=)
c.956G= (p.Gly319=)
c.1259G= (p.Gly420=)
c.1106G= (p.Gly369=)
8g.143728523C>GCA372469031FAM83Hc.938G>C (p.Gly313Ala)
c.1541G>C (p.Gly514Ala)
c.118G>C
c.995G>C (p.Gly332Ala)
c.956G>C (p.Gly319Ala)
c.1259G>C (p.Gly420Ala)
c.1106G>C (p.Gly369Ala)
8g.143728523C>TCA187605581FAM83Hc.938G>A (p.Gly313Glu)
c.1541G>A (p.Gly514Glu)
c.118G>A
c.995G>A (p.Gly332Glu)
c.956G>A (p.Gly319Glu)
c.1259G>A (p.Gly420Glu)
c.1106G>A (p.Gly369Glu)
dbSNP gnomAD v2 gnomAD v4
8g.143728523_143728526delinsCCAGCA1825940822FAM83Hc.935_938delinsCTGG (p.Pro312=)
c.1538_1541delinsCTGG (p.Pro513=)
c.115_118delinsCTGG
c.992_995delinsCTGG (p.Pro331=)
c.953_956delinsCTGG (p.Pro318=)
c.1256_1259delinsCTGG (p.Pro419=)
c.1103_1106delinsCTGG (p.Pro368=)
8g.143728524C>ACA372469033FAM83Hc.937G>T (p.Gly313Trp)
c.1540G>T (p.Gly514Trp)
c.117G>T
c.994G>T (p.Gly332Trp)
c.955G>T (p.Gly319Trp)
c.1258G>T (p.Gly420Trp)
c.1105G>T (p.Gly369Trp)
8g.143728524C>GCA372469034FAM83Hc.937G>C (p.Gly313Arg)
c.1540G>C (p.Gly514Arg)
c.117G>C
c.994G>C (p.Gly332Arg)
c.955G>C (p.Gly319Arg)
c.1258G>C (p.Gly420Arg)
c.1105G>C (p.Gly369Arg)
8g.143728524C>TCA372469036FAM83Hc.937G>A (p.Gly313Arg)
c.1540G>A (p.Gly514Arg)
c.117G>A
c.994G>A (p.Gly332Arg)
c.955G>A (p.Gly319Arg)
c.1258G>A (p.Gly420Arg)
c.1105G>A (p.Gly369Arg)
8g.143728524_143728526delCA1825940823FAM83Hc.935_937del (p.Pro312_Gly313delinsArg)
c.1538_1540del (p.Pro513_Gly514delinsArg)
c.115_117del
c.992_994del (p.Pro331_Gly332delinsArg)
c.953_955del (p.Pro318_Gly319delinsArg)
c.1256_1258del (p.Pro419_Gly420delinsArg)
c.1103_1105del (p.Pro368_Gly369delinsArg)
dbSNP
8g.143728525A>CCA463519880FAM83Hc.936T>G (p.Pro312=)
c.1539T>G (p.Pro513=)
c.116T>G
c.993T>G (p.Pro331=)
c.954T>G (p.Pro318=)
c.1257T>G (p.Pro419=)
c.1104T>G (p.Pro368=)
gnomAD v4
8g.143728525A>GCA463519881FAM83Hc.936T>C (p.Pro312=)
c.1539T>C (p.Pro513=)
c.116T>C
c.993T>C (p.Pro331=)
c.954T>C (p.Pro318=)
c.1257T>C (p.Pro419=)
c.1104T>C (p.Pro368=)
COSMIC
8g.143728525A>TCA463519882FAM83Hc.936T>A (p.Pro312=)
c.1539T>A (p.Pro513=)
c.116T>A
c.993T>A (p.Pro331=)
c.954T>A (p.Pro318=)
c.1257T>A (p.Pro419=)
c.1104T>A (p.Pro368=)
8g.143728526G>ACA372469038FAM83Hc.935C>T (p.Pro312Leu)
c.1538C>T (p.Pro513Leu)
c.115C>T
c.992C>T (p.Pro331Leu)
c.953C>T (p.Pro318Leu)
c.1256C>T (p.Pro419Leu)
c.1103C>T (p.Pro368Leu)
dbSNP
8g.143728526G>CCA372469039FAM83Hc.935C>G (p.Pro312Arg)
c.1538C>G (p.Pro513Arg)
c.115C>G
c.992C>G (p.Pro331Arg)
c.953C>G (p.Pro318Arg)
c.1256C>G (p.Pro419Arg)
c.1103C>G (p.Pro368Arg)
dbSNP gnomAD v3 gnomAD v4
8g.143728526G=CA1825940824FAM83Hc.935C= (p.Pro312=)
c.1538C= (p.Pro513=)
c.115C=
c.992C= (p.Pro331=)
c.953C= (p.Pro318=)
c.1256C= (p.Pro419=)
c.1103C= (p.Pro368=)
8g.143728526G>TCA372469041FAM83Hc.935C>A (p.Pro312His)
c.1538C>A (p.Pro513His)
c.115C>A
c.992C>A (p.Pro331His)
c.953C>A (p.Pro318His)
c.1256C>A (p.Pro419His)
c.1103C>A (p.Pro368His)
gnomAD v4
8g.143728527G>ACA372469043FAM83Hc.934C>T (p.Pro312Ser)
c.1537C>T (p.Pro513Ser)
c.114C>T
c.991C>T (p.Pro331Ser)
c.952C>T (p.Pro318Ser)
c.1255C>T (p.Pro419Ser)
c.1102C>T (p.Pro368Ser)
dbSNP gnomAD v2 gnomAD v4
8g.143728527G>CCA372469045FAM83Hc.934C>G (p.Pro312Ala)
c.1537C>G (p.Pro513Ala)
c.114C>G
c.991C>G (p.Pro331Ala)
c.952C>G (p.Pro318Ala)
c.1255C>G (p.Pro419Ala)
c.1102C>G (p.Pro368Ala)
8g.143728527G=CA1825940825FAM83Hc.934C= (p.Pro312=)
c.1537C= (p.Pro513=)
c.114C=
c.991C= (p.Pro331=)
c.952C= (p.Pro318=)
c.1255C= (p.Pro419=)
c.1102C= (p.Pro368=)
8g.143728527G>TCA372469046FAM83Hc.934C>A (p.Pro312Thr)
c.1537C>A (p.Pro513Thr)
c.114C>A
c.991C>A (p.Pro331Thr)
c.952C>A (p.Pro318Thr)
c.1255C>A (p.Pro419Thr)
c.1102C>A (p.Pro368Thr)
gnomAD v4
8g.143728528G>ACA463519887FAM83Hc.933C>T (p.Val311=)
c.1536C>T (p.Val512=)
c.113C>T
c.990C>T (p.Val330=)
c.951C>T (p.Val317=)
c.1254C>T (p.Val418=)
c.1101C>T (p.Val367=)
dbSNP gnomAD v3 gnomAD v4
8g.143728528G>CCA463519886FAM83Hc.933C>G (p.Val311=)
c.1536C>G (p.Val512=)
c.113C>G
c.990C>G (p.Val330=)
c.951C>G (p.Val317=)
c.1254C>G (p.Val418=)
c.1101C>G (p.Val367=)
8g.143728528G=CA1825940826FAM83Hc.933C= (p.Val311=)
c.1536C= (p.Val512=)
c.113C=
c.990C= (p.Val330=)
c.951C= (p.Val317=)
c.1254C= (p.Val418=)
c.1101C= (p.Val367=)
8g.143728528G>TCA463519885FAM83Hc.933C>A (p.Val311=)
c.1536C>A (p.Val512=)
c.113C>A
c.990C>A (p.Val330=)
c.951C>A (p.Val317=)
c.1254C>A (p.Val418=)
c.1101C>A (p.Val367=)
8g.143728529A>CCA372469053FAM83Hc.932T>G (p.Val311Gly)
c.1535T>G (p.Val512Gly)
c.112T>G
c.989T>G (p.Val330Gly)
c.950T>G (p.Val317Gly)
c.1253T>G (p.Val418Gly)
c.1100T>G (p.Val367Gly)
8g.143728529A>GCA372469051FAM83Hc.932T>C (p.Val311Ala)
c.1535T>C (p.Val512Ala)
c.112T>C
c.989T>C (p.Val330Ala)
c.950T>C (p.Val317Ala)
c.1253T>C (p.Val418Ala)
c.1100T>C (p.Val367Ala)
gnomAD v4
8g.143728529A>TCA372469049FAM83Hc.932T>A (p.Val311Asp)
c.1535T>A (p.Val512Asp)
c.112T>A
c.989T>A (p.Val330Asp)
c.950T>A (p.Val317Asp)
c.1253T>A (p.Val418Asp)
c.1100T>A (p.Val367Asp)
8g.143728530C>ACA372469056FAM83Hc.931G>T (p.Val311Phe)
c.1534G>T (p.Val512Phe)
c.111G>T
c.988G>T (p.Val330Phe)
c.949G>T (p.Val317Phe)
c.1252G>T (p.Val418Phe)
c.1099G>T (p.Val367Phe)
gnomAD v4
8g.143728530C>GCA372469055FAM83Hc.931G>C (p.Val311Leu)
c.1534G>C (p.Val512Leu)
c.111G>C
c.988G>C (p.Val330Leu)
c.949G>C (p.Val317Leu)
c.1252G>C (p.Val418Leu)
c.1099G>C (p.Val367Leu)
8g.143728530C>TCA372469058FAM83Hc.931G>A (p.Val311Ile)
c.1534G>A (p.Val512Ile)
c.111G>A
c.988G>A (p.Val330Ile)
c.949G>A (p.Val317Ile)
c.1252G>A (p.Val418Ile)
c.1099G>A (p.Val367Ile)
gnomAD v4
8g.143728531G>ACA4917551FAM83Hc.930C>T (p.Gly310=)
c.1533C>T (p.Gly511=)
c.110C>T
c.987C>T (p.Gly329=)
c.948C>T (p.Gly316=)
c.1251C>T (p.Gly417=)
c.1098C>T (p.Gly366=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728531G>CCA463519892FAM83Hc.930C>G (p.Gly310=)
c.1533C>G (p.Gly511=)
c.110C>G
c.987C>G (p.Gly329=)
c.948C>G (p.Gly316=)
c.1251C>G (p.Gly417=)
c.1098C>G (p.Gly366=)
8g.143728531G=CA1825940827FAM83Hc.930C= (p.Gly310=)
c.1533C= (p.Gly511=)
c.110C=
c.987C= (p.Gly329=)
c.948C= (p.Gly316=)
c.1251C= (p.Gly417=)
c.1098C= (p.Gly366=)
8g.143728531G>TCA463519894FAM83Hc.930C>A (p.Gly310=)
c.1533C>A (p.Gly511=)
c.110C>A
c.987C>A (p.Gly329=)
c.948C>A (p.Gly316=)
c.1251C>A (p.Gly417=)
c.1098C>A (p.Gly366=)
gnomAD v4
8g.143728531dupCA2695210311FAM83Hc.930dup (p.Val311ArgfsTer14)
c.1533dup (p.Val512ArgfsTer14)
c.110dup
c.987dup (p.Val330ArgfsTer14)
c.948dup (p.Val317ArgfsTer14)
c.1251dup (p.Val418ArgfsTer14)
c.1098dup (p.Val367ArgfsTer14)
8g.143728532C>ACA372469067FAM83Hc.929G>T (p.Gly310Val)
c.1532G>T (p.Gly511Val)
c.109G>T
c.986G>T (p.Gly329Val)
c.947G>T (p.Gly316Val)
c.1250G>T (p.Gly417Val)
c.1097G>T (p.Gly366Val)
8g.143728532C>GCA372469062FAM83Hc.929G>C (p.Gly310Ala)
c.1532G>C (p.Gly511Ala)
c.109G>C
c.986G>C (p.Gly329Ala)
c.947G>C (p.Gly316Ala)
c.1250G>C (p.Gly417Ala)
c.1097G>C (p.Gly366Ala)
gnomAD v4
8g.143728532C>TCA372469065FAM83Hc.929G>A (p.Gly310Asp)
c.1532G>A (p.Gly511Asp)
c.109G>A
c.986G>A (p.Gly329Asp)
c.947G>A (p.Gly316Asp)
c.1250G>A (p.Gly417Asp)
c.1097G>A (p.Gly366Asp)
8g.143728533C>ACA372469069FAM83Hc.928G>T (p.Gly310Cys)
c.1531G>T (p.Gly511Cys)
c.108G>T
c.985G>T (p.Gly329Cys)
c.946G>T (p.Gly316Cys)
c.1249G>T (p.Gly417Cys)
c.1096G>T (p.Gly366Cys)
8g.143728533C=CA1825940829FAM83Hc.928G= (p.Gly310=)
c.1531G= (p.Gly511=)
c.108G=
c.985G= (p.Gly329=)
c.946G= (p.Gly316=)
c.1249G= (p.Gly417=)
c.1096G= (p.Gly366=)
8g.143728533C>GCA372469071FAM83Hc.928G>C (p.Gly310Arg)
c.1531G>C (p.Gly511Arg)
c.108G>C
c.985G>C (p.Gly329Arg)
c.946G>C (p.Gly316Arg)
c.1249G>C (p.Gly417Arg)
c.1096G>C (p.Gly366Arg)
8g.143728533C>TCA372469073FAM83Hc.928G>A (p.Gly310Ser)
c.1531G>A (p.Gly511Ser)
c.108G>A
c.985G>A (p.Gly329Ser)
c.946G>A (p.Gly316Ser)
c.1249G>A (p.Gly417Ser)
c.1096G>A (p.Gly366Ser)
dbSNP gnomAD v2 gnomAD v4
8g.143728533_143728535delinsCCACA1825940828FAM83Hc.926_928delinsTGG (p.Val309=)
c.1529_1531delinsTGG (p.Val510=)
c.106_108delinsTGG
c.983_985delinsTGG (p.Val328=)
c.944_946delinsTGG (p.Val315=)
c.1247_1249delinsTGG (p.Val416=)
c.1094_1096delinsTGG (p.Val365=)
8g.143728534_143728536delCA2688981270FAM83Hc.926_928del (p.Val309del)
c.1529_1531del (p.Val510del)
c.106_108del
c.983_985del (p.Val328del)
c.944_946del (p.Val315del)
c.1247_1249del (p.Val416del)
c.1094_1096del (p.Val365del)
gnomAD v4
8g.143728534C>ACA463519903FAM83Hc.927G>T (p.Val309=)
c.1530G>T (p.Val510=)
c.107G>T
c.984G>T (p.Val328=)
c.945G>T (p.Val315=)
c.1248G>T (p.Val416=)
c.1095G>T (p.Val365=)
8g.143728534C=CA1825940830FAM83Hc.927G= (p.Val309=)
c.1530G= (p.Val510=)
c.107G=
c.984G= (p.Val328=)
c.945G= (p.Val315=)
c.1248G= (p.Val416=)
c.1095G= (p.Val365=)
8g.143728534C>GCA187605594FAM83Hc.927G>C (p.Val309=)
c.1530G>C (p.Val510=)
c.107G>C
c.984G>C (p.Val328=)
c.945G>C (p.Val315=)
c.1248G>C (p.Val416=)
c.1095G>C (p.Val365=)
dbSNP gnomAD v4
8g.143728534C>TCA463519902FAM83Hc.927G>A (p.Val309=)
c.1530G>A (p.Val510=)
c.107G>A
c.984G>A (p.Val328=)
c.945G>A (p.Val315=)
c.1248G>A (p.Val416=)
c.1095G>A (p.Val365=)
gnomAD v4
8g.143728535_143728536delCA658683539FAM83Hc.926_927del (p.Val309GlyfsTer15)
c.1529_1530del (p.Val510GlyfsTer15)
c.106_107del
c.983_984del (p.Val328GlyfsTer15)
c.944_945del (p.Val315GlyfsTer15)
c.1247_1248del (p.Val416GlyfsTer15)
c.1094_1095del (p.Val365GlyfsTer15)
ClinVar dbSNP
8g.143728535A>CCA372469077FAM83Hc.926T>G (p.Val309Gly)
c.1529T>G (p.Val510Gly)
c.106T>G
c.983T>G (p.Val328Gly)
c.944T>G (p.Val315Gly)
c.1247T>G (p.Val416Gly)
c.1094T>G (p.Val365Gly)
8g.143728535A>GCA372469078FAM83Hc.926T>C (p.Val309Ala)
c.1529T>C (p.Val510Ala)
c.106T>C
c.983T>C (p.Val328Ala)
c.944T>C (p.Val315Ala)
c.1247T>C (p.Val416Ala)
c.1094T>C (p.Val365Ala)
8g.143728535A>TCA372469079FAM83Hc.926T>A (p.Val309Glu)
c.1529T>A (p.Val510Glu)
c.106T>A
c.983T>A (p.Val328Glu)
c.944T>A (p.Val315Glu)
c.1247T>A (p.Val416Glu)
c.1094T>A (p.Val365Glu)
8g.143728536C>ACA372469080FAM83Hc.925G>T (p.Val309Leu)
c.1528G>T (p.Val510Leu)
c.105G>T
c.982G>T (p.Val328Leu)
c.943G>T (p.Val315Leu)
c.1246G>T (p.Val416Leu)
c.1093G>T (p.Val365Leu)
8g.143728536C=CA1825940832FAM83Hc.925G= (p.Val309=)
c.1528G= (p.Val510=)
c.105G=
c.982G= (p.Val328=)
c.943G= (p.Val315=)
c.1246G= (p.Val416=)
c.1093G= (p.Val365=)
8g.143728536C>GCA372469081FAM83Hc.925G>C (p.Val309Leu)
c.1528G>C (p.Val510Leu)
c.105G>C
c.982G>C (p.Val328Leu)
c.943G>C (p.Val315Leu)
c.1246G>C (p.Val416Leu)
c.1093G>C (p.Val365Leu)
8g.143728536C>TCA372469082FAM83Hc.925G>A (p.Val309Met)
c.1528G>A (p.Val510Met)
c.105G>A
c.982G>A (p.Val328Met)
c.943G>A (p.Val315Met)
c.1246G>A (p.Val416Met)
c.1093G>A (p.Val365Met)
dbSNP gnomAD v2 gnomAD v4
8g.143728536_143728538delinsCGACA1825940831FAM83Hc.923_925delinsTCG (p.Leu308=)
c.1526_1528delinsTCG (p.Leu509=)
c.103_105delinsTCG
c.980_982delinsTCG (p.Leu327=)
c.941_943delinsTCG (p.Leu314=)
c.1244_1246delinsTCG (p.Leu415=)
c.1091_1093delinsTCG (p.Leu364=)
8g.143728537G>ACA4917552FAM83Hc.924C>T (p.Leu308=)
c.1527C>T (p.Leu509=)
c.104C>T
c.981C>T (p.Leu327=)
c.942C>T (p.Leu314=)
c.1245C>T (p.Leu415=)
c.1092C>T (p.Leu364=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728537G>CCA463519921FAM83Hc.924C>G (p.Leu308=)
c.1527C>G (p.Leu509=)
c.104C>G
c.981C>G (p.Leu327=)
c.942C>G (p.Leu314=)
c.1245C>G (p.Leu415=)
c.1092C>G (p.Leu364=)
8g.143728537G=CA1825940833FAM83Hc.924C= (p.Leu308=)
c.1527C= (p.Leu509=)
c.104C=
c.981C= (p.Leu327=)
c.942C= (p.Leu314=)
c.1245C= (p.Leu415=)
c.1092C= (p.Leu364=)
8g.143728537G>TCA463519917FAM83Hc.924C>A (p.Leu308=)
c.1527C>A (p.Leu509=)
c.104C>A
c.981C>A (p.Leu327=)
c.942C>A (p.Leu314=)
c.1245C>A (p.Leu415=)
c.1092C>A (p.Leu364=)
gnomAD v4
8g.143728540_143728541delCA114510FAM83Hc.923_924del (p.Leu308ArgfsTer16)
c.1526_1527del (p.Leu509ArgfsTer16)
c.103_104del
c.980_981del (p.Leu327ArgfsTer16)
c.941_942del (p.Leu314ArgfsTer16)
c.1244_1245del (p.Leu415ArgfsTer16)
c.1091_1092del (p.Leu364ArgfsTer16)
ClinVar dbSNP
8g.143728538A>CCA372469083FAM83Hc.923T>G (p.Leu308Arg)
c.1526T>G (p.Leu509Arg)
c.103T>G
c.980T>G (p.Leu327Arg)
c.941T>G (p.Leu314Arg)
c.1244T>G (p.Leu415Arg)
c.1091T>G (p.Leu364Arg)
8g.143728538A>GCA372469084FAM83Hc.923T>C (p.Leu308Pro)
c.1526T>C (p.Leu509Pro)
c.103T>C
c.980T>C (p.Leu327Pro)
c.941T>C (p.Leu314Pro)
c.1244T>C (p.Leu415Pro)
c.1091T>C (p.Leu364Pro)
8g.143728538A>TCA372469085FAM83Hc.923T>A (p.Leu308His)
c.1526T>A (p.Leu509His)
c.103T>A
c.980T>A (p.Leu327His)
c.941T>A (p.Leu314His)
c.1244T>A (p.Leu415His)
c.1091T>A (p.Leu364His)
8g.143728538dupCA2695210312FAM83Hc.923dup (p.Val309ArgfsTer16)
c.1526dup (p.Val510ArgfsTer16)
c.103dup
c.980dup (p.Val328ArgfsTer16)
c.941dup (p.Val315ArgfsTer16)
c.1244dup (p.Val416ArgfsTer16)
c.1091dup (p.Val365ArgfsTer16)
8g.143728539G>ACA372469087FAM83Hc.922C>T (p.Leu308Phe)
c.1525C>T (p.Leu509Phe)
c.102C>T
c.979C>T (p.Leu327Phe)
c.940C>T (p.Leu314Phe)
c.1243C>T (p.Leu415Phe)
c.1090C>T (p.Leu364Phe)
dbSNP gnomAD v2 gnomAD v4
8g.143728539G>CCA4917553FAM83Hc.922C>G (p.Leu308Val)
c.1525C>G (p.Leu509Val)
c.102C>G
c.979C>G (p.Leu327Val)
c.940C>G (p.Leu314Val)
c.1243C>G (p.Leu415Val)
c.1090C>G (p.Leu364Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728539G=CA1825940834FAM83Hc.922C= (p.Leu308=)
c.1525C= (p.Leu509=)
c.102C=
c.979C= (p.Leu327=)
c.940C= (p.Leu314=)
c.1243C= (p.Leu415=)
c.1090C= (p.Leu364=)
8g.143728539G>TCA372469089FAM83Hc.922C>A (p.Leu308Ile)
c.1525C>A (p.Leu509Ile)
c.102C>A
c.979C>A (p.Leu327Ile)
c.940C>A (p.Leu314Ile)
c.1243C>A (p.Leu415Ile)
c.1090C>A (p.Leu364Ile)
8g.143728540A=CA1825940835FAM83Hc.921T= (p.Pro307=)
c.1524T= (p.Pro508=)
c.101T=
c.978T= (p.Pro326=)
c.939T= (p.Pro313=)
c.1242T= (p.Pro414=)
c.1089T= (p.Pro363=)
8g.143728540A>CCA463519929FAM83Hc.921T>G (p.Pro307=)
c.1524T>G (p.Pro508=)
c.101T>G
c.978T>G (p.Pro326=)
c.939T>G (p.Pro313=)
c.1242T>G (p.Pro414=)
c.1089T>G (p.Pro363=)
dbSNP gnomAD v4
8g.143728540A>GCA463519930FAM83Hc.921T>C (p.Pro307=)
c.1524T>C (p.Pro508=)
c.101T>C
c.978T>C (p.Pro326=)
c.939T>C (p.Pro313=)
c.1242T>C (p.Pro414=)
c.1089T>C (p.Pro363=)
8g.143728540A>TCA463519928FAM83Hc.921T>A (p.Pro307=)
c.1524T>A (p.Pro508=)
c.101T>A
c.978T>A (p.Pro326=)
c.939T>A (p.Pro313=)
c.1242T>A (p.Pro414=)
c.1089T>A (p.Pro363=)
8g.143728540_143728545dupCA2688981279FAM83Hc.916_921dup (p.Pro307_Leu308insGlyPro)
c.1519_1524dup (p.Pro508_Leu509insGlyPro)
c.96_101dup
c.973_978dup (p.Pro326_Leu327insGlyPro)
c.934_939dup (p.Pro313_Leu314insGlyPro)
c.1237_1242dup (p.Pro414_Leu415insGlyPro)
c.1084_1089dup (p.Pro363_Leu364insGlyPro)
gnomAD v4
8g.143728541G>ACA372469092FAM83Hc.920C>T (p.Pro307Leu)
c.1523C>T (p.Pro508Leu)
c.100C>T
c.977C>T (p.Pro326Leu)
c.938C>T (p.Pro313Leu)
c.1241C>T (p.Pro414Leu)
c.1088C>T (p.Pro363Leu)
8g.143728541G>CCA372469094FAM83Hc.920C>G (p.Pro307Arg)
c.1523C>G (p.Pro508Arg)
c.100C>G
c.977C>G (p.Pro326Arg)
c.938C>G (p.Pro313Arg)
c.1241C>G (p.Pro414Arg)
c.1088C>G (p.Pro363Arg)
8g.143728541G>TCA372469096FAM83Hc.920C>A (p.Pro307His)
c.1523C>A (p.Pro508His)
c.100C>A
c.977C>A (p.Pro326His)
c.938C>A (p.Pro313His)
c.1241C>A (p.Pro414His)
c.1088C>A (p.Pro363His)
8g.143728542G>ACA372469097FAM83Hc.919C>T (p.Pro307Ser)
c.1522C>T (p.Pro508Ser)
c.99C>T
c.976C>T (p.Pro326Ser)
c.937C>T (p.Pro313Ser)
c.1240C>T (p.Pro414Ser)
c.1087C>T (p.Pro363Ser)
gnomAD v4
8g.143728542G>CCA372469098FAM83Hc.919C>G (p.Pro307Ala)
c.1522C>G (p.Pro508Ala)
c.99C>G
c.976C>G (p.Pro326Ala)
c.937C>G (p.Pro313Ala)
c.1240C>G (p.Pro414Ala)
c.1087C>G (p.Pro363Ala)
8g.143728542G=CA1825940836FAM83Hc.919C= (p.Pro307=)
c.1522C= (p.Pro508=)
c.99C=
c.976C= (p.Pro326=)
c.937C= (p.Pro313=)
c.1240C= (p.Pro414=)
c.1087C= (p.Pro363=)
8g.143728542G>TCA372469099FAM83Hc.919C>A (p.Pro307Thr)
c.1522C>A (p.Pro508Thr)
c.99C>A
c.976C>A (p.Pro326Thr)
c.937C>A (p.Pro313Thr)
c.1240C>A (p.Pro414Thr)
c.1087C>A (p.Pro363Thr)
gnomAD v4
8g.143728543C>ACA463519943FAM83Hc.918G>T (p.Gly306=)
c.1521G>T (p.Gly507=)
c.98G>T
c.975G>T (p.Gly325=)
c.936G>T (p.Gly312=)
c.1239G>T (p.Gly413=)
c.1086G>T (p.Gly362=)
8g.143728543C>GCA463519942FAM83Hc.918G>C (p.Gly306=)
c.1521G>C (p.Gly507=)
c.98G>C
c.975G>C (p.Gly325=)
c.936G>C (p.Gly312=)
c.1239G>C (p.Gly413=)
c.1086G>C (p.Gly362=)
8g.143728543C>TCA463519941FAM83Hc.918G>A (p.Gly306=)
c.1521G>A (p.Gly507=)
c.98G>A
c.975G>A (p.Gly325=)
c.936G>A (p.Gly312=)
c.1239G>A (p.Gly413=)
c.1086G>A (p.Gly362=)
8g.143728549_143728554dupCA585729885FAM83Hc.913_918dup (p.Gly306_Pro307insAlaGly)
c.1516_1521dup (p.Gly507_Pro508insAlaGly)
c.93_98dup
c.970_975dup (p.Gly325_Pro326insAlaGly)
c.931_936dup (p.Gly312_Pro313insAlaGly)
c.1234_1239dup (p.Gly413_Pro414insAlaGly)
c.1081_1086dup (p.Gly362_Pro363insAlaGly)
dbSNP gnomAD v2 gnomAD v4
8g.143728544C>ACA372469103FAM83Hc.917G>T (p.Gly306Val)
c.1520G>T (p.Gly507Val)
c.97G>T
c.974G>T (p.Gly325Val)
c.935G>T (p.Gly312Val)
c.1238G>T (p.Gly413Val)
c.1085G>T (p.Gly362Val)
dbSNP gnomAD v4
8g.143728544C=CA1825940837FAM83Hc.917G= (p.Gly306=)
c.1520G= (p.Gly507=)
c.97G=
c.974G= (p.Gly325=)
c.935G= (p.Gly312=)
c.1238G= (p.Gly413=)
c.1085G= (p.Gly362=)
8g.143728544C>GCA372469104FAM83Hc.917G>C (p.Gly306Ala)
c.1520G>C (p.Gly507Ala)
c.97G>C
c.974G>C (p.Gly325Ala)
c.935G>C (p.Gly312Ala)
c.1238G>C (p.Gly413Ala)
c.1085G>C (p.Gly362Ala)
8g.143728544C>TCA372469102FAM83Hc.917G>A (p.Gly306Glu)
c.1520G>A (p.Gly507Glu)
c.97G>A
c.974G>A (p.Gly325Glu)
c.935G>A (p.Gly312Glu)
c.1238G>A (p.Gly413Glu)
c.1085G>A (p.Gly362Glu)
gnomAD v4
8g.143728545C>ACA372469107FAM83Hc.916G>T (p.Gly306Trp)
c.1519G>T (p.Gly507Trp)
c.96G>T
c.973G>T (p.Gly325Trp)
c.934G>T (p.Gly312Trp)
c.1237G>T (p.Gly413Trp)
c.1084G>T (p.Gly362Trp)
8g.143728545C=CA1825940838FAM83Hc.916G= (p.Gly306=)
c.1519G= (p.Gly507=)
c.96G=
c.973G= (p.Gly325=)
c.934G= (p.Gly312=)
c.1237G= (p.Gly413=)
c.1084G= (p.Gly362=)
8g.143728545C>GCA372469109FAM83Hc.916G>C (p.Gly306Arg)
c.1519G>C (p.Gly507Arg)
c.96G>C
c.973G>C (p.Gly325Arg)
c.934G>C (p.Gly312Arg)
c.1237G>C (p.Gly413Arg)
c.1084G>C (p.Gly362Arg)
8g.143728545C>TCA372469110FAM83Hc.916G>A (p.Gly306Arg)
c.1519G>A (p.Gly507Arg)
c.96G>A
c.973G>A (p.Gly325Arg)
c.934G>A (p.Gly312Arg)
c.1237G>A (p.Gly413Arg)
c.1084G>A (p.Gly362Arg)
dbSNP gnomAD v4
8g.143728546G>ACA4917554FAM83Hc.915C>T (p.Ala305=)
c.1518C>T (p.Ala506=)
c.95C>T
c.972C>T (p.Ala324=)
c.933C>T (p.Ala311=)
c.1236C>T (p.Ala412=)
c.1083C>T (p.Ala361=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728546G>CCA463519950FAM83Hc.915C>G (p.Ala305=)
c.1518C>G (p.Ala506=)
c.95C>G
c.972C>G (p.Ala324=)
c.933C>G (p.Ala311=)
c.1236C>G (p.Ala412=)
c.1083C>G (p.Ala361=)
8g.143728546G=CA1825940839FAM83Hc.915C= (p.Ala305=)
c.1518C= (p.Ala506=)
c.95C=
c.972C= (p.Ala324=)
c.933C= (p.Ala311=)
c.1236C= (p.Ala412=)
c.1083C= (p.Ala361=)
8g.143728546G>TCA463519952FAM83Hc.915C>A (p.Ala305=)
c.1518C>A (p.Ala506=)
c.95C>A
c.972C>A (p.Ala324=)
c.933C>A (p.Ala311=)
c.1236C>A (p.Ala412=)
c.1083C>A (p.Ala361=)
8g.143728547G>ACA4917555FAM83Hc.914C>T (p.Ala305Val)
c.1517C>T (p.Ala506Val)
c.94C>T
c.971C>T (p.Ala324Val)
c.932C>T (p.Ala311Val)
c.1235C>T (p.Ala412Val)
c.1082C>T (p.Ala361Val)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728547G>CCA372469113FAM83Hc.914C>G (p.Ala305Gly)
c.1517C>G (p.Ala506Gly)
c.94C>G
c.971C>G (p.Ala324Gly)
c.932C>G (p.Ala311Gly)
c.1235C>G (p.Ala412Gly)
c.1082C>G (p.Ala361Gly)
8g.143728547G=CA1825940840FAM83Hc.914C= (p.Ala305=)
c.1517C= (p.Ala506=)
c.94C=
c.971C= (p.Ala324=)
c.932C= (p.Ala311=)
c.1235C= (p.Ala412=)
c.1082C= (p.Ala361=)
8g.143728547G>TCA372469114FAM83Hc.914C>A (p.Ala305Asp)
c.1517C>A (p.Ala506Asp)
c.94C>A
c.971C>A (p.Ala324Asp)
c.932C>A (p.Ala311Asp)
c.1235C>A (p.Ala412Asp)
c.1082C>A (p.Ala361Asp)
8g.143728548C>ACA372469116FAM83Hc.913G>T (p.Ala305Ser)
c.1516G>T (p.Ala506Ser)
c.93G>T
c.970G>T (p.Ala324Ser)
c.931G>T (p.Ala311Ser)
c.1234G>T (p.Ala412Ser)
c.1081G>T (p.Ala361Ser)
gnomAD v4
8g.143728548C=CA1825940841FAM83Hc.913G= (p.Ala305=)
c.1516G= (p.Ala506=)
c.93G=
c.970G= (p.Ala324=)
c.931G= (p.Ala311=)
c.1234G= (p.Ala412=)
c.1081G= (p.Ala361=)
8g.143728548C>GCA372469120FAM83Hc.913G>C (p.Ala305Pro)
c.1516G>C (p.Ala506Pro)
c.93G>C
c.970G>C (p.Ala324Pro)
c.931G>C (p.Ala311Pro)
c.1234G>C (p.Ala412Pro)
c.1081G>C (p.Ala361Pro)
8g.143728548C>TCA187605611FAM83Hc.913G>A (p.Ala305Thr)
c.1516G>A (p.Ala506Thr)
c.93G>A
c.970G>A (p.Ala324Thr)
c.931G>A (p.Ala311Thr)
c.1234G>A (p.Ala412Thr)
c.1081G>A (p.Ala361Thr)
dbSNP gnomAD v4
8g.143728551delCA2573052982FAM83Hc.913del (p.Ala305ProfsTer?)
c.1516del (p.Ala506ProfsTer?)
c.93del
c.970del (p.Ala324ProfsTer?)
c.931del (p.Ala311ProfsTer?)
c.1234del (p.Ala412ProfsTer?)
c.1081del (p.Ala361ProfsTer?)
dbSNP gnomAD v4
8g.143728549C>ACA463519961FAM83Hc.912G>T (p.Gly304=)
c.1515G>T (p.Gly505=)
c.92G>T
c.969G>T (p.Gly323=)
c.930G>T (p.Gly310=)
c.1233G>T (p.Gly411=)
c.1080G>T (p.Gly360=)
8g.143728549C>GCA463519962FAM83Hc.912G>C (p.Gly304=)
c.1515G>C (p.Gly505=)
c.92G>C
c.969G>C (p.Gly323=)
c.930G>C (p.Gly310=)
c.1233G>C (p.Gly411=)
c.1080G>C (p.Gly360=)
8g.143728549C>TCA463519963FAM83Hc.912G>A (p.Gly304=)
c.1515G>A (p.Gly505=)
c.92G>A
c.969G>A (p.Gly323=)
c.930G>A (p.Gly310=)
c.1233G>A (p.Gly411=)
c.1080G>A (p.Gly360=)
8g.143728550C>ACA372469123FAM83Hc.911G>T (p.Gly304Val)
c.1514G>T (p.Gly505Val)
c.91G>T
c.968G>T (p.Gly323Val)
c.929G>T (p.Gly310Val)
c.1232G>T (p.Gly411Val)
c.1079G>T (p.Gly360Val)
gnomAD v4
8g.143728550C=CA1825940842FAM83Hc.911G= (p.Gly304=)
c.1514G= (p.Gly505=)
c.91G=
c.968G= (p.Gly323=)
c.929G= (p.Gly310=)
c.1232G= (p.Gly411=)
c.1079G= (p.Gly360=)
8g.143728550C>GCA372469125FAM83Hc.911G>C (p.Gly304Ala)
c.1514G>C (p.Gly505Ala)
c.91G>C
c.968G>C (p.Gly323Ala)
c.929G>C (p.Gly310Ala)
c.1232G>C (p.Gly411Ala)
c.1079G>C (p.Gly360Ala)
8g.143728550C>TCA372469127FAM83Hc.911G>A (p.Gly304Glu)
c.1514G>A (p.Gly505Glu)
c.91G>A
c.968G>A (p.Gly323Glu)
c.929G>A (p.Gly310Glu)
c.1232G>A (p.Gly411Glu)
c.1079G>A (p.Gly360Glu)
dbSNP gnomAD v2
8g.143728551C>ACA372469134FAM83Hc.910G>T (p.Gly304Trp)
c.1513G>T (p.Gly505Trp)
c.90G>T
c.967G>T (p.Gly323Trp)
c.928G>T (p.Gly310Trp)
c.1231G>T (p.Gly411Trp)
c.1078G>T (p.Gly360Trp)
dbSNP gnomAD v4
8g.143728551C=CA1825940843FAM83Hc.910G= (p.Gly304=)
c.1513G= (p.Gly505=)
c.90G=
c.967G= (p.Gly323=)
c.928G= (p.Gly310=)
c.1231G= (p.Gly411=)
c.1078G= (p.Gly360=)
8g.143728551C>GCA372469133FAM83Hc.910G>C (p.Gly304Arg)
c.1513G>C (p.Gly505Arg)
c.90G>C
c.967G>C (p.Gly323Arg)
c.928G>C (p.Gly310Arg)
c.1231G>C (p.Gly411Arg)
c.1078G>C (p.Gly360Arg)
dbSNP gnomAD v4
8g.143728551C>TCA372469129FAM83Hc.910G>A (p.Gly304Arg)
c.1513G>A (p.Gly505Arg)
c.90G>A
c.967G>A (p.Gly323Arg)
c.928G>A (p.Gly310Arg)
c.1231G>A (p.Gly411Arg)
c.1078G>A (p.Gly360Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.143728552G>ACA4917556FAM83Hc.909C>T (p.Ala303=)
c.1512C>T (p.Ala504=)
c.89C>T
c.966C>T (p.Ala322=)
c.927C>T (p.Ala309=)
c.1230C>T (p.Ala410=)
c.1077C>T (p.Ala359=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728552G>CCA463519970FAM83Hc.909C>G (p.Ala303=)
c.1512C>G (p.Ala504=)
c.89C>G
c.966C>G (p.Ala322=)
c.927C>G (p.Ala309=)
c.1230C>G (p.Ala410=)
c.1077C>G (p.Ala359=)
8g.143728552G=CA1825940844FAM83Hc.909C= (p.Ala303=)
c.1512C= (p.Ala504=)
c.89C=
c.966C= (p.Ala322=)
c.927C= (p.Ala309=)
c.1230C= (p.Ala410=)
c.1077C= (p.Ala359=)
8g.143728552G>TCA463519971FAM83Hc.909C>A (p.Ala303=)
c.1512C>A (p.Ala504=)
c.89C>A
c.966C>A (p.Ala322=)
c.927C>A (p.Ala309=)
c.1230C>A (p.Ala410=)
c.1077C>A (p.Ala359=)
gnomAD v4
8g.143728553G>ACA372469138FAM83Hc.908C>T (p.Ala303Val)
c.1511C>T (p.Ala504Val)
c.88C>T
c.965C>T (p.Ala322Val)
c.926C>T (p.Ala309Val)
c.1229C>T (p.Ala410Val)
c.1076C>T (p.Ala359Val)
gnomAD v4
8g.143728553G>CCA372469140FAM83Hc.908C>G (p.Ala303Gly)
c.1511C>G (p.Ala504Gly)
c.88C>G
c.965C>G (p.Ala322Gly)
c.926C>G (p.Ala309Gly)
c.1229C>G (p.Ala410Gly)
c.1076C>G (p.Ala359Gly)
8g.143728553G>TCA372469142FAM83Hc.908C>A (p.Ala303Asp)
c.1511C>A (p.Ala504Asp)
c.88C>A
c.965C>A (p.Ala322Asp)
c.926C>A (p.Ala309Asp)
c.1229C>A (p.Ala410Asp)
c.1076C>A (p.Ala359Asp)
gnomAD v4
8g.143728554C>ACA372469144FAM83Hc.907G>T (p.Ala303Ser)
c.1510G>T (p.Ala504Ser)
c.87G>T
c.964G>T (p.Ala322Ser)
c.925G>T (p.Ala309Ser)
c.1228G>T (p.Ala410Ser)
c.1075G>T (p.Ala359Ser)
8g.143728554C>GCA372469148FAM83Hc.907G>C (p.Ala303Pro)
c.1510G>C (p.Ala504Pro)
c.87G>C
c.964G>C (p.Ala322Pro)
c.925G>C (p.Ala309Pro)
c.1228G>C (p.Ala410Pro)
c.1075G>C (p.Ala359Pro)
8g.143728554C>TCA372469150FAM83Hc.907G>A (p.Ala303Thr)
c.1510G>A (p.Ala504Thr)
c.87G>A
c.964G>A (p.Ala322Thr)
c.925G>A (p.Ala309Thr)
c.1228G>A (p.Ala410Thr)
c.1075G>A (p.Ala359Thr)
8g.143728555A>CCA372469152FAM83Hc.906T>G (p.Tyr302Ter)
c.1509T>G (p.Tyr503Ter)
c.86T>G
c.963T>G (p.Tyr321Ter)
c.924T>G (p.Tyr308Ter)
c.1227T>G (p.Tyr409Ter)
c.1074T>G (p.Tyr358Ter)
8g.143728555A>GCA463519976FAM83Hc.906T>C (p.Tyr302=)
c.1509T>C (p.Tyr503=)
c.86T>C
c.963T>C (p.Tyr321=)
c.924T>C (p.Tyr308=)
c.1227T>C (p.Tyr409=)
c.1074T>C (p.Tyr358=)
gnomAD v4
8g.143728555A>TCA372469153FAM83Hc.906T>A (p.Tyr302Ter)
c.1509T>A (p.Tyr503Ter)
c.86T>A
c.963T>A (p.Tyr321Ter)
c.924T>A (p.Tyr308Ter)
c.1227T>A (p.Tyr409Ter)
c.1074T>A (p.Tyr358Ter)
8g.143728556T>ACA372469156FAM83Hc.905A>T (p.Tyr302Phe)
c.1508A>T (p.Tyr503Phe)
c.85A>T
c.962A>T (p.Tyr321Phe)
c.923A>T (p.Tyr308Phe)
c.1226A>T (p.Tyr409Phe)
c.1073A>T (p.Tyr358Phe)
dbSNP
8g.143728556T>CCA372469158FAM83Hc.905A>G (p.Tyr302Cys)
c.1508A>G (p.Tyr503Cys)
c.85A>G
c.962A>G (p.Tyr321Cys)
c.923A>G (p.Tyr308Cys)
c.1226A>G (p.Tyr409Cys)
c.1073A>G (p.Tyr358Cys)
8g.143728556T>GCA372469159FAM83Hc.905A>C (p.Tyr302Ser)
c.1508A>C (p.Tyr503Ser)
c.85A>C
c.962A>C (p.Tyr321Ser)
c.923A>C (p.Tyr308Ser)
c.1226A>C (p.Tyr409Ser)
c.1073A>C (p.Tyr358Ser)
8g.143728556T=CA1825940845FAM83Hc.905A= (p.Tyr302=)
c.1508A= (p.Tyr503=)
c.85A=
c.962A= (p.Tyr321=)
c.923A= (p.Tyr308=)
c.1226A= (p.Tyr409=)
c.1073A= (p.Tyr358=)
8g.143728557A>CCA372469165FAM83Hc.904T>G (p.Tyr302Asp)
c.1507T>G (p.Tyr503Asp)
c.84T>G
c.961T>G (p.Tyr321Asp)
c.922T>G (p.Tyr308Asp)
c.1225T>G (p.Tyr409Asp)
c.1072T>G (p.Tyr358Asp)
8g.143728557A>GCA372469163FAM83Hc.904T>C (p.Tyr302His)
c.1507T>C (p.Tyr503His)
c.84T>C
c.961T>C (p.Tyr321His)
c.922T>C (p.Tyr308His)
c.1225T>C (p.Tyr409His)
c.1072T>C (p.Tyr358His)
8g.143728557A>TCA372469161FAM83Hc.904T>A (p.Tyr302Asn)
c.1507T>A (p.Tyr503Asn)
c.84T>A
c.961T>A (p.Tyr321Asn)
c.922T>A (p.Tyr308Asn)
c.1225T>A (p.Tyr409Asn)
c.1072T>A (p.Tyr358Asn)
8g.143728558C>ACA4917557FAM83Hc.903G>T (p.Pro301=)
c.1506G>T (p.Pro502=)
c.83G>T
c.960G>T (p.Pro320=)
c.921G>T (p.Pro307=)
c.1224G>T (p.Pro408=)
c.1071G>T (p.Pro357=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728558C=CA1825940846FAM83Hc.903G= (p.Pro301=)
c.1506G= (p.Pro502=)
c.83G=
c.960G= (p.Pro320=)
c.921G= (p.Pro307=)
c.1224G= (p.Pro408=)
c.1071G= (p.Pro357=)
8g.143728558C>GCA4917559FAM83Hc.903G>C (p.Pro301=)
c.1506G>C (p.Pro502=)
c.83G>C
c.960G>C (p.Pro320=)
c.921G>C (p.Pro307=)
c.1224G>C (p.Pro408=)
c.1071G>C (p.Pro357=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.143728558C>TCA4917558FAM83Hc.903G>A (p.Pro301=)
c.1506G>A (p.Pro502=)
c.83G>A
c.960G>A (p.Pro320=)
c.921G>A (p.Pro307=)
c.1224G>A (p.Pro408=)
c.1071G>A (p.Pro357=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728559G>ACA372469170FAM83Hc.902C>T (p.Pro301Leu)
c.1505C>T (p.Pro502Leu)
c.82C>T
c.959C>T (p.Pro320Leu)
c.920C>T (p.Pro307Leu)
c.1223C>T (p.Pro408Leu)
c.1070C>T (p.Pro357Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728559G>CCA4917560FAM83Hc.902C>G (p.Pro301Arg)
c.1505C>G (p.Pro502Arg)
c.82C>G
c.959C>G (p.Pro320Arg)
c.920C>G (p.Pro307Arg)
c.1223C>G (p.Pro408Arg)
c.1070C>G (p.Pro357Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728559G=CA1825940847FAM83Hc.902C= (p.Pro301=)
c.1505C= (p.Pro502=)
c.82C=
c.959C= (p.Pro320=)
c.920C= (p.Pro307=)
c.1223C= (p.Pro408=)
c.1070C= (p.Pro357=)
8g.143728559G>TCA372469173FAM83Hc.902C>A (p.Pro301Gln)
c.1505C>A (p.Pro502Gln)
c.82C>A
c.959C>A (p.Pro320Gln)
c.920C>A (p.Pro307Gln)
c.1223C>A (p.Pro408Gln)
c.1070C>A (p.Pro357Gln)
gnomAD v4
8g.143728560G>ACA4917561FAM83Hc.901C>T (p.Pro301Ser)
c.1504C>T (p.Pro502Ser)
c.81C>T
c.958C>T (p.Pro320Ser)
c.919C>T (p.Pro307Ser)
c.1222C>T (p.Pro408Ser)
c.1069C>T (p.Pro357Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.143728560G>CCA372469176FAM83Hc.901C>G (p.Pro301Ala)
c.1504C>G (p.Pro502Ala)
c.81C>G
c.958C>G (p.Pro320Ala)
c.919C>G (p.Pro307Ala)
c.1222C>G (p.Pro408Ala)
c.1069C>G (p.Pro357Ala)
8g.143728560G=CA1825940848FAM83Hc.901C= (p.Pro301=)
c.1504C= (p.Pro502=)
c.81C=
c.958C= (p.Pro320=)
c.919C= (p.Pro307=)
c.1222C= (p.Pro408=)
c.1069C= (p.Pro357=)
8g.143728560G>TCA372469179FAM83Hc.901C>A (p.Pro301Thr)
c.1504C>A (p.Pro502Thr)
c.81C>A
c.958C>A (p.Pro320Thr)
c.919C>A (p.Pro307Thr)
c.1222C>A (p.Pro408Thr)
c.1069C>A (p.Pro357Thr)
gnomAD v4
8g.143728561A>CCA463519999FAM83Hc.900T>G (p.Ala300=)
c.1503T>G (p.Ala501=)
c.80T>G
c.957T>G (p.Ala319=)
c.918T>G (p.Ala306=)
c.1221T>G (p.Ala407=)
c.1068T>G (p.Ala356=)
8g.143728561A>GCA463520002FAM83Hc.900T>C (p.Ala300=)
c.1503T>C (p.Ala501=)
c.80T>C
c.957T>C (p.Ala319=)
c.918T>C (p.Ala306=)
c.1221T>C (p.Ala407=)
c.1068T>C (p.Ala356=)
8g.143728561A>TCA463520005FAM83Hc.900T>A (p.Ala300=)
c.1503T>A (p.Ala501=)
c.80T>A
c.957T>A (p.Ala319=)
c.918T>A (p.Ala306=)
c.1221T>A (p.Ala407=)
c.1068T>A (p.Ala356=)
8g.143728562G>ACA372469183FAM83Hc.899C>T (p.Ala300Val)
c.1502C>T (p.Ala501Val)
c.79C>T
c.956C>T (p.Ala319Val)
c.917C>T (p.Ala306Val)
c.1220C>T (p.Ala407Val)
c.1067C>T (p.Ala356Val)
gnomAD v4
8g.143728562G>CCA372469184FAM83Hc.899C>G (p.Ala300Gly)
c.1502C>G (p.Ala501Gly)
c.79C>G
c.956C>G (p.Ala319Gly)
c.917C>G (p.Ala306Gly)
c.1220C>G (p.Ala407Gly)
c.1067C>G (p.Ala356Gly)
8g.143728562G>TCA372469185FAM83Hc.899C>A (p.Ala300Asp)
c.1502C>A (p.Ala501Asp)
c.79C>A
c.956C>A (p.Ala319Asp)
c.917C>A (p.Ala306Asp)
c.1220C>A (p.Ala407Asp)
c.1067C>A (p.Ala356Asp)
8g.143728563C>ACA372469186FAM83Hc.898G>T (p.Ala300Ser)
c.1501G>T (p.Ala501Ser)
c.78G>T
c.955G>T (p.Ala319Ser)
c.916G>T (p.Ala306Ser)
c.1219G>T (p.Ala407Ser)
c.1066G>T (p.Ala356Ser)
8g.143728563C>GCA372469188FAM83Hc.898G>C (p.Ala300Pro)
c.1501G>C (p.Ala501Pro)
c.78G>C
c.955G>C (p.Ala319Pro)
c.916G>C (p.Ala306Pro)
c.1219G>C (p.Ala407Pro)
c.1066G>C (p.Ala356Pro)
gnomAD v4
8g.143728563C>TCA372469190FAM83Hc.898G>A (p.Ala300Thr)
c.1501G>A (p.Ala501Thr)
c.78G>A
c.955G>A (p.Ala319Thr)
c.916G>A (p.Ala306Thr)
c.1219G>A (p.Ala407Thr)
c.1066G>A (p.Ala356Thr)
8g.143728564C>ACA463520007FAM83Hc.897G>T (p.Leu299=)
c.1500G>T (p.Leu500=)
c.77G>T
c.954G>T (p.Leu318=)
c.915G>T (p.Leu305=)
c.1218G>T (p.Leu406=)
c.1065G>T (p.Leu355=)
8g.143728564C>GCA463520010FAM83Hc.897G>C (p.Leu299=)
c.1500G>C (p.Leu500=)
c.77G>C
c.954G>C (p.Leu318=)
c.915G>C (p.Leu305=)
c.1218G>C (p.Leu406=)
c.1065G>C (p.Leu355=)
8g.143728564C>TCA463520008FAM83Hc.897G>A (p.Leu299=)
c.1500G>A (p.Leu500=)
c.77G>A
c.954G>A (p.Leu318=)
c.915G>A (p.Leu305=)
c.1218G>A (p.Leu406=)
c.1065G>A (p.Leu355=)
8g.143728565A>CCA372469191FAM83Hc.896T>G (p.Leu299Arg)
c.1499T>G (p.Leu500Arg)
c.76T>G
c.953T>G (p.Leu318Arg)
c.914T>G (p.Leu305Arg)
c.1217T>G (p.Leu406Arg)
c.1064T>G (p.Leu355Arg)
8g.143728565A>GCA372469194FAM83Hc.896T>C (p.Leu299Pro)
c.1499T>C (p.Leu500Pro)
c.76T>C
c.953T>C (p.Leu318Pro)
c.914T>C (p.Leu305Pro)
c.1217T>C (p.Leu406Pro)
c.1064T>C (p.Leu355Pro)
8g.143728565A>TCA372469192FAM83Hc.896T>A (p.Leu299Gln)
c.1499T>A (p.Leu500Gln)
c.76T>A
c.953T>A (p.Leu318Gln)
c.914T>A (p.Leu305Gln)
c.1217T>A (p.Leu406Gln)
c.1064T>A (p.Leu355Gln)
8g.143728566G>ACA463520017FAM83Hc.895C>T (p.Leu299=)
c.1498C>T (p.Leu500=)
c.75C>T
c.952C>T (p.Leu318=)
c.913C>T (p.Leu305=)
c.1216C>T (p.Leu406=)
c.1063C>T (p.Leu355=)
dbSNP
8g.143728566G>CCA372469196FAM83Hc.895C>G (p.Leu299Val)
c.1498C>G (p.Leu500Val)
c.75C>G
c.952C>G (p.Leu318Val)
c.913C>G (p.Leu305Val)
c.1216C>G (p.Leu406Val)
c.1063C>G (p.Leu355Val)
8g.143728566G=CA1825940849FAM83Hc.895C= (p.Leu299=)
c.1498C= (p.Leu500=)
c.75C=
c.952C= (p.Leu318=)
c.913C= (p.Leu305=)
c.1216C= (p.Leu406=)
c.1063C= (p.Leu355=)
8g.143728566G>TCA372469198FAM83Hc.895C>A (p.Leu299Met)
c.1498C>A (p.Leu500Met)
c.75C>A
c.952C>A (p.Leu318Met)
c.913C>A (p.Leu305Met)
c.1216C>A (p.Leu406Met)
c.1063C>A (p.Leu355Met)
gnomAD v4
8g.143728567G>ACA463520018FAM83Hc.894C>T (p.Ala298=)
c.1497C>T (p.Ala499=)
c.74C>T
c.951C>T (p.Ala317=)
c.912C>T (p.Ala304=)
c.1215C>T (p.Ala405=)
c.1062C>T (p.Ala354=)
dbSNP gnomAD v4
8g.143728567G>CCA463520023FAM83Hc.894C>G (p.Ala298=)
c.1497C>G (p.Ala499=)
c.74C>G
c.951C>G (p.Ala317=)
c.912C>G (p.Ala304=)
c.1215C>G (p.Ala405=)
c.1062C>G (p.Ala354=)
gnomAD v4
8g.143728567G>TCA463520020FAM83Hc.894C>A (p.Ala298=)
c.1497C>A (p.Ala499=)
c.74C>A
c.951C>A (p.Ala317=)
c.912C>A (p.Ala304=)
c.1215C>A (p.Ala405=)
c.1062C>A (p.Ala354=)
8g.143728568G>ACA372469202FAM83Hc.893C>T (p.Ala298Val)
c.1496C>T (p.Ala499Val)
c.73C>T
c.950C>T (p.Ala317Val)
c.911C>T (p.Ala304Val)
c.1214C>T (p.Ala405Val)
c.1061C>T (p.Ala354Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.143728568G>CCA372469203FAM83Hc.893C>G (p.Ala298Gly)
c.1496C>G (p.Ala499Gly)
c.73C>G
c.950C>G (p.Ala317Gly)
c.911C>G (p.Ala304Gly)
c.1214C>G (p.Ala405Gly)
c.1061C>G (p.Ala354Gly)
8g.143728568G=CA1825940850FAM83Hc.893C= (p.Ala298=)
c.1496C= (p.Ala499=)
c.73C=
c.950C= (p.Ala317=)
c.911C= (p.Ala304=)
c.1214C= (p.Ala405=)
c.1061C= (p.Ala354=)
8g.143728568G>TCA372469206FAM83Hc.893C>A (p.Ala298Asp)
c.1496C>A (p.Ala499Asp)
c.73C>A
c.950C>A (p.Ala317Asp)
c.911C>A (p.Ala304Asp)
c.1214C>A (p.Ala405Asp)
c.1061C>A (p.Ala354Asp)
8g.143728569C>ACA372469209FAM83Hc.892G>T (p.Ala298Ser)
c.1495G>T (p.Ala499Ser)
c.72G>T
c.949G>T (p.Ala317Ser)
c.910G>T (p.Ala304Ser)
c.1213G>T (p.Ala405Ser)
c.1060G>T (p.Ala354Ser)
8g.143728569C=CA1825940851FAM83Hc.892G= (p.Ala298=)
c.1495G= (p.Ala499=)
c.72G=
c.949G= (p.Ala317=)
c.910G= (p.Ala304=)
c.1213G= (p.Ala405=)
c.1060G= (p.Ala354=)
8g.143728569C>GCA372469211FAM83Hc.892G>C (p.Ala298Pro)
c.1495G>C (p.Ala499Pro)
c.72G>C
c.949G>C (p.Ala317Pro)
c.910G>C (p.Ala304Pro)
c.1213G>C (p.Ala405Pro)
c.1060G>C (p.Ala354Pro)
dbSNP
8g.143728569C>TCA372469212FAM83Hc.892G>A (p.Ala298Thr)
c.1495G>A (p.Ala499Thr)
c.72G>A
c.949G>A (p.Ala317Thr)
c.910G>A (p.Ala304Thr)
c.1213G>A (p.Ala405Thr)
c.1060G>A (p.Ala354Thr)
dbSNP gnomAD v2 gnomAD v4
8g.143728570A=CA1825940852FAM83Hc.891T= (p.Tyr297=)
c.1494T= (p.Tyr498=)
c.71T=
c.948T= (p.Tyr316=)
c.909T= (p.Tyr303=)
c.1212T= (p.Tyr404=)
c.1059T= (p.Tyr353=)
8g.143728570A>CCA372469213FAM83Hc.891T>G (p.Tyr297Ter)
c.1494T>G (p.Tyr498Ter)
c.71T>G
c.948T>G (p.Tyr316Ter)
c.909T>G (p.Tyr303Ter)
c.1212T>G (p.Tyr404Ter)
c.1059T>G (p.Tyr353Ter)
8g.143728570A>GCA463520032FAM83Hc.891T>C (p.Tyr297=)
c.1494T>C (p.Tyr498=)
c.71T>C
c.948T>C (p.Tyr316=)
c.909T>C (p.Tyr303=)
c.1212T>C (p.Tyr404=)
c.1059T>C (p.Tyr353=)
gnomAD v4
8g.143728570A>TCA114497FAM83Hc.891T>A (p.Tyr297Ter)
c.1494T>A (p.Tyr498Ter)
c.71T>A
c.948T>A (p.Tyr316Ter)
c.909T>A (p.Tyr303Ter)
c.1212T>A (p.Tyr404Ter)
c.1059T>A (p.Tyr353Ter)
ClinVar dbSNP
8g.143728571T>ACA372469218FAM83Hc.890A>T (p.Tyr297Phe)
c.1493A>T (p.Tyr498Phe)
c.70A>T
c.947A>T (p.Tyr316Phe)
c.908A>T (p.Tyr303Phe)
c.1211A>T (p.Tyr404Phe)
c.1058A>T (p.Tyr353Phe)
8g.143728571T>CCA372469220FAM83Hc.890A>G (p.Tyr297Cys)
c.1493A>G (p.Tyr498Cys)
c.70A>G
c.947A>G (p.Tyr316Cys)
c.908A>G (p.Tyr303Cys)
c.1211A>G (p.Tyr404Cys)
c.1058A>G (p.Tyr353Cys)
dbSNP gnomAD v3 gnomAD v4
8g.143728571T>GCA372469216FAM83Hc.890A>C (p.Tyr297Ser)
c.1493A>C (p.Tyr498Ser)
c.70A>C
c.947A>C (p.Tyr316Ser)
c.908A>C (p.Tyr303Ser)
c.1211A>C (p.Tyr404Ser)
c.1058A>C (p.Tyr353Ser)
8g.143728571T=CA1825940853FAM83Hc.890A= (p.Tyr297=)
c.1493A= (p.Tyr498=)
c.70A=
c.947A= (p.Tyr316=)
c.908A= (p.Tyr303=)
c.1211A= (p.Tyr404=)
c.1058A= (p.Tyr353=)
8g.143728572A>CCA372469221FAM83Hc.889T>G (p.Tyr297Asp)
c.1492T>G (p.Tyr498Asp)
c.69T>G
c.946T>G (p.Tyr316Asp)
c.907T>G (p.Tyr303Asp)
c.1210T>G (p.Tyr404Asp)
c.1057T>G (p.Tyr353Asp)
8g.143728572A>GCA372469223FAM83Hc.889T>C (p.Tyr297His)
c.1492T>C (p.Tyr498His)
c.69T>C
c.946T>C (p.Tyr316His)
c.907T>C (p.Tyr303His)
c.1210T>C (p.Tyr404His)
c.1057T>C (p.Tyr353His)
8g.143728572A>TCA372469224FAM83Hc.889T>A (p.Tyr297Asn)
c.1492T>A (p.Tyr498Asn)
c.69T>A
c.946T>A (p.Tyr316Asn)
c.907T>A (p.Tyr303Asn)
c.1210T>A (p.Tyr404Asn)
c.1057T>A (p.Tyr353Asn)
8g.143728573G>ACA463519879FAM83Hc.888C>T (p.Ala296=)
c.1491C>T (p.Ala497=)
c.68C>T
c.945C>T (p.Ala315=)
c.906C>T (p.Ala302=)
c.1209C>T (p.Ala403=)
c.1056C>T (p.Ala352=)
gnomAD v4
8g.143728573G>CCA463519884FAM83Hc.888C>G (p.Ala296=)
c.1491C>G (p.Ala497=)
c.68C>G
c.945C>G (p.Ala315=)
c.906C>G (p.Ala302=)
c.1209C>G (p.Ala403=)
c.1056C>G (p.Ala352=)
8g.143728573G>TCA463519883FAM83Hc.888C>A (p.Ala296=)
c.1491C>A (p.Ala497=)
c.68C>A
c.945C>A (p.Ala315=)
c.906C>A (p.Ala302=)
c.1209C>A (p.Ala403=)
c.1056C>A (p.Ala352=)
8g.143728574G>ACA372469226FAM83Hc.887C>T (p.Ala296Val)
c.1490C>T (p.Ala497Val)
c.67C>T
c.944C>T (p.Ala315Val)
c.905C>T (p.Ala302Val)
c.1208C>T (p.Ala403Val)
c.1055C>T (p.Ala352Val)
8g.143728574G>CCA372469228FAM83Hc.887C>G (p.Ala296Gly)
c.1490C>G (p.Ala497Gly)
c.67C>G
c.944C>G (p.Ala315Gly)
c.905C>G (p.Ala302Gly)
c.1208C>G (p.Ala403Gly)
c.1055C>G (p.Ala352Gly)
8g.143728574G=CA1825940854FAM83Hc.887C= (p.Ala296=)
c.1490C= (p.Ala497=)
c.67C=
c.944C= (p.Ala315=)
c.905C= (p.Ala302=)
c.1208C= (p.Ala403=)
c.1055C= (p.Ala352=)
8g.143728574G>TCA372469229FAM83Hc.887C>A (p.Ala296Asp)
c.1490C>A (p.Ala497Asp)
c.67C>A
c.944C>A (p.Ala315Asp)
c.905C>A (p.Ala302Asp)
c.1208C>A (p.Ala403Asp)
c.1055C>A (p.Ala352Asp)
dbSNP gnomAD v4
8g.143728575C>ACA372469231FAM83Hc.886G>T (p.Ala296Ser)
c.1489G>T (p.Ala497Ser)
c.66G>T
c.943G>T (p.Ala315Ser)
c.904G>T (p.Ala302Ser)
c.1207G>T (p.Ala403Ser)
c.1054G>T (p.Ala352Ser)
gnomAD v4
8g.143728575C=CA1825940855FAM83Hc.886G= (p.Ala296=)
c.1489G= (p.Ala497=)
c.66G=
c.943G= (p.Ala315=)
c.904G= (p.Ala302=)
c.1207G= (p.Ala403=)
c.1054G= (p.Ala352=)
8g.143728575C>GCA372469233FAM83Hc.886G>C (p.Ala296Pro)
c.1489G>C (p.Ala497Pro)
c.66G>C
c.943G>C (p.Ala315Pro)
c.904G>C (p.Ala302Pro)
c.1207G>C (p.Ala403Pro)
c.1054G>C (p.Ala352Pro)
8g.143728575C>TCA4917562FAM83Hc.886G>A (p.Ala296Thr)
c.1489G>A (p.Ala497Thr)
c.66G>A
c.943G>A (p.Ala315Thr)
c.904G>A (p.Ala302Thr)
c.1207G>A (p.Ala403Thr)
c.1054G>A (p.Ala352Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched