| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143728214_143728291del | CA1120207102 | FAM83H | c.1179_1256del (p.Arg394_Ala419del) c.1782_1859del (p.Arg595_Ala620del) c.359_436del c.1236_1313del (p.Arg413_Ala438del) c.1197_1274del (p.Arg400_Ala425del) c.1500_1577del (p.Arg501_Ala526del) c.1347_1424del (p.Arg450_Ala475del) | gnomAD v3 gnomAD v4 |
| 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.143728262C>A | CA372468168 | FAM83H | c.1199G>T (p.Arg400Leu) c.1802G>T (p.Arg601Leu) c.379G>T c.1256G>T (p.Arg419Leu) c.1217G>T (p.Arg406Leu) c.1520G>T (p.Arg507Leu) c.1367G>T (p.Arg456Leu) | gnomAD v4 |
| 8 | g.143728262C= | CA1825940651 | FAM83H | c.1199G= (p.Arg400=) c.1802G= (p.Arg601=) c.379G= c.1256G= (p.Arg419=) c.1217G= (p.Arg406=) c.1520G= (p.Arg507=) c.1367G= (p.Arg456=) | |
| 8 | g.143728262C>G | CA372468169 | FAM83H | c.1199G>C (p.Arg400Pro) c.1802G>C (p.Arg601Pro) c.379G>C c.1256G>C (p.Arg419Pro) c.1217G>C (p.Arg406Pro) c.1520G>C (p.Arg507Pro) c.1367G>C (p.Arg456Pro) | |
| 8 | g.143728262C>T | CA4917509 | FAM83H | c.1199G>A (p.Arg400Gln) c.1802G>A (p.Arg601Gln) c.379G>A c.1256G>A (p.Arg419Gln) c.1217G>A (p.Arg406Gln) c.1520G>A (p.Arg507Gln) c.1367G>A (p.Arg456Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728263G>A | CA372468179 | FAM83H | c.1198C>T (p.Arg400Trp) c.1801C>T (p.Arg601Trp) c.378C>T c.1255C>T (p.Arg419Trp) c.1216C>T (p.Arg406Trp) c.1519C>T (p.Arg507Trp) c.1366C>T (p.Arg456Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728263G>C | CA372468181 | FAM83H | c.1198C>G (p.Arg400Gly) c.1801C>G (p.Arg601Gly) c.378C>G c.1255C>G (p.Arg419Gly) c.1216C>G (p.Arg406Gly) c.1519C>G (p.Arg507Gly) c.1366C>G (p.Arg456Gly) | |
| 8 | g.143728263G= | CA1825940652 | FAM83H | c.1198C= (p.Arg400=) c.1801C= (p.Arg601=) c.378C= c.1255C= (p.Arg419=) c.1216C= (p.Arg406=) c.1519C= (p.Arg507=) c.1366C= (p.Arg456=) | |
| 8 | g.143728263G>T | CA463519949 | FAM83H | c.1198C>A (p.Arg400=) c.1801C>A (p.Arg601=) c.378C>A c.1255C>A (p.Arg419=) c.1216C>A (p.Arg406=) c.1519C>A (p.Arg507=) c.1366C>A (p.Arg456=) | gnomAD v4 |
| 8 | g.143728263_143728264delinsGC | CA1825940653 | FAM83H | c.1197_1198delinsGC (p.Ala399=) c.1800_1801delinsGC (p.Ala600=) c.377_378delinsGC c.1254_1255delinsGC (p.Ala418=) c.1215_1216delinsGC (p.Ala405=) c.1518_1519delinsGC (p.Ala506=) c.1365_1366delinsGC (p.Ala455=) | |
| 8 | g.143728264del | CA1825940654 | FAM83H | c.1197del (p.Arg400GlyfsTer?) c.1800del (p.Arg601GlyfsTer?) c.377del c.1254del (p.Arg419GlyfsTer?) c.1215del (p.Arg406GlyfsTer?) c.1518del (p.Arg507GlyfsTer?) c.1365del (p.Arg456GlyfsTer?) | dbSNP |
| 8 | g.143728264C>A | CA463519960 | FAM83H | c.1197G>T (p.Ala399=) c.1800G>T (p.Ala600=) c.377G>T c.1254G>T (p.Ala418=) c.1215G>T (p.Ala405=) c.1518G>T (p.Ala506=) c.1365G>T (p.Ala455=) | gnomAD v4 |
| 8 | g.143728264C= | CA1825940655 | FAM83H | c.1197G= (p.Ala399=) c.1800G= (p.Ala600=) c.377G= c.1254G= (p.Ala418=) c.1215G= (p.Ala405=) c.1518G= (p.Ala506=) c.1365G= (p.Ala455=) | |
| 8 | g.143728264C>G | CA463519958 | FAM83H | c.1197G>C (p.Ala399=) c.1800G>C (p.Ala600=) c.377G>C c.1254G>C (p.Ala418=) c.1215G>C (p.Ala405=) c.1518G>C (p.Ala506=) c.1365G>C (p.Ala455=) | dbSNP |
| 8 | g.143728264C>T | CA463519955 | FAM83H | c.1197G>A (p.Ala399=) c.1800G>A (p.Ala600=) c.377G>A c.1254G>A (p.Ala418=) c.1215G>A (p.Ala405=) c.1518G>A (p.Ala506=) c.1365G>A (p.Ala455=) | gnomAD v4 |
| 8 | g.143728265G>A | CA372468184 | FAM83H | c.1196C>T (p.Ala399Val) c.1799C>T (p.Ala600Val) c.376C>T c.1253C>T (p.Ala418Val) c.1214C>T (p.Ala405Val) c.1517C>T (p.Ala506Val) c.1364C>T (p.Ala455Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728265G>C | CA372468187 | FAM83H | c.1196C>G (p.Ala399Gly) c.1799C>G (p.Ala600Gly) c.376C>G c.1253C>G (p.Ala418Gly) c.1214C>G (p.Ala405Gly) c.1517C>G (p.Ala506Gly) c.1364C>G (p.Ala455Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728265G= | CA1825940656 | FAM83H | c.1196C= (p.Ala399=) c.1799C= (p.Ala600=) c.376C= c.1253C= (p.Ala418=) c.1214C= (p.Ala405=) c.1517C= (p.Ala506=) c.1364C= (p.Ala455=) | |
| 8 | g.143728265G>T | CA372468189 | FAM83H | c.1196C>A (p.Ala399Glu) c.1799C>A (p.Ala600Glu) c.376C>A c.1253C>A (p.Ala418Glu) c.1214C>A (p.Ala405Glu) c.1517C>A (p.Ala506Glu) c.1364C>A (p.Ala455Glu) | gnomAD v4 |
| 8 | g.143728266C>A | CA372468192 | FAM83H | c.1195G>T (p.Ala399Ser) c.1798G>T (p.Ala600Ser) c.375G>T c.1252G>T (p.Ala418Ser) c.1213G>T (p.Ala405Ser) c.1516G>T (p.Ala506Ser) c.1363G>T (p.Ala455Ser) | gnomAD v4 |
| 8 | g.143728266C>G | CA372468191 | FAM83H | c.1195G>C (p.Ala399Pro) c.1798G>C (p.Ala600Pro) c.375G>C c.1252G>C (p.Ala418Pro) c.1213G>C (p.Ala405Pro) c.1516G>C (p.Ala506Pro) c.1363G>C (p.Ala455Pro) | |
| 8 | g.143728266C>T | CA372468190 | FAM83H | c.1195G>A (p.Ala399Thr) c.1798G>A (p.Ala600Thr) c.375G>A c.1252G>A (p.Ala418Thr) c.1213G>A (p.Ala405Thr) c.1516G>A (p.Ala506Thr) c.1363G>A (p.Ala455Thr) | COSMIC |
| 8 | g.143728267C>A | CA372468196 | FAM83H | c.1194G>T (p.Gln398His) c.1797G>T (p.Gln599His) c.374G>T c.1251G>T (p.Gln417His) c.1212G>T (p.Gln404His) c.1515G>T (p.Gln505His) c.1362G>T (p.Gln454His) | gnomAD v4 |
| 8 | g.143728267C>G | CA372468193 | FAM83H | c.1194G>C (p.Gln398His) c.1797G>C (p.Gln599His) c.374G>C c.1251G>C (p.Gln417His) c.1212G>C (p.Gln404His) c.1515G>C (p.Gln505His) c.1362G>C (p.Gln454His) | |
| 8 | g.143728267C>T | CA463519964 | FAM83H | c.1194G>A (p.Gln398=) c.1797G>A (p.Gln599=) c.374G>A c.1251G>A (p.Gln417=) c.1212G>A (p.Gln404=) c.1515G>A (p.Gln505=) c.1362G>A (p.Gln454=) | |
| 8 | g.143728268T>A | CA372468198 | FAM83H | c.1193A>T (p.Gln398Leu) c.1796A>T (p.Gln599Leu) c.373A>T c.1250A>T (p.Gln417Leu) c.1211A>T (p.Gln404Leu) c.1514A>T (p.Gln505Leu) c.1361A>T (p.Gln454Leu) | |
| 8 | g.143728268T>C | CA372468202 | FAM83H | c.1193A>G (p.Gln398Arg) c.1796A>G (p.Gln599Arg) c.373A>G c.1250A>G (p.Gln417Arg) c.1211A>G (p.Gln404Arg) c.1514A>G (p.Gln505Arg) c.1361A>G (p.Gln454Arg) | gnomAD v4 |
| 8 | g.143728268T>G | CA372468204 | FAM83H | c.1193A>C (p.Gln398Pro) c.1796A>C (p.Gln599Pro) c.373A>C c.1250A>C (p.Gln417Pro) c.1211A>C (p.Gln404Pro) c.1514A>C (p.Gln505Pro) c.1361A>C (p.Gln454Pro) | |
| 8 | g.143728268_143728269delinsTG | CA1825940657 | FAM83H | c.1192_1193delinsCA (p.Gln398=) c.1795_1796delinsCA (p.Gln599=) c.372_373delinsCA c.1249_1250delinsCA (p.Gln417=) c.1210_1211delinsCA (p.Gln404=) c.1513_1514delinsCA (p.Gln505=) c.1360_1361delinsCA (p.Gln454=) | |
| 8 | g.143728269G>A | CA114493 | FAM83H | c.1192C>T (p.Gln398Ter) c.1795C>T (p.Gln599Ter) c.372C>T c.1249C>T (p.Gln417Ter) c.1210C>T (p.Gln404Ter) c.1513C>T (p.Gln505Ter) c.1360C>T (p.Gln454Ter) | ClinVar dbSNP |
| 8 | g.143728269G>C | CA372468207 | FAM83H | c.1192C>G (p.Gln398Glu) c.1795C>G (p.Gln599Glu) c.372C>G c.1249C>G (p.Gln417Glu) c.1210C>G (p.Gln404Glu) c.1513C>G (p.Gln505Glu) c.1360C>G (p.Gln454Glu) | |
| 8 | g.143728269G= | CA1825940658 | FAM83H | c.1192C= (p.Gln398=) c.1795C= (p.Gln599=) c.372C= c.1249C= (p.Gln417=) c.1210C= (p.Gln404=) c.1513C= (p.Gln505=) c.1360C= (p.Gln454=) | |
| 8 | g.143728269G>T | CA372468209 | FAM83H | c.1192C>A (p.Gln398Lys) c.1795C>A (p.Gln599Lys) c.372C>A c.1249C>A (p.Gln417Lys) c.1210C>A (p.Gln404Lys) c.1513C>A (p.Gln505Lys) c.1360C>A (p.Gln454Lys) | gnomAD v4 |
| 8 | g.143728270del | CA1120207161 | FAM83H | c.1192del (p.Gln398ArgfsTer?) c.1795del (p.Gln599ArgfsTer?) c.372del c.1249del (p.Gln417ArgfsTer?) c.1210del (p.Gln404ArgfsTer?) c.1513del (p.Gln505ArgfsTer?) c.1360del (p.Gln454ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728270G>A | CA463519969 | FAM83H | c.1191C>T (p.Phe397=) c.1794C>T (p.Phe598=) c.371C>T c.1248C>T (p.Phe416=) c.1209C>T (p.Phe403=) c.1512C>T (p.Phe504=) c.1359C>T (p.Phe453=) | |
| 8 | g.143728270G>C | CA372468214 | FAM83H | c.1191C>G (p.Phe397Leu) c.1794C>G (p.Phe598Leu) c.371C>G c.1248C>G (p.Phe416Leu) c.1209C>G (p.Phe403Leu) c.1512C>G (p.Phe504Leu) c.1359C>G (p.Phe453Leu) | gnomAD v4 |
| 8 | g.143728270G>T | CA372468217 | FAM83H | c.1191C>A (p.Phe397Leu) c.1794C>A (p.Phe598Leu) c.371C>A c.1248C>A (p.Phe416Leu) c.1209C>A (p.Phe403Leu) c.1512C>A (p.Phe504Leu) c.1359C>A (p.Phe453Leu) | |
| 8 | g.143728271A>C | CA372468220 | FAM83H | c.1190T>G (p.Phe397Cys) c.1793T>G (p.Phe598Cys) c.370T>G c.1247T>G (p.Phe416Cys) c.1208T>G (p.Phe403Cys) c.1511T>G (p.Phe504Cys) c.1358T>G (p.Phe453Cys) | |
| 8 | g.143728271A>G | CA372468223 | FAM83H | c.1190T>C (p.Phe397Ser) c.1793T>C (p.Phe598Ser) c.370T>C c.1247T>C (p.Phe416Ser) c.1208T>C (p.Phe403Ser) c.1511T>C (p.Phe504Ser) c.1358T>C (p.Phe453Ser) | gnomAD v4 |
| 8 | g.143728271A>T | CA372468225 | FAM83H | c.1190T>A (p.Phe397Tyr) c.1793T>A (p.Phe598Tyr) c.370T>A c.1247T>A (p.Phe416Tyr) c.1208T>A (p.Phe403Tyr) c.1511T>A (p.Phe504Tyr) c.1358T>A (p.Phe453Tyr) | |
| 8 | g.143728272A>C | CA372468227 | FAM83H | c.1189T>G (p.Phe397Val) c.1792T>G (p.Phe598Val) c.369T>G c.1246T>G (p.Phe416Val) c.1207T>G (p.Phe403Val) c.1510T>G (p.Phe504Val) c.1357T>G (p.Phe453Val) | |
| 8 | g.143728272A>G | CA372468229 | FAM83H | c.1189T>C (p.Phe397Leu) c.1792T>C (p.Phe598Leu) c.369T>C c.1246T>C (p.Phe416Leu) c.1207T>C (p.Phe403Leu) c.1510T>C (p.Phe504Leu) c.1357T>C (p.Phe453Leu) | gnomAD v4 |
| 8 | g.143728272A>T | CA372468232 | FAM83H | c.1189T>A (p.Phe397Ile) c.1792T>A (p.Phe598Ile) c.369T>A c.1246T>A (p.Phe416Ile) c.1207T>A (p.Phe403Ile) c.1510T>A (p.Phe504Ile) c.1357T>A (p.Phe453Ile) | |
| 8 | g.143728273G>A | CA463519981 | FAM83H | c.1188C>T (p.Phe396=) c.1791C>T (p.Phe597=) c.368C>T c.1245C>T (p.Phe415=) c.1206C>T (p.Phe402=) c.1509C>T (p.Phe503=) c.1356C>T (p.Phe452=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728273G>C | CA372468234 | FAM83H | c.1188C>G (p.Phe396Leu) c.1791C>G (p.Phe597Leu) c.368C>G c.1245C>G (p.Phe415Leu) c.1206C>G (p.Phe402Leu) c.1509C>G (p.Phe503Leu) c.1356C>G (p.Phe452Leu) | |
| 8 | g.143728273G= | CA1825940659 | FAM83H | c.1188C= (p.Phe396=) c.1791C= (p.Phe597=) c.368C= c.1245C= (p.Phe415=) c.1206C= (p.Phe402=) c.1509C= (p.Phe503=) c.1356C= (p.Phe452=) | |
| 8 | g.143728273G>T | CA372468236 | FAM83H | c.1188C>A (p.Phe396Leu) c.1791C>A (p.Phe597Leu) c.368C>A c.1245C>A (p.Phe415Leu) c.1206C>A (p.Phe402Leu) c.1509C>A (p.Phe503Leu) c.1356C>A (p.Phe452Leu) | gnomAD v4 |
| 8 | g.143728274A= | CA1825940660 | FAM83H | c.1187T= (p.Phe396=) c.1790T= (p.Phe597=) c.367T= c.1244T= (p.Phe415=) c.1205T= (p.Phe402=) c.1508T= (p.Phe503=) c.1355T= (p.Phe452=) | |
| 8 | g.143728274A>C | CA372468238 | FAM83H | c.1187T>G (p.Phe396Cys) c.1790T>G (p.Phe597Cys) c.367T>G c.1244T>G (p.Phe415Cys) c.1205T>G (p.Phe402Cys) c.1508T>G (p.Phe503Cys) c.1355T>G (p.Phe452Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728274A>G | CA372468241 | FAM83H | c.1187T>C (p.Phe396Ser) c.1790T>C (p.Phe597Ser) c.367T>C c.1244T>C (p.Phe415Ser) c.1205T>C (p.Phe402Ser) c.1508T>C (p.Phe503Ser) c.1355T>C (p.Phe452Ser) | |
| 8 | g.143728274A>T | CA372468244 | FAM83H | c.1187T>A (p.Phe396Tyr) c.1790T>A (p.Phe597Tyr) c.367T>A c.1244T>A (p.Phe415Tyr) c.1205T>A (p.Phe402Tyr) c.1508T>A (p.Phe503Tyr) c.1355T>A (p.Phe452Tyr) | gnomAD v4 |
| 8 | g.143728275del | CA2688980783 | FAM83H | c.1187del (p.Phe396SerfsTer?) c.1790del (p.Phe597SerfsTer?) c.367del c.1244del (p.Phe415SerfsTer?) c.1205del (p.Phe402SerfsTer?) c.1508del (p.Phe503SerfsTer?) c.1355del (p.Phe452SerfsTer?) | gnomAD v4 |
| 8 | g.143728275A= | CA1825940661 | FAM83H | c.1186T= (p.Phe396=) c.1789T= (p.Phe597=) c.366T= c.1243T= (p.Phe415=) c.1204T= (p.Phe402=) c.1507T= (p.Phe503=) c.1354T= (p.Phe452=) | |
| 8 | g.143728275A>C | CA372468245 | FAM83H | c.1186T>G (p.Phe396Val) c.1789T>G (p.Phe597Val) c.366T>G c.1243T>G (p.Phe415Val) c.1204T>G (p.Phe402Val) c.1507T>G (p.Phe503Val) c.1354T>G (p.Phe452Val) | gnomAD v4 |
| 8 | g.143728275A>G | CA372468246 | FAM83H | c.1186T>C (p.Phe396Leu) c.1789T>C (p.Phe597Leu) c.366T>C c.1243T>C (p.Phe415Leu) c.1204T>C (p.Phe402Leu) c.1507T>C (p.Phe503Leu) c.1354T>C (p.Phe452Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.143728275A>T | CA372468247 | FAM83H | c.1186T>A (p.Phe396Ile) c.1789T>A (p.Phe597Ile) c.366T>A c.1243T>A (p.Phe415Ile) c.1204T>A (p.Phe402Ile) c.1507T>A (p.Phe503Ile) c.1354T>A (p.Phe452Ile) | gnomAD v4 |
| 8 | g.143728276G>A | CA4917510 | FAM83H | c.1185C>T (p.Gly395=) c.1788C>T (p.Gly596=) c.365C>T c.1242C>T (p.Gly414=) c.1203C>T (p.Gly401=) c.1506C>T (p.Gly502=) c.1353C>T (p.Gly451=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728276G>C | CA463519991 | FAM83H | c.1185C>G (p.Gly395=) c.1788C>G (p.Gly596=) c.365C>G c.1242C>G (p.Gly414=) c.1203C>G (p.Gly401=) c.1506C>G (p.Gly502=) c.1353C>G (p.Gly451=) | |
| 8 | g.143728276G= | CA1825940662 | FAM83H | c.1185C= (p.Gly395=) c.1788C= (p.Gly596=) c.365C= c.1242C= (p.Gly414=) c.1203C= (p.Gly401=) c.1506C= (p.Gly502=) c.1353C= (p.Gly451=) | |
| 8 | g.143728276G>T | CA463519993 | FAM83H | c.1185C>A (p.Gly395=) c.1788C>A (p.Gly596=) c.365C>A c.1242C>A (p.Gly414=) c.1203C>A (p.Gly401=) c.1506C>A (p.Gly502=) c.1353C>A (p.Gly451=) | gnomAD v4 |
| 8 | g.143728277C>A | CA372468251 | FAM83H | c.1184G>T (p.Gly395Val) c.1787G>T (p.Gly596Val) c.364G>T c.1241G>T (p.Gly414Val) c.1202G>T (p.Gly401Val) c.1505G>T (p.Gly502Val) c.1352G>T (p.Gly451Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728277C= | CA1825940663 | FAM83H | c.1184G= (p.Gly395=) c.1787G= (p.Gly596=) c.364G= c.1241G= (p.Gly414=) c.1202G= (p.Gly401=) c.1505G= (p.Gly502=) c.1352G= (p.Gly451=) | |
| 8 | g.143728277C>G | CA372468253 | FAM83H | c.1184G>C (p.Gly395Ala) c.1787G>C (p.Gly596Ala) c.364G>C c.1241G>C (p.Gly414Ala) c.1202G>C (p.Gly401Ala) c.1505G>C (p.Gly502Ala) c.1352G>C (p.Gly451Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728277C>T | CA372468254 | FAM83H | c.1184G>A (p.Gly395Asp) c.1787G>A (p.Gly596Asp) c.364G>A c.1241G>A (p.Gly414Asp) c.1202G>A (p.Gly401Asp) c.1505G>A (p.Gly502Asp) c.1352G>A (p.Gly451Asp) | gnomAD v4 |
| 8 | g.143728280del | CA2688980791 | FAM83H | c.1184del (p.Gly395AlafsTer?) c.1787del (p.Gly596AlafsTer?) c.364del c.1241del (p.Gly414AlafsTer?) c.1202del (p.Gly401AlafsTer?) c.1505del (p.Gly502AlafsTer?) c.1352del (p.Gly451AlafsTer?) | gnomAD v4 |
| 8 | g.143728278C>A | CA372468257 | FAM83H | c.1183G>T (p.Gly395Cys) c.1786G>T (p.Gly596Cys) c.363G>T c.1240G>T (p.Gly414Cys) c.1201G>T (p.Gly401Cys) c.1504G>T (p.Gly502Cys) c.1351G>T (p.Gly451Cys) | gnomAD v4 |
| 8 | g.143728278C>G | CA372468260 | FAM83H | c.1183G>C (p.Gly395Arg) c.1786G>C (p.Gly596Arg) c.363G>C c.1240G>C (p.Gly414Arg) c.1201G>C (p.Gly401Arg) c.1504G>C (p.Gly502Arg) c.1351G>C (p.Gly451Arg) | |
| 8 | g.143728278C>T | CA372468262 | FAM83H | c.1183G>A (p.Gly395Ser) c.1786G>A (p.Gly596Ser) c.363G>A c.1240G>A (p.Gly414Ser) c.1201G>A (p.Gly401Ser) c.1504G>A (p.Gly502Ser) c.1351G>A (p.Gly451Ser) | |
| 8 | g.143728279C>A | CA463519997 | FAM83H | c.1182G>T (p.Arg394=) c.1785G>T (p.Arg595=) c.362G>T c.1239G>T (p.Arg413=) c.1200G>T (p.Arg400=) c.1503G>T (p.Arg501=) c.1350G>T (p.Arg450=) | |
| 8 | g.143728279C= | CA1825940664 | FAM83H | c.1182G= (p.Arg394=) c.1785G= (p.Arg595=) c.362G= c.1239G= (p.Arg413=) c.1200G= (p.Arg400=) c.1503G= (p.Arg501=) c.1350G= (p.Arg450=) | |
| 8 | g.143728279C>G | CA463520001 | FAM83H | c.1182G>C (p.Arg394=) c.1785G>C (p.Arg595=) c.362G>C c.1239G>C (p.Arg413=) c.1200G>C (p.Arg400=) c.1503G>C (p.Arg501=) c.1350G>C (p.Arg450=) | gnomAD v4 |
| 8 | g.143728279C>T | CA463520003 | FAM83H | c.1182G>A (p.Arg394=) c.1785G>A (p.Arg595=) c.362G>A c.1239G>A (p.Arg413=) c.1200G>A (p.Arg400=) c.1503G>A (p.Arg501=) c.1350G>A (p.Arg450=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728280C>A | CA372468266 | FAM83H | c.1181G>T (p.Arg394Leu) c.1784G>T (p.Arg595Leu) c.361G>T c.1238G>T (p.Arg413Leu) c.1199G>T (p.Arg400Leu) c.1502G>T (p.Arg501Leu) c.1349G>T (p.Arg450Leu) | gnomAD v4 |
| 8 | g.143728280C= | CA1825940665 | FAM83H | c.1181G= (p.Arg394=) c.1784G= (p.Arg595=) c.361G= c.1238G= (p.Arg413=) c.1199G= (p.Arg400=) c.1502G= (p.Arg501=) c.1349G= (p.Arg450=) | |
| 8 | g.143728280C>G | CA372468270 | FAM83H | c.1181G>C (p.Arg394Pro) c.1784G>C (p.Arg595Pro) c.361G>C c.1238G>C (p.Arg413Pro) c.1199G>C (p.Arg400Pro) c.1502G>C (p.Arg501Pro) c.1349G>C (p.Arg450Pro) | |
| 8 | g.143728280C>T | CA372468268 | FAM83H | c.1181G>A (p.Arg394Gln) c.1784G>A (p.Arg595Gln) c.361G>A c.1238G>A (p.Arg413Gln) c.1199G>A (p.Arg400Gln) c.1502G>A (p.Arg501Gln) c.1349G>A (p.Arg450Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728281G>A | CA372468273 | FAM83H | c.1180C>T (p.Arg394Trp) c.1783C>T (p.Arg595Trp) c.360C>T c.1237C>T (p.Arg413Trp) c.1198C>T (p.Arg400Trp) c.1501C>T (p.Arg501Trp) c.1348C>T (p.Arg450Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728281G>C | CA372468276 | FAM83H | c.1180C>G (p.Arg394Gly) c.1783C>G (p.Arg595Gly) c.360C>G c.1237C>G (p.Arg413Gly) c.1198C>G (p.Arg400Gly) c.1501C>G (p.Arg501Gly) c.1348C>G (p.Arg450Gly) | |
| 8 | g.143728281G= | CA1825940666 | FAM83H | c.1180C= (p.Arg394=) c.1783C= (p.Arg595=) c.360C= c.1237C= (p.Arg413=) c.1198C= (p.Arg400=) c.1501C= (p.Arg501=) c.1348C= (p.Arg450=) | |
| 8 | g.143728281G>T | CA463520011 | FAM83H | c.1180C>A (p.Arg394=) c.1783C>A (p.Arg595=) c.360C>A c.1237C>A (p.Arg413=) c.1198C>A (p.Arg400=) c.1501C>A (p.Arg501=) c.1348C>A (p.Arg450=) | gnomAD v4 |
| 8 | g.143728282C>A | CA463520013 | FAM83H | c.1179G>T (p.Ala393=) c.1782G>T (p.Ala594=) c.359G>T c.1236G>T (p.Ala412=) c.1197G>T (p.Ala399=) c.1500G>T (p.Ala500=) c.1347G>T (p.Ala449=) | gnomAD v4 |
| 8 | g.143728282C= | CA1825940667 | FAM83H | c.1179G= (p.Ala393=) c.1782G= (p.Ala594=) c.359G= c.1236G= (p.Ala412=) c.1197G= (p.Ala399=) c.1500G= (p.Ala500=) c.1347G= (p.Ala449=) | |
| 8 | g.143728282C>G | CA463520014 | FAM83H | c.1179G>C (p.Ala393=) c.1782G>C (p.Ala594=) c.359G>C c.1236G>C (p.Ala412=) c.1197G>C (p.Ala399=) c.1500G>C (p.Ala500=) c.1347G>C (p.Ala449=) | dbSNP |
| 8 | g.143728282C>T | CA463520016 | FAM83H | c.1179G>A (p.Ala393=) c.1782G>A (p.Ala594=) c.359G>A c.1236G>A (p.Ala412=) c.1197G>A (p.Ala399=) c.1500G>A (p.Ala500=) c.1347G>A (p.Ala449=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728283G>A | CA372468279 | FAM83H | c.1178C>T (p.Ala393Val) c.1781C>T (p.Ala594Val) c.358C>T c.1235C>T (p.Ala412Val) c.1196C>T (p.Ala399Val) c.1499C>T (p.Ala500Val) c.1346C>T (p.Ala449Val) | gnomAD v4 |
| 8 | g.143728283G>C | CA372468280 | FAM83H | c.1178C>G (p.Ala393Gly) c.1781C>G (p.Ala594Gly) c.358C>G c.1235C>G (p.Ala412Gly) c.1196C>G (p.Ala399Gly) c.1499C>G (p.Ala500Gly) c.1346C>G (p.Ala449Gly) | |
| 8 | g.143728283G>T | CA372468282 | FAM83H | c.1178C>A (p.Ala393Glu) c.1781C>A (p.Ala594Glu) c.358C>A c.1235C>A (p.Ala412Glu) c.1196C>A (p.Ala399Glu) c.1499C>A (p.Ala500Glu) c.1346C>A (p.Ala449Glu) | gnomAD v4 |
| 8 | g.143728284C>A | CA372468289 | FAM83H | c.1177G>T (p.Ala393Ser) c.1780G>T (p.Ala594Ser) c.357G>T c.1234G>T (p.Ala412Ser) c.1195G>T (p.Ala399Ser) c.1498G>T (p.Ala500Ser) c.1345G>T (p.Ala449Ser) | gnomAD v4 COSMIC |
| 8 | g.143728284C= | CA1825940668 | FAM83H | c.1177G= (p.Ala393=) c.1780G= (p.Ala594=) c.357G= c.1234G= (p.Ala412=) c.1195G= (p.Ala399=) c.1498G= (p.Ala500=) c.1345G= (p.Ala449=) | |
| 8 | g.143728284C>G | CA372468286 | FAM83H | c.1177G>C (p.Ala393Pro) c.1780G>C (p.Ala594Pro) c.357G>C c.1234G>C (p.Ala412Pro) c.1195G>C (p.Ala399Pro) c.1498G>C (p.Ala500Pro) c.1345G>C (p.Ala449Pro) | |
| 8 | g.143728284C>T | CA372468285 | FAM83H | c.1177G>A (p.Ala393Thr) c.1780G>A (p.Ala594Thr) c.357G>A c.1234G>A (p.Ala412Thr) c.1195G>A (p.Ala399Thr) c.1498G>A (p.Ala500Thr) c.1345G>A (p.Ala449Thr) | dbSNP gnomAD v4 |
| 8 | g.143728285G>A | CA463520030 | FAM83H | c.1176C>T (p.Gly392=) c.1779C>T (p.Gly593=) c.356C>T c.1233C>T (p.Gly411=) c.1194C>T (p.Gly398=) c.1497C>T (p.Gly499=) c.1344C>T (p.Gly448=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728285G>C | CA463520034 | FAM83H | c.1176C>G (p.Gly392=) c.1779C>G (p.Gly593=) c.356C>G c.1233C>G (p.Gly411=) c.1194C>G (p.Gly398=) c.1497C>G (p.Gly499=) c.1344C>G (p.Gly448=) | gnomAD v4 |
| 8 | g.143728285G= | CA1825940669 | FAM83H | c.1176C= (p.Gly392=) c.1779C= (p.Gly593=) c.356C= c.1233C= (p.Gly411=) c.1194C= (p.Gly398=) c.1497C= (p.Gly499=) c.1344C= (p.Gly448=) | |
| 8 | g.143728285G>T | CA463520035 | FAM83H | c.1176C>A (p.Gly392=) c.1779C>A (p.Gly593=) c.356C>A c.1233C>A (p.Gly411=) c.1194C>A (p.Gly398=) c.1497C>A (p.Gly499=) c.1344C>A (p.Gly448=) | gnomAD v4 |
| 8 | g.143728286C>A | CA372468292 | FAM83H | c.1175G>T (p.Gly392Val) c.1778G>T (p.Gly593Val) c.355G>T c.1232G>T (p.Gly411Val) c.1193G>T (p.Gly398Val) c.1496G>T (p.Gly499Val) c.1343G>T (p.Gly448Val) | dbSNP gnomAD v4 |
| 8 | g.143728286C= | CA1825940670 | FAM83H | c.1175G= (p.Gly392=) c.1778G= (p.Gly593=) c.355G= c.1232G= (p.Gly411=) c.1193G= (p.Gly398=) c.1496G= (p.Gly499=) c.1343G= (p.Gly448=) | |
| 8 | g.143728286C>G | CA372468294 | FAM83H | c.1175G>C (p.Gly392Ala) c.1778G>C (p.Gly593Ala) c.355G>C c.1232G>C (p.Gly411Ala) c.1193G>C (p.Gly398Ala) c.1496G>C (p.Gly499Ala) c.1343G>C (p.Gly448Ala) | ClinVar |
| 8 | g.143728286C>T | CA4917511 | FAM83H | c.1175G>A (p.Gly392Asp) c.1778G>A (p.Gly593Asp) c.355G>A c.1232G>A (p.Gly411Asp) c.1193G>A (p.Gly398Asp) c.1496G>A (p.Gly499Asp) c.1343G>A (p.Gly448Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728287C>A | CA372468296 | FAM83H | c.1174G>T (p.Gly392Cys) c.1777G>T (p.Gly593Cys) c.354G>T c.1231G>T (p.Gly411Cys) c.1192G>T (p.Gly398Cys) c.1495G>T (p.Gly499Cys) c.1342G>T (p.Gly448Cys) | gnomAD v4 |
| 8 | g.143728287C= | CA1825940671 | FAM83H | c.1174G= (p.Gly392=) c.1777G= (p.Gly593=) c.354G= c.1231G= (p.Gly411=) c.1192G= (p.Gly398=) c.1495G= (p.Gly499=) c.1342G= (p.Gly448=) | |
| 8 | g.143728287C>G | CA372468298 | FAM83H | c.1174G>C (p.Gly392Arg) c.1777G>C (p.Gly593Arg) c.354G>C c.1231G>C (p.Gly411Arg) c.1192G>C (p.Gly398Arg) c.1495G>C (p.Gly499Arg) c.1342G>C (p.Gly448Arg) | |
| 8 | g.143728287C>T | CA372468299 | FAM83H | c.1174G>A (p.Gly392Ser) c.1777G>A (p.Gly593Ser) c.354G>A c.1231G>A (p.Gly411Ser) c.1192G>A (p.Gly398Ser) c.1495G>A (p.Gly499Ser) c.1342G>A (p.Gly448Ser) | |
| 8 | g.143728288C>A | CA463520040 | FAM83H | c.1173G>T (p.Ala391=) c.1776G>T (p.Ala592=) c.353G>T c.1230G>T (p.Ala410=) c.1191G>T (p.Ala397=) c.1494G>T (p.Ala498=) c.1341G>T (p.Ala447=) | gnomAD v4 |
| 8 | g.143728288C= | CA1825940672 | FAM83H | c.1173G= (p.Ala391=) c.1776G= (p.Ala592=) c.353G= c.1230G= (p.Ala410=) c.1191G= (p.Ala397=) c.1494G= (p.Ala498=) c.1341G= (p.Ala447=) | |
| 8 | g.143728288C>G | CA463520043 | FAM83H | c.1173G>C (p.Ala391=) c.1776G>C (p.Ala592=) c.353G>C c.1230G>C (p.Ala410=) c.1191G>C (p.Ala397=) c.1494G>C (p.Ala498=) c.1341G>C (p.Ala447=) | gnomAD v4 |
| 8 | g.143728288C>T | CA463520042 | FAM83H | c.1173G>A (p.Ala391=) c.1776G>A (p.Ala592=) c.353G>A c.1230G>A (p.Ala410=) c.1191G>A (p.Ala397=) c.1494G>A (p.Ala498=) c.1341G>A (p.Ala447=) | dbSNP 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.143728289G>A | CA372468302 | FAM83H | c.1172C>T (p.Ala391Val) c.1775C>T (p.Ala592Val) c.352C>T c.1229C>T (p.Ala410Val) c.1190C>T (p.Ala397Val) c.1493C>T (p.Ala498Val) c.1340C>T (p.Ala447Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728289G>C | CA4917512 | FAM83H | c.1172C>G (p.Ala391Gly) c.1775C>G (p.Ala592Gly) c.352C>G c.1229C>G (p.Ala410Gly) c.1190C>G (p.Ala397Gly) c.1493C>G (p.Ala498Gly) c.1340C>G (p.Ala447Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728289G= | CA1825940673 | FAM83H | c.1172C= (p.Ala391=) c.1775C= (p.Ala592=) c.352C= c.1229C= (p.Ala410=) c.1190C= (p.Ala397=) c.1493C= (p.Ala498=) c.1340C= (p.Ala447=) | |
| 8 | g.143728289G>T | CA372468305 | FAM83H | c.1172C>A (p.Ala391Glu) c.1775C>A (p.Ala592Glu) c.352C>A c.1229C>A (p.Ala410Glu) c.1190C>A (p.Ala397Glu) c.1493C>A (p.Ala498Glu) c.1340C>A (p.Ala447Glu) | gnomAD v4 |
| 8 | g.143728290C>A | CA372468307 | FAM83H | c.1171G>T (p.Ala391Ser) c.1774G>T (p.Ala592Ser) c.351G>T c.1228G>T (p.Ala410Ser) c.1189G>T (p.Ala397Ser) c.1492G>T (p.Ala498Ser) c.1339G>T (p.Ala447Ser) | gnomAD v4 |
| 8 | g.143728290C>G | CA372468310 | FAM83H | c.1171G>C (p.Ala391Pro) c.1774G>C (p.Ala592Pro) c.351G>C c.1228G>C (p.Ala410Pro) c.1189G>C (p.Ala397Pro) c.1492G>C (p.Ala498Pro) c.1339G>C (p.Ala447Pro) | |
| 8 | g.143728290C>T | CA372468312 | FAM83H | c.1171G>A (p.Ala391Thr) c.1774G>A (p.Ala592Thr) c.351G>A c.1228G>A (p.Ala410Thr) c.1189G>A (p.Ala397Thr) c.1492G>A (p.Ala498Thr) c.1339G>A (p.Ala447Thr) | gnomAD v4 |
| 8 | g.143728291G>A | CA463520052 | FAM83H | c.1170C>T (p.Leu390=) c.1773C>T (p.Leu591=) c.350C>T c.1227C>T (p.Leu409=) c.1188C>T (p.Leu396=) c.1491C>T (p.Leu497=) c.1338C>T (p.Leu446=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728291G>C | CA463520053 | FAM83H | c.1170C>G (p.Leu390=) c.1773C>G (p.Leu591=) c.350C>G c.1227C>G (p.Leu409=) c.1188C>G (p.Leu396=) c.1491C>G (p.Leu497=) c.1338C>G (p.Leu446=) | |
| 8 | g.143728291G= | CA1825940674 | FAM83H | c.1170C= (p.Leu390=) c.1773C= (p.Leu591=) c.350C= c.1227C= (p.Leu409=) c.1188C= (p.Leu396=) c.1491C= (p.Leu497=) c.1338C= (p.Leu446=) | |
| 8 | g.143728291G>T | CA463520054 | FAM83H | c.1170C>A (p.Leu390=) c.1773C>A (p.Leu591=) c.350C>A c.1227C>A (p.Leu409=) c.1188C>A (p.Leu396=) c.1491C>A (p.Leu497=) c.1338C>A (p.Leu446=) | |
| 8 | g.143728292A>C | CA372468313 | FAM83H | c.1169T>G (p.Leu390Arg) c.1772T>G (p.Leu591Arg) c.349T>G c.1226T>G (p.Leu409Arg) c.1187T>G (p.Leu396Arg) c.1490T>G (p.Leu497Arg) c.1337T>G (p.Leu446Arg) | |
| 8 | g.143728292A>G | CA372468314 | FAM83H | c.1169T>C (p.Leu390Pro) c.1772T>C (p.Leu591Pro) c.349T>C c.1226T>C (p.Leu409Pro) c.1187T>C (p.Leu396Pro) c.1490T>C (p.Leu497Pro) c.1337T>C (p.Leu446Pro) | |
| 8 | g.143728292A>T | CA372468315 | FAM83H | c.1169T>A (p.Leu390His) c.1772T>A (p.Leu591His) c.349T>A c.1226T>A (p.Leu409His) c.1187T>A (p.Leu396His) c.1490T>A (p.Leu497His) c.1337T>A (p.Leu446His) | gnomAD v4 |
| 8 | g.143728293G>A | CA372468316 | FAM83H | c.1168C>T (p.Leu390Phe) c.1771C>T (p.Leu591Phe) c.348C>T c.1225C>T (p.Leu409Phe) c.1186C>T (p.Leu396Phe) c.1489C>T (p.Leu497Phe) c.1336C>T (p.Leu446Phe) | dbSNP gnomAD v4 |
| 8 | g.143728293G>C | CA372468318 | FAM83H | c.1168C>G (p.Leu390Val) c.1771C>G (p.Leu591Val) c.348C>G c.1225C>G (p.Leu409Val) c.1186C>G (p.Leu396Val) c.1489C>G (p.Leu497Val) c.1336C>G (p.Leu446Val) | |
| 8 | g.143728293G= | CA1825940675 | FAM83H | c.1168C= (p.Leu390=) c.1771C= (p.Leu591=) c.348C= c.1225C= (p.Leu409=) c.1186C= (p.Leu396=) c.1489C= (p.Leu497=) c.1336C= (p.Leu446=) | |
| 8 | g.143728293G>T | CA372468319 | FAM83H | c.1168C>A (p.Leu390Ile) c.1771C>A (p.Leu591Ile) c.348C>A c.1225C>A (p.Leu409Ile) c.1186C>A (p.Leu396Ile) c.1489C>A (p.Leu497Ile) c.1336C>A (p.Leu446Ile) | |
| 8 | g.143728294C>A | CA372468320 | FAM83H | c.1167G>T (p.Glu389Asp) c.1770G>T (p.Glu590Asp) c.347G>T c.1224G>T (p.Glu408Asp) c.1185G>T (p.Glu395Asp) c.1488G>T (p.Glu496Asp) c.1335G>T (p.Glu445Asp) | gnomAD v4 |
| 8 | g.143728294C= | CA1825940676 | FAM83H | c.1167G= (p.Glu389=) c.1770G= (p.Glu590=) c.347G= c.1224G= (p.Glu408=) c.1185G= (p.Glu395=) c.1488G= (p.Glu496=) c.1335G= (p.Glu445=) | |
| 8 | g.143728294C>G | CA372468324 | FAM83H | c.1167G>C (p.Glu389Asp) c.1770G>C (p.Glu590Asp) c.347G>C c.1224G>C (p.Glu408Asp) c.1185G>C (p.Glu395Asp) c.1488G>C (p.Glu496Asp) c.1335G>C (p.Glu445Asp) | |
| 8 | g.143728294C>T | CA463520057 | FAM83H | c.1167G>A (p.Glu389=) c.1770G>A (p.Glu590=) c.347G>A c.1224G>A (p.Glu408=) c.1185G>A (p.Glu395=) c.1488G>A (p.Glu496=) c.1335G>A (p.Glu445=) | dbSNP gnomAD v4 |
| 8 | g.143728295T>A | CA372468331 | FAM83H | c.1166A>T (p.Glu389Val) c.1769A>T (p.Glu590Val) c.346A>T c.1223A>T (p.Glu408Val) c.1184A>T (p.Glu395Val) c.1487A>T (p.Glu496Val) c.1334A>T (p.Glu445Val) | |
| 8 | g.143728295T>C | CA372468328 | FAM83H | c.1166A>G (p.Glu389Gly) c.1769A>G (p.Glu590Gly) c.346A>G c.1223A>G (p.Glu408Gly) c.1184A>G (p.Glu395Gly) c.1487A>G (p.Glu496Gly) c.1334A>G (p.Glu445Gly) | dbSNP gnomAD v4 |
| 8 | g.143728295T>G | CA372468326 | FAM83H | c.1166A>C (p.Glu389Ala) c.1769A>C (p.Glu590Ala) c.346A>C c.1223A>C (p.Glu408Ala) c.1184A>C (p.Glu395Ala) c.1487A>C (p.Glu496Ala) c.1334A>C (p.Glu445Ala) | |
| 8 | g.143728295T= | CA1825940677 | FAM83H | c.1166A= (p.Glu389=) c.1769A= (p.Glu590=) c.346A= c.1223A= (p.Glu408=) c.1184A= (p.Glu395=) c.1487A= (p.Glu496=) c.1334A= (p.Glu445=) | |
| 8 | g.143728296C>A | CA372468333 | FAM83H | c.1165G>T (p.Glu389Ter) c.1768G>T (p.Glu590Ter) c.345G>T c.1222G>T (p.Glu408Ter) c.1183G>T (p.Glu395Ter) c.1486G>T (p.Glu496Ter) c.1333G>T (p.Glu445Ter) | dbSNP gnomAD v4 |
| 8 | g.143728296C= | CA1825940678 | FAM83H | c.1165G= (p.Glu389=) c.1768G= (p.Glu590=) c.345G= c.1222G= (p.Glu408=) c.1183G= (p.Glu395=) c.1486G= (p.Glu496=) c.1333G= (p.Glu445=) | |
| 8 | g.143728296C>G | CA372468334 | FAM83H | c.1165G>C (p.Glu389Gln) c.1768G>C (p.Glu590Gln) c.345G>C c.1222G>C (p.Glu408Gln) c.1183G>C (p.Glu395Gln) c.1486G>C (p.Glu496Gln) c.1333G>C (p.Glu445Gln) | |
| 8 | g.143728296C>T | CA372468336 | FAM83H | c.1165G>A (p.Glu389Lys) c.1768G>A (p.Glu590Lys) c.345G>A c.1222G>A (p.Glu408Lys) c.1183G>A (p.Glu395Lys) c.1486G>A (p.Glu496Lys) c.1333G>A (p.Glu445Lys) | 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) |