Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.143728475A= | CA1825940792 | FAM83H | c.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=) | |
8 | g.143728475A>C | CA372468936 | FAM83H | c.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) | |
8 | g.143728475A>G | CA372468937 | FAM83H | c.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 |
8 | g.143728475A>T | CA372468938 | FAM83H | c.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) | |
8 | g.143728476G>A | CA463519730 | FAM83H | c.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 |
8 | g.143728476G>C | CA372468939 | FAM83H | c.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) | |
8 | g.143728476G= | CA1825940793 | FAM83H | c.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=) | |
8 | g.143728476G>T | CA372468940 | FAM83H | c.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 |
8 | g.143728477G>A | CA463519731 | FAM83H | c.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 |
8 | g.143728477G>C | CA463519732 | FAM83H | c.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 |
8 | g.143728477G= | CA1825940794 | FAM83H | c.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=) | |
8 | g.143728477G>T | CA463519735 | FAM83H | c.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 |
8 | g.143728478A>C | CA372468941 | FAM83H | c.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) | |
8 | g.143728478A>G | CA372468942 | FAM83H | c.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 |
8 | g.143728478A>T | CA372468943 | FAM83H | c.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 |
8 | g.143728479G>A | CA372468944 | FAM83H | c.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 |
8 | g.143728479G>C | CA372468945 | FAM83H | c.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) | |
8 | g.143728479G= | CA1825940795 | FAM83H | c.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=) | |
8 | g.143728479G>T | CA372468946 | FAM83H | c.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 |
8 | g.143728480G>A | CA463519743 | FAM83H | c.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 |
8 | g.143728480G>C | CA372468947 | FAM83H | c.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) | |
8 | g.143728480G>T | CA372468948 | FAM83H | c.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) | |
8 | g.143728481T>A | CA372468949 | FAM83H | c.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 |
8 | g.143728481T>C | CA372468950 | FAM83H | c.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 |
8 | g.143728481T>G | CA372468951 | FAM83H | c.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 |
8 | g.143728481T= | CA1825940796 | FAM83H | c.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=) | |
8 | g.143728482G>A | CA372468952 | FAM83H | c.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 |
8 | g.143728482G>C | CA372468953 | FAM83H | c.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) | |
8 | g.143728482G>T | CA372468954 | FAM83H | c.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 |
8 | g.143728483C>A | CA463519758 | FAM83H | c.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=) | |
8 | g.143728483C= | CA1825940797 | FAM83H | c.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=) | |
8 | g.143728483C>G | CA4917539 | FAM83H | c.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 |
8 | g.143728483C>T | CA463519760 | FAM83H | c.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 |
8 | g.143728484G>A | CA372468955 | FAM83H | c.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 |
8 | g.143728484G>C | CA372468956 | FAM83H | c.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 |
8 | g.143728484G= | CA1825940798 | FAM83H | c.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=) | |
8 | g.143728484G>T | CA372468957 | FAM83H | c.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 |
8 | g.143728485C>A | CA372468958 | FAM83H | c.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 |
8 | g.143728485C= | CA1825940799 | FAM83H | c.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=) | |
8 | g.143728485C>G | CA372468959 | FAM83H | c.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) | |
8 | g.143728485C>T | CA372468960 | FAM83H | c.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 |
8 | g.143728486T>A | CA463519764 | FAM83H | c.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=) | |
8 | g.143728486T>C | CA463519766 | FAM83H | c.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 |
8 | g.143728486T>G | CA463519765 | FAM83H | c.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=) | |
8 | g.143728487C>A | CA372468961 | FAM83H | c.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 |
8 | g.143728487C>G | CA372468963 | FAM83H | c.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 |
8 | g.143728487C>T | CA372468962 | FAM83H | c.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 |
8 | g.143728488G>A | CA114491 | FAM83H | c.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 |
8 | g.143728488G>C | CA372468964 | FAM83H | c.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) | |
8 | g.143728488G= | CA1825940800 | FAM83H | c.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=) | |
8 | g.143728488G>T | CA463519771 | FAM83H | c.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 |
8 | g.143728489T>A | CA372468965 | FAM83H | c.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) | |
8 | g.143728489T>C | CA463519774 | FAM83H | c.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=) | |
8 | g.143728489T>G | CA372468966 | FAM83H | c.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) | |
8 | g.143728490T>A | CA372468967 | FAM83H | c.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) | |
8 | g.143728490T>C | CA372468968 | FAM83H | c.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 |
8 | g.143728490T>G | CA372468969 | FAM83H | c.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) | |
8 | g.143728490T= | CA1825940801 | FAM83H | c.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=) | |
8 | g.143728491T>A | CA372468970 | FAM83H | c.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) | |
8 | g.143728491T>C | CA372468971 | FAM83H | c.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) | |
8 | g.143728491T>G | CA372468972 | FAM83H | c.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) | |
8 | g.143728492A>C | CA463519781 | FAM83H | c.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=) | |
8 | g.143728492A>G | CA463519780 | FAM83H | c.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 |
8 | g.143728492A>T | CA463519778 | FAM83H | c.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 |
8 | g.143728493G>A | CA372468973 | FAM83H | c.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) | |
8 | g.143728493G>C | CA372468974 | FAM83H | c.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 |
8 | g.143728493G= | CA1825940802 | FAM83H | c.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=) | |
8 | g.143728493G>T | CA372468975 | FAM83H | c.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 |
8 | g.143728494G>A | CA4917540 | FAM83H | c.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 |
8 | g.143728494G>C | CA372468976 | FAM83H | c.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) | |
8 | g.143728494G= | CA1825940803 | FAM83H | c.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=) | |
8 | g.143728494G>T | CA372468977 | FAM83H | c.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) | |
8 | g.143728495G>A | CA463519793 | FAM83H | c.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 |
8 | g.143728495G>C | CA4917541 | FAM83H | c.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 |
8 | g.143728495G= | CA1825940804 | FAM83H | c.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=) | |
8 | g.143728495G>T | CA372468978 | FAM83H | c.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 |
8 | g.143728496A>C | CA372468979 | FAM83H | c.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) | |
8 | g.143728496A>G | CA372468980 | FAM83H | c.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 |
8 | g.143728496A>T | CA372468981 | FAM83H | c.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) | |
8 | g.143728497A>C | CA372468982 | FAM83H | c.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) | |
8 | g.143728497A>G | CA372468983 | FAM83H | c.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 |
8 | g.143728497A>T | CA372468984 | FAM83H | c.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) | |
8 | g.143728499_143728501del | CA2579273275 | FAM83H | c.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) | |
8 | g.143728498G>A | CA4917542 | FAM83H | c.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 |
8 | g.143728498G>C | CA463519801 | FAM83H | c.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=) | |
8 | g.143728498G= | CA1825940805 | FAM83H | c.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=) | |
8 | g.143728498G>T | CA463519802 | FAM83H | c.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 |
8 | g.143728499G>A | CA372468985 | FAM83H | c.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 |
8 | g.143728499G>C | CA372468986 | FAM83H | c.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 |
8 | g.143728499G>T | CA372468987 | FAM83H | c.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 |
8 | g.143728500A>C | CA372468988 | FAM83H | c.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) | |
8 | g.143728500A>G | CA372468990 | FAM83H | c.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 |
8 | g.143728500A>T | CA372468989 | FAM83H | c.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) | |
8 | g.143728501G>A | CA463519812 | FAM83H | c.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 |
8 | g.143728501G>C | CA372468991 | FAM83H | c.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) | |
8 | g.143728501G= | CA1825940806 | FAM83H | c.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=) | |
8 | g.143728501G>T | CA372468992 | FAM83H | c.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 |
8 | g.143728502A>C | CA372468993 | FAM83H | c.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) | |
8 | g.143728502A>G | CA372468994 | FAM83H | c.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) | |
8 | g.143728502A>T | CA372468995 | FAM83H | c.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 |
8 | g.143728503A>C | CA372468996 | FAM83H | c.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) | |
8 | g.143728503A>G | CA372468997 | FAM83H | c.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) | |
8 | g.143728503A>T | CA372468998 | FAM83H | c.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 |
8 | g.143728504G>A | CA463519819 | FAM83H | c.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 |
8 | g.143728504G>C | CA463519821 | FAM83H | c.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=) | |
8 | g.143728504G>T | CA463519822 | FAM83H | c.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=) | |
8 | g.143728505G>A | CA4917543 | FAM83H | c.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 |
8 | g.143728505G>C | CA372468999 | FAM83H | c.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) | |
8 | g.143728505G= | CA1825940807 | FAM83H | c.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=) | |
8 | g.143728505G>T | CA372469000 | FAM83H | c.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 |
8 | g.143728506G>A | CA372469001 | FAM83H | c.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 |
8 | g.143728506G>C | CA4917544 | FAM83H | c.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 |
8 | g.143728506G= | CA1825940808 | FAM83H | c.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=) | |
8 | g.143728506G>T | CA372469002 | FAM83H | c.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) | |
8 | g.143728507G>A | CA463519828 | FAM83H | c.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 |
8 | g.143728507G>C | CA463519829 | FAM83H | c.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 |
8 | g.143728507G= | CA1825940809 | FAM83H | c.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=) | |
8 | g.143728507G>T | CA4917545 | FAM83H | c.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 |
8 | g.143728508G>A | CA372469003 | FAM83H | c.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 |
8 | g.143728508G>C | CA372469005 | FAM83H | c.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) | |
8 | g.143728508G>T | CA372469004 | FAM83H | c.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 |
8 | g.143728509T>A | CA4917546 | FAM83H | c.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 |
8 | g.143728509T>C | CA372469006 | FAM83H | c.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) | |
8 | g.143728509T>G | CA372469007 | FAM83H | c.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) | |
8 | g.143728509T= | CA1825940810 | FAM83H | c.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=) | |
8 | g.143728510T>A | CA463519834 | FAM83H | c.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=) | |
8 | g.143728510T>C | CA4917547 | FAM83H | c.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 |
8 | g.143728510T>G | CA463519837 | FAM83H | c.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=) | |
8 | g.143728510T= | CA1825940811 | FAM83H | c.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=) | |
8 | g.143728510_143728513del | CA2688981240 | FAM83H | c.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 |
8 | g.143728511G>A | CA372469008 | FAM83H | c.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 |
8 | g.143728511G>C | CA372469009 | FAM83H | c.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) | |
8 | g.143728511G= | CA1825940812 | FAM83H | c.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=) | |
8 | g.143728511G>T | CA372469010 | FAM83H | c.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 |
8 | g.143728512G>A | CA372469011 | FAM83H | c.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) | |
8 | g.143728512G>C | CA4917548 | FAM83H | c.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 |
8 | g.143728512G= | CA1825940813 | FAM83H | c.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=) | |
8 | g.143728512G>T | CA372469012 | FAM83H | c.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) | |
8 | g.143728513C>A | CA463519840 | FAM83H | c.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 |
8 | g.143728513C= | CA1825940814 | FAM83H | c.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=) | |
8 | g.143728513C>G | CA463519843 | FAM83H | c.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 |
8 | g.143728513C>T | CA187605572 | FAM83H | c.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 |
8 | g.143728514G>A | CA372469015 | FAM83H | c.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 |
8 | g.143728514G>C | CA372469014 | FAM83H | c.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) | |
8 | g.143728514G= | CA1825940815 | FAM83H | c.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=) | |
8 | g.143728514G>T | CA372469013 | FAM83H | c.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 |
8 | g.143728515C>A | CA4917549 | FAM83H | c.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 |
8 | g.143728515C= | CA1825940816 | FAM83H | c.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=) | |
8 | g.143728515C>G | CA372469016 | FAM83H | c.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 |
8 | g.143728515C>T | CA372469017 | FAM83H | c.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 |
8 | g.143728516C>A | CA463519851 | FAM83H | c.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 |
8 | g.143728516C= | CA1825940817 | FAM83H | c.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=) | |
8 | g.143728516C>G | CA463519852 | FAM83H | c.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=) | |
8 | g.143728516C>T | CA4917550 | FAM83H | c.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 |
8 | g.143728517C>A | CA372469018 | FAM83H | c.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 |
8 | g.143728517C>G | CA372469019 | FAM83H | c.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 |
8 | g.143728517C>T | CA372469020 | FAM83H | c.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 |
8 | g.143728518C>A | CA372469021 | FAM83H | c.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 |
8 | g.143728518C= | CA1825940818 | FAM83H | c.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=) | |
8 | g.143728518C>G | CA372469022 | FAM83H | c.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 |
8 | g.143728518C>T | CA372469023 | FAM83H | c.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 |
8 | g.143728519G>A | CA463519860 | FAM83H | c.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 |
8 | g.143728519G>C | CA463519861 | FAM83H | c.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=) | |
8 | g.143728519G= | CA1825940819 | FAM83H | c.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=) | |
8 | g.143728519G>T | CA463519862 | FAM83H | c.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 |
8 | g.143728520A>C | CA372469024 | FAM83H | c.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) | |
8 | g.143728520A>G | CA372469025 | FAM83H | c.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) | |
8 | g.143728520A>T | CA372469026 | FAM83H | c.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) | |
8 | g.143728521C>A | CA372469029 | FAM83H | c.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) | |
8 | g.143728521C>G | CA372469027 | FAM83H | c.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) | |
8 | g.143728521C>T | CA372469028 | FAM83H | c.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 |
8 | g.143728524del | CA2688981256 | FAM83H | c.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 |
8 | g.143728522C>A | CA463519867 | FAM83H | c.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=) | |
8 | g.143728522C= | CA1825940820 | FAM83H | c.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=) | |
8 | g.143728522C>G | CA463519873 | FAM83H | c.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 |
8 | g.143728522C>T | CA463519872 | FAM83H | c.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 |
8 | g.143728526_143728535dup | CA2580078633 | FAM83H | c.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 |
8 | g.143728523C>A | CA372469030 | FAM83H | c.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) | |
8 | g.143728523C= | CA1825940821 | FAM83H | c.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=) | |
8 | g.143728523C>G | CA372469031 | FAM83H | c.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) | |
8 | g.143728523C>T | CA187605581 | FAM83H | c.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 |
8 | g.143728523_143728526delinsCCAG | CA1825940822 | FAM83H | c.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=) | |
8 | g.143728524C>A | CA372469033 | FAM83H | c.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) | |
8 | g.143728524C>G | CA372469034 | FAM83H | c.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) | |
8 | g.143728524C>T | CA372469036 | FAM83H | c.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) | |
8 | g.143728524_143728526del | CA1825940823 | FAM83H | c.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 |
8 | g.143728525A>C | CA463519880 | FAM83H | c.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 |
8 | g.143728525A>G | CA463519881 | FAM83H | c.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 |
8 | g.143728525A>T | CA463519882 | FAM83H | c.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=) | |
8 | g.143728526G>A | CA372469038 | FAM83H | c.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 |
8 | g.143728526G>C | CA372469039 | FAM83H | c.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 |
8 | g.143728526G= | CA1825940824 | FAM83H | c.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=) | |
8 | g.143728526G>T | CA372469041 | FAM83H | c.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 |
8 | g.143728527G>A | CA372469043 | FAM83H | c.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 |
8 | g.143728527G>C | CA372469045 | FAM83H | c.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) | |
8 | g.143728527G= | CA1825940825 | FAM83H | c.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=) | |
8 | g.143728527G>T | CA372469046 | FAM83H | c.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 |
8 | g.143728528G>A | CA463519887 | FAM83H | c.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 |
8 | g.143728528G>C | CA463519886 | FAM83H | c.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=) | |
8 | g.143728528G= | CA1825940826 | FAM83H | c.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=) | |
8 | g.143728528G>T | CA463519885 | FAM83H | c.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=) | |
8 | g.143728529A>C | CA372469053 | FAM83H | c.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) | |
8 | g.143728529A>G | CA372469051 | FAM83H | c.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 |
8 | g.143728529A>T | CA372469049 | FAM83H | c.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) | |
8 | g.143728530C>A | CA372469056 | FAM83H | c.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 |
8 | g.143728530C>G | CA372469055 | FAM83H | c.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) | |
8 | g.143728530C>T | CA372469058 | FAM83H | c.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 |
8 | g.143728531G>A | CA4917551 | FAM83H | c.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 |
8 | g.143728531G>C | CA463519892 | FAM83H | c.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=) | |
8 | g.143728531G= | CA1825940827 | FAM83H | c.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=) | |
8 | g.143728531G>T | CA463519894 | FAM83H | c.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 |
8 | g.143728531dup | CA2695210311 | FAM83H | c.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) | |
8 | g.143728532C>A | CA372469067 | FAM83H | c.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) | |
8 | g.143728532C>G | CA372469062 | FAM83H | c.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 |
8 | g.143728532C>T | CA372469065 | FAM83H | c.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) | |
8 | g.143728533C>A | CA372469069 | FAM83H | c.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) | |
8 | g.143728533C= | CA1825940829 | FAM83H | c.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=) | |
8 | g.143728533C>G | CA372469071 | FAM83H | c.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) | |
8 | g.143728533C>T | CA372469073 | FAM83H | c.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 |
8 | g.143728533_143728535delinsCCA | CA1825940828 | FAM83H | c.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=) | |
8 | g.143728534_143728536del | CA2688981270 | FAM83H | c.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 |
8 | g.143728534C>A | CA463519903 | FAM83H | c.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=) | |
8 | g.143728534C= | CA1825940830 | FAM83H | c.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=) | |
8 | g.143728534C>G | CA187605594 | FAM83H | c.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 |
8 | g.143728534C>T | CA463519902 | FAM83H | c.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 |
8 | g.143728535_143728536del | CA658683539 | FAM83H | c.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 |
8 | g.143728535A>C | CA372469077 | FAM83H | c.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) | |
8 | g.143728535A>G | CA372469078 | FAM83H | c.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) | |
8 | g.143728535A>T | CA372469079 | FAM83H | c.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) | |
8 | g.143728536C>A | CA372469080 | FAM83H | c.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) | |
8 | g.143728536C= | CA1825940832 | FAM83H | c.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=) | |
8 | g.143728536C>G | CA372469081 | FAM83H | c.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) | |
8 | g.143728536C>T | CA372469082 | FAM83H | c.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 |
8 | g.143728536_143728538delinsCGA | CA1825940831 | FAM83H | c.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=) | |
8 | g.143728537G>A | CA4917552 | FAM83H | c.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 |
8 | g.143728537G>C | CA463519921 | FAM83H | c.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=) | |
8 | g.143728537G= | CA1825940833 | FAM83H | c.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=) | |
8 | g.143728537G>T | CA463519917 | FAM83H | c.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 |
8 | g.143728540_143728541del | CA114510 | FAM83H | c.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 |
8 | g.143728538A>C | CA372469083 | FAM83H | c.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) | |
8 | g.143728538A>G | CA372469084 | FAM83H | c.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) | |
8 | g.143728538A>T | CA372469085 | FAM83H | c.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) | |
8 | g.143728538dup | CA2695210312 | FAM83H | c.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) | |
8 | g.143728539G>A | CA372469087 | FAM83H | c.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 |
8 | g.143728539G>C | CA4917553 | FAM83H | c.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 |
8 | g.143728539G= | CA1825940834 | FAM83H | c.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=) | |
8 | g.143728539G>T | CA372469089 | FAM83H | c.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) | |
8 | g.143728540A= | CA1825940835 | FAM83H | c.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=) | |
8 | g.143728540A>C | CA463519929 | FAM83H | c.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 |
8 | g.143728540A>G | CA463519930 | FAM83H | c.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=) | |
8 | g.143728540A>T | CA463519928 | FAM83H | c.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=) | |
8 | g.143728540_143728545dup | CA2688981279 | FAM83H | c.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 |
8 | g.143728541G>A | CA372469092 | FAM83H | c.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) | |
8 | g.143728541G>C | CA372469094 | FAM83H | c.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) | |
8 | g.143728541G>T | CA372469096 | FAM83H | c.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) | |
8 | g.143728542G>A | CA372469097 | FAM83H | c.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 |
8 | g.143728542G>C | CA372469098 | FAM83H | c.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) | |
8 | g.143728542G= | CA1825940836 | FAM83H | c.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=) | |
8 | g.143728542G>T | CA372469099 | FAM83H | c.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 |
8 | g.143728543C>A | CA463519943 | FAM83H | c.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=) | |
8 | g.143728543C>G | CA463519942 | FAM83H | c.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=) | |
8 | g.143728543C>T | CA463519941 | FAM83H | c.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=) | |
8 | g.143728549_143728554dup | CA585729885 | FAM83H | c.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 |
8 | g.143728544C>A | CA372469103 | FAM83H | c.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 |
8 | g.143728544C= | CA1825940837 | FAM83H | c.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=) | |
8 | g.143728544C>G | CA372469104 | FAM83H | c.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) | |
8 | g.143728544C>T | CA372469102 | FAM83H | c.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 |
8 | g.143728545C>A | CA372469107 | FAM83H | c.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) | |
8 | g.143728545C= | CA1825940838 | FAM83H | c.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=) | |
8 | g.143728545C>G | CA372469109 | FAM83H | c.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) | |
8 | g.143728545C>T | CA372469110 | FAM83H | c.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 |
8 | g.143728546G>A | CA4917554 | FAM83H | c.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 |
8 | g.143728546G>C | CA463519950 | FAM83H | c.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=) | |
8 | g.143728546G= | CA1825940839 | FAM83H | c.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=) | |
8 | g.143728546G>T | CA463519952 | FAM83H | c.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=) | |
8 | g.143728547G>A | CA4917555 | FAM83H | c.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 |
8 | g.143728547G>C | CA372469113 | FAM83H | c.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) | |
8 | g.143728547G= | CA1825940840 | FAM83H | c.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=) | |
8 | g.143728547G>T | CA372469114 | FAM83H | c.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) | |
8 | g.143728548C>A | CA372469116 | FAM83H | c.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 |
8 | g.143728548C= | CA1825940841 | FAM83H | c.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=) | |
8 | g.143728548C>G | CA372469120 | FAM83H | c.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) | |
8 | g.143728548C>T | CA187605611 | FAM83H | c.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 |
8 | g.143728551del | CA2573052982 | FAM83H | c.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 |
8 | g.143728549C>A | CA463519961 | FAM83H | c.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=) | |
8 | g.143728549C>G | CA463519962 | FAM83H | c.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=) | |
8 | g.143728549C>T | CA463519963 | FAM83H | c.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=) | |
8 | g.143728550C>A | CA372469123 | FAM83H | c.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 |
8 | g.143728550C= | CA1825940842 | FAM83H | c.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=) | |
8 | g.143728550C>G | CA372469125 | FAM83H | c.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) | |
8 | g.143728550C>T | CA372469127 | FAM83H | c.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 |
8 | g.143728551C>A | CA372469134 | FAM83H | c.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 |
8 | g.143728551C= | CA1825940843 | FAM83H | c.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=) | |
8 | g.143728551C>G | CA372469133 | FAM83H | c.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 |
8 | g.143728551C>T | CA372469129 | FAM83H | c.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 |
8 | g.143728552G>A | CA4917556 | FAM83H | c.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 |
8 | g.143728552G>C | CA463519970 | FAM83H | c.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=) | |
8 | g.143728552G= | CA1825940844 | FAM83H | c.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=) | |
8 | g.143728552G>T | CA463519971 | FAM83H | c.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 |
8 | g.143728553G>A | CA372469138 | FAM83H | c.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 |
8 | g.143728553G>C | CA372469140 | FAM83H | c.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) | |
8 | g.143728553G>T | CA372469142 | FAM83H | c.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 |
8 | g.143728554C>A | CA372469144 | FAM83H | c.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) | |
8 | g.143728554C>G | CA372469148 | FAM83H | c.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) | |
8 | g.143728554C>T | CA372469150 | FAM83H | c.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) | |
8 | g.143728555A>C | CA372469152 | FAM83H | c.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) | |
8 | g.143728555A>G | CA463519976 | FAM83H | c.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 |
8 | g.143728555A>T | CA372469153 | FAM83H | c.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) | |
8 | g.143728556T>A | CA372469156 | FAM83H | c.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 |
8 | g.143728556T>C | CA372469158 | FAM83H | c.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) | |
8 | g.143728556T>G | CA372469159 | FAM83H | c.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) | |
8 | g.143728556T= | CA1825940845 | FAM83H | c.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=) | |
8 | g.143728557A>C | CA372469165 | FAM83H | c.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) | |
8 | g.143728557A>G | CA372469163 | FAM83H | c.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) | |
8 | g.143728557A>T | CA372469161 | FAM83H | c.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) | |
8 | g.143728558C>A | CA4917557 | FAM83H | c.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 |
8 | g.143728558C= | CA1825940846 | FAM83H | c.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=) | |
8 | g.143728558C>G | CA4917559 | FAM83H | c.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 |
8 | g.143728558C>T | CA4917558 | FAM83H | c.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 |
8 | g.143728559G>A | CA372469170 | FAM83H | c.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 |
8 | g.143728559G>C | CA4917560 | FAM83H | c.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 |
8 | g.143728559G= | CA1825940847 | FAM83H | c.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=) | |
8 | g.143728559G>T | CA372469173 | FAM83H | c.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 |
8 | g.143728560G>A | CA4917561 | FAM83H | c.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 |
8 | g.143728560G>C | CA372469176 | FAM83H | c.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) | |
8 | g.143728560G= | CA1825940848 | FAM83H | c.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=) | |
8 | g.143728560G>T | CA372469179 | FAM83H | c.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 |
8 | g.143728561A>C | CA463519999 | FAM83H | c.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=) | |
8 | g.143728561A>G | CA463520002 | FAM83H | c.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=) | |
8 | g.143728561A>T | CA463520005 | FAM83H | c.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=) | |
8 | g.143728562G>A | CA372469183 | FAM83H | c.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 |
8 | g.143728562G>C | CA372469184 | FAM83H | c.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) | |
8 | g.143728562G>T | CA372469185 | FAM83H | c.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) | |
8 | g.143728563C>A | CA372469186 | FAM83H | c.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) | |
8 | g.143728563C>G | CA372469188 | FAM83H | c.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 |
8 | g.143728563C>T | CA372469190 | FAM83H | c.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) | |
8 | g.143728564C>A | CA463520007 | FAM83H | c.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=) | |
8 | g.143728564C>G | CA463520010 | FAM83H | c.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=) | |
8 | g.143728564C>T | CA463520008 | FAM83H | c.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=) | |
8 | g.143728565A>C | CA372469191 | FAM83H | c.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) | |
8 | g.143728565A>G | CA372469194 | FAM83H | c.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) | |
8 | g.143728565A>T | CA372469192 | FAM83H | c.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) | |
8 | g.143728566G>A | CA463520017 | FAM83H | c.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 |
8 | g.143728566G>C | CA372469196 | FAM83H | c.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) | |
8 | g.143728566G= | CA1825940849 | FAM83H | c.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=) | |
8 | g.143728566G>T | CA372469198 | FAM83H | c.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 |
8 | g.143728567G>A | CA463520018 | FAM83H | c.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 |
8 | g.143728567G>C | CA463520023 | FAM83H | c.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 |
8 | g.143728567G>T | CA463520020 | FAM83H | c.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=) | |
8 | g.143728568G>A | CA372469202 | FAM83H | c.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 |
8 | g.143728568G>C | CA372469203 | FAM83H | c.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) | |
8 | g.143728568G= | CA1825940850 | FAM83H | c.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=) | |
8 | g.143728568G>T | CA372469206 | FAM83H | c.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) | |
8 | g.143728569C>A | CA372469209 | FAM83H | c.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) | |
8 | g.143728569C= | CA1825940851 | FAM83H | c.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=) | |
8 | g.143728569C>G | CA372469211 | FAM83H | c.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 |
8 | g.143728569C>T | CA372469212 | FAM83H | c.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 |
8 | g.143728570A= | CA1825940852 | FAM83H | c.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=) | |
8 | g.143728570A>C | CA372469213 | FAM83H | c.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) | |
8 | g.143728570A>G | CA463520032 | FAM83H | c.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 |
8 | g.143728570A>T | CA114497 | FAM83H | c.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 |
8 | g.143728571T>A | CA372469218 | FAM83H | c.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) | |
8 | g.143728571T>C | CA372469220 | FAM83H | c.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 |
8 | g.143728571T>G | CA372469216 | FAM83H | c.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) | |
8 | g.143728571T= | CA1825940853 | FAM83H | c.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=) | |
8 | g.143728572A>C | CA372469221 | FAM83H | c.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) | |
8 | g.143728572A>G | CA372469223 | FAM83H | c.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) | |
8 | g.143728572A>T | CA372469224 | FAM83H | c.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) | |
8 | g.143728573G>A | CA463519879 | FAM83H | c.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 |
8 | g.143728573G>C | CA463519884 | FAM83H | c.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=) | |
8 | g.143728573G>T | CA463519883 | FAM83H | c.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=) | |
8 | g.143728574G>A | CA372469226 | FAM83H | c.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) | |
8 | g.143728574G>C | CA372469228 | FAM83H | c.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) | |
8 | g.143728574G= | CA1825940854 | FAM83H | c.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=) | |
8 | g.143728574G>T | CA372469229 | FAM83H | c.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 |
8 | g.143728575C>A | CA372469231 | FAM83H | c.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 |
8 | g.143728575C= | CA1825940855 | FAM83H | c.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=) | |
8 | g.143728575C>G | CA372469233 | FAM83H | c.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) | |
8 | g.143728575C>T | CA4917562 | FAM83H | c.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 |