| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143728449G>A | CA463519677 | FAM83H | c.1012C>T (p.Leu338=) c.1615C>T (p.Leu539=) c.192C>T c.1069C>T (p.Leu357=) c.1030C>T (p.Leu344=) c.1333C>T (p.Leu445=) c.1180C>T (p.Leu394=) | gnomAD v4 |
| 8 | g.143728449G>C | CA372468862 | FAM83H | c.1012C>G (p.Leu338Val) c.1615C>G (p.Leu539Val) c.192C>G c.1069C>G (p.Leu357Val) c.1030C>G (p.Leu344Val) c.1333C>G (p.Leu445Val) c.1180C>G (p.Leu394Val) | |
| 8 | g.143728449G>T | CA372468863 | FAM83H | c.1012C>A (p.Leu338Met) c.1615C>A (p.Leu539Met) c.192C>A c.1069C>A (p.Leu357Met) c.1030C>A (p.Leu344Met) c.1333C>A (p.Leu445Met) c.1180C>A (p.Leu394Met) | gnomAD v4 |
| 8 | g.143728450G>A | CA463519680 | FAM83H | c.1011C>T (p.Gly337=) c.1614C>T (p.Gly538=) c.191C>T c.1068C>T (p.Gly356=) c.1029C>T (p.Gly343=) c.1332C>T (p.Gly444=) c.1179C>T (p.Gly393=) | gnomAD v4 |
| 8 | g.143728450G>C | CA463519679 | FAM83H | c.1011C>G (p.Gly337=) c.1614C>G (p.Gly538=) c.191C>G c.1068C>G (p.Gly356=) c.1029C>G (p.Gly343=) c.1332C>G (p.Gly444=) c.1179C>G (p.Gly393=) | |
| 8 | g.143728450G>T | CA463519678 | FAM83H | c.1011C>A (p.Gly337=) c.1614C>A (p.Gly538=) c.191C>A c.1068C>A (p.Gly356=) c.1029C>A (p.Gly343=) c.1332C>A (p.Gly444=) c.1179C>A (p.Gly393=) | gnomAD v4 |
| 8 | g.143728450_143728455del | CA2579273274 | FAM83H | c.1006_1011del (p.Glu336_Gly337del) c.1609_1614del (p.Glu537_Gly538del) c.186_191del c.1063_1068del (p.Glu355_Gly356del) c.1024_1029del (p.Glu342_Gly343del) c.1327_1332del (p.Glu443_Gly444del) c.1174_1179del (p.Glu392_Gly393del) | |
| 8 | g.143728451C>A | CA372468865 | FAM83H | c.1010G>T (p.Gly337Val) c.1613G>T (p.Gly538Val) c.190G>T c.1067G>T (p.Gly356Val) c.1028G>T (p.Gly343Val) c.1331G>T (p.Gly444Val) c.1178G>T (p.Gly393Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728451C= | CA1825940780 | FAM83H | c.1010G= (p.Gly337=) c.1613G= (p.Gly538=) c.190G= c.1067G= (p.Gly356=) c.1028G= (p.Gly343=) c.1331G= (p.Gly444=) c.1178G= (p.Gly393=) | |
| 8 | g.143728451C>G | CA372468866 | FAM83H | c.1010G>C (p.Gly337Ala) c.1613G>C (p.Gly538Ala) c.190G>C c.1067G>C (p.Gly356Ala) c.1028G>C (p.Gly343Ala) c.1331G>C (p.Gly444Ala) c.1178G>C (p.Gly393Ala) | gnomAD v4 |
| 8 | g.143728451C>T | CA372468867 | FAM83H | c.1010G>A (p.Gly337Asp) c.1613G>A (p.Gly538Asp) c.190G>A c.1067G>A (p.Gly356Asp) c.1028G>A (p.Gly343Asp) c.1331G>A (p.Gly444Asp) c.1178G>A (p.Gly393Asp) | gnomAD v4 |
| 8 | g.143728452C>A | CA372468869 | FAM83H | c.1009G>T (p.Gly337Cys) c.1612G>T (p.Gly538Cys) c.189G>T c.1066G>T (p.Gly356Cys) c.1027G>T (p.Gly343Cys) c.1330G>T (p.Gly444Cys) c.1177G>T (p.Gly393Cys) | gnomAD v4 |
| 8 | g.143728452C>G | CA372468871 | FAM83H | c.1009G>C (p.Gly337Arg) c.1612G>C (p.Gly538Arg) c.189G>C c.1066G>C (p.Gly356Arg) c.1027G>C (p.Gly343Arg) c.1330G>C (p.Gly444Arg) c.1177G>C (p.Gly393Arg) | |
| 8 | g.143728452C>T | CA372468872 | FAM83H | c.1009G>A (p.Gly337Ser) c.1612G>A (p.Gly538Ser) c.189G>A c.1066G>A (p.Gly356Ser) c.1027G>A (p.Gly343Ser) c.1330G>A (p.Gly444Ser) c.1177G>A (p.Gly393Ser) | gnomAD v3 gnomAD v4 |
| 8 | g.143728453C>A | CA372468873 | FAM83H | c.1008G>T (p.Glu336Asp) c.1611G>T (p.Glu537Asp) c.188G>T c.1065G>T (p.Glu355Asp) c.1026G>T (p.Glu342Asp) c.1329G>T (p.Glu443Asp) c.1176G>T (p.Glu392Asp) | gnomAD v4 |
| 8 | g.143728453C= | CA1825940781 | FAM83H | c.1008G= (p.Glu336=) c.1611G= (p.Glu537=) c.188G= c.1065G= (p.Glu355=) c.1026G= (p.Glu342=) c.1329G= (p.Glu443=) c.1176G= (p.Glu392=) | |
| 8 | g.143728453C>G | CA372468874 | FAM83H | c.1008G>C (p.Glu336Asp) c.1611G>C (p.Glu537Asp) c.188G>C c.1065G>C (p.Glu355Asp) c.1026G>C (p.Glu342Asp) c.1329G>C (p.Glu443Asp) c.1176G>C (p.Glu392Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728453C>T | CA463519682 | FAM83H | c.1008G>A (p.Glu336=) c.1611G>A (p.Glu537=) c.188G>A c.1065G>A (p.Glu355=) c.1026G>A (p.Glu342=) c.1329G>A (p.Glu443=) c.1176G>A (p.Glu392=) | |
| 8 | g.143728454T>A | CA372468875 | FAM83H | c.1007A>T (p.Glu336Val) c.1610A>T (p.Glu537Val) c.187A>T c.1064A>T (p.Glu355Val) c.1025A>T (p.Glu342Val) c.1328A>T (p.Glu443Val) c.1175A>T (p.Glu392Val) | |
| 8 | g.143728454T>C | CA372468877 | FAM83H | c.1007A>G (p.Glu336Gly) c.1610A>G (p.Glu537Gly) c.187A>G c.1064A>G (p.Glu355Gly) c.1025A>G (p.Glu342Gly) c.1328A>G (p.Glu443Gly) c.1175A>G (p.Glu392Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728454T>G | CA372468878 | FAM83H | c.1007A>C (p.Glu336Ala) c.1610A>C (p.Glu537Ala) c.187A>C c.1064A>C (p.Glu355Ala) c.1025A>C (p.Glu342Ala) c.1328A>C (p.Glu443Ala) c.1175A>C (p.Glu392Ala) | dbSNP |
| 8 | g.143728454T= | CA1825940782 | FAM83H | c.1007A= (p.Glu336=) c.1610A= (p.Glu537=) c.187A= c.1064A= (p.Glu355=) c.1025A= (p.Glu342=) c.1328A= (p.Glu443=) c.1175A= (p.Glu392=) | |
| 8 | g.143728455C>A | CA372468879 | FAM83H | c.1006G>T (p.Glu336Ter) c.1609G>T (p.Glu537Ter) c.186G>T c.1063G>T (p.Glu355Ter) c.1024G>T (p.Glu342Ter) c.1327G>T (p.Glu443Ter) c.1174G>T (p.Glu392Ter) | gnomAD v4 |
| 8 | g.143728455C>G | CA372468883 | FAM83H | c.1006G>C (p.Glu336Gln) c.1609G>C (p.Glu537Gln) c.186G>C c.1063G>C (p.Glu355Gln) c.1024G>C (p.Glu342Gln) c.1327G>C (p.Glu443Gln) c.1174G>C (p.Glu392Gln) | gnomAD v4 |
| 8 | g.143728455C>T | CA372468881 | FAM83H | c.1006G>A (p.Glu336Lys) c.1609G>A (p.Glu537Lys) c.186G>A c.1063G>A (p.Glu355Lys) c.1024G>A (p.Glu342Lys) c.1327G>A (p.Glu443Lys) c.1174G>A (p.Glu392Lys) | gnomAD v4 |
| 8 | g.143728456T>A | CA372468885 | FAM83H | c.1005A>T (p.Glu335Asp) c.1608A>T (p.Glu536Asp) c.185A>T c.1062A>T (p.Glu354Asp) c.1023A>T (p.Glu341Asp) c.1326A>T (p.Glu442Asp) c.1173A>T (p.Glu391Asp) | gnomAD v4 |
| 8 | g.143728456T>C | CA463519687 | FAM83H | c.1005A>G (p.Glu335=) c.1608A>G (p.Glu536=) c.185A>G c.1062A>G (p.Glu354=) c.1023A>G (p.Glu341=) c.1326A>G (p.Glu442=) c.1173A>G (p.Glu391=) | dbSNP gnomAD v4 |
| 8 | g.143728456T>G | CA372468886 | FAM83H | c.1005A>C (p.Glu335Asp) c.1608A>C (p.Glu536Asp) c.185A>C c.1062A>C (p.Glu354Asp) c.1023A>C (p.Glu341Asp) c.1326A>C (p.Glu442Asp) c.1173A>C (p.Glu391Asp) | |
| 8 | g.143728456T= | CA1825940783 | FAM83H | c.1005A= (p.Glu335=) c.1608A= (p.Glu536=) c.185A= c.1062A= (p.Glu354=) c.1023A= (p.Glu341=) c.1326A= (p.Glu442=) c.1173A= (p.Glu391=) | |
| 8 | g.143728457T>A | CA372468888 | FAM83H | c.1004A>T (p.Glu335Val) c.1607A>T (p.Glu536Val) c.184A>T c.1061A>T (p.Glu354Val) c.1022A>T (p.Glu341Val) c.1325A>T (p.Glu442Val) c.1172A>T (p.Glu391Val) | |
| 8 | g.143728457T>C | CA372468889 | FAM83H | c.1004A>G (p.Glu335Gly) c.1607A>G (p.Glu536Gly) c.184A>G c.1061A>G (p.Glu354Gly) c.1022A>G (p.Glu341Gly) c.1325A>G (p.Glu442Gly) c.1172A>G (p.Glu391Gly) | |
| 8 | g.143728457T>G | CA372468891 | FAM83H | c.1004A>C (p.Glu335Ala) c.1607A>C (p.Glu536Ala) c.184A>C c.1061A>C (p.Glu354Ala) c.1022A>C (p.Glu341Ala) c.1325A>C (p.Glu442Ala) c.1172A>C (p.Glu391Ala) | |
| 8 | g.143728458C>A | CA372468892 | FAM83H | c.1003G>T (p.Glu335Ter) c.1606G>T (p.Glu536Ter) c.183G>T c.1060G>T (p.Glu354Ter) c.1021G>T (p.Glu341Ter) c.1324G>T (p.Glu442Ter) c.1171G>T (p.Glu391Ter) | gnomAD v4 |
| 8 | g.143728458C= | CA1825940784 | FAM83H | c.1003G= (p.Glu335=) c.1606G= (p.Glu536=) c.183G= c.1060G= (p.Glu354=) c.1021G= (p.Glu341=) c.1324G= (p.Glu442=) c.1171G= (p.Glu391=) | |
| 8 | g.143728458C>G | CA372468893 | FAM83H | c.1003G>C (p.Glu335Gln) c.1606G>C (p.Glu536Gln) c.183G>C c.1060G>C (p.Glu354Gln) c.1021G>C (p.Glu341Gln) c.1324G>C (p.Glu442Gln) c.1171G>C (p.Glu391Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728458C>T | CA372468895 | FAM83H | c.1003G>A (p.Glu335Lys) c.1606G>A (p.Glu536Lys) c.183G>A c.1060G>A (p.Glu354Lys) c.1021G>A (p.Glu341Lys) c.1324G>A (p.Glu442Lys) c.1171G>A (p.Glu391Lys) | gnomAD v4 |
| 8 | g.143728460del | CA2688981175 | FAM83H | c.1003del (p.Glu335LysfsTer?) c.1606del (p.Glu536LysfsTer?) c.183del c.1060del (p.Glu354LysfsTer?) c.1021del (p.Glu341LysfsTer?) c.1324del (p.Glu442LysfsTer?) c.1171del (p.Glu391LysfsTer?) | gnomAD v4 |
| 8 | g.143728459C>A | CA463519688 | FAM83H | c.1002G>T (p.Arg334=) c.1605G>T (p.Arg535=) c.182G>T c.1059G>T (p.Arg353=) c.1020G>T (p.Arg340=) c.1323G>T (p.Arg441=) c.1170G>T (p.Arg390=) | gnomAD v4 |
| 8 | g.143728459C>G | CA463519689 | FAM83H | c.1002G>C (p.Arg334=) c.1605G>C (p.Arg535=) c.182G>C c.1059G>C (p.Arg353=) c.1020G>C (p.Arg340=) c.1323G>C (p.Arg441=) c.1170G>C (p.Arg390=) | |
| 8 | g.143728459C>T | CA463519691 | FAM83H | c.1002G>A (p.Arg334=) c.1605G>A (p.Arg535=) c.182G>A c.1059G>A (p.Arg353=) c.1020G>A (p.Arg340=) c.1323G>A (p.Arg441=) c.1170G>A (p.Arg390=) | gnomAD v4 |
| 8 | g.143728460C>A | CA372468897 | FAM83H | c.1001G>T (p.Arg334Leu) c.1604G>T (p.Arg535Leu) c.181G>T c.1058G>T (p.Arg353Leu) c.1019G>T (p.Arg340Leu) c.1322G>T (p.Arg441Leu) c.1169G>T (p.Arg390Leu) | gnomAD v4 COSMIC |
| 8 | g.143728460C= | CA1825940785 | FAM83H | c.1001G= (p.Arg334=) c.1604G= (p.Arg535=) c.181G= c.1058G= (p.Arg353=) c.1019G= (p.Arg340=) c.1322G= (p.Arg441=) c.1169G= (p.Arg390=) | |
| 8 | g.143728460C>G | CA372468898 | FAM83H | c.1001G>C (p.Arg334Pro) c.1604G>C (p.Arg535Pro) c.181G>C c.1058G>C (p.Arg353Pro) c.1019G>C (p.Arg340Pro) c.1322G>C (p.Arg441Pro) c.1169G>C (p.Arg390Pro) | gnomAD v4 |
| 8 | g.143728460C>T | CA4917538 | FAM83H | c.1001G>A (p.Arg334Gln) c.1604G>A (p.Arg535Gln) c.181G>A c.1058G>A (p.Arg353Gln) c.1019G>A (p.Arg340Gln) c.1322G>A (p.Arg441Gln) c.1169G>A (p.Arg390Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728461G>A | CA372468901 | FAM83H | c.1000C>T (p.Arg334Trp) c.1603C>T (p.Arg535Trp) c.180C>T c.1057C>T (p.Arg353Trp) c.1018C>T (p.Arg340Trp) c.1321C>T (p.Arg441Trp) c.1168C>T (p.Arg390Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728461G>C | CA372468903 | FAM83H | c.1000C>G (p.Arg334Gly) c.1603C>G (p.Arg535Gly) c.180C>G c.1057C>G (p.Arg353Gly) c.1018C>G (p.Arg340Gly) c.1321C>G (p.Arg441Gly) c.1168C>G (p.Arg390Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728461G= | CA1825940786 | FAM83H | c.1000C= (p.Arg334=) c.1603C= (p.Arg535=) c.180C= c.1057C= (p.Arg353=) c.1018C= (p.Arg340=) c.1321C= (p.Arg441=) c.1168C= (p.Arg390=) | |
| 8 | g.143728461G>T | CA463519692 | FAM83H | c.1000C>A (p.Arg334=) c.1603C>A (p.Arg535=) c.180C>A c.1057C>A (p.Arg353=) c.1018C>A (p.Arg340=) c.1321C>A (p.Arg441=) c.1168C>A (p.Arg390=) | gnomAD v4 |
| 8 | g.143728464del | CA2688981187 | FAM83H | c.1000del (p.Arg334GlyfsTer?) c.1603del (p.Arg535GlyfsTer?) c.180del c.1057del (p.Arg353GlyfsTer?) c.1018del (p.Arg340GlyfsTer?) c.1321del (p.Arg441GlyfsTer?) c.1168del (p.Arg390GlyfsTer?) | dbSNP gnomAD v4 |
| 8 | g.143728462G>A | CA463519694 | FAM83H | c.999C>T (p.Pro333=) c.1602C>T (p.Pro534=) c.179C>T c.1056C>T (p.Pro352=) c.1017C>T (p.Pro339=) c.1320C>T (p.Pro440=) c.1167C>T (p.Pro389=) | gnomAD v4 |
| 8 | g.143728462G>C | CA463519696 | FAM83H | c.999C>G (p.Pro333=) c.1602C>G (p.Pro534=) c.179C>G c.1056C>G (p.Pro352=) c.1017C>G (p.Pro339=) c.1320C>G (p.Pro440=) c.1167C>G (p.Pro389=) | |
| 8 | g.143728462G>T | CA463519698 | FAM83H | c.999C>A (p.Pro333=) c.1602C>A (p.Pro534=) c.179C>A c.1056C>A (p.Pro352=) c.1017C>A (p.Pro339=) c.1320C>A (p.Pro440=) c.1167C>A (p.Pro389=) | gnomAD v4 |
| 8 | g.143728463G>A | CA372468907 | FAM83H | c.998C>T (p.Pro333Leu) c.1601C>T (p.Pro534Leu) c.178C>T c.1055C>T (p.Pro352Leu) c.1016C>T (p.Pro339Leu) c.1319C>T (p.Pro440Leu) c.1166C>T (p.Pro389Leu) | gnomAD v4 |
| 8 | g.143728463G>C | CA372468904 | FAM83H | c.998C>G (p.Pro333Arg) c.1601C>G (p.Pro534Arg) c.178C>G c.1055C>G (p.Pro352Arg) c.1016C>G (p.Pro339Arg) c.1319C>G (p.Pro440Arg) c.1166C>G (p.Pro389Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728463G= | CA1825940787 | FAM83H | c.998C= (p.Pro333=) c.1601C= (p.Pro534=) c.178C= c.1055C= (p.Pro352=) c.1016C= (p.Pro339=) c.1319C= (p.Pro440=) c.1166C= (p.Pro389=) | |
| 8 | g.143728463G>T | CA372468905 | FAM83H | c.998C>A (p.Pro333His) c.1601C>A (p.Pro534His) c.178C>A c.1055C>A (p.Pro352His) c.1016C>A (p.Pro339His) c.1319C>A (p.Pro440His) c.1166C>A (p.Pro389His) | gnomAD v4 |
| 8 | g.143728464G>A | CA372468909 | FAM83H | c.997C>T (p.Pro333Ser) c.1600C>T (p.Pro534Ser) c.177C>T c.1054C>T (p.Pro352Ser) c.1015C>T (p.Pro339Ser) c.1318C>T (p.Pro440Ser) c.1165C>T (p.Pro389Ser) | gnomAD v4 |
| 8 | g.143728464G>C | CA372468910 | FAM83H | c.997C>G (p.Pro333Ala) c.1600C>G (p.Pro534Ala) c.177C>G c.1054C>G (p.Pro352Ala) c.1015C>G (p.Pro339Ala) c.1318C>G (p.Pro440Ala) c.1165C>G (p.Pro389Ala) | |
| 8 | g.143728464G>T | CA372468912 | FAM83H | c.997C>A (p.Pro333Thr) c.1600C>A (p.Pro534Thr) c.177C>A c.1054C>A (p.Pro352Thr) c.1015C>A (p.Pro339Thr) c.1318C>A (p.Pro440Thr) c.1165C>A (p.Pro389Thr) | gnomAD v4 |
| 8 | g.143728465T>A | CA463519700 | FAM83H | c.996A>T (p.Pro332=) c.1599A>T (p.Pro533=) c.176A>T c.1053A>T (p.Pro351=) c.1014A>T (p.Pro338=) c.1317A>T (p.Pro439=) c.1164A>T (p.Pro388=) | |
| 8 | g.143728465T>C | CA463519701 | FAM83H | c.996A>G (p.Pro332=) c.1599A>G (p.Pro533=) c.176A>G c.1053A>G (p.Pro351=) c.1014A>G (p.Pro338=) c.1317A>G (p.Pro439=) c.1164A>G (p.Pro388=) | |
| 8 | g.143728465T>G | CA463519702 | FAM83H | c.996A>C (p.Pro332=) c.1599A>C (p.Pro533=) c.176A>C c.1053A>C (p.Pro351=) c.1014A>C (p.Pro338=) c.1317A>C (p.Pro439=) c.1164A>C (p.Pro388=) | |
| 8 | g.143728466G>A | CA372468913 | FAM83H | c.995C>T (p.Pro332Leu) c.1598C>T (p.Pro533Leu) c.175C>T c.1052C>T (p.Pro351Leu) c.1013C>T (p.Pro338Leu) c.1316C>T (p.Pro439Leu) c.1163C>T (p.Pro388Leu) | gnomAD v4 |
| 8 | g.143728466G>C | CA372468915 | FAM83H | c.995C>G (p.Pro332Arg) c.1598C>G (p.Pro533Arg) c.175C>G c.1052C>G (p.Pro351Arg) c.1013C>G (p.Pro338Arg) c.1316C>G (p.Pro439Arg) c.1163C>G (p.Pro388Arg) | |
| 8 | g.143728466G>T | CA372468917 | FAM83H | c.995C>A (p.Pro332Gln) c.1598C>A (p.Pro533Gln) c.175C>A c.1052C>A (p.Pro351Gln) c.1013C>A (p.Pro338Gln) c.1316C>A (p.Pro439Gln) c.1163C>A (p.Pro388Gln) | gnomAD v4 |
| 8 | g.143728467G>A | CA372468918 | FAM83H | c.994C>T (p.Pro332Ser) c.1597C>T (p.Pro533Ser) c.174C>T c.1051C>T (p.Pro351Ser) c.1012C>T (p.Pro338Ser) c.1315C>T (p.Pro439Ser) c.1162C>T (p.Pro388Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728467G>C | CA372468920 | FAM83H | c.994C>G (p.Pro332Ala) c.1597C>G (p.Pro533Ala) c.174C>G c.1051C>G (p.Pro351Ala) c.1012C>G (p.Pro338Ala) c.1315C>G (p.Pro439Ala) c.1162C>G (p.Pro388Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728467G= | CA1825940788 | FAM83H | c.994C= (p.Pro332=) c.1597C= (p.Pro533=) c.174C= c.1051C= (p.Pro351=) c.1012C= (p.Pro338=) c.1315C= (p.Pro439=) c.1162C= (p.Pro388=) | |
| 8 | g.143728467G>T | CA372468921 | FAM83H | c.994C>A (p.Pro332Thr) c.1597C>A (p.Pro533Thr) c.174C>A c.1051C>A (p.Pro351Thr) c.1012C>A (p.Pro338Thr) c.1315C>A (p.Pro439Thr) c.1162C>A (p.Pro388Thr) | gnomAD v4 |
| 8 | g.143728468C>A | CA463519705 | FAM83H | c.993G>T (p.Pro331=) c.1596G>T (p.Pro532=) c.173G>T c.1050G>T (p.Pro350=) c.1011G>T (p.Pro337=) c.1314G>T (p.Pro438=) c.1161G>T (p.Pro387=) | gnomAD v4 |
| 8 | g.143728468C>G | CA463519707 | FAM83H | c.993G>C (p.Pro331=) c.1596G>C (p.Pro532=) c.173G>C c.1050G>C (p.Pro350=) c.1011G>C (p.Pro337=) c.1314G>C (p.Pro438=) c.1161G>C (p.Pro387=) | gnomAD v4 |
| 8 | g.143728468C>T | CA463519710 | FAM83H | c.993G>A (p.Pro331=) c.1596G>A (p.Pro532=) c.173G>A c.1050G>A (p.Pro350=) c.1011G>A (p.Pro337=) c.1314G>A (p.Pro438=) c.1161G>A (p.Pro387=) | gnomAD v4 |
| 8 | g.143728469G>A | CA372468922 | FAM83H | c.992C>T (p.Pro331Leu) c.1595C>T (p.Pro532Leu) c.172C>T c.1049C>T (p.Pro350Leu) c.1010C>T (p.Pro337Leu) c.1313C>T (p.Pro438Leu) c.1160C>T (p.Pro387Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728469G>C | CA372468923 | FAM83H | c.992C>G (p.Pro331Arg) c.1595C>G (p.Pro532Arg) c.172C>G c.1049C>G (p.Pro350Arg) c.1010C>G (p.Pro337Arg) c.1313C>G (p.Pro438Arg) c.1160C>G (p.Pro387Arg) | |
| 8 | g.143728469G= | CA1825940789 | FAM83H | c.992C= (p.Pro331=) c.1595C= (p.Pro532=) c.172C= c.1049C= (p.Pro350=) c.1010C= (p.Pro337=) c.1313C= (p.Pro438=) c.1160C= (p.Pro387=) | |
| 8 | g.143728469G>T | CA372468924 | FAM83H | c.992C>A (p.Pro331Gln) c.1595C>A (p.Pro532Gln) c.172C>A c.1049C>A (p.Pro350Gln) c.1010C>A (p.Pro337Gln) c.1313C>A (p.Pro438Gln) c.1160C>A (p.Pro387Gln) | gnomAD v4 |
| 8 | g.143728470G>A | CA372468926 | FAM83H | c.991C>T (p.Pro331Ser) c.1594C>T (p.Pro532Ser) c.171C>T c.1048C>T (p.Pro350Ser) c.1009C>T (p.Pro337Ser) c.1312C>T (p.Pro438Ser) c.1159C>T (p.Pro387Ser) | gnomAD v4 |
| 8 | g.143728470G>C | CA372468927 | FAM83H | c.991C>G (p.Pro331Ala) c.1594C>G (p.Pro532Ala) c.171C>G c.1048C>G (p.Pro350Ala) c.1009C>G (p.Pro337Ala) c.1312C>G (p.Pro438Ala) c.1159C>G (p.Pro387Ala) | |
| 8 | g.143728470G>T | CA372468925 | FAM83H | c.991C>A (p.Pro331Thr) c.1594C>A (p.Pro532Thr) c.171C>A c.1048C>A (p.Pro350Thr) c.1009C>A (p.Pro337Thr) c.1312C>A (p.Pro438Thr) c.1159C>A (p.Pro387Thr) | gnomAD v4 |
| 8 | g.143728471G>A | CA463519716 | FAM83H | c.990C>T (p.Phe330=) c.1593C>T (p.Phe531=) c.170C>T c.1047C>T (p.Phe349=) c.1008C>T (p.Phe336=) c.1311C>T (p.Phe437=) c.1158C>T (p.Phe386=) | dbSNP gnomAD v4 |
| 8 | g.143728471G>C | CA372468929 | FAM83H | c.990C>G (p.Phe330Leu) c.1593C>G (p.Phe531Leu) c.170C>G c.1047C>G (p.Phe349Leu) c.1008C>G (p.Phe336Leu) c.1311C>G (p.Phe437Leu) c.1158C>G (p.Phe386Leu) | dbSNP gnomAD v4 |
| 8 | g.143728471G= | CA1825940790 | FAM83H | c.990C= (p.Phe330=) c.1593C= (p.Phe531=) c.170C= c.1047C= (p.Phe349=) c.1008C= (p.Phe336=) c.1311C= (p.Phe437=) c.1158C= (p.Phe386=) | |
| 8 | g.143728471G>T | CA372468928 | FAM83H | c.990C>A (p.Phe330Leu) c.1593C>A (p.Phe531Leu) c.170C>A c.1047C>A (p.Phe349Leu) c.1008C>A (p.Phe336Leu) c.1311C>A (p.Phe437Leu) c.1158C>A (p.Phe386Leu) | gnomAD v4 |
| 8 | g.143728472A>C | CA372468931 | FAM83H | c.989T>G (p.Phe330Cys) c.1592T>G (p.Phe531Cys) c.169T>G c.1046T>G (p.Phe349Cys) c.1007T>G (p.Phe336Cys) c.1310T>G (p.Phe437Cys) c.1157T>G (p.Phe386Cys) | |
| 8 | g.143728472A>G | CA372468930 | FAM83H | c.989T>C (p.Phe330Ser) c.1592T>C (p.Phe531Ser) c.169T>C c.1046T>C (p.Phe349Ser) c.1007T>C (p.Phe336Ser) c.1310T>C (p.Phe437Ser) c.1157T>C (p.Phe386Ser) | gnomAD v4 |
| 8 | g.143728472A>T | CA372468932 | FAM83H | c.989T>A (p.Phe330Tyr) c.1592T>A (p.Phe531Tyr) c.169T>A c.1046T>A (p.Phe349Tyr) c.1007T>A (p.Phe336Tyr) c.1310T>A (p.Phe437Tyr) c.1157T>A (p.Phe386Tyr) | |
| 8 | g.143728473A>C | CA372468933 | FAM83H | c.988T>G (p.Phe330Val) c.1591T>G (p.Phe531Val) c.168T>G c.1045T>G (p.Phe349Val) c.1006T>G (p.Phe336Val) c.1309T>G (p.Phe437Val) c.1156T>G (p.Phe386Val) | |
| 8 | g.143728473A>G | CA372468934 | FAM83H | c.988T>C (p.Phe330Leu) c.1591T>C (p.Phe531Leu) c.168T>C c.1045T>C (p.Phe349Leu) c.1006T>C (p.Phe336Leu) c.1309T>C (p.Phe437Leu) c.1156T>C (p.Phe386Leu) | |
| 8 | g.143728473A>T | CA372468935 | FAM83H | c.988T>A (p.Phe330Ile) c.1591T>A (p.Phe531Ile) c.168T>A c.1045T>A (p.Phe349Ile) c.1006T>A (p.Phe336Ile) c.1309T>A (p.Phe437Ile) c.1156T>A (p.Phe386Ile) | gnomAD v4 |
| 8 | g.143728474C>A | CA463519721 | FAM83H | c.987G>T (p.Leu329=) c.1590G>T (p.Leu530=) c.167G>T c.1044G>T (p.Leu348=) c.1005G>T (p.Leu335=) c.1308G>T (p.Leu436=) c.1155G>T (p.Leu385=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728474C= | CA1825940791 | FAM83H | c.987G= (p.Leu329=) c.1590G= (p.Leu530=) c.167G= c.1044G= (p.Leu348=) c.1005G= (p.Leu335=) c.1308G= (p.Leu436=) c.1155G= (p.Leu385=) | |
| 8 | g.143728474C>G | CA463519725 | FAM83H | c.987G>C (p.Leu329=) c.1590G>C (p.Leu530=) c.167G>C c.1044G>C (p.Leu348=) c.1005G>C (p.Leu335=) c.1308G>C (p.Leu436=) c.1155G>C (p.Leu385=) | |
| 8 | g.143728474C>T | CA463519726 | FAM83H | c.987G>A (p.Leu329=) c.1590G>A (p.Leu530=) c.167G>A c.1044G>A (p.Leu348=) c.1005G>A (p.Leu335=) c.1308G>A (p.Leu436=) c.1155G>A (p.Leu385=) | gnomAD v4 |
| 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=) |