| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143728266_143728331del | CA1120207142 | FAM83H | c.1136_1201del (p.Arg379_Arg400del) c.1739_1804del (p.Arg580_Arg601del) c.316_381del c.1193_1258del (p.Arg398_Arg419del) c.1154_1219del (p.Arg385_Arg406del) c.1457_1522del (p.Arg486_Arg507del) c.1304_1369del (p.Arg435_Arg456del) | gnomAD v3 gnomAD v4 |
| 8 | g.143728289_143728306dup | CA848794734 | FAM83H | c.1156_1173dup (p.Ala391_Gly392insProAlaGlyGluLeuAla) c.1759_1776dup (p.Ala592_Gly593insProAlaGlyGluLeuAla) c.336_353dup c.1213_1230dup (p.Ala410_Gly411insProAlaGlyGluLeuAla) c.1174_1191dup (p.Ala397_Gly398insProAlaGlyGluLeuAla) c.1477_1494dup (p.Ala498_Gly499insProAlaGlyGluLeuAla) c.1324_1341dup (p.Ala447_Gly448insProAlaGlyGluLeuAla) | dbSNP gnomAD v4 |
| 8 | g.143728299del | CA2688980815 | FAM83H | c.1165del (p.Glu389SerfsTer?) c.1768del (p.Glu590SerfsTer?) c.345del c.1222del (p.Glu408SerfsTer?) c.1183del (p.Glu395SerfsTer?) c.1486del (p.Glu496SerfsTer?) c.1333del (p.Glu445SerfsTer?) | gnomAD v4 |
| 8 | g.143728297C>A | CA463520061 | FAM83H | c.1164G>T (p.Gly388=) c.1767G>T (p.Gly589=) c.344G>T c.1221G>T (p.Gly407=) c.1182G>T (p.Gly394=) c.1485G>T (p.Gly495=) c.1332G>T (p.Gly444=) | dbSNP gnomAD v4 |
| 8 | g.143728297C= | CA1825940679 | FAM83H | c.1164G= (p.Gly388=) c.1767G= (p.Gly589=) c.344G= c.1221G= (p.Gly407=) c.1182G= (p.Gly394=) c.1485G= (p.Gly495=) c.1332G= (p.Gly444=) | |
| 8 | g.143728297C>G | CA463520063 | FAM83H | c.1164G>C (p.Gly388=) c.1767G>C (p.Gly589=) c.344G>C c.1221G>C (p.Gly407=) c.1182G>C (p.Gly394=) c.1485G>C (p.Gly495=) c.1332G>C (p.Gly444=) | |
| 8 | g.143728297C>T | CA463520069 | FAM83H | c.1164G>A (p.Gly388=) c.1767G>A (p.Gly589=) c.344G>A c.1221G>A (p.Gly407=) c.1182G>A (p.Gly394=) c.1485G>A (p.Gly495=) c.1332G>A (p.Gly444=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728298C>A | CA372468338 | FAM83H | c.1163G>T (p.Gly388Val) c.1766G>T (p.Gly589Val) c.343G>T c.1220G>T (p.Gly407Val) c.1181G>T (p.Gly394Val) c.1484G>T (p.Gly495Val) c.1331G>T (p.Gly444Val) | gnomAD v4 |
| 8 | g.143728298C>G | CA372468339 | FAM83H | c.1163G>C (p.Gly388Ala) c.1766G>C (p.Gly589Ala) c.343G>C c.1220G>C (p.Gly407Ala) c.1181G>C (p.Gly394Ala) c.1484G>C (p.Gly495Ala) c.1331G>C (p.Gly444Ala) | |
| 8 | g.143728298C>T | CA372468340 | FAM83H | c.1163G>A (p.Gly388Glu) c.1766G>A (p.Gly589Glu) c.343G>A c.1220G>A (p.Gly407Glu) c.1181G>A (p.Gly394Glu) c.1484G>A (p.Gly495Glu) c.1331G>A (p.Gly444Glu) | |
| 8 | g.143728298_143728301delinsCCAG | CA1825940680 | FAM83H | c.1160_1163delinsCTGG (p.Ala387=) c.1763_1766delinsCTGG (p.Ala588=) c.340_343delinsCTGG c.1217_1220delinsCTGG (p.Ala406=) c.1178_1181delinsCTGG (p.Ala393=) c.1481_1484delinsCTGG (p.Ala494=) c.1328_1331delinsCTGG (p.Ala443=) | |
| 8 | g.143728299C>A | CA372468346 | FAM83H | c.1162G>T (p.Gly388Trp) c.1765G>T (p.Gly589Trp) c.342G>T c.1219G>T (p.Gly407Trp) c.1180G>T (p.Gly394Trp) c.1483G>T (p.Gly495Trp) c.1330G>T (p.Gly444Trp) | gnomAD v4 |
| 8 | g.143728299C>G | CA372468345 | FAM83H | c.1162G>C (p.Gly388Arg) c.1765G>C (p.Gly589Arg) c.342G>C c.1219G>C (p.Gly407Arg) c.1180G>C (p.Gly394Arg) c.1483G>C (p.Gly495Arg) c.1330G>C (p.Gly444Arg) | |
| 8 | g.143728299C>T | CA372468342 | FAM83H | c.1162G>A (p.Gly388Arg) c.1765G>A (p.Gly589Arg) c.342G>A c.1219G>A (p.Gly407Arg) c.1180G>A (p.Gly394Arg) c.1483G>A (p.Gly495Arg) c.1330G>A (p.Gly444Arg) | |
| 8 | g.143728300_143728302del | CA585729886 | FAM83H | c.1160_1162del (p.Ala387del) c.1763_1765del (p.Ala588del) c.340_342del c.1217_1219del (p.Ala406del) c.1178_1180del (p.Ala393del) c.1481_1483del (p.Ala494del) c.1328_1330del (p.Ala443del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728300del | CA2506029743 | FAM83H | c.1161del (p.Glu389SerfsTer?) c.1764del (p.Glu590SerfsTer?) c.341del c.1218del (p.Glu408SerfsTer?) c.1179del (p.Glu395SerfsTer?) c.1482del (p.Glu496SerfsTer?) c.1329del (p.Glu445SerfsTer?) | |
| 8 | g.143728300A= | CA1825940681 | FAM83H | c.1161T= (p.Ala387=) c.1764T= (p.Ala588=) c.341T= c.1218T= (p.Ala406=) c.1179T= (p.Ala393=) c.1482T= (p.Ala494=) c.1329T= (p.Ala443=) | |
| 8 | g.143728300A>C | CA463520074 | FAM83H | c.1161T>G (p.Ala387=) c.1764T>G (p.Ala588=) c.341T>G c.1218T>G (p.Ala406=) c.1179T>G (p.Ala393=) c.1482T>G (p.Ala494=) c.1329T>G (p.Ala443=) | dbSNP |
| 8 | g.143728300A>G | CA463520075 | FAM83H | c.1161T>C (p.Ala387=) c.1764T>C (p.Ala588=) c.341T>C c.1218T>C (p.Ala406=) c.1179T>C (p.Ala393=) c.1482T>C (p.Ala494=) c.1329T>C (p.Ala443=) | gnomAD v4 |
| 8 | g.143728300A>T | CA463520076 | FAM83H | c.1161T>A (p.Ala387=) c.1764T>A (p.Ala588=) c.341T>A c.1218T>A (p.Ala406=) c.1179T>A (p.Ala393=) c.1482T>A (p.Ala494=) c.1329T>A (p.Ala443=) | |
| 8 | g.143728301G>A | CA372468348 | FAM83H | c.1160C>T (p.Ala387Val) c.1763C>T (p.Ala588Val) c.340C>T c.1217C>T (p.Ala406Val) c.1178C>T (p.Ala393Val) c.1481C>T (p.Ala494Val) c.1328C>T (p.Ala443Val) | gnomAD v4 |
| 8 | g.143728301G>C | CA372468350 | FAM83H | c.1160C>G (p.Ala387Gly) c.1763C>G (p.Ala588Gly) c.340C>G c.1217C>G (p.Ala406Gly) c.1178C>G (p.Ala393Gly) c.1481C>G (p.Ala494Gly) c.1328C>G (p.Ala443Gly) | |
| 8 | g.143728301G>T | CA372468352 | FAM83H | c.1160C>A (p.Ala387Asp) c.1763C>A (p.Ala588Asp) c.340C>A c.1217C>A (p.Ala406Asp) c.1178C>A (p.Ala393Asp) c.1481C>A (p.Ala494Asp) c.1328C>A (p.Ala443Asp) | gnomAD v4 |
| 8 | g.143728302C>A | CA372468354 | FAM83H | c.1159G>T (p.Ala387Ser) c.1762G>T (p.Ala588Ser) c.339G>T c.1216G>T (p.Ala406Ser) c.1177G>T (p.Ala393Ser) c.1480G>T (p.Ala494Ser) c.1327G>T (p.Ala443Ser) | gnomAD v4 |
| 8 | g.143728302C= | CA1825940682 | FAM83H | c.1159G= (p.Ala387=) c.1762G= (p.Ala588=) c.339G= c.1216G= (p.Ala406=) c.1177G= (p.Ala393=) c.1480G= (p.Ala494=) c.1327G= (p.Ala443=) | |
| 8 | g.143728302C>G | CA372468356 | FAM83H | c.1159G>C (p.Ala387Pro) c.1762G>C (p.Ala588Pro) c.339G>C c.1216G>C (p.Ala406Pro) c.1177G>C (p.Ala393Pro) c.1480G>C (p.Ala494Pro) c.1327G>C (p.Ala443Pro) | gnomAD v4 |
| 8 | g.143728302C>T | CA372468357 | FAM83H | c.1159G>A (p.Ala387Thr) c.1762G>A (p.Ala588Thr) c.339G>A c.1216G>A (p.Ala406Thr) c.1177G>A (p.Ala393Thr) c.1480G>A (p.Ala494Thr) c.1327G>A (p.Ala443Thr) | dbSNP gnomAD v4 |
| 8 | g.143728308_143728312del | CA2688980823 | FAM83H | c.1155_1159del (p.Pro386TrpfsTer?) c.1758_1762del (p.Pro587TrpfsTer?) c.335_339del c.1212_1216del (p.Pro405TrpfsTer?) c.1173_1177del (p.Pro392TrpfsTer?) c.1476_1480del (p.Pro493TrpfsTer?) c.1323_1327del (p.Pro442TrpfsTer?) | gnomAD v4 |
| 8 | g.143728303C>A | CA463520082 | FAM83H | c.1158G>T (p.Pro386=) c.1761G>T (p.Pro587=) c.338G>T c.1215G>T (p.Pro405=) c.1176G>T (p.Pro392=) c.1479G>T (p.Pro493=) c.1326G>T (p.Pro442=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728303C= | CA1825940683 | FAM83H | c.1158G= (p.Pro386=) c.1761G= (p.Pro587=) c.338G= c.1215G= (p.Pro405=) c.1176G= (p.Pro392=) c.1479G= (p.Pro493=) c.1326G= (p.Pro442=) | |
| 8 | g.143728303C>G | CA463520083 | FAM83H | c.1158G>C (p.Pro386=) c.1761G>C (p.Pro587=) c.338G>C c.1215G>C (p.Pro405=) c.1176G>C (p.Pro392=) c.1479G>C (p.Pro493=) c.1326G>C (p.Pro442=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728303C>T | CA463520084 | FAM83H | c.1158G>A (p.Pro386=) c.1761G>A (p.Pro587=) c.338G>A c.1215G>A (p.Pro405=) c.1176G>A (p.Pro392=) c.1479G>A (p.Pro493=) c.1326G>A (p.Pro442=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728303_143728304insTG | CA2555999901 | FAM83H | c.1157_1158insCA (p.Ala387ArgfsTer?) c.1760_1761insCA (p.Ala588ArgfsTer?) c.337_338insCA c.1214_1215insCA (p.Ala406ArgfsTer?) c.1175_1176insCA (p.Ala393ArgfsTer?) c.1478_1479insCA (p.Ala494ArgfsTer?) c.1325_1326insCA (p.Ala443ArgfsTer?) | |
| 8 | g.143728304G>A | CA372468361 | FAM83H | c.1157C>T (p.Pro386Leu) c.1760C>T (p.Pro587Leu) c.337C>T c.1214C>T (p.Pro405Leu) c.1175C>T (p.Pro392Leu) c.1478C>T (p.Pro493Leu) c.1325C>T (p.Pro442Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728304G>C | CA4917513 | FAM83H | c.1157C>G (p.Pro386Arg) c.1760C>G (p.Pro587Arg) c.337C>G c.1214C>G (p.Pro405Arg) c.1175C>G (p.Pro392Arg) c.1478C>G (p.Pro493Arg) c.1325C>G (p.Pro442Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728304G= | CA1825940684 | FAM83H | c.1157C= (p.Pro386=) c.1760C= (p.Pro587=) c.337C= c.1214C= (p.Pro405=) c.1175C= (p.Pro392=) c.1478C= (p.Pro493=) c.1325C= (p.Pro442=) | |
| 8 | g.143728304G>T | CA372468360 | FAM83H | c.1157C>A (p.Pro386Gln) c.1760C>A (p.Pro587Gln) c.337C>A c.1214C>A (p.Pro405Gln) c.1175C>A (p.Pro392Gln) c.1478C>A (p.Pro493Gln) c.1325C>A (p.Pro442Gln) | dbSNP gnomAD v4 |
| 8 | g.143728305G>A | CA372468363 | FAM83H | c.1156C>T (p.Pro386Ser) c.1759C>T (p.Pro587Ser) c.336C>T c.1213C>T (p.Pro405Ser) c.1174C>T (p.Pro392Ser) c.1477C>T (p.Pro493Ser) c.1324C>T (p.Pro442Ser) | dbSNP gnomAD v4 |
| 8 | g.143728305G>C | CA372468365 | FAM83H | c.1156C>G (p.Pro386Ala) c.1759C>G (p.Pro587Ala) c.336C>G c.1213C>G (p.Pro405Ala) c.1174C>G (p.Pro392Ala) c.1477C>G (p.Pro493Ala) c.1324C>G (p.Pro442Ala) | dbSNP |
| 8 | g.143728305G= | CA1825940685 | FAM83H | c.1156C= (p.Pro386=) c.1759C= (p.Pro587=) c.336C= c.1213C= (p.Pro405=) c.1174C= (p.Pro392=) c.1477C= (p.Pro493=) c.1324C= (p.Pro442=) | |
| 8 | g.143728305G>T | CA372468366 | FAM83H | c.1156C>A (p.Pro386Thr) c.1759C>A (p.Pro587Thr) c.336C>A c.1213C>A (p.Pro405Thr) c.1174C>A (p.Pro392Thr) c.1477C>A (p.Pro493Thr) c.1324C>A (p.Pro442Thr) | gnomAD v4 |
| 8 | g.143728306C>A | CA463520091 | FAM83H | c.1155G>T (p.Gly385=) c.1758G>T (p.Gly586=) c.335G>T c.1212G>T (p.Gly404=) c.1173G>T (p.Gly391=) c.1476G>T (p.Gly492=) c.1323G>T (p.Gly441=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728306C= | CA1825940686 | FAM83H | c.1155G= (p.Gly385=) c.1758G= (p.Gly586=) c.335G= c.1212G= (p.Gly404=) c.1173G= (p.Gly391=) c.1476G= (p.Gly492=) c.1323G= (p.Gly441=) | |
| 8 | g.143728306C>G | CA463520093 | FAM83H | c.1155G>C (p.Gly385=) c.1758G>C (p.Gly586=) c.335G>C c.1212G>C (p.Gly404=) c.1173G>C (p.Gly391=) c.1476G>C (p.Gly492=) c.1323G>C (p.Gly441=) | |
| 8 | g.143728306C>T | CA463520090 | FAM83H | c.1155G>A (p.Gly385=) c.1758G>A (p.Gly586=) c.335G>A c.1212G>A (p.Gly404=) c.1173G>A (p.Gly391=) c.1476G>A (p.Gly492=) c.1323G>A (p.Gly441=) | gnomAD v4 |
| 8 | g.143728307C>A | CA372468368 | FAM83H | c.1154G>T (p.Gly385Val) c.1757G>T (p.Gly586Val) c.334G>T c.1211G>T (p.Gly404Val) c.1172G>T (p.Gly391Val) c.1475G>T (p.Gly492Val) c.1322G>T (p.Gly441Val) | gnomAD v4 |
| 8 | g.143728307C= | CA1825940687 | FAM83H | c.1154G= (p.Gly385=) c.1757G= (p.Gly586=) c.334G= c.1211G= (p.Gly404=) c.1172G= (p.Gly391=) c.1475G= (p.Gly492=) c.1322G= (p.Gly441=) | |
| 8 | g.143728307C>G | CA372468370 | FAM83H | c.1154G>C (p.Gly385Ala) c.1757G>C (p.Gly586Ala) c.334G>C c.1211G>C (p.Gly404Ala) c.1172G>C (p.Gly391Ala) c.1475G>C (p.Gly492Ala) c.1322G>C (p.Gly441Ala) | gnomAD v4 |
| 8 | g.143728307C>T | CA372468371 | FAM83H | c.1154G>A (p.Gly385Glu) c.1757G>A (p.Gly586Glu) c.334G>A c.1211G>A (p.Gly404Glu) c.1172G>A (p.Gly391Glu) c.1475G>A (p.Gly492Glu) c.1322G>A (p.Gly441Glu) | dbSNP |
| 8 | g.143728308C>A | CA372468372 | FAM83H | c.1153G>T (p.Gly385Trp) c.1756G>T (p.Gly586Trp) c.333G>T c.1210G>T (p.Gly404Trp) c.1171G>T (p.Gly391Trp) c.1474G>T (p.Gly492Trp) c.1321G>T (p.Gly441Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728308C= | CA1825940688 | FAM83H | c.1153G= (p.Gly385=) c.1756G= (p.Gly586=) c.333G= c.1210G= (p.Gly404=) c.1171G= (p.Gly391=) c.1474G= (p.Gly492=) c.1321G= (p.Gly441=) | |
| 8 | g.143728308C>G | CA372468373 | FAM83H | c.1153G>C (p.Gly385Arg) c.1756G>C (p.Gly586Arg) c.333G>C c.1210G>C (p.Gly404Arg) c.1171G>C (p.Gly391Arg) c.1474G>C (p.Gly492Arg) c.1321G>C (p.Gly441Arg) | dbSNP gnomAD v4 |
| 8 | g.143728308C>T | CA372468374 | FAM83H | c.1153G>A (p.Gly385Arg) c.1756G>A (p.Gly586Arg) c.333G>A c.1210G>A (p.Gly404Arg) c.1171G>A (p.Gly391Arg) c.1474G>A (p.Gly492Arg) c.1321G>A (p.Gly441Arg) | gnomAD v4 |
| 8 | g.143728315_143728320dup | CA463520098 | FAM83H | c.1148_1153dup (p.Ala384_Gly385insGluAla) c.1751_1756dup (p.Ala585_Gly586insGluAla) c.328_333dup c.1205_1210dup (p.Ala403_Gly404insGluAla) c.1166_1171dup (p.Ala390_Gly391insGluAla) c.1469_1474dup (p.Ala491_Gly492insGluAla) c.1316_1321dup (p.Ala440_Gly441insGluAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728309G>A | CA463520101 | FAM83H | c.1152C>T (p.Ala384=) c.1755C>T (p.Ala585=) c.332C>T c.1209C>T (p.Ala403=) c.1170C>T (p.Ala390=) c.1473C>T (p.Ala491=) c.1320C>T (p.Ala440=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728309G>C | CA4917514 | FAM83H | c.1152C>G (p.Ala384=) c.1755C>G (p.Ala585=) c.332C>G c.1209C>G (p.Ala403=) c.1170C>G (p.Ala390=) c.1473C>G (p.Ala491=) c.1320C>G (p.Ala440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728309G= | CA1825940689 | FAM83H | c.1152C= (p.Ala384=) c.1755C= (p.Ala585=) c.332C= c.1209C= (p.Ala403=) c.1170C= (p.Ala390=) c.1473C= (p.Ala491=) c.1320C= (p.Ala440=) | |
| 8 | g.143728309G>T | CA463520103 | FAM83H | c.1152C>A (p.Ala384=) c.1755C>A (p.Ala585=) c.332C>A c.1209C>A (p.Ala403=) c.1170C>A (p.Ala390=) c.1473C>A (p.Ala491=) c.1320C>A (p.Ala440=) | |
| 8 | g.143728310del | CA2554174542 | FAM83H | c.1152del (p.Pro386ArgfsTer?) c.1755del (p.Pro587ArgfsTer?) c.332del c.1209del (p.Pro405ArgfsTer?) c.1170del (p.Pro392ArgfsTer?) c.1473del (p.Pro493ArgfsTer?) c.1320del (p.Pro442ArgfsTer?) | |
| 8 | g.143728310G>A | CA372468377 | FAM83H | c.1151C>T (p.Ala384Val) c.1754C>T (p.Ala585Val) c.331C>T c.1208C>T (p.Ala403Val) c.1169C>T (p.Ala390Val) c.1472C>T (p.Ala491Val) c.1319C>T (p.Ala440Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728310G>C | CA372468378 | FAM83H | c.1151C>G (p.Ala384Gly) c.1754C>G (p.Ala585Gly) c.331C>G c.1208C>G (p.Ala403Gly) c.1169C>G (p.Ala390Gly) c.1472C>G (p.Ala491Gly) c.1319C>G (p.Ala440Gly) | |
| 8 | g.143728310G= | CA1825940690 | FAM83H | c.1151C= (p.Ala384=) c.1754C= (p.Ala585=) c.331C= c.1208C= (p.Ala403=) c.1169C= (p.Ala390=) c.1472C= (p.Ala491=) c.1319C= (p.Ala440=) | |
| 8 | g.143728310G>T | CA372468380 | FAM83H | c.1151C>A (p.Ala384Asp) c.1754C>A (p.Ala585Asp) c.331C>A c.1208C>A (p.Ala403Asp) c.1169C>A (p.Ala390Asp) c.1472C>A (p.Ala491Asp) c.1319C>A (p.Ala440Asp) | gnomAD v4 |
| 8 | g.143728311C>A | CA372468383 | FAM83H | c.1150G>T (p.Ala384Ser) c.1753G>T (p.Ala585Ser) c.330G>T c.1207G>T (p.Ala403Ser) c.1168G>T (p.Ala390Ser) c.1471G>T (p.Ala491Ser) c.1318G>T (p.Ala440Ser) | gnomAD v4 |
| 8 | g.143728311C>G | CA372468388 | FAM83H | c.1150G>C (p.Ala384Pro) c.1753G>C (p.Ala585Pro) c.330G>C c.1207G>C (p.Ala403Pro) c.1168G>C (p.Ala390Pro) c.1471G>C (p.Ala491Pro) c.1318G>C (p.Ala440Pro) | |
| 8 | g.143728311C>T | CA372468385 | FAM83H | c.1150G>A (p.Ala384Thr) c.1753G>A (p.Ala585Thr) c.330G>A c.1207G>A (p.Ala403Thr) c.1168G>A (p.Ala390Thr) c.1471G>A (p.Ala491Thr) c.1318G>A (p.Ala440Thr) | gnomAD v4 |
| 8 | g.143728312C>A | CA372468390 | FAM83H | c.1149G>T (p.Glu383Asp) c.1752G>T (p.Glu584Asp) c.329G>T c.1206G>T (p.Glu402Asp) c.1167G>T (p.Glu389Asp) c.1470G>T (p.Glu490Asp) c.1317G>T (p.Glu439Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728312C= | CA1825940691 | FAM83H | c.1149G= (p.Glu383=) c.1752G= (p.Glu584=) c.329G= c.1206G= (p.Glu402=) c.1167G= (p.Glu389=) c.1470G= (p.Glu490=) c.1317G= (p.Glu439=) | |
| 8 | g.143728312C>G | CA372468392 | FAM83H | c.1149G>C (p.Glu383Asp) c.1752G>C (p.Glu584Asp) c.329G>C c.1206G>C (p.Glu402Asp) c.1167G>C (p.Glu389Asp) c.1470G>C (p.Glu490Asp) c.1317G>C (p.Glu439Asp) | |
| 8 | g.143728312C>T | CA463520111 | FAM83H | c.1149G>A (p.Glu383=) c.1752G>A (p.Glu584=) c.329G>A c.1206G>A (p.Glu402=) c.1167G>A (p.Glu389=) c.1470G>A (p.Glu490=) c.1317G>A (p.Glu439=) | |
| 8 | g.143728313T>A | CA372468395 | FAM83H | c.1148A>T (p.Glu383Val) c.1751A>T (p.Glu584Val) c.328A>T c.1205A>T (p.Glu402Val) c.1166A>T (p.Glu389Val) c.1469A>T (p.Glu490Val) c.1316A>T (p.Glu439Val) | |
| 8 | g.143728313T>C | CA372468397 | FAM83H | c.1148A>G (p.Glu383Gly) c.1751A>G (p.Glu584Gly) c.328A>G c.1205A>G (p.Glu402Gly) c.1166A>G (p.Glu389Gly) c.1469A>G (p.Glu490Gly) c.1316A>G (p.Glu439Gly) | gnomAD v4 |
| 8 | g.143728313T>G | CA372468398 | FAM83H | c.1148A>C (p.Glu383Ala) c.1751A>C (p.Glu584Ala) c.328A>C c.1205A>C (p.Glu402Ala) c.1166A>C (p.Glu389Ala) c.1469A>C (p.Glu490Ala) c.1316A>C (p.Glu439Ala) | |
| 8 | g.143728314C>A | CA372468400 | FAM83H | c.1147G>T (p.Glu383Ter) c.1750G>T (p.Glu584Ter) c.327G>T c.1204G>T (p.Glu402Ter) c.1165G>T (p.Glu389Ter) c.1468G>T (p.Glu490Ter) c.1315G>T (p.Glu439Ter) | gnomAD v4 |
| 8 | g.143728314C= | CA1825940692 | FAM83H | c.1147G= (p.Glu383=) c.1750G= (p.Glu584=) c.327G= c.1204G= (p.Glu402=) c.1165G= (p.Glu389=) c.1468G= (p.Glu490=) c.1315G= (p.Glu439=) | |
| 8 | g.143728314C>G | CA372468402 | FAM83H | c.1147G>C (p.Glu383Gln) c.1750G>C (p.Glu584Gln) c.327G>C c.1204G>C (p.Glu402Gln) c.1165G>C (p.Glu389Gln) c.1468G>C (p.Glu490Gln) c.1315G>C (p.Glu439Gln) | |
| 8 | g.143728314C>T | CA372468403 | FAM83H | c.1147G>A (p.Glu383Lys) c.1750G>A (p.Glu584Lys) c.327G>A c.1204G>A (p.Glu402Lys) c.1165G>A (p.Glu389Lys) c.1468G>A (p.Glu490Lys) c.1315G>A (p.Glu439Lys) | dbSNP gnomAD v4 COSMIC |
| 8 | g.143728315G>A | CA463520117 | FAM83H | c.1146C>T (p.Ala382=) c.1749C>T (p.Ala583=) c.326C>T c.1203C>T (p.Ala401=) c.1164C>T (p.Ala388=) c.1467C>T (p.Ala489=) c.1314C>T (p.Ala438=) | dbSNP gnomAD v4 |
| 8 | g.143728315G>C | CA463520118 | FAM83H | c.1146C>G (p.Ala382=) c.1749C>G (p.Ala583=) c.326C>G c.1203C>G (p.Ala401=) c.1164C>G (p.Ala388=) c.1467C>G (p.Ala489=) c.1314C>G (p.Ala438=) | |
| 8 | g.143728315G= | CA1825940693 | FAM83H | c.1146C= (p.Ala382=) c.1749C= (p.Ala583=) c.326C= c.1203C= (p.Ala401=) c.1164C= (p.Ala388=) c.1467C= (p.Ala489=) c.1314C= (p.Ala438=) | |
| 8 | g.143728315G>T | CA463520119 | FAM83H | c.1146C>A (p.Ala382=) c.1749C>A (p.Ala583=) c.326C>A c.1203C>A (p.Ala401=) c.1164C>A (p.Ala388=) c.1467C>A (p.Ala489=) c.1314C>A (p.Ala438=) | |
| 8 | g.143728316G>A | CA372468406 | FAM83H | c.1145C>T (p.Ala382Val) c.1748C>T (p.Ala583Val) c.325C>T c.1202C>T (p.Ala401Val) c.1163C>T (p.Ala388Val) c.1466C>T (p.Ala489Val) c.1313C>T (p.Ala438Val) | gnomAD v4 |
| 8 | g.143728316G>C | CA372468407 | FAM83H | c.1145C>G (p.Ala382Gly) c.1748C>G (p.Ala583Gly) c.325C>G c.1202C>G (p.Ala401Gly) c.1163C>G (p.Ala388Gly) c.1466C>G (p.Ala489Gly) c.1313C>G (p.Ala438Gly) | |
| 8 | g.143728316G>T | CA372468408 | FAM83H | c.1145C>A (p.Ala382Asp) c.1748C>A (p.Ala583Asp) c.325C>A c.1202C>A (p.Ala401Asp) c.1163C>A (p.Ala388Asp) c.1466C>A (p.Ala489Asp) c.1313C>A (p.Ala438Asp) | gnomAD v4 |
| 8 | g.143728316_143728318del | CA2511115449 | FAM83H | c.1143_1145del (p.Glu381_Ala382delinsAsp) c.1746_1748del (p.Glu582_Ala583delinsAsp) c.323_325del c.1200_1202del (p.Glu400_Ala401delinsAsp) c.1161_1163del (p.Glu387_Ala388delinsAsp) c.1464_1466del (p.Glu488_Ala489delinsAsp) c.1311_1313del (p.Glu437_Ala438delinsAsp) | |
| 8 | g.143728317C>A | CA372468411 | FAM83H | c.1144G>T (p.Ala382Ser) c.1747G>T (p.Ala583Ser) c.324G>T c.1201G>T (p.Ala401Ser) c.1162G>T (p.Ala388Ser) c.1465G>T (p.Ala489Ser) c.1312G>T (p.Ala438Ser) | gnomAD v4 |
| 8 | g.143728317C= | CA1825940694 | FAM83H | c.1144G= (p.Ala382=) c.1747G= (p.Ala583=) c.324G= c.1201G= (p.Ala401=) c.1162G= (p.Ala388=) c.1465G= (p.Ala489=) c.1312G= (p.Ala438=) | |
| 8 | g.143728317C>G | CA372468412 | FAM83H | c.1144G>C (p.Ala382Pro) c.1747G>C (p.Ala583Pro) c.324G>C c.1201G>C (p.Ala401Pro) c.1162G>C (p.Ala388Pro) c.1465G>C (p.Ala489Pro) c.1312G>C (p.Ala438Pro) | dbSNP |
| 8 | g.143728317C>T | CA372468414 | FAM83H | c.1144G>A (p.Ala382Thr) c.1747G>A (p.Ala583Thr) c.324G>A c.1201G>A (p.Ala401Thr) c.1162G>A (p.Ala388Thr) c.1465G>A (p.Ala489Thr) c.1312G>A (p.Ala438Thr) | |
| 8 | g.143728318C>A | CA372468416 | FAM83H | c.1143G>T (p.Glu381Asp) c.1746G>T (p.Glu582Asp) c.323G>T c.1200G>T (p.Glu400Asp) c.1161G>T (p.Glu387Asp) c.1464G>T (p.Glu488Asp) c.1311G>T (p.Glu437Asp) | gnomAD v4 |
| 8 | g.143728318C>G | CA372468417 | FAM83H | c.1143G>C (p.Glu381Asp) c.1746G>C (p.Glu582Asp) c.323G>C c.1200G>C (p.Glu400Asp) c.1161G>C (p.Glu387Asp) c.1464G>C (p.Glu488Asp) c.1311G>C (p.Glu437Asp) | |
| 8 | g.143728318C>T | CA463519567 | FAM83H | c.1143G>A (p.Glu381=) c.1746G>A (p.Glu582=) c.323G>A c.1200G>A (p.Glu400=) c.1161G>A (p.Glu387=) c.1464G>A (p.Glu488=) c.1311G>A (p.Glu437=) | |
| 8 | g.143728319T>A | CA372468418 | FAM83H | c.1142A>T (p.Glu381Val) c.1745A>T (p.Glu582Val) c.322A>T c.1199A>T (p.Glu400Val) c.1160A>T (p.Glu387Val) c.1463A>T (p.Glu488Val) c.1310A>T (p.Glu437Val) | |
| 8 | g.143728319T>C | CA372468420 | FAM83H | c.1142A>G (p.Glu381Gly) c.1745A>G (p.Glu582Gly) c.322A>G c.1199A>G (p.Glu400Gly) c.1160A>G (p.Glu387Gly) c.1463A>G (p.Glu488Gly) c.1310A>G (p.Glu437Gly) | gnomAD v4 |
| 8 | g.143728319T>G | CA372468422 | FAM83H | c.1142A>C (p.Glu381Ala) c.1745A>C (p.Glu582Ala) c.322A>C c.1199A>C (p.Glu400Ala) c.1160A>C (p.Glu387Ala) c.1463A>C (p.Glu488Ala) c.1310A>C (p.Glu437Ala) | |
| 8 | g.143728320C>A | CA372468424 | FAM83H | c.1141G>T (p.Glu381Ter) c.1744G>T (p.Glu582Ter) c.321G>T c.1198G>T (p.Glu400Ter) c.1159G>T (p.Glu387Ter) c.1462G>T (p.Glu488Ter) c.1309G>T (p.Glu437Ter) | |
| 8 | g.143728320C>G | CA372468426 | FAM83H | c.1141G>C (p.Glu381Gln) c.1744G>C (p.Glu582Gln) c.321G>C c.1198G>C (p.Glu400Gln) c.1159G>C (p.Glu387Gln) c.1462G>C (p.Glu488Gln) c.1309G>C (p.Glu437Gln) | |
| 8 | g.143728320C>T | CA372468428 | FAM83H | c.1141G>A (p.Glu381Lys) c.1744G>A (p.Glu582Lys) c.321G>A c.1198G>A (p.Glu400Lys) c.1159G>A (p.Glu387Lys) c.1462G>A (p.Glu488Lys) c.1309G>A (p.Glu437Lys) | |
| 8 | g.143728321C>A | CA463519570 | FAM83H | c.1140G>T (p.Leu380=) c.1743G>T (p.Leu581=) c.320G>T c.1197G>T (p.Leu399=) c.1158G>T (p.Leu386=) c.1461G>T (p.Leu487=) c.1308G>T (p.Leu436=) | gnomAD v4 |
| 8 | g.143728321C>G | CA463519568 | FAM83H | c.1140G>C (p.Leu380=) c.1743G>C (p.Leu581=) c.320G>C c.1197G>C (p.Leu399=) c.1158G>C (p.Leu386=) c.1461G>C (p.Leu487=) c.1308G>C (p.Leu436=) | |
| 8 | g.143728321C>T | CA463519569 | FAM83H | c.1140G>A (p.Leu380=) c.1743G>A (p.Leu581=) c.320G>A c.1197G>A (p.Leu399=) c.1158G>A (p.Leu386=) c.1461G>A (p.Leu487=) c.1308G>A (p.Leu436=) | gnomAD v4 |
| 8 | g.143728322A= | CA1825940695 | FAM83H | c.1139T= (p.Leu380=) c.1742T= (p.Leu581=) c.319T= c.1196T= (p.Leu399=) c.1157T= (p.Leu386=) c.1460T= (p.Leu487=) c.1307T= (p.Leu436=) | |
| 8 | g.143728322A>C | CA372468430 | FAM83H | c.1139T>G (p.Leu380Arg) c.1742T>G (p.Leu581Arg) c.319T>G c.1196T>G (p.Leu399Arg) c.1157T>G (p.Leu386Arg) c.1460T>G (p.Leu487Arg) c.1307T>G (p.Leu436Arg) | gnomAD v4 |
| 8 | g.143728322A>G | CA372468431 | FAM83H | c.1139T>C (p.Leu380Pro) c.1742T>C (p.Leu581Pro) c.319T>C c.1196T>C (p.Leu399Pro) c.1157T>C (p.Leu386Pro) c.1460T>C (p.Leu487Pro) c.1307T>C (p.Leu436Pro) | dbSNP gnomAD v4 |
| 8 | g.143728322A>T | CA372468433 | FAM83H | c.1139T>A (p.Leu380Gln) c.1742T>A (p.Leu581Gln) c.319T>A c.1196T>A (p.Leu399Gln) c.1157T>A (p.Leu386Gln) c.1460T>A (p.Leu487Gln) c.1307T>A (p.Leu436Gln) | gnomAD v4 |
| 8 | g.143728323G>A | CA463519571 | FAM83H | c.1138C>T (p.Leu380=) c.1741C>T (p.Leu581=) c.318C>T c.1195C>T (p.Leu399=) c.1156C>T (p.Leu386=) c.1459C>T (p.Leu487=) c.1306C>T (p.Leu436=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728323G>C | CA372468435 | FAM83H | c.1138C>G (p.Leu380Val) c.1741C>G (p.Leu581Val) c.318C>G c.1195C>G (p.Leu399Val) c.1156C>G (p.Leu386Val) c.1459C>G (p.Leu487Val) c.1306C>G (p.Leu436Val) | |
| 8 | g.143728323G= | CA1825940696 | FAM83H | c.1138C= (p.Leu380=) c.1741C= (p.Leu581=) c.318C= c.1195C= (p.Leu399=) c.1156C= (p.Leu386=) c.1459C= (p.Leu487=) c.1306C= (p.Leu436=) | |
| 8 | g.143728323G>T | CA372468436 | FAM83H | c.1138C>A (p.Leu380Met) c.1741C>A (p.Leu581Met) c.318C>A c.1195C>A (p.Leu399Met) c.1156C>A (p.Leu386Met) c.1459C>A (p.Leu487Met) c.1306C>A (p.Leu436Met) | gnomAD v4 |
| 8 | g.143728324G>A | CA463519572 | FAM83H | c.1137C>T (p.Arg379=) c.1740C>T (p.Arg580=) c.317C>T c.1194C>T (p.Arg398=) c.1155C>T (p.Arg385=) c.1458C>T (p.Arg486=) c.1305C>T (p.Arg435=) | gnomAD v4 |
| 8 | g.143728324G>C | CA463519573 | FAM83H | c.1137C>G (p.Arg379=) c.1740C>G (p.Arg580=) c.317C>G c.1194C>G (p.Arg398=) c.1155C>G (p.Arg385=) c.1458C>G (p.Arg486=) c.1305C>G (p.Arg435=) | |
| 8 | g.143728324G>T | CA463519574 | FAM83H | c.1137C>A (p.Arg379=) c.1740C>A (p.Arg580=) c.317C>A c.1194C>A (p.Arg398=) c.1155C>A (p.Arg385=) c.1458C>A (p.Arg486=) c.1305C>A (p.Arg435=) | gnomAD v4 |
| 8 | g.143728325C>A | CA372468439 | FAM83H | c.1136G>T (p.Arg379Leu) c.1739G>T (p.Arg580Leu) c.316G>T c.1193G>T (p.Arg398Leu) c.1154G>T (p.Arg385Leu) c.1457G>T (p.Arg486Leu) c.1304G>T (p.Arg435Leu) | gnomAD v4 |
| 8 | g.143728325C= | CA1825940697 | FAM83H | c.1136G= (p.Arg379=) c.1739G= (p.Arg580=) c.316G= c.1193G= (p.Arg398=) c.1154G= (p.Arg385=) c.1457G= (p.Arg486=) c.1304G= (p.Arg435=) | |
| 8 | g.143728325C>G | CA372468437 | FAM83H | c.1136G>C (p.Arg379Pro) c.1739G>C (p.Arg580Pro) c.316G>C c.1193G>C (p.Arg398Pro) c.1154G>C (p.Arg385Pro) c.1457G>C (p.Arg486Pro) c.1304G>C (p.Arg435Pro) | |
| 8 | g.143728325C>T | CA372468438 | FAM83H | c.1136G>A (p.Arg379His) c.1739G>A (p.Arg580His) c.316G>A c.1193G>A (p.Arg398His) c.1154G>A (p.Arg385His) c.1457G>A (p.Arg486His) c.1304G>A (p.Arg435His) | dbSNP gnomAD v4 |
| 8 | g.143728326G>A | CA372468440 | FAM83H | c.1135C>T (p.Arg379Cys) c.1738C>T (p.Arg580Cys) c.315C>T c.1192C>T (p.Arg398Cys) c.1153C>T (p.Arg385Cys) c.1456C>T (p.Arg486Cys) c.1303C>T (p.Arg435Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728326G>C | CA372468442 | FAM83H | c.1135C>G (p.Arg379Gly) c.1738C>G (p.Arg580Gly) c.315C>G c.1192C>G (p.Arg398Gly) c.1153C>G (p.Arg385Gly) c.1456C>G (p.Arg486Gly) c.1303C>G (p.Arg435Gly) | |
| 8 | g.143728326G= | CA1825940698 | FAM83H | c.1135C= (p.Arg379=) c.1738C= (p.Arg580=) c.315C= c.1192C= (p.Arg398=) c.1153C= (p.Arg385=) c.1456C= (p.Arg486=) c.1303C= (p.Arg435=) | |
| 8 | g.143728326G>T | CA372468441 | FAM83H | c.1135C>A (p.Arg379Ser) c.1738C>A (p.Arg580Ser) c.315C>A c.1192C>A (p.Arg398Ser) c.1153C>A (p.Arg385Ser) c.1456C>A (p.Arg486Ser) c.1303C>A (p.Arg435Ser) | |
| 8 | g.143728327C>A | CA463519575 | FAM83H | c.1134G>T (p.Arg378=) c.1737G>T (p.Arg579=) c.314G>T c.1191G>T (p.Arg397=) c.1152G>T (p.Arg384=) c.1455G>T (p.Arg485=) c.1302G>T (p.Arg434=) | |
| 8 | g.143728327C>G | CA463519577 | FAM83H | c.1134G>C (p.Arg378=) c.1737G>C (p.Arg579=) c.314G>C c.1191G>C (p.Arg397=) c.1152G>C (p.Arg384=) c.1455G>C (p.Arg485=) c.1302G>C (p.Arg434=) | |
| 8 | g.143728327C>T | CA463519576 | FAM83H | c.1134G>A (p.Arg378=) c.1737G>A (p.Arg579=) c.314G>A c.1191G>A (p.Arg397=) c.1152G>A (p.Arg384=) c.1455G>A (p.Arg485=) c.1302G>A (p.Arg434=) | |
| 8 | g.143728328C>A | CA372468443 | FAM83H | c.1133G>T (p.Arg378Leu) c.1736G>T (p.Arg579Leu) c.313G>T c.1190G>T (p.Arg397Leu) c.1151G>T (p.Arg384Leu) c.1454G>T (p.Arg485Leu) c.1301G>T (p.Arg434Leu) | |
| 8 | g.143728328C= | CA1825940699 | FAM83H | c.1133G= (p.Arg378=) c.1736G= (p.Arg579=) c.313G= c.1190G= (p.Arg397=) c.1151G= (p.Arg384=) c.1454G= (p.Arg485=) c.1301G= (p.Arg434=) | |
| 8 | g.143728328C>G | CA372468444 | FAM83H | c.1133G>C (p.Arg378Pro) c.1736G>C (p.Arg579Pro) c.313G>C c.1190G>C (p.Arg397Pro) c.1151G>C (p.Arg384Pro) c.1454G>C (p.Arg485Pro) c.1301G>C (p.Arg434Pro) | |
| 8 | g.143728328C>T | CA372468445 | FAM83H | c.1133G>A (p.Arg378Gln) c.1736G>A (p.Arg579Gln) c.313G>A c.1190G>A (p.Arg397Gln) c.1151G>A (p.Arg384Gln) c.1454G>A (p.Arg485Gln) c.1301G>A (p.Arg434Gln) | dbSNP gnomAD v4 |
| 8 | g.143728329G>A | CA372468446 | FAM83H | c.1132C>T (p.Arg378Trp) c.1735C>T (p.Arg579Trp) c.312C>T c.1189C>T (p.Arg397Trp) c.1150C>T (p.Arg384Trp) c.1453C>T (p.Arg485Trp) c.1300C>T (p.Arg434Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728329G>C | CA372468447 | FAM83H | c.1132C>G (p.Arg378Gly) c.1735C>G (p.Arg579Gly) c.312C>G c.1189C>G (p.Arg397Gly) c.1150C>G (p.Arg384Gly) c.1453C>G (p.Arg485Gly) c.1300C>G (p.Arg434Gly) | |
| 8 | g.143728329G= | CA1825940700 | FAM83H | c.1132C= (p.Arg378=) c.1735C= (p.Arg579=) c.312C= c.1189C= (p.Arg397=) c.1150C= (p.Arg384=) c.1453C= (p.Arg485=) c.1300C= (p.Arg434=) | |
| 8 | g.143728329G>T | CA463519578 | FAM83H | c.1132C>A (p.Arg378=) c.1735C>A (p.Arg579=) c.312C>A c.1189C>A (p.Arg397=) c.1150C>A (p.Arg384=) c.1453C>A (p.Arg485=) c.1300C>A (p.Arg434=) | |
| 8 | g.143728330C>A | CA463519579 | FAM83H | c.1131G>T (p.Ser377=) c.1734G>T (p.Ser578=) c.311G>T c.1188G>T (p.Ser396=) c.1149G>T (p.Ser383=) c.1452G>T (p.Ser484=) c.1299G>T (p.Ser433=) | gnomAD v4 |
| 8 | g.143728330C>G | CA463519580 | FAM83H | c.1131G>C (p.Ser377=) c.1734G>C (p.Ser578=) c.311G>C c.1188G>C (p.Ser396=) c.1149G>C (p.Ser383=) c.1452G>C (p.Ser484=) c.1299G>C (p.Ser433=) | |
| 8 | g.143728330C>T | CA463519581 | FAM83H | c.1131G>A (p.Ser377=) c.1734G>A (p.Ser578=) c.311G>A c.1188G>A (p.Ser396=) c.1149G>A (p.Ser383=) c.1452G>A (p.Ser484=) c.1299G>A (p.Ser433=) | gnomAD v4 |
| 8 | g.143728330_143728331delinsTT | CA2695210310 | FAM83H | c.1130_1131delinsAA (p.Ser377Ter) c.1733_1734delinsAA (p.Ser578Ter) c.310_311delinsAA c.1187_1188delinsAA (p.Ser396Ter) c.1148_1149delinsAA (p.Ser383Ter) c.1451_1452delinsAA (p.Ser484Ter) c.1298_1299delinsAA (p.Ser433Ter) | |
| 8 | g.143728331G>A | CA372468448 | FAM83H | c.1130C>T (p.Ser377Leu) c.1733C>T (p.Ser578Leu) c.310C>T c.1187C>T (p.Ser396Leu) c.1148C>T (p.Ser383Leu) c.1451C>T (p.Ser484Leu) c.1298C>T (p.Ser433Leu) | gnomAD v4 |
| 8 | g.143728331G>C | CA372468449 | FAM83H | c.1130C>G (p.Ser377Trp) c.1733C>G (p.Ser578Trp) c.310C>G c.1187C>G (p.Ser396Trp) c.1148C>G (p.Ser383Trp) c.1451C>G (p.Ser484Trp) c.1298C>G (p.Ser433Trp) | gnomAD v4 |
| 8 | g.143728331G>T | CA372468450 | FAM83H | c.1130C>A (p.Ser377Ter) c.1733C>A (p.Ser578Ter) c.310C>A c.1187C>A (p.Ser396Ter) c.1148C>A (p.Ser383Ter) c.1451C>A (p.Ser484Ter) c.1298C>A (p.Ser433Ter) | gnomAD v4 |
| 8 | g.143728332A>C | CA372468451 | FAM83H | c.1129T>G (p.Ser377Ala) c.1732T>G (p.Ser578Ala) c.309T>G c.1186T>G (p.Ser396Ala) c.1147T>G (p.Ser383Ala) c.1450T>G (p.Ser484Ala) c.1297T>G (p.Ser433Ala) | |
| 8 | g.143728332A>G | CA372468452 | FAM83H | c.1129T>C (p.Ser377Pro) c.1732T>C (p.Ser578Pro) c.309T>C c.1186T>C (p.Ser396Pro) c.1147T>C (p.Ser383Pro) c.1450T>C (p.Ser484Pro) c.1297T>C (p.Ser433Pro) | gnomAD v4 |
| 8 | g.143728332A>T | CA372468453 | FAM83H | c.1129T>A (p.Ser377Thr) c.1732T>A (p.Ser578Thr) c.309T>A c.1186T>A (p.Ser396Thr) c.1147T>A (p.Ser383Thr) c.1450T>A (p.Ser484Thr) c.1297T>A (p.Ser433Thr) | |
| 8 | g.143728333G>A | CA463519584 | FAM83H | c.1128C>T (p.Leu376=) c.1731C>T (p.Leu577=) c.308C>T c.1185C>T (p.Leu395=) c.1146C>T (p.Leu382=) c.1449C>T (p.Leu483=) c.1296C>T (p.Leu432=) | gnomAD v4 |
| 8 | g.143728333G>C | CA463519583 | FAM83H | c.1128C>G (p.Leu376=) c.1731C>G (p.Leu577=) c.308C>G c.1185C>G (p.Leu395=) c.1146C>G (p.Leu382=) c.1449C>G (p.Leu483=) c.1296C>G (p.Leu432=) | dbSNP gnomAD v4 |
| 8 | g.143728333G= | CA1825940701 | FAM83H | c.1128C= (p.Leu376=) c.1731C= (p.Leu577=) c.308C= c.1185C= (p.Leu395=) c.1146C= (p.Leu382=) c.1449C= (p.Leu483=) c.1296C= (p.Leu432=) | |
| 8 | g.143728333G>T | CA463519582 | FAM83H | c.1128C>A (p.Leu376=) c.1731C>A (p.Leu577=) c.308C>A c.1185C>A (p.Leu395=) c.1146C>A (p.Leu382=) c.1449C>A (p.Leu483=) c.1296C>A (p.Leu432=) | |
| 8 | g.143728334A>C | CA372468456 | FAM83H | c.1127T>G (p.Leu376Arg) c.1730T>G (p.Leu577Arg) c.307T>G c.1184T>G (p.Leu395Arg) c.1145T>G (p.Leu382Arg) c.1448T>G (p.Leu483Arg) c.1295T>G (p.Leu432Arg) | |
| 8 | g.143728334A>G | CA372468455 | FAM83H | c.1127T>C (p.Leu376Pro) c.1730T>C (p.Leu577Pro) c.307T>C c.1184T>C (p.Leu395Pro) c.1145T>C (p.Leu382Pro) c.1448T>C (p.Leu483Pro) c.1295T>C (p.Leu432Pro) | gnomAD v4 |
| 8 | g.143728334A>T | CA372468454 | FAM83H | c.1127T>A (p.Leu376His) c.1730T>A (p.Leu577His) c.307T>A c.1184T>A (p.Leu395His) c.1145T>A (p.Leu382His) c.1448T>A (p.Leu483His) c.1295T>A (p.Leu432His) | gnomAD v4 |
| 8 | g.143728335G>A | CA372468457 | FAM83H | c.1126C>T (p.Leu376Phe) c.1729C>T (p.Leu577Phe) c.306C>T c.1183C>T (p.Leu395Phe) c.1144C>T (p.Leu382Phe) c.1447C>T (p.Leu483Phe) c.1294C>T (p.Leu432Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728335G>C | CA372468458 | FAM83H | c.1126C>G (p.Leu376Val) c.1729C>G (p.Leu577Val) c.306C>G c.1183C>G (p.Leu395Val) c.1144C>G (p.Leu382Val) c.1447C>G (p.Leu483Val) c.1294C>G (p.Leu432Val) | dbSNP gnomAD v4 |
| 8 | g.143728335G= | CA1825940702 | FAM83H | c.1126C= (p.Leu376=) c.1729C= (p.Leu577=) c.306C= c.1183C= (p.Leu395=) c.1144C= (p.Leu382=) c.1447C= (p.Leu483=) c.1294C= (p.Leu432=) | |
| 8 | g.143728335G>T | CA372468459 | FAM83H | c.1126C>A (p.Leu376Ile) c.1729C>A (p.Leu577Ile) c.306C>A c.1183C>A (p.Leu395Ile) c.1144C>A (p.Leu382Ile) c.1447C>A (p.Leu483Ile) c.1294C>A (p.Leu432Ile) | |
| 8 | g.143728337_143728375del | CA2688980879 | FAM83H | c.1088_1126del (p.Pro363_Pro375del) c.1691_1729del (p.Pro564_Pro576del) c.268_306del c.1145_1183del (p.Pro382_Pro394del) c.1106_1144del (p.Pro369_Pro381del) c.1409_1447del (p.Pro470_Pro482del) c.1256_1294del (p.Pro419_Pro431del) | gnomAD v4 |
| 8 | g.143728336C>A | CA463519585 | FAM83H | c.1125G>T (p.Pro375=) c.1728G>T (p.Pro576=) c.305G>T c.1182G>T (p.Pro394=) c.1143G>T (p.Pro381=) c.1446G>T (p.Pro482=) c.1293G>T (p.Pro431=) | gnomAD v4 |
| 8 | g.143728336C= | CA1825940703 | FAM83H | c.1125G= (p.Pro375=) c.1728G= (p.Pro576=) c.305G= c.1182G= (p.Pro394=) c.1143G= (p.Pro381=) c.1446G= (p.Pro482=) c.1293G= (p.Pro431=) | |
| 8 | g.143728336C>G | CA463519586 | FAM83H | c.1125G>C (p.Pro375=) c.1728G>C (p.Pro576=) c.305G>C c.1182G>C (p.Pro394=) c.1143G>C (p.Pro381=) c.1446G>C (p.Pro482=) c.1293G>C (p.Pro431=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728336C>T | CA463519587 | FAM83H | c.1125G>A (p.Pro375=) c.1728G>A (p.Pro576=) c.305G>A c.1182G>A (p.Pro394=) c.1143G>A (p.Pro381=) c.1446G>A (p.Pro482=) c.1293G>A (p.Pro431=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728337G>A | CA372468460 | FAM83H | c.1124C>T (p.Pro375Leu) c.1727C>T (p.Pro576Leu) c.304C>T c.1181C>T (p.Pro394Leu) c.1142C>T (p.Pro381Leu) c.1445C>T (p.Pro482Leu) c.1292C>T (p.Pro431Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728337G>C | CA372468461 | FAM83H | c.1124C>G (p.Pro375Arg) c.1727C>G (p.Pro576Arg) c.304C>G c.1181C>G (p.Pro394Arg) c.1142C>G (p.Pro381Arg) c.1445C>G (p.Pro482Arg) c.1292C>G (p.Pro431Arg) | gnomAD v4 |
| 8 | g.143728337G= | CA1825940704 | FAM83H | c.1124C= (p.Pro375=) c.1727C= (p.Pro576=) c.304C= c.1181C= (p.Pro394=) c.1142C= (p.Pro381=) c.1445C= (p.Pro482=) c.1292C= (p.Pro431=) | |
| 8 | g.143728337G>T | CA372468463 | FAM83H | c.1124C>A (p.Pro375Gln) c.1727C>A (p.Pro576Gln) c.304C>A c.1181C>A (p.Pro394Gln) c.1142C>A (p.Pro381Gln) c.1445C>A (p.Pro482Gln) c.1292C>A (p.Pro431Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728338G>A | CA372468464 | FAM83H | c.1123C>T (p.Pro375Ser) c.1726C>T (p.Pro576Ser) c.303C>T c.1180C>T (p.Pro394Ser) c.1141C>T (p.Pro381Ser) c.1444C>T (p.Pro482Ser) c.1291C>T (p.Pro431Ser) | |
| 8 | g.143728338G>C | CA372468466 | FAM83H | c.1123C>G (p.Pro375Ala) c.1726C>G (p.Pro576Ala) c.303C>G c.1180C>G (p.Pro394Ala) c.1141C>G (p.Pro381Ala) c.1444C>G (p.Pro482Ala) c.1291C>G (p.Pro431Ala) | |
| 8 | g.143728338G>T | CA372468468 | FAM83H | c.1123C>A (p.Pro375Thr) c.1726C>A (p.Pro576Thr) c.303C>A c.1180C>A (p.Pro394Thr) c.1141C>A (p.Pro381Thr) c.1444C>A (p.Pro482Thr) c.1291C>A (p.Pro431Thr) | gnomAD v4 |
| 8 | g.143728339C>A | CA463519588 | FAM83H | c.1122G>T (p.Arg374=) c.1725G>T (p.Arg575=) c.302G>T c.1179G>T (p.Arg393=) c.1140G>T (p.Arg380=) c.1443G>T (p.Arg481=) c.1290G>T (p.Arg430=) | |
| 8 | g.143728339C>G | CA463519589 | FAM83H | c.1122G>C (p.Arg374=) c.1725G>C (p.Arg575=) c.302G>C c.1179G>C (p.Arg393=) c.1140G>C (p.Arg380=) c.1443G>C (p.Arg481=) c.1290G>C (p.Arg430=) | |
| 8 | g.143728339C>T | CA463519590 | FAM83H | c.1122G>A (p.Arg374=) c.1725G>A (p.Arg575=) c.302G>A c.1179G>A (p.Arg393=) c.1140G>A (p.Arg380=) c.1443G>A (p.Arg481=) c.1290G>A (p.Arg430=) | |
| 8 | g.143728340C>A | CA372468469 | FAM83H | c.1121G>T (p.Arg374Leu) c.1724G>T (p.Arg575Leu) c.301G>T c.1178G>T (p.Arg393Leu) c.1139G>T (p.Arg380Leu) c.1442G>T (p.Arg481Leu) c.1289G>T (p.Arg430Leu) | gnomAD v4 |
| 8 | g.143728340C= | CA1825940705 | FAM83H | c.1121G= (p.Arg374=) c.1724G= (p.Arg575=) c.301G= c.1178G= (p.Arg393=) c.1139G= (p.Arg380=) c.1442G= (p.Arg481=) c.1289G= (p.Arg430=) | |
| 8 | g.143728340C>G | CA372468471 | FAM83H | c.1121G>C (p.Arg374Pro) c.1724G>C (p.Arg575Pro) c.301G>C c.1178G>C (p.Arg393Pro) c.1139G>C (p.Arg380Pro) c.1442G>C (p.Arg481Pro) c.1289G>C (p.Arg430Pro) | |
| 8 | g.143728340C>T | CA372468474 | FAM83H | c.1121G>A (p.Arg374Gln) c.1724G>A (p.Arg575Gln) c.301G>A c.1178G>A (p.Arg393Gln) c.1139G>A (p.Arg380Gln) c.1442G>A (p.Arg481Gln) c.1289G>A (p.Arg430Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728341G>A | CA4917515 | FAM83H | c.1120C>T (p.Arg374Trp) c.1723C>T (p.Arg575Trp) c.300C>T c.1177C>T (p.Arg393Trp) c.1138C>T (p.Arg380Trp) c.1441C>T (p.Arg481Trp) c.1288C>T (p.Arg430Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728341G>C | CA372468475 | FAM83H | c.1120C>G (p.Arg374Gly) c.1723C>G (p.Arg575Gly) c.300C>G c.1177C>G (p.Arg393Gly) c.1138C>G (p.Arg380Gly) c.1441C>G (p.Arg481Gly) c.1288C>G (p.Arg430Gly) | |
| 8 | g.143728341G= | CA1825940706 | FAM83H | c.1120C= (p.Arg374=) c.1723C= (p.Arg575=) c.300C= c.1177C= (p.Arg393=) c.1138C= (p.Arg380=) c.1441C= (p.Arg481=) c.1288C= (p.Arg430=) | |
| 8 | g.143728341G>T | CA463519591 | FAM83H | c.1120C>A (p.Arg374=) c.1723C>A (p.Arg575=) c.300C>A c.1177C>A (p.Arg393=) c.1138C>A (p.Arg380=) c.1441C>A (p.Arg481=) c.1288C>A (p.Arg430=) | gnomAD v4 |
| 8 | g.143728342C>A | CA463519592 | FAM83H | c.1119G>T (p.Leu373=) c.1722G>T (p.Leu574=) c.299G>T c.1176G>T (p.Leu392=) c.1137G>T (p.Leu379=) c.1440G>T (p.Leu480=) c.1287G>T (p.Leu429=) | |
| 8 | g.143728342C>G | CA463519593 | FAM83H | c.1119G>C (p.Leu373=) c.1722G>C (p.Leu574=) c.299G>C c.1176G>C (p.Leu392=) c.1137G>C (p.Leu379=) c.1440G>C (p.Leu480=) c.1287G>C (p.Leu429=) | |
| 8 | g.143728342C>T | CA463519594 | FAM83H | c.1119G>A (p.Leu373=) c.1722G>A (p.Leu574=) c.299G>A c.1176G>A (p.Leu392=) c.1137G>A (p.Leu379=) c.1440G>A (p.Leu480=) c.1287G>A (p.Leu429=) | gnomAD v4 |
| 8 | g.143728343A>C | CA372468478 | FAM83H | c.1118T>G (p.Leu373Arg) c.1721T>G (p.Leu574Arg) c.298T>G c.1175T>G (p.Leu392Arg) c.1136T>G (p.Leu379Arg) c.1439T>G (p.Leu480Arg) c.1286T>G (p.Leu429Arg) | |
| 8 | g.143728343A>G | CA372468480 | FAM83H | c.1118T>C (p.Leu373Pro) c.1721T>C (p.Leu574Pro) c.298T>C c.1175T>C (p.Leu392Pro) c.1136T>C (p.Leu379Pro) c.1439T>C (p.Leu480Pro) c.1286T>C (p.Leu429Pro) | gnomAD v4 |
| 8 | g.143728343A>T | CA372468481 | FAM83H | c.1118T>A (p.Leu373Gln) c.1721T>A (p.Leu574Gln) c.298T>A c.1175T>A (p.Leu392Gln) c.1136T>A (p.Leu379Gln) c.1439T>A (p.Leu480Gln) c.1286T>A (p.Leu429Gln) | |
| 8 | g.143728344G>A | CA463519595 | FAM83H | c.1117C>T (p.Leu373=) c.1720C>T (p.Leu574=) c.297C>T c.1174C>T (p.Leu392=) c.1135C>T (p.Leu379=) c.1438C>T (p.Leu480=) c.1285C>T (p.Leu429=) | |
| 8 | g.143728344G>C | CA372468483 | FAM83H | c.1117C>G (p.Leu373Val) c.1720C>G (p.Leu574Val) c.297C>G c.1174C>G (p.Leu392Val) c.1135C>G (p.Leu379Val) c.1438C>G (p.Leu480Val) c.1285C>G (p.Leu429Val) | |
| 8 | g.143728344G>T | CA372468485 | FAM83H | c.1117C>A (p.Leu373Met) c.1720C>A (p.Leu574Met) c.297C>A c.1174C>A (p.Leu392Met) c.1135C>A (p.Leu379Met) c.1438C>A (p.Leu480Met) c.1285C>A (p.Leu429Met) | |
| 8 | g.143728345C>A | CA463519596 | FAM83H | c.1116G>T (p.Gly372=) c.1719G>T (p.Gly573=) c.296G>T c.1173G>T (p.Gly391=) c.1134G>T (p.Gly378=) c.1437G>T (p.Gly479=) c.1284G>T (p.Gly428=) | gnomAD v4 |
| 8 | g.143728345C= | CA1825940707 | FAM83H | c.1116G= (p.Gly372=) c.1719G= (p.Gly573=) c.296G= c.1173G= (p.Gly391=) c.1134G= (p.Gly378=) c.1437G= (p.Gly479=) c.1284G= (p.Gly428=) | |
| 8 | g.143728345C>G | CA463519597 | FAM83H | c.1116G>C (p.Gly372=) c.1719G>C (p.Gly573=) c.296G>C c.1173G>C (p.Gly391=) c.1134G>C (p.Gly378=) c.1437G>C (p.Gly479=) c.1284G>C (p.Gly428=) | gnomAD v4 |
| 8 | g.143728345C>T | CA4917516 | FAM83H | c.1116G>A (p.Gly372=) c.1719G>A (p.Gly573=) c.296G>A c.1173G>A (p.Gly391=) c.1134G>A (p.Gly378=) c.1437G>A (p.Gly479=) c.1284G>A (p.Gly428=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728346C>A | CA372468492 | FAM83H | c.1115G>T (p.Gly372Val) c.1718G>T (p.Gly573Val) c.295G>T c.1172G>T (p.Gly391Val) c.1133G>T (p.Gly378Val) c.1436G>T (p.Gly479Val) c.1283G>T (p.Gly428Val) | gnomAD v4 |
| 8 | g.143728346C= | CA1825940708 | FAM83H | c.1115G= (p.Gly372=) c.1718G= (p.Gly573=) c.295G= c.1172G= (p.Gly391=) c.1133G= (p.Gly378=) c.1436G= (p.Gly479=) c.1283G= (p.Gly428=) | |
| 8 | g.143728346C>G | CA372468490 | FAM83H | c.1115G>C (p.Gly372Ala) c.1718G>C (p.Gly573Ala) c.295G>C c.1172G>C (p.Gly391Ala) c.1133G>C (p.Gly378Ala) c.1436G>C (p.Gly479Ala) c.1283G>C (p.Gly428Ala) | |
| 8 | g.143728346C>T | CA372468488 | FAM83H | c.1115G>A (p.Gly372Glu) c.1718G>A (p.Gly573Glu) c.295G>A c.1172G>A (p.Gly391Glu) c.1133G>A (p.Gly378Glu) c.1436G>A (p.Gly479Glu) c.1283G>A (p.Gly428Glu) | dbSNP |
| 8 | g.143728347C>A | CA372468522 | FAM83H | c.1114G>T (p.Gly372Trp) c.1717G>T (p.Gly573Trp) c.294G>T c.1171G>T (p.Gly391Trp) c.1132G>T (p.Gly378Trp) c.1435G>T (p.Gly479Trp) c.1282G>T (p.Gly428Trp) | gnomAD v4 |
| 8 | g.143728347C>G | CA372468540 | FAM83H | c.1114G>C (p.Gly372Arg) c.1717G>C (p.Gly573Arg) c.294G>C c.1171G>C (p.Gly391Arg) c.1132G>C (p.Gly378Arg) c.1435G>C (p.Gly479Arg) c.1282G>C (p.Gly428Arg) | |
| 8 | g.143728347C>T | CA372468542 | FAM83H | c.1114G>A (p.Gly372Arg) c.1717G>A (p.Gly573Arg) c.294G>A c.1171G>A (p.Gly391Arg) c.1132G>A (p.Gly378Arg) c.1435G>A (p.Gly479Arg) c.1282G>A (p.Gly428Arg) | gnomAD v4 |
| 8 | g.143728348C>A | CA463519599 | FAM83H | c.1113G>T (p.Ala371=) c.1716G>T (p.Ala572=) c.293G>T c.1170G>T (p.Ala390=) c.1131G>T (p.Ala377=) c.1434G>T (p.Ala478=) c.1281G>T (p.Ala427=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728348C= | CA1825940709 | FAM83H | c.1113G= (p.Ala371=) c.1716G= (p.Ala572=) c.293G= c.1170G= (p.Ala390=) c.1131G= (p.Ala377=) c.1434G= (p.Ala478=) c.1281G= (p.Ala427=) | |
| 8 | g.143728348C>G | CA463519600 | FAM83H | c.1113G>C (p.Ala371=) c.1716G>C (p.Ala572=) c.293G>C c.1170G>C (p.Ala390=) c.1131G>C (p.Ala377=) c.1434G>C (p.Ala478=) c.1281G>C (p.Ala427=) | |
| 8 | g.143728348C>T | CA463519598 | FAM83H | c.1113G>A (p.Ala371=) c.1716G>A (p.Ala572=) c.293G>A c.1170G>A (p.Ala390=) c.1131G>A (p.Ala377=) c.1434G>A (p.Ala478=) c.1281G>A (p.Ala427=) | gnomAD v4 |
| 8 | g.143728349G>A | CA372468545 | FAM83H | c.1112C>T (p.Ala371Val) c.1715C>T (p.Ala572Val) c.292C>T c.1169C>T (p.Ala390Val) c.1130C>T (p.Ala377Val) c.1433C>T (p.Ala478Val) c.1280C>T (p.Ala427Val) | gnomAD v4 |
| 8 | g.143728349G>C | CA372468546 | FAM83H | c.1112C>G (p.Ala371Gly) c.1715C>G (p.Ala572Gly) c.292C>G c.1169C>G (p.Ala390Gly) c.1130C>G (p.Ala377Gly) c.1433C>G (p.Ala478Gly) c.1280C>G (p.Ala427Gly) | |
| 8 | g.143728349G>T | CA372468549 | FAM83H | c.1112C>A (p.Ala371Glu) c.1715C>A (p.Ala572Glu) c.292C>A c.1169C>A (p.Ala390Glu) c.1130C>A (p.Ala377Glu) c.1433C>A (p.Ala478Glu) c.1280C>A (p.Ala427Glu) | gnomAD v4 |
| 8 | g.143728350C>A | CA372468551 | FAM83H | c.1111G>T (p.Ala371Ser) c.1714G>T (p.Ala572Ser) c.291G>T c.1168G>T (p.Ala390Ser) c.1129G>T (p.Ala377Ser) c.1432G>T (p.Ala478Ser) c.1279G>T (p.Ala427Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728350C= | CA1825940710 | FAM83H | c.1111G= (p.Ala371=) c.1714G= (p.Ala572=) c.291G= c.1168G= (p.Ala390=) c.1129G= (p.Ala377=) c.1432G= (p.Ala478=) c.1279G= (p.Ala427=) | |
| 8 | g.143728350C>G | CA372468554 | FAM83H | c.1111G>C (p.Ala371Pro) c.1714G>C (p.Ala572Pro) c.291G>C c.1168G>C (p.Ala390Pro) c.1129G>C (p.Ala377Pro) c.1432G>C (p.Ala478Pro) c.1279G>C (p.Ala427Pro) | |
| 8 | g.143728350C>T | CA372468552 | FAM83H | c.1111G>A (p.Ala371Thr) c.1714G>A (p.Ala572Thr) c.291G>A c.1168G>A (p.Ala390Thr) c.1129G>A (p.Ala377Thr) c.1432G>A (p.Ala478Thr) c.1279G>A (p.Ala427Thr) | dbSNP gnomAD v4 |
| 8 | g.143728351G>A | CA463519601 | FAM83H | c.1110C>T (p.His370=) c.1713C>T (p.His571=) c.290C>T c.1167C>T (p.His389=) c.1128C>T (p.His376=) c.1431C>T (p.His477=) c.1278C>T (p.His426=) | dbSNP gnomAD v4 |
| 8 | g.143728351G>C | CA372468556 | FAM83H | c.1110C>G (p.His370Gln) c.1713C>G (p.His571Gln) c.290C>G c.1167C>G (p.His389Gln) c.1128C>G (p.His376Gln) c.1431C>G (p.His477Gln) c.1278C>G (p.His426Gln) | gnomAD v4 |
| 8 | g.143728351G= | CA1825940711 | FAM83H | c.1110C= (p.His370=) c.1713C= (p.His571=) c.290C= c.1167C= (p.His389=) c.1128C= (p.His376=) c.1431C= (p.His477=) c.1278C= (p.His426=) | |
| 8 | g.143728351G>T | CA372468558 | FAM83H | c.1110C>A (p.His370Gln) c.1713C>A (p.His571Gln) c.290C>A c.1167C>A (p.His389Gln) c.1128C>A (p.His376Gln) c.1431C>A (p.His477Gln) c.1278C>A (p.His426Gln) | |
| 8 | g.143728352T>A | CA372468561 | FAM83H | c.1109A>T (p.His370Leu) c.1712A>T (p.His571Leu) c.289A>T c.1166A>T (p.His389Leu) c.1127A>T (p.His376Leu) c.1430A>T (p.His477Leu) c.1277A>T (p.His426Leu) | gnomAD v4 |
| 8 | g.143728352T>C | CA372468562 | FAM83H | c.1109A>G (p.His370Arg) c.1712A>G (p.His571Arg) c.289A>G c.1166A>G (p.His389Arg) c.1127A>G (p.His376Arg) c.1430A>G (p.His477Arg) c.1277A>G (p.His426Arg) | |
| 8 | g.143728352T>G | CA372468563 | FAM83H | c.1109A>C (p.His370Pro) c.1712A>C (p.His571Pro) c.289A>C c.1166A>C (p.His389Pro) c.1127A>C (p.His376Pro) c.1430A>C (p.His477Pro) c.1277A>C (p.His426Pro) | |
| 8 | g.143728353G>A | CA372468566 | FAM83H | c.1108C>T (p.His370Tyr) c.1711C>T (p.His571Tyr) c.288C>T c.1165C>T (p.His389Tyr) c.1126C>T (p.His376Tyr) c.1429C>T (p.His477Tyr) c.1276C>T (p.His426Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728353G>C | CA372468567 | FAM83H | c.1108C>G (p.His370Asp) c.1711C>G (p.His571Asp) c.288C>G c.1165C>G (p.His389Asp) c.1126C>G (p.His376Asp) c.1429C>G (p.His477Asp) c.1276C>G (p.His426Asp) | |
| 8 | g.143728353G= | CA1825940712 | FAM83H | c.1108C= (p.His370=) c.1711C= (p.His571=) c.288C= c.1165C= (p.His389=) c.1126C= (p.His376=) c.1429C= (p.His477=) c.1276C= (p.His426=) | |
| 8 | g.143728353G>T | CA372468569 | FAM83H | c.1108C>A (p.His370Asn) c.1711C>A (p.His571Asn) c.288C>A c.1165C>A (p.His389Asn) c.1126C>A (p.His376Asn) c.1429C>A (p.His477Asn) c.1276C>A (p.His426Asn) | |
| 8 | g.143728354C>A | CA463519602 | FAM83H | c.1107G>T (p.Pro369=) c.1710G>T (p.Pro570=) c.287G>T c.1164G>T (p.Pro388=) c.1125G>T (p.Pro375=) c.1428G>T (p.Pro476=) c.1275G>T (p.Pro425=) | dbSNP |
| 8 | g.143728354C= | CA1825940713 | FAM83H | c.1107G= (p.Pro369=) c.1710G= (p.Pro570=) c.287G= c.1164G= (p.Pro388=) c.1125G= (p.Pro375=) c.1428G= (p.Pro476=) c.1275G= (p.Pro425=) | |
| 8 | g.143728354C>G | CA463519604 | FAM83H | c.1107G>C (p.Pro369=) c.1710G>C (p.Pro570=) c.287G>C c.1164G>C (p.Pro388=) c.1125G>C (p.Pro375=) c.1428G>C (p.Pro476=) c.1275G>C (p.Pro425=) | |
| 8 | g.143728354C>T | CA463519603 | FAM83H | c.1107G>A (p.Pro369=) c.1710G>A (p.Pro570=) c.287G>A c.1164G>A (p.Pro388=) c.1125G>A (p.Pro375=) c.1428G>A (p.Pro476=) c.1275G>A (p.Pro425=) | gnomAD v4 |
| 8 | g.143728355G>A | CA372468571 | FAM83H | c.1106C>T (p.Pro369Leu) c.1709C>T (p.Pro570Leu) c.286C>T c.1163C>T (p.Pro388Leu) c.1124C>T (p.Pro375Leu) c.1427C>T (p.Pro476Leu) c.1274C>T (p.Pro425Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728355G>C | CA372468573 | FAM83H | c.1106C>G (p.Pro369Arg) c.1709C>G (p.Pro570Arg) c.286C>G c.1163C>G (p.Pro388Arg) c.1124C>G (p.Pro375Arg) c.1427C>G (p.Pro476Arg) c.1274C>G (p.Pro425Arg) | |
| 8 | g.143728355G= | CA1825940714 | FAM83H | c.1106C= (p.Pro369=) c.1709C= (p.Pro570=) c.286C= c.1163C= (p.Pro388=) c.1124C= (p.Pro375=) c.1427C= (p.Pro476=) c.1274C= (p.Pro425=) | |
| 8 | g.143728355G>T | CA372468575 | FAM83H | c.1106C>A (p.Pro369Gln) c.1709C>A (p.Pro570Gln) c.286C>A c.1163C>A (p.Pro388Gln) c.1124C>A (p.Pro375Gln) c.1427C>A (p.Pro476Gln) c.1274C>A (p.Pro425Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728356G>A | CA372468577 | FAM83H | c.1105C>T (p.Pro369Ser) c.1708C>T (p.Pro570Ser) c.285C>T c.1162C>T (p.Pro388Ser) c.1123C>T (p.Pro375Ser) c.1426C>T (p.Pro476Ser) c.1273C>T (p.Pro425Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728356G>C | CA372468581 | FAM83H | c.1105C>G (p.Pro369Ala) c.1708C>G (p.Pro570Ala) c.285C>G c.1162C>G (p.Pro388Ala) c.1123C>G (p.Pro375Ala) c.1426C>G (p.Pro476Ala) c.1273C>G (p.Pro425Ala) | |
| 8 | g.143728356G= | CA1825940715 | FAM83H | c.1105C= (p.Pro369=) c.1708C= (p.Pro570=) c.285C= c.1162C= (p.Pro388=) c.1123C= (p.Pro375=) c.1426C= (p.Pro476=) c.1273C= (p.Pro425=) | |
| 8 | g.143728356G>T | CA372468579 | FAM83H | c.1105C>A (p.Pro369Thr) c.1708C>A (p.Pro570Thr) c.285C>A c.1162C>A (p.Pro388Thr) c.1123C>A (p.Pro375Thr) c.1426C>A (p.Pro476Thr) c.1273C>A (p.Pro425Thr) | gnomAD v4 |
| 8 | g.143728357T>A | CA372468583 | FAM83H | c.1104A>T (p.Glu368Asp) c.1707A>T (p.Glu569Asp) c.284A>T c.1161A>T (p.Glu387Asp) c.1122A>T (p.Glu374Asp) c.1425A>T (p.Glu475Asp) c.1272A>T (p.Glu424Asp) | |
| 8 | g.143728357T>C | CA463519605 | FAM83H | c.1104A>G (p.Glu368=) c.1707A>G (p.Glu569=) c.284A>G c.1161A>G (p.Glu387=) c.1122A>G (p.Glu374=) c.1425A>G (p.Glu475=) c.1272A>G (p.Glu424=) | dbSNP |
| 8 | g.143728357T>G | CA372468585 | FAM83H | c.1104A>C (p.Glu368Asp) c.1707A>C (p.Glu569Asp) c.284A>C c.1161A>C (p.Glu387Asp) c.1122A>C (p.Glu374Asp) c.1425A>C (p.Glu475Asp) c.1272A>C (p.Glu424Asp) | |
| 8 | g.143728357T= | CA1825940716 | FAM83H | c.1104A= (p.Glu368=) c.1707A= (p.Glu569=) c.284A= c.1161A= (p.Glu387=) c.1122A= (p.Glu374=) c.1425A= (p.Glu475=) c.1272A= (p.Glu424=) | |
| 8 | g.143728358T>A | CA372468586 | FAM83H | c.1103A>T (p.Glu368Val) c.1706A>T (p.Glu569Val) c.283A>T c.1160A>T (p.Glu387Val) c.1121A>T (p.Glu374Val) c.1424A>T (p.Glu475Val) c.1271A>T (p.Glu424Val) | |
| 8 | g.143728358T>C | CA372468587 | FAM83H | c.1103A>G (p.Glu368Gly) c.1706A>G (p.Glu569Gly) c.283A>G c.1160A>G (p.Glu387Gly) c.1121A>G (p.Glu374Gly) c.1424A>G (p.Glu475Gly) c.1271A>G (p.Glu424Gly) | |
| 8 | g.143728358T>G | CA372468588 | FAM83H | c.1103A>C (p.Glu368Ala) c.1706A>C (p.Glu569Ala) c.283A>C c.1160A>C (p.Glu387Ala) c.1121A>C (p.Glu374Ala) c.1424A>C (p.Glu475Ala) c.1271A>C (p.Glu424Ala) | |
| 8 | g.143728359C>A | CA372468589 | FAM83H | c.1102G>T (p.Glu368Ter) c.1705G>T (p.Glu569Ter) c.282G>T c.1159G>T (p.Glu387Ter) c.1120G>T (p.Glu374Ter) c.1423G>T (p.Glu475Ter) c.1270G>T (p.Glu424Ter) | |
| 8 | g.143728359C= | CA1825940717 | FAM83H | c.1102G= (p.Glu368=) c.1705G= (p.Glu569=) c.282G= c.1159G= (p.Glu387=) c.1120G= (p.Glu374=) c.1423G= (p.Glu475=) c.1270G= (p.Glu424=) | |
| 8 | g.143728359C>G | CA372468591 | FAM83H | c.1102G>C (p.Glu368Gln) c.1705G>C (p.Glu569Gln) c.282G>C c.1159G>C (p.Glu387Gln) c.1120G>C (p.Glu374Gln) c.1423G>C (p.Glu475Gln) c.1270G>C (p.Glu424Gln) | |
| 8 | g.143728359C>T | CA372468593 | FAM83H | c.1102G>A (p.Glu368Lys) c.1705G>A (p.Glu569Lys) c.282G>A c.1159G>A (p.Glu387Lys) c.1120G>A (p.Glu374Lys) c.1423G>A (p.Glu475Lys) c.1270G>A (p.Glu424Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728361_143728370dup | CA2688980923 | FAM83H | c.1093_1102dup (p.Glu368GlyfsTer?) c.1696_1705dup (p.Glu569GlyfsTer?) c.273_282dup c.1150_1159dup (p.Glu387GlyfsTer?) c.1111_1120dup (p.Glu374GlyfsTer?) c.1414_1423dup (p.Glu475GlyfsTer?) c.1261_1270dup (p.Glu424GlyfsTer?) | gnomAD v4 |
| 8 | g.143728360C>A | CA463519606 | FAM83H | c.1101G>T (p.Leu367=) c.1704G>T (p.Leu568=) c.281G>T c.1158G>T (p.Leu386=) c.1119G>T (p.Leu373=) c.1422G>T (p.Leu474=) c.1269G>T (p.Leu423=) | |
| 8 | g.143728360C>G | CA463519607 | FAM83H | c.1101G>C (p.Leu367=) c.1704G>C (p.Leu568=) c.281G>C c.1158G>C (p.Leu386=) c.1119G>C (p.Leu373=) c.1422G>C (p.Leu474=) c.1269G>C (p.Leu423=) | |
| 8 | g.143728360C>T | CA463519608 | FAM83H | c.1101G>A (p.Leu367=) c.1704G>A (p.Leu568=) c.281G>A c.1158G>A (p.Leu386=) c.1119G>A (p.Leu373=) c.1422G>A (p.Leu474=) c.1269G>A (p.Leu423=) | |
| 8 | g.143728361A>C | CA372468598 | FAM83H | c.1100T>G (p.Leu367Arg) c.1703T>G (p.Leu568Arg) c.280T>G c.1157T>G (p.Leu386Arg) c.1118T>G (p.Leu373Arg) c.1421T>G (p.Leu474Arg) c.1268T>G (p.Leu423Arg) | |
| 8 | g.143728361A>G | CA372468596 | FAM83H | c.1100T>C (p.Leu367Pro) c.1703T>C (p.Leu568Pro) c.280T>C c.1157T>C (p.Leu386Pro) c.1118T>C (p.Leu373Pro) c.1421T>C (p.Leu474Pro) c.1268T>C (p.Leu423Pro) | |
| 8 | g.143728361A>T | CA372468595 | FAM83H | c.1100T>A (p.Leu367Gln) c.1703T>A (p.Leu568Gln) c.280T>A c.1157T>A (p.Leu386Gln) c.1118T>A (p.Leu373Gln) c.1421T>A (p.Leu474Gln) c.1268T>A (p.Leu423Gln) | gnomAD v4 |
| 8 | g.143728362G>A | CA4917517 | FAM83H | c.1099C>T (p.Leu367=) c.1702C>T (p.Leu568=) c.279C>T c.1156C>T (p.Leu386=) c.1117C>T (p.Leu373=) c.1420C>T (p.Leu474=) c.1267C>T (p.Leu423=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728362G>C | CA372468600 | FAM83H | c.1099C>G (p.Leu367Val) c.1702C>G (p.Leu568Val) c.279C>G c.1156C>G (p.Leu386Val) c.1117C>G (p.Leu373Val) c.1420C>G (p.Leu474Val) c.1267C>G (p.Leu423Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728362G= | CA1825940718 | FAM83H | c.1099C= (p.Leu367=) c.1702C= (p.Leu568=) c.279C= c.1156C= (p.Leu386=) c.1117C= (p.Leu373=) c.1420C= (p.Leu474=) c.1267C= (p.Leu423=) | |
| 8 | g.143728362G>T | CA372468601 | FAM83H | c.1099C>A (p.Leu367Met) c.1702C>A (p.Leu568Met) c.279C>A c.1156C>A (p.Leu386Met) c.1117C>A (p.Leu373Met) c.1420C>A (p.Leu474Met) c.1267C>A (p.Leu423Met) | |
| 8 | g.143728363C>A | CA463519609 | FAM83H | c.1098G>T (p.Ala366=) c.1701G>T (p.Ala567=) c.278G>T c.1155G>T (p.Ala385=) c.1116G>T (p.Ala372=) c.1419G>T (p.Ala473=) c.1266G>T (p.Ala422=) | gnomAD v4 |
| 8 | g.143728363C= | CA1825940719 | FAM83H | c.1098G= (p.Ala366=) c.1701G= (p.Ala567=) c.278G= c.1155G= (p.Ala385=) c.1116G= (p.Ala372=) c.1419G= (p.Ala473=) c.1266G= (p.Ala422=) | |
| 8 | g.143728363C>G | CA463519610 | FAM83H | c.1098G>C (p.Ala366=) c.1701G>C (p.Ala567=) c.278G>C c.1155G>C (p.Ala385=) c.1116G>C (p.Ala372=) c.1419G>C (p.Ala473=) c.1266G>C (p.Ala422=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728363C>T | CA463519611 | FAM83H | c.1098G>A (p.Ala366=) c.1701G>A (p.Ala567=) c.278G>A c.1155G>A (p.Ala385=) c.1116G>A (p.Ala372=) c.1419G>A (p.Ala473=) c.1266G>A (p.Ala422=) | dbSNP gnomAD v4 |
| 8 | g.143728364G>A | CA372468602 | FAM83H | c.1097C>T (p.Ala366Val) c.1700C>T (p.Ala567Val) c.277C>T c.1154C>T (p.Ala385Val) c.1115C>T (p.Ala372Val) c.1418C>T (p.Ala473Val) c.1265C>T (p.Ala422Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728364G>C | CA372468603 | FAM83H | c.1097C>G (p.Ala366Gly) c.1700C>G (p.Ala567Gly) c.277C>G c.1154C>G (p.Ala385Gly) c.1115C>G (p.Ala372Gly) c.1418C>G (p.Ala473Gly) c.1265C>G (p.Ala422Gly) | |
| 8 | g.143728364G= | CA1825940720 | FAM83H | c.1097C= (p.Ala366=) c.1700C= (p.Ala567=) c.277C= c.1154C= (p.Ala385=) c.1115C= (p.Ala372=) c.1418C= (p.Ala473=) c.1265C= (p.Ala422=) | |
| 8 | g.143728364G>T | CA4917518 | FAM83H | c.1097C>A (p.Ala366Glu) c.1700C>A (p.Ala567Glu) c.277C>A c.1154C>A (p.Ala385Glu) c.1115C>A (p.Ala372Glu) c.1418C>A (p.Ala473Glu) c.1265C>A (p.Ala422Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728365C>A | CA372468606 | FAM83H | c.1096G>T (p.Ala366Ser) c.1699G>T (p.Ala567Ser) c.276G>T c.1153G>T (p.Ala385Ser) c.1114G>T (p.Ala372Ser) c.1417G>T (p.Ala473Ser) c.1264G>T (p.Ala422Ser) | |
| 8 | g.143728365C= | CA1825940721 | FAM83H | c.1096G= (p.Ala366=) c.1699G= (p.Ala567=) c.276G= c.1153G= (p.Ala385=) c.1114G= (p.Ala372=) c.1417G= (p.Ala473=) c.1264G= (p.Ala422=) | |
| 8 | g.143728365C>G | CA4917519 | FAM83H | c.1096G>C (p.Ala366Pro) c.1699G>C (p.Ala567Pro) c.276G>C c.1153G>C (p.Ala385Pro) c.1114G>C (p.Ala372Pro) c.1417G>C (p.Ala473Pro) c.1264G>C (p.Ala422Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728365C>T | CA4917520 | FAM83H | c.1096G>A (p.Ala366Thr) c.1699G>A (p.Ala567Thr) c.276G>A c.1153G>A (p.Ala385Thr) c.1114G>A (p.Ala372Thr) c.1417G>A (p.Ala473Thr) c.1264G>A (p.Ala422Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728366G>A | CA463519613 | FAM83H | c.1095C>T (p.Gly365=) c.1698C>T (p.Gly566=) c.275C>T c.1152C>T (p.Gly384=) c.1113C>T (p.Gly371=) c.1416C>T (p.Gly472=) c.1263C>T (p.Gly421=) | dbSNP |
| 8 | g.143728366G>C | CA463519612 | FAM83H | c.1095C>G (p.Gly365=) c.1698C>G (p.Gly566=) c.275C>G c.1152C>G (p.Gly384=) c.1113C>G (p.Gly371=) c.1416C>G (p.Gly472=) c.1263C>G (p.Gly421=) | |
| 8 | g.143728366G= | CA1825940722 | FAM83H | c.1095C= (p.Gly365=) c.1698C= (p.Gly566=) c.275C= c.1152C= (p.Gly384=) c.1113C= (p.Gly371=) c.1416C= (p.Gly472=) c.1263C= (p.Gly421=) | |
| 8 | g.143728366G>T | CA463519614 | FAM83H | c.1095C>A (p.Gly365=) c.1698C>A (p.Gly566=) c.275C>A c.1152C>A (p.Gly384=) c.1113C>A (p.Gly371=) c.1416C>A (p.Gly472=) c.1263C>A (p.Gly421=) | |
| 8 | g.143728367C>A | CA372468609 | FAM83H | c.1094G>T (p.Gly365Val) c.1697G>T (p.Gly566Val) c.274G>T c.1151G>T (p.Gly384Val) c.1112G>T (p.Gly371Val) c.1415G>T (p.Gly472Val) c.1262G>T (p.Gly421Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728367C= | CA1825940723 | FAM83H | c.1094G= (p.Gly365=) c.1697G= (p.Gly566=) c.274G= c.1151G= (p.Gly384=) c.1112G= (p.Gly371=) c.1415G= (p.Gly472=) c.1262G= (p.Gly421=) | |
| 8 | g.143728367C>G | CA372468610 | FAM83H | c.1094G>C (p.Gly365Ala) c.1697G>C (p.Gly566Ala) c.274G>C c.1151G>C (p.Gly384Ala) c.1112G>C (p.Gly371Ala) c.1415G>C (p.Gly472Ala) c.1262G>C (p.Gly421Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728367C>T | CA372468611 | FAM83H | c.1094G>A (p.Gly365Asp) c.1697G>A (p.Gly566Asp) c.274G>A c.1151G>A (p.Gly384Asp) c.1112G>A (p.Gly371Asp) c.1415G>A (p.Gly472Asp) c.1262G>A (p.Gly421Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728372dup | CA585729878 | FAM83H | c.1094dup (p.Ala366ArgfsTer?) c.1697dup (p.Ala567ArgfsTer?) c.274dup c.1151dup (p.Ala385ArgfsTer?) c.1112dup (p.Ala372ArgfsTer?) c.1415dup (p.Ala473ArgfsTer?) c.1262dup (p.Ala422ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728372del | CA585729879 | FAM83H | c.1094del (p.Gly365AlafsTer?) c.1697del (p.Gly566AlafsTer?) c.274del c.1151del (p.Gly384AlafsTer?) c.1112del (p.Gly371AlafsTer?) c.1415del (p.Gly472AlafsTer?) c.1262del (p.Gly421AlafsTer?) | gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.143728368C>A | CA372468612 | FAM83H | c.1093G>T (p.Gly365Cys) c.1696G>T (p.Gly566Cys) c.273G>T c.1150G>T (p.Gly384Cys) c.1111G>T (p.Gly371Cys) c.1414G>T (p.Gly472Cys) c.1261G>T (p.Gly421Cys) | dbSNP gnomAD v4 |
| 8 | g.143728368C= | CA1825940724 | FAM83H | c.1093G= (p.Gly365=) c.1696G= (p.Gly566=) c.273G= c.1150G= (p.Gly384=) c.1111G= (p.Gly371=) c.1414G= (p.Gly472=) c.1261G= (p.Gly421=) | |
| 8 | g.143728368C>G | CA4917521 | FAM83H | c.1093G>C (p.Gly365Arg) c.1696G>C (p.Gly566Arg) c.273G>C c.1150G>C (p.Gly384Arg) c.1111G>C (p.Gly371Arg) c.1414G>C (p.Gly472Arg) c.1261G>C (p.Gly421Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728368C>T | CA372468614 | FAM83H | c.1093G>A (p.Gly365Ser) c.1696G>A (p.Gly566Ser) c.273G>A c.1150G>A (p.Gly384Ser) c.1111G>A (p.Gly371Ser) c.1414G>A (p.Gly472Ser) c.1261G>A (p.Gly421Ser) | |
| 8 | g.143728369C>A | CA463519617 | FAM83H | c.1092G>T (p.Gly364=) c.1695G>T (p.Gly565=) c.272G>T c.1149G>T (p.Gly383=) c.1110G>T (p.Gly370=) c.1413G>T (p.Gly471=) c.1260G>T (p.Gly420=) | |
| 8 | g.143728369C= | CA1825940725 | FAM83H | c.1092G= (p.Gly364=) c.1695G= (p.Gly565=) c.272G= c.1149G= (p.Gly383=) c.1110G= (p.Gly370=) c.1413G= (p.Gly471=) c.1260G= (p.Gly420=) | |
| 8 | g.143728369C>G | CA463519615 | FAM83H | c.1092G>C (p.Gly364=) c.1695G>C (p.Gly565=) c.272G>C c.1149G>C (p.Gly383=) c.1110G>C (p.Gly370=) c.1413G>C (p.Gly471=) c.1260G>C (p.Gly420=) | |
| 8 | g.143728369C>T | CA463519616 | FAM83H | c.1092G>A (p.Gly364=) c.1695G>A (p.Gly565=) c.272G>A c.1149G>A (p.Gly383=) c.1110G>A (p.Gly370=) c.1413G>A (p.Gly471=) c.1260G>A (p.Gly420=) | gnomAD v4 |
| 8 | g.143728370C>A | CA372468616 | FAM83H | c.1091G>T (p.Gly364Val) c.1694G>T (p.Gly565Val) c.271G>T c.1148G>T (p.Gly383Val) c.1109G>T (p.Gly370Val) c.1412G>T (p.Gly471Val) c.1259G>T (p.Gly420Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728370C= | CA1825940726 | FAM83H | c.1091G= (p.Gly364=) c.1694G= (p.Gly565=) c.271G= c.1148G= (p.Gly383=) c.1109G= (p.Gly370=) c.1412G= (p.Gly471=) c.1259G= (p.Gly420=) | |
| 8 | g.143728370C>G | CA372468617 | FAM83H | c.1091G>C (p.Gly364Ala) c.1694G>C (p.Gly565Ala) c.271G>C c.1148G>C (p.Gly383Ala) c.1109G>C (p.Gly370Ala) c.1412G>C (p.Gly471Ala) c.1259G>C (p.Gly420Ala) | gnomAD v4 |
| 8 | g.143728370C>T | CA372468618 | FAM83H | c.1091G>A (p.Gly364Glu) c.1694G>A (p.Gly565Glu) c.271G>A c.1148G>A (p.Gly383Glu) c.1109G>A (p.Gly370Glu) c.1412G>A (p.Gly471Glu) c.1259G>A (p.Gly420Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728376_143728397dup | CA585729880 | FAM83H | c.1070_1091dup (p.Leu367AlafsTer?) c.1673_1694dup (p.Leu568AlafsTer?) c.250_271dup c.1127_1148dup (p.Leu386AlafsTer?) c.1088_1109dup (p.Leu373AlafsTer?) c.1391_1412dup (p.Leu474AlafsTer?) c.1238_1259dup (p.Leu423AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728371C>A | CA372468620 | FAM83H | c.1090G>T (p.Gly364Trp) c.1693G>T (p.Gly565Trp) c.270G>T c.1147G>T (p.Gly383Trp) c.1108G>T (p.Gly370Trp) c.1411G>T (p.Gly471Trp) c.1258G>T (p.Gly420Trp) | gnomAD v4 |
| 8 | g.143728371C= | CA1825940727 | FAM83H | c.1090G= (p.Gly364=) c.1693G= (p.Gly565=) c.270G= c.1147G= (p.Gly383=) c.1108G= (p.Gly370=) c.1411G= (p.Gly471=) c.1258G= (p.Gly420=) | |
| 8 | g.143728371C>G | CA372468622 | FAM83H | c.1090G>C (p.Gly364Arg) c.1693G>C (p.Gly565Arg) c.270G>C c.1147G>C (p.Gly383Arg) c.1108G>C (p.Gly370Arg) c.1411G>C (p.Gly471Arg) c.1258G>C (p.Gly420Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728371C>T | CA372468623 | FAM83H | c.1090G>A (p.Gly364Arg) c.1693G>A (p.Gly565Arg) c.270G>A c.1147G>A (p.Gly383Arg) c.1108G>A (p.Gly370Arg) c.1411G>A (p.Gly471Arg) c.1258G>A (p.Gly420Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728372C>A | CA463519620 | FAM83H | c.1089G>T (p.Pro363=) c.1692G>T (p.Pro564=) c.269G>T c.1146G>T (p.Pro382=) c.1107G>T (p.Pro369=) c.1410G>T (p.Pro470=) c.1257G>T (p.Pro419=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728372C= | CA1825940728 | FAM83H | c.1089G= (p.Pro363=) c.1692G= (p.Pro564=) c.269G= c.1146G= (p.Pro382=) c.1107G= (p.Pro369=) c.1410G= (p.Pro470=) c.1257G= (p.Pro419=) | |
| 8 | g.143728372C>G | CA463519619 | FAM83H | c.1089G>C (p.Pro363=) c.1692G>C (p.Pro564=) c.269G>C c.1146G>C (p.Pro382=) c.1107G>C (p.Pro369=) c.1410G>C (p.Pro470=) c.1257G>C (p.Pro419=) | gnomAD v4 |
| 8 | g.143728372C>T | CA463519618 | FAM83H | c.1089G>A (p.Pro363=) c.1692G>A (p.Pro564=) c.269G>A c.1146G>A (p.Pro382=) c.1107G>A (p.Pro369=) c.1410G>A (p.Pro470=) c.1257G>A (p.Pro419=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728373G>A | CA4917522 | FAM83H | c.1088C>T (p.Pro363Leu) c.1691C>T (p.Pro564Leu) c.268C>T c.1145C>T (p.Pro382Leu) c.1106C>T (p.Pro369Leu) c.1409C>T (p.Pro470Leu) c.1256C>T (p.Pro419Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728373G>C | CA372468627 | FAM83H | c.1088C>G (p.Pro363Arg) c.1691C>G (p.Pro564Arg) c.268C>G c.1145C>G (p.Pro382Arg) c.1106C>G (p.Pro369Arg) c.1409C>G (p.Pro470Arg) c.1256C>G (p.Pro419Arg) | gnomAD v4 |
| 8 | g.143728373G= | CA1825940729 | FAM83H | c.1088C= (p.Pro363=) c.1691C= (p.Pro564=) c.268C= c.1145C= (p.Pro382=) c.1106C= (p.Pro369=) c.1409C= (p.Pro470=) c.1256C= (p.Pro419=) | |
| 8 | g.143728373G>T | CA372468625 | FAM83H | c.1088C>A (p.Pro363Gln) c.1691C>A (p.Pro564Gln) c.268C>A c.1145C>A (p.Pro382Gln) c.1106C>A (p.Pro369Gln) c.1409C>A (p.Pro470Gln) c.1256C>A (p.Pro419Gln) | |
| 8 | g.143728374G>A | CA4917523 | FAM83H | c.1087C>T (p.Pro363Ser) c.1690C>T (p.Pro564Ser) c.267C>T c.1144C>T (p.Pro382Ser) c.1105C>T (p.Pro369Ser) c.1408C>T (p.Pro470Ser) c.1255C>T (p.Pro419Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728374G>C | CA372468629 | FAM83H | c.1087C>G (p.Pro363Ala) c.1690C>G (p.Pro564Ala) c.267C>G c.1144C>G (p.Pro382Ala) c.1105C>G (p.Pro369Ala) c.1408C>G (p.Pro470Ala) c.1255C>G (p.Pro419Ala) | |
| 8 | g.143728374G= | CA1825940730 | FAM83H | c.1087C= (p.Pro363=) c.1690C= (p.Pro564=) c.267C= c.1144C= (p.Pro382=) c.1105C= (p.Pro369=) c.1408C= (p.Pro470=) c.1255C= (p.Pro419=) | |
| 8 | g.143728374G>T | CA372468631 | FAM83H | c.1087C>A (p.Pro363Thr) c.1690C>A (p.Pro564Thr) c.267C>A c.1144C>A (p.Pro382Thr) c.1105C>A (p.Pro369Thr) c.1408C>A (p.Pro470Thr) c.1255C>A (p.Pro419Thr) | gnomAD v4 |
| 8 | g.143728375C>A | CA372468632 | FAM83H | c.1086G>T (p.Met362Ile) c.1689G>T (p.Met563Ile) c.266G>T c.1143G>T (p.Met381Ile) c.1104G>T (p.Met368Ile) c.1407G>T (p.Met469Ile) c.1254G>T (p.Met418Ile) | gnomAD v4 |
| 8 | g.143728375C>G | CA372468634 | FAM83H | c.1086G>C (p.Met362Ile) c.1689G>C (p.Met563Ile) c.266G>C c.1143G>C (p.Met381Ile) c.1104G>C (p.Met368Ile) c.1407G>C (p.Met469Ile) c.1254G>C (p.Met418Ile) | |
| 8 | g.143728375C>T | CA372468635 | FAM83H | c.1086G>A (p.Met362Ile) c.1689G>A (p.Met563Ile) c.266G>A c.1143G>A (p.Met381Ile) c.1104G>A (p.Met368Ile) c.1407G>A (p.Met469Ile) c.1254G>A (p.Met418Ile) | |
| 8 | g.143728376A>C | CA372468637 | FAM83H | c.1085T>G (p.Met362Arg) c.1688T>G (p.Met563Arg) c.265T>G c.1142T>G (p.Met381Arg) c.1103T>G (p.Met368Arg) c.1406T>G (p.Met469Arg) c.1253T>G (p.Met418Arg) | |
| 8 | g.143728376A>G | CA372468639 | FAM83H | c.1085T>C (p.Met362Thr) c.1688T>C (p.Met563Thr) c.265T>C c.1142T>C (p.Met381Thr) c.1103T>C (p.Met368Thr) c.1406T>C (p.Met469Thr) c.1253T>C (p.Met418Thr) | gnomAD v4 |
| 8 | g.143728376A>T | CA372468640 | FAM83H | c.1085T>A (p.Met362Lys) c.1688T>A (p.Met563Lys) c.265T>A c.1142T>A (p.Met381Lys) c.1103T>A (p.Met368Lys) c.1406T>A (p.Met469Lys) c.1253T>A (p.Met418Lys) | |
| 8 | g.143728377T>A | CA372468642 | FAM83H | c.1084A>T (p.Met362Leu) c.1687A>T (p.Met563Leu) c.264A>T c.1141A>T (p.Met381Leu) c.1102A>T (p.Met368Leu) c.1405A>T (p.Met469Leu) c.1252A>T (p.Met418Leu) | |
| 8 | g.143728377T>C | CA372468643 | FAM83H | c.1084A>G (p.Met362Val) c.1687A>G (p.Met563Val) c.264A>G c.1141A>G (p.Met381Val) c.1102A>G (p.Met368Val) c.1405A>G (p.Met469Val) c.1252A>G (p.Met418Val) | |
| 8 | g.143728377T>G | CA372468644 | FAM83H | c.1084A>C (p.Met362Leu) c.1687A>C (p.Met563Leu) c.264A>C c.1141A>C (p.Met381Leu) c.1102A>C (p.Met368Leu) c.1405A>C (p.Met469Leu) c.1252A>C (p.Met418Leu) | |
| 8 | g.143728378C>A | CA463519621 | FAM83H | c.1083G>T (p.Arg361=) c.1686G>T (p.Arg562=) c.263G>T c.1140G>T (p.Arg380=) c.1101G>T (p.Arg367=) c.1404G>T (p.Arg468=) c.1251G>T (p.Arg417=) | gnomAD v4 |
| 8 | g.143728378C= | CA1825940731 | FAM83H | c.1083G= (p.Arg361=) c.1686G= (p.Arg562=) c.263G= c.1140G= (p.Arg380=) c.1101G= (p.Arg367=) c.1404G= (p.Arg468=) c.1251G= (p.Arg417=) | |
| 8 | g.143728378C>G | CA463519622 | FAM83H | c.1083G>C (p.Arg361=) c.1686G>C (p.Arg562=) c.263G>C c.1140G>C (p.Arg380=) c.1101G>C (p.Arg367=) c.1404G>C (p.Arg468=) c.1251G>C (p.Arg417=) | |
| 8 | g.143728378C>T | CA463519623 | FAM83H | c.1083G>A (p.Arg361=) c.1686G>A (p.Arg562=) c.263G>A c.1140G>A (p.Arg380=) c.1101G>A (p.Arg367=) c.1404G>A (p.Arg468=) c.1251G>A (p.Arg417=) | dbSNP |
| 8 | g.143728379C>A | CA372468650 | FAM83H | c.1082G>T (p.Arg361Leu) c.1685G>T (p.Arg562Leu) c.262G>T c.1139G>T (p.Arg380Leu) c.1100G>T (p.Arg367Leu) c.1403G>T (p.Arg468Leu) c.1250G>T (p.Arg417Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728379C= | CA1825940732 | FAM83H | c.1082G= (p.Arg361=) c.1685G= (p.Arg562=) c.262G= c.1139G= (p.Arg380=) c.1100G= (p.Arg367=) c.1403G= (p.Arg468=) c.1250G= (p.Arg417=) | |
| 8 | g.143728379C>G | CA372468649 | FAM83H | c.1082G>C (p.Arg361Pro) c.1685G>C (p.Arg562Pro) c.262G>C c.1139G>C (p.Arg380Pro) c.1100G>C (p.Arg367Pro) c.1403G>C (p.Arg468Pro) c.1250G>C (p.Arg417Pro) | |
| 8 | g.143728379C>T | CA372468647 | FAM83H | c.1082G>A (p.Arg361Gln) c.1685G>A (p.Arg562Gln) c.262G>A c.1139G>A (p.Arg380Gln) c.1100G>A (p.Arg367Gln) c.1403G>A (p.Arg468Gln) c.1250G>A (p.Arg417Gln) | dbSNP gnomAD v4 |
| 8 | g.143728380G>A | CA4917524 | FAM83H | c.1081C>T (p.Arg361Trp) c.1684C>T (p.Arg562Trp) c.261C>T c.1138C>T (p.Arg380Trp) c.1099C>T (p.Arg367Trp) c.1402C>T (p.Arg468Trp) c.1249C>T (p.Arg417Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728380G>C | CA372468651 | FAM83H | c.1081C>G (p.Arg361Gly) c.1684C>G (p.Arg562Gly) c.261C>G c.1138C>G (p.Arg380Gly) c.1099C>G (p.Arg367Gly) c.1402C>G (p.Arg468Gly) c.1249C>G (p.Arg417Gly) | |
| 8 | g.143728380G= | CA1825940733 | FAM83H | c.1081C= (p.Arg361=) c.1684C= (p.Arg562=) c.261C= c.1138C= (p.Arg380=) c.1099C= (p.Arg367=) c.1402C= (p.Arg468=) c.1249C= (p.Arg417=) | |
| 8 | g.143728380G>T | CA463519624 | FAM83H | c.1081C>A (p.Arg361=) c.1684C>A (p.Arg562=) c.261C>A c.1138C>A (p.Arg380=) c.1099C>A (p.Arg367=) c.1402C>A (p.Arg468=) c.1249C>A (p.Arg417=) | |
| 8 | g.143728381C>A | CA463519625 | FAM83H | c.1080G>T (p.Pro360=) c.1683G>T (p.Pro561=) c.260G>T c.1137G>T (p.Pro379=) c.1098G>T (p.Pro366=) c.1401G>T (p.Pro467=) c.1248G>T (p.Pro416=) | |
| 8 | g.143728381C= | CA1825940734 | FAM83H | c.1080G= (p.Pro360=) c.1683G= (p.Pro561=) c.260G= c.1137G= (p.Pro379=) c.1098G= (p.Pro366=) c.1401G= (p.Pro467=) c.1248G= (p.Pro416=) | |
| 8 | g.143728381C>G | CA463519626 | FAM83H | c.1080G>C (p.Pro360=) c.1683G>C (p.Pro561=) c.260G>C c.1137G>C (p.Pro379=) c.1098G>C (p.Pro366=) c.1401G>C (p.Pro467=) c.1248G>C (p.Pro416=) | |
| 8 | g.143728381C>T | CA463519627 | FAM83H | c.1080G>A (p.Pro360=) c.1683G>A (p.Pro561=) c.260G>A c.1137G>A (p.Pro379=) c.1098G>A (p.Pro366=) c.1401G>A (p.Pro467=) c.1248G>A (p.Pro416=) | dbSNP gnomAD v4 |
| 8 | g.143728387_143728399del | CA2605497408 | FAM83H | c.1068_1080del (p.Glu357GlyfsTer?) c.1671_1683del (p.Glu558GlyfsTer?) c.248_260del c.1125_1137del (p.Glu376GlyfsTer?) c.1086_1098del (p.Glu363GlyfsTer?) c.1389_1401del (p.Glu464GlyfsTer?) c.1236_1248del (p.Glu413GlyfsTer?) | gnomAD v3 gnomAD v4 |
| 8 | g.143728382G>A | CA4917526 | FAM83H | c.1079C>T (p.Pro360Leu) c.1682C>T (p.Pro561Leu) c.259C>T c.1136C>T (p.Pro379Leu) c.1097C>T (p.Pro366Leu) c.1400C>T (p.Pro467Leu) c.1247C>T (p.Pro416Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728382G>C | CA372468653 | FAM83H | c.1079C>G (p.Pro360Arg) c.1682C>G (p.Pro561Arg) c.259C>G c.1136C>G (p.Pro379Arg) c.1097C>G (p.Pro366Arg) c.1400C>G (p.Pro467Arg) c.1247C>G (p.Pro416Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728382G= | CA1825940735 | FAM83H | c.1079C= (p.Pro360=) c.1682C= (p.Pro561=) c.259C= c.1136C= (p.Pro379=) c.1097C= (p.Pro366=) c.1400C= (p.Pro467=) c.1247C= (p.Pro416=) | |
| 8 | g.143728382G>T | CA4917525 | FAM83H | c.1079C>A (p.Pro360Gln) c.1682C>A (p.Pro561Gln) c.259C>A c.1136C>A (p.Pro379Gln) c.1097C>A (p.Pro366Gln) c.1400C>A (p.Pro467Gln) c.1247C>A (p.Pro416Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728383G>A | CA372468656 | FAM83H | c.1078C>T (p.Pro360Ser) c.1681C>T (p.Pro561Ser) c.258C>T c.1135C>T (p.Pro379Ser) c.1096C>T (p.Pro366Ser) c.1399C>T (p.Pro467Ser) c.1246C>T (p.Pro416Ser) | gnomAD v4 |
| 8 | g.143728383G>C | CA372468657 | FAM83H | c.1078C>G (p.Pro360Ala) c.1681C>G (p.Pro561Ala) c.258C>G c.1135C>G (p.Pro379Ala) c.1096C>G (p.Pro366Ala) c.1399C>G (p.Pro467Ala) c.1246C>G (p.Pro416Ala) | |
| 8 | g.143728383G>T | CA372468658 | FAM83H | c.1078C>A (p.Pro360Thr) c.1681C>A (p.Pro561Thr) c.258C>A c.1135C>A (p.Pro379Thr) c.1096C>A (p.Pro366Thr) c.1399C>A (p.Pro467Thr) c.1246C>A (p.Pro416Thr) | |
| 8 | g.143728384C>A | CA463519628 | FAM83H | c.1077G>T (p.Pro359=) c.1680G>T (p.Pro560=) c.257G>T c.1134G>T (p.Pro378=) c.1095G>T (p.Pro365=) c.1398G>T (p.Pro466=) c.1245G>T (p.Pro415=) | gnomAD v4 |
| 8 | g.143728384C= | CA1825940736 | FAM83H | c.1077G= (p.Pro359=) c.1680G= (p.Pro560=) c.257G= c.1134G= (p.Pro378=) c.1095G= (p.Pro365=) c.1398G= (p.Pro466=) c.1245G= (p.Pro415=) | |
| 8 | g.143728384C>G | CA463519629 | FAM83H | c.1077G>C (p.Pro359=) c.1680G>C (p.Pro560=) c.257G>C c.1134G>C (p.Pro378=) c.1095G>C (p.Pro365=) c.1398G>C (p.Pro466=) c.1245G>C (p.Pro415=) | |
| 8 | g.143728384C>T | CA4917527 | FAM83H | c.1077G>A (p.Pro359=) c.1680G>A (p.Pro560=) c.257G>A c.1134G>A (p.Pro378=) c.1095G>A (p.Pro365=) c.1398G>A (p.Pro466=) c.1245G>A (p.Pro415=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728385G>A | CA372468662 | FAM83H | c.1076C>T (p.Pro359Leu) c.1679C>T (p.Pro560Leu) c.256C>T c.1133C>T (p.Pro378Leu) c.1094C>T (p.Pro365Leu) c.1397C>T (p.Pro466Leu) c.1244C>T (p.Pro415Leu) | dbSNP gnomAD v4 |
| 8 | g.143728385G>C | CA372468663 | FAM83H | c.1076C>G (p.Pro359Arg) c.1679C>G (p.Pro560Arg) c.256C>G c.1133C>G (p.Pro378Arg) c.1094C>G (p.Pro365Arg) c.1397C>G (p.Pro466Arg) c.1244C>G (p.Pro415Arg) | |
| 8 | g.143728385G>T | CA372468664 | FAM83H | c.1076C>A (p.Pro359Gln) c.1679C>A (p.Pro560Gln) c.256C>A c.1133C>A (p.Pro378Gln) c.1094C>A (p.Pro365Gln) c.1397C>A (p.Pro466Gln) c.1244C>A (p.Pro415Gln) | gnomAD v4 |
| 8 | g.143728386G>A | CA372468666 | FAM83H | c.1075C>T (p.Pro359Ser) c.1678C>T (p.Pro560Ser) c.255C>T c.1132C>T (p.Pro378Ser) c.1093C>T (p.Pro365Ser) c.1396C>T (p.Pro466Ser) c.1243C>T (p.Pro415Ser) | gnomAD v4 |
| 8 | g.143728386G>C | CA372468669 | FAM83H | c.1075C>G (p.Pro359Ala) c.1678C>G (p.Pro560Ala) c.255C>G c.1132C>G (p.Pro378Ala) c.1093C>G (p.Pro365Ala) c.1396C>G (p.Pro466Ala) c.1243C>G (p.Pro415Ala) | gnomAD v4 |
| 8 | g.143728386G= | CA1825940737 | FAM83H | c.1075C= (p.Pro359=) c.1678C= (p.Pro560=) c.255C= c.1132C= (p.Pro378=) c.1093C= (p.Pro365=) c.1396C= (p.Pro466=) c.1243C= (p.Pro415=) | |
| 8 | g.143728386G>T | CA372468668 | FAM83H | c.1075C>A (p.Pro359Thr) c.1678C>A (p.Pro560Thr) c.255C>A c.1132C>A (p.Pro378Thr) c.1093C>A (p.Pro365Thr) c.1396C>A (p.Pro466Thr) c.1243C>A (p.Pro415Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728387C>A | CA372468670 | FAM83H | c.1074G>T (p.Glu358Asp) c.1677G>T (p.Glu559Asp) c.254G>T c.1131G>T (p.Glu377Asp) c.1092G>T (p.Glu364Asp) c.1395G>T (p.Glu465Asp) c.1242G>T (p.Glu414Asp) | gnomAD v4 |
| 8 | g.143728387C>G | CA372468671 | FAM83H | c.1074G>C (p.Glu358Asp) c.1677G>C (p.Glu559Asp) c.254G>C c.1131G>C (p.Glu377Asp) c.1092G>C (p.Glu364Asp) c.1395G>C (p.Glu465Asp) c.1242G>C (p.Glu414Asp) | |
| 8 | g.143728387C>T | CA463519630 | FAM83H | c.1074G>A (p.Glu358=) c.1677G>A (p.Glu559=) c.254G>A c.1131G>A (p.Glu377=) c.1092G>A (p.Glu364=) c.1395G>A (p.Glu465=) c.1242G>A (p.Glu414=) | gnomAD v4 |
| 8 | g.143728388T>A | CA372468673 | FAM83H | c.1073A>T (p.Glu358Val) c.1676A>T (p.Glu559Val) c.253A>T c.1130A>T (p.Glu377Val) c.1091A>T (p.Glu364Val) c.1394A>T (p.Glu465Val) c.1241A>T (p.Glu414Val) | |
| 8 | g.143728388T>C | CA372468674 | FAM83H | c.1073A>G (p.Glu358Gly) c.1676A>G (p.Glu559Gly) c.253A>G c.1130A>G (p.Glu377Gly) c.1091A>G (p.Glu364Gly) c.1394A>G (p.Glu465Gly) c.1241A>G (p.Glu414Gly) | gnomAD v4 |
| 8 | g.143728388T>G | CA372468676 | FAM83H | c.1073A>C (p.Glu358Ala) c.1676A>C (p.Glu559Ala) c.253A>C c.1130A>C (p.Glu377Ala) c.1091A>C (p.Glu364Ala) c.1394A>C (p.Glu465Ala) c.1241A>C (p.Glu414Ala) | |
| 8 | g.143728389C>A | CA372468677 | FAM83H | c.1072G>T (p.Glu358Ter) c.1675G>T (p.Glu559Ter) c.252G>T c.1129G>T (p.Glu377Ter) c.1090G>T (p.Glu364Ter) c.1393G>T (p.Glu465Ter) c.1240G>T (p.Glu414Ter) | |
| 8 | g.143728389C= | CA1825940738 | FAM83H | c.1072G= (p.Glu358=) c.1675G= (p.Glu559=) c.252G= c.1129G= (p.Glu377=) c.1090G= (p.Glu364=) c.1393G= (p.Glu465=) c.1240G= (p.Glu414=) | |
| 8 | g.143728389C>G | CA372468678 | FAM83H | c.1072G>C (p.Glu358Gln) c.1675G>C (p.Glu559Gln) c.252G>C c.1129G>C (p.Glu377Gln) c.1090G>C (p.Glu364Gln) c.1393G>C (p.Glu465Gln) c.1240G>C (p.Glu414Gln) | |
| 8 | g.143728389C>T | CA372468679 | FAM83H | c.1072G>A (p.Glu358Lys) c.1675G>A (p.Glu559Lys) c.252G>A c.1129G>A (p.Glu377Lys) c.1090G>A (p.Glu364Lys) c.1393G>A (p.Glu465Lys) c.1240G>A (p.Glu414Lys) | gnomAD v4 |
| 8 | g.143728390C>A | CA372468681 | FAM83H | c.1071G>T (p.Glu357Asp) c.1674G>T (p.Glu558Asp) c.251G>T c.1128G>T (p.Glu376Asp) c.1089G>T (p.Glu363Asp) c.1392G>T (p.Glu464Asp) c.1239G>T (p.Glu413Asp) | gnomAD v4 |
| 8 | g.143728390C= | CA1825940739 | FAM83H | c.1071G= (p.Glu357=) c.1674G= (p.Glu558=) c.251G= c.1128G= (p.Glu376=) c.1089G= (p.Glu363=) c.1392G= (p.Glu464=) c.1239G= (p.Glu413=) | |
| 8 | g.143728390C>G | CA372468682 | FAM83H | c.1071G>C (p.Glu357Asp) c.1674G>C (p.Glu558Asp) c.251G>C c.1128G>C (p.Glu376Asp) c.1089G>C (p.Glu363Asp) c.1392G>C (p.Glu464Asp) c.1239G>C (p.Glu413Asp) | |
| 8 | g.143728390C>T | CA463519631 | FAM83H | c.1071G>A (p.Glu357=) c.1674G>A (p.Glu558=) c.251G>A c.1128G>A (p.Glu376=) c.1089G>A (p.Glu363=) c.1392G>A (p.Glu464=) c.1239G>A (p.Glu413=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728390_143728401dup | CA585729881 | FAM83H | c.1060_1071dup (p.Glu357_Glu358insPheArgArgGlu) c.1663_1674dup (p.Glu558_Glu559insPheArgArgGlu) c.240_251dup c.1117_1128dup (p.Glu376_Glu377insPheArgArgGlu) c.1078_1089dup (p.Glu363_Glu364insPheArgArgGlu) c.1381_1392dup (p.Glu464_Glu465insPheArgArgGlu) c.1228_1239dup (p.Glu413_Glu414insPheArgArgGlu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728391T>A | CA372468684 | FAM83H | c.1070A>T (p.Glu357Val) c.1673A>T (p.Glu558Val) c.250A>T c.1127A>T (p.Glu376Val) c.1088A>T (p.Glu363Val) c.1391A>T (p.Glu464Val) c.1238A>T (p.Glu413Val) | |
| 8 | g.143728391T>C | CA372468685 | FAM83H | c.1070A>G (p.Glu357Gly) c.1673A>G (p.Glu558Gly) c.250A>G c.1127A>G (p.Glu376Gly) c.1088A>G (p.Glu363Gly) c.1391A>G (p.Glu464Gly) c.1238A>G (p.Glu413Gly) | gnomAD v4 |
| 8 | g.143728391T>G | CA372468687 | FAM83H | c.1070A>C (p.Glu357Ala) c.1673A>C (p.Glu558Ala) c.250A>C c.1127A>C (p.Glu376Ala) c.1088A>C (p.Glu363Ala) c.1391A>C (p.Glu464Ala) c.1238A>C (p.Glu413Ala) | |
| 8 | g.143728392C>A | CA372468690 | FAM83H | c.1069G>T (p.Glu357Ter) c.1672G>T (p.Glu558Ter) c.249G>T c.1126G>T (p.Glu376Ter) c.1087G>T (p.Glu363Ter) c.1390G>T (p.Glu464Ter) c.1237G>T (p.Glu413Ter) | gnomAD v4 |
| 8 | g.143728392C= | CA1825940740 | FAM83H | c.1069G= (p.Glu357=) c.1672G= (p.Glu558=) c.249G= c.1126G= (p.Glu376=) c.1087G= (p.Glu363=) c.1390G= (p.Glu464=) c.1237G= (p.Glu413=) | |
| 8 | g.143728392C>G | CA372468688 | FAM83H | c.1069G>C (p.Glu357Gln) c.1672G>C (p.Glu558Gln) c.249G>C c.1126G>C (p.Glu376Gln) c.1087G>C (p.Glu363Gln) c.1390G>C (p.Glu464Gln) c.1237G>C (p.Glu413Gln) | dbSNP |
| 8 | g.143728392C>T | CA4917528 | FAM83H | c.1069G>A (p.Glu357Lys) c.1672G>A (p.Glu558Lys) c.249G>A c.1126G>A (p.Glu376Lys) c.1087G>A (p.Glu363Lys) c.1390G>A (p.Glu464Lys) c.1237G>A (p.Glu413Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728393_143728397dup | CA2688981005 | FAM83H | c.1065_1069dup (p.Glu357AlafsTer?) c.1668_1672dup (p.Glu558AlafsTer?) c.245_249dup c.1122_1126dup (p.Glu376AlafsTer?) c.1083_1087dup (p.Glu363AlafsTer?) c.1386_1390dup (p.Glu464AlafsTer?) c.1233_1237dup (p.Glu413AlafsTer?) | gnomAD v4 |
| 8 | g.143728393C>A | CA463519632 | FAM83H | c.1068G>T (p.Arg356=) c.1671G>T (p.Arg557=) c.248G>T c.1125G>T (p.Arg375=) c.1086G>T (p.Arg362=) c.1389G>T (p.Arg463=) c.1236G>T (p.Arg412=) | gnomAD v4 |
| 8 | g.143728393C>G | CA463519633 | FAM83H | c.1068G>C (p.Arg356=) c.1671G>C (p.Arg557=) c.248G>C c.1125G>C (p.Arg375=) c.1086G>C (p.Arg362=) c.1389G>C (p.Arg463=) c.1236G>C (p.Arg412=) | gnomAD v4 |
| 8 | g.143728393C>T | CA463519634 | FAM83H | c.1068G>A (p.Arg356=) c.1671G>A (p.Arg557=) c.248G>A c.1125G>A (p.Arg375=) c.1086G>A (p.Arg362=) c.1389G>A (p.Arg463=) c.1236G>A (p.Arg412=) | gnomAD v4 |
| 8 | g.143728394C>A | CA372468691 | FAM83H | c.1067G>T (p.Arg356Leu) c.1670G>T (p.Arg557Leu) c.247G>T c.1124G>T (p.Arg375Leu) c.1085G>T (p.Arg362Leu) c.1388G>T (p.Arg463Leu) c.1235G>T (p.Arg412Leu) | gnomAD v4 |
| 8 | g.143728394C= | CA1825940741 | FAM83H | c.1067G= (p.Arg356=) c.1670G= (p.Arg557=) c.247G= c.1124G= (p.Arg375=) c.1085G= (p.Arg362=) c.1388G= (p.Arg463=) c.1235G= (p.Arg412=) | |
| 8 | g.143728394C>G | CA372468692 | FAM83H | c.1067G>C (p.Arg356Pro) c.1670G>C (p.Arg557Pro) c.247G>C c.1124G>C (p.Arg375Pro) c.1085G>C (p.Arg362Pro) c.1388G>C (p.Arg463Pro) c.1235G>C (p.Arg412Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728394C>T | CA372468694 | FAM83H | c.1067G>A (p.Arg356Gln) c.1670G>A (p.Arg557Gln) c.247G>A c.1124G>A (p.Arg375Gln) c.1085G>A (p.Arg362Gln) c.1388G>A (p.Arg463Gln) c.1235G>A (p.Arg412Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728394_143728400delinsCGGCGGA | CA1825940742 | FAM83H | c.1061_1067delinsTCCGCCG (p.Phe354=) c.1664_1670delinsTCCGCCG (p.Phe555=) c.241_247delinsTCCGCCG c.1118_1124delinsTCCGCCG (p.Phe373=) c.1079_1085delinsTCCGCCG (p.Phe360=) c.1382_1388delinsTCCGCCG (p.Phe461=) c.1229_1235delinsTCCGCCG (p.Phe410=) | |
| 8 | g.143728395_143728404del | CA2688981014 | FAM83H | c.1058_1067del (p.Ala353GlyfsTer?) c.1661_1670del (p.Ala554GlyfsTer?) c.238_247del c.1115_1124del (p.Ala372GlyfsTer?) c.1076_1085del (p.Ala359GlyfsTer?) c.1379_1388del (p.Ala460GlyfsTer?) c.1226_1235del (p.Ala409GlyfsTer?) | gnomAD v4 |
| 8 | g.143728395G>A | CA372468695 | FAM83H | c.1066C>T (p.Arg356Trp) c.1669C>T (p.Arg557Trp) c.246C>T c.1123C>T (p.Arg375Trp) c.1084C>T (p.Arg362Trp) c.1387C>T (p.Arg463Trp) c.1234C>T (p.Arg412Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728395G>C | CA372468696 | FAM83H | c.1066C>G (p.Arg356Gly) c.1669C>G (p.Arg557Gly) c.246C>G c.1123C>G (p.Arg375Gly) c.1084C>G (p.Arg362Gly) c.1387C>G (p.Arg463Gly) c.1234C>G (p.Arg412Gly) | |
| 8 | g.143728395G= | CA1825940744 | FAM83H | c.1066C= (p.Arg356=) c.1669C= (p.Arg557=) c.246C= c.1123C= (p.Arg375=) c.1084C= (p.Arg362=) c.1387C= (p.Arg463=) c.1234C= (p.Arg412=) | |
| 8 | g.143728395G>T | CA463519635 | FAM83H | c.1066C>A (p.Arg356=) c.1669C>A (p.Arg557=) c.246C>A c.1123C>A (p.Arg375=) c.1084C>A (p.Arg362=) c.1387C>A (p.Arg463=) c.1234C>A (p.Arg412=) | gnomAD v4 |
| 8 | g.143728395_143728400del | CA1825940743 | FAM83H | c.1061_1066del (p.Phe354_Arg356delinsTrp) c.1664_1669del (p.Phe555_Arg557delinsTrp) c.241_246del c.1118_1123del (p.Phe373_Arg375delinsTrp) c.1079_1084del (p.Phe360_Arg362delinsTrp) c.1382_1387del (p.Phe461_Arg463delinsTrp) c.1229_1234del (p.Phe410_Arg412delinsTrp) | dbSNP |
| 8 | g.143728396G>A | CA463519636 | FAM83H | c.1065C>T (p.Arg355=) c.1668C>T (p.Arg556=) c.245C>T c.1122C>T (p.Arg374=) c.1083C>T (p.Arg361=) c.1386C>T (p.Arg462=) c.1233C>T (p.Arg411=) | |
| 8 | g.143728396G>C | CA463519637 | FAM83H | c.1065C>G (p.Arg355=) c.1668C>G (p.Arg556=) c.245C>G c.1122C>G (p.Arg374=) c.1083C>G (p.Arg361=) c.1386C>G (p.Arg462=) c.1233C>G (p.Arg411=) | |
| 8 | g.143728396G>T | CA463519638 | FAM83H | c.1065C>A (p.Arg355=) c.1668C>A (p.Arg556=) c.245C>A c.1122C>A (p.Arg374=) c.1083C>A (p.Arg361=) c.1386C>A (p.Arg462=) c.1233C>A (p.Arg411=) | |
| 8 | g.143728397C>A | CA372468697 | FAM83H | c.1064G>T (p.Arg355Leu) c.1667G>T (p.Arg556Leu) c.244G>T c.1121G>T (p.Arg374Leu) c.1082G>T (p.Arg361Leu) c.1385G>T (p.Arg462Leu) c.1232G>T (p.Arg411Leu) | gnomAD v4 |
| 8 | g.143728397C= | CA1825940745 | FAM83H | c.1064G= (p.Arg355=) c.1667G= (p.Arg556=) c.244G= c.1121G= (p.Arg374=) c.1082G= (p.Arg361=) c.1385G= (p.Arg462=) c.1232G= (p.Arg411=) | |
| 8 | g.143728397C>G | CA372468699 | FAM83H | c.1064G>C (p.Arg355Pro) c.1667G>C (p.Arg556Pro) c.244G>C c.1121G>C (p.Arg374Pro) c.1082G>C (p.Arg361Pro) c.1385G>C (p.Arg462Pro) c.1232G>C (p.Arg411Pro) | dbSNP gnomAD v4 |
| 8 | g.143728397C>T | CA372468700 | FAM83H | c.1064G>A (p.Arg355His) c.1667G>A (p.Arg556His) c.244G>A c.1121G>A (p.Arg374His) c.1082G>A (p.Arg361His) c.1385G>A (p.Arg462His) c.1232G>A (p.Arg411His) | gnomAD v4 |