| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143728409_143728418delinsAGGAAGTGGC | CA1825940753 | FAM83H | c.1043_1052delinsGCCACTTCCT (p.Arg348=) c.1646_1655delinsGCCACTTCCT (p.Arg549=) c.223_232delinsGCCACTTCCT c.1100_1109delinsGCCACTTCCT (p.Arg367=) c.1061_1070delinsGCCACTTCCT (p.Arg354=) c.1364_1373delinsGCCACTTCCT (p.Arg455=) c.1211_1220delinsGCCACTTCCT (p.Arg404=) | |
| 8 | g.143728412_143728420del | CA1825940754 | FAM83H | c.1043_1051del (p.Arg348_Phe350del) c.1646_1654del (p.Arg549_Phe551del) c.223_231del c.1100_1108del (p.Arg367_Phe369del) c.1061_1069del (p.Arg354_Phe356del) c.1364_1372del (p.Arg455_Phe457del) c.1211_1219del (p.Arg404_Phe406del) | dbSNP |
| 8 | g.143728412A>C | CA372468743 | FAM83H | c.1049T>G (p.Phe350Cys) c.1652T>G (p.Phe551Cys) c.229T>G c.1106T>G (p.Phe369Cys) c.1067T>G (p.Phe356Cys) c.1370T>G (p.Phe457Cys) c.1217T>G (p.Phe406Cys) | |
| 8 | g.143728412A>G | CA372468745 | FAM83H | c.1049T>C (p.Phe350Ser) c.1652T>C (p.Phe551Ser) c.229T>C c.1106T>C (p.Phe369Ser) c.1067T>C (p.Phe356Ser) c.1370T>C (p.Phe457Ser) c.1217T>C (p.Phe406Ser) | |
| 8 | g.143728412A>T | CA372468746 | FAM83H | c.1049T>A (p.Phe350Tyr) c.1652T>A (p.Phe551Tyr) c.229T>A c.1106T>A (p.Phe369Tyr) c.1067T>A (p.Phe356Tyr) c.1370T>A (p.Phe457Tyr) c.1217T>A (p.Phe406Tyr) | |
| 8 | g.143728413A= | CA1825940757 | FAM83H | c.1048T= (p.Phe350=) c.1651T= (p.Phe551=) c.228T= c.1105T= (p.Phe369=) c.1066T= (p.Phe356=) c.1369T= (p.Phe457=) c.1216T= (p.Phe406=) | |
| 8 | g.143728413A>C | CA372468747 | FAM83H | c.1048T>G (p.Phe350Val) c.1651T>G (p.Phe551Val) c.228T>G c.1105T>G (p.Phe369Val) c.1066T>G (p.Phe356Val) c.1369T>G (p.Phe457Val) c.1216T>G (p.Phe406Val) | gnomAD v4 |
| 8 | g.143728413A>G | CA372468748 | FAM83H | c.1048T>C (p.Phe350Leu) c.1651T>C (p.Phe551Leu) c.228T>C c.1105T>C (p.Phe369Leu) c.1066T>C (p.Phe356Leu) c.1369T>C (p.Phe457Leu) c.1216T>C (p.Phe406Leu) | |
| 8 | g.143728413A>T | CA4917531 | FAM83H | c.1048T>A (p.Phe350Ile) c.1651T>A (p.Phe551Ile) c.228T>A c.1105T>A (p.Phe369Ile) c.1066T>A (p.Phe356Ile) c.1369T>A (p.Phe457Ile) c.1216T>A (p.Phe406Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728414G>A | CA4917532 | FAM83H | c.1047C>T (p.His349=) c.1650C>T (p.His550=) c.227C>T c.1104C>T (p.His368=) c.1065C>T (p.His355=) c.1368C>T (p.His456=) c.1215C>T (p.His405=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728414G>C | CA372468750 | FAM83H | c.1047C>G (p.His349Gln) c.1650C>G (p.His550Gln) c.227C>G c.1104C>G (p.His368Gln) c.1065C>G (p.His355Gln) c.1368C>G (p.His456Gln) c.1215C>G (p.His405Gln) | |
| 8 | g.143728414G= | CA1825940758 | FAM83H | c.1047C= (p.His349=) c.1650C= (p.His550=) c.227C= c.1104C= (p.His368=) c.1065C= (p.His355=) c.1368C= (p.His456=) c.1215C= (p.His405=) | |
| 8 | g.143728414G>T | CA372468752 | FAM83H | c.1047C>A (p.His349Gln) c.1650C>A (p.His550Gln) c.227C>A c.1104C>A (p.His368Gln) c.1065C>A (p.His355Gln) c.1368C>A (p.His456Gln) c.1215C>A (p.His405Gln) | |
| 8 | g.143728415T>A | CA372468753 | FAM83H | c.1046A>T (p.His349Leu) c.1649A>T (p.His550Leu) c.226A>T c.1103A>T (p.His368Leu) c.1064A>T (p.His355Leu) c.1367A>T (p.His456Leu) c.1214A>T (p.His405Leu) | dbSNP gnomAD v4 |
| 8 | g.143728415T>C | CA372468754 | FAM83H | c.1046A>G (p.His349Arg) c.1649A>G (p.His550Arg) c.226A>G c.1103A>G (p.His368Arg) c.1064A>G (p.His355Arg) c.1367A>G (p.His456Arg) c.1214A>G (p.His405Arg) | |
| 8 | g.143728415T>G | CA372468755 | FAM83H | c.1046A>C (p.His349Pro) c.1649A>C (p.His550Pro) c.226A>C c.1103A>C (p.His368Pro) c.1064A>C (p.His355Pro) c.1367A>C (p.His456Pro) c.1214A>C (p.His405Pro) | |
| 8 | g.143728415T= | CA1825940759 | FAM83H | c.1046A= (p.His349=) c.1649A= (p.His550=) c.226A= c.1103A= (p.His368=) c.1064A= (p.His355=) c.1367A= (p.His456=) c.1214A= (p.His405=) | |
| 8 | g.143728416G>A | CA372468757 | FAM83H | c.1045C>T (p.His349Tyr) c.1648C>T (p.His550Tyr) c.225C>T c.1102C>T (p.His368Tyr) c.1063C>T (p.His355Tyr) c.1366C>T (p.His456Tyr) c.1213C>T (p.His405Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728416G>C | CA372468759 | FAM83H | c.1045C>G (p.His349Asp) c.1648C>G (p.His550Asp) c.225C>G c.1102C>G (p.His368Asp) c.1063C>G (p.His355Asp) c.1366C>G (p.His456Asp) c.1213C>G (p.His405Asp) | |
| 8 | g.143728416G= | CA1825940760 | FAM83H | c.1045C= (p.His349=) c.1648C= (p.His550=) c.225C= c.1102C= (p.His368=) c.1063C= (p.His355=) c.1366C= (p.His456=) c.1213C= (p.His405=) | |
| 8 | g.143728416G>T | CA372468760 | FAM83H | c.1045C>A (p.His349Asn) c.1648C>A (p.His550Asn) c.225C>A c.1102C>A (p.His368Asn) c.1063C>A (p.His355Asn) c.1366C>A (p.His456Asn) c.1213C>A (p.His405Asn) | gnomAD v4 |
| 8 | g.143728417G>A | CA463519650 | FAM83H | c.1044C>T (p.Arg348=) c.1647C>T (p.Arg549=) c.224C>T c.1101C>T (p.Arg367=) c.1062C>T (p.Arg354=) c.1365C>T (p.Arg455=) c.1212C>T (p.Arg404=) | |
| 8 | g.143728417G>C | CA463519651 | FAM83H | c.1044C>G (p.Arg348=) c.1647C>G (p.Arg549=) c.224C>G c.1101C>G (p.Arg367=) c.1062C>G (p.Arg354=) c.1365C>G (p.Arg455=) c.1212C>G (p.Arg404=) | |
| 8 | g.143728417G>T | CA463519652 | FAM83H | c.1044C>A (p.Arg348=) c.1647C>A (p.Arg549=) c.224C>A c.1101C>A (p.Arg367=) c.1062C>A (p.Arg354=) c.1365C>A (p.Arg455=) c.1212C>A (p.Arg404=) | gnomAD v4 |
| 8 | g.143728418C>A | CA372468762 | FAM83H | c.1043G>T (p.Arg348Leu) c.1646G>T (p.Arg549Leu) c.223G>T c.1100G>T (p.Arg367Leu) c.1061G>T (p.Arg354Leu) c.1364G>T (p.Arg455Leu) c.1211G>T (p.Arg404Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728418C= | CA1825940761 | FAM83H | c.1043G= (p.Arg348=) c.1646G= (p.Arg549=) c.223G= c.1100G= (p.Arg367=) c.1061G= (p.Arg354=) c.1364G= (p.Arg455=) c.1211G= (p.Arg404=) | |
| 8 | g.143728418C>G | CA372468763 | FAM83H | c.1043G>C (p.Arg348Pro) c.1646G>C (p.Arg549Pro) c.223G>C c.1100G>C (p.Arg367Pro) c.1061G>C (p.Arg354Pro) c.1364G>C (p.Arg455Pro) c.1211G>C (p.Arg404Pro) | gnomAD v4 |
| 8 | g.143728418C>T | CA372468764 | FAM83H | c.1043G>A (p.Arg348His) c.1646G>A (p.Arg549His) c.223G>A c.1100G>A (p.Arg367His) c.1061G>A (p.Arg354His) c.1364G>A (p.Arg455His) c.1211G>A (p.Arg404His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728418_143728424delinsCGGTCCG | CA1825940762 | FAM83H | c.1037_1043delinsCGGACCG (p.Pro346=) c.1640_1646delinsCGGACCG (p.Pro547=) c.217_223delinsCGGACCG c.1094_1100delinsCGGACCG (p.Pro365=) c.1055_1061delinsCGGACCG (p.Pro352=) c.1358_1364delinsCGGACCG (p.Pro453=) c.1205_1211delinsCGGACCG (p.Pro402=) | |
| 8 | g.143728419G>A | CA4917533 | FAM83H | c.1042C>T (p.Arg348Cys) c.1645C>T (p.Arg549Cys) c.222C>T c.1099C>T (p.Arg367Cys) c.1060C>T (p.Arg354Cys) c.1363C>T (p.Arg455Cys) c.1210C>T (p.Arg404Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.143728419G>C | CA372468768 | FAM83H | c.1042C>G (p.Arg348Gly) c.1645C>G (p.Arg549Gly) c.222C>G c.1099C>G (p.Arg367Gly) c.1060C>G (p.Arg354Gly) c.1363C>G (p.Arg455Gly) c.1210C>G (p.Arg404Gly) | |
| 8 | g.143728419G= | CA1825940764 | FAM83H | c.1042C= (p.Arg348=) c.1645C= (p.Arg549=) c.222C= c.1099C= (p.Arg367=) c.1060C= (p.Arg354=) c.1363C= (p.Arg455=) c.1210C= (p.Arg404=) | |
| 8 | g.143728419G>T | CA372468769 | FAM83H | c.1042C>A (p.Arg348Ser) c.1645C>A (p.Arg549Ser) c.222C>A c.1099C>A (p.Arg367Ser) c.1060C>A (p.Arg354Ser) c.1363C>A (p.Arg455Ser) c.1210C>A (p.Arg404Ser) | gnomAD v4 |
| 8 | g.143728420dup | CA187605536 | FAM83H | c.1042dup (p.Arg348ProfsTer?) c.1645dup (p.Arg549ProfsTer?) c.222dup c.1099dup (p.Arg367ProfsTer?) c.1060dup (p.Arg354ProfsTer?) c.1363dup (p.Arg455ProfsTer?) c.1210dup (p.Arg404ProfsTer?) | dbSNP |
| 8 | g.143728423_143728428del | CA1825940763 | FAM83H | c.1037_1042del (p.Pro346_Asp347del) c.1640_1645del (p.Pro547_Asp548del) c.217_222del c.1094_1099del (p.Pro365_Asp366del) c.1055_1060del (p.Pro352_Asp353del) c.1358_1363del (p.Pro453_Asp454del) c.1205_1210del (p.Pro402_Asp403del) | dbSNP |
| 8 | g.143728420G>A | CA463519653 | FAM83H | c.1041C>T (p.Asp347=) c.1644C>T (p.Asp548=) c.221C>T c.1098C>T (p.Asp366=) c.1059C>T (p.Asp353=) c.1362C>T (p.Asp454=) c.1209C>T (p.Asp403=) | dbSNP gnomAD v4 |
| 8 | g.143728420G>C | CA372468771 | FAM83H | c.1041C>G (p.Asp347Glu) c.1644C>G (p.Asp548Glu) c.221C>G c.1098C>G (p.Asp366Glu) c.1059C>G (p.Asp353Glu) c.1362C>G (p.Asp454Glu) c.1209C>G (p.Asp403Glu) | gnomAD v4 |
| 8 | g.143728420G= | CA1825940765 | FAM83H | c.1041C= (p.Asp347=) c.1644C= (p.Asp548=) c.221C= c.1098C= (p.Asp366=) c.1059C= (p.Asp353=) c.1362C= (p.Asp454=) c.1209C= (p.Asp403=) | |
| 8 | g.143728420G>T | CA372468773 | FAM83H | c.1041C>A (p.Asp347Glu) c.1644C>A (p.Asp548Glu) c.221C>A c.1098C>A (p.Asp366Glu) c.1059C>A (p.Asp353Glu) c.1362C>A (p.Asp454Glu) c.1209C>A (p.Asp403Glu) | gnomAD v4 |
| 8 | g.143728421T>A | CA372468774 | FAM83H | c.1040A>T (p.Asp347Val) c.1643A>T (p.Asp548Val) c.220A>T c.1097A>T (p.Asp366Val) c.1058A>T (p.Asp353Val) c.1361A>T (p.Asp454Val) c.1208A>T (p.Asp403Val) | |
| 8 | g.143728421T>C | CA372468776 | FAM83H | c.1040A>G (p.Asp347Gly) c.1643A>G (p.Asp548Gly) c.220A>G c.1097A>G (p.Asp366Gly) c.1058A>G (p.Asp353Gly) c.1361A>G (p.Asp454Gly) c.1208A>G (p.Asp403Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728421T>G | CA187605540 | FAM83H | c.1040A>C (p.Asp347Ala) c.1643A>C (p.Asp548Ala) c.220A>C c.1097A>C (p.Asp366Ala) c.1058A>C (p.Asp353Ala) c.1361A>C (p.Asp454Ala) c.1208A>C (p.Asp403Ala) | dbSNP |
| 8 | g.143728421T= | CA1825940766 | FAM83H | c.1040A= (p.Asp347=) c.1643A= (p.Asp548=) c.220A= c.1097A= (p.Asp366=) c.1058A= (p.Asp353=) c.1361A= (p.Asp454=) c.1208A= (p.Asp403=) | |
| 8 | g.143728422C>A | CA372468778 | FAM83H | c.1039G>T (p.Asp347Tyr) c.1642G>T (p.Asp548Tyr) c.219G>T c.1096G>T (p.Asp366Tyr) c.1057G>T (p.Asp353Tyr) c.1360G>T (p.Asp454Tyr) c.1207G>T (p.Asp403Tyr) | gnomAD v4 |
| 8 | g.143728422C= | CA1825940767 | FAM83H | c.1039G= (p.Asp347=) c.1642G= (p.Asp548=) c.219G= c.1096G= (p.Asp366=) c.1057G= (p.Asp353=) c.1360G= (p.Asp454=) c.1207G= (p.Asp403=) | |
| 8 | g.143728422C>G | CA372468780 | FAM83H | c.1039G>C (p.Asp347His) c.1642G>C (p.Asp548His) c.219G>C c.1096G>C (p.Asp366His) c.1057G>C (p.Asp353His) c.1360G>C (p.Asp454His) c.1207G>C (p.Asp403His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728422C>T | CA372468781 | FAM83H | c.1039G>A (p.Asp347Asn) c.1642G>A (p.Asp548Asn) c.219G>A c.1096G>A (p.Asp366Asn) c.1057G>A (p.Asp353Asn) c.1360G>A (p.Asp454Asn) c.1207G>A (p.Asp403Asn) | dbSNP gnomAD v4 |
| 8 | g.143728423C>A | CA463519654 | FAM83H | c.1038G>T (p.Pro346=) c.1641G>T (p.Pro547=) c.218G>T c.1095G>T (p.Pro365=) c.1056G>T (p.Pro352=) c.1359G>T (p.Pro453=) c.1206G>T (p.Pro402=) | gnomAD v4 |
| 8 | g.143728423C>G | CA463519655 | FAM83H | c.1038G>C (p.Pro346=) c.1641G>C (p.Pro547=) c.218G>C c.1095G>C (p.Pro365=) c.1056G>C (p.Pro352=) c.1359G>C (p.Pro453=) c.1206G>C (p.Pro402=) | |
| 8 | g.143728423C>T | CA463519656 | FAM83H | c.1038G>A (p.Pro346=) c.1641G>A (p.Pro547=) c.218G>A c.1095G>A (p.Pro365=) c.1056G>A (p.Pro352=) c.1359G>A (p.Pro453=) c.1206G>A (p.Pro402=) | gnomAD v4 COSMIC |
| 8 | g.143728423_143728431del | CA2688981099 | FAM83H | c.1030_1038del (p.Leu344_Pro346del) c.1633_1641del (p.Leu545_Pro547del) c.210_218del c.1087_1095del (p.Leu363_Pro365del) c.1048_1056del (p.Leu350_Pro352del) c.1351_1359del (p.Leu451_Pro453del) c.1198_1206del (p.Leu400_Pro402del) | gnomAD v4 |
| 8 | g.143728424G>A | CA372468783 | FAM83H | c.1037C>T (p.Pro346Leu) c.1640C>T (p.Pro547Leu) c.217C>T c.1094C>T (p.Pro365Leu) c.1055C>T (p.Pro352Leu) c.1358C>T (p.Pro453Leu) c.1205C>T (p.Pro402Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728424G>C | CA372468785 | FAM83H | c.1037C>G (p.Pro346Arg) c.1640C>G (p.Pro547Arg) c.217C>G c.1094C>G (p.Pro365Arg) c.1055C>G (p.Pro352Arg) c.1358C>G (p.Pro453Arg) c.1205C>G (p.Pro402Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.143728424G= | CA1825940768 | FAM83H | c.1037C= (p.Pro346=) c.1640C= (p.Pro547=) c.217C= c.1094C= (p.Pro365=) c.1055C= (p.Pro352=) c.1358C= (p.Pro453=) c.1205C= (p.Pro402=) | |
| 8 | g.143728424G>T | CA4917534 | FAM83H | c.1037C>A (p.Pro346Gln) c.1640C>A (p.Pro547Gln) c.217C>A c.1094C>A (p.Pro365Gln) c.1055C>A (p.Pro352Gln) c.1358C>A (p.Pro453Gln) c.1205C>A (p.Pro402Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728425G>A | CA372468787 | FAM83H | c.1036C>T (p.Pro346Ser) c.1639C>T (p.Pro547Ser) c.216C>T c.1093C>T (p.Pro365Ser) c.1054C>T (p.Pro352Ser) c.1357C>T (p.Pro453Ser) c.1204C>T (p.Pro402Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728425G>C | CA372468788 | FAM83H | c.1036C>G (p.Pro346Ala) c.1639C>G (p.Pro547Ala) c.216C>G c.1093C>G (p.Pro365Ala) c.1054C>G (p.Pro352Ala) c.1357C>G (p.Pro453Ala) c.1204C>G (p.Pro402Ala) | gnomAD v4 |
| 8 | g.143728425G= | CA1825940769 | FAM83H | c.1036C= (p.Pro346=) c.1639C= (p.Pro547=) c.216C= c.1093C= (p.Pro365=) c.1054C= (p.Pro352=) c.1357C= (p.Pro453=) c.1204C= (p.Pro402=) | |
| 8 | g.143728425G>T | CA372468790 | FAM83H | c.1036C>A (p.Pro346Thr) c.1639C>A (p.Pro547Thr) c.216C>A c.1093C>A (p.Pro365Thr) c.1054C>A (p.Pro352Thr) c.1357C>A (p.Pro453Thr) c.1204C>A (p.Pro402Thr) | gnomAD v4 |
| 8 | g.143728426G>A | CA463519657 | FAM83H | c.1035C>T (p.Asp345=) c.1638C>T (p.Asp546=) c.215C>T c.1092C>T (p.Asp364=) c.1053C>T (p.Asp351=) c.1356C>T (p.Asp452=) c.1203C>T (p.Asp401=) | gnomAD v4 |
| 8 | g.143728426G>C | CA372468793 | FAM83H | c.1035C>G (p.Asp345Glu) c.1638C>G (p.Asp546Glu) c.215C>G c.1092C>G (p.Asp364Glu) c.1053C>G (p.Asp351Glu) c.1356C>G (p.Asp452Glu) c.1203C>G (p.Asp401Glu) | |
| 8 | g.143728426G>T | CA372468792 | FAM83H | c.1035C>A (p.Asp345Glu) c.1638C>A (p.Asp546Glu) c.215C>A c.1092C>A (p.Asp364Glu) c.1053C>A (p.Asp351Glu) c.1356C>A (p.Asp452Glu) c.1203C>A (p.Asp401Glu) | gnomAD v4 |
| 8 | g.143728427T>A | CA372468794 | FAM83H | c.1034A>T (p.Asp345Val) c.1637A>T (p.Asp546Val) c.214A>T c.1091A>T (p.Asp364Val) c.1052A>T (p.Asp351Val) c.1355A>T (p.Asp452Val) c.1202A>T (p.Asp401Val) | |
| 8 | g.143728427T>C | CA372468797 | FAM83H | c.1034A>G (p.Asp345Gly) c.1637A>G (p.Asp546Gly) c.214A>G c.1091A>G (p.Asp364Gly) c.1052A>G (p.Asp351Gly) c.1355A>G (p.Asp452Gly) c.1202A>G (p.Asp401Gly) | |
| 8 | g.143728427T>G | CA372468795 | FAM83H | c.1034A>C (p.Asp345Ala) c.1637A>C (p.Asp546Ala) c.214A>C c.1091A>C (p.Asp364Ala) c.1052A>C (p.Asp351Ala) c.1355A>C (p.Asp452Ala) c.1202A>C (p.Asp401Ala) | gnomAD v4 |
| 8 | g.143728428C>A | CA372468798 | FAM83H | c.1033G>T (p.Asp345Tyr) c.1636G>T (p.Asp546Tyr) c.213G>T c.1090G>T (p.Asp364Tyr) c.1051G>T (p.Asp351Tyr) c.1354G>T (p.Asp452Tyr) c.1201G>T (p.Asp401Tyr) | dbSNP gnomAD v4 |
| 8 | g.143728428C= | CA1825940770 | FAM83H | c.1033G= (p.Asp345=) c.1636G= (p.Asp546=) c.213G= c.1090G= (p.Asp364=) c.1051G= (p.Asp351=) c.1354G= (p.Asp452=) c.1201G= (p.Asp401=) | |
| 8 | g.143728428C>G | CA372468799 | FAM83H | c.1033G>C (p.Asp345His) c.1636G>C (p.Asp546His) c.213G>C c.1090G>C (p.Asp364His) c.1051G>C (p.Asp351His) c.1354G>C (p.Asp452His) c.1201G>C (p.Asp401His) | |
| 8 | g.143728428C>T | CA372468800 | FAM83H | c.1033G>A (p.Asp345Asn) c.1636G>A (p.Asp546Asn) c.213G>A c.1090G>A (p.Asp364Asn) c.1051G>A (p.Asp351Asn) c.1354G>A (p.Asp452Asn) c.1201G>A (p.Asp401Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728429G>A | CA463519658 | FAM83H | c.1032C>T (p.Leu344=) c.1635C>T (p.Leu545=) c.212C>T c.1089C>T (p.Leu363=) c.1050C>T (p.Leu350=) c.1353C>T (p.Leu451=) c.1200C>T (p.Leu400=) | gnomAD v4 |
| 8 | g.143728429G>C | CA463519659 | FAM83H | c.1032C>G (p.Leu344=) c.1635C>G (p.Leu545=) c.212C>G c.1089C>G (p.Leu363=) c.1050C>G (p.Leu350=) c.1353C>G (p.Leu451=) c.1200C>G (p.Leu400=) | |
| 8 | g.143728429G= | CA1825940771 | FAM83H | c.1032C= (p.Leu344=) c.1635C= (p.Leu545=) c.212C= c.1089C= (p.Leu363=) c.1050C= (p.Leu350=) c.1353C= (p.Leu451=) c.1200C= (p.Leu400=) | |
| 8 | g.143728429G>T | CA463519660 | FAM83H | c.1032C>A (p.Leu344=) c.1635C>A (p.Leu545=) c.212C>A c.1089C>A (p.Leu363=) c.1050C>A (p.Leu350=) c.1353C>A (p.Leu451=) c.1200C>A (p.Leu400=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.143728430A>C | CA372468803 | FAM83H | c.1031T>G (p.Leu344Arg) c.1634T>G (p.Leu545Arg) c.211T>G c.1088T>G (p.Leu363Arg) c.1049T>G (p.Leu350Arg) c.1352T>G (p.Leu451Arg) c.1199T>G (p.Leu400Arg) | |
| 8 | g.143728430A>G | CA372468804 | FAM83H | c.1031T>C (p.Leu344Pro) c.1634T>C (p.Leu545Pro) c.211T>C c.1088T>C (p.Leu363Pro) c.1049T>C (p.Leu350Pro) c.1352T>C (p.Leu451Pro) c.1199T>C (p.Leu400Pro) | gnomAD v4 |
| 8 | g.143728430A>T | CA372468806 | FAM83H | c.1031T>A (p.Leu344His) c.1634T>A (p.Leu545His) c.211T>A c.1088T>A (p.Leu363His) c.1049T>A (p.Leu350His) c.1352T>A (p.Leu451His) c.1199T>A (p.Leu400His) | |
| 8 | g.143728431G>A | CA372468807 | FAM83H | c.1030C>T (p.Leu344Phe) c.1633C>T (p.Leu545Phe) c.210C>T c.1087C>T (p.Leu363Phe) c.1048C>T (p.Leu350Phe) c.1351C>T (p.Leu451Phe) c.1198C>T (p.Leu400Phe) | ClinVar |
| 8 | g.143728431G>C | CA372468809 | FAM83H | c.1030C>G (p.Leu344Val) c.1633C>G (p.Leu545Val) c.210C>G c.1087C>G (p.Leu363Val) c.1048C>G (p.Leu350Val) c.1351C>G (p.Leu451Val) c.1198C>G (p.Leu400Val) | |
| 8 | g.143728431G>T | CA372468811 | FAM83H | c.1030C>A (p.Leu344Ile) c.1633C>A (p.Leu545Ile) c.210C>A c.1087C>A (p.Leu363Ile) c.1048C>A (p.Leu350Ile) c.1351C>A (p.Leu451Ile) c.1198C>A (p.Leu400Ile) | gnomAD v4 |
| 8 | g.143728432G>A | CA463519661 | FAM83H | c.1029C>T (p.Phe343=) c.1632C>T (p.Phe544=) c.209C>T c.1086C>T (p.Phe362=) c.1047C>T (p.Phe349=) c.1350C>T (p.Phe450=) c.1197C>T (p.Phe399=) | gnomAD v4 |
| 8 | g.143728432G>C | CA372468812 | FAM83H | c.1029C>G (p.Phe343Leu) c.1632C>G (p.Phe544Leu) c.209C>G c.1086C>G (p.Phe362Leu) c.1047C>G (p.Phe349Leu) c.1350C>G (p.Phe450Leu) c.1197C>G (p.Phe399Leu) | |
| 8 | g.143728432G>T | CA372468813 | FAM83H | c.1029C>A (p.Phe343Leu) c.1632C>A (p.Phe544Leu) c.209C>A c.1086C>A (p.Phe362Leu) c.1047C>A (p.Phe349Leu) c.1350C>A (p.Phe450Leu) c.1197C>A (p.Phe399Leu) | |
| 8 | g.143728433A>C | CA372468818 | FAM83H | c.1028T>G (p.Phe343Cys) c.1631T>G (p.Phe544Cys) c.208T>G c.1085T>G (p.Phe362Cys) c.1046T>G (p.Phe349Cys) c.1349T>G (p.Phe450Cys) c.1196T>G (p.Phe399Cys) | |
| 8 | g.143728433A>G | CA372468817 | FAM83H | c.1028T>C (p.Phe343Ser) c.1631T>C (p.Phe544Ser) c.208T>C c.1085T>C (p.Phe362Ser) c.1046T>C (p.Phe349Ser) c.1349T>C (p.Phe450Ser) c.1196T>C (p.Phe399Ser) | |
| 8 | g.143728433A>T | CA372468815 | FAM83H | c.1028T>A (p.Phe343Tyr) c.1631T>A (p.Phe544Tyr) c.208T>A c.1085T>A (p.Phe362Tyr) c.1046T>A (p.Phe349Tyr) c.1349T>A (p.Phe450Tyr) c.1196T>A (p.Phe399Tyr) | |
| 8 | g.143728434A= | CA1825940772 | FAM83H | c.1027T= (p.Phe343=) c.1630T= (p.Phe544=) c.207T= c.1084T= (p.Phe362=) c.1045T= (p.Phe349=) c.1348T= (p.Phe450=) c.1195T= (p.Phe399=) | |
| 8 | g.143728434A>C | CA372468819 | FAM83H | c.1027T>G (p.Phe343Val) c.1630T>G (p.Phe544Val) c.207T>G c.1084T>G (p.Phe362Val) c.1045T>G (p.Phe349Val) c.1348T>G (p.Phe450Val) c.1195T>G (p.Phe399Val) | |
| 8 | g.143728434A>G | CA4917535 | FAM83H | c.1027T>C (p.Phe343Leu) c.1630T>C (p.Phe544Leu) c.207T>C c.1084T>C (p.Phe362Leu) c.1045T>C (p.Phe349Leu) c.1348T>C (p.Phe450Leu) c.1195T>C (p.Phe399Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728434A>T | CA372468821 | FAM83H | c.1027T>A (p.Phe343Ile) c.1630T>A (p.Phe544Ile) c.207T>A c.1084T>A (p.Phe362Ile) c.1045T>A (p.Phe349Ile) c.1348T>A (p.Phe450Ile) c.1195T>A (p.Phe399Ile) | |
| 8 | g.143728435G>A | CA463519662 | FAM83H | c.1026C>T (p.Ser342=) c.1629C>T (p.Ser543=) c.206C>T c.1083C>T (p.Ser361=) c.1044C>T (p.Ser348=) c.1347C>T (p.Ser449=) c.1194C>T (p.Ser398=) | dbSNP gnomAD v4 |
| 8 | g.143728435G>C | CA463519663 | FAM83H | c.1026C>G (p.Ser342=) c.1629C>G (p.Ser543=) c.206C>G c.1083C>G (p.Ser361=) c.1044C>G (p.Ser348=) c.1347C>G (p.Ser449=) c.1194C>G (p.Ser398=) | |
| 8 | g.143728435G= | CA1825940773 | FAM83H | c.1026C= (p.Ser342=) c.1629C= (p.Ser543=) c.206C= c.1083C= (p.Ser361=) c.1044C= (p.Ser348=) c.1347C= (p.Ser449=) c.1194C= (p.Ser398=) | |
| 8 | g.143728435G>T | CA463519664 | FAM83H | c.1026C>A (p.Ser342=) c.1629C>A (p.Ser543=) c.206C>A c.1083C>A (p.Ser361=) c.1044C>A (p.Ser348=) c.1347C>A (p.Ser449=) c.1194C>A (p.Ser398=) | gnomAD v4 |
| 8 | g.143728436G>A | CA372468823 | FAM83H | c.1025C>T (p.Ser342Phe) c.1628C>T (p.Ser543Phe) c.205C>T c.1082C>T (p.Ser361Phe) c.1043C>T (p.Ser348Phe) c.1346C>T (p.Ser449Phe) c.1193C>T (p.Ser398Phe) | dbSNP |
| 8 | g.143728436G>C | CA372468824 | FAM83H | c.1025C>G (p.Ser342Cys) c.1628C>G (p.Ser543Cys) c.205C>G c.1082C>G (p.Ser361Cys) c.1043C>G (p.Ser348Cys) c.1346C>G (p.Ser449Cys) c.1193C>G (p.Ser398Cys) | |
| 8 | g.143728436G= | CA1825940774 | FAM83H | c.1025C= (p.Ser342=) c.1628C= (p.Ser543=) c.205C= c.1082C= (p.Ser361=) c.1043C= (p.Ser348=) c.1346C= (p.Ser449=) c.1193C= (p.Ser398=) | |
| 8 | g.143728436G>T | CA372468826 | FAM83H | c.1025C>A (p.Ser342Tyr) c.1628C>A (p.Ser543Tyr) c.205C>A c.1082C>A (p.Ser361Tyr) c.1043C>A (p.Ser348Tyr) c.1346C>A (p.Ser449Tyr) c.1193C>A (p.Ser398Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728437A>C | CA372468827 | FAM83H | c.1024T>G (p.Ser342Ala) c.1627T>G (p.Ser543Ala) c.204T>G c.1081T>G (p.Ser361Ala) c.1042T>G (p.Ser348Ala) c.1345T>G (p.Ser449Ala) c.1192T>G (p.Ser398Ala) | |
| 8 | g.143728437A>G | CA372468829 | FAM83H | c.1024T>C (p.Ser342Pro) c.1627T>C (p.Ser543Pro) c.204T>C c.1081T>C (p.Ser361Pro) c.1042T>C (p.Ser348Pro) c.1345T>C (p.Ser449Pro) c.1192T>C (p.Ser398Pro) | gnomAD v4 |
| 8 | g.143728437A>T | CA372468830 | FAM83H | c.1024T>A (p.Ser342Thr) c.1627T>A (p.Ser543Thr) c.204T>A c.1081T>A (p.Ser361Thr) c.1042T>A (p.Ser348Thr) c.1345T>A (p.Ser449Thr) c.1192T>A (p.Ser398Thr) | |
| 8 | g.143728438G>A | CA187605546 | FAM83H | c.1023C>T (p.Pro341=) c.1626C>T (p.Pro542=) c.203C>T c.1080C>T (p.Pro360=) c.1041C>T (p.Pro347=) c.1344C>T (p.Pro448=) c.1191C>T (p.Pro397=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728438G>C | CA463519665 | FAM83H | c.1023C>G (p.Pro341=) c.1626C>G (p.Pro542=) c.203C>G c.1080C>G (p.Pro360=) c.1041C>G (p.Pro347=) c.1344C>G (p.Pro448=) c.1191C>G (p.Pro397=) | gnomAD v4 |
| 8 | g.143728438G= | CA1825940775 | FAM83H | c.1023C= (p.Pro341=) c.1626C= (p.Pro542=) c.203C= c.1080C= (p.Pro360=) c.1041C= (p.Pro347=) c.1344C= (p.Pro448=) c.1191C= (p.Pro397=) | |
| 8 | g.143728438G>T | CA463519666 | FAM83H | c.1023C>A (p.Pro341=) c.1626C>A (p.Pro542=) c.203C>A c.1080C>A (p.Pro360=) c.1041C>A (p.Pro347=) c.1344C>A (p.Pro448=) c.1191C>A (p.Pro397=) | gnomAD v4 |
| 8 | g.143728439G>A | CA4917536 | FAM83H | c.1022C>T (p.Pro341Leu) c.1625C>T (p.Pro542Leu) c.202C>T c.1079C>T (p.Pro360Leu) c.1040C>T (p.Pro347Leu) c.1343C>T (p.Pro448Leu) c.1190C>T (p.Pro397Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728439G>C | CA372468831 | FAM83H | c.1022C>G (p.Pro341Arg) c.1625C>G (p.Pro542Arg) c.202C>G c.1079C>G (p.Pro360Arg) c.1040C>G (p.Pro347Arg) c.1343C>G (p.Pro448Arg) c.1190C>G (p.Pro397Arg) | |
| 8 | g.143728439G= | CA1825940776 | FAM83H | c.1022C= (p.Pro341=) c.1625C= (p.Pro542=) c.202C= c.1079C= (p.Pro360=) c.1040C= (p.Pro347=) c.1343C= (p.Pro448=) c.1190C= (p.Pro397=) | |
| 8 | g.143728439G>T | CA372468832 | FAM83H | c.1022C>A (p.Pro341His) c.1625C>A (p.Pro542His) c.202C>A c.1079C>A (p.Pro360His) c.1040C>A (p.Pro347His) c.1343C>A (p.Pro448His) c.1190C>A (p.Pro397His) | dbSNP gnomAD v4 |
| 8 | g.143728440G>A | CA372468837 | FAM83H | c.1021C>T (p.Pro341Ser) c.1624C>T (p.Pro542Ser) c.201C>T c.1078C>T (p.Pro360Ser) c.1039C>T (p.Pro347Ser) c.1342C>T (p.Pro448Ser) c.1189C>T (p.Pro397Ser) | gnomAD v4 |
| 8 | g.143728440G>C | CA4917537 | FAM83H | c.1021C>G (p.Pro341Ala) c.1624C>G (p.Pro542Ala) c.201C>G c.1078C>G (p.Pro360Ala) c.1039C>G (p.Pro347Ala) c.1342C>G (p.Pro448Ala) c.1189C>G (p.Pro397Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728440G= | CA1825940777 | FAM83H | c.1021C= (p.Pro341=) c.1624C= (p.Pro542=) c.201C= c.1078C= (p.Pro360=) c.1039C= (p.Pro347=) c.1342C= (p.Pro448=) c.1189C= (p.Pro397=) | |
| 8 | g.143728440G>T | CA372468835 | FAM83H | c.1021C>A (p.Pro341Thr) c.1624C>A (p.Pro542Thr) c.201C>A c.1078C>A (p.Pro360Thr) c.1039C>A (p.Pro347Thr) c.1342C>A (p.Pro448Thr) c.1189C>A (p.Pro397Thr) | gnomAD v4 |
| 8 | g.143728441G>A | CA463519667 | FAM83H | c.1020C>T (p.Phe340=) c.1623C>T (p.Phe541=) c.200C>T c.1077C>T (p.Phe359=) c.1038C>T (p.Phe346=) c.1341C>T (p.Phe447=) c.1188C>T (p.Phe396=) | gnomAD v4 |
| 8 | g.143728441G>C | CA372468838 | FAM83H | c.1020C>G (p.Phe340Leu) c.1623C>G (p.Phe541Leu) c.200C>G c.1077C>G (p.Phe359Leu) c.1038C>G (p.Phe346Leu) c.1341C>G (p.Phe447Leu) c.1188C>G (p.Phe396Leu) | gnomAD v4 |
| 8 | g.143728441G>T | CA372468840 | FAM83H | c.1020C>A (p.Phe340Leu) c.1623C>A (p.Phe541Leu) c.200C>A c.1077C>A (p.Phe359Leu) c.1038C>A (p.Phe346Leu) c.1341C>A (p.Phe447Leu) c.1188C>A (p.Phe396Leu) | gnomAD v4 |
| 8 | g.143728442A>C | CA372468841 | FAM83H | c.1019T>G (p.Phe340Cys) c.1622T>G (p.Phe541Cys) c.199T>G c.1076T>G (p.Phe359Cys) c.1037T>G (p.Phe346Cys) c.1340T>G (p.Phe447Cys) c.1187T>G (p.Phe396Cys) | |
| 8 | g.143728442A>G | CA372468842 | FAM83H | c.1019T>C (p.Phe340Ser) c.1622T>C (p.Phe541Ser) c.199T>C c.1076T>C (p.Phe359Ser) c.1037T>C (p.Phe346Ser) c.1340T>C (p.Phe447Ser) c.1187T>C (p.Phe396Ser) | |
| 8 | g.143728442A>T | CA372468843 | FAM83H | c.1019T>A (p.Phe340Tyr) c.1622T>A (p.Phe541Tyr) c.199T>A c.1076T>A (p.Phe359Tyr) c.1037T>A (p.Phe346Tyr) c.1340T>A (p.Phe447Tyr) c.1187T>A (p.Phe396Tyr) | |
| 8 | g.143728443A>C | CA372468848 | FAM83H | c.1018T>G (p.Phe340Val) c.1621T>G (p.Phe541Val) c.198T>G c.1075T>G (p.Phe359Val) c.1036T>G (p.Phe346Val) c.1339T>G (p.Phe447Val) c.1186T>G (p.Phe396Val) | |
| 8 | g.143728443A>G | CA372468846 | FAM83H | c.1018T>C (p.Phe340Leu) c.1621T>C (p.Phe541Leu) c.198T>C c.1075T>C (p.Phe359Leu) c.1036T>C (p.Phe346Leu) c.1339T>C (p.Phe447Leu) c.1186T>C (p.Phe396Leu) | |
| 8 | g.143728443A>T | CA372468844 | FAM83H | c.1018T>A (p.Phe340Ile) c.1621T>A (p.Phe541Ile) c.198T>A c.1075T>A (p.Phe359Ile) c.1036T>A (p.Phe346Ile) c.1339T>A (p.Phe447Ile) c.1186T>A (p.Phe396Ile) | |
| 8 | g.143728444G>A | CA463519668 | FAM83H | c.1017C>T (p.Gly339=) c.1620C>T (p.Gly540=) c.197C>T c.1074C>T (p.Gly358=) c.1035C>T (p.Gly345=) c.1338C>T (p.Gly446=) c.1185C>T (p.Gly395=) | gnomAD v4 |
| 8 | g.143728444G>C | CA463519670 | FAM83H | c.1017C>G (p.Gly339=) c.1620C>G (p.Gly540=) c.197C>G c.1074C>G (p.Gly358=) c.1035C>G (p.Gly345=) c.1338C>G (p.Gly446=) c.1185C>G (p.Gly395=) | |
| 8 | g.143728444G>T | CA463519669 | FAM83H | c.1017C>A (p.Gly339=) c.1620C>A (p.Gly540=) c.197C>A c.1074C>A (p.Gly358=) c.1035C>A (p.Gly345=) c.1338C>A (p.Gly446=) c.1185C>A (p.Gly395=) | gnomAD v4 |
| 8 | g.143728445C>A | CA372468849 | FAM83H | c.1016G>T (p.Gly339Val) c.1619G>T (p.Gly540Val) c.196G>T c.1073G>T (p.Gly358Val) c.1034G>T (p.Gly345Val) c.1337G>T (p.Gly446Val) c.1184G>T (p.Gly395Val) | gnomAD v4 |
| 8 | g.143728445C>G | CA372468850 | FAM83H | c.1016G>C (p.Gly339Ala) c.1619G>C (p.Gly540Ala) c.196G>C c.1073G>C (p.Gly358Ala) c.1034G>C (p.Gly345Ala) c.1337G>C (p.Gly446Ala) c.1184G>C (p.Gly395Ala) | |
| 8 | g.143728445C>T | CA372468851 | FAM83H | c.1016G>A (p.Gly339Asp) c.1619G>A (p.Gly540Asp) c.196G>A c.1073G>A (p.Gly358Asp) c.1034G>A (p.Gly345Asp) c.1337G>A (p.Gly446Asp) c.1184G>A (p.Gly395Asp) | gnomAD v4 |
| 8 | g.143728447del | CA2688981144 | FAM83H | c.1016del (p.Gly339AlafsTer?) c.1619del (p.Gly540AlafsTer?) c.196del c.1073del (p.Gly358AlafsTer?) c.1034del (p.Gly345AlafsTer?) c.1337del (p.Gly446AlafsTer?) c.1184del (p.Gly395AlafsTer?) | gnomAD v4 |
| 8 | g.143728446C>A | CA372468853 | FAM83H | c.1015G>T (p.Gly339Cys) c.1618G>T (p.Gly540Cys) c.195G>T c.1072G>T (p.Gly358Cys) c.1033G>T (p.Gly345Cys) c.1336G>T (p.Gly446Cys) c.1183G>T (p.Gly395Cys) | gnomAD v4 |
| 8 | g.143728446C>G | CA372468854 | FAM83H | c.1015G>C (p.Gly339Arg) c.1618G>C (p.Gly540Arg) c.195G>C c.1072G>C (p.Gly358Arg) c.1033G>C (p.Gly345Arg) c.1336G>C (p.Gly446Arg) c.1183G>C (p.Gly395Arg) | gnomAD v4 |
| 8 | g.143728446C>T | CA372468856 | FAM83H | c.1015G>A (p.Gly339Ser) c.1618G>A (p.Gly540Ser) c.195G>A c.1072G>A (p.Gly358Ser) c.1033G>A (p.Gly345Ser) c.1336G>A (p.Gly446Ser) c.1183G>A (p.Gly395Ser) | ClinVar gnomAD v4 |
| 8 | g.143728447C>A | CA463519671 | FAM83H | c.1014G>T (p.Leu338=) c.1617G>T (p.Leu539=) c.194G>T c.1071G>T (p.Leu357=) c.1032G>T (p.Leu344=) c.1335G>T (p.Leu445=) c.1182G>T (p.Leu394=) | gnomAD v4 |
| 8 | g.143728447C= | CA1825940778 | FAM83H | c.1014G= (p.Leu338=) c.1617G= (p.Leu539=) c.194G= c.1071G= (p.Leu357=) c.1032G= (p.Leu344=) c.1335G= (p.Leu445=) c.1182G= (p.Leu394=) | |
| 8 | g.143728447C>G | CA463519672 | FAM83H | c.1014G>C (p.Leu338=) c.1617G>C (p.Leu539=) c.194G>C c.1071G>C (p.Leu357=) c.1032G>C (p.Leu344=) c.1335G>C (p.Leu445=) c.1182G>C (p.Leu394=) | |
| 8 | g.143728447C>T | CA463519674 | FAM83H | c.1014G>A (p.Leu338=) c.1617G>A (p.Leu539=) c.194G>A c.1071G>A (p.Leu357=) c.1032G>A (p.Leu344=) c.1335G>A (p.Leu445=) c.1182G>A (p.Leu394=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728448A= | CA1825940779 | FAM83H | c.1013T= (p.Leu338=) c.1616T= (p.Leu539=) c.193T= c.1070T= (p.Leu357=) c.1031T= (p.Leu344=) c.1334T= (p.Leu445=) c.1181T= (p.Leu394=) | |
| 8 | g.143728448A>C | CA372468861 | FAM83H | c.1013T>G (p.Leu338Arg) c.1616T>G (p.Leu539Arg) c.193T>G c.1070T>G (p.Leu357Arg) c.1031T>G (p.Leu344Arg) c.1334T>G (p.Leu445Arg) c.1181T>G (p.Leu394Arg) | |
| 8 | g.143728448A>G | CA372468858 | FAM83H | c.1013T>C (p.Leu338Pro) c.1616T>C (p.Leu539Pro) c.193T>C c.1070T>C (p.Leu357Pro) c.1031T>C (p.Leu344Pro) c.1334T>C (p.Leu445Pro) c.1181T>C (p.Leu394Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728448A>T | CA372468859 | FAM83H | c.1013T>A (p.Leu338Gln) c.1616T>A (p.Leu539Gln) c.193T>A c.1070T>A (p.Leu357Gln) c.1031T>A (p.Leu344Gln) c.1334T>A (p.Leu445Gln) c.1181T>A (p.Leu394Gln) | |
| 8 | g.143728449G>A | CA463519677 | FAM83H | c.1012C>T (p.Leu338=) c.1615C>T (p.Leu539=) c.192C>T c.1069C>T (p.Leu357=) c.1030C>T (p.Leu344=) c.1333C>T (p.Leu445=) c.1180C>T (p.Leu394=) | gnomAD v4 |
| 8 | g.143728449G>C | CA372468862 | FAM83H | c.1012C>G (p.Leu338Val) c.1615C>G (p.Leu539Val) c.192C>G c.1069C>G (p.Leu357Val) c.1030C>G (p.Leu344Val) c.1333C>G (p.Leu445Val) c.1180C>G (p.Leu394Val) | |
| 8 | g.143728449G>T | CA372468863 | FAM83H | c.1012C>A (p.Leu338Met) c.1615C>A (p.Leu539Met) c.192C>A c.1069C>A (p.Leu357Met) c.1030C>A (p.Leu344Met) c.1333C>A (p.Leu445Met) c.1180C>A (p.Leu394Met) | gnomAD v4 |
| 8 | g.143728450G>A | CA463519680 | FAM83H | c.1011C>T (p.Gly337=) c.1614C>T (p.Gly538=) c.191C>T c.1068C>T (p.Gly356=) c.1029C>T (p.Gly343=) c.1332C>T (p.Gly444=) c.1179C>T (p.Gly393=) | gnomAD v4 |
| 8 | g.143728450G>C | CA463519679 | FAM83H | c.1011C>G (p.Gly337=) c.1614C>G (p.Gly538=) c.191C>G c.1068C>G (p.Gly356=) c.1029C>G (p.Gly343=) c.1332C>G (p.Gly444=) c.1179C>G (p.Gly393=) | |
| 8 | g.143728450G>T | CA463519678 | FAM83H | c.1011C>A (p.Gly337=) c.1614C>A (p.Gly538=) c.191C>A c.1068C>A (p.Gly356=) c.1029C>A (p.Gly343=) c.1332C>A (p.Gly444=) c.1179C>A (p.Gly393=) | gnomAD v4 |
| 8 | g.143728450_143728455del | CA2579273274 | FAM83H | c.1006_1011del (p.Glu336_Gly337del) c.1609_1614del (p.Glu537_Gly538del) c.186_191del c.1063_1068del (p.Glu355_Gly356del) c.1024_1029del (p.Glu342_Gly343del) c.1327_1332del (p.Glu443_Gly444del) c.1174_1179del (p.Glu392_Gly393del) | |
| 8 | g.143728451C>A | CA372468865 | FAM83H | c.1010G>T (p.Gly337Val) c.1613G>T (p.Gly538Val) c.190G>T c.1067G>T (p.Gly356Val) c.1028G>T (p.Gly343Val) c.1331G>T (p.Gly444Val) c.1178G>T (p.Gly393Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728451C= | CA1825940780 | FAM83H | c.1010G= (p.Gly337=) c.1613G= (p.Gly538=) c.190G= c.1067G= (p.Gly356=) c.1028G= (p.Gly343=) c.1331G= (p.Gly444=) c.1178G= (p.Gly393=) | |
| 8 | g.143728451C>G | CA372468866 | FAM83H | c.1010G>C (p.Gly337Ala) c.1613G>C (p.Gly538Ala) c.190G>C c.1067G>C (p.Gly356Ala) c.1028G>C (p.Gly343Ala) c.1331G>C (p.Gly444Ala) c.1178G>C (p.Gly393Ala) | gnomAD v4 |
| 8 | g.143728451C>T | CA372468867 | FAM83H | c.1010G>A (p.Gly337Asp) c.1613G>A (p.Gly538Asp) c.190G>A c.1067G>A (p.Gly356Asp) c.1028G>A (p.Gly343Asp) c.1331G>A (p.Gly444Asp) c.1178G>A (p.Gly393Asp) | gnomAD v4 |
| 8 | g.143728452C>A | CA372468869 | FAM83H | c.1009G>T (p.Gly337Cys) c.1612G>T (p.Gly538Cys) c.189G>T c.1066G>T (p.Gly356Cys) c.1027G>T (p.Gly343Cys) c.1330G>T (p.Gly444Cys) c.1177G>T (p.Gly393Cys) | gnomAD v4 |
| 8 | g.143728452C>G | CA372468871 | FAM83H | c.1009G>C (p.Gly337Arg) c.1612G>C (p.Gly538Arg) c.189G>C c.1066G>C (p.Gly356Arg) c.1027G>C (p.Gly343Arg) c.1330G>C (p.Gly444Arg) c.1177G>C (p.Gly393Arg) | |
| 8 | g.143728452C>T | CA372468872 | FAM83H | c.1009G>A (p.Gly337Ser) c.1612G>A (p.Gly538Ser) c.189G>A c.1066G>A (p.Gly356Ser) c.1027G>A (p.Gly343Ser) c.1330G>A (p.Gly444Ser) c.1177G>A (p.Gly393Ser) | gnomAD v3 gnomAD v4 |
| 8 | g.143728453C>A | CA372468873 | FAM83H | c.1008G>T (p.Glu336Asp) c.1611G>T (p.Glu537Asp) c.188G>T c.1065G>T (p.Glu355Asp) c.1026G>T (p.Glu342Asp) c.1329G>T (p.Glu443Asp) c.1176G>T (p.Glu392Asp) | gnomAD v4 |
| 8 | g.143728453C= | CA1825940781 | FAM83H | c.1008G= (p.Glu336=) c.1611G= (p.Glu537=) c.188G= c.1065G= (p.Glu355=) c.1026G= (p.Glu342=) c.1329G= (p.Glu443=) c.1176G= (p.Glu392=) | |
| 8 | g.143728453C>G | CA372468874 | FAM83H | c.1008G>C (p.Glu336Asp) c.1611G>C (p.Glu537Asp) c.188G>C c.1065G>C (p.Glu355Asp) c.1026G>C (p.Glu342Asp) c.1329G>C (p.Glu443Asp) c.1176G>C (p.Glu392Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728453C>T | CA463519682 | FAM83H | c.1008G>A (p.Glu336=) c.1611G>A (p.Glu537=) c.188G>A c.1065G>A (p.Glu355=) c.1026G>A (p.Glu342=) c.1329G>A (p.Glu443=) c.1176G>A (p.Glu392=) | |
| 8 | g.143728454T>A | CA372468875 | FAM83H | c.1007A>T (p.Glu336Val) c.1610A>T (p.Glu537Val) c.187A>T c.1064A>T (p.Glu355Val) c.1025A>T (p.Glu342Val) c.1328A>T (p.Glu443Val) c.1175A>T (p.Glu392Val) | |
| 8 | g.143728454T>C | CA372468877 | FAM83H | c.1007A>G (p.Glu336Gly) c.1610A>G (p.Glu537Gly) c.187A>G c.1064A>G (p.Glu355Gly) c.1025A>G (p.Glu342Gly) c.1328A>G (p.Glu443Gly) c.1175A>G (p.Glu392Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728454T>G | CA372468878 | FAM83H | c.1007A>C (p.Glu336Ala) c.1610A>C (p.Glu537Ala) c.187A>C c.1064A>C (p.Glu355Ala) c.1025A>C (p.Glu342Ala) c.1328A>C (p.Glu443Ala) c.1175A>C (p.Glu392Ala) | dbSNP |
| 8 | g.143728454T= | CA1825940782 | FAM83H | c.1007A= (p.Glu336=) c.1610A= (p.Glu537=) c.187A= c.1064A= (p.Glu355=) c.1025A= (p.Glu342=) c.1328A= (p.Glu443=) c.1175A= (p.Glu392=) | |
| 8 | g.143728455C>A | CA372468879 | FAM83H | c.1006G>T (p.Glu336Ter) c.1609G>T (p.Glu537Ter) c.186G>T c.1063G>T (p.Glu355Ter) c.1024G>T (p.Glu342Ter) c.1327G>T (p.Glu443Ter) c.1174G>T (p.Glu392Ter) | gnomAD v4 |
| 8 | g.143728455C>G | CA372468883 | FAM83H | c.1006G>C (p.Glu336Gln) c.1609G>C (p.Glu537Gln) c.186G>C c.1063G>C (p.Glu355Gln) c.1024G>C (p.Glu342Gln) c.1327G>C (p.Glu443Gln) c.1174G>C (p.Glu392Gln) | gnomAD v4 |
| 8 | g.143728455C>T | CA372468881 | FAM83H | c.1006G>A (p.Glu336Lys) c.1609G>A (p.Glu537Lys) c.186G>A c.1063G>A (p.Glu355Lys) c.1024G>A (p.Glu342Lys) c.1327G>A (p.Glu443Lys) c.1174G>A (p.Glu392Lys) | gnomAD v4 |
| 8 | g.143728456T>A | CA372468885 | FAM83H | c.1005A>T (p.Glu335Asp) c.1608A>T (p.Glu536Asp) c.185A>T c.1062A>T (p.Glu354Asp) c.1023A>T (p.Glu341Asp) c.1326A>T (p.Glu442Asp) c.1173A>T (p.Glu391Asp) | gnomAD v4 |
| 8 | g.143728456T>C | CA463519687 | FAM83H | c.1005A>G (p.Glu335=) c.1608A>G (p.Glu536=) c.185A>G c.1062A>G (p.Glu354=) c.1023A>G (p.Glu341=) c.1326A>G (p.Glu442=) c.1173A>G (p.Glu391=) | dbSNP gnomAD v4 |
| 8 | g.143728456T>G | CA372468886 | FAM83H | c.1005A>C (p.Glu335Asp) c.1608A>C (p.Glu536Asp) c.185A>C c.1062A>C (p.Glu354Asp) c.1023A>C (p.Glu341Asp) c.1326A>C (p.Glu442Asp) c.1173A>C (p.Glu391Asp) | |
| 8 | g.143728456T= | CA1825940783 | FAM83H | c.1005A= (p.Glu335=) c.1608A= (p.Glu536=) c.185A= c.1062A= (p.Glu354=) c.1023A= (p.Glu341=) c.1326A= (p.Glu442=) c.1173A= (p.Glu391=) | |
| 8 | g.143728457T>A | CA372468888 | FAM83H | c.1004A>T (p.Glu335Val) c.1607A>T (p.Glu536Val) c.184A>T c.1061A>T (p.Glu354Val) c.1022A>T (p.Glu341Val) c.1325A>T (p.Glu442Val) c.1172A>T (p.Glu391Val) | |
| 8 | g.143728457T>C | CA372468889 | FAM83H | c.1004A>G (p.Glu335Gly) c.1607A>G (p.Glu536Gly) c.184A>G c.1061A>G (p.Glu354Gly) c.1022A>G (p.Glu341Gly) c.1325A>G (p.Glu442Gly) c.1172A>G (p.Glu391Gly) | |
| 8 | g.143728457T>G | CA372468891 | FAM83H | c.1004A>C (p.Glu335Ala) c.1607A>C (p.Glu536Ala) c.184A>C c.1061A>C (p.Glu354Ala) c.1022A>C (p.Glu341Ala) c.1325A>C (p.Glu442Ala) c.1172A>C (p.Glu391Ala) | |
| 8 | g.143728458C>A | CA372468892 | FAM83H | c.1003G>T (p.Glu335Ter) c.1606G>T (p.Glu536Ter) c.183G>T c.1060G>T (p.Glu354Ter) c.1021G>T (p.Glu341Ter) c.1324G>T (p.Glu442Ter) c.1171G>T (p.Glu391Ter) | gnomAD v4 |
| 8 | g.143728458C= | CA1825940784 | FAM83H | c.1003G= (p.Glu335=) c.1606G= (p.Glu536=) c.183G= c.1060G= (p.Glu354=) c.1021G= (p.Glu341=) c.1324G= (p.Glu442=) c.1171G= (p.Glu391=) | |
| 8 | g.143728458C>G | CA372468893 | FAM83H | c.1003G>C (p.Glu335Gln) c.1606G>C (p.Glu536Gln) c.183G>C c.1060G>C (p.Glu354Gln) c.1021G>C (p.Glu341Gln) c.1324G>C (p.Glu442Gln) c.1171G>C (p.Glu391Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728458C>T | CA372468895 | FAM83H | c.1003G>A (p.Glu335Lys) c.1606G>A (p.Glu536Lys) c.183G>A c.1060G>A (p.Glu354Lys) c.1021G>A (p.Glu341Lys) c.1324G>A (p.Glu442Lys) c.1171G>A (p.Glu391Lys) | gnomAD v4 |
| 8 | g.143728460del | CA2688981175 | FAM83H | c.1003del (p.Glu335LysfsTer?) c.1606del (p.Glu536LysfsTer?) c.183del c.1060del (p.Glu354LysfsTer?) c.1021del (p.Glu341LysfsTer?) c.1324del (p.Glu442LysfsTer?) c.1171del (p.Glu391LysfsTer?) | gnomAD v4 |
| 8 | g.143728459C>A | CA463519688 | FAM83H | c.1002G>T (p.Arg334=) c.1605G>T (p.Arg535=) c.182G>T c.1059G>T (p.Arg353=) c.1020G>T (p.Arg340=) c.1323G>T (p.Arg441=) c.1170G>T (p.Arg390=) | gnomAD v4 |
| 8 | g.143728459C>G | CA463519689 | FAM83H | c.1002G>C (p.Arg334=) c.1605G>C (p.Arg535=) c.182G>C c.1059G>C (p.Arg353=) c.1020G>C (p.Arg340=) c.1323G>C (p.Arg441=) c.1170G>C (p.Arg390=) | |
| 8 | g.143728459C>T | CA463519691 | FAM83H | c.1002G>A (p.Arg334=) c.1605G>A (p.Arg535=) c.182G>A c.1059G>A (p.Arg353=) c.1020G>A (p.Arg340=) c.1323G>A (p.Arg441=) c.1170G>A (p.Arg390=) | gnomAD v4 |
| 8 | g.143728460C>A | CA372468897 | FAM83H | c.1001G>T (p.Arg334Leu) c.1604G>T (p.Arg535Leu) c.181G>T c.1058G>T (p.Arg353Leu) c.1019G>T (p.Arg340Leu) c.1322G>T (p.Arg441Leu) c.1169G>T (p.Arg390Leu) | gnomAD v4 COSMIC |
| 8 | g.143728460C= | CA1825940785 | FAM83H | c.1001G= (p.Arg334=) c.1604G= (p.Arg535=) c.181G= c.1058G= (p.Arg353=) c.1019G= (p.Arg340=) c.1322G= (p.Arg441=) c.1169G= (p.Arg390=) | |
| 8 | g.143728460C>G | CA372468898 | FAM83H | c.1001G>C (p.Arg334Pro) c.1604G>C (p.Arg535Pro) c.181G>C c.1058G>C (p.Arg353Pro) c.1019G>C (p.Arg340Pro) c.1322G>C (p.Arg441Pro) c.1169G>C (p.Arg390Pro) | gnomAD v4 |
| 8 | g.143728460C>T | CA4917538 | FAM83H | c.1001G>A (p.Arg334Gln) c.1604G>A (p.Arg535Gln) c.181G>A c.1058G>A (p.Arg353Gln) c.1019G>A (p.Arg340Gln) c.1322G>A (p.Arg441Gln) c.1169G>A (p.Arg390Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728461G>A | CA372468901 | FAM83H | c.1000C>T (p.Arg334Trp) c.1603C>T (p.Arg535Trp) c.180C>T c.1057C>T (p.Arg353Trp) c.1018C>T (p.Arg340Trp) c.1321C>T (p.Arg441Trp) c.1168C>T (p.Arg390Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728461G>C | CA372468903 | FAM83H | c.1000C>G (p.Arg334Gly) c.1603C>G (p.Arg535Gly) c.180C>G c.1057C>G (p.Arg353Gly) c.1018C>G (p.Arg340Gly) c.1321C>G (p.Arg441Gly) c.1168C>G (p.Arg390Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728461G= | CA1825940786 | FAM83H | c.1000C= (p.Arg334=) c.1603C= (p.Arg535=) c.180C= c.1057C= (p.Arg353=) c.1018C= (p.Arg340=) c.1321C= (p.Arg441=) c.1168C= (p.Arg390=) | |
| 8 | g.143728461G>T | CA463519692 | FAM83H | c.1000C>A (p.Arg334=) c.1603C>A (p.Arg535=) c.180C>A c.1057C>A (p.Arg353=) c.1018C>A (p.Arg340=) c.1321C>A (p.Arg441=) c.1168C>A (p.Arg390=) | gnomAD v4 |
| 8 | g.143728464del | CA2688981187 | FAM83H | c.1000del (p.Arg334GlyfsTer?) c.1603del (p.Arg535GlyfsTer?) c.180del c.1057del (p.Arg353GlyfsTer?) c.1018del (p.Arg340GlyfsTer?) c.1321del (p.Arg441GlyfsTer?) c.1168del (p.Arg390GlyfsTer?) | dbSNP gnomAD v4 |
| 8 | g.143728462G>A | CA463519694 | FAM83H | c.999C>T (p.Pro333=) c.1602C>T (p.Pro534=) c.179C>T c.1056C>T (p.Pro352=) c.1017C>T (p.Pro339=) c.1320C>T (p.Pro440=) c.1167C>T (p.Pro389=) | gnomAD v4 |
| 8 | g.143728462G>C | CA463519696 | FAM83H | c.999C>G (p.Pro333=) c.1602C>G (p.Pro534=) c.179C>G c.1056C>G (p.Pro352=) c.1017C>G (p.Pro339=) c.1320C>G (p.Pro440=) c.1167C>G (p.Pro389=) | |
| 8 | g.143728462G>T | CA463519698 | FAM83H | c.999C>A (p.Pro333=) c.1602C>A (p.Pro534=) c.179C>A c.1056C>A (p.Pro352=) c.1017C>A (p.Pro339=) c.1320C>A (p.Pro440=) c.1167C>A (p.Pro389=) | gnomAD v4 |
| 8 | g.143728463G>A | CA372468907 | FAM83H | c.998C>T (p.Pro333Leu) c.1601C>T (p.Pro534Leu) c.178C>T c.1055C>T (p.Pro352Leu) c.1016C>T (p.Pro339Leu) c.1319C>T (p.Pro440Leu) c.1166C>T (p.Pro389Leu) | gnomAD v4 |
| 8 | g.143728463G>C | CA372468904 | FAM83H | c.998C>G (p.Pro333Arg) c.1601C>G (p.Pro534Arg) c.178C>G c.1055C>G (p.Pro352Arg) c.1016C>G (p.Pro339Arg) c.1319C>G (p.Pro440Arg) c.1166C>G (p.Pro389Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728463G= | CA1825940787 | FAM83H | c.998C= (p.Pro333=) c.1601C= (p.Pro534=) c.178C= c.1055C= (p.Pro352=) c.1016C= (p.Pro339=) c.1319C= (p.Pro440=) c.1166C= (p.Pro389=) | |
| 8 | g.143728463G>T | CA372468905 | FAM83H | c.998C>A (p.Pro333His) c.1601C>A (p.Pro534His) c.178C>A c.1055C>A (p.Pro352His) c.1016C>A (p.Pro339His) c.1319C>A (p.Pro440His) c.1166C>A (p.Pro389His) | gnomAD v4 |
| 8 | g.143728464G>A | CA372468909 | FAM83H | c.997C>T (p.Pro333Ser) c.1600C>T (p.Pro534Ser) c.177C>T c.1054C>T (p.Pro352Ser) c.1015C>T (p.Pro339Ser) c.1318C>T (p.Pro440Ser) c.1165C>T (p.Pro389Ser) | gnomAD v4 |
| 8 | g.143728464G>C | CA372468910 | FAM83H | c.997C>G (p.Pro333Ala) c.1600C>G (p.Pro534Ala) c.177C>G c.1054C>G (p.Pro352Ala) c.1015C>G (p.Pro339Ala) c.1318C>G (p.Pro440Ala) c.1165C>G (p.Pro389Ala) | |
| 8 | g.143728464G>T | CA372468912 | FAM83H | c.997C>A (p.Pro333Thr) c.1600C>A (p.Pro534Thr) c.177C>A c.1054C>A (p.Pro352Thr) c.1015C>A (p.Pro339Thr) c.1318C>A (p.Pro440Thr) c.1165C>A (p.Pro389Thr) | gnomAD v4 |
| 8 | g.143728465T>A | CA463519700 | FAM83H | c.996A>T (p.Pro332=) c.1599A>T (p.Pro533=) c.176A>T c.1053A>T (p.Pro351=) c.1014A>T (p.Pro338=) c.1317A>T (p.Pro439=) c.1164A>T (p.Pro388=) | |
| 8 | g.143728465T>C | CA463519701 | FAM83H | c.996A>G (p.Pro332=) c.1599A>G (p.Pro533=) c.176A>G c.1053A>G (p.Pro351=) c.1014A>G (p.Pro338=) c.1317A>G (p.Pro439=) c.1164A>G (p.Pro388=) | |
| 8 | g.143728465T>G | CA463519702 | FAM83H | c.996A>C (p.Pro332=) c.1599A>C (p.Pro533=) c.176A>C c.1053A>C (p.Pro351=) c.1014A>C (p.Pro338=) c.1317A>C (p.Pro439=) c.1164A>C (p.Pro388=) | |
| 8 | g.143728466G>A | CA372468913 | FAM83H | c.995C>T (p.Pro332Leu) c.1598C>T (p.Pro533Leu) c.175C>T c.1052C>T (p.Pro351Leu) c.1013C>T (p.Pro338Leu) c.1316C>T (p.Pro439Leu) c.1163C>T (p.Pro388Leu) | gnomAD v4 |
| 8 | g.143728466G>C | CA372468915 | FAM83H | c.995C>G (p.Pro332Arg) c.1598C>G (p.Pro533Arg) c.175C>G c.1052C>G (p.Pro351Arg) c.1013C>G (p.Pro338Arg) c.1316C>G (p.Pro439Arg) c.1163C>G (p.Pro388Arg) | |
| 8 | g.143728466G>T | CA372468917 | FAM83H | c.995C>A (p.Pro332Gln) c.1598C>A (p.Pro533Gln) c.175C>A c.1052C>A (p.Pro351Gln) c.1013C>A (p.Pro338Gln) c.1316C>A (p.Pro439Gln) c.1163C>A (p.Pro388Gln) | gnomAD v4 |
| 8 | g.143728467G>A | CA372468918 | FAM83H | c.994C>T (p.Pro332Ser) c.1597C>T (p.Pro533Ser) c.174C>T c.1051C>T (p.Pro351Ser) c.1012C>T (p.Pro338Ser) c.1315C>T (p.Pro439Ser) c.1162C>T (p.Pro388Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728467G>C | CA372468920 | FAM83H | c.994C>G (p.Pro332Ala) c.1597C>G (p.Pro533Ala) c.174C>G c.1051C>G (p.Pro351Ala) c.1012C>G (p.Pro338Ala) c.1315C>G (p.Pro439Ala) c.1162C>G (p.Pro388Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728467G= | CA1825940788 | FAM83H | c.994C= (p.Pro332=) c.1597C= (p.Pro533=) c.174C= c.1051C= (p.Pro351=) c.1012C= (p.Pro338=) c.1315C= (p.Pro439=) c.1162C= (p.Pro388=) | |
| 8 | g.143728467G>T | CA372468921 | FAM83H | c.994C>A (p.Pro332Thr) c.1597C>A (p.Pro533Thr) c.174C>A c.1051C>A (p.Pro351Thr) c.1012C>A (p.Pro338Thr) c.1315C>A (p.Pro439Thr) c.1162C>A (p.Pro388Thr) | gnomAD v4 |
| 8 | g.143728468C>A | CA463519705 | FAM83H | c.993G>T (p.Pro331=) c.1596G>T (p.Pro532=) c.173G>T c.1050G>T (p.Pro350=) c.1011G>T (p.Pro337=) c.1314G>T (p.Pro438=) c.1161G>T (p.Pro387=) | gnomAD v4 |
| 8 | g.143728468C>G | CA463519707 | FAM83H | c.993G>C (p.Pro331=) c.1596G>C (p.Pro532=) c.173G>C c.1050G>C (p.Pro350=) c.1011G>C (p.Pro337=) c.1314G>C (p.Pro438=) c.1161G>C (p.Pro387=) | gnomAD v4 |
| 8 | g.143728468C>T | CA463519710 | FAM83H | c.993G>A (p.Pro331=) c.1596G>A (p.Pro532=) c.173G>A c.1050G>A (p.Pro350=) c.1011G>A (p.Pro337=) c.1314G>A (p.Pro438=) c.1161G>A (p.Pro387=) | gnomAD v4 |
| 8 | g.143728469G>A | CA372468922 | FAM83H | c.992C>T (p.Pro331Leu) c.1595C>T (p.Pro532Leu) c.172C>T c.1049C>T (p.Pro350Leu) c.1010C>T (p.Pro337Leu) c.1313C>T (p.Pro438Leu) c.1160C>T (p.Pro387Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728469G>C | CA372468923 | FAM83H | c.992C>G (p.Pro331Arg) c.1595C>G (p.Pro532Arg) c.172C>G c.1049C>G (p.Pro350Arg) c.1010C>G (p.Pro337Arg) c.1313C>G (p.Pro438Arg) c.1160C>G (p.Pro387Arg) | |
| 8 | g.143728469G= | CA1825940789 | FAM83H | c.992C= (p.Pro331=) c.1595C= (p.Pro532=) c.172C= c.1049C= (p.Pro350=) c.1010C= (p.Pro337=) c.1313C= (p.Pro438=) c.1160C= (p.Pro387=) | |
| 8 | g.143728469G>T | CA372468924 | FAM83H | c.992C>A (p.Pro331Gln) c.1595C>A (p.Pro532Gln) c.172C>A c.1049C>A (p.Pro350Gln) c.1010C>A (p.Pro337Gln) c.1313C>A (p.Pro438Gln) c.1160C>A (p.Pro387Gln) | gnomAD v4 |
| 8 | g.143728470G>A | CA372468926 | FAM83H | c.991C>T (p.Pro331Ser) c.1594C>T (p.Pro532Ser) c.171C>T c.1048C>T (p.Pro350Ser) c.1009C>T (p.Pro337Ser) c.1312C>T (p.Pro438Ser) c.1159C>T (p.Pro387Ser) | gnomAD v4 |
| 8 | g.143728470G>C | CA372468927 | FAM83H | c.991C>G (p.Pro331Ala) c.1594C>G (p.Pro532Ala) c.171C>G c.1048C>G (p.Pro350Ala) c.1009C>G (p.Pro337Ala) c.1312C>G (p.Pro438Ala) c.1159C>G (p.Pro387Ala) | |
| 8 | g.143728470G>T | CA372468925 | FAM83H | c.991C>A (p.Pro331Thr) c.1594C>A (p.Pro532Thr) c.171C>A c.1048C>A (p.Pro350Thr) c.1009C>A (p.Pro337Thr) c.1312C>A (p.Pro438Thr) c.1159C>A (p.Pro387Thr) | gnomAD v4 |
| 8 | g.143728471G>A | CA463519716 | FAM83H | c.990C>T (p.Phe330=) c.1593C>T (p.Phe531=) c.170C>T c.1047C>T (p.Phe349=) c.1008C>T (p.Phe336=) c.1311C>T (p.Phe437=) c.1158C>T (p.Phe386=) | dbSNP gnomAD v4 |
| 8 | g.143728471G>C | CA372468929 | FAM83H | c.990C>G (p.Phe330Leu) c.1593C>G (p.Phe531Leu) c.170C>G c.1047C>G (p.Phe349Leu) c.1008C>G (p.Phe336Leu) c.1311C>G (p.Phe437Leu) c.1158C>G (p.Phe386Leu) | dbSNP gnomAD v4 |
| 8 | g.143728471G= | CA1825940790 | FAM83H | c.990C= (p.Phe330=) c.1593C= (p.Phe531=) c.170C= c.1047C= (p.Phe349=) c.1008C= (p.Phe336=) c.1311C= (p.Phe437=) c.1158C= (p.Phe386=) | |
| 8 | g.143728471G>T | CA372468928 | FAM83H | c.990C>A (p.Phe330Leu) c.1593C>A (p.Phe531Leu) c.170C>A c.1047C>A (p.Phe349Leu) c.1008C>A (p.Phe336Leu) c.1311C>A (p.Phe437Leu) c.1158C>A (p.Phe386Leu) | gnomAD v4 |
| 8 | g.143728472A>C | CA372468931 | FAM83H | c.989T>G (p.Phe330Cys) c.1592T>G (p.Phe531Cys) c.169T>G c.1046T>G (p.Phe349Cys) c.1007T>G (p.Phe336Cys) c.1310T>G (p.Phe437Cys) c.1157T>G (p.Phe386Cys) | |
| 8 | g.143728472A>G | CA372468930 | FAM83H | c.989T>C (p.Phe330Ser) c.1592T>C (p.Phe531Ser) c.169T>C c.1046T>C (p.Phe349Ser) c.1007T>C (p.Phe336Ser) c.1310T>C (p.Phe437Ser) c.1157T>C (p.Phe386Ser) | gnomAD v4 |
| 8 | g.143728472A>T | CA372468932 | FAM83H | c.989T>A (p.Phe330Tyr) c.1592T>A (p.Phe531Tyr) c.169T>A c.1046T>A (p.Phe349Tyr) c.1007T>A (p.Phe336Tyr) c.1310T>A (p.Phe437Tyr) c.1157T>A (p.Phe386Tyr) | |
| 8 | g.143728473A>C | CA372468933 | FAM83H | c.988T>G (p.Phe330Val) c.1591T>G (p.Phe531Val) c.168T>G c.1045T>G (p.Phe349Val) c.1006T>G (p.Phe336Val) c.1309T>G (p.Phe437Val) c.1156T>G (p.Phe386Val) | |
| 8 | g.143728473A>G | CA372468934 | FAM83H | c.988T>C (p.Phe330Leu) c.1591T>C (p.Phe531Leu) c.168T>C c.1045T>C (p.Phe349Leu) c.1006T>C (p.Phe336Leu) c.1309T>C (p.Phe437Leu) c.1156T>C (p.Phe386Leu) | |
| 8 | g.143728473A>T | CA372468935 | FAM83H | c.988T>A (p.Phe330Ile) c.1591T>A (p.Phe531Ile) c.168T>A c.1045T>A (p.Phe349Ile) c.1006T>A (p.Phe336Ile) c.1309T>A (p.Phe437Ile) c.1156T>A (p.Phe386Ile) | gnomAD v4 |
| 8 | g.143728474C>A | CA463519721 | FAM83H | c.987G>T (p.Leu329=) c.1590G>T (p.Leu530=) c.167G>T c.1044G>T (p.Leu348=) c.1005G>T (p.Leu335=) c.1308G>T (p.Leu436=) c.1155G>T (p.Leu385=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728474C= | CA1825940791 | FAM83H | c.987G= (p.Leu329=) c.1590G= (p.Leu530=) c.167G= c.1044G= (p.Leu348=) c.1005G= (p.Leu335=) c.1308G= (p.Leu436=) c.1155G= (p.Leu385=) | |
| 8 | g.143728474C>G | CA463519725 | FAM83H | c.987G>C (p.Leu329=) c.1590G>C (p.Leu530=) c.167G>C c.1044G>C (p.Leu348=) c.1005G>C (p.Leu335=) c.1308G>C (p.Leu436=) c.1155G>C (p.Leu385=) | |
| 8 | g.143728474C>T | CA463519726 | FAM83H | c.987G>A (p.Leu329=) c.1590G>A (p.Leu530=) c.167G>A c.1044G>A (p.Leu348=) c.1005G>A (p.Leu335=) c.1308G>A (p.Leu436=) c.1155G>A (p.Leu385=) | gnomAD v4 |
| 8 | g.143728475A= | CA1825940792 | FAM83H | c.986T= (p.Leu329=) c.1589T= (p.Leu530=) c.166T= c.1043T= (p.Leu348=) c.1004T= (p.Leu335=) c.1307T= (p.Leu436=) c.1154T= (p.Leu385=) | |
| 8 | g.143728475A>C | CA372468936 | FAM83H | c.986T>G (p.Leu329Arg) c.1589T>G (p.Leu530Arg) c.166T>G c.1043T>G (p.Leu348Arg) c.1004T>G (p.Leu335Arg) c.1307T>G (p.Leu436Arg) c.1154T>G (p.Leu385Arg) | |
| 8 | g.143728475A>G | CA372468937 | FAM83H | c.986T>C (p.Leu329Pro) c.1589T>C (p.Leu530Pro) c.166T>C c.1043T>C (p.Leu348Pro) c.1004T>C (p.Leu335Pro) c.1307T>C (p.Leu436Pro) c.1154T>C (p.Leu385Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728475A>T | CA372468938 | FAM83H | c.986T>A (p.Leu329Gln) c.1589T>A (p.Leu530Gln) c.166T>A c.1043T>A (p.Leu348Gln) c.1004T>A (p.Leu335Gln) c.1307T>A (p.Leu436Gln) c.1154T>A (p.Leu385Gln) | |
| 8 | g.143728476G>A | CA463519730 | FAM83H | c.985C>T (p.Leu329=) c.1588C>T (p.Leu530=) c.165C>T c.1042C>T (p.Leu348=) c.1003C>T (p.Leu335=) c.1306C>T (p.Leu436=) c.1153C>T (p.Leu385=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728476G>C | CA372468939 | FAM83H | c.985C>G (p.Leu329Val) c.1588C>G (p.Leu530Val) c.165C>G c.1042C>G (p.Leu348Val) c.1003C>G (p.Leu335Val) c.1306C>G (p.Leu436Val) c.1153C>G (p.Leu385Val) | |
| 8 | g.143728476G= | CA1825940793 | FAM83H | c.985C= (p.Leu329=) c.1588C= (p.Leu530=) c.165C= c.1042C= (p.Leu348=) c.1003C= (p.Leu335=) c.1306C= (p.Leu436=) c.1153C= (p.Leu385=) | |
| 8 | g.143728476G>T | CA372468940 | FAM83H | c.985C>A (p.Leu329Met) c.1588C>A (p.Leu530Met) c.165C>A c.1042C>A (p.Leu348Met) c.1003C>A (p.Leu335Met) c.1306C>A (p.Leu436Met) c.1153C>A (p.Leu385Met) | gnomAD v4 |
| 8 | g.143728477G>A | CA463519731 | FAM83H | c.984C>T (p.Leu328=) c.1587C>T (p.Leu529=) c.164C>T c.1041C>T (p.Leu347=) c.1002C>T (p.Leu334=) c.1305C>T (p.Leu435=) c.1152C>T (p.Leu384=) | gnomAD v4 |
| 8 | g.143728477G>C | CA463519732 | FAM83H | c.984C>G (p.Leu328=) c.1587C>G (p.Leu529=) c.164C>G c.1041C>G (p.Leu347=) c.1002C>G (p.Leu334=) c.1305C>G (p.Leu435=) c.1152C>G (p.Leu384=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728477G= | CA1825940794 | FAM83H | c.984C= (p.Leu328=) c.1587C= (p.Leu529=) c.164C= c.1041C= (p.Leu347=) c.1002C= (p.Leu334=) c.1305C= (p.Leu435=) c.1152C= (p.Leu384=) | |
| 8 | g.143728477G>T | CA463519735 | FAM83H | c.984C>A (p.Leu328=) c.1587C>A (p.Leu529=) c.164C>A c.1041C>A (p.Leu347=) c.1002C>A (p.Leu334=) c.1305C>A (p.Leu435=) c.1152C>A (p.Leu384=) | gnomAD v4 |
| 8 | g.143728478A>C | CA372468941 | FAM83H | c.983T>G (p.Leu328Arg) c.1586T>G (p.Leu529Arg) c.163T>G c.1040T>G (p.Leu347Arg) c.1001T>G (p.Leu334Arg) c.1304T>G (p.Leu435Arg) c.1151T>G (p.Leu384Arg) | |
| 8 | g.143728478A>G | CA372468942 | FAM83H | c.983T>C (p.Leu328Pro) c.1586T>C (p.Leu529Pro) c.163T>C c.1040T>C (p.Leu347Pro) c.1001T>C (p.Leu334Pro) c.1304T>C (p.Leu435Pro) c.1151T>C (p.Leu384Pro) | gnomAD v4 |
| 8 | g.143728478A>T | CA372468943 | FAM83H | c.983T>A (p.Leu328His) c.1586T>A (p.Leu529His) c.163T>A c.1040T>A (p.Leu347His) c.1001T>A (p.Leu334His) c.1304T>A (p.Leu435His) c.1151T>A (p.Leu384His) | gnomAD v4 |
| 8 | g.143728479G>A | CA372468944 | FAM83H | c.982C>T (p.Leu328Phe) c.1585C>T (p.Leu529Phe) c.162C>T c.1039C>T (p.Leu347Phe) c.1000C>T (p.Leu334Phe) c.1303C>T (p.Leu435Phe) c.1150C>T (p.Leu384Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728479G>C | CA372468945 | FAM83H | c.982C>G (p.Leu328Val) c.1585C>G (p.Leu529Val) c.162C>G c.1039C>G (p.Leu347Val) c.1000C>G (p.Leu334Val) c.1303C>G (p.Leu435Val) c.1150C>G (p.Leu384Val) | |
| 8 | g.143728479G= | CA1825940795 | FAM83H | c.982C= (p.Leu328=) c.1585C= (p.Leu529=) c.162C= c.1039C= (p.Leu347=) c.1000C= (p.Leu334=) c.1303C= (p.Leu435=) c.1150C= (p.Leu384=) | |
| 8 | g.143728479G>T | CA372468946 | FAM83H | c.982C>A (p.Leu328Ile) c.1585C>A (p.Leu529Ile) c.162C>A c.1039C>A (p.Leu347Ile) c.1000C>A (p.Leu334Ile) c.1303C>A (p.Leu435Ile) c.1150C>A (p.Leu384Ile) | gnomAD v4 COSMIC |
| 8 | g.143728480G>A | CA463519743 | FAM83H | c.981C>T (p.His327=) c.1584C>T (p.His528=) c.161C>T c.1038C>T (p.His346=) c.999C>T (p.His333=) c.1302C>T (p.His434=) c.1149C>T (p.His383=) | gnomAD v4 |
| 8 | g.143728480G>C | CA372468947 | FAM83H | c.981C>G (p.His327Gln) c.1584C>G (p.His528Gln) c.161C>G c.1038C>G (p.His346Gln) c.999C>G (p.His333Gln) c.1302C>G (p.His434Gln) c.1149C>G (p.His383Gln) | |
| 8 | g.143728480G>T | CA372468948 | FAM83H | c.981C>A (p.His327Gln) c.1584C>A (p.His528Gln) c.161C>A c.1038C>A (p.His346Gln) c.999C>A (p.His333Gln) c.1302C>A (p.His434Gln) c.1149C>A (p.His383Gln) | |
| 8 | g.143728481T>A | CA372468949 | FAM83H | c.980A>T (p.His327Leu) c.1583A>T (p.His528Leu) c.160A>T c.1037A>T (p.His346Leu) c.998A>T (p.His333Leu) c.1301A>T (p.His434Leu) c.1148A>T (p.His383Leu) | gnomAD v4 |
| 8 | g.143728481T>C | CA372468950 | FAM83H | c.980A>G (p.His327Arg) c.1583A>G (p.His528Arg) c.160A>G c.1037A>G (p.His346Arg) c.998A>G (p.His333Arg) c.1301A>G (p.His434Arg) c.1148A>G (p.His383Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.143728481T>G | CA372468951 | FAM83H | c.980A>C (p.His327Pro) c.1583A>C (p.His528Pro) c.160A>C c.1037A>C (p.His346Pro) c.998A>C (p.His333Pro) c.1301A>C (p.His434Pro) c.1148A>C (p.His383Pro) | gnomAD v4 |
| 8 | g.143728481T= | CA1825940796 | FAM83H | c.980A= (p.His327=) c.1583A= (p.His528=) c.160A= c.1037A= (p.His346=) c.998A= (p.His333=) c.1301A= (p.His434=) c.1148A= (p.His383=) | |
| 8 | g.143728482G>A | CA372468952 | FAM83H | c.979C>T (p.His327Tyr) c.1582C>T (p.His528Tyr) c.159C>T c.1036C>T (p.His346Tyr) c.997C>T (p.His333Tyr) c.1300C>T (p.His434Tyr) c.1147C>T (p.His383Tyr) | gnomAD v4 |
| 8 | g.143728482G>C | CA372468953 | FAM83H | c.979C>G (p.His327Asp) c.1582C>G (p.His528Asp) c.159C>G c.1036C>G (p.His346Asp) c.997C>G (p.His333Asp) c.1300C>G (p.His434Asp) c.1147C>G (p.His383Asp) | |
| 8 | g.143728482G>T | CA372468954 | FAM83H | c.979C>A (p.His327Asn) c.1582C>A (p.His528Asn) c.159C>A c.1036C>A (p.His346Asn) c.997C>A (p.His333Asn) c.1300C>A (p.His434Asn) c.1147C>A (p.His383Asn) | gnomAD v4 |
| 8 | g.143728483C>A | CA463519758 | FAM83H | c.978G>T (p.Ala326=) c.1581G>T (p.Ala527=) c.158G>T c.1035G>T (p.Ala345=) c.996G>T (p.Ala332=) c.1299G>T (p.Ala433=) c.1146G>T (p.Ala382=) | |
| 8 | g.143728483C= | CA1825940797 | FAM83H | c.978G= (p.Ala326=) c.1581G= (p.Ala527=) c.158G= c.1035G= (p.Ala345=) c.996G= (p.Ala332=) c.1299G= (p.Ala433=) c.1146G= (p.Ala382=) | |
| 8 | g.143728483C>G | CA4917539 | FAM83H | c.978G>C (p.Ala326=) c.1581G>C (p.Ala527=) c.158G>C c.1035G>C (p.Ala345=) c.996G>C (p.Ala332=) c.1299G>C (p.Ala433=) c.1146G>C (p.Ala382=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728483C>T | CA463519760 | FAM83H | c.978G>A (p.Ala326=) c.1581G>A (p.Ala527=) c.158G>A c.1035G>A (p.Ala345=) c.996G>A (p.Ala332=) c.1299G>A (p.Ala433=) c.1146G>A (p.Ala382=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728484G>A | CA372468955 | FAM83H | c.977C>T (p.Ala326Val) c.1580C>T (p.Ala527Val) c.157C>T c.1034C>T (p.Ala345Val) c.995C>T (p.Ala332Val) c.1298C>T (p.Ala433Val) c.1145C>T (p.Ala382Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728484G>C | CA372468956 | FAM83H | c.977C>G (p.Ala326Gly) c.1580C>G (p.Ala527Gly) c.157C>G c.1034C>G (p.Ala345Gly) c.995C>G (p.Ala332Gly) c.1298C>G (p.Ala433Gly) c.1145C>G (p.Ala382Gly) | gnomAD v4 |
| 8 | g.143728484G= | CA1825940798 | FAM83H | c.977C= (p.Ala326=) c.1580C= (p.Ala527=) c.157C= c.1034C= (p.Ala345=) c.995C= (p.Ala332=) c.1298C= (p.Ala433=) c.1145C= (p.Ala382=) | |
| 8 | g.143728484G>T | CA372468957 | FAM83H | c.977C>A (p.Ala326Glu) c.1580C>A (p.Ala527Glu) c.157C>A c.1034C>A (p.Ala345Glu) c.995C>A (p.Ala332Glu) c.1298C>A (p.Ala433Glu) c.1145C>A (p.Ala382Glu) | gnomAD v4 |
| 8 | g.143728485C>A | CA372468958 | FAM83H | c.976G>T (p.Ala326Ser) c.1579G>T (p.Ala527Ser) c.156G>T c.1033G>T (p.Ala345Ser) c.994G>T (p.Ala332Ser) c.1297G>T (p.Ala433Ser) c.1144G>T (p.Ala382Ser) | gnomAD v4 |
| 8 | g.143728485C= | CA1825940799 | FAM83H | c.976G= (p.Ala326=) c.1579G= (p.Ala527=) c.156G= c.1033G= (p.Ala345=) c.994G= (p.Ala332=) c.1297G= (p.Ala433=) c.1144G= (p.Ala382=) | |
| 8 | g.143728485C>G | CA372468959 | FAM83H | c.976G>C (p.Ala326Pro) c.1579G>C (p.Ala527Pro) c.156G>C c.1033G>C (p.Ala345Pro) c.994G>C (p.Ala332Pro) c.1297G>C (p.Ala433Pro) c.1144G>C (p.Ala382Pro) | |
| 8 | g.143728485C>T | CA372468960 | FAM83H | c.976G>A (p.Ala326Thr) c.1579G>A (p.Ala527Thr) c.156G>A c.1033G>A (p.Ala345Thr) c.994G>A (p.Ala332Thr) c.1297G>A (p.Ala433Thr) c.1144G>A (p.Ala382Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728486T>A | CA463519764 | FAM83H | c.975A>T (p.Arg325=) c.1578A>T (p.Arg526=) c.155A>T c.1032A>T (p.Arg344=) c.993A>T (p.Arg331=) c.1296A>T (p.Arg432=) c.1143A>T (p.Arg381=) | |
| 8 | g.143728486T>C | CA463519766 | FAM83H | c.975A>G (p.Arg325=) c.1578A>G (p.Arg526=) c.155A>G c.1032A>G (p.Arg344=) c.993A>G (p.Arg331=) c.1296A>G (p.Arg432=) c.1143A>G (p.Arg381=) | gnomAD v4 |
| 8 | g.143728486T>G | CA463519765 | FAM83H | c.975A>C (p.Arg325=) c.1578A>C (p.Arg526=) c.155A>C c.1032A>C (p.Arg344=) c.993A>C (p.Arg331=) c.1296A>C (p.Arg432=) c.1143A>C (p.Arg381=) | |
| 8 | g.143728487C>A | CA372468961 | FAM83H | c.974G>T (p.Arg325Leu) c.1577G>T (p.Arg526Leu) c.154G>T c.1031G>T (p.Arg344Leu) c.992G>T (p.Arg331Leu) c.1295G>T (p.Arg432Leu) c.1142G>T (p.Arg381Leu) | gnomAD v4 |
| 8 | g.143728487C>G | CA372468963 | FAM83H | c.974G>C (p.Arg325Pro) c.1577G>C (p.Arg526Pro) c.154G>C c.1031G>C (p.Arg344Pro) c.992G>C (p.Arg331Pro) c.1295G>C (p.Arg432Pro) c.1142G>C (p.Arg381Pro) | gnomAD v4 |
| 8 | g.143728487C>T | CA372468962 | FAM83H | c.974G>A (p.Arg325Gln) c.1577G>A (p.Arg526Gln) c.154G>A c.1031G>A (p.Arg344Gln) c.992G>A (p.Arg331Gln) c.1295G>A (p.Arg432Gln) c.1142G>A (p.Arg381Gln) | gnomAD v4 COSMIC |
| 8 | g.143728488G>A | CA114491 | FAM83H | c.973C>T (p.Arg325Ter) c.1576C>T (p.Arg526Ter) c.153C>T c.1030C>T (p.Arg344Ter) c.991C>T (p.Arg331Ter) c.1294C>T (p.Arg432Ter) c.1141C>T (p.Arg381Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.143728488G>C | CA372468964 | FAM83H | c.973C>G (p.Arg325Gly) c.1576C>G (p.Arg526Gly) c.153C>G c.1030C>G (p.Arg344Gly) c.991C>G (p.Arg331Gly) c.1294C>G (p.Arg432Gly) c.1141C>G (p.Arg381Gly) | |
| 8 | g.143728488G= | CA1825940800 | FAM83H | c.973C= (p.Arg325=) c.1576C= (p.Arg526=) c.153C= c.1030C= (p.Arg344=) c.991C= (p.Arg331=) c.1294C= (p.Arg432=) c.1141C= (p.Arg381=) | |
| 8 | g.143728488G>T | CA463519771 | FAM83H | c.973C>A (p.Arg325=) c.1576C>A (p.Arg526=) c.153C>A c.1030C>A (p.Arg344=) c.991C>A (p.Arg331=) c.1294C>A (p.Arg432=) c.1141C>A (p.Arg381=) | gnomAD v4 |
| 8 | g.143728489T>A | CA372468965 | FAM83H | c.972A>T (p.Lys324Asn) c.1575A>T (p.Lys525Asn) c.152A>T c.1029A>T (p.Lys343Asn) c.990A>T (p.Lys330Asn) c.1293A>T (p.Lys431Asn) c.1140A>T (p.Lys380Asn) | |
| 8 | g.143728489T>C | CA463519774 | FAM83H | c.972A>G (p.Lys324=) c.1575A>G (p.Lys525=) c.152A>G c.1029A>G (p.Lys343=) c.990A>G (p.Lys330=) c.1293A>G (p.Lys431=) c.1140A>G (p.Lys380=) | |
| 8 | g.143728489T>G | CA372468966 | FAM83H | c.972A>C (p.Lys324Asn) c.1575A>C (p.Lys525Asn) c.152A>C c.1029A>C (p.Lys343Asn) c.990A>C (p.Lys330Asn) c.1293A>C (p.Lys431Asn) c.1140A>C (p.Lys380Asn) | |
| 8 | g.143728490T>A | CA372468967 | FAM83H | c.971A>T (p.Lys324Ile) c.1574A>T (p.Lys525Ile) c.151A>T c.1028A>T (p.Lys343Ile) c.989A>T (p.Lys330Ile) c.1292A>T (p.Lys431Ile) c.1139A>T (p.Lys380Ile) | |
| 8 | g.143728490T>C | CA372468968 | FAM83H | c.971A>G (p.Lys324Arg) c.1574A>G (p.Lys525Arg) c.151A>G c.1028A>G (p.Lys343Arg) c.989A>G (p.Lys330Arg) c.1292A>G (p.Lys431Arg) c.1139A>G (p.Lys380Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728490T>G | CA372468969 | FAM83H | c.971A>C (p.Lys324Thr) c.1574A>C (p.Lys525Thr) c.151A>C c.1028A>C (p.Lys343Thr) c.989A>C (p.Lys330Thr) c.1292A>C (p.Lys431Thr) c.1139A>C (p.Lys380Thr) | |
| 8 | g.143728490T= | CA1825940801 | FAM83H | c.971A= (p.Lys324=) c.1574A= (p.Lys525=) c.151A= c.1028A= (p.Lys343=) c.989A= (p.Lys330=) c.1292A= (p.Lys431=) c.1139A= (p.Lys380=) | |
| 8 | g.143728491T>A | CA372468970 | FAM83H | c.970A>T (p.Lys324Ter) c.1573A>T (p.Lys525Ter) c.150A>T c.1027A>T (p.Lys343Ter) c.988A>T (p.Lys330Ter) c.1291A>T (p.Lys431Ter) c.1138A>T (p.Lys380Ter) | |
| 8 | g.143728491T>C | CA372468971 | FAM83H | c.970A>G (p.Lys324Glu) c.1573A>G (p.Lys525Glu) c.150A>G c.1027A>G (p.Lys343Glu) c.988A>G (p.Lys330Glu) c.1291A>G (p.Lys431Glu) c.1138A>G (p.Lys380Glu) | |
| 8 | g.143728491T>G | CA372468972 | FAM83H | c.970A>C (p.Lys324Gln) c.1573A>C (p.Lys525Gln) c.150A>C c.1027A>C (p.Lys343Gln) c.988A>C (p.Lys330Gln) c.1291A>C (p.Lys431Gln) c.1138A>C (p.Lys380Gln) | |
| 8 | g.143728492A>C | CA463519781 | FAM83H | c.969T>G (p.Pro323=) c.1572T>G (p.Pro524=) c.149T>G c.1026T>G (p.Pro342=) c.987T>G (p.Pro329=) c.1290T>G (p.Pro430=) c.1137T>G (p.Pro379=) | |
| 8 | g.143728492A>G | CA463519780 | FAM83H | c.969T>C (p.Pro323=) c.1572T>C (p.Pro524=) c.149T>C c.1026T>C (p.Pro342=) c.987T>C (p.Pro329=) c.1290T>C (p.Pro430=) c.1137T>C (p.Pro379=) | gnomAD v4 |
| 8 | g.143728492A>T | CA463519778 | FAM83H | c.969T>A (p.Pro323=) c.1572T>A (p.Pro524=) c.149T>A c.1026T>A (p.Pro342=) c.987T>A (p.Pro329=) c.1290T>A (p.Pro430=) c.1137T>A (p.Pro379=) | gnomAD v4 |
| 8 | g.143728493G>A | CA372468973 | FAM83H | c.968C>T (p.Pro323Leu) c.1571C>T (p.Pro524Leu) c.148C>T c.1025C>T (p.Pro342Leu) c.986C>T (p.Pro329Leu) c.1289C>T (p.Pro430Leu) c.1136C>T (p.Pro379Leu) | |
| 8 | g.143728493G>C | CA372468974 | FAM83H | c.968C>G (p.Pro323Arg) c.1571C>G (p.Pro524Arg) c.148C>G c.1025C>G (p.Pro342Arg) c.986C>G (p.Pro329Arg) c.1289C>G (p.Pro430Arg) c.1136C>G (p.Pro379Arg) | dbSNP |
| 8 | g.143728493G= | CA1825940802 | FAM83H | c.968C= (p.Pro323=) c.1571C= (p.Pro524=) c.148C= c.1025C= (p.Pro342=) c.986C= (p.Pro329=) c.1289C= (p.Pro430=) c.1136C= (p.Pro379=) | |
| 8 | g.143728493G>T | CA372468975 | FAM83H | c.968C>A (p.Pro323His) c.1571C>A (p.Pro524His) c.148C>A c.1025C>A (p.Pro342His) c.986C>A (p.Pro329His) c.1289C>A (p.Pro430His) c.1136C>A (p.Pro379His) | gnomAD v4 |
| 8 | g.143728494G>A | CA4917540 | FAM83H | c.967C>T (p.Pro323Ser) c.1570C>T (p.Pro524Ser) c.147C>T c.1024C>T (p.Pro342Ser) c.985C>T (p.Pro329Ser) c.1288C>T (p.Pro430Ser) c.1135C>T (p.Pro379Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728494G>C | CA372468976 | FAM83H | c.967C>G (p.Pro323Ala) c.1570C>G (p.Pro524Ala) c.147C>G c.1024C>G (p.Pro342Ala) c.985C>G (p.Pro329Ala) c.1288C>G (p.Pro430Ala) c.1135C>G (p.Pro379Ala) | |
| 8 | g.143728494G= | CA1825940803 | FAM83H | c.967C= (p.Pro323=) c.1570C= (p.Pro524=) c.147C= c.1024C= (p.Pro342=) c.985C= (p.Pro329=) c.1288C= (p.Pro430=) c.1135C= (p.Pro379=) | |
| 8 | g.143728494G>T | CA372468977 | FAM83H | c.967C>A (p.Pro323Thr) c.1570C>A (p.Pro524Thr) c.147C>A c.1024C>A (p.Pro342Thr) c.985C>A (p.Pro329Thr) c.1288C>A (p.Pro430Thr) c.1135C>A (p.Pro379Thr) | |
| 8 | g.143728495G>A | CA463519793 | FAM83H | c.966C>T (p.Phe322=) c.1569C>T (p.Phe523=) c.146C>T c.1023C>T (p.Phe341=) c.984C>T (p.Phe328=) c.1287C>T (p.Phe429=) c.1134C>T (p.Phe378=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728495G>C | CA4917541 | FAM83H | c.966C>G (p.Phe322Leu) c.1569C>G (p.Phe523Leu) c.146C>G c.1023C>G (p.Phe341Leu) c.984C>G (p.Phe328Leu) c.1287C>G (p.Phe429Leu) c.1134C>G (p.Phe378Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728495G= | CA1825940804 | FAM83H | c.966C= (p.Phe322=) c.1569C= (p.Phe523=) c.146C= c.1023C= (p.Phe341=) c.984C= (p.Phe328=) c.1287C= (p.Phe429=) c.1134C= (p.Phe378=) | |
| 8 | g.143728495G>T | CA372468978 | FAM83H | c.966C>A (p.Phe322Leu) c.1569C>A (p.Phe523Leu) c.146C>A c.1023C>A (p.Phe341Leu) c.984C>A (p.Phe328Leu) c.1287C>A (p.Phe429Leu) c.1134C>A (p.Phe378Leu) | gnomAD v4 |
| 8 | g.143728496A>C | CA372468979 | FAM83H | c.965T>G (p.Phe322Cys) c.1568T>G (p.Phe523Cys) c.145T>G c.1022T>G (p.Phe341Cys) c.983T>G (p.Phe328Cys) c.1286T>G (p.Phe429Cys) c.1133T>G (p.Phe378Cys) | |
| 8 | g.143728496A>G | CA372468980 | FAM83H | c.965T>C (p.Phe322Ser) c.1568T>C (p.Phe523Ser) c.145T>C c.1022T>C (p.Phe341Ser) c.983T>C (p.Phe328Ser) c.1286T>C (p.Phe429Ser) c.1133T>C (p.Phe378Ser) | gnomAD v4 |
| 8 | g.143728496A>T | CA372468981 | FAM83H | c.965T>A (p.Phe322Tyr) c.1568T>A (p.Phe523Tyr) c.145T>A c.1022T>A (p.Phe341Tyr) c.983T>A (p.Phe328Tyr) c.1286T>A (p.Phe429Tyr) c.1133T>A (p.Phe378Tyr) | |
| 8 | g.143728497A>C | CA372468982 | FAM83H | c.964T>G (p.Phe322Val) c.1567T>G (p.Phe523Val) c.144T>G c.1021T>G (p.Phe341Val) c.982T>G (p.Phe328Val) c.1285T>G (p.Phe429Val) c.1132T>G (p.Phe378Val) | |
| 8 | g.143728497A>G | CA372468983 | FAM83H | c.964T>C (p.Phe322Leu) c.1567T>C (p.Phe523Leu) c.144T>C c.1021T>C (p.Phe341Leu) c.982T>C (p.Phe328Leu) c.1285T>C (p.Phe429Leu) c.1132T>C (p.Phe378Leu) | gnomAD v4 |
| 8 | g.143728497A>T | CA372468984 | FAM83H | c.964T>A (p.Phe322Ile) c.1567T>A (p.Phe523Ile) c.144T>A c.1021T>A (p.Phe341Ile) c.982T>A (p.Phe328Ile) c.1285T>A (p.Phe429Ile) c.1132T>A (p.Phe378Ile) | |
| 8 | g.143728499_143728501del | CA2579273275 | FAM83H | c.962_964del (p.Ser321del) c.1565_1567del (p.Ser522del) c.142_144del c.1019_1021del (p.Ser340del) c.980_982del (p.Ser327del) c.1283_1285del (p.Ser428del) c.1130_1132del (p.Ser377del) | |
| 8 | g.143728498G>A | CA4917542 | FAM83H | c.963C>T (p.Ser321=) c.1566C>T (p.Ser522=) c.143C>T c.1020C>T (p.Ser340=) c.981C>T (p.Ser327=) c.1284C>T (p.Ser428=) c.1131C>T (p.Ser377=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728498G>C | CA463519801 | FAM83H | c.963C>G (p.Ser321=) c.1566C>G (p.Ser522=) c.143C>G c.1020C>G (p.Ser340=) c.981C>G (p.Ser327=) c.1284C>G (p.Ser428=) c.1131C>G (p.Ser377=) | |
| 8 | g.143728498G= | CA1825940805 | FAM83H | c.963C= (p.Ser321=) c.1566C= (p.Ser522=) c.143C= c.1020C= (p.Ser340=) c.981C= (p.Ser327=) c.1284C= (p.Ser428=) c.1131C= (p.Ser377=) | |
| 8 | g.143728498G>T | CA463519802 | FAM83H | c.963C>A (p.Ser321=) c.1566C>A (p.Ser522=) c.143C>A c.1020C>A (p.Ser340=) c.981C>A (p.Ser327=) c.1284C>A (p.Ser428=) c.1131C>A (p.Ser377=) | gnomAD v4 |
| 8 | g.143728499G>A | CA372468985 | FAM83H | c.962C>T (p.Ser321Phe) c.1565C>T (p.Ser522Phe) c.142C>T c.1019C>T (p.Ser340Phe) c.980C>T (p.Ser327Phe) c.1283C>T (p.Ser428Phe) c.1130C>T (p.Ser377Phe) | gnomAD v4 |
| 8 | g.143728499G>C | CA372468986 | FAM83H | c.962C>G (p.Ser321Cys) c.1565C>G (p.Ser522Cys) c.142C>G c.1019C>G (p.Ser340Cys) c.980C>G (p.Ser327Cys) c.1283C>G (p.Ser428Cys) c.1130C>G (p.Ser377Cys) | gnomAD v4 |
| 8 | g.143728499G>T | CA372468987 | FAM83H | c.962C>A (p.Ser321Tyr) c.1565C>A (p.Ser522Tyr) c.142C>A c.1019C>A (p.Ser340Tyr) c.980C>A (p.Ser327Tyr) c.1283C>A (p.Ser428Tyr) c.1130C>A (p.Ser377Tyr) | gnomAD v4 |
| 8 | g.143728500A>C | CA372468988 | FAM83H | c.961T>G (p.Ser321Ala) c.1564T>G (p.Ser522Ala) c.141T>G c.1018T>G (p.Ser340Ala) c.979T>G (p.Ser327Ala) c.1282T>G (p.Ser428Ala) c.1129T>G (p.Ser377Ala) | |
| 8 | g.143728500A>G | CA372468990 | FAM83H | c.961T>C (p.Ser321Pro) c.1564T>C (p.Ser522Pro) c.141T>C c.1018T>C (p.Ser340Pro) c.979T>C (p.Ser327Pro) c.1282T>C (p.Ser428Pro) c.1129T>C (p.Ser377Pro) | gnomAD v4 |
| 8 | g.143728500A>T | CA372468989 | FAM83H | c.961T>A (p.Ser321Thr) c.1564T>A (p.Ser522Thr) c.141T>A c.1018T>A (p.Ser340Thr) c.979T>A (p.Ser327Thr) c.1282T>A (p.Ser428Thr) c.1129T>A (p.Ser377Thr) | |
| 8 | g.143728501G>A | CA463519812 | FAM83H | c.960C>T (p.Phe320=) c.1563C>T (p.Phe521=) c.140C>T c.1017C>T (p.Phe339=) c.978C>T (p.Phe326=) c.1281C>T (p.Phe427=) c.1128C>T (p.Phe376=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.143728501G>C | CA372468991 | FAM83H | c.960C>G (p.Phe320Leu) c.1563C>G (p.Phe521Leu) c.140C>G c.1017C>G (p.Phe339Leu) c.978C>G (p.Phe326Leu) c.1281C>G (p.Phe427Leu) c.1128C>G (p.Phe376Leu) | |
| 8 | g.143728501G= | CA1825940806 | FAM83H | c.960C= (p.Phe320=) c.1563C= (p.Phe521=) c.140C= c.1017C= (p.Phe339=) c.978C= (p.Phe326=) c.1281C= (p.Phe427=) c.1128C= (p.Phe376=) | |
| 8 | g.143728501G>T | CA372468992 | FAM83H | c.960C>A (p.Phe320Leu) c.1563C>A (p.Phe521Leu) c.140C>A c.1017C>A (p.Phe339Leu) c.978C>A (p.Phe326Leu) c.1281C>A (p.Phe427Leu) c.1128C>A (p.Phe376Leu) | gnomAD v4 |
| 8 | g.143728502A>C | CA372468993 | FAM83H | c.959T>G (p.Phe320Cys) c.1562T>G (p.Phe521Cys) c.139T>G c.1016T>G (p.Phe339Cys) c.977T>G (p.Phe326Cys) c.1280T>G (p.Phe427Cys) c.1127T>G (p.Phe376Cys) | |
| 8 | g.143728502A>G | CA372468994 | FAM83H | c.959T>C (p.Phe320Ser) c.1562T>C (p.Phe521Ser) c.139T>C c.1016T>C (p.Phe339Ser) c.977T>C (p.Phe326Ser) c.1280T>C (p.Phe427Ser) c.1127T>C (p.Phe376Ser) | |
| 8 | g.143728502A>T | CA372468995 | FAM83H | c.959T>A (p.Phe320Tyr) c.1562T>A (p.Phe521Tyr) c.139T>A c.1016T>A (p.Phe339Tyr) c.977T>A (p.Phe326Tyr) c.1280T>A (p.Phe427Tyr) c.1127T>A (p.Phe376Tyr) | gnomAD v4 |
| 8 | g.143728503A>C | CA372468996 | FAM83H | c.958T>G (p.Phe320Val) c.1561T>G (p.Phe521Val) c.138T>G c.1015T>G (p.Phe339Val) c.976T>G (p.Phe326Val) c.1279T>G (p.Phe427Val) c.1126T>G (p.Phe376Val) | |
| 8 | g.143728503A>G | CA372468997 | FAM83H | c.958T>C (p.Phe320Leu) c.1561T>C (p.Phe521Leu) c.138T>C c.1015T>C (p.Phe339Leu) c.976T>C (p.Phe326Leu) c.1279T>C (p.Phe427Leu) c.1126T>C (p.Phe376Leu) | |
| 8 | g.143728503A>T | CA372468998 | FAM83H | c.958T>A (p.Phe320Ile) c.1561T>A (p.Phe521Ile) c.138T>A c.1015T>A (p.Phe339Ile) c.976T>A (p.Phe326Ile) c.1279T>A (p.Phe427Ile) c.1126T>A (p.Phe376Ile) | gnomAD v4 |
| 8 | g.143728504G>A | CA463519819 | FAM83H | c.957C>T (p.Pro319=) c.1560C>T (p.Pro520=) c.137C>T c.1014C>T (p.Pro338=) c.975C>T (p.Pro325=) c.1278C>T (p.Pro426=) c.1125C>T (p.Pro375=) | gnomAD v4 |
| 8 | g.143728504G>C | CA463519821 | FAM83H | c.957C>G (p.Pro319=) c.1560C>G (p.Pro520=) c.137C>G c.1014C>G (p.Pro338=) c.975C>G (p.Pro325=) c.1278C>G (p.Pro426=) c.1125C>G (p.Pro375=) | |
| 8 | g.143728504G>T | CA463519822 | FAM83H | c.957C>A (p.Pro319=) c.1560C>A (p.Pro520=) c.137C>A c.1014C>A (p.Pro338=) c.975C>A (p.Pro325=) c.1278C>A (p.Pro426=) c.1125C>A (p.Pro375=) | |
| 8 | g.143728505G>A | CA4917543 | FAM83H | c.956C>T (p.Pro319Leu) c.1559C>T (p.Pro520Leu) c.136C>T c.1013C>T (p.Pro338Leu) c.974C>T (p.Pro325Leu) c.1277C>T (p.Pro426Leu) c.1124C>T (p.Pro375Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728505G>C | CA372468999 | FAM83H | c.956C>G (p.Pro319Arg) c.1559C>G (p.Pro520Arg) c.136C>G c.1013C>G (p.Pro338Arg) c.974C>G (p.Pro325Arg) c.1277C>G (p.Pro426Arg) c.1124C>G (p.Pro375Arg) | |
| 8 | g.143728505G= | CA1825940807 | FAM83H | c.956C= (p.Pro319=) c.1559C= (p.Pro520=) c.136C= c.1013C= (p.Pro338=) c.974C= (p.Pro325=) c.1277C= (p.Pro426=) c.1124C= (p.Pro375=) | |
| 8 | g.143728505G>T | CA372469000 | FAM83H | c.956C>A (p.Pro319His) c.1559C>A (p.Pro520His) c.136C>A c.1013C>A (p.Pro338His) c.974C>A (p.Pro325His) c.1277C>A (p.Pro426His) c.1124C>A (p.Pro375His) | gnomAD v4 |
| 8 | g.143728506G>A | CA372469001 | FAM83H | c.955C>T (p.Pro319Ser) c.1558C>T (p.Pro520Ser) c.135C>T c.1012C>T (p.Pro338Ser) c.973C>T (p.Pro325Ser) c.1276C>T (p.Pro426Ser) c.1123C>T (p.Pro375Ser) | gnomAD v4 |
| 8 | g.143728506G>C | CA4917544 | FAM83H | c.955C>G (p.Pro319Ala) c.1558C>G (p.Pro520Ala) c.135C>G c.1012C>G (p.Pro338Ala) c.973C>G (p.Pro325Ala) c.1276C>G (p.Pro426Ala) c.1123C>G (p.Pro375Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728506G= | CA1825940808 | FAM83H | c.955C= (p.Pro319=) c.1558C= (p.Pro520=) c.135C= c.1012C= (p.Pro338=) c.973C= (p.Pro325=) c.1276C= (p.Pro426=) c.1123C= (p.Pro375=) | |
| 8 | g.143728506G>T | CA372469002 | FAM83H | c.955C>A (p.Pro319Thr) c.1558C>A (p.Pro520Thr) c.135C>A c.1012C>A (p.Pro338Thr) c.973C>A (p.Pro325Thr) c.1276C>A (p.Pro426Thr) c.1123C>A (p.Pro375Thr) | |
| 8 | g.143728507G>A | CA463519828 | FAM83H | c.954C>T (p.Thr318=) c.1557C>T (p.Thr519=) c.134C>T c.1011C>T (p.Thr337=) c.972C>T (p.Thr324=) c.1275C>T (p.Thr425=) c.1122C>T (p.Thr374=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728507G>C | CA463519829 | FAM83H | c.954C>G (p.Thr318=) c.1557C>G (p.Thr519=) c.134C>G c.1011C>G (p.Thr337=) c.972C>G (p.Thr324=) c.1275C>G (p.Thr425=) c.1122C>G (p.Thr374=) | gnomAD v4 |
| 8 | g.143728507G= | CA1825940809 | FAM83H | c.954C= (p.Thr318=) c.1557C= (p.Thr519=) c.134C= c.1011C= (p.Thr337=) c.972C= (p.Thr324=) c.1275C= (p.Thr425=) c.1122C= (p.Thr374=) | |
| 8 | g.143728507G>T | CA4917545 | FAM83H | c.954C>A (p.Thr318=) c.1557C>A (p.Thr519=) c.134C>A c.1011C>A (p.Thr337=) c.972C>A (p.Thr324=) c.1275C>A (p.Thr425=) c.1122C>A (p.Thr374=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.143728508G>A | CA372469003 | FAM83H | c.953C>T (p.Thr318Ile) c.1556C>T (p.Thr519Ile) c.133C>T c.1010C>T (p.Thr337Ile) c.971C>T (p.Thr324Ile) c.1274C>T (p.Thr425Ile) c.1121C>T (p.Thr374Ile) | gnomAD v4 |
| 8 | g.143728508G>C | CA372469005 | FAM83H | c.953C>G (p.Thr318Ser) c.1556C>G (p.Thr519Ser) c.133C>G c.1010C>G (p.Thr337Ser) c.971C>G (p.Thr324Ser) c.1274C>G (p.Thr425Ser) c.1121C>G (p.Thr374Ser) | |
| 8 | g.143728508G>T | CA372469004 | FAM83H | c.953C>A (p.Thr318Asn) c.1556C>A (p.Thr519Asn) c.133C>A c.1010C>A (p.Thr337Asn) c.971C>A (p.Thr324Asn) c.1274C>A (p.Thr425Asn) c.1121C>A (p.Thr374Asn) | gnomAD v4 |
| 8 | g.143728509T>A | CA4917546 | FAM83H | c.952A>T (p.Thr318Ser) c.1555A>T (p.Thr519Ser) c.132A>T c.1009A>T (p.Thr337Ser) c.970A>T (p.Thr324Ser) c.1273A>T (p.Thr425Ser) c.1120A>T (p.Thr374Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728509T>C | CA372469006 | FAM83H | c.952A>G (p.Thr318Ala) c.1555A>G (p.Thr519Ala) c.132A>G c.1009A>G (p.Thr337Ala) c.970A>G (p.Thr324Ala) c.1273A>G (p.Thr425Ala) c.1120A>G (p.Thr374Ala) | |
| 8 | g.143728509T>G | CA372469007 | FAM83H | c.952A>C (p.Thr318Pro) c.1555A>C (p.Thr519Pro) c.132A>C c.1009A>C (p.Thr337Pro) c.970A>C (p.Thr324Pro) c.1273A>C (p.Thr425Pro) c.1120A>C (p.Thr374Pro) | |
| 8 | g.143728509T= | CA1825940810 | FAM83H | c.952A= (p.Thr318=) c.1555A= (p.Thr519=) c.132A= c.1009A= (p.Thr337=) c.970A= (p.Thr324=) c.1273A= (p.Thr425=) c.1120A= (p.Thr374=) | |
| 8 | g.143728510T>A | CA463519834 | FAM83H | c.951A>T (p.Pro317=) c.1554A>T (p.Pro518=) c.131A>T c.1008A>T (p.Pro336=) c.969A>T (p.Pro323=) c.1272A>T (p.Pro424=) c.1119A>T (p.Pro373=) | |
| 8 | g.143728510T>C | CA4917547 | FAM83H | c.951A>G (p.Pro317=) c.1554A>G (p.Pro518=) c.131A>G c.1008A>G (p.Pro336=) c.969A>G (p.Pro323=) c.1272A>G (p.Pro424=) c.1119A>G (p.Pro373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728510T>G | CA463519837 | FAM83H | c.951A>C (p.Pro317=) c.1554A>C (p.Pro518=) c.131A>C c.1008A>C (p.Pro336=) c.969A>C (p.Pro323=) c.1272A>C (p.Pro424=) c.1119A>C (p.Pro373=) | |
| 8 | g.143728510T= | CA1825940811 | FAM83H | c.951A= (p.Pro317=) c.1554A= (p.Pro518=) c.131A= c.1008A= (p.Pro336=) c.969A= (p.Pro323=) c.1272A= (p.Pro424=) c.1119A= (p.Pro373=) | |
| 8 | g.143728510_143728513del | CA2688981240 | FAM83H | c.948_951del (p.Thr318ProfsTer?) c.1551_1554del (p.Thr519ProfsTer?) c.128_131del c.1005_1008del (p.Thr337ProfsTer?) c.966_969del (p.Thr324ProfsTer?) c.1269_1272del (p.Thr425ProfsTer?) c.1116_1119del (p.Thr374ProfsTer?) | gnomAD v4 |
| 8 | g.143728511G>A | CA372469008 | FAM83H | c.950C>T (p.Pro317Leu) c.1553C>T (p.Pro518Leu) c.130C>T c.1007C>T (p.Pro336Leu) c.968C>T (p.Pro323Leu) c.1271C>T (p.Pro424Leu) c.1118C>T (p.Pro373Leu) | gnomAD v4 |
| 8 | g.143728511G>C | CA372469009 | FAM83H | c.950C>G (p.Pro317Arg) c.1553C>G (p.Pro518Arg) c.130C>G c.1007C>G (p.Pro336Arg) c.968C>G (p.Pro323Arg) c.1271C>G (p.Pro424Arg) c.1118C>G (p.Pro373Arg) | |
| 8 | g.143728511G= | CA1825940812 | FAM83H | c.950C= (p.Pro317=) c.1553C= (p.Pro518=) c.130C= c.1007C= (p.Pro336=) c.968C= (p.Pro323=) c.1271C= (p.Pro424=) c.1118C= (p.Pro373=) | |
| 8 | g.143728511G>T | CA372469010 | FAM83H | c.950C>A (p.Pro317Gln) c.1553C>A (p.Pro518Gln) c.130C>A c.1007C>A (p.Pro336Gln) c.968C>A (p.Pro323Gln) c.1271C>A (p.Pro424Gln) c.1118C>A (p.Pro373Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.143728512G>A | CA372469011 | FAM83H | c.949C>T (p.Pro317Ser) c.1552C>T (p.Pro518Ser) c.129C>T c.1006C>T (p.Pro336Ser) c.967C>T (p.Pro323Ser) c.1270C>T (p.Pro424Ser) c.1117C>T (p.Pro373Ser) | |
| 8 | g.143728512G>C | CA4917548 | FAM83H | c.949C>G (p.Pro317Ala) c.1552C>G (p.Pro518Ala) c.129C>G c.1006C>G (p.Pro336Ala) c.967C>G (p.Pro323Ala) c.1270C>G (p.Pro424Ala) c.1117C>G (p.Pro373Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143728512G= | CA1825940813 | FAM83H | c.949C= (p.Pro317=) c.1552C= (p.Pro518=) c.129C= c.1006C= (p.Pro336=) c.967C= (p.Pro323=) c.1270C= (p.Pro424=) c.1117C= (p.Pro373=) | |
| 8 | g.143728512G>T | CA372469012 | FAM83H | c.949C>A (p.Pro317Thr) c.1552C>A (p.Pro518Thr) c.129C>A c.1006C>A (p.Pro336Thr) c.967C>A (p.Pro323Thr) c.1270C>A (p.Pro424Thr) c.1117C>A (p.Pro373Thr) |