Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.32611089_32611178del | CA2695216221 | FGD4 | c.1192-48_1233del c.1447-48_1488del c.913-48_954del c.4-48_45del n.699-48_740del c.1603-48_1644del c.*584-48_*625del c.*603-48_*644del c.781-48_822del c.1528-48_1569del c.*561-48_*602del c.448-48_489del c.160-48_201del c.1684-48_1725del c.1486-48_1527del c.640-48_681del c.595-48_636del c.427-48_468del c.301-48_342del n.1893-48_1934del | |
12 | g.32611143C>A | CA384360948 | FGD4 | c.1198C>A (p.Leu400Ile) c.1453C>A (p.Leu485Ile) c.919C>A (p.Leu307Ile) c.10C>A (p.Leu4Ile) n.705C>A c.1609C>A (p.Leu537Ile) c.*590C>A (n.*590C>A) c.*609C>A (n.*609C>A) c.787C>A c.1534C>A (p.Leu512Ile) c.*567C>A (n.*567C>A) c.454C>A (p.Leu152Ile) c.166C>A (p.Leu56Ile) c.1690C>A (p.Leu564Ile) c.1492C>A (p.Leu498Ile) c.646C>A (p.Leu216Ile) c.601C>A (p.Leu201Ile) c.433C>A (p.Leu145Ile) c.307C>A (p.Leu103Ile) n.1899C>A | |
12 | g.32611143C= | CA2026267773 | FGD4 | c.1198C= (p.Leu400=) c.1453C= (p.Leu485=) c.919C= (p.Leu307=) c.10C= (p.Leu4=) n.705C= c.1609C= (p.Leu537=) c.*590C= (n.*590C=) c.*609C= (n.*609C=) c.787C= c.1534C= (p.Leu512=) c.*567C= (n.*567C=) c.454C= (p.Leu152=) c.166C= (p.Leu56=) c.1690C= (p.Leu564=) c.1492C= (p.Leu498=) c.646C= (p.Leu216=) c.601C= (p.Leu201=) c.433C= (p.Leu145=) c.307C= (p.Leu103=) n.1899C= | |
12 | g.32611143C>G | CA6506846 | FGD4 | c.1198C>G (p.Leu400Val) c.1453C>G (p.Leu485Val) c.919C>G (p.Leu307Val) c.10C>G (p.Leu4Val) n.705C>G c.1609C>G (p.Leu537Val) c.*590C>G (n.*590C>G) c.*609C>G (n.*609C>G) c.787C>G c.1534C>G (p.Leu512Val) c.*567C>G (n.*567C>G) c.454C>G (p.Leu152Val) c.166C>G (p.Leu56Val) c.1690C>G (p.Leu564Val) c.1492C>G (p.Leu498Val) c.646C>G (p.Leu216Val) c.601C>G (p.Leu201Val) c.433C>G (p.Leu145Val) c.307C>G (p.Leu103Val) n.1899C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
12 | g.32611143C>T | CA6506845 | FGD4 | c.1198C>T (p.Leu400=) c.1453C>T (p.Leu485=) c.919C>T (p.Leu307=) c.10C>T (p.Leu4=) n.705C>T c.1609C>T (p.Leu537=) c.*590C>T (n.*590C>T) c.*609C>T (n.*609C>T) c.787C>T c.1534C>T (p.Leu512=) c.*567C>T (n.*567C>T) c.454C>T (p.Leu152=) c.166C>T (p.Leu56=) c.1690C>T (p.Leu564=) c.1492C>T (p.Leu498=) c.646C>T (p.Leu216=) c.601C>T (p.Leu201=) c.433C>T (p.Leu145=) c.307C>T (p.Leu103=) n.1899C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.32611144T>A | CA384360949 | FGD4 | c.1199T>A (p.Leu400Gln) c.1454T>A (p.Leu485Gln) c.920T>A (p.Leu307Gln) c.11T>A (p.Leu4Gln) n.706T>A c.1610T>A (p.Leu537Gln) c.*591T>A (n.*591T>A) c.*610T>A (n.*610T>A) c.788T>A c.1535T>A (p.Leu512Gln) c.*568T>A (n.*568T>A) c.455T>A (p.Leu152Gln) c.167T>A (p.Leu56Gln) c.1691T>A (p.Leu564Gln) c.1493T>A (p.Leu498Gln) c.647T>A (p.Leu216Gln) c.602T>A (p.Leu201Gln) c.434T>A (p.Leu145Gln) c.308T>A (p.Leu103Gln) n.1900T>A | |
12 | g.32611144T>C | CA384360950 | FGD4 | c.1199T>C (p.Leu400Pro) c.1454T>C (p.Leu485Pro) c.920T>C (p.Leu307Pro) c.11T>C (p.Leu4Pro) n.706T>C c.1610T>C (p.Leu537Pro) c.*591T>C (n.*591T>C) c.*610T>C (n.*610T>C) c.788T>C c.1535T>C (p.Leu512Pro) c.*568T>C (n.*568T>C) c.455T>C (p.Leu152Pro) c.167T>C (p.Leu56Pro) c.1691T>C (p.Leu564Pro) c.1493T>C (p.Leu498Pro) c.647T>C (p.Leu216Pro) c.602T>C (p.Leu201Pro) c.434T>C (p.Leu145Pro) c.308T>C (p.Leu103Pro) n.1900T>C | |
12 | g.32611144T>G | CA384360951 | FGD4 | c.1199T>G (p.Leu400Arg) c.1454T>G (p.Leu485Arg) c.920T>G (p.Leu307Arg) c.11T>G (p.Leu4Arg) n.706T>G c.1610T>G (p.Leu537Arg) c.*591T>G (n.*591T>G) c.*610T>G (n.*610T>G) c.788T>G c.1535T>G (p.Leu512Arg) c.*568T>G (n.*568T>G) c.455T>G (p.Leu152Arg) c.167T>G (p.Leu56Arg) c.1691T>G (p.Leu564Arg) c.1493T>G (p.Leu498Arg) c.647T>G (p.Leu216Arg) c.602T>G (p.Leu201Arg) c.434T>G (p.Leu145Arg) c.308T>G (p.Leu103Arg) n.1900T>G | |
12 | g.32611145A= | CA2026267774 | FGD4 | c.1200A= (p.Leu400=) c.1455A= (p.Leu485=) c.921A= (p.Leu307=) c.12A= (p.Leu4=) n.707A= c.1611A= (p.Leu537=) c.*592A= (n.*592A=) c.*611A= (n.*611A=) c.789A= c.1536A= (p.Leu512=) c.*569A= (n.*569A=) c.456A= (p.Leu152=) c.168A= (p.Leu56=) c.1692A= (p.Leu564=) c.1494A= (p.Leu498=) c.648A= (p.Leu216=) c.603A= (p.Leu201=) c.435A= (p.Leu145=) c.309A= (p.Leu103=) n.1901A= | |
12 | g.32611145A>C | CA479167759 | FGD4 | c.1200A>C (p.Leu400=) c.1455A>C (p.Leu485=) c.921A>C (p.Leu307=) c.12A>C (p.Leu4=) n.707A>C c.1611A>C (p.Leu537=) c.*592A>C (n.*592A>C) c.*611A>C (n.*611A>C) c.789A>C c.1536A>C (p.Leu512=) c.*569A>C (n.*569A>C) c.456A>C (p.Leu152=) c.168A>C (p.Leu56=) c.1692A>C (p.Leu564=) c.1494A>C (p.Leu498=) c.648A>C (p.Leu216=) c.603A>C (p.Leu201=) c.435A>C (p.Leu145=) c.309A>C (p.Leu103=) n.1901A>C | gnomAD v4 |
12 | g.32611145A>G | CA479167757 | FGD4 | c.1200A>G (p.Leu400=) c.1455A>G (p.Leu485=) c.921A>G (p.Leu307=) c.12A>G (p.Leu4=) n.707A>G c.1611A>G (p.Leu537=) c.*592A>G (n.*592A>G) c.*611A>G (n.*611A>G) c.789A>G c.1536A>G (p.Leu512=) c.*569A>G (n.*569A>G) c.456A>G (p.Leu152=) c.168A>G (p.Leu56=) c.1692A>G (p.Leu564=) c.1494A>G (p.Leu498=) c.648A>G (p.Leu216=) c.603A>G (p.Leu201=) c.435A>G (p.Leu145=) c.309A>G (p.Leu103=) n.1901A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.32611145A>T | CA479167755 | FGD4 | c.1200A>T (p.Leu400=) c.1455A>T (p.Leu485=) c.921A>T (p.Leu307=) c.12A>T (p.Leu4=) n.707A>T c.1611A>T (p.Leu537=) c.*592A>T (n.*592A>T) c.*611A>T (n.*611A>T) c.789A>T c.1536A>T (p.Leu512=) c.*569A>T (n.*569A>T) c.456A>T (p.Leu152=) c.168A>T (p.Leu56=) c.1692A>T (p.Leu564=) c.1494A>T (p.Leu498=) c.648A>T (p.Leu216=) c.603A>T (p.Leu201=) c.435A>T (p.Leu145=) c.309A>T (p.Leu103=) n.1901A>T | |
12 | g.32611146A= | CA2026267775 | FGD4 | c.1201A= (p.Lys401=) c.1456A= (p.Lys486=) c.922A= (p.Lys308=) c.13A= (p.Lys5=) n.708A= c.1612A= (p.Lys538=) c.*593A= (n.*593A=) c.*612A= (n.*612A=) c.790A= c.1537A= (p.Lys513=) c.*570A= (n.*570A=) c.457A= (p.Lys153=) c.169A= (p.Lys57=) c.1693A= (p.Lys565=) c.1495A= (p.Lys499=) c.649A= (p.Lys217=) c.604A= (p.Lys202=) c.436A= (p.Lys146=) c.310A= (p.Lys104=) n.1902A= | |
12 | g.32611146A>C | CA6506847 | FGD4 | c.1201A>C (p.Lys401Gln) c.1456A>C (p.Lys486Gln) c.922A>C (p.Lys308Gln) c.13A>C (p.Lys5Gln) n.708A>C c.1612A>C (p.Lys538Gln) c.*593A>C (n.*593A>C) c.*612A>C (n.*612A>C) c.790A>C c.1537A>C (p.Lys513Gln) c.*570A>C (n.*570A>C) c.457A>C (p.Lys153Gln) c.169A>C (p.Lys57Gln) c.1693A>C (p.Lys565Gln) c.1495A>C (p.Lys499Gln) c.649A>C (p.Lys217Gln) c.604A>C (p.Lys202Gln) c.436A>C (p.Lys146Gln) c.310A>C (p.Lys104Gln) n.1902A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611146A>G | CA384360953 | FGD4 | c.1201A>G (p.Lys401Glu) c.1456A>G (p.Lys486Glu) c.922A>G (p.Lys308Glu) c.13A>G (p.Lys5Glu) n.708A>G c.1612A>G (p.Lys538Glu) c.*593A>G (n.*593A>G) c.*612A>G (n.*612A>G) c.790A>G c.1537A>G (p.Lys513Glu) c.*570A>G (n.*570A>G) c.457A>G (p.Lys153Glu) c.169A>G (p.Lys57Glu) c.1693A>G (p.Lys565Glu) c.1495A>G (p.Lys499Glu) c.649A>G (p.Lys217Glu) c.604A>G (p.Lys202Glu) c.436A>G (p.Lys146Glu) c.310A>G (p.Lys104Glu) n.1902A>G | |
12 | g.32611146A>T | CA384360952 | FGD4 | c.1201A>T (p.Lys401Ter) c.1456A>T (p.Lys486Ter) c.922A>T (p.Lys308Ter) c.13A>T (p.Lys5Ter) n.708A>T c.1612A>T (p.Lys538Ter) c.*593A>T (n.*593A>T) c.*612A>T (n.*612A>T) c.790A>T c.1537A>T (p.Lys513Ter) c.*570A>T (n.*570A>T) c.457A>T (p.Lys153Ter) c.169A>T (p.Lys57Ter) c.1693A>T (p.Lys565Ter) c.1495A>T (p.Lys499Ter) c.649A>T (p.Lys217Ter) c.604A>T (p.Lys202Ter) c.436A>T (p.Lys146Ter) c.310A>T (p.Lys104Ter) n.1902A>T | |
12 | g.32611147A>C | CA384360954 | FGD4 | c.1202A>C (p.Lys401Thr) c.1457A>C (p.Lys486Thr) c.923A>C (p.Lys308Thr) c.14A>C (p.Lys5Thr) n.709A>C c.1613A>C (p.Lys538Thr) c.*594A>C (n.*594A>C) c.*613A>C (n.*613A>C) c.791A>C c.1538A>C (p.Lys513Thr) c.*571A>C (n.*571A>C) c.458A>C (p.Lys153Thr) c.170A>C (p.Lys57Thr) c.1694A>C (p.Lys565Thr) c.1496A>C (p.Lys499Thr) c.650A>C (p.Lys217Thr) c.605A>C (p.Lys202Thr) c.437A>C (p.Lys146Thr) c.311A>C (p.Lys104Thr) n.1903A>C | |
12 | g.32611147A>G | CA384360956 | FGD4 | c.1202A>G (p.Lys401Arg) c.1457A>G (p.Lys486Arg) c.923A>G (p.Lys308Arg) c.14A>G (p.Lys5Arg) n.709A>G c.1613A>G (p.Lys538Arg) c.*594A>G (n.*594A>G) c.*613A>G (n.*613A>G) c.791A>G c.1538A>G (p.Lys513Arg) c.*571A>G (n.*571A>G) c.458A>G (p.Lys153Arg) c.170A>G (p.Lys57Arg) c.1694A>G (p.Lys565Arg) c.1496A>G (p.Lys499Arg) c.650A>G (p.Lys217Arg) c.605A>G (p.Lys202Arg) c.437A>G (p.Lys146Arg) c.311A>G (p.Lys104Arg) n.1903A>G | COSMIC COSMIC COSMIC |
12 | g.32611147A>T | CA384360955 | FGD4 | c.1202A>T (p.Lys401Met) c.1457A>T (p.Lys486Met) c.923A>T (p.Lys308Met) c.14A>T (p.Lys5Met) n.709A>T c.1613A>T (p.Lys538Met) c.*594A>T (n.*594A>T) c.*613A>T (n.*613A>T) c.791A>T c.1538A>T (p.Lys513Met) c.*571A>T (n.*571A>T) c.458A>T (p.Lys153Met) c.170A>T (p.Lys57Met) c.1694A>T (p.Lys565Met) c.1496A>T (p.Lys499Met) c.650A>T (p.Lys217Met) c.605A>T (p.Lys202Met) c.437A>T (p.Lys146Met) c.311A>T (p.Lys104Met) n.1903A>T | |
12 | g.32611148G>A | CA479167763 | FGD4 | c.1203G>A (p.Lys401=) c.1458G>A (p.Lys486=) c.924G>A (p.Lys308=) c.15G>A (p.Lys5=) n.710G>A c.1614G>A (p.Lys538=) c.*595G>A (n.*595G>A) c.*614G>A (n.*614G>A) c.792G>A c.1539G>A (p.Lys513=) c.*572G>A (n.*572G>A) c.459G>A (p.Lys153=) c.171G>A (p.Lys57=) c.1695G>A (p.Lys565=) c.1497G>A (p.Lys499=) c.651G>A (p.Lys217=) c.606G>A (p.Lys202=) c.438G>A (p.Lys146=) c.312G>A (p.Lys104=) n.1904G>A | |
12 | g.32611148G>C | CA384360957 | FGD4 | c.1203G>C (p.Lys401Asn) c.1458G>C (p.Lys486Asn) c.924G>C (p.Lys308Asn) c.15G>C (p.Lys5Asn) n.710G>C c.1614G>C (p.Lys538Asn) c.*595G>C (n.*595G>C) c.*614G>C (n.*614G>C) c.792G>C c.1539G>C (p.Lys513Asn) c.*572G>C (n.*572G>C) c.459G>C (p.Lys153Asn) c.171G>C (p.Lys57Asn) c.1695G>C (p.Lys565Asn) c.1497G>C (p.Lys499Asn) c.651G>C (p.Lys217Asn) c.606G>C (p.Lys202Asn) c.438G>C (p.Lys146Asn) c.312G>C (p.Lys104Asn) n.1904G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.32611148G= | CA2026267776 | FGD4 | c.1203G= (p.Lys401=) c.1458G= (p.Lys486=) c.924G= (p.Lys308=) c.15G= (p.Lys5=) n.710G= c.1614G= (p.Lys538=) c.*595G= (n.*595G=) c.*614G= (n.*614G=) c.792G= c.1539G= (p.Lys513=) c.*572G= (n.*572G=) c.459G= (p.Lys153=) c.171G= (p.Lys57=) c.1695G= (p.Lys565=) c.1497G= (p.Lys499=) c.651G= (p.Lys217=) c.606G= (p.Lys202=) c.438G= (p.Lys146=) c.312G= (p.Lys104=) n.1904G= | |
12 | g.32611148G>T | CA384360958 | FGD4 | c.1203G>T (p.Lys401Asn) c.1458G>T (p.Lys486Asn) c.924G>T (p.Lys308Asn) c.15G>T (p.Lys5Asn) n.710G>T c.1614G>T (p.Lys538Asn) c.*595G>T (n.*595G>T) c.*614G>T (n.*614G>T) c.792G>T c.1539G>T (p.Lys513Asn) c.*572G>T (n.*572G>T) c.459G>T (p.Lys153Asn) c.171G>T (p.Lys57Asn) c.1695G>T (p.Lys565Asn) c.1497G>T (p.Lys499Asn) c.651G>T (p.Lys217Asn) c.606G>T (p.Lys202Asn) c.438G>T (p.Lys146Asn) c.312G>T (p.Lys104Asn) n.1904G>T | |
12 | g.32611149A>C | CA384360959 | FGD4 | c.1204A>C (p.Lys402Gln) c.1459A>C (p.Lys487Gln) c.925A>C (p.Lys309Gln) c.16A>C (p.Lys6Gln) n.711A>C c.1615A>C (p.Lys539Gln) c.*596A>C (n.*596A>C) c.*615A>C (n.*615A>C) c.793A>C c.1540A>C (p.Lys514Gln) c.*573A>C (n.*573A>C) c.460A>C (p.Lys154Gln) c.172A>C (p.Lys58Gln) c.1696A>C (p.Lys566Gln) c.1498A>C (p.Lys500Gln) c.652A>C (p.Lys218Gln) c.607A>C (p.Lys203Gln) c.439A>C (p.Lys147Gln) c.313A>C (p.Lys105Gln) n.1905A>C | |
12 | g.32611149A>G | CA384360960 | FGD4 | c.1204A>G (p.Lys402Glu) c.1459A>G (p.Lys487Glu) c.925A>G (p.Lys309Glu) c.16A>G (p.Lys6Glu) n.711A>G c.1615A>G (p.Lys539Glu) c.*596A>G (n.*596A>G) c.*615A>G (n.*615A>G) c.793A>G c.1540A>G (p.Lys514Glu) c.*573A>G (n.*573A>G) c.460A>G (p.Lys154Glu) c.172A>G (p.Lys58Glu) c.1696A>G (p.Lys566Glu) c.1498A>G (p.Lys500Glu) c.652A>G (p.Lys218Glu) c.607A>G (p.Lys203Glu) c.439A>G (p.Lys147Glu) c.313A>G (p.Lys105Glu) n.1905A>G | gnomAD v4 |
12 | g.32611149A>T | CA384360961 | FGD4 | c.1204A>T (p.Lys402Ter) c.1459A>T (p.Lys487Ter) c.925A>T (p.Lys309Ter) c.16A>T (p.Lys6Ter) n.711A>T c.1615A>T (p.Lys539Ter) c.*596A>T (n.*596A>T) c.*615A>T (n.*615A>T) c.793A>T c.1540A>T (p.Lys514Ter) c.*573A>T (n.*573A>T) c.460A>T (p.Lys154Ter) c.172A>T (p.Lys58Ter) c.1696A>T (p.Lys566Ter) c.1498A>T (p.Lys500Ter) c.652A>T (p.Lys218Ter) c.607A>T (p.Lys203Ter) c.439A>T (p.Lys147Ter) c.313A>T (p.Lys105Ter) n.1905A>T | |
12 | g.32611150A>C | CA384360962 | FGD4 | c.1205A>C (p.Lys402Thr) c.1460A>C (p.Lys487Thr) c.926A>C (p.Lys309Thr) c.17A>C (p.Lys6Thr) n.712A>C c.1616A>C (p.Lys539Thr) c.*597A>C (n.*597A>C) c.*616A>C (n.*616A>C) c.794A>C c.1541A>C (p.Lys514Thr) c.*574A>C (n.*574A>C) c.461A>C (p.Lys154Thr) c.173A>C (p.Lys58Thr) c.1697A>C (p.Lys566Thr) c.1499A>C (p.Lys500Thr) c.653A>C (p.Lys218Thr) c.608A>C (p.Lys203Thr) c.440A>C (p.Lys147Thr) c.314A>C (p.Lys105Thr) n.1906A>C | |
12 | g.32611150A>G | CA384360963 | FGD4 | c.1205A>G (p.Lys402Arg) c.1460A>G (p.Lys487Arg) c.926A>G (p.Lys309Arg) c.17A>G (p.Lys6Arg) n.712A>G c.1616A>G (p.Lys539Arg) c.*597A>G (n.*597A>G) c.*616A>G (n.*616A>G) c.794A>G c.1541A>G (p.Lys514Arg) c.*574A>G (n.*574A>G) c.461A>G (p.Lys154Arg) c.173A>G (p.Lys58Arg) c.1697A>G (p.Lys566Arg) c.1499A>G (p.Lys500Arg) c.653A>G (p.Lys218Arg) c.608A>G (p.Lys203Arg) c.440A>G (p.Lys147Arg) c.314A>G (p.Lys105Arg) n.1906A>G | |
12 | g.32611150A>T | CA384360964 | FGD4 | c.1205A>T (p.Lys402Ile) c.1460A>T (p.Lys487Ile) c.926A>T (p.Lys309Ile) c.17A>T (p.Lys6Ile) n.712A>T c.1616A>T (p.Lys539Ile) c.*597A>T (n.*597A>T) c.*616A>T (n.*616A>T) c.794A>T c.1541A>T (p.Lys514Ile) c.*574A>T (n.*574A>T) c.461A>T (p.Lys154Ile) c.173A>T (p.Lys58Ile) c.1697A>T (p.Lys566Ile) c.1499A>T (p.Lys500Ile) c.653A>T (p.Lys218Ile) c.608A>T (p.Lys203Ile) c.440A>T (p.Lys147Ile) c.314A>T (p.Lys105Ile) n.1906A>T | |
12 | g.32611151A>C | CA384360965 | FGD4 | c.1206A>C (p.Lys402Asn) c.1461A>C (p.Lys487Asn) c.927A>C (p.Lys309Asn) c.18A>C (p.Lys6Asn) n.713A>C c.1617A>C (p.Lys539Asn) c.*598A>C (n.*598A>C) c.*617A>C (n.*617A>C) c.795A>C c.1542A>C (p.Lys514Asn) c.*575A>C (n.*575A>C) c.462A>C (p.Lys154Asn) c.174A>C (p.Lys58Asn) c.1698A>C (p.Lys566Asn) c.1500A>C (p.Lys500Asn) c.654A>C (p.Lys218Asn) c.609A>C (p.Lys203Asn) c.441A>C (p.Lys147Asn) c.315A>C (p.Lys105Asn) n.1907A>C | |
12 | g.32611151A>G | CA479167770 | FGD4 | c.1206A>G (p.Lys402=) c.1461A>G (p.Lys487=) c.927A>G (p.Lys309=) c.18A>G (p.Lys6=) n.713A>G c.1617A>G (p.Lys539=) c.*598A>G (n.*598A>G) c.*617A>G (n.*617A>G) c.795A>G c.1542A>G (p.Lys514=) c.*575A>G (n.*575A>G) c.462A>G (p.Lys154=) c.174A>G (p.Lys58=) c.1698A>G (p.Lys566=) c.1500A>G (p.Lys500=) c.654A>G (p.Lys218=) c.609A>G (p.Lys203=) c.441A>G (p.Lys147=) c.315A>G (p.Lys105=) n.1907A>G | |
12 | g.32611151A>T | CA384360966 | FGD4 | c.1206A>T (p.Lys402Asn) c.1461A>T (p.Lys487Asn) c.927A>T (p.Lys309Asn) c.18A>T (p.Lys6Asn) n.713A>T c.1617A>T (p.Lys539Asn) c.*598A>T (n.*598A>T) c.*617A>T (n.*617A>T) c.795A>T c.1542A>T (p.Lys514Asn) c.*575A>T (n.*575A>T) c.462A>T (p.Lys154Asn) c.174A>T (p.Lys58Asn) c.1698A>T (p.Lys566Asn) c.1500A>T (p.Lys500Asn) c.654A>T (p.Lys218Asn) c.609A>T (p.Lys203Asn) c.441A>T (p.Lys147Asn) c.315A>T (p.Lys105Asn) n.1907A>T | |
12 | g.32611152C>A | CA384360969 | FGD4 | c.1207C>A (p.Leu403Ile) c.1462C>A (p.Leu488Ile) c.928C>A (p.Leu310Ile) c.19C>A (p.Leu7Ile) n.714C>A c.1618C>A (p.Leu540Ile) c.*599C>A (n.*599C>A) c.*618C>A (n.*618C>A) c.796C>A c.1543C>A (p.Leu515Ile) c.*576C>A (n.*576C>A) c.463C>A (p.Leu155Ile) c.175C>A (p.Leu59Ile) c.1699C>A (p.Leu567Ile) c.1501C>A (p.Leu501Ile) c.655C>A (p.Leu219Ile) c.610C>A (p.Leu204Ile) c.442C>A (p.Leu148Ile) c.316C>A (p.Leu106Ile) n.1908C>A | |
12 | g.32611152C>G | CA384360968 | FGD4 | c.1207C>G (p.Leu403Val) c.1462C>G (p.Leu488Val) c.928C>G (p.Leu310Val) c.19C>G (p.Leu7Val) n.714C>G c.1618C>G (p.Leu540Val) c.*599C>G (n.*599C>G) c.*618C>G (n.*618C>G) c.796C>G c.1543C>G (p.Leu515Val) c.*576C>G (n.*576C>G) c.463C>G (p.Leu155Val) c.175C>G (p.Leu59Val) c.1699C>G (p.Leu567Val) c.1501C>G (p.Leu501Val) c.655C>G (p.Leu219Val) c.610C>G (p.Leu204Val) c.442C>G (p.Leu148Val) c.316C>G (p.Leu106Val) n.1908C>G | |
12 | g.32611152C>T | CA384360967 | FGD4 | c.1207C>T (p.Leu403Phe) c.1462C>T (p.Leu488Phe) c.928C>T (p.Leu310Phe) c.19C>T (p.Leu7Phe) n.714C>T c.1618C>T (p.Leu540Phe) c.*599C>T (n.*599C>T) c.*618C>T (n.*618C>T) c.796C>T c.1543C>T (p.Leu515Phe) c.*576C>T (n.*576C>T) c.463C>T (p.Leu155Phe) c.175C>T (p.Leu59Phe) c.1699C>T (p.Leu567Phe) c.1501C>T (p.Leu501Phe) c.655C>T (p.Leu219Phe) c.610C>T (p.Leu204Phe) c.442C>T (p.Leu148Phe) c.316C>T (p.Leu106Phe) n.1908C>T | |
12 | g.32611154_32611155del | CA2575117593 | FGD4 | c.1209_1210del (p.Leu404ArgfsTer4) c.1464_1465del (p.Leu489ArgfsTer4) c.930_931del (p.Leu311ArgfsTer4) c.21_22del (p.Leu8ArgfsTer4) n.716_717del c.1620_1621del (p.Leu541ArgfsTer4) c.*601_*602del (n.*601_*602del) c.*620_*621del (n.*620_*621del) c.798_799del c.1545_1546del (p.Leu516ArgfsTer4) c.*578_*579del (n.*578_*579del) c.465_466del (p.Leu156ArgfsTer4) c.177_178del (p.Leu60ArgfsTer4) c.1701_1702del (p.Leu568ArgfsTer4) c.1503_1504del (p.Leu502ArgfsTer4) c.657_658del (p.Leu220ArgfsTer4) c.612_613del (p.Leu205ArgfsTer4) c.444_445del (p.Leu149ArgfsTer4) c.318_319del (p.Leu107ArgfsTer4) n.1910_1911del | |
12 | g.32611153T>A | CA384360970 | FGD4 | c.1208T>A (p.Leu403His) c.1463T>A (p.Leu488His) c.929T>A (p.Leu310His) c.20T>A (p.Leu7His) n.715T>A c.1619T>A (p.Leu540His) c.*600T>A (n.*600T>A) c.*619T>A (n.*619T>A) c.797T>A c.1544T>A (p.Leu515His) c.*577T>A (n.*577T>A) c.464T>A (p.Leu155His) c.176T>A (p.Leu59His) c.1700T>A (p.Leu567His) c.1502T>A (p.Leu501His) c.656T>A (p.Leu219His) c.611T>A (p.Leu204His) c.443T>A (p.Leu148His) c.317T>A (p.Leu106His) n.1909T>A | |
12 | g.32611153T>C | CA384360971 | FGD4 | c.1208T>C (p.Leu403Pro) c.1463T>C (p.Leu488Pro) c.929T>C (p.Leu310Pro) c.20T>C (p.Leu7Pro) n.715T>C c.1619T>C (p.Leu540Pro) c.*600T>C (n.*600T>C) c.*619T>C (n.*619T>C) c.797T>C c.1544T>C (p.Leu515Pro) c.*577T>C (n.*577T>C) c.464T>C (p.Leu155Pro) c.176T>C (p.Leu59Pro) c.1700T>C (p.Leu567Pro) c.1502T>C (p.Leu501Pro) c.656T>C (p.Leu219Pro) c.611T>C (p.Leu204Pro) c.443T>C (p.Leu148Pro) c.317T>C (p.Leu106Pro) n.1909T>C | |
12 | g.32611153T>G | CA384360972 | FGD4 | c.1208T>G (p.Leu403Arg) c.1463T>G (p.Leu488Arg) c.929T>G (p.Leu310Arg) c.20T>G (p.Leu7Arg) n.715T>G c.1619T>G (p.Leu540Arg) c.*600T>G (n.*600T>G) c.*619T>G (n.*619T>G) c.797T>G c.1544T>G (p.Leu515Arg) c.*577T>G (n.*577T>G) c.464T>G (p.Leu155Arg) c.176T>G (p.Leu59Arg) c.1700T>G (p.Leu567Arg) c.1502T>G (p.Leu501Arg) c.656T>G (p.Leu219Arg) c.611T>G (p.Leu204Arg) c.443T>G (p.Leu148Arg) c.317T>G (p.Leu106Arg) n.1909T>G | ClinVar dbSNP |
12 | g.32611153T= | CA2026267777 | FGD4 | c.1208T= (p.Leu403=) c.1463T= (p.Leu488=) c.929T= (p.Leu310=) c.20T= (p.Leu7=) n.715T= c.1619T= (p.Leu540=) c.*600T= (n.*600T=) c.*619T= (n.*619T=) c.797T= c.1544T= (p.Leu515=) c.*577T= (n.*577T=) c.464T= (p.Leu155=) c.176T= (p.Leu59=) c.1700T= (p.Leu567=) c.1502T= (p.Leu501=) c.656T= (p.Leu219=) c.611T= (p.Leu204=) c.443T= (p.Leu148=) c.317T= (p.Leu106=) n.1909T= | |
12 | g.32611154C>A | CA479167773 | FGD4 | c.1209C>A (p.Leu403=) c.1464C>A (p.Leu488=) c.930C>A (p.Leu310=) c.21C>A (p.Leu7=) n.716C>A c.1620C>A (p.Leu540=) c.*601C>A (n.*601C>A) c.*620C>A (n.*620C>A) c.798C>A c.1545C>A (p.Leu515=) c.*578C>A (n.*578C>A) c.465C>A (p.Leu155=) c.177C>A (p.Leu59=) c.1701C>A (p.Leu567=) c.1503C>A (p.Leu501=) c.657C>A (p.Leu219=) c.612C>A (p.Leu204=) c.444C>A (p.Leu148=) c.318C>A (p.Leu106=) n.1910C>A | |
12 | g.32611154C>G | CA479167774 | FGD4 | c.1209C>G (p.Leu403=) c.1464C>G (p.Leu488=) c.930C>G (p.Leu310=) c.21C>G (p.Leu7=) n.716C>G c.1620C>G (p.Leu540=) c.*601C>G (n.*601C>G) c.*620C>G (n.*620C>G) c.798C>G c.1545C>G (p.Leu515=) c.*578C>G (n.*578C>G) c.465C>G (p.Leu155=) c.177C>G (p.Leu59=) c.1701C>G (p.Leu567=) c.1503C>G (p.Leu501=) c.657C>G (p.Leu219=) c.612C>G (p.Leu204=) c.444C>G (p.Leu148=) c.318C>G (p.Leu106=) n.1910C>G | gnomAD v4 COSMIC COSMIC COSMIC |
12 | g.32611154C>T | CA479167775 | FGD4 | c.1209C>T (p.Leu403=) c.1464C>T (p.Leu488=) c.930C>T (p.Leu310=) c.21C>T (p.Leu7=) n.716C>T c.1620C>T (p.Leu540=) c.*601C>T (n.*601C>T) c.*620C>T (n.*620C>T) c.798C>T c.1545C>T (p.Leu515=) c.*578C>T (n.*578C>T) c.465C>T (p.Leu155=) c.177C>T (p.Leu59=) c.1701C>T (p.Leu567=) c.1503C>T (p.Leu501=) c.657C>T (p.Leu219=) c.612C>T (p.Leu204=) c.444C>T (p.Leu148=) c.318C>T (p.Leu106=) n.1910C>T | COSMIC COSMIC COSMIC |
12 | g.32611154_32611155delinsCT | CA2026267778 | FGD4 | c.1209_1210delinsCT (p.Leu403=) c.1464_1465delinsCT (p.Leu488=) c.930_931delinsCT (p.Leu310=) c.21_22delinsCT (p.Leu7=) n.716_717delinsCT c.1620_1621delinsCT (p.Leu540=) c.*601_*602delinsCT (n.*601_*602delinsCT) c.*620_*621delinsCT (n.*620_*621delinsCT) c.798_799delinsCT c.1545_1546delinsCT (p.Leu515=) c.*578_*579delinsCT (n.*578_*579delinsCT) c.465_466delinsCT (p.Leu155=) c.177_178delinsCT (p.Leu59=) c.1701_1702delinsCT (p.Leu567=) c.1503_1504delinsCT (p.Leu501=) c.657_658delinsCT (p.Leu219=) c.612_613delinsCT (p.Leu204=) c.444_445delinsCT (p.Leu148=) c.318_319delinsCT (p.Leu106=) n.1910_1911delinsCT | |
12 | g.32611155T>A | CA6506849 | FGD4 | c.1210T>A (p.Leu404Ile) c.1465T>A (p.Leu489Ile) c.931T>A (p.Leu311Ile) c.22T>A (p.Leu8Ile) n.717T>A c.1621T>A (p.Leu541Ile) c.*602T>A (n.*602T>A) c.*621T>A (n.*621T>A) c.799T>A c.1546T>A (p.Leu516Ile) c.*579T>A (n.*579T>A) c.466T>A (p.Leu156Ile) c.178T>A (p.Leu60Ile) c.1702T>A (p.Leu568Ile) c.1504T>A (p.Leu502Ile) c.658T>A (p.Leu220Ile) c.613T>A (p.Leu205Ile) c.445T>A (p.Leu149Ile) c.319T>A (p.Leu107Ile) n.1911T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611155T>C | CA479167777 | FGD4 | c.1210T>C (p.Leu404=) c.1465T>C (p.Leu489=) c.931T>C (p.Leu311=) c.22T>C (p.Leu8=) n.717T>C c.1621T>C (p.Leu541=) c.*602T>C (n.*602T>C) c.*621T>C (n.*621T>C) c.799T>C c.1546T>C (p.Leu516=) c.*579T>C (n.*579T>C) c.466T>C (p.Leu156=) c.178T>C (p.Leu60=) c.1702T>C (p.Leu568=) c.1504T>C (p.Leu502=) c.658T>C (p.Leu220=) c.613T>C (p.Leu205=) c.445T>C (p.Leu149=) c.319T>C (p.Leu107=) n.1911T>C | COSMIC |
12 | g.32611155T>G | CA384360973 | FGD4 | c.1210T>G (p.Leu404Val) c.1465T>G (p.Leu489Val) c.931T>G (p.Leu311Val) c.22T>G (p.Leu8Val) n.717T>G c.1621T>G (p.Leu541Val) c.*602T>G (n.*602T>G) c.*621T>G (n.*621T>G) c.799T>G c.1546T>G (p.Leu516Val) c.*579T>G (n.*579T>G) c.466T>G (p.Leu156Val) c.178T>G (p.Leu60Val) c.1702T>G (p.Leu568Val) c.1504T>G (p.Leu502Val) c.658T>G (p.Leu220Val) c.613T>G (p.Leu205Val) c.445T>G (p.Leu149Val) c.319T>G (p.Leu107Val) n.1911T>G | gnomAD v4 |
12 | g.32611155T= | CA2026267779 | FGD4 | c.1210T= (p.Leu404=) c.1465T= (p.Leu489=) c.931T= (p.Leu311=) c.22T= (p.Leu8=) n.717T= c.1621T= (p.Leu541=) c.*602T= (n.*602T=) c.*621T= (n.*621T=) c.799T= c.1546T= (p.Leu516=) c.*579T= (n.*579T=) c.466T= (p.Leu156=) c.178T= (p.Leu60=) c.1702T= (p.Leu568=) c.1504T= (p.Leu502=) c.658T= (p.Leu220=) c.613T= (p.Leu205=) c.445T= (p.Leu149=) c.319T= (p.Leu107=) n.1911T= | |
12 | g.32611156del | CA6506848 | FGD4 | c.1211del (p.Leu404Ter) c.1466del (p.Leu489Ter) c.932del (p.Leu311Ter) c.23del (p.Leu8Ter) n.718del c.1622del (p.Leu541Ter) c.*603del (n.*603del) c.*622del (n.*622del) c.800del c.1547del (p.Leu516Ter) c.*580del (n.*580del) c.467del (p.Leu156Ter) c.179del (p.Leu60Ter) c.1703del (p.Leu568Ter) c.1505del (p.Leu502Ter) c.659del (p.Leu220Ter) c.614del (p.Leu205Ter) c.446del (p.Leu149Ter) c.320del (p.Leu107Ter) n.1912del | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611156T>A | CA384360974 | FGD4 | c.1211T>A (p.Leu404Ter) c.1466T>A (p.Leu489Ter) c.932T>A (p.Leu311Ter) c.23T>A (p.Leu8Ter) n.718T>A c.1622T>A (p.Leu541Ter) c.*603T>A (n.*603T>A) c.*622T>A (n.*622T>A) c.800T>A c.1547T>A (p.Leu516Ter) c.*580T>A (n.*580T>A) c.467T>A (p.Leu156Ter) c.179T>A (p.Leu60Ter) c.1703T>A (p.Leu568Ter) c.1505T>A (p.Leu502Ter) c.659T>A (p.Leu220Ter) c.614T>A (p.Leu205Ter) c.446T>A (p.Leu149Ter) c.320T>A (p.Leu107Ter) n.1912T>A | |
12 | g.32611156T>C | CA384360975 | FGD4 | c.1211T>C (p.Leu404Ser) c.1466T>C (p.Leu489Ser) c.932T>C (p.Leu311Ser) c.23T>C (p.Leu8Ser) n.718T>C c.1622T>C (p.Leu541Ser) c.*603T>C (n.*603T>C) c.*622T>C (n.*622T>C) c.800T>C c.1547T>C (p.Leu516Ser) c.*580T>C (n.*580T>C) c.467T>C (p.Leu156Ser) c.179T>C (p.Leu60Ser) c.1703T>C (p.Leu568Ser) c.1505T>C (p.Leu502Ser) c.659T>C (p.Leu220Ser) c.614T>C (p.Leu205Ser) c.446T>C (p.Leu149Ser) c.320T>C (p.Leu107Ser) n.1912T>C | |
12 | g.32611156T>G | CA384360976 | FGD4 | c.1211T>G (p.Leu404Ter) c.1466T>G (p.Leu489Ter) c.932T>G (p.Leu311Ter) c.23T>G (p.Leu8Ter) n.718T>G c.1622T>G (p.Leu541Ter) c.*603T>G (n.*603T>G) c.*622T>G (n.*622T>G) c.800T>G c.1547T>G (p.Leu516Ter) c.*580T>G (n.*580T>G) c.467T>G (p.Leu156Ter) c.179T>G (p.Leu60Ter) c.1703T>G (p.Leu568Ter) c.1505T>G (p.Leu502Ter) c.659T>G (p.Leu220Ter) c.614T>G (p.Leu205Ter) c.446T>G (p.Leu149Ter) c.320T>G (p.Leu107Ter) n.1912T>G | |
12 | g.32611157A>C | CA384360977 | FGD4 | c.1212A>C (p.Leu404Phe) c.1467A>C (p.Leu489Phe) c.933A>C (p.Leu311Phe) c.24A>C (p.Leu8Phe) n.719A>C c.1623A>C (p.Leu541Phe) c.*604A>C (n.*604A>C) c.*623A>C (n.*623A>C) c.801A>C c.1548A>C (p.Leu516Phe) c.*581A>C (n.*581A>C) c.468A>C (p.Leu156Phe) c.180A>C (p.Leu60Phe) c.1704A>C (p.Leu568Phe) c.1506A>C (p.Leu502Phe) c.660A>C (p.Leu220Phe) c.615A>C (p.Leu205Phe) c.447A>C (p.Leu149Phe) c.321A>C (p.Leu107Phe) n.1913A>C | |
12 | g.32611157A>G | CA479167779 | FGD4 | c.1212A>G (p.Leu404=) c.1467A>G (p.Leu489=) c.933A>G (p.Leu311=) c.24A>G (p.Leu8=) n.719A>G c.1623A>G (p.Leu541=) c.*604A>G (n.*604A>G) c.*623A>G (n.*623A>G) c.801A>G c.1548A>G (p.Leu516=) c.*581A>G (n.*581A>G) c.468A>G (p.Leu156=) c.180A>G (p.Leu60=) c.1704A>G (p.Leu568=) c.1506A>G (p.Leu502=) c.660A>G (p.Leu220=) c.615A>G (p.Leu205=) c.447A>G (p.Leu149=) c.321A>G (p.Leu107=) n.1913A>G | |
12 | g.32611157A>T | CA384360978 | FGD4 | c.1212A>T (p.Leu404Phe) c.1467A>T (p.Leu489Phe) c.933A>T (p.Leu311Phe) c.24A>T (p.Leu8Phe) n.719A>T c.1623A>T (p.Leu541Phe) c.*604A>T (n.*604A>T) c.*623A>T (n.*623A>T) c.801A>T c.1548A>T (p.Leu516Phe) c.*581A>T (n.*581A>T) c.468A>T (p.Leu156Phe) c.180A>T (p.Leu60Phe) c.1704A>T (p.Leu568Phe) c.1506A>T (p.Leu502Phe) c.660A>T (p.Leu220Phe) c.615A>T (p.Leu205Phe) c.447A>T (p.Leu149Phe) c.321A>T (p.Leu107Phe) n.1913A>T | |
12 | g.32611158G>A | CA384360980 | FGD4 | c.1213G>A (p.Glu405Lys) c.1468G>A (p.Glu490Lys) c.934G>A (p.Glu312Lys) c.25G>A (p.Glu9Lys) n.720G>A c.1624G>A (p.Glu542Lys) c.*605G>A (n.*605G>A) c.*624G>A (n.*624G>A) c.802G>A c.1549G>A (p.Glu517Lys) c.*582G>A (n.*582G>A) c.469G>A (p.Glu157Lys) c.181G>A (p.Glu61Lys) c.1705G>A (p.Glu569Lys) c.1507G>A (p.Glu503Lys) c.661G>A (p.Glu221Lys) c.616G>A (p.Glu206Lys) c.448G>A (p.Glu150Lys) c.322G>A (p.Glu108Lys) n.1914G>A | gnomAD v4 |
12 | g.32611158G>C | CA384360981 | FGD4 | c.1213G>C (p.Glu405Gln) c.1468G>C (p.Glu490Gln) c.934G>C (p.Glu312Gln) c.25G>C (p.Glu9Gln) n.720G>C c.1624G>C (p.Glu542Gln) c.*605G>C (n.*605G>C) c.*624G>C (n.*624G>C) c.802G>C c.1549G>C (p.Glu517Gln) c.*582G>C (n.*582G>C) c.469G>C (p.Glu157Gln) c.181G>C (p.Glu61Gln) c.1705G>C (p.Glu569Gln) c.1507G>C (p.Glu503Gln) c.661G>C (p.Glu221Gln) c.616G>C (p.Glu206Gln) c.448G>C (p.Glu150Gln) c.322G>C (p.Glu108Gln) n.1914G>C | |
12 | g.32611158G>T | CA384360979 | FGD4 | c.1213G>T (p.Glu405Ter) c.1468G>T (p.Glu490Ter) c.934G>T (p.Glu312Ter) c.25G>T (p.Glu9Ter) n.720G>T c.1624G>T (p.Glu542Ter) c.*605G>T (n.*605G>T) c.*624G>T (n.*624G>T) c.802G>T c.1549G>T (p.Glu517Ter) c.*582G>T (n.*582G>T) c.469G>T (p.Glu157Ter) c.181G>T (p.Glu61Ter) c.1705G>T (p.Glu569Ter) c.1507G>T (p.Glu503Ter) c.661G>T (p.Glu221Ter) c.616G>T (p.Glu206Ter) c.448G>T (p.Glu150Ter) c.322G>T (p.Glu108Ter) n.1914G>T | |
12 | g.32611159A>C | CA384360982 | FGD4 | c.1214A>C (p.Glu405Ala) c.1469A>C (p.Glu490Ala) c.935A>C (p.Glu312Ala) c.26A>C (p.Glu9Ala) n.721A>C c.1625A>C (p.Glu542Ala) c.*606A>C (n.*606A>C) c.*625A>C (n.*625A>C) c.803A>C c.1550A>C (p.Glu517Ala) c.*583A>C (n.*583A>C) c.470A>C (p.Glu157Ala) c.182A>C (p.Glu61Ala) c.1706A>C (p.Glu569Ala) c.1508A>C (p.Glu503Ala) c.662A>C (p.Glu221Ala) c.617A>C (p.Glu206Ala) c.449A>C (p.Glu150Ala) c.323A>C (p.Glu108Ala) n.1915A>C | |
12 | g.32611159A>G | CA384360983 | FGD4 | c.1214A>G (p.Glu405Gly) c.1469A>G (p.Glu490Gly) c.935A>G (p.Glu312Gly) c.26A>G (p.Glu9Gly) n.721A>G c.1625A>G (p.Glu542Gly) c.*606A>G (n.*606A>G) c.*625A>G (n.*625A>G) c.803A>G c.1550A>G (p.Glu517Gly) c.*583A>G (n.*583A>G) c.470A>G (p.Glu157Gly) c.182A>G (p.Glu61Gly) c.1706A>G (p.Glu569Gly) c.1508A>G (p.Glu503Gly) c.662A>G (p.Glu221Gly) c.617A>G (p.Glu206Gly) c.449A>G (p.Glu150Gly) c.323A>G (p.Glu108Gly) n.1915A>G | |
12 | g.32611159A>T | CA384360984 | FGD4 | c.1214A>T (p.Glu405Val) c.1469A>T (p.Glu490Val) c.935A>T (p.Glu312Val) c.26A>T (p.Glu9Val) n.721A>T c.1625A>T (p.Glu542Val) c.*606A>T (n.*606A>T) c.*625A>T (n.*625A>T) c.803A>T c.1550A>T (p.Glu517Val) c.*583A>T (n.*583A>T) c.470A>T (p.Glu157Val) c.182A>T (p.Glu61Val) c.1706A>T (p.Glu569Val) c.1508A>T (p.Glu503Val) c.662A>T (p.Glu221Val) c.617A>T (p.Glu206Val) c.449A>T (p.Glu150Val) c.323A>T (p.Glu108Val) n.1915A>T | |
12 | g.32611160G>A | CA479167783 | FGD4 | c.1215G>A (p.Glu405=) c.1470G>A (p.Glu490=) c.936G>A (p.Glu312=) c.27G>A (p.Glu9=) n.722G>A c.1626G>A (p.Glu542=) c.*607G>A (n.*607G>A) c.*626G>A (n.*626G>A) c.804G>A c.1551G>A (p.Glu517=) c.*584G>A (n.*584G>A) c.471G>A (p.Glu157=) c.183G>A (p.Glu61=) c.1707G>A (p.Glu569=) c.1509G>A (p.Glu503=) c.663G>A (p.Glu221=) c.618G>A (p.Glu206=) c.450G>A (p.Glu150=) c.324G>A (p.Glu108=) n.1916G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.32611160G>C | CA384360985 | FGD4 | c.1215G>C (p.Glu405Asp) c.1470G>C (p.Glu490Asp) c.936G>C (p.Glu312Asp) c.27G>C (p.Glu9Asp) n.722G>C c.1626G>C (p.Glu542Asp) c.*607G>C (n.*607G>C) c.*626G>C (n.*626G>C) c.804G>C c.1551G>C (p.Glu517Asp) c.*584G>C (n.*584G>C) c.471G>C (p.Glu157Asp) c.183G>C (p.Glu61Asp) c.1707G>C (p.Glu569Asp) c.1509G>C (p.Glu503Asp) c.663G>C (p.Glu221Asp) c.618G>C (p.Glu206Asp) c.450G>C (p.Glu150Asp) c.324G>C (p.Glu108Asp) n.1916G>C | gnomAD v4 |
12 | g.32611160G= | CA2026267780 | FGD4 | c.1215G= (p.Glu405=) c.1470G= (p.Glu490=) c.936G= (p.Glu312=) c.27G= (p.Glu9=) n.722G= c.1626G= (p.Glu542=) c.*607G= (n.*607G=) c.*626G= (n.*626G=) c.804G= c.1551G= (p.Glu517=) c.*584G= (n.*584G=) c.471G= (p.Glu157=) c.183G= (p.Glu61=) c.1707G= (p.Glu569=) c.1509G= (p.Glu503=) c.663G= (p.Glu221=) c.618G= (p.Glu206=) c.450G= (p.Glu150=) c.324G= (p.Glu108=) n.1916G= | |
12 | g.32611160G>T | CA384360986 | FGD4 | c.1215G>T (p.Glu405Asp) c.1470G>T (p.Glu490Asp) c.936G>T (p.Glu312Asp) c.27G>T (p.Glu9Asp) n.722G>T c.1626G>T (p.Glu542Asp) c.*607G>T (n.*607G>T) c.*626G>T (n.*626G>T) c.804G>T c.1551G>T (p.Glu517Asp) c.*584G>T (n.*584G>T) c.471G>T (p.Glu157Asp) c.183G>T (p.Glu61Asp) c.1707G>T (p.Glu569Asp) c.1509G>T (p.Glu503Asp) c.663G>T (p.Glu221Asp) c.618G>T (p.Glu206Asp) c.450G>T (p.Glu150Asp) c.324G>T (p.Glu108Asp) n.1916G>T | |
12 | g.32611161A>C | CA384360987 | FGD4 | c.1216A>C (p.Ile406Leu) c.1471A>C (p.Ile491Leu) c.937A>C (p.Ile313Leu) c.28A>C (p.Ile10Leu) n.723A>C c.1627A>C (p.Ile543Leu) c.*608A>C (n.*608A>C) c.*627A>C (n.*627A>C) c.805A>C c.1552A>C (p.Ile518Leu) c.*585A>C (n.*585A>C) c.472A>C (p.Ile158Leu) c.184A>C (p.Ile62Leu) c.1708A>C (p.Ile570Leu) c.1510A>C (p.Ile504Leu) c.664A>C (p.Ile222Leu) c.619A>C (p.Ile207Leu) c.451A>C (p.Ile151Leu) c.325A>C (p.Ile109Leu) n.1917A>C | |
12 | g.32611161A>G | CA384360988 | FGD4 | c.1216A>G (p.Ile406Val) c.1471A>G (p.Ile491Val) c.937A>G (p.Ile313Val) c.28A>G (p.Ile10Val) n.723A>G c.1627A>G (p.Ile543Val) c.*608A>G (n.*608A>G) c.*627A>G (n.*627A>G) c.805A>G c.1552A>G (p.Ile518Val) c.*585A>G (n.*585A>G) c.472A>G (p.Ile158Val) c.184A>G (p.Ile62Val) c.1708A>G (p.Ile570Val) c.1510A>G (p.Ile504Val) c.664A>G (p.Ile222Val) c.619A>G (p.Ile207Val) c.451A>G (p.Ile151Val) c.325A>G (p.Ile109Val) n.1917A>G | gnomAD v4 |
12 | g.32611161A>T | CA384360989 | FGD4 | c.1216A>T (p.Ile406Phe) c.1471A>T (p.Ile491Phe) c.937A>T (p.Ile313Phe) c.28A>T (p.Ile10Phe) n.723A>T c.1627A>T (p.Ile543Phe) c.*608A>T (n.*608A>T) c.*627A>T (n.*627A>T) c.805A>T c.1552A>T (p.Ile518Phe) c.*585A>T (n.*585A>T) c.472A>T (p.Ile158Phe) c.184A>T (p.Ile62Phe) c.1708A>T (p.Ile570Phe) c.1510A>T (p.Ile504Phe) c.664A>T (p.Ile222Phe) c.619A>T (p.Ile207Phe) c.451A>T (p.Ile151Phe) c.325A>T (p.Ile109Phe) n.1917A>T | dbSNP |
12 | g.32611162T>A | CA384360990 | FGD4 | c.1217T>A (p.Ile406Asn) c.1472T>A (p.Ile491Asn) c.938T>A (p.Ile313Asn) c.29T>A (p.Ile10Asn) n.724T>A c.1628T>A (p.Ile543Asn) c.*609T>A (n.*609T>A) c.*628T>A (n.*628T>A) c.806T>A c.1553T>A (p.Ile518Asn) c.*586T>A (n.*586T>A) c.473T>A (p.Ile158Asn) c.185T>A (p.Ile62Asn) c.1709T>A (p.Ile570Asn) c.1511T>A (p.Ile504Asn) c.665T>A (p.Ile222Asn) c.620T>A (p.Ile207Asn) c.452T>A (p.Ile151Asn) c.326T>A (p.Ile109Asn) n.1918T>A | |
12 | g.32611162T>C | CA384360991 | FGD4 | c.1217T>C (p.Ile406Thr) c.1472T>C (p.Ile491Thr) c.938T>C (p.Ile313Thr) c.29T>C (p.Ile10Thr) n.724T>C c.1628T>C (p.Ile543Thr) c.*609T>C (n.*609T>C) c.*628T>C (n.*628T>C) c.806T>C c.1553T>C (p.Ile518Thr) c.*586T>C (n.*586T>C) c.473T>C (p.Ile158Thr) c.185T>C (p.Ile62Thr) c.1709T>C (p.Ile570Thr) c.1511T>C (p.Ile504Thr) c.665T>C (p.Ile222Thr) c.620T>C (p.Ile207Thr) c.452T>C (p.Ile151Thr) c.326T>C (p.Ile109Thr) n.1918T>C | |
12 | g.32611162T>G | CA384360992 | FGD4 | c.1217T>G (p.Ile406Ser) c.1472T>G (p.Ile491Ser) c.938T>G (p.Ile313Ser) c.29T>G (p.Ile10Ser) n.724T>G c.1628T>G (p.Ile543Ser) c.*609T>G (n.*609T>G) c.*628T>G (n.*628T>G) c.806T>G c.1553T>G (p.Ile518Ser) c.*586T>G (n.*586T>G) c.473T>G (p.Ile158Ser) c.185T>G (p.Ile62Ser) c.1709T>G (p.Ile570Ser) c.1511T>G (p.Ile504Ser) c.665T>G (p.Ile222Ser) c.620T>G (p.Ile207Ser) c.452T>G (p.Ile151Ser) c.326T>G (p.Ile109Ser) n.1918T>G | |
12 | g.32611163T>A | CA479167786 | FGD4 | c.1218T>A (p.Ile406=) c.1473T>A (p.Ile491=) c.939T>A (p.Ile313=) c.30T>A (p.Ile10=) n.725T>A c.1629T>A (p.Ile543=) c.*610T>A (n.*610T>A) c.*629T>A (n.*629T>A) c.807T>A c.1554T>A (p.Ile518=) c.*587T>A (n.*587T>A) c.474T>A (p.Ile158=) c.186T>A (p.Ile62=) c.1710T>A (p.Ile570=) c.1512T>A (p.Ile504=) c.666T>A (p.Ile222=) c.621T>A (p.Ile207=) c.453T>A (p.Ile151=) c.327T>A (p.Ile109=) n.1919T>A | |
12 | g.32611163T>C | CA479167787 | FGD4 | c.1218T>C (p.Ile406=) c.1473T>C (p.Ile491=) c.939T>C (p.Ile313=) c.30T>C (p.Ile10=) n.725T>C c.1629T>C (p.Ile543=) c.*610T>C (n.*610T>C) c.*629T>C (n.*629T>C) c.807T>C c.1554T>C (p.Ile518=) c.*587T>C (n.*587T>C) c.474T>C (p.Ile158=) c.186T>C (p.Ile62=) c.1710T>C (p.Ile570=) c.1512T>C (p.Ile504=) c.666T>C (p.Ile222=) c.621T>C (p.Ile207=) c.453T>C (p.Ile151=) c.327T>C (p.Ile109=) n.1919T>C | |
12 | g.32611163T>G | CA384360993 | FGD4 | c.1218T>G (p.Ile406Met) c.1473T>G (p.Ile491Met) c.939T>G (p.Ile313Met) c.30T>G (p.Ile10Met) n.725T>G c.1629T>G (p.Ile543Met) c.*610T>G (n.*610T>G) c.*629T>G (n.*629T>G) c.807T>G c.1554T>G (p.Ile518Met) c.*587T>G (n.*587T>G) c.474T>G (p.Ile158Met) c.186T>G (p.Ile62Met) c.1710T>G (p.Ile570Met) c.1512T>G (p.Ile504Met) c.666T>G (p.Ile222Met) c.621T>G (p.Ile207Met) c.453T>G (p.Ile151Met) c.327T>G (p.Ile109Met) n.1919T>G | |
12 | g.32611164T>A | CA384360996 | FGD4 | c.1219T>A (p.Tyr407Asn) c.1474T>A (p.Tyr492Asn) c.940T>A (p.Tyr314Asn) c.31T>A (p.Tyr11Asn) n.726T>A c.1630T>A (p.Tyr544Asn) c.*611T>A (n.*611T>A) c.*630T>A (n.*630T>A) c.808T>A c.1555T>A (p.Tyr519Asn) c.*588T>A (n.*588T>A) c.475T>A (p.Tyr159Asn) c.187T>A (p.Tyr63Asn) c.1711T>A (p.Tyr571Asn) c.1513T>A (p.Tyr505Asn) c.667T>A (p.Tyr223Asn) c.622T>A (p.Tyr208Asn) c.454T>A (p.Tyr152Asn) c.328T>A (p.Tyr110Asn) n.1920T>A | COSMIC |
12 | g.32611164T>C | CA384360994 | FGD4 | c.1219T>C (p.Tyr407His) c.1474T>C (p.Tyr492His) c.940T>C (p.Tyr314His) c.31T>C (p.Tyr11His) n.726T>C c.1630T>C (p.Tyr544His) c.*611T>C (n.*611T>C) c.*630T>C (n.*630T>C) c.808T>C c.1555T>C (p.Tyr519His) c.*588T>C (n.*588T>C) c.475T>C (p.Tyr159His) c.187T>C (p.Tyr63His) c.1711T>C (p.Tyr571His) c.1513T>C (p.Tyr505His) c.667T>C (p.Tyr223His) c.622T>C (p.Tyr208His) c.454T>C (p.Tyr152His) c.328T>C (p.Tyr110His) n.1920T>C | |
12 | g.32611164T>G | CA384360995 | FGD4 | c.1219T>G (p.Tyr407Asp) c.1474T>G (p.Tyr492Asp) c.940T>G (p.Tyr314Asp) c.31T>G (p.Tyr11Asp) n.726T>G c.1630T>G (p.Tyr544Asp) c.*611T>G (n.*611T>G) c.*630T>G (n.*630T>G) c.808T>G c.1555T>G (p.Tyr519Asp) c.*588T>G (n.*588T>G) c.475T>G (p.Tyr159Asp) c.187T>G (p.Tyr63Asp) c.1711T>G (p.Tyr571Asp) c.1513T>G (p.Tyr505Asp) c.667T>G (p.Tyr223Asp) c.622T>G (p.Tyr208Asp) c.454T>G (p.Tyr152Asp) c.328T>G (p.Tyr110Asp) n.1920T>G | |
12 | g.32611165A>C | CA384360997 | FGD4 | c.1220A>C (p.Tyr407Ser) c.1475A>C (p.Tyr492Ser) c.941A>C (p.Tyr314Ser) c.32A>C (p.Tyr11Ser) n.727A>C c.1631A>C (p.Tyr544Ser) c.*612A>C (n.*612A>C) c.*631A>C (n.*631A>C) c.809A>C c.1556A>C (p.Tyr519Ser) c.*589A>C (n.*589A>C) c.476A>C (p.Tyr159Ser) c.188A>C (p.Tyr63Ser) c.1712A>C (p.Tyr571Ser) c.1514A>C (p.Tyr505Ser) c.668A>C (p.Tyr223Ser) c.623A>C (p.Tyr208Ser) c.455A>C (p.Tyr152Ser) c.329A>C (p.Tyr110Ser) n.1921A>C | |
12 | g.32611165A>G | CA384360998 | FGD4 | c.1220A>G (p.Tyr407Cys) c.1475A>G (p.Tyr492Cys) c.941A>G (p.Tyr314Cys) c.32A>G (p.Tyr11Cys) n.727A>G c.1631A>G (p.Tyr544Cys) c.*612A>G (n.*612A>G) c.*631A>G (n.*631A>G) c.809A>G c.1556A>G (p.Tyr519Cys) c.*589A>G (n.*589A>G) c.476A>G (p.Tyr159Cys) c.188A>G (p.Tyr63Cys) c.1712A>G (p.Tyr571Cys) c.1514A>G (p.Tyr505Cys) c.668A>G (p.Tyr223Cys) c.623A>G (p.Tyr208Cys) c.455A>G (p.Tyr152Cys) c.329A>G (p.Tyr110Cys) n.1921A>G | |
12 | g.32611165A>T | CA384360999 | FGD4 | c.1220A>T (p.Tyr407Phe) c.1475A>T (p.Tyr492Phe) c.941A>T (p.Tyr314Phe) c.32A>T (p.Tyr11Phe) n.727A>T c.1631A>T (p.Tyr544Phe) c.*612A>T (n.*612A>T) c.*631A>T (n.*631A>T) c.809A>T c.1556A>T (p.Tyr519Phe) c.*589A>T (n.*589A>T) c.476A>T (p.Tyr159Phe) c.188A>T (p.Tyr63Phe) c.1712A>T (p.Tyr571Phe) c.1514A>T (p.Tyr505Phe) c.668A>T (p.Tyr223Phe) c.623A>T (p.Tyr208Phe) c.455A>T (p.Tyr152Phe) c.329A>T (p.Tyr110Phe) n.1921A>T | |
12 | g.32611166T>A | CA384361000 | FGD4 | c.1221T>A (p.Tyr407Ter) c.1476T>A (p.Tyr492Ter) c.942T>A (p.Tyr314Ter) c.33T>A (p.Tyr11Ter) n.728T>A c.1632T>A (p.Tyr544Ter) c.*613T>A (n.*613T>A) c.*632T>A (n.*632T>A) c.810T>A c.1557T>A (p.Tyr519Ter) c.*590T>A (n.*590T>A) c.477T>A (p.Tyr159Ter) c.189T>A (p.Tyr63Ter) c.1713T>A (p.Tyr571Ter) c.1515T>A (p.Tyr505Ter) c.669T>A (p.Tyr223Ter) c.624T>A (p.Tyr208Ter) c.456T>A (p.Tyr152Ter) c.330T>A (p.Tyr110Ter) n.1922T>A | |
12 | g.32611166T>C | CA479167792 | FGD4 | c.1221T>C (p.Tyr407=) c.1476T>C (p.Tyr492=) c.942T>C (p.Tyr314=) c.33T>C (p.Tyr11=) n.728T>C c.1632T>C (p.Tyr544=) c.*613T>C (n.*613T>C) c.*632T>C (n.*632T>C) c.810T>C c.1557T>C (p.Tyr519=) c.*590T>C (n.*590T>C) c.477T>C (p.Tyr159=) c.189T>C (p.Tyr63=) c.1713T>C (p.Tyr571=) c.1515T>C (p.Tyr505=) c.669T>C (p.Tyr223=) c.624T>C (p.Tyr208=) c.456T>C (p.Tyr152=) c.330T>C (p.Tyr110=) n.1922T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.32611166T>G | CA384361001 | FGD4 | c.1221T>G (p.Tyr407Ter) c.1476T>G (p.Tyr492Ter) c.942T>G (p.Tyr314Ter) c.33T>G (p.Tyr11Ter) n.728T>G c.1632T>G (p.Tyr544Ter) c.*613T>G (n.*613T>G) c.*632T>G (n.*632T>G) c.810T>G c.1557T>G (p.Tyr519Ter) c.*590T>G (n.*590T>G) c.477T>G (p.Tyr159Ter) c.189T>G (p.Tyr63Ter) c.1713T>G (p.Tyr571Ter) c.1515T>G (p.Tyr505Ter) c.669T>G (p.Tyr223Ter) c.624T>G (p.Tyr208Ter) c.456T>G (p.Tyr152Ter) c.330T>G (p.Tyr110Ter) n.1922T>G | |
12 | g.32611166T= | CA2026267781 | FGD4 | c.1221T= (p.Tyr407=) c.1476T= (p.Tyr492=) c.942T= (p.Tyr314=) c.33T= (p.Tyr11=) n.728T= c.1632T= (p.Tyr544=) c.*613T= (n.*613T=) c.*632T= (n.*632T=) c.810T= c.1557T= (p.Tyr519=) c.*590T= (n.*590T=) c.477T= (p.Tyr159=) c.189T= (p.Tyr63=) c.1713T= (p.Tyr571=) c.1515T= (p.Tyr505=) c.669T= (p.Tyr223=) c.624T= (p.Tyr208=) c.456T= (p.Tyr152=) c.330T= (p.Tyr110=) n.1922T= | |
12 | g.32611167G>A | CA384361002 | FGD4 | c.1222G>A (p.Glu408Lys) c.1477G>A (p.Glu493Lys) c.943G>A (p.Glu315Lys) c.34G>A (p.Glu12Lys) n.729G>A c.1633G>A (p.Glu545Lys) c.*614G>A (n.*614G>A) c.*633G>A (n.*633G>A) c.811G>A c.1558G>A (p.Glu520Lys) c.*591G>A (n.*591G>A) c.478G>A (p.Glu160Lys) c.190G>A (p.Glu64Lys) c.1714G>A (p.Glu572Lys) c.1516G>A (p.Glu506Lys) c.670G>A (p.Glu224Lys) c.625G>A (p.Glu209Lys) c.457G>A (p.Glu153Lys) c.331G>A (p.Glu111Lys) n.1923G>A | COSMIC COSMIC COSMIC |
12 | g.32611167G>C | CA384361003 | FGD4 | c.1222G>C (p.Glu408Gln) c.1477G>C (p.Glu493Gln) c.943G>C (p.Glu315Gln) c.34G>C (p.Glu12Gln) n.729G>C c.1633G>C (p.Glu545Gln) c.*614G>C (n.*614G>C) c.*633G>C (n.*633G>C) c.811G>C c.1558G>C (p.Glu520Gln) c.*591G>C (n.*591G>C) c.478G>C (p.Glu160Gln) c.190G>C (p.Glu64Gln) c.1714G>C (p.Glu572Gln) c.1516G>C (p.Glu506Gln) c.670G>C (p.Glu224Gln) c.625G>C (p.Glu209Gln) c.457G>C (p.Glu153Gln) c.331G>C (p.Glu111Gln) n.1923G>C | |
12 | g.32611167G>T | CA384361004 | FGD4 | c.1222G>T (p.Glu408Ter) c.1477G>T (p.Glu493Ter) c.943G>T (p.Glu315Ter) c.34G>T (p.Glu12Ter) n.729G>T c.1633G>T (p.Glu545Ter) c.*614G>T (n.*614G>T) c.*633G>T (n.*633G>T) c.811G>T c.1558G>T (p.Glu520Ter) c.*591G>T (n.*591G>T) c.478G>T (p.Glu160Ter) c.190G>T (p.Glu64Ter) c.1714G>T (p.Glu572Ter) c.1516G>T (p.Glu506Ter) c.670G>T (p.Glu224Ter) c.625G>T (p.Glu209Ter) c.457G>T (p.Glu153Ter) c.331G>T (p.Glu111Ter) n.1923G>T | |
12 | g.32611168A>C | CA384361005 | FGD4 | c.1223A>C (p.Glu408Ala) c.1478A>C (p.Glu493Ala) c.944A>C (p.Glu315Ala) c.35A>C (p.Glu12Ala) n.730A>C c.1634A>C (p.Glu545Ala) c.*615A>C (n.*615A>C) c.*634A>C (n.*634A>C) c.812A>C c.1559A>C (p.Glu520Ala) c.*592A>C (n.*592A>C) c.479A>C (p.Glu160Ala) c.191A>C (p.Glu64Ala) c.1715A>C (p.Glu572Ala) c.1517A>C (p.Glu506Ala) c.671A>C (p.Glu224Ala) c.626A>C (p.Glu209Ala) c.458A>C (p.Glu153Ala) c.332A>C (p.Glu111Ala) n.1924A>C | |
12 | g.32611168A>G | CA384361006 | FGD4 | c.1223A>G (p.Glu408Gly) c.1478A>G (p.Glu493Gly) c.944A>G (p.Glu315Gly) c.35A>G (p.Glu12Gly) n.730A>G c.1634A>G (p.Glu545Gly) c.*615A>G (n.*615A>G) c.*634A>G (n.*634A>G) c.812A>G c.1559A>G (p.Glu520Gly) c.*592A>G (n.*592A>G) c.479A>G (p.Glu160Gly) c.191A>G (p.Glu64Gly) c.1715A>G (p.Glu572Gly) c.1517A>G (p.Glu506Gly) c.671A>G (p.Glu224Gly) c.626A>G (p.Glu209Gly) c.458A>G (p.Glu153Gly) c.332A>G (p.Glu111Gly) n.1924A>G | |
12 | g.32611168A>T | CA384361007 | FGD4 | c.1223A>T (p.Glu408Val) c.1478A>T (p.Glu493Val) c.944A>T (p.Glu315Val) c.35A>T (p.Glu12Val) n.730A>T c.1634A>T (p.Glu545Val) c.*615A>T (n.*615A>T) c.*634A>T (n.*634A>T) c.812A>T c.1559A>T (p.Glu520Val) c.*592A>T (n.*592A>T) c.479A>T (p.Glu160Val) c.191A>T (p.Glu64Val) c.1715A>T (p.Glu572Val) c.1517A>T (p.Glu506Val) c.671A>T (p.Glu224Val) c.626A>T (p.Glu209Val) c.458A>T (p.Glu153Val) c.332A>T (p.Glu111Val) n.1924A>T | |
12 | g.32611170del | CA2575117595 | FGD4 | c.1225del (p.Met409CysfsTer9) c.1480del (p.Met494CysfsTer9) c.946del (p.Met316CysfsTer9) c.37del (p.Met13CysfsTer9) n.732del c.1636del (p.Met546CysfsTer9) c.*617del (n.*617del) c.*636del (n.*636del) c.814del c.1561del (p.Met521CysfsTer9) c.*594del (n.*594del) c.481del (p.Met161CysfsTer9) c.193del (p.Met65CysfsTer9) c.1717del (p.Met573CysfsTer9) c.1519del (p.Met507CysfsTer9) c.673del (p.Met225CysfsTer9) c.628del (p.Met210CysfsTer9) c.460del (p.Met154CysfsTer9) c.334del (p.Met112CysfsTer9) n.1926del | |
12 | g.32611169A= | CA2026267782 | FGD4 | c.1224A= (p.Glu408=) c.1479A= (p.Glu493=) c.945A= (p.Glu315=) c.36A= (p.Glu12=) n.731A= c.1635A= (p.Glu545=) c.*616A= (n.*616A=) c.*635A= (n.*635A=) c.813A= c.1560A= (p.Glu520=) c.*593A= (n.*593A=) c.480A= (p.Glu160=) c.192A= (p.Glu64=) c.1716A= (p.Glu572=) c.1518A= (p.Glu506=) c.672A= (p.Glu224=) c.627A= (p.Glu209=) c.459A= (p.Glu153=) c.333A= (p.Glu111=) n.1925A= | |
12 | g.32611169A>C | CA384361008 | FGD4 | c.1224A>C (p.Glu408Asp) c.1479A>C (p.Glu493Asp) c.945A>C (p.Glu315Asp) c.36A>C (p.Glu12Asp) n.731A>C c.1635A>C (p.Glu545Asp) c.*616A>C (n.*616A>C) c.*635A>C (n.*635A>C) c.813A>C c.1560A>C (p.Glu520Asp) c.*593A>C (n.*593A>C) c.480A>C (p.Glu160Asp) c.192A>C (p.Glu64Asp) c.1716A>C (p.Glu572Asp) c.1518A>C (p.Glu506Asp) c.672A>C (p.Glu224Asp) c.627A>C (p.Glu209Asp) c.459A>C (p.Glu153Asp) c.333A>C (p.Glu111Asp) n.1925A>C | COSMIC |
12 | g.32611169A>G | CA479167793 | FGD4 | c.1224A>G (p.Glu408=) c.1479A>G (p.Glu493=) c.945A>G (p.Glu315=) c.36A>G (p.Glu12=) n.731A>G c.1635A>G (p.Glu545=) c.*616A>G (n.*616A>G) c.*635A>G (n.*635A>G) c.813A>G c.1560A>G (p.Glu520=) c.*593A>G (n.*593A>G) c.480A>G (p.Glu160=) c.192A>G (p.Glu64=) c.1716A>G (p.Glu572=) c.1518A>G (p.Glu506=) c.672A>G (p.Glu224=) c.627A>G (p.Glu209=) c.459A>G (p.Glu153=) c.333A>G (p.Glu111=) n.1925A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.32611169A>T | CA384361009 | FGD4 | c.1224A>T (p.Glu408Asp) c.1479A>T (p.Glu493Asp) c.945A>T (p.Glu315Asp) c.36A>T (p.Glu12Asp) n.731A>T c.1635A>T (p.Glu545Asp) c.*616A>T (n.*616A>T) c.*635A>T (n.*635A>T) c.813A>T c.1560A>T (p.Glu520Asp) c.*593A>T (n.*593A>T) c.480A>T (p.Glu160Asp) c.192A>T (p.Glu64Asp) c.1716A>T (p.Glu572Asp) c.1518A>T (p.Glu506Asp) c.672A>T (p.Glu224Asp) c.627A>T (p.Glu209Asp) c.459A>T (p.Glu153Asp) c.333A>T (p.Glu111Asp) n.1925A>T | |
12 | g.32611170A>C | CA384361011 | FGD4 | c.1225A>C (p.Met409Leu) c.1480A>C (p.Met494Leu) c.946A>C (p.Met316Leu) c.37A>C (p.Met13Leu) n.732A>C c.1636A>C (p.Met546Leu) c.*617A>C (n.*617A>C) c.*636A>C (n.*636A>C) c.814A>C c.1561A>C (p.Met521Leu) c.*594A>C (n.*594A>C) c.481A>C (p.Met161Leu) c.193A>C (p.Met65Leu) c.1717A>C (p.Met573Leu) c.1519A>C (p.Met507Leu) c.673A>C (p.Met225Leu) c.628A>C (p.Met210Leu) c.460A>C (p.Met154Leu) c.334A>C (p.Met112Leu) n.1926A>C | |
12 | g.32611170A>G | CA384361012 | FGD4 | c.1225A>G (p.Met409Val) c.1480A>G (p.Met494Val) c.946A>G (p.Met316Val) c.37A>G (p.Met13Val) n.732A>G c.1636A>G (p.Met546Val) c.*617A>G (n.*617A>G) c.*636A>G (n.*636A>G) c.814A>G c.1561A>G (p.Met521Val) c.*594A>G (n.*594A>G) c.481A>G (p.Met161Val) c.193A>G (p.Met65Val) c.1717A>G (p.Met573Val) c.1519A>G (p.Met507Val) c.673A>G (p.Met225Val) c.628A>G (p.Met210Val) c.460A>G (p.Met154Val) c.334A>G (p.Met112Val) n.1926A>G | |
12 | g.32611170A>T | CA384361010 | FGD4 | c.1225A>T (p.Met409Leu) c.1480A>T (p.Met494Leu) c.946A>T (p.Met316Leu) c.37A>T (p.Met13Leu) n.732A>T c.1636A>T (p.Met546Leu) c.*617A>T (n.*617A>T) c.*636A>T (n.*636A>T) c.814A>T c.1561A>T (p.Met521Leu) c.*594A>T (n.*594A>T) c.481A>T (p.Met161Leu) c.193A>T (p.Met65Leu) c.1717A>T (p.Met573Leu) c.1519A>T (p.Met507Leu) c.673A>T (p.Met225Leu) c.628A>T (p.Met210Leu) c.460A>T (p.Met154Leu) c.334A>T (p.Met112Leu) n.1926A>T | |
12 | g.32611171T>A | CA384361013 | FGD4 | c.1226T>A (p.Met409Lys) c.1481T>A (p.Met494Lys) c.947T>A (p.Met316Lys) c.38T>A (p.Met13Lys) n.733T>A c.1637T>A (p.Met546Lys) c.*618T>A (n.*618T>A) c.*637T>A (n.*637T>A) c.815T>A c.1562T>A (p.Met521Lys) c.*595T>A (n.*595T>A) c.482T>A (p.Met161Lys) c.194T>A (p.Met65Lys) c.1718T>A (p.Met573Lys) c.1520T>A (p.Met507Lys) c.674T>A (p.Met225Lys) c.629T>A (p.Met210Lys) c.461T>A (p.Met154Lys) c.335T>A (p.Met112Lys) n.1927T>A | gnomAD v4 |
12 | g.32611171T>C | CA384361014 | FGD4 | c.1226T>C (p.Met409Thr) c.1481T>C (p.Met494Thr) c.947T>C (p.Met316Thr) c.38T>C (p.Met13Thr) n.733T>C c.1637T>C (p.Met546Thr) c.*618T>C (n.*618T>C) c.*637T>C (n.*637T>C) c.815T>C c.1562T>C (p.Met521Thr) c.*595T>C (n.*595T>C) c.482T>C (p.Met161Thr) c.194T>C (p.Met65Thr) c.1718T>C (p.Met573Thr) c.1520T>C (p.Met507Thr) c.674T>C (p.Met225Thr) c.629T>C (p.Met210Thr) c.461T>C (p.Met154Thr) c.335T>C (p.Met112Thr) n.1927T>C | gnomAD v4 |
12 | g.32611171T>G | CA384361015 | FGD4 | c.1226T>G (p.Met409Arg) c.1481T>G (p.Met494Arg) c.947T>G (p.Met316Arg) c.38T>G (p.Met13Arg) n.733T>G c.1637T>G (p.Met546Arg) c.*618T>G (n.*618T>G) c.*637T>G (n.*637T>G) c.815T>G c.1562T>G (p.Met521Arg) c.*595T>G (n.*595T>G) c.482T>G (p.Met161Arg) c.194T>G (p.Met65Arg) c.1718T>G (p.Met573Arg) c.1520T>G (p.Met507Arg) c.674T>G (p.Met225Arg) c.629T>G (p.Met210Arg) c.461T>G (p.Met154Arg) c.335T>G (p.Met112Arg) n.1927T>G | |
12 | g.32611172G>A | CA6506850 | FGD4 | c.1227G>A (p.Met409Ile) c.1482G>A (p.Met494Ile) c.948G>A (p.Met316Ile) c.39G>A (p.Met13Ile) n.734G>A c.1638G>A (p.Met546Ile) c.*619G>A (n.*619G>A) c.*638G>A (n.*638G>A) c.816G>A c.1563G>A (p.Met521Ile) c.*596G>A (n.*596G>A) c.483G>A (p.Met161Ile) c.195G>A (p.Met65Ile) c.1719G>A (p.Met573Ile) c.1521G>A (p.Met507Ile) c.675G>A (p.Met225Ile) c.630G>A (p.Met210Ile) c.462G>A (p.Met154Ile) c.336G>A (p.Met112Ile) n.1928G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611172G>C | CA384361016 | FGD4 | c.1227G>C (p.Met409Ile) c.1482G>C (p.Met494Ile) c.948G>C (p.Met316Ile) c.39G>C (p.Met13Ile) n.734G>C c.1638G>C (p.Met546Ile) c.*619G>C (n.*619G>C) c.*638G>C (n.*638G>C) c.816G>C c.1563G>C (p.Met521Ile) c.*596G>C (n.*596G>C) c.483G>C (p.Met161Ile) c.195G>C (p.Met65Ile) c.1719G>C (p.Met573Ile) c.1521G>C (p.Met507Ile) c.675G>C (p.Met225Ile) c.630G>C (p.Met210Ile) c.462G>C (p.Met154Ile) c.336G>C (p.Met112Ile) n.1928G>C | |
12 | g.32611172G= | CA2026267783 | FGD4 | c.1227G= (p.Met409=) c.1482G= (p.Met494=) c.948G= (p.Met316=) c.39G= (p.Met13=) n.734G= c.1638G= (p.Met546=) c.*619G= (n.*619G=) c.*638G= (n.*638G=) c.816G= c.1563G= (p.Met521=) c.*596G= (n.*596G=) c.483G= (p.Met161=) c.195G= (p.Met65=) c.1719G= (p.Met573=) c.1521G= (p.Met507=) c.675G= (p.Met225=) c.630G= (p.Met210=) c.462G= (p.Met154=) c.336G= (p.Met112=) n.1928G= | |
12 | g.32611172G>T | CA384361017 | FGD4 | c.1227G>T (p.Met409Ile) c.1482G>T (p.Met494Ile) c.948G>T (p.Met316Ile) c.39G>T (p.Met13Ile) n.734G>T c.1638G>T (p.Met546Ile) c.*619G>T (n.*619G>T) c.*638G>T (n.*638G>T) c.816G>T c.1563G>T (p.Met521Ile) c.*596G>T (n.*596G>T) c.483G>T (p.Met161Ile) c.195G>T (p.Met65Ile) c.1719G>T (p.Met573Ile) c.1521G>T (p.Met507Ile) c.675G>T (p.Met225Ile) c.630G>T (p.Met210Ile) c.462G>T (p.Met154Ile) c.336G>T (p.Met112Ile) n.1928G>T | gnomAD v4 |
12 | g.32611173T>A | CA384361018 | FGD4 | c.1228T>A (p.Leu410Met) c.1483T>A (p.Leu495Met) c.949T>A (p.Leu317Met) c.40T>A (p.Leu14Met) n.735T>A c.1639T>A (p.Leu547Met) c.*620T>A (n.*620T>A) c.*639T>A (n.*639T>A) c.817T>A c.1564T>A (p.Leu522Met) c.*597T>A (n.*597T>A) c.484T>A (p.Leu162Met) c.196T>A (p.Leu66Met) c.1720T>A (p.Leu574Met) c.1522T>A (p.Leu508Met) c.676T>A (p.Leu226Met) c.631T>A (p.Leu211Met) c.463T>A (p.Leu155Met) c.337T>A (p.Leu113Met) n.1929T>A | |
12 | g.32611173T>C | CA479167800 | FGD4 | c.1228T>C (p.Leu410=) c.1483T>C (p.Leu495=) c.949T>C (p.Leu317=) c.40T>C (p.Leu14=) n.735T>C c.1639T>C (p.Leu547=) c.*620T>C (n.*620T>C) c.*639T>C (n.*639T>C) c.817T>C c.1564T>C (p.Leu522=) c.*597T>C (n.*597T>C) c.484T>C (p.Leu162=) c.196T>C (p.Leu66=) c.1720T>C (p.Leu574=) c.1522T>C (p.Leu508=) c.676T>C (p.Leu226=) c.631T>C (p.Leu211=) c.463T>C (p.Leu155=) c.337T>C (p.Leu113=) n.1929T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611173T>G | CA384361019 | FGD4 | c.1228T>G (p.Leu410Val) c.1483T>G (p.Leu495Val) c.949T>G (p.Leu317Val) c.40T>G (p.Leu14Val) n.735T>G c.1639T>G (p.Leu547Val) c.*620T>G (n.*620T>G) c.*639T>G (n.*639T>G) c.817T>G c.1564T>G (p.Leu522Val) c.*597T>G (n.*597T>G) c.484T>G (p.Leu162Val) c.196T>G (p.Leu66Val) c.1720T>G (p.Leu574Val) c.1522T>G (p.Leu508Val) c.676T>G (p.Leu226Val) c.631T>G (p.Leu211Val) c.463T>G (p.Leu155Val) c.337T>G (p.Leu113Val) n.1929T>G | |
12 | g.32611173T= | CA2026267784 | FGD4 | c.1228T= (p.Leu410=) c.1483T= (p.Leu495=) c.949T= (p.Leu317=) c.40T= (p.Leu14=) n.735T= c.1639T= (p.Leu547=) c.*620T= (n.*620T=) c.*639T= (n.*639T=) c.817T= c.1564T= (p.Leu522=) c.*597T= (n.*597T=) c.484T= (p.Leu162=) c.196T= (p.Leu66=) c.1720T= (p.Leu574=) c.1522T= (p.Leu508=) c.676T= (p.Leu226=) c.631T= (p.Leu211=) c.463T= (p.Leu155=) c.337T= (p.Leu113=) n.1929T= | |
12 | g.32611174T>A | CA384361020 | FGD4 | c.1229T>A (p.Leu410Ter) c.1484T>A (p.Leu495Ter) c.950T>A (p.Leu317Ter) c.41T>A (p.Leu14Ter) n.736T>A c.1640T>A (p.Leu547Ter) c.*621T>A (n.*621T>A) c.*640T>A (n.*640T>A) c.818T>A c.1565T>A (p.Leu522Ter) c.*598T>A (n.*598T>A) c.485T>A (p.Leu162Ter) c.197T>A (p.Leu66Ter) c.1721T>A (p.Leu574Ter) c.1523T>A (p.Leu508Ter) c.677T>A (p.Leu226Ter) c.632T>A (p.Leu211Ter) c.464T>A (p.Leu155Ter) c.338T>A (p.Leu113Ter) n.1930T>A | |
12 | g.32611174T>C | CA384361021 | FGD4 | c.1229T>C (p.Leu410Ser) c.1484T>C (p.Leu495Ser) c.950T>C (p.Leu317Ser) c.41T>C (p.Leu14Ser) n.736T>C c.1640T>C (p.Leu547Ser) c.*621T>C (n.*621T>C) c.*640T>C (n.*640T>C) c.818T>C c.1565T>C (p.Leu522Ser) c.*598T>C (n.*598T>C) c.485T>C (p.Leu162Ser) c.197T>C (p.Leu66Ser) c.1721T>C (p.Leu574Ser) c.1523T>C (p.Leu508Ser) c.677T>C (p.Leu226Ser) c.632T>C (p.Leu211Ser) c.464T>C (p.Leu155Ser) c.338T>C (p.Leu113Ser) n.1930T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611174T>G | CA384361022 | FGD4 | c.1229T>G (p.Leu410Trp) c.1484T>G (p.Leu495Trp) c.950T>G (p.Leu317Trp) c.41T>G (p.Leu14Trp) n.736T>G c.1640T>G (p.Leu547Trp) c.*621T>G (n.*621T>G) c.*640T>G (n.*640T>G) c.818T>G c.1565T>G (p.Leu522Trp) c.*598T>G (n.*598T>G) c.485T>G (p.Leu162Trp) c.197T>G (p.Leu66Trp) c.1721T>G (p.Leu574Trp) c.1523T>G (p.Leu508Trp) c.677T>G (p.Leu226Trp) c.632T>G (p.Leu211Trp) c.464T>G (p.Leu155Trp) c.338T>G (p.Leu113Trp) n.1930T>G | |
12 | g.32611174T= | CA2026267785 | FGD4 | c.1229T= (p.Leu410=) c.1484T= (p.Leu495=) c.950T= (p.Leu317=) c.41T= (p.Leu14=) n.736T= c.1640T= (p.Leu547=) c.*621T= (n.*621T=) c.*640T= (n.*640T=) c.818T= c.1565T= (p.Leu522=) c.*598T= (n.*598T=) c.485T= (p.Leu162=) c.197T= (p.Leu66=) c.1721T= (p.Leu574=) c.1523T= (p.Leu508=) c.677T= (p.Leu226=) c.632T= (p.Leu211=) c.464T= (p.Leu155=) c.338T= (p.Leu113=) n.1930T= | |
12 | g.32611175G>A | CA479167801 | FGD4 | c.1230G>A (p.Leu410=) c.1485G>A (p.Leu495=) c.951G>A (p.Leu317=) c.42G>A (p.Leu14=) n.737G>A c.1641G>A (p.Leu547=) c.*622G>A (n.*622G>A) c.*641G>A (n.*641G>A) c.819G>A c.1566G>A (p.Leu522=) c.*599G>A (n.*599G>A) c.486G>A (p.Leu162=) c.198G>A (p.Leu66=) c.1722G>A (p.Leu574=) c.1524G>A (p.Leu508=) c.678G>A (p.Leu226=) c.633G>A (p.Leu211=) c.465G>A (p.Leu155=) c.339G>A (p.Leu113=) n.1931G>A | |
12 | g.32611175G>C | CA384361023 | FGD4 | c.1230G>C (p.Leu410Phe) c.1485G>C (p.Leu495Phe) c.951G>C (p.Leu317Phe) c.42G>C (p.Leu14Phe) n.737G>C c.1641G>C (p.Leu547Phe) c.*622G>C (n.*622G>C) c.*641G>C (n.*641G>C) c.819G>C c.1566G>C (p.Leu522Phe) c.*599G>C (n.*599G>C) c.486G>C (p.Leu162Phe) c.198G>C (p.Leu66Phe) c.1722G>C (p.Leu574Phe) c.1524G>C (p.Leu508Phe) c.678G>C (p.Leu226Phe) c.633G>C (p.Leu211Phe) c.465G>C (p.Leu155Phe) c.339G>C (p.Leu113Phe) n.1931G>C | |
12 | g.32611175G>T | CA384361024 | FGD4 | c.1230G>T (p.Leu410Phe) c.1485G>T (p.Leu495Phe) c.951G>T (p.Leu317Phe) c.42G>T (p.Leu14Phe) n.737G>T c.1641G>T (p.Leu547Phe) c.*622G>T (n.*622G>T) c.*641G>T (n.*641G>T) c.819G>T c.1566G>T (p.Leu522Phe) c.*599G>T (n.*599G>T) c.486G>T (p.Leu162Phe) c.198G>T (p.Leu66Phe) c.1722G>T (p.Leu574Phe) c.1524G>T (p.Leu508Phe) c.678G>T (p.Leu226Phe) c.633G>T (p.Leu211Phe) c.465G>T (p.Leu155Phe) c.339G>T (p.Leu113Phe) n.1931G>T | |
12 | g.32611176G>A | CA384361027 | FGD4 | c.1231G>A (p.Gly411Arg) c.1486G>A (p.Gly496Arg) c.952G>A (p.Gly318Arg) c.43G>A (p.Gly15Arg) n.738G>A c.1642G>A (p.Gly548Arg) c.*623G>A (n.*623G>A) c.*642G>A (n.*642G>A) c.820G>A c.1567G>A (p.Gly523Arg) c.*600G>A (n.*600G>A) c.487G>A (p.Gly163Arg) c.199G>A (p.Gly67Arg) c.1723G>A (p.Gly575Arg) c.1525G>A (p.Gly509Arg) c.679G>A (p.Gly227Arg) c.634G>A (p.Gly212Arg) c.466G>A (p.Gly156Arg) c.340G>A (p.Gly114Arg) n.1932G>A | dbSNP gnomAD v4 |
12 | g.32611176G>C | CA384361026 | FGD4 | c.1231G>C (p.Gly411Arg) c.1486G>C (p.Gly496Arg) c.952G>C (p.Gly318Arg) c.43G>C (p.Gly15Arg) n.738G>C c.1642G>C (p.Gly548Arg) c.*623G>C (n.*623G>C) c.*642G>C (n.*642G>C) c.820G>C c.1567G>C (p.Gly523Arg) c.*600G>C (n.*600G>C) c.487G>C (p.Gly163Arg) c.199G>C (p.Gly67Arg) c.1723G>C (p.Gly575Arg) c.1525G>C (p.Gly509Arg) c.679G>C (p.Gly227Arg) c.634G>C (p.Gly212Arg) c.466G>C (p.Gly156Arg) c.340G>C (p.Gly114Arg) n.1932G>C | |
12 | g.32611176G= | CA2026267786 | FGD4 | c.1231G= (p.Gly411=) c.1486G= (p.Gly496=) c.952G= (p.Gly318=) c.43G= (p.Gly15=) n.738G= c.1642G= (p.Gly548=) c.*623G= (n.*623G=) c.*642G= (n.*642G=) c.820G= c.1567G= (p.Gly523=) c.*600G= (n.*600G=) c.487G= (p.Gly163=) c.199G= (p.Gly67=) c.1723G= (p.Gly575=) c.1525G= (p.Gly509=) c.679G= (p.Gly227=) c.634G= (p.Gly212=) c.466G= (p.Gly156=) c.340G= (p.Gly114=) n.1932G= | |
12 | g.32611176G>T | CA384361025 | FGD4 | c.1231G>T (p.Gly411Ter) c.1486G>T (p.Gly496Ter) c.952G>T (p.Gly318Ter) c.43G>T (p.Gly15Ter) n.738G>T c.1642G>T (p.Gly548Ter) c.*623G>T (n.*623G>T) c.*642G>T (n.*642G>T) c.820G>T c.1567G>T (p.Gly523Ter) c.*600G>T (n.*600G>T) c.487G>T (p.Gly163Ter) c.199G>T (p.Gly67Ter) c.1723G>T (p.Gly575Ter) c.1525G>T (p.Gly509Ter) c.679G>T (p.Gly227Ter) c.634G>T (p.Gly212Ter) c.466G>T (p.Gly156Ter) c.340G>T (p.Gly114Ter) n.1932G>T | |
12 | g.32611177_32611179dup | CA2575117596 | FGD4 | c.1232_1234dup (p.Gly411_Glu412insGly) c.1487_1489dup (p.Gly496_Glu497insGly) c.953_955dup (p.Gly318_Glu319insGly) c.44_46dup (p.Gly15_Glu16insGly) n.739_741dup c.1643_1645dup (p.Gly548_Glu549insGly) c.*624_*626dup (n.*624_*626dup) c.*643_*645dup (n.*643_*645dup) c.821_823dup c.1568_1570dup (p.Gly523_Glu524insGly) c.*601_*603dup (n.*601_*603dup) c.488_490dup (p.Gly163_Glu164insGly) c.200_202dup (p.Gly67_Glu68insGly) c.1724_1726dup (p.Gly575_Glu576insGly) c.1526_1528dup (p.Gly509_Glu510insGly) c.680_682dup (p.Gly227_Glu228insGly) c.635_637dup (p.Gly212_Glu213insGly) c.467_469dup (p.Gly156_Glu157insGly) c.341_343dup (p.Gly114_Glu115insGly) n.1933_1935dup | |
12 | g.32611177G>A | CA235216058 | FGD4 | c.1232G>A (p.Gly411Glu) c.1487G>A (p.Gly496Glu) c.953G>A (p.Gly318Glu) c.44G>A (p.Gly15Glu) n.739G>A c.1643G>A (p.Gly548Glu) c.*624G>A (n.*624G>A) c.*643G>A (n.*643G>A) c.821G>A c.1568G>A (p.Gly523Glu) c.*601G>A (n.*601G>A) c.488G>A (p.Gly163Glu) c.200G>A (p.Gly67Glu) c.1724G>A (p.Gly575Glu) c.1526G>A (p.Gly509Glu) c.680G>A (p.Gly227Glu) c.635G>A (p.Gly212Glu) c.467G>A (p.Gly156Glu) c.341G>A (p.Gly114Glu) n.1933G>A | dbSNP gnomAD v4 |
12 | g.32611177G>C | CA384361028 | FGD4 | c.1232G>C (p.Gly411Ala) c.1487G>C (p.Gly496Ala) c.953G>C (p.Gly318Ala) c.44G>C (p.Gly15Ala) n.739G>C c.1643G>C (p.Gly548Ala) c.*624G>C (n.*624G>C) c.*643G>C (n.*643G>C) c.821G>C c.1568G>C (p.Gly523Ala) c.*601G>C (n.*601G>C) c.488G>C (p.Gly163Ala) c.200G>C (p.Gly67Ala) c.1724G>C (p.Gly575Ala) c.1526G>C (p.Gly509Ala) c.680G>C (p.Gly227Ala) c.635G>C (p.Gly212Ala) c.467G>C (p.Gly156Ala) c.341G>C (p.Gly114Ala) n.1933G>C | dbSNP gnomAD v4 |
12 | g.32611177G= | CA2026267787 | FGD4 | c.1232G= (p.Gly411=) c.1487G= (p.Gly496=) c.953G= (p.Gly318=) c.44G= (p.Gly15=) n.739G= c.1643G= (p.Gly548=) c.*624G= (n.*624G=) c.*643G= (n.*643G=) c.821G= c.1568G= (p.Gly523=) c.*601G= (n.*601G=) c.488G= (p.Gly163=) c.200G= (p.Gly67=) c.1724G= (p.Gly575=) c.1526G= (p.Gly509=) c.680G= (p.Gly227=) c.635G= (p.Gly212=) c.467G= (p.Gly156=) c.341G= (p.Gly114=) n.1933G= | |
12 | g.32611177G>T | CA384361029 | FGD4 | c.1232G>T (p.Gly411Val) c.1487G>T (p.Gly496Val) c.953G>T (p.Gly318Val) c.44G>T (p.Gly15Val) n.739G>T c.1643G>T (p.Gly548Val) c.*624G>T (n.*624G>T) c.*643G>T (n.*643G>T) c.821G>T c.1568G>T (p.Gly523Val) c.*601G>T (n.*601G>T) c.488G>T (p.Gly163Val) c.200G>T (p.Gly67Val) c.1724G>T (p.Gly575Val) c.1526G>T (p.Gly509Val) c.680G>T (p.Gly227Val) c.635G>T (p.Gly212Val) c.467G>T (p.Gly156Val) c.341G>T (p.Gly114Val) n.1933G>T | |
12 | g.32611177_32611180delinsGAGA | CA2026267788 | FGD4 | c.1232_1235delinsGAGA (p.Gly411=) c.1487_1490delinsGAGA (p.Gly496=) c.953_956delinsGAGA (p.Gly318=) c.44_47delinsGAGA (p.Gly15=) n.739_742delinsGAGA c.1643_1646delinsGAGA (p.Gly548=) c.*624_*627delinsGAGA (n.*624_*627delinsGAGA) c.*643_*646delinsGAGA (n.*643_*646delinsGAGA) c.821_824delinsGAGA c.1568_1571delinsGAGA (p.Gly523=) c.*601_*604delinsGAGA (n.*601_*604delinsGAGA) c.488_491delinsGAGA (p.Gly163=) c.200_203delinsGAGA (p.Gly67=) c.1724_1727delinsGAGA (p.Gly575=) c.1526_1529delinsGAGA (p.Gly509=) c.680_683delinsGAGA (p.Gly227=) c.635_638delinsGAGA (p.Gly212=) c.467_470delinsGAGA (p.Gly156=) c.341_344delinsGAGA (p.Gly114=) n.1933_1936delinsGAGA | |
12 | g.32611178A>C | CA479167808 | FGD4 | c.1233A>C (p.Gly411=) c.1488A>C (p.Gly496=) c.954A>C (p.Gly318=) c.45A>C (p.Gly15=) n.740A>C c.1644A>C (p.Gly548=) c.*625A>C (n.*625A>C) c.*644A>C (n.*644A>C) c.822A>C c.1569A>C (p.Gly523=) c.*602A>C (n.*602A>C) c.489A>C (p.Gly163=) c.201A>C (p.Gly67=) c.1725A>C (p.Gly575=) c.1527A>C (p.Gly509=) c.681A>C (p.Gly227=) c.636A>C (p.Gly212=) c.468A>C (p.Gly156=) c.342A>C (p.Gly114=) n.1934A>C | |
12 | g.32611178A>G | CA479167809 | FGD4 | c.1233A>G (p.Gly411=) c.1488A>G (p.Gly496=) c.954A>G (p.Gly318=) c.45A>G (p.Gly15=) n.740A>G c.1644A>G (p.Gly548=) c.*625A>G (n.*625A>G) c.*644A>G (n.*644A>G) c.822A>G c.1569A>G (p.Gly523=) c.*602A>G (n.*602A>G) c.489A>G (p.Gly163=) c.201A>G (p.Gly67=) c.1725A>G (p.Gly575=) c.1527A>G (p.Gly509=) c.681A>G (p.Gly227=) c.636A>G (p.Gly212=) c.468A>G (p.Gly156=) c.342A>G (p.Gly114=) n.1934A>G | |
12 | g.32611178A>T | CA479167810 | FGD4 | c.1233A>T (p.Gly411=) c.1488A>T (p.Gly496=) c.954A>T (p.Gly318=) c.45A>T (p.Gly15=) n.740A>T c.1644A>T (p.Gly548=) c.*625A>T (n.*625A>T) c.*644A>T (n.*644A>T) c.822A>T c.1569A>T (p.Gly523=) c.*602A>T (n.*602A>T) c.489A>T (p.Gly163=) c.201A>T (p.Gly67=) c.1725A>T (p.Gly575=) c.1527A>T (p.Gly509=) c.681A>T (p.Gly227=) c.636A>T (p.Gly212=) c.468A>T (p.Gly156=) c.342A>T (p.Gly114=) n.1934A>T | |
12 | g.32611187_32611189del | CA604224658 | FGD4 | c.1242_1244del (p.Glu414del) c.1497_1499del (p.Glu499del) c.963_965del (p.Glu321del) c.54_56del (p.Glu18del) n.749_751del c.1653_1655del (p.Glu551del) c.*634_*636del (n.*634_*636del) c.*653_*655del (n.*653_*655del) c.831_833del c.1578_1580del (p.Glu526del) c.*611_*613del (n.*611_*613del) c.498_500del (p.Glu166del) c.210_212del (p.Glu70del) c.1734_1736del (p.Glu578del) c.1536_1538del (p.Glu512del) c.690_692del (p.Glu230del) c.645_647del (p.Glu215del) c.477_479del (p.Glu159del) c.351_353del (p.Glu117del) n.1943_1945del | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
12 | g.32611179G>A | CA384361030 | FGD4 | c.1234G>A (p.Glu412Lys) c.1489G>A (p.Glu497Lys) c.955G>A (p.Glu319Lys) c.46G>A (p.Glu16Lys) n.741G>A c.1645G>A (p.Glu549Lys) c.*626G>A (n.*626G>A) c.*645G>A (n.*645G>A) c.823G>A c.1570G>A (p.Glu524Lys) c.*603G>A (n.*603G>A) c.490G>A (p.Glu164Lys) c.202G>A (p.Glu68Lys) c.1726G>A (p.Glu576Lys) c.1528G>A (p.Glu510Lys) c.682G>A (p.Glu228Lys) c.637G>A (p.Glu213Lys) c.469G>A (p.Glu157Lys) c.343G>A (p.Glu115Lys) n.1935G>A | |
12 | g.32611179G>C | CA384361031 | FGD4 | c.1234G>C (p.Glu412Gln) c.1489G>C (p.Glu497Gln) c.955G>C (p.Glu319Gln) c.46G>C (p.Glu16Gln) n.741G>C c.1645G>C (p.Glu549Gln) c.*626G>C (n.*626G>C) c.*645G>C (n.*645G>C) c.823G>C c.1570G>C (p.Glu524Gln) c.*603G>C (n.*603G>C) c.490G>C (p.Glu164Gln) c.202G>C (p.Glu68Gln) c.1726G>C (p.Glu576Gln) c.1528G>C (p.Glu510Gln) c.682G>C (p.Glu228Gln) c.637G>C (p.Glu213Gln) c.469G>C (p.Glu157Gln) c.343G>C (p.Glu115Gln) n.1935G>C | |
12 | g.32611179G>T | CA384361032 | FGD4 | c.1234G>T (p.Glu412Ter) c.1489G>T (p.Glu497Ter) c.955G>T (p.Glu319Ter) c.46G>T (p.Glu16Ter) n.741G>T c.1645G>T (p.Glu549Ter) c.*626G>T (n.*626G>T) c.*645G>T (n.*645G>T) c.823G>T c.1570G>T (p.Glu524Ter) c.*603G>T (n.*603G>T) c.490G>T (p.Glu164Ter) c.202G>T (p.Glu68Ter) c.1726G>T (p.Glu576Ter) c.1528G>T (p.Glu510Ter) c.682G>T (p.Glu228Ter) c.637G>T (p.Glu213Ter) c.469G>T (p.Glu157Ter) c.343G>T (p.Glu115Ter) n.1935G>T | |
12 | g.32611180A>C | CA384361033 | FGD4 | c.1235A>C (p.Glu412Ala) c.1490A>C (p.Glu497Ala) c.956A>C (p.Glu319Ala) c.47A>C (p.Glu16Ala) n.742A>C c.1646A>C (p.Glu549Ala) c.*627A>C (n.*627A>C) c.*646A>C (n.*646A>C) c.824A>C c.1571A>C (p.Glu524Ala) c.*604A>C (n.*604A>C) c.491A>C (p.Glu164Ala) c.203A>C (p.Glu68Ala) c.1727A>C (p.Glu576Ala) c.1529A>C (p.Glu510Ala) c.683A>C (p.Glu228Ala) c.638A>C (p.Glu213Ala) c.470A>C (p.Glu157Ala) c.344A>C (p.Glu115Ala) n.1936A>C | |
12 | g.32611180A>G | CA384361034 | FGD4 | c.1235A>G (p.Glu412Gly) c.1490A>G (p.Glu497Gly) c.956A>G (p.Glu319Gly) c.47A>G (p.Glu16Gly) n.742A>G c.1646A>G (p.Glu549Gly) c.*627A>G (n.*627A>G) c.*646A>G (n.*646A>G) c.824A>G c.1571A>G (p.Glu524Gly) c.*604A>G (n.*604A>G) c.491A>G (p.Glu164Gly) c.203A>G (p.Glu68Gly) c.1727A>G (p.Glu576Gly) c.1529A>G (p.Glu510Gly) c.683A>G (p.Glu228Gly) c.638A>G (p.Glu213Gly) c.470A>G (p.Glu157Gly) c.344A>G (p.Glu115Gly) n.1936A>G | |
12 | g.32611180A>T | CA384361035 | FGD4 | c.1235A>T (p.Glu412Val) c.1490A>T (p.Glu497Val) c.956A>T (p.Glu319Val) c.47A>T (p.Glu16Val) n.742A>T c.1646A>T (p.Glu549Val) c.*627A>T (n.*627A>T) c.*646A>T (n.*646A>T) c.824A>T c.1571A>T (p.Glu524Val) c.*604A>T (n.*604A>T) c.491A>T (p.Glu164Val) c.203A>T (p.Glu68Val) c.1727A>T (p.Glu576Val) c.1529A>T (p.Glu510Val) c.683A>T (p.Glu228Val) c.638A>T (p.Glu213Val) c.470A>T (p.Glu157Val) c.344A>T (p.Glu115Val) n.1936A>T | |
12 | g.32611181A>C | CA384361036 | FGD4 | c.1236A>C (p.Glu412Asp) c.1491A>C (p.Glu497Asp) c.957A>C (p.Glu319Asp) c.48A>C (p.Glu16Asp) n.743A>C c.1647A>C (p.Glu549Asp) c.*628A>C (n.*628A>C) c.*647A>C (n.*647A>C) c.825A>C c.1572A>C (p.Glu524Asp) c.*605A>C (n.*605A>C) c.492A>C (p.Glu164Asp) c.204A>C (p.Glu68Asp) c.1728A>C (p.Glu576Asp) c.1530A>C (p.Glu510Asp) c.684A>C (p.Glu228Asp) c.639A>C (p.Glu213Asp) c.471A>C (p.Glu157Asp) c.345A>C (p.Glu115Asp) n.1937A>C | |
12 | g.32611181A>G | CA479167813 | FGD4 | c.1236A>G (p.Glu412=) c.1491A>G (p.Glu497=) c.957A>G (p.Glu319=) c.48A>G (p.Glu16=) n.743A>G c.1647A>G (p.Glu549=) c.*628A>G (n.*628A>G) c.*647A>G (n.*647A>G) c.825A>G c.1572A>G (p.Glu524=) c.*605A>G (n.*605A>G) c.492A>G (p.Glu164=) c.204A>G (p.Glu68=) c.1728A>G (p.Glu576=) c.1530A>G (p.Glu510=) c.684A>G (p.Glu228=) c.639A>G (p.Glu213=) c.471A>G (p.Glu157=) c.345A>G (p.Glu115=) n.1937A>G | gnomAD v4 |
12 | g.32611181A>T | CA384361037 | FGD4 | c.1236A>T (p.Glu412Asp) c.1491A>T (p.Glu497Asp) c.957A>T (p.Glu319Asp) c.48A>T (p.Glu16Asp) n.743A>T c.1647A>T (p.Glu549Asp) c.*628A>T (n.*628A>T) c.*647A>T (n.*647A>T) c.825A>T c.1572A>T (p.Glu524Asp) c.*605A>T (n.*605A>T) c.492A>T (p.Glu164Asp) c.204A>T (p.Glu68Asp) c.1728A>T (p.Glu576Asp) c.1530A>T (p.Glu510Asp) c.684A>T (p.Glu228Asp) c.639A>T (p.Glu213Asp) c.471A>T (p.Glu157Asp) c.345A>T (p.Glu115Asp) n.1937A>T | |
12 | g.32611182G>A | CA384361038 | FGD4 | c.1237G>A (p.Glu413Lys) c.1492G>A (p.Glu498Lys) c.958G>A (p.Glu320Lys) c.49G>A (p.Glu17Lys) n.744G>A c.1648G>A (p.Glu550Lys) c.*629G>A (n.*629G>A) c.*648G>A (n.*648G>A) c.826G>A c.1573G>A (p.Glu525Lys) c.*606G>A (n.*606G>A) c.493G>A (p.Glu165Lys) c.205G>A (p.Glu69Lys) c.1729G>A (p.Glu577Lys) c.1531G>A (p.Glu511Lys) c.685G>A (p.Glu229Lys) c.640G>A (p.Glu214Lys) c.472G>A (p.Glu158Lys) c.346G>A (p.Glu116Lys) n.1938G>A | |
12 | g.32611182G>C | CA384361039 | FGD4 | c.1237G>C (p.Glu413Gln) c.1492G>C (p.Glu498Gln) c.958G>C (p.Glu320Gln) c.49G>C (p.Glu17Gln) n.744G>C c.1648G>C (p.Glu550Gln) c.*629G>C (n.*629G>C) c.*648G>C (n.*648G>C) c.826G>C c.1573G>C (p.Glu525Gln) c.*606G>C (n.*606G>C) c.493G>C (p.Glu165Gln) c.205G>C (p.Glu69Gln) c.1729G>C (p.Glu577Gln) c.1531G>C (p.Glu511Gln) c.685G>C (p.Glu229Gln) c.640G>C (p.Glu214Gln) c.472G>C (p.Glu158Gln) c.346G>C (p.Glu116Gln) n.1938G>C | |
12 | g.32611182G>T | CA384361040 | FGD4 | c.1237G>T (p.Glu413Ter) c.1492G>T (p.Glu498Ter) c.958G>T (p.Glu320Ter) c.49G>T (p.Glu17Ter) n.744G>T c.1648G>T (p.Glu550Ter) c.*629G>T (n.*629G>T) c.*648G>T (n.*648G>T) c.826G>T c.1573G>T (p.Glu525Ter) c.*606G>T (n.*606G>T) c.493G>T (p.Glu165Ter) c.205G>T (p.Glu69Ter) c.1729G>T (p.Glu577Ter) c.1531G>T (p.Glu511Ter) c.685G>T (p.Glu229Ter) c.640G>T (p.Glu214Ter) c.472G>T (p.Glu158Ter) c.346G>T (p.Glu116Ter) n.1938G>T | |
12 | g.32611183A>C | CA384361043 | FGD4 | c.1238A>C (p.Glu413Ala) c.1493A>C (p.Glu498Ala) c.959A>C (p.Glu320Ala) c.50A>C (p.Glu17Ala) n.745A>C c.1649A>C (p.Glu550Ala) c.*630A>C (n.*630A>C) c.*649A>C (n.*649A>C) c.827A>C c.1574A>C (p.Glu525Ala) c.*607A>C (n.*607A>C) c.494A>C (p.Glu165Ala) c.206A>C (p.Glu69Ala) c.1730A>C (p.Glu577Ala) c.1532A>C (p.Glu511Ala) c.686A>C (p.Glu229Ala) c.641A>C (p.Glu214Ala) c.473A>C (p.Glu158Ala) c.347A>C (p.Glu116Ala) n.1939A>C | |
12 | g.32611183A>G | CA384361042 | FGD4 | c.1238A>G (p.Glu413Gly) c.1493A>G (p.Glu498Gly) c.959A>G (p.Glu320Gly) c.50A>G (p.Glu17Gly) n.745A>G c.1649A>G (p.Glu550Gly) c.*630A>G (n.*630A>G) c.*649A>G (n.*649A>G) c.827A>G c.1574A>G (p.Glu525Gly) c.*607A>G (n.*607A>G) c.494A>G (p.Glu165Gly) c.206A>G (p.Glu69Gly) c.1730A>G (p.Glu577Gly) c.1532A>G (p.Glu511Gly) c.686A>G (p.Glu229Gly) c.641A>G (p.Glu214Gly) c.473A>G (p.Glu158Gly) c.347A>G (p.Glu116Gly) n.1939A>G | gnomAD v4 |
12 | g.32611183A>T | CA384361041 | FGD4 | c.1238A>T (p.Glu413Val) c.1493A>T (p.Glu498Val) c.959A>T (p.Glu320Val) c.50A>T (p.Glu17Val) n.745A>T c.1649A>T (p.Glu550Val) c.*630A>T (n.*630A>T) c.*649A>T (n.*649A>T) c.827A>T c.1574A>T (p.Glu525Val) c.*607A>T (n.*607A>T) c.494A>T (p.Glu165Val) c.206A>T (p.Glu69Val) c.1730A>T (p.Glu577Val) c.1532A>T (p.Glu511Val) c.686A>T (p.Glu229Val) c.641A>T (p.Glu214Val) c.473A>T (p.Glu158Val) c.347A>T (p.Glu116Val) n.1939A>T | |
12 | g.32611184A= | CA2026267789 | FGD4 | c.1239A= (p.Glu413=) c.1494A= (p.Glu498=) c.960A= (p.Glu320=) c.51A= (p.Glu17=) n.746A= c.1650A= (p.Glu550=) c.*631A= (n.*631A=) c.*650A= (n.*650A=) c.828A= c.1575A= (p.Glu525=) c.*608A= (n.*608A=) c.495A= (p.Glu165=) c.207A= (p.Glu69=) c.1731A= (p.Glu577=) c.1533A= (p.Glu511=) c.687A= (p.Glu229=) c.642A= (p.Glu214=) c.474A= (p.Glu158=) c.348A= (p.Glu116=) n.1940A= | |
12 | g.32611184A>C | CA384361044 | FGD4 | c.1239A>C (p.Glu413Asp) c.1494A>C (p.Glu498Asp) c.960A>C (p.Glu320Asp) c.51A>C (p.Glu17Asp) n.746A>C c.1650A>C (p.Glu550Asp) c.*631A>C (n.*631A>C) c.*650A>C (n.*650A>C) c.828A>C c.1575A>C (p.Glu525Asp) c.*608A>C (n.*608A>C) c.495A>C (p.Glu165Asp) c.207A>C (p.Glu69Asp) c.1731A>C (p.Glu577Asp) c.1533A>C (p.Glu511Asp) c.687A>C (p.Glu229Asp) c.642A>C (p.Glu214Asp) c.474A>C (p.Glu158Asp) c.348A>C (p.Glu116Asp) n.1940A>C | ClinVar dbSNP |
12 | g.32611184A>G | CA479167818 | FGD4 | c.1239A>G (p.Glu413=) c.1494A>G (p.Glu498=) c.960A>G (p.Glu320=) c.51A>G (p.Glu17=) n.746A>G c.1650A>G (p.Glu550=) c.*631A>G (n.*631A>G) c.*650A>G (n.*650A>G) c.828A>G c.1575A>G (p.Glu525=) c.*608A>G (n.*608A>G) c.495A>G (p.Glu165=) c.207A>G (p.Glu69=) c.1731A>G (p.Glu577=) c.1533A>G (p.Glu511=) c.687A>G (p.Glu229=) c.642A>G (p.Glu214=) c.474A>G (p.Glu158=) c.348A>G (p.Glu116=) n.1940A>G | |
12 | g.32611184A>T | CA384361045 | FGD4 | c.1239A>T (p.Glu413Asp) c.1494A>T (p.Glu498Asp) c.960A>T (p.Glu320Asp) c.51A>T (p.Glu17Asp) n.746A>T c.1650A>T (p.Glu550Asp) c.*631A>T (n.*631A>T) c.*650A>T (n.*650A>T) c.828A>T c.1575A>T (p.Glu525Asp) c.*608A>T (n.*608A>T) c.495A>T (p.Glu165Asp) c.207A>T (p.Glu69Asp) c.1731A>T (p.Glu577Asp) c.1533A>T (p.Glu511Asp) c.687A>T (p.Glu229Asp) c.642A>T (p.Glu214Asp) c.474A>T (p.Glu158Asp) c.348A>T (p.Glu116Asp) n.1940A>T | |
12 | g.32611185G>A | CA384361046 | FGD4 | c.1240G>A (p.Glu414Lys) c.1495G>A (p.Glu499Lys) c.961G>A (p.Glu321Lys) c.52G>A (p.Glu18Lys) n.747G>A c.1651G>A (p.Glu551Lys) c.*632G>A (n.*632G>A) c.*651G>A (n.*651G>A) c.829G>A c.1576G>A (p.Glu526Lys) c.*609G>A (n.*609G>A) c.496G>A (p.Glu166Lys) c.208G>A (p.Glu70Lys) c.1732G>A (p.Glu578Lys) c.1534G>A (p.Glu512Lys) c.688G>A (p.Glu230Lys) c.643G>A (p.Glu215Lys) c.475G>A (p.Glu159Lys) c.349G>A (p.Glu117Lys) n.1941G>A | |
12 | g.32611185G>C | CA384361047 | FGD4 | c.1240G>C (p.Glu414Gln) c.1495G>C (p.Glu499Gln) c.961G>C (p.Glu321Gln) c.52G>C (p.Glu18Gln) n.747G>C c.1651G>C (p.Glu551Gln) c.*632G>C (n.*632G>C) c.*651G>C (n.*651G>C) c.829G>C c.1576G>C (p.Glu526Gln) c.*609G>C (n.*609G>C) c.496G>C (p.Glu166Gln) c.208G>C (p.Glu70Gln) c.1732G>C (p.Glu578Gln) c.1534G>C (p.Glu512Gln) c.688G>C (p.Glu230Gln) c.643G>C (p.Glu215Gln) c.475G>C (p.Glu159Gln) c.349G>C (p.Glu117Gln) n.1941G>C | |
12 | g.32611185G>T | CA384361048 | FGD4 | c.1240G>T (p.Glu414Ter) c.1495G>T (p.Glu499Ter) c.961G>T (p.Glu321Ter) c.52G>T (p.Glu18Ter) n.747G>T c.1651G>T (p.Glu551Ter) c.*632G>T (n.*632G>T) c.*651G>T (n.*651G>T) c.829G>T c.1576G>T (p.Glu526Ter) c.*609G>T (n.*609G>T) c.496G>T (p.Glu166Ter) c.208G>T (p.Glu70Ter) c.1732G>T (p.Glu578Ter) c.1534G>T (p.Glu512Ter) c.688G>T (p.Glu230Ter) c.643G>T (p.Glu215Ter) c.475G>T (p.Glu159Ter) c.349G>T (p.Glu117Ter) n.1941G>T | |
12 | g.32611186A>C | CA384361049 | FGD4 | c.1241A>C (p.Glu414Ala) c.1496A>C (p.Glu499Ala) c.962A>C (p.Glu321Ala) c.53A>C (p.Glu18Ala) n.748A>C c.1652A>C (p.Glu551Ala) c.*633A>C (n.*633A>C) c.*652A>C (n.*652A>C) c.830A>C c.1577A>C (p.Glu526Ala) c.*610A>C (n.*610A>C) c.497A>C (p.Glu166Ala) c.209A>C (p.Glu70Ala) c.1733A>C (p.Glu578Ala) c.1535A>C (p.Glu512Ala) c.689A>C (p.Glu230Ala) c.644A>C (p.Glu215Ala) c.476A>C (p.Glu159Ala) c.350A>C (p.Glu117Ala) n.1942A>C | |
12 | g.32611186A>G | CA384361050 | FGD4 | c.1241A>G (p.Glu414Gly) c.1496A>G (p.Glu499Gly) c.962A>G (p.Glu321Gly) c.53A>G (p.Glu18Gly) n.748A>G c.1652A>G (p.Glu551Gly) c.*633A>G (n.*633A>G) c.*652A>G (n.*652A>G) c.830A>G c.1577A>G (p.Glu526Gly) c.*610A>G (n.*610A>G) c.497A>G (p.Glu166Gly) c.209A>G (p.Glu70Gly) c.1733A>G (p.Glu578Gly) c.1535A>G (p.Glu512Gly) c.689A>G (p.Glu230Gly) c.644A>G (p.Glu215Gly) c.476A>G (p.Glu159Gly) c.350A>G (p.Glu117Gly) n.1942A>G | |
12 | g.32611186A>T | CA384361051 | FGD4 | c.1241A>T (p.Glu414Val) c.1496A>T (p.Glu499Val) c.962A>T (p.Glu321Val) c.53A>T (p.Glu18Val) n.748A>T c.1652A>T (p.Glu551Val) c.*633A>T (n.*633A>T) c.*652A>T (n.*652A>T) c.830A>T c.1577A>T (p.Glu526Val) c.*610A>T (n.*610A>T) c.497A>T (p.Glu166Val) c.209A>T (p.Glu70Val) c.1733A>T (p.Glu578Val) c.1535A>T (p.Glu512Val) c.689A>T (p.Glu230Val) c.644A>T (p.Glu215Val) c.476A>T (p.Glu159Val) c.350A>T (p.Glu117Val) n.1942A>T | |
12 | g.32611187A= | CA2026267790 | FGD4 | c.1242A= (p.Glu414=) c.1497A= (p.Glu499=) c.963A= (p.Glu321=) c.54A= (p.Glu18=) n.749A= c.1653A= (p.Glu551=) c.*634A= (n.*634A=) c.*653A= (n.*653A=) c.831A= c.1578A= (p.Glu526=) c.*611A= (n.*611A=) c.498A= (p.Glu166=) c.210A= (p.Glu70=) c.1734A= (p.Glu578=) c.1536A= (p.Glu512=) c.690A= (p.Glu230=) c.645A= (p.Glu215=) c.477A= (p.Glu159=) c.351A= (p.Glu117=) n.1943A= | |
12 | g.32611187A>C | CA384361052 | FGD4 | c.1242A>C (p.Glu414Asp) c.1497A>C (p.Glu499Asp) c.963A>C (p.Glu321Asp) c.54A>C (p.Glu18Asp) n.749A>C c.1653A>C (p.Glu551Asp) c.*634A>C (n.*634A>C) c.*653A>C (n.*653A>C) c.831A>C c.1578A>C (p.Glu526Asp) c.*611A>C (n.*611A>C) c.498A>C (p.Glu166Asp) c.210A>C (p.Glu70Asp) c.1734A>C (p.Glu578Asp) c.1536A>C (p.Glu512Asp) c.690A>C (p.Glu230Asp) c.645A>C (p.Glu215Asp) c.477A>C (p.Glu159Asp) c.351A>C (p.Glu117Asp) n.1943A>C | |
12 | g.32611187A>G | CA479167823 | FGD4 | c.1242A>G (p.Glu414=) c.1497A>G (p.Glu499=) c.963A>G (p.Glu321=) c.54A>G (p.Glu18=) n.749A>G c.1653A>G (p.Glu551=) c.*634A>G (n.*634A>G) c.*653A>G (n.*653A>G) c.831A>G c.1578A>G (p.Glu526=) c.*611A>G (n.*611A>G) c.498A>G (p.Glu166=) c.210A>G (p.Glu70=) c.1734A>G (p.Glu578=) c.1536A>G (p.Glu512=) c.690A>G (p.Glu230=) c.645A>G (p.Glu215=) c.477A>G (p.Glu159=) c.351A>G (p.Glu117=) n.1943A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611187A>T | CA384361053 | FGD4 | c.1242A>T (p.Glu414Asp) c.1497A>T (p.Glu499Asp) c.963A>T (p.Glu321Asp) c.54A>T (p.Glu18Asp) n.749A>T c.1653A>T (p.Glu551Asp) c.*634A>T (n.*634A>T) c.*653A>T (n.*653A>T) c.831A>T c.1578A>T (p.Glu526Asp) c.*611A>T (n.*611A>T) c.498A>T (p.Glu166Asp) c.210A>T (p.Glu70Asp) c.1734A>T (p.Glu578Asp) c.1536A>T (p.Glu512Asp) c.690A>T (p.Glu230Asp) c.645A>T (p.Glu215Asp) c.477A>T (p.Glu159Asp) c.351A>T (p.Glu117Asp) n.1943A>T | |
12 | g.32611188G>A | CA384361054 | FGD4 | c.1243G>A (p.Asp415Asn) c.1498G>A (p.Asp500Asn) c.964G>A (p.Asp322Asn) c.55G>A (p.Asp19Asn) n.750G>A c.1654G>A (p.Asp552Asn) c.*635G>A (n.*635G>A) c.*654G>A (n.*654G>A) c.832G>A c.1579G>A (p.Asp527Asn) c.*612G>A (n.*612G>A) c.499G>A (p.Asp167Asn) c.211G>A (p.Asp71Asn) c.1735G>A (p.Asp579Asn) c.1537G>A (p.Asp513Asn) c.691G>A (p.Asp231Asn) c.646G>A (p.Asp216Asn) c.478G>A (p.Asp160Asn) c.352G>A (p.Asp118Asn) n.1944G>A | |
12 | g.32611188G>C | CA384361055 | FGD4 | c.1243G>C (p.Asp415His) c.1498G>C (p.Asp500His) c.964G>C (p.Asp322His) c.55G>C (p.Asp19His) n.750G>C c.1654G>C (p.Asp552His) c.*635G>C (n.*635G>C) c.*654G>C (n.*654G>C) c.832G>C c.1579G>C (p.Asp527His) c.*612G>C (n.*612G>C) c.499G>C (p.Asp167His) c.211G>C (p.Asp71His) c.1735G>C (p.Asp579His) c.1537G>C (p.Asp513His) c.691G>C (p.Asp231His) c.646G>C (p.Asp216His) c.478G>C (p.Asp160His) c.352G>C (p.Asp118His) n.1944G>C | |
12 | g.32611188G>T | CA384361056 | FGD4 | c.1243G>T (p.Asp415Tyr) c.1498G>T (p.Asp500Tyr) c.964G>T (p.Asp322Tyr) c.55G>T (p.Asp19Tyr) n.750G>T c.1654G>T (p.Asp552Tyr) c.*635G>T (n.*635G>T) c.*654G>T (n.*654G>T) c.832G>T c.1579G>T (p.Asp527Tyr) c.*612G>T (n.*612G>T) c.499G>T (p.Asp167Tyr) c.211G>T (p.Asp71Tyr) c.1735G>T (p.Asp579Tyr) c.1537G>T (p.Asp513Tyr) c.691G>T (p.Asp231Tyr) c.646G>T (p.Asp216Tyr) c.478G>T (p.Asp160Tyr) c.352G>T (p.Asp118Tyr) n.1944G>T | |
12 | g.32611189A>C | CA384361059 | FGD4 | c.1244A>C (p.Asp415Ala) c.1499A>C (p.Asp500Ala) c.965A>C (p.Asp322Ala) c.56A>C (p.Asp19Ala) n.751A>C c.1655A>C (p.Asp552Ala) c.*636A>C (n.*636A>C) c.*655A>C (n.*655A>C) c.833A>C c.1580A>C (p.Asp527Ala) c.*613A>C (n.*613A>C) c.500A>C (p.Asp167Ala) c.212A>C (p.Asp71Ala) c.1736A>C (p.Asp579Ala) c.1538A>C (p.Asp513Ala) c.692A>C (p.Asp231Ala) c.647A>C (p.Asp216Ala) c.479A>C (p.Asp160Ala) c.353A>C (p.Asp118Ala) n.1945A>C | |
12 | g.32611189A>G | CA384361058 | FGD4 | c.1244A>G (p.Asp415Gly) c.1499A>G (p.Asp500Gly) c.965A>G (p.Asp322Gly) c.56A>G (p.Asp19Gly) n.751A>G c.1655A>G (p.Asp552Gly) c.*636A>G (n.*636A>G) c.*655A>G (n.*655A>G) c.833A>G c.1580A>G (p.Asp527Gly) c.*613A>G (n.*613A>G) c.500A>G (p.Asp167Gly) c.212A>G (p.Asp71Gly) c.1736A>G (p.Asp579Gly) c.1538A>G (p.Asp513Gly) c.692A>G (p.Asp231Gly) c.647A>G (p.Asp216Gly) c.479A>G (p.Asp160Gly) c.353A>G (p.Asp118Gly) n.1945A>G | |
12 | g.32611189A>T | CA384361057 | FGD4 | c.1244A>T (p.Asp415Val) c.1499A>T (p.Asp500Val) c.965A>T (p.Asp322Val) c.56A>T (p.Asp19Val) n.751A>T c.1655A>T (p.Asp552Val) c.*636A>T (n.*636A>T) c.*655A>T (n.*655A>T) c.833A>T c.1580A>T (p.Asp527Val) c.*613A>T (n.*613A>T) c.500A>T (p.Asp167Val) c.212A>T (p.Asp71Val) c.1736A>T (p.Asp579Val) c.1538A>T (p.Asp513Val) c.692A>T (p.Asp231Val) c.647A>T (p.Asp216Val) c.479A>T (p.Asp160Val) c.353A>T (p.Asp118Val) n.1945A>T | |
12 | g.32611190C>A | CA6506851 | FGD4 | c.1245C>A (p.Asp415Glu) c.1500C>A (p.Asp500Glu) c.966C>A (p.Asp322Glu) c.57C>A (p.Asp19Glu) n.752C>A c.1656C>A (p.Asp552Glu) c.*637C>A (n.*637C>A) c.*656C>A (n.*656C>A) c.834C>A c.1581C>A (p.Asp527Glu) c.*614C>A (n.*614C>A) c.501C>A (p.Asp167Glu) c.213C>A (p.Asp71Glu) c.1737C>A (p.Asp579Glu) c.1539C>A (p.Asp513Glu) c.693C>A (p.Asp231Glu) c.648C>A (p.Asp216Glu) c.480C>A (p.Asp160Glu) c.354C>A (p.Asp118Glu) n.1946C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.32611190C= | CA2026267791 | FGD4 | c.1245C= (p.Asp415=) c.1500C= (p.Asp500=) c.966C= (p.Asp322=) c.57C= (p.Asp19=) n.752C= c.1656C= (p.Asp552=) c.*637C= (n.*637C=) c.*656C= (n.*656C=) c.834C= c.1581C= (p.Asp527=) c.*614C= (n.*614C=) c.501C= (p.Asp167=) c.213C= (p.Asp71=) c.1737C= (p.Asp579=) c.1539C= (p.Asp513=) c.693C= (p.Asp231=) c.648C= (p.Asp216=) c.480C= (p.Asp160=) c.354C= (p.Asp118=) n.1946C= | |
12 | g.32611190C>G | CA384361060 | FGD4 | c.1245C>G (p.Asp415Glu) c.1500C>G (p.Asp500Glu) c.966C>G (p.Asp322Glu) c.57C>G (p.Asp19Glu) n.752C>G c.1656C>G (p.Asp552Glu) c.*637C>G (n.*637C>G) c.*656C>G (n.*656C>G) c.834C>G c.1581C>G (p.Asp527Glu) c.*614C>G (n.*614C>G) c.501C>G (p.Asp167Glu) c.213C>G (p.Asp71Glu) c.1737C>G (p.Asp579Glu) c.1539C>G (p.Asp513Glu) c.693C>G (p.Asp231Glu) c.648C>G (p.Asp216Glu) c.480C>G (p.Asp160Glu) c.354C>G (p.Asp118Glu) n.1946C>G | |
12 | g.32611190C>T | CA6506852 | FGD4 | c.1245C>T (p.Asp415=) c.1500C>T (p.Asp500=) c.966C>T (p.Asp322=) c.57C>T (p.Asp19=) n.752C>T c.1656C>T (p.Asp552=) c.*637C>T (n.*637C>T) c.*656C>T (n.*656C>T) c.834C>T c.1581C>T (p.Asp527=) c.*614C>T (n.*614C>T) c.501C>T (p.Asp167=) c.213C>T (p.Asp71=) c.1737C>T (p.Asp579=) c.1539C>T (p.Asp513=) c.693C>T (p.Asp231=) c.648C>T (p.Asp216=) c.480C>T (p.Asp160=) c.354C>T (p.Asp118=) n.1946C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611191A= | CA2026267792 | FGD4 | c.1246A= (p.Ile416=) c.1501A= (p.Ile501=) c.967A= (p.Ile323=) c.58A= (p.Ile20=) n.753A= c.1657A= (p.Ile553=) c.*638A= (n.*638A=) c.*657A= (n.*657A=) c.835A= c.1582A= (p.Ile528=) c.*615A= (n.*615A=) c.502A= (p.Ile168=) c.214A= (p.Ile72=) c.1738A= (p.Ile580=) c.1540A= (p.Ile514=) c.694A= (p.Ile232=) c.649A= (p.Ile217=) c.481A= (p.Ile161=) c.355A= (p.Ile119=) n.1947A= | |
12 | g.32611191A>C | CA384361061 | FGD4 | c.1246A>C (p.Ile416Leu) c.1501A>C (p.Ile501Leu) c.967A>C (p.Ile323Leu) c.58A>C (p.Ile20Leu) n.753A>C c.1657A>C (p.Ile553Leu) c.*638A>C (n.*638A>C) c.*657A>C (n.*657A>C) c.835A>C c.1582A>C (p.Ile528Leu) c.*615A>C (n.*615A>C) c.502A>C (p.Ile168Leu) c.214A>C (p.Ile72Leu) c.1738A>C (p.Ile580Leu) c.1540A>C (p.Ile514Leu) c.694A>C (p.Ile232Leu) c.649A>C (p.Ile217Leu) c.481A>C (p.Ile161Leu) c.355A>C (p.Ile119Leu) n.1947A>C | |
12 | g.32611191A>G | CA16614114 | FGD4 | c.1246A>G (p.Ile416Val) c.1501A>G (p.Ile501Val) c.967A>G (p.Ile323Val) c.58A>G (p.Ile20Val) n.753A>G c.1657A>G (p.Ile553Val) c.*638A>G (n.*638A>G) c.*657A>G (n.*657A>G) c.835A>G c.1582A>G (p.Ile528Val) c.*615A>G (n.*615A>G) c.502A>G (p.Ile168Val) c.214A>G (p.Ile72Val) c.1738A>G (p.Ile580Val) c.1540A>G (p.Ile514Val) c.694A>G (p.Ile232Val) c.649A>G (p.Ile217Val) c.481A>G (p.Ile161Val) c.355A>G (p.Ile119Val) n.1947A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.32611191A>T | CA384361062 | FGD4 | c.1246A>T (p.Ile416Phe) c.1501A>T (p.Ile501Phe) c.967A>T (p.Ile323Phe) c.58A>T (p.Ile20Phe) n.753A>T c.1657A>T (p.Ile553Phe) c.*638A>T (n.*638A>T) c.*657A>T (n.*657A>T) c.835A>T c.1582A>T (p.Ile528Phe) c.*615A>T (n.*615A>T) c.502A>T (p.Ile168Phe) c.214A>T (p.Ile72Phe) c.1738A>T (p.Ile580Phe) c.1540A>T (p.Ile514Phe) c.694A>T (p.Ile232Phe) c.649A>T (p.Ile217Phe) c.481A>T (p.Ile161Phe) c.355A>T (p.Ile119Phe) n.1947A>T | |
12 | g.32611192T>A | CA384361063 | FGD4 | c.1247T>A (p.Ile416Asn) c.1502T>A (p.Ile501Asn) c.968T>A (p.Ile323Asn) c.59T>A (p.Ile20Asn) n.754T>A c.1658T>A (p.Ile553Asn) c.*639T>A (n.*639T>A) c.*658T>A (n.*658T>A) c.836T>A c.1583T>A (p.Ile528Asn) c.*616T>A (n.*616T>A) c.503T>A (p.Ile168Asn) c.215T>A (p.Ile72Asn) c.1739T>A (p.Ile580Asn) c.1541T>A (p.Ile514Asn) c.695T>A (p.Ile232Asn) c.650T>A (p.Ile217Asn) c.482T>A (p.Ile161Asn) c.356T>A (p.Ile119Asn) n.1948T>A | |
12 | g.32611192T>C | CA384361064 | FGD4 | c.1247T>C (p.Ile416Thr) c.1502T>C (p.Ile501Thr) c.968T>C (p.Ile323Thr) c.59T>C (p.Ile20Thr) n.754T>C c.1658T>C (p.Ile553Thr) c.*639T>C (n.*639T>C) c.*658T>C (n.*658T>C) c.836T>C c.1583T>C (p.Ile528Thr) c.*616T>C (n.*616T>C) c.503T>C (p.Ile168Thr) c.215T>C (p.Ile72Thr) c.1739T>C (p.Ile580Thr) c.1541T>C (p.Ile514Thr) c.695T>C (p.Ile232Thr) c.650T>C (p.Ile217Thr) c.482T>C (p.Ile161Thr) c.356T>C (p.Ile119Thr) n.1948T>C | |
12 | g.32611192T>G | CA384361065 | FGD4 | c.1247T>G (p.Ile416Ser) c.1502T>G (p.Ile501Ser) c.968T>G (p.Ile323Ser) c.59T>G (p.Ile20Ser) n.754T>G c.1658T>G (p.Ile553Ser) c.*639T>G (n.*639T>G) c.*658T>G (n.*658T>G) c.836T>G c.1583T>G (p.Ile528Ser) c.*616T>G (n.*616T>G) c.503T>G (p.Ile168Ser) c.215T>G (p.Ile72Ser) c.1739T>G (p.Ile580Ser) c.1541T>G (p.Ile514Ser) c.695T>G (p.Ile232Ser) c.650T>G (p.Ile217Ser) c.482T>G (p.Ile161Ser) c.356T>G (p.Ile119Ser) n.1948T>G | |
12 | g.32611193T>A | CA479167830 | FGD4 | c.1248T>A (p.Ile416=) c.1503T>A (p.Ile501=) c.969T>A (p.Ile323=) c.60T>A (p.Ile20=) n.755T>A c.1659T>A (p.Ile553=) c.*640T>A (n.*640T>A) c.*659T>A (n.*659T>A) c.837T>A c.1584T>A (p.Ile528=) c.*617T>A (n.*617T>A) c.504T>A (p.Ile168=) c.216T>A (p.Ile72=) c.1740T>A (p.Ile580=) c.1542T>A (p.Ile514=) c.696T>A (p.Ile232=) c.651T>A (p.Ile217=) c.483T>A (p.Ile161=) c.357T>A (p.Ile119=) n.1949T>A | |
12 | g.32611193T>C | CA479167831 | FGD4 | c.1248T>C (p.Ile416=) c.1503T>C (p.Ile501=) c.969T>C (p.Ile323=) c.60T>C (p.Ile20=) n.755T>C c.1659T>C (p.Ile553=) c.*640T>C (n.*640T>C) c.*659T>C (n.*659T>C) c.837T>C c.1584T>C (p.Ile528=) c.*617T>C (n.*617T>C) c.504T>C (p.Ile168=) c.216T>C (p.Ile72=) c.1740T>C (p.Ile580=) c.1542T>C (p.Ile514=) c.696T>C (p.Ile232=) c.651T>C (p.Ile217=) c.483T>C (p.Ile161=) c.357T>C (p.Ile119=) n.1949T>C | |
12 | g.32611193T>G | CA384361066 | FGD4 | c.1248T>G (p.Ile416Met) c.1503T>G (p.Ile501Met) c.969T>G (p.Ile323Met) c.60T>G (p.Ile20Met) n.755T>G c.1659T>G (p.Ile553Met) c.*640T>G (n.*640T>G) c.*659T>G (n.*659T>G) c.837T>G c.1584T>G (p.Ile528Met) c.*617T>G (n.*617T>G) c.504T>G (p.Ile168Met) c.216T>G (p.Ile72Met) c.1740T>G (p.Ile580Met) c.1542T>G (p.Ile514Met) c.696T>G (p.Ile232Met) c.651T>G (p.Ile217Met) c.483T>G (p.Ile161Met) c.357T>G (p.Ile119Met) n.1949T>G | |
12 | g.32611194G>A | CA384361067 | FGD4 | c.1249G>A (p.Val417Ile) c.1504G>A (p.Val502Ile) c.970G>A (p.Val324Ile) c.61G>A (p.Val21Ile) n.756G>A c.1660G>A (p.Val554Ile) c.*641G>A (n.*641G>A) c.*660G>A (n.*660G>A) c.838G>A c.1585G>A (p.Val529Ile) c.*618G>A (n.*618G>A) c.505G>A (p.Val169Ile) c.217G>A (p.Val73Ile) c.1741G>A (p.Val581Ile) c.1543G>A (p.Val515Ile) c.697G>A (p.Val233Ile) c.652G>A (p.Val218Ile) c.484G>A (p.Val162Ile) c.358G>A (p.Val120Ile) n.1950G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611194G>C | CA384361068 | FGD4 | c.1249G>C (p.Val417Leu) c.1504G>C (p.Val502Leu) c.970G>C (p.Val324Leu) c.61G>C (p.Val21Leu) n.756G>C c.1660G>C (p.Val554Leu) c.*641G>C (n.*641G>C) c.*660G>C (n.*660G>C) c.838G>C c.1585G>C (p.Val529Leu) c.*618G>C (n.*618G>C) c.505G>C (p.Val169Leu) c.217G>C (p.Val73Leu) c.1741G>C (p.Val581Leu) c.1543G>C (p.Val515Leu) c.697G>C (p.Val233Leu) c.652G>C (p.Val218Leu) c.484G>C (p.Val162Leu) c.358G>C (p.Val120Leu) n.1950G>C | |
12 | g.32611194G= | CA2026267793 | FGD4 | c.1249G= (p.Val417=) c.1504G= (p.Val502=) c.970G= (p.Val324=) c.61G= (p.Val21=) n.756G= c.1660G= (p.Val554=) c.*641G= (n.*641G=) c.*660G= (n.*660G=) c.838G= c.1585G= (p.Val529=) c.*618G= (n.*618G=) c.505G= (p.Val169=) c.217G= (p.Val73=) c.1741G= (p.Val581=) c.1543G= (p.Val515=) c.697G= (p.Val233=) c.652G= (p.Val218=) c.484G= (p.Val162=) c.358G= (p.Val120=) n.1950G= | |
12 | g.32611194G>T | CA384361069 | FGD4 | c.1249G>T (p.Val417Leu) c.1504G>T (p.Val502Leu) c.970G>T (p.Val324Leu) c.61G>T (p.Val21Leu) n.756G>T c.1660G>T (p.Val554Leu) c.*641G>T (n.*641G>T) c.*660G>T (n.*660G>T) c.838G>T c.1585G>T (p.Val529Leu) c.*618G>T (n.*618G>T) c.505G>T (p.Val169Leu) c.217G>T (p.Val73Leu) c.1741G>T (p.Val581Leu) c.1543G>T (p.Val515Leu) c.697G>T (p.Val233Leu) c.652G>T (p.Val218Leu) c.484G>T (p.Val162Leu) c.358G>T (p.Val120Leu) n.1950G>T | gnomAD v4 |
12 | g.32611195T>A | CA384361071 | FGD4 | c.1250T>A (p.Val417Glu) c.1505T>A (p.Val502Glu) c.971T>A (p.Val324Glu) c.62T>A (p.Val21Glu) n.757T>A c.1661T>A (p.Val554Glu) c.*642T>A (n.*642T>A) c.*661T>A (n.*661T>A) c.839T>A c.1586T>A (p.Val529Glu) c.*619T>A (n.*619T>A) c.506T>A (p.Val169Glu) c.218T>A (p.Val73Glu) c.1742T>A (p.Val581Glu) c.1544T>A (p.Val515Glu) c.698T>A (p.Val233Glu) c.653T>A (p.Val218Glu) c.485T>A (p.Val162Glu) c.359T>A (p.Val120Glu) n.1951T>A | |
12 | g.32611195T>C | CA384361072 | FGD4 | c.1250T>C (p.Val417Ala) c.1505T>C (p.Val502Ala) c.971T>C (p.Val324Ala) c.62T>C (p.Val21Ala) n.757T>C c.1661T>C (p.Val554Ala) c.*642T>C (n.*642T>C) c.*661T>C (n.*661T>C) c.839T>C c.1586T>C (p.Val529Ala) c.*619T>C (n.*619T>C) c.506T>C (p.Val169Ala) c.218T>C (p.Val73Ala) c.1742T>C (p.Val581Ala) c.1544T>C (p.Val515Ala) c.698T>C (p.Val233Ala) c.653T>C (p.Val218Ala) c.485T>C (p.Val162Ala) c.359T>C (p.Val120Ala) n.1951T>C | |
12 | g.32611195T>G | CA384361070 | FGD4 | c.1250T>G (p.Val417Gly) c.1505T>G (p.Val502Gly) c.971T>G (p.Val324Gly) c.62T>G (p.Val21Gly) n.757T>G c.1661T>G (p.Val554Gly) c.*642T>G (n.*642T>G) c.*661T>G (n.*661T>G) c.839T>G c.1586T>G (p.Val529Gly) c.*619T>G (n.*619T>G) c.506T>G (p.Val169Gly) c.218T>G (p.Val73Gly) c.1742T>G (p.Val581Gly) c.1544T>G (p.Val515Gly) c.698T>G (p.Val233Gly) c.653T>G (p.Val218Gly) c.485T>G (p.Val162Gly) c.359T>G (p.Val120Gly) n.1951T>G | |
12 | g.32611196A>C | CA479167835 | FGD4 | c.1251A>C (p.Val417=) c.1506A>C (p.Val502=) c.972A>C (p.Val324=) c.63A>C (p.Val21=) n.758A>C c.1662A>C (p.Val554=) c.*643A>C (n.*643A>C) c.*662A>C (n.*662A>C) c.840A>C c.1587A>C (p.Val529=) c.*620A>C (n.*620A>C) c.507A>C (p.Val169=) c.219A>C (p.Val73=) c.1743A>C (p.Val581=) c.1545A>C (p.Val515=) c.699A>C (p.Val233=) c.654A>C (p.Val218=) c.486A>C (p.Val162=) c.360A>C (p.Val120=) n.1952A>C | |
12 | g.32611196A>G | CA479167839 | FGD4 | c.1251A>G (p.Val417=) c.1506A>G (p.Val502=) c.972A>G (p.Val324=) c.63A>G (p.Val21=) n.758A>G c.1662A>G (p.Val554=) c.*643A>G (n.*643A>G) c.*662A>G (n.*662A>G) c.840A>G c.1587A>G (p.Val529=) c.*620A>G (n.*620A>G) c.507A>G (p.Val169=) c.219A>G (p.Val73=) c.1743A>G (p.Val581=) c.1545A>G (p.Val515=) c.699A>G (p.Val233=) c.654A>G (p.Val218=) c.486A>G (p.Val162=) c.360A>G (p.Val120=) n.1952A>G | |
12 | g.32611196A>T | CA479167836 | FGD4 | c.1251A>T (p.Val417=) c.1506A>T (p.Val502=) c.972A>T (p.Val324=) c.63A>T (p.Val21=) n.758A>T c.1662A>T (p.Val554=) c.*643A>T (n.*643A>T) c.*662A>T (n.*662A>T) c.840A>T c.1587A>T (p.Val529=) c.*620A>T (n.*620A>T) c.507A>T (p.Val169=) c.219A>T (p.Val73=) c.1743A>T (p.Val581=) c.1545A>T (p.Val515=) c.699A>T (p.Val233=) c.654A>T (p.Val218=) c.486A>T (p.Val162=) c.360A>T (p.Val120=) n.1952A>T | |
12 | g.32611197A>C | CA384361073 | FGD4 | c.1252A>C (p.Asn418His) c.1507A>C (p.Asn503His) c.973A>C (p.Asn325His) c.64A>C (p.Asn22His) n.759A>C c.1663A>C (p.Asn555His) c.*644A>C (n.*644A>C) c.*663A>C (n.*663A>C) c.841A>C c.1588A>C (p.Asn530His) c.*621A>C (n.*621A>C) c.508A>C (p.Asn170His) c.220A>C (p.Asn74His) c.1744A>C (p.Asn582His) c.1546A>C (p.Asn516His) c.700A>C (p.Asn234His) c.655A>C (p.Asn219His) c.487A>C (p.Asn163His) c.361A>C (p.Asn121His) n.1953A>C | |
12 | g.32611197A>G | CA384361075 | FGD4 | c.1252A>G (p.Asn418Asp) c.1507A>G (p.Asn503Asp) c.973A>G (p.Asn325Asp) c.64A>G (p.Asn22Asp) n.759A>G c.1663A>G (p.Asn555Asp) c.*644A>G (n.*644A>G) c.*663A>G (n.*663A>G) c.841A>G c.1588A>G (p.Asn530Asp) c.*621A>G (n.*621A>G) c.508A>G (p.Asn170Asp) c.220A>G (p.Asn74Asp) c.1744A>G (p.Asn582Asp) c.1546A>G (p.Asn516Asp) c.700A>G (p.Asn234Asp) c.655A>G (p.Asn219Asp) c.487A>G (p.Asn163Asp) c.361A>G (p.Asn121Asp) n.1953A>G | |
12 | g.32611197A>T | CA384361074 | FGD4 | c.1252A>T (p.Asn418Tyr) c.1507A>T (p.Asn503Tyr) c.973A>T (p.Asn325Tyr) c.64A>T (p.Asn22Tyr) n.759A>T c.1663A>T (p.Asn555Tyr) c.*644A>T (n.*644A>T) c.*663A>T (n.*663A>T) c.841A>T c.1588A>T (p.Asn530Tyr) c.*621A>T (n.*621A>T) c.508A>T (p.Asn170Tyr) c.220A>T (p.Asn74Tyr) c.1744A>T (p.Asn582Tyr) c.1546A>T (p.Asn516Tyr) c.700A>T (p.Asn234Tyr) c.655A>T (p.Asn219Tyr) c.487A>T (p.Asn163Tyr) c.361A>T (p.Asn121Tyr) n.1953A>T | |
12 | g.32611198A>C | CA384361076 | FGD4 | c.1253A>C (p.Asn418Thr) c.1508A>C (p.Asn503Thr) c.974A>C (p.Asn325Thr) c.65A>C (p.Asn22Thr) n.760A>C c.1664A>C (p.Asn555Thr) c.*645A>C (n.*645A>C) c.*664A>C (n.*664A>C) c.842A>C c.1589A>C (p.Asn530Thr) c.*622A>C (n.*622A>C) c.509A>C (p.Asn170Thr) c.221A>C (p.Asn74Thr) c.1745A>C (p.Asn582Thr) c.1547A>C (p.Asn516Thr) c.701A>C (p.Asn234Thr) c.656A>C (p.Asn219Thr) c.488A>C (p.Asn163Thr) c.362A>C (p.Asn121Thr) n.1954A>C | |
12 | g.32611198A>G | CA384361077 | FGD4 | c.1253A>G (p.Asn418Ser) c.1508A>G (p.Asn503Ser) c.974A>G (p.Asn325Ser) c.65A>G (p.Asn22Ser) n.760A>G c.1664A>G (p.Asn555Ser) c.*645A>G (n.*645A>G) c.*664A>G (n.*664A>G) c.842A>G c.1589A>G (p.Asn530Ser) c.*622A>G (n.*622A>G) c.509A>G (p.Asn170Ser) c.221A>G (p.Asn74Ser) c.1745A>G (p.Asn582Ser) c.1547A>G (p.Asn516Ser) c.701A>G (p.Asn234Ser) c.656A>G (p.Asn219Ser) c.488A>G (p.Asn163Ser) c.362A>G (p.Asn121Ser) n.1954A>G | COSMIC COSMIC COSMIC |
12 | g.32611198A>T | CA384361078 | FGD4 | c.1253A>T (p.Asn418Ile) c.1508A>T (p.Asn503Ile) c.974A>T (p.Asn325Ile) c.65A>T (p.Asn22Ile) n.760A>T c.1664A>T (p.Asn555Ile) c.*645A>T (n.*645A>T) c.*664A>T (n.*664A>T) c.842A>T c.1589A>T (p.Asn530Ile) c.*622A>T (n.*622A>T) c.509A>T (p.Asn170Ile) c.221A>T (p.Asn74Ile) c.1745A>T (p.Asn582Ile) c.1547A>T (p.Asn516Ile) c.701A>T (p.Asn234Ile) c.656A>T (p.Asn219Ile) c.488A>T (p.Asn163Ile) c.362A>T (p.Asn121Ile) n.1954A>T | |
12 | g.32611199C>A | CA384361079 | FGD4 | c.1254C>A (p.Asn418Lys) c.1509C>A (p.Asn503Lys) c.975C>A (p.Asn325Lys) c.66C>A (p.Asn22Lys) n.761C>A c.1665C>A (p.Asn555Lys) c.*646C>A (n.*646C>A) c.*665C>A (n.*665C>A) c.843C>A c.1590C>A (p.Asn530Lys) c.*623C>A (n.*623C>A) c.510C>A (p.Asn170Lys) c.222C>A (p.Asn74Lys) c.1746C>A (p.Asn582Lys) c.1548C>A (p.Asn516Lys) c.702C>A (p.Asn234Lys) c.657C>A (p.Asn219Lys) c.489C>A (p.Asn163Lys) c.363C>A (p.Asn121Lys) n.1955C>A | |
12 | g.32611199C>G | CA384361080 | FGD4 | c.1254C>G (p.Asn418Lys) c.1509C>G (p.Asn503Lys) c.975C>G (p.Asn325Lys) c.66C>G (p.Asn22Lys) n.761C>G c.1665C>G (p.Asn555Lys) c.*646C>G (n.*646C>G) c.*665C>G (n.*665C>G) c.843C>G c.1590C>G (p.Asn530Lys) c.*623C>G (n.*623C>G) c.510C>G (p.Asn170Lys) c.222C>G (p.Asn74Lys) c.1746C>G (p.Asn582Lys) c.1548C>G (p.Asn516Lys) c.702C>G (p.Asn234Lys) c.657C>G (p.Asn219Lys) c.489C>G (p.Asn163Lys) c.363C>G (p.Asn121Lys) n.1955C>G | |
12 | g.32611199C>T | CA479167844 | FGD4 | c.1254C>T (p.Asn418=) c.1509C>T (p.Asn503=) c.975C>T (p.Asn325=) c.66C>T (p.Asn22=) n.761C>T c.1665C>T (p.Asn555=) c.*646C>T (n.*646C>T) c.*665C>T (n.*665C>T) c.843C>T c.1590C>T (p.Asn530=) c.*623C>T (n.*623C>T) c.510C>T (p.Asn170=) c.222C>T (p.Asn74=) c.1746C>T (p.Asn582=) c.1548C>T (p.Asn516=) c.702C>T (p.Asn234=) c.657C>T (p.Asn219=) c.489C>T (p.Asn163=) c.363C>T (p.Asn121=) n.1955C>T | |
12 | g.32611200C>A | CA384361081 | FGD4 | c.1255C>A (p.Pro419Thr) c.1510C>A (p.Pro504Thr) c.976C>A (p.Pro326Thr) c.67C>A (p.Pro23Thr) n.762C>A c.1666C>A (p.Pro556Thr) c.*647C>A (n.*647C>A) c.*666C>A (n.*666C>A) c.844C>A c.1591C>A (p.Pro531Thr) c.*624C>A (n.*624C>A) c.511C>A (p.Pro171Thr) c.223C>A (p.Pro75Thr) c.1747C>A (p.Pro583Thr) c.1549C>A (p.Pro517Thr) c.703C>A (p.Pro235Thr) c.658C>A (p.Pro220Thr) c.490C>A (p.Pro164Thr) c.364C>A (p.Pro122Thr) n.1956C>A | |
12 | g.32611200C>G | CA384361082 | FGD4 | c.1255C>G (p.Pro419Ala) c.1510C>G (p.Pro504Ala) c.976C>G (p.Pro326Ala) c.67C>G (p.Pro23Ala) n.762C>G c.1666C>G (p.Pro556Ala) c.*647C>G (n.*647C>G) c.*666C>G (n.*666C>G) c.844C>G c.1591C>G (p.Pro531Ala) c.*624C>G (n.*624C>G) c.511C>G (p.Pro171Ala) c.223C>G (p.Pro75Ala) c.1747C>G (p.Pro583Ala) c.1549C>G (p.Pro517Ala) c.703C>G (p.Pro235Ala) c.658C>G (p.Pro220Ala) c.490C>G (p.Pro164Ala) c.364C>G (p.Pro122Ala) n.1956C>G | |
12 | g.32611200C>T | CA384361083 | FGD4 | c.1255C>T (p.Pro419Ser) c.1510C>T (p.Pro504Ser) c.976C>T (p.Pro326Ser) c.67C>T (p.Pro23Ser) n.762C>T c.1666C>T (p.Pro556Ser) c.*647C>T (n.*647C>T) c.*666C>T (n.*666C>T) c.844C>T c.1591C>T (p.Pro531Ser) c.*624C>T (n.*624C>T) c.511C>T (p.Pro171Ser) c.223C>T (p.Pro75Ser) c.1747C>T (p.Pro583Ser) c.1549C>T (p.Pro517Ser) c.703C>T (p.Pro235Ser) c.658C>T (p.Pro220Ser) c.490C>T (p.Pro164Ser) c.364C>T (p.Pro122Ser) n.1956C>T | |
12 | g.32611201C>A | CA384361084 | FGD4 | c.1256C>A (p.Pro419His) c.1511C>A (p.Pro504His) c.977C>A (p.Pro326His) c.68C>A (p.Pro23His) n.763C>A c.1667C>A (p.Pro556His) c.*648C>A (n.*648C>A) c.*667C>A (n.*667C>A) c.845C>A c.1592C>A (p.Pro531His) c.*625C>A (n.*625C>A) c.512C>A (p.Pro171His) c.224C>A (p.Pro75His) c.1748C>A (p.Pro583His) c.1550C>A (p.Pro517His) c.704C>A (p.Pro235His) c.659C>A (p.Pro220His) c.491C>A (p.Pro164His) c.365C>A (p.Pro122His) n.1957C>A | dbSNP gnomAD v4 |
12 | g.32611201C= | CA2026267794 | FGD4 | c.1256C= (p.Pro419=) c.1511C= (p.Pro504=) c.977C= (p.Pro326=) c.68C= (p.Pro23=) n.763C= c.1667C= (p.Pro556=) c.*648C= (n.*648C=) c.*667C= (n.*667C=) c.845C= c.1592C= (p.Pro531=) c.*625C= (n.*625C=) c.512C= (p.Pro171=) c.224C= (p.Pro75=) c.1748C= (p.Pro583=) c.1550C= (p.Pro517=) c.704C= (p.Pro235=) c.659C= (p.Pro220=) c.491C= (p.Pro164=) c.365C= (p.Pro122=) n.1957C= | |
12 | g.32611201C>G | CA384361085 | FGD4 | c.1256C>G (p.Pro419Arg) c.1511C>G (p.Pro504Arg) c.977C>G (p.Pro326Arg) c.68C>G (p.Pro23Arg) n.763C>G c.1667C>G (p.Pro556Arg) c.*648C>G (n.*648C>G) c.*667C>G (n.*667C>G) c.845C>G c.1592C>G (p.Pro531Arg) c.*625C>G (n.*625C>G) c.512C>G (p.Pro171Arg) c.224C>G (p.Pro75Arg) c.1748C>G (p.Pro583Arg) c.1550C>G (p.Pro517Arg) c.704C>G (p.Pro235Arg) c.659C>G (p.Pro220Arg) c.491C>G (p.Pro164Arg) c.365C>G (p.Pro122Arg) n.1957C>G | |
12 | g.32611201C>T | CA6506853 | FGD4 | c.1256C>T (p.Pro419Leu) c.1511C>T (p.Pro504Leu) c.977C>T (p.Pro326Leu) c.68C>T (p.Pro23Leu) n.763C>T c.1667C>T (p.Pro556Leu) c.*648C>T (n.*648C>T) c.*667C>T (n.*667C>T) c.845C>T c.1592C>T (p.Pro531Leu) c.*625C>T (n.*625C>T) c.512C>T (p.Pro171Leu) c.224C>T (p.Pro75Leu) c.1748C>T (p.Pro583Leu) c.1550C>T (p.Pro517Leu) c.704C>T (p.Pro235Leu) c.659C>T (p.Pro220Leu) c.491C>T (p.Pro164Leu) c.365C>T (p.Pro122Leu) n.1957C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611202T>A | CA479167848 | FGD4 | c.1257T>A (p.Pro419=) c.1512T>A (p.Pro504=) c.978T>A (p.Pro326=) c.69T>A (p.Pro23=) n.764T>A c.1668T>A (p.Pro556=) c.*649T>A (n.*649T>A) c.*668T>A (n.*668T>A) c.846T>A c.1593T>A (p.Pro531=) c.*626T>A (n.*626T>A) c.513T>A (p.Pro171=) c.225T>A (p.Pro75=) c.1749T>A (p.Pro583=) c.1551T>A (p.Pro517=) c.705T>A (p.Pro235=) c.660T>A (p.Pro220=) c.492T>A (p.Pro164=) c.366T>A (p.Pro122=) n.1958T>A | |
12 | g.32611202T>C | CA479167849 | FGD4 | c.1257T>C (p.Pro419=) c.1512T>C (p.Pro504=) c.978T>C (p.Pro326=) c.69T>C (p.Pro23=) n.764T>C c.1668T>C (p.Pro556=) c.*649T>C (n.*649T>C) c.*668T>C (n.*668T>C) c.846T>C c.1593T>C (p.Pro531=) c.*626T>C (n.*626T>C) c.513T>C (p.Pro171=) c.225T>C (p.Pro75=) c.1749T>C (p.Pro583=) c.1551T>C (p.Pro517=) c.705T>C (p.Pro235=) c.660T>C (p.Pro220=) c.492T>C (p.Pro164=) c.366T>C (p.Pro122=) n.1958T>C | |
12 | g.32611202T>G | CA479167851 | FGD4 | c.1257T>G (p.Pro419=) c.1512T>G (p.Pro504=) c.978T>G (p.Pro326=) c.69T>G (p.Pro23=) n.764T>G c.1668T>G (p.Pro556=) c.*649T>G (n.*649T>G) c.*668T>G (n.*668T>G) c.846T>G c.1593T>G (p.Pro531=) c.*626T>G (n.*626T>G) c.513T>G (p.Pro171=) c.225T>G (p.Pro75=) c.1749T>G (p.Pro583=) c.1551T>G (p.Pro517=) c.705T>G (p.Pro235=) c.660T>G (p.Pro220=) c.492T>G (p.Pro164=) c.366T>G (p.Pro122=) n.1958T>G | |
12 | g.32611203T>A | CA6506854 | FGD4 | c.1258T>A (p.Ser420Thr) c.1513T>A (p.Ser505Thr) c.979T>A (p.Ser327Thr) c.70T>A (p.Ser24Thr) n.765T>A c.1669T>A (p.Ser557Thr) c.*650T>A (n.*650T>A) c.*669T>A (n.*669T>A) c.847T>A c.1594T>A (p.Ser532Thr) c.*627T>A (n.*627T>A) c.514T>A (p.Ser172Thr) c.226T>A (p.Ser76Thr) c.1750T>A (p.Ser584Thr) c.1552T>A (p.Ser518Thr) c.706T>A (p.Ser236Thr) c.661T>A (p.Ser221Thr) c.493T>A (p.Ser165Thr) c.367T>A (p.Ser123Thr) n.1959T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611203T>C | CA384361087 | FGD4 | c.1258T>C (p.Ser420Pro) c.1513T>C (p.Ser505Pro) c.979T>C (p.Ser327Pro) c.70T>C (p.Ser24Pro) n.765T>C c.1669T>C (p.Ser557Pro) c.*650T>C (n.*650T>C) c.*669T>C (n.*669T>C) c.847T>C c.1594T>C (p.Ser532Pro) c.*627T>C (n.*627T>C) c.514T>C (p.Ser172Pro) c.226T>C (p.Ser76Pro) c.1750T>C (p.Ser584Pro) c.1552T>C (p.Ser518Pro) c.706T>C (p.Ser236Pro) c.661T>C (p.Ser221Pro) c.493T>C (p.Ser165Pro) c.367T>C (p.Ser123Pro) n.1959T>C | |
12 | g.32611203T>G | CA384361086 | FGD4 | c.1258T>G (p.Ser420Ala) c.1513T>G (p.Ser505Ala) c.979T>G (p.Ser327Ala) c.70T>G (p.Ser24Ala) n.765T>G c.1669T>G (p.Ser557Ala) c.*650T>G (n.*650T>G) c.*669T>G (n.*669T>G) c.847T>G c.1594T>G (p.Ser532Ala) c.*627T>G (n.*627T>G) c.514T>G (p.Ser172Ala) c.226T>G (p.Ser76Ala) c.1750T>G (p.Ser584Ala) c.1552T>G (p.Ser518Ala) c.706T>G (p.Ser236Ala) c.661T>G (p.Ser221Ala) c.493T>G (p.Ser165Ala) c.367T>G (p.Ser123Ala) n.1959T>G | gnomAD v4 |
12 | g.32611203T= | CA2026267795 | FGD4 | c.1258T= (p.Ser420=) c.1513T= (p.Ser505=) c.979T= (p.Ser327=) c.70T= (p.Ser24=) n.765T= c.1669T= (p.Ser557=) c.*650T= (n.*650T=) c.*669T= (n.*669T=) c.847T= c.1594T= (p.Ser532=) c.*627T= (n.*627T=) c.514T= (p.Ser172=) c.226T= (p.Ser76=) c.1750T= (p.Ser584=) c.1552T= (p.Ser518=) c.706T= (p.Ser236=) c.661T= (p.Ser221=) c.493T= (p.Ser165=) c.367T= (p.Ser123=) n.1959T= | |
12 | g.32611204C>A | CA384361088 | FGD4 | c.1259C>A (p.Ser420Ter) c.1514C>A (p.Ser505Ter) c.980C>A (p.Ser327Ter) c.71C>A (p.Ser24Ter) n.766C>A c.1670C>A (p.Ser557Ter) c.*651C>A (n.*651C>A) c.*670C>A (n.*670C>A) c.848C>A c.1595C>A (p.Ser532Ter) c.*628C>A (n.*628C>A) c.515C>A (p.Ser172Ter) c.227C>A (p.Ser76Ter) c.1751C>A (p.Ser584Ter) c.1553C>A (p.Ser518Ter) c.707C>A (p.Ser236Ter) c.662C>A (p.Ser221Ter) c.494C>A (p.Ser165Ter) c.368C>A (p.Ser123Ter) n.1960C>A | gnomAD v4 |
12 | g.32611204C= | CA2026267796 | FGD4 | c.1259C= (p.Ser420=) c.1514C= (p.Ser505=) c.980C= (p.Ser327=) c.71C= (p.Ser24=) n.766C= c.1670C= (p.Ser557=) c.*651C= (n.*651C=) c.*670C= (n.*670C=) c.848C= c.1595C= (p.Ser532=) c.*628C= (n.*628C=) c.515C= (p.Ser172=) c.227C= (p.Ser76=) c.1751C= (p.Ser584=) c.1553C= (p.Ser518=) c.707C= (p.Ser236=) c.662C= (p.Ser221=) c.494C= (p.Ser165=) c.368C= (p.Ser123=) n.1960C= | |
12 | g.32611204C>G | CA384361089 | FGD4 | c.1259C>G (p.Ser420Ter) c.1514C>G (p.Ser505Ter) c.980C>G (p.Ser327Ter) c.71C>G (p.Ser24Ter) n.766C>G c.1670C>G (p.Ser557Ter) c.*651C>G (n.*651C>G) c.*670C>G (n.*670C>G) c.848C>G c.1595C>G (p.Ser532Ter) c.*628C>G (n.*628C>G) c.515C>G (p.Ser172Ter) c.227C>G (p.Ser76Ter) c.1751C>G (p.Ser584Ter) c.1553C>G (p.Ser518Ter) c.707C>G (p.Ser236Ter) c.662C>G (p.Ser221Ter) c.494C>G (p.Ser165Ter) c.368C>G (p.Ser123Ter) n.1960C>G | |
12 | g.32611204C>T | CA384361090 | FGD4 | c.1259C>T (p.Ser420Leu) c.1514C>T (p.Ser505Leu) c.980C>T (p.Ser327Leu) c.71C>T (p.Ser24Leu) n.766C>T c.1670C>T (p.Ser557Leu) c.*651C>T (n.*651C>T) c.*670C>T (n.*670C>T) c.848C>T c.1595C>T (p.Ser532Leu) c.*628C>T (n.*628C>T) c.515C>T (p.Ser172Leu) c.227C>T (p.Ser76Leu) c.1751C>T (p.Ser584Leu) c.1553C>T (p.Ser518Leu) c.707C>T (p.Ser236Leu) c.662C>T (p.Ser221Leu) c.494C>T (p.Ser165Leu) c.368C>T (p.Ser123Leu) n.1960C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611205A>C | CA479167855 | FGD4 | c.1260A>C (p.Ser420=) c.1515A>C (p.Ser505=) c.981A>C (p.Ser327=) c.72A>C (p.Ser24=) n.767A>C c.1671A>C (p.Ser557=) c.*652A>C (n.*652A>C) c.*671A>C (n.*671A>C) c.849A>C c.1596A>C (p.Ser532=) c.*629A>C (n.*629A>C) c.516A>C (p.Ser172=) c.228A>C (p.Ser76=) c.1752A>C (p.Ser584=) c.1554A>C (p.Ser518=) c.708A>C (p.Ser236=) c.663A>C (p.Ser221=) c.495A>C (p.Ser165=) c.369A>C (p.Ser123=) n.1961A>C | |
12 | g.32611205A>G | CA479167856 | FGD4 | c.1260A>G (p.Ser420=) c.1515A>G (p.Ser505=) c.981A>G (p.Ser327=) c.72A>G (p.Ser24=) n.767A>G c.1671A>G (p.Ser557=) c.*652A>G (n.*652A>G) c.*671A>G (n.*671A>G) c.849A>G c.1596A>G (p.Ser532=) c.*629A>G (n.*629A>G) c.516A>G (p.Ser172=) c.228A>G (p.Ser76=) c.1752A>G (p.Ser584=) c.1554A>G (p.Ser518=) c.708A>G (p.Ser236=) c.663A>G (p.Ser221=) c.495A>G (p.Ser165=) c.369A>G (p.Ser123=) n.1961A>G | |
12 | g.32611205A>T | CA479167857 | FGD4 | c.1260A>T (p.Ser420=) c.1515A>T (p.Ser505=) c.981A>T (p.Ser327=) c.72A>T (p.Ser24=) n.767A>T c.1671A>T (p.Ser557=) c.*652A>T (n.*652A>T) c.*671A>T (n.*671A>T) c.849A>T c.1596A>T (p.Ser532=) c.*629A>T (n.*629A>T) c.516A>T (p.Ser172=) c.228A>T (p.Ser76=) c.1752A>T (p.Ser584=) c.1554A>T (p.Ser518=) c.708A>T (p.Ser236=) c.663A>T (p.Ser221=) c.495A>T (p.Ser165=) c.369A>T (p.Ser123=) n.1961A>T | |
12 | g.32611207dup | CA6506855 | FGD4 | c.1262dup (p.Asn421LysfsTer2) c.1517dup (p.Asn506LysfsTer2) c.983dup (p.Asn328LysfsTer2) c.74dup (p.Asn25LysfsTer2) n.769dup c.1673dup (p.Asn558LysfsTer2) c.*654dup (n.*654dup) c.*673dup (n.*673dup) c.851dup c.1598dup (p.Asn533LysfsTer2) c.*631dup (n.*631dup) c.518dup (p.Asn173LysfsTer2) c.230dup (p.Asn77LysfsTer2) c.1754dup (p.Asn585LysfsTer2) c.1556dup (p.Asn519LysfsTer2) c.710dup (p.Asn237LysfsTer2) c.665dup (p.Asn222LysfsTer2) c.497dup (p.Asn166LysfsTer2) c.371dup (p.Asn124LysfsTer2) n.1963dup | dbSNP ExAC gnomAD v2 |
12 | g.32611206A= | CA2026267797 | FGD4 | c.1261A= (p.Asn421=) c.1516A= (p.Asn506=) c.982A= (p.Asn328=) c.73A= (p.Asn25=) n.768A= c.1672A= (p.Asn558=) c.*653A= (n.*653A=) c.*672A= (n.*672A=) c.850A= c.1597A= (p.Asn533=) c.*630A= (n.*630A=) c.517A= (p.Asn173=) c.229A= (p.Asn77=) c.1753A= (p.Asn585=) c.1555A= (p.Asn519=) c.709A= (p.Asn237=) c.664A= (p.Asn222=) c.496A= (p.Asn166=) c.370A= (p.Asn124=) n.1962A= | |
12 | g.32611206A>C | CA384361091 | FGD4 | c.1261A>C (p.Asn421His) c.1516A>C (p.Asn506His) c.982A>C (p.Asn328His) c.73A>C (p.Asn25His) n.768A>C c.1672A>C (p.Asn558His) c.*653A>C (n.*653A>C) c.*672A>C (n.*672A>C) c.850A>C c.1597A>C (p.Asn533His) c.*630A>C (n.*630A>C) c.517A>C (p.Asn173His) c.229A>C (p.Asn77His) c.1753A>C (p.Asn585His) c.1555A>C (p.Asn519His) c.709A>C (p.Asn237His) c.664A>C (p.Asn222His) c.496A>C (p.Asn166His) c.370A>C (p.Asn124His) n.1962A>C | |
12 | g.32611206A>G | CA384361092 | FGD4 | c.1261A>G (p.Asn421Asp) c.1516A>G (p.Asn506Asp) c.982A>G (p.Asn328Asp) c.73A>G (p.Asn25Asp) n.768A>G c.1672A>G (p.Asn558Asp) c.*653A>G (n.*653A>G) c.*672A>G (n.*672A>G) c.850A>G c.1597A>G (p.Asn533Asp) c.*630A>G (n.*630A>G) c.517A>G (p.Asn173Asp) c.229A>G (p.Asn77Asp) c.1753A>G (p.Asn585Asp) c.1555A>G (p.Asn519Asp) c.709A>G (p.Asn237Asp) c.664A>G (p.Asn222Asp) c.496A>G (p.Asn166Asp) c.370A>G (p.Asn124Asp) n.1962A>G | dbSNP |
12 | g.32611206A>T | CA384361093 | FGD4 | c.1261A>T (p.Asn421Tyr) c.1516A>T (p.Asn506Tyr) c.982A>T (p.Asn328Tyr) c.73A>T (p.Asn25Tyr) n.768A>T c.1672A>T (p.Asn558Tyr) c.*653A>T (n.*653A>T) c.*672A>T (n.*672A>T) c.850A>T c.1597A>T (p.Asn533Tyr) c.*630A>T (n.*630A>T) c.517A>T (p.Asn173Tyr) c.229A>T (p.Asn77Tyr) c.1753A>T (p.Asn585Tyr) c.1555A>T (p.Asn519Tyr) c.709A>T (p.Asn237Tyr) c.664A>T (p.Asn222Tyr) c.496A>T (p.Asn166Tyr) c.370A>T (p.Asn124Tyr) n.1962A>T | |
12 | g.32611207A>C | CA384361094 | FGD4 | c.1262A>C (p.Asn421Thr) c.1517A>C (p.Asn506Thr) c.983A>C (p.Asn328Thr) c.74A>C (p.Asn25Thr) n.769A>C c.1673A>C (p.Asn558Thr) c.*654A>C (n.*654A>C) c.*673A>C (n.*673A>C) c.851A>C c.1598A>C (p.Asn533Thr) c.*631A>C (n.*631A>C) c.518A>C (p.Asn173Thr) c.230A>C (p.Asn77Thr) c.1754A>C (p.Asn585Thr) c.1556A>C (p.Asn519Thr) c.710A>C (p.Asn237Thr) c.665A>C (p.Asn222Thr) c.497A>C (p.Asn166Thr) c.371A>C (p.Asn124Thr) n.1963A>C | |
12 | g.32611207A>G | CA384361095 | FGD4 | c.1262A>G (p.Asn421Ser) c.1517A>G (p.Asn506Ser) c.983A>G (p.Asn328Ser) c.74A>G (p.Asn25Ser) n.769A>G c.1673A>G (p.Asn558Ser) c.*654A>G (n.*654A>G) c.*673A>G (n.*673A>G) c.851A>G c.1598A>G (p.Asn533Ser) c.*631A>G (n.*631A>G) c.518A>G (p.Asn173Ser) c.230A>G (p.Asn77Ser) c.1754A>G (p.Asn585Ser) c.1556A>G (p.Asn519Ser) c.710A>G (p.Asn237Ser) c.665A>G (p.Asn222Ser) c.497A>G (p.Asn166Ser) c.371A>G (p.Asn124Ser) n.1963A>G | COSMIC COSMIC COSMIC |
12 | g.32611207A>T | CA384361096 | FGD4 | c.1262A>T (p.Asn421Ile) c.1517A>T (p.Asn506Ile) c.983A>T (p.Asn328Ile) c.74A>T (p.Asn25Ile) n.769A>T c.1673A>T (p.Asn558Ile) c.*654A>T (n.*654A>T) c.*673A>T (n.*673A>T) c.851A>T c.1598A>T (p.Asn533Ile) c.*631A>T (n.*631A>T) c.518A>T (p.Asn173Ile) c.230A>T (p.Asn77Ile) c.1754A>T (p.Asn585Ile) c.1556A>T (p.Asn519Ile) c.710A>T (p.Asn237Ile) c.665A>T (p.Asn222Ile) c.497A>T (p.Asn166Ile) c.371A>T (p.Asn124Ile) n.1963A>T | |
12 | g.32611208T>A | CA384361097 | FGD4 | c.1263T>A (p.Asn421Lys) c.1518T>A (p.Asn506Lys) c.984T>A (p.Asn328Lys) c.75T>A (p.Asn25Lys) n.770T>A c.1674T>A (p.Asn558Lys) c.*655T>A (n.*655T>A) c.*674T>A (n.*674T>A) c.852T>A c.1599T>A (p.Asn533Lys) c.*632T>A (n.*632T>A) c.519T>A (p.Asn173Lys) c.231T>A (p.Asn77Lys) c.1755T>A (p.Asn585Lys) c.1557T>A (p.Asn519Lys) c.711T>A (p.Asn237Lys) c.666T>A (p.Asn222Lys) c.498T>A (p.Asn166Lys) c.372T>A (p.Asn124Lys) n.1964T>A | |
12 | g.32611208T>C | CA479167858 | FGD4 | c.1263T>C (p.Asn421=) c.1518T>C (p.Asn506=) c.984T>C (p.Asn328=) c.75T>C (p.Asn25=) n.770T>C c.1674T>C (p.Asn558=) c.*655T>C (n.*655T>C) c.*674T>C (n.*674T>C) c.852T>C c.1599T>C (p.Asn533=) c.*632T>C (n.*632T>C) c.519T>C (p.Asn173=) c.231T>C (p.Asn77=) c.1755T>C (p.Asn585=) c.1557T>C (p.Asn519=) c.711T>C (p.Asn237=) c.666T>C (p.Asn222=) c.498T>C (p.Asn166=) c.372T>C (p.Asn124=) n.1964T>C | |
12 | g.32611208T>G | CA384361098 | FGD4 | c.1263T>G (p.Asn421Lys) c.1518T>G (p.Asn506Lys) c.984T>G (p.Asn328Lys) c.75T>G (p.Asn25Lys) n.770T>G c.1674T>G (p.Asn558Lys) c.*655T>G (n.*655T>G) c.*674T>G (n.*674T>G) c.852T>G c.1599T>G (p.Asn533Lys) c.*632T>G (n.*632T>G) c.519T>G (p.Asn173Lys) c.231T>G (p.Asn77Lys) c.1755T>G (p.Asn585Lys) c.1557T>G (p.Asn519Lys) c.711T>G (p.Asn237Lys) c.666T>G (p.Asn222Lys) c.498T>G (p.Asn166Lys) c.372T>G (p.Asn124Lys) n.1964T>G | gnomAD v4 |
12 | g.32611209G>A | CA384361101 | FGD4 | c.1264G>A (p.Glu422Lys) c.1519G>A (p.Glu507Lys) c.985G>A (p.Glu329Lys) c.76G>A (p.Glu26Lys) n.771G>A c.1675G>A (p.Glu559Lys) c.*656G>A (n.*656G>A) c.*675G>A (n.*675G>A) c.853G>A c.1600G>A (p.Glu534Lys) c.*633G>A (n.*633G>A) c.520G>A (p.Glu174Lys) c.232G>A (p.Glu78Lys) c.1756G>A (p.Glu586Lys) c.1558G>A (p.Glu520Lys) c.712G>A (p.Glu238Lys) c.667G>A (p.Glu223Lys) c.499G>A (p.Glu167Lys) c.373G>A (p.Glu125Lys) n.1965G>A | |
12 | g.32611209G>C | CA384361100 | FGD4 | c.1264G>C (p.Glu422Gln) c.1519G>C (p.Glu507Gln) c.985G>C (p.Glu329Gln) c.76G>C (p.Glu26Gln) n.771G>C c.1675G>C (p.Glu559Gln) c.*656G>C (n.*656G>C) c.*675G>C (n.*675G>C) c.853G>C c.1600G>C (p.Glu534Gln) c.*633G>C (n.*633G>C) c.520G>C (p.Glu174Gln) c.232G>C (p.Glu78Gln) c.1756G>C (p.Glu586Gln) c.1558G>C (p.Glu520Gln) c.712G>C (p.Glu238Gln) c.667G>C (p.Glu223Gln) c.499G>C (p.Glu167Gln) c.373G>C (p.Glu125Gln) n.1965G>C | |
12 | g.32611209G>T | CA384361099 | FGD4 | c.1264G>T (p.Glu422Ter) c.1519G>T (p.Glu507Ter) c.985G>T (p.Glu329Ter) c.76G>T (p.Glu26Ter) n.771G>T c.1675G>T (p.Glu559Ter) c.*656G>T (n.*656G>T) c.*675G>T (n.*675G>T) c.853G>T c.1600G>T (p.Glu534Ter) c.*633G>T (n.*633G>T) c.520G>T (p.Glu174Ter) c.232G>T (p.Glu78Ter) c.1756G>T (p.Glu586Ter) c.1558G>T (p.Glu520Ter) c.712G>T (p.Glu238Ter) c.667G>T (p.Glu223Ter) c.499G>T (p.Glu167Ter) c.373G>T (p.Glu125Ter) n.1965G>T | |
12 | g.32611210A>C | CA384361102 | FGD4 | c.1265A>C (p.Glu422Ala) c.1520A>C (p.Glu507Ala) c.986A>C (p.Glu329Ala) c.77A>C (p.Glu26Ala) n.772A>C c.1676A>C (p.Glu559Ala) c.*657A>C (n.*657A>C) c.*676A>C (n.*676A>C) c.854A>C c.1601A>C (p.Glu534Ala) c.*634A>C (n.*634A>C) c.521A>C (p.Glu174Ala) c.233A>C (p.Glu78Ala) c.1757A>C (p.Glu586Ala) c.1559A>C (p.Glu520Ala) c.713A>C (p.Glu238Ala) c.668A>C (p.Glu223Ala) c.500A>C (p.Glu167Ala) c.374A>C (p.Glu125Ala) n.1966A>C | |
12 | g.32611210A>G | CA384361103 | FGD4 | c.1265A>G (p.Glu422Gly) c.1520A>G (p.Glu507Gly) c.986A>G (p.Glu329Gly) c.77A>G (p.Glu26Gly) n.772A>G c.1676A>G (p.Glu559Gly) c.*657A>G (n.*657A>G) c.*676A>G (n.*676A>G) c.854A>G c.1601A>G (p.Glu534Gly) c.*634A>G (n.*634A>G) c.521A>G (p.Glu174Gly) c.233A>G (p.Glu78Gly) c.1757A>G (p.Glu586Gly) c.1559A>G (p.Glu520Gly) c.713A>G (p.Glu238Gly) c.668A>G (p.Glu223Gly) c.500A>G (p.Glu167Gly) c.374A>G (p.Glu125Gly) n.1966A>G | |
12 | g.32611210A>T | CA384361104 | FGD4 | c.1265A>T (p.Glu422Val) c.1520A>T (p.Glu507Val) c.986A>T (p.Glu329Val) c.77A>T (p.Glu26Val) n.772A>T c.1676A>T (p.Glu559Val) c.*657A>T (n.*657A>T) c.*676A>T (n.*676A>T) c.854A>T c.1601A>T (p.Glu534Val) c.*634A>T (n.*634A>T) c.521A>T (p.Glu174Val) c.233A>T (p.Glu78Val) c.1757A>T (p.Glu586Val) c.1559A>T (p.Glu520Val) c.713A>T (p.Glu238Val) c.668A>T (p.Glu223Val) c.500A>T (p.Glu167Val) c.374A>T (p.Glu125Val) n.1966A>T | |
12 | g.32611211A= | CA2026267798 | FGD4 | c.1266A= (p.Glu422=) c.1521A= (p.Glu507=) c.987A= (p.Glu329=) c.78A= (p.Glu26=) n.773A= c.1677A= (p.Glu559=) c.*658A= (n.*658A=) c.*677A= (n.*677A=) c.855A= c.1602A= (p.Glu534=) c.*635A= (n.*635A=) c.522A= (p.Glu174=) c.234A= (p.Glu78=) c.1758A= (p.Glu586=) c.1560A= (p.Glu520=) c.714A= (p.Glu238=) c.669A= (p.Glu223=) c.501A= (p.Glu167=) c.375A= (p.Glu125=) n.1967A= | |
12 | g.32611211A>C | CA384361105 | FGD4 | c.1266A>C (p.Glu422Asp) c.1521A>C (p.Glu507Asp) c.987A>C (p.Glu329Asp) c.78A>C (p.Glu26Asp) n.773A>C c.1677A>C (p.Glu559Asp) c.*658A>C (n.*658A>C) c.*677A>C (n.*677A>C) c.855A>C c.1602A>C (p.Glu534Asp) c.*635A>C (n.*635A>C) c.522A>C (p.Glu174Asp) c.234A>C (p.Glu78Asp) c.1758A>C (p.Glu586Asp) c.1560A>C (p.Glu520Asp) c.714A>C (p.Glu238Asp) c.669A>C (p.Glu223Asp) c.501A>C (p.Glu167Asp) c.375A>C (p.Glu125Asp) n.1967A>C | |
12 | g.32611211A>G | CA479167860 | FGD4 | c.1266A>G (p.Glu422=) c.1521A>G (p.Glu507=) c.987A>G (p.Glu329=) c.78A>G (p.Glu26=) n.773A>G c.1677A>G (p.Glu559=) c.*658A>G (n.*658A>G) c.*677A>G (n.*677A>G) c.855A>G c.1602A>G (p.Glu534=) c.*635A>G (n.*635A>G) c.522A>G (p.Glu174=) c.234A>G (p.Glu78=) c.1758A>G (p.Glu586=) c.1560A>G (p.Glu520=) c.714A>G (p.Glu238=) c.669A>G (p.Glu223=) c.501A>G (p.Glu167=) c.375A>G (p.Glu125=) n.1967A>G | dbSNP gnomAD v4 |
12 | g.32611211A>T | CA384361106 | FGD4 | c.1266A>T (p.Glu422Asp) c.1521A>T (p.Glu507Asp) c.987A>T (p.Glu329Asp) c.78A>T (p.Glu26Asp) n.773A>T c.1677A>T (p.Glu559Asp) c.*658A>T (n.*658A>T) c.*677A>T (n.*677A>T) c.855A>T c.1602A>T (p.Glu534Asp) c.*635A>T (n.*635A>T) c.522A>T (p.Glu174Asp) c.234A>T (p.Glu78Asp) c.1758A>T (p.Glu586Asp) c.1560A>T (p.Glu520Asp) c.714A>T (p.Glu238Asp) c.669A>T (p.Glu223Asp) c.501A>T (p.Glu167Asp) c.375A>T (p.Glu125Asp) n.1967A>T | |
12 | g.32611212C>A | CA384361107 | FGD4 | c.1267C>A (p.Leu423Ile) c.1522C>A (p.Leu508Ile) c.988C>A (p.Leu330Ile) c.79C>A (p.Leu27Ile) n.774C>A c.1678C>A (p.Leu560Ile) c.*659C>A (n.*659C>A) c.*678C>A (n.*678C>A) c.856C>A c.1603C>A (p.Leu535Ile) c.*636C>A (n.*636C>A) c.523C>A (p.Leu175Ile) c.235C>A (p.Leu79Ile) c.1759C>A (p.Leu587Ile) c.1561C>A (p.Leu521Ile) c.715C>A (p.Leu239Ile) c.670C>A (p.Leu224Ile) c.502C>A (p.Leu168Ile) c.376C>A (p.Leu126Ile) n.1968C>A | |
12 | g.32611212C= | CA2026267799 | FGD4 | c.1267C= (p.Leu423=) c.1522C= (p.Leu508=) c.988C= (p.Leu330=) c.79C= (p.Leu27=) n.774C= c.1678C= (p.Leu560=) c.*659C= (n.*659C=) c.*678C= (n.*678C=) c.856C= c.1603C= (p.Leu535=) c.*636C= (n.*636C=) c.523C= (p.Leu175=) c.235C= (p.Leu79=) c.1759C= (p.Leu587=) c.1561C= (p.Leu521=) c.715C= (p.Leu239=) c.670C= (p.Leu224=) c.502C= (p.Leu168=) c.376C= (p.Leu126=) n.1968C= | |
12 | g.32611212C>G | CA384361108 | FGD4 | c.1267C>G (p.Leu423Val) c.1522C>G (p.Leu508Val) c.988C>G (p.Leu330Val) c.79C>G (p.Leu27Val) n.774C>G c.1678C>G (p.Leu560Val) c.*659C>G (n.*659C>G) c.*678C>G (n.*678C>G) c.856C>G c.1603C>G (p.Leu535Val) c.*636C>G (n.*636C>G) c.523C>G (p.Leu175Val) c.235C>G (p.Leu79Val) c.1759C>G (p.Leu587Val) c.1561C>G (p.Leu521Val) c.715C>G (p.Leu239Val) c.670C>G (p.Leu224Val) c.502C>G (p.Leu168Val) c.376C>G (p.Leu126Val) n.1968C>G | dbSNP |
12 | g.32611212C>T | CA479167861 | FGD4 | c.1267C>T (p.Leu423=) c.1522C>T (p.Leu508=) c.988C>T (p.Leu330=) c.79C>T (p.Leu27=) n.774C>T c.1678C>T (p.Leu560=) c.*659C>T (n.*659C>T) c.*678C>T (n.*678C>T) c.856C>T c.1603C>T (p.Leu535=) c.*636C>T (n.*636C>T) c.523C>T (p.Leu175=) c.235C>T (p.Leu79=) c.1759C>T (p.Leu587=) c.1561C>T (p.Leu521=) c.715C>T (p.Leu239=) c.670C>T (p.Leu224=) c.502C>T (p.Leu168=) c.376C>T (p.Leu126=) n.1968C>T | |
12 | g.32611213T>A | CA384361109 | FGD4 | c.1268T>A (p.Leu423Gln) c.1523T>A (p.Leu508Gln) c.989T>A (p.Leu330Gln) c.80T>A (p.Leu27Gln) n.775T>A c.1679T>A (p.Leu560Gln) c.*660T>A (n.*660T>A) c.*679T>A (n.*679T>A) c.857T>A c.1604T>A (p.Leu535Gln) c.*637T>A (n.*637T>A) c.524T>A (p.Leu175Gln) c.236T>A (p.Leu79Gln) c.1760T>A (p.Leu587Gln) c.1562T>A (p.Leu521Gln) c.716T>A (p.Leu239Gln) c.671T>A (p.Leu224Gln) c.503T>A (p.Leu168Gln) c.377T>A (p.Leu126Gln) n.1969T>A | |
12 | g.32611213T>C | CA384361110 | FGD4 | c.1268T>C (p.Leu423Pro) c.1523T>C (p.Leu508Pro) c.989T>C (p.Leu330Pro) c.80T>C (p.Leu27Pro) n.775T>C c.1679T>C (p.Leu560Pro) c.*660T>C (n.*660T>C) c.*679T>C (n.*679T>C) c.857T>C c.1604T>C (p.Leu535Pro) c.*637T>C (n.*637T>C) c.524T>C (p.Leu175Pro) c.236T>C (p.Leu79Pro) c.1760T>C (p.Leu587Pro) c.1562T>C (p.Leu521Pro) c.716T>C (p.Leu239Pro) c.671T>C (p.Leu224Pro) c.503T>C (p.Leu168Pro) c.377T>C (p.Leu126Pro) n.1969T>C | |
12 | g.32611213T>G | CA384361111 | FGD4 | c.1268T>G (p.Leu423Arg) c.1523T>G (p.Leu508Arg) c.989T>G (p.Leu330Arg) c.80T>G (p.Leu27Arg) n.775T>G c.1679T>G (p.Leu560Arg) c.*660T>G (n.*660T>G) c.*679T>G (n.*679T>G) c.857T>G c.1604T>G (p.Leu535Arg) c.*637T>G (n.*637T>G) c.524T>G (p.Leu175Arg) c.236T>G (p.Leu79Arg) c.1760T>G (p.Leu587Arg) c.1562T>G (p.Leu521Arg) c.716T>G (p.Leu239Arg) c.671T>G (p.Leu224Arg) c.503T>G (p.Leu168Arg) c.377T>G (p.Leu126Arg) n.1969T>G | |
12 | g.32611214A>C | CA479167862 | FGD4 | c.1269A>C (p.Leu423=) c.1524A>C (p.Leu508=) c.990A>C (p.Leu330=) c.81A>C (p.Leu27=) n.776A>C c.1680A>C (p.Leu560=) c.*661A>C (n.*661A>C) c.*680A>C (n.*680A>C) c.858A>C c.1605A>C (p.Leu535=) c.*638A>C (n.*638A>C) c.525A>C (p.Leu175=) c.237A>C (p.Leu79=) c.1761A>C (p.Leu587=) c.1563A>C (p.Leu521=) c.717A>C (p.Leu239=) c.672A>C (p.Leu224=) c.504A>C (p.Leu168=) c.378A>C (p.Leu126=) n.1970A>C | |
12 | g.32611214A>G | CA479167863 | FGD4 | c.1269A>G (p.Leu423=) c.1524A>G (p.Leu508=) c.990A>G (p.Leu330=) c.81A>G (p.Leu27=) n.776A>G c.1680A>G (p.Leu560=) c.*661A>G (n.*661A>G) c.*680A>G (n.*680A>G) c.858A>G c.1605A>G (p.Leu535=) c.*638A>G (n.*638A>G) c.525A>G (p.Leu175=) c.237A>G (p.Leu79=) c.1761A>G (p.Leu587=) c.1563A>G (p.Leu521=) c.717A>G (p.Leu239=) c.672A>G (p.Leu224=) c.504A>G (p.Leu168=) c.378A>G (p.Leu126=) n.1970A>G | |
12 | g.32611214A>T | CA479167864 | FGD4 | c.1269A>T (p.Leu423=) c.1524A>T (p.Leu508=) c.990A>T (p.Leu330=) c.81A>T (p.Leu27=) n.776A>T c.1680A>T (p.Leu560=) c.*661A>T (n.*661A>T) c.*680A>T (n.*680A>T) c.858A>T c.1605A>T (p.Leu535=) c.*638A>T (n.*638A>T) c.525A>T (p.Leu175=) c.237A>T (p.Leu79=) c.1761A>T (p.Leu587=) c.1563A>T (p.Leu521=) c.717A>T (p.Leu239=) c.672A>T (p.Leu224=) c.504A>T (p.Leu168=) c.378A>T (p.Leu126=) n.1970A>T | |
12 | g.32611215A= | CA2026267800 | FGD4 | c.1270A= (p.Ile424=) c.1525A= (p.Ile509=) c.991A= (p.Ile331=) c.82A= (p.Ile28=) n.777A= c.1681A= (p.Ile561=) c.*662A= (n.*662A=) c.*681A= (n.*681A=) c.859A= c.1606A= (p.Ile536=) c.*639A= (n.*639A=) c.526A= (p.Ile176=) c.238A= (p.Ile80=) c.1762A= (p.Ile588=) c.1564A= (p.Ile522=) c.718A= (p.Ile240=) c.673A= (p.Ile225=) c.505A= (p.Ile169=) c.379A= (p.Ile127=) n.1971A= | |
12 | g.32611215A>C | CA384361112 | FGD4 | c.1270A>C (p.Ile424Leu) c.1525A>C (p.Ile509Leu) c.991A>C (p.Ile331Leu) c.82A>C (p.Ile28Leu) n.777A>C c.1681A>C (p.Ile561Leu) c.*662A>C (n.*662A>C) c.*681A>C (n.*681A>C) c.859A>C c.1606A>C (p.Ile536Leu) c.*639A>C (n.*639A>C) c.526A>C (p.Ile176Leu) c.238A>C (p.Ile80Leu) c.1762A>C (p.Ile588Leu) c.1564A>C (p.Ile522Leu) c.718A>C (p.Ile240Leu) c.673A>C (p.Ile225Leu) c.505A>C (p.Ile169Leu) c.379A>C (p.Ile127Leu) n.1971A>C | |
12 | g.32611215A>G | CA384361113 | FGD4 | c.1270A>G (p.Ile424Val) c.1525A>G (p.Ile509Val) c.991A>G (p.Ile331Val) c.82A>G (p.Ile28Val) n.777A>G c.1681A>G (p.Ile561Val) c.*662A>G (n.*662A>G) c.*681A>G (n.*681A>G) c.859A>G c.1606A>G (p.Ile536Val) c.*639A>G (n.*639A>G) c.526A>G (p.Ile176Val) c.238A>G (p.Ile80Val) c.1762A>G (p.Ile588Val) c.1564A>G (p.Ile522Val) c.718A>G (p.Ile240Val) c.673A>G (p.Ile225Val) c.505A>G (p.Ile169Val) c.379A>G (p.Ile127Val) n.1971A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.32611215A>T | CA384361114 | FGD4 | c.1270A>T (p.Ile424Leu) c.1525A>T (p.Ile509Leu) c.991A>T (p.Ile331Leu) c.82A>T (p.Ile28Leu) n.777A>T c.1681A>T (p.Ile561Leu) c.*662A>T (n.*662A>T) c.*681A>T (n.*681A>T) c.859A>T c.1606A>T (p.Ile536Leu) c.*639A>T (n.*639A>T) c.526A>T (p.Ile176Leu) c.238A>T (p.Ile80Leu) c.1762A>T (p.Ile588Leu) c.1564A>T (p.Ile522Leu) c.718A>T (p.Ile240Leu) c.673A>T (p.Ile225Leu) c.505A>T (p.Ile169Leu) c.379A>T (p.Ile127Leu) n.1971A>T | |
12 | g.32611216T>A | CA384361117 | FGD4 | c.1271T>A (p.Ile424Lys) c.1526T>A (p.Ile509Lys) c.992T>A (p.Ile331Lys) c.83T>A (p.Ile28Lys) n.778T>A c.1682T>A (p.Ile561Lys) c.*663T>A (n.*663T>A) c.*682T>A (n.*682T>A) c.860T>A c.1607T>A (p.Ile536Lys) c.*640T>A (n.*640T>A) c.527T>A (p.Ile176Lys) c.239T>A (p.Ile80Lys) c.1763T>A (p.Ile588Lys) c.1565T>A (p.Ile522Lys) c.719T>A (p.Ile240Lys) c.674T>A (p.Ile225Lys) c.506T>A (p.Ile169Lys) c.380T>A (p.Ile127Lys) n.1972T>A | |
12 | g.32611216T>C | CA384361115 | FGD4 | c.1271T>C (p.Ile424Thr) c.1526T>C (p.Ile509Thr) c.992T>C (p.Ile331Thr) c.83T>C (p.Ile28Thr) n.778T>C c.1682T>C (p.Ile561Thr) c.*663T>C (n.*663T>C) c.*682T>C (n.*682T>C) c.860T>C c.1607T>C (p.Ile536Thr) c.*640T>C (n.*640T>C) c.527T>C (p.Ile176Thr) c.239T>C (p.Ile80Thr) c.1763T>C (p.Ile588Thr) c.1565T>C (p.Ile522Thr) c.719T>C (p.Ile240Thr) c.674T>C (p.Ile225Thr) c.506T>C (p.Ile169Thr) c.380T>C (p.Ile127Thr) n.1972T>C | |
12 | g.32611216T>G | CA384361116 | FGD4 | c.1271T>G (p.Ile424Arg) c.1526T>G (p.Ile509Arg) c.992T>G (p.Ile331Arg) c.83T>G (p.Ile28Arg) n.778T>G c.1682T>G (p.Ile561Arg) c.*663T>G (n.*663T>G) c.*682T>G (n.*682T>G) c.860T>G c.1607T>G (p.Ile536Arg) c.*640T>G (n.*640T>G) c.527T>G (p.Ile176Arg) c.239T>G (p.Ile80Arg) c.1763T>G (p.Ile588Arg) c.1565T>G (p.Ile522Arg) c.719T>G (p.Ile240Arg) c.674T>G (p.Ile225Arg) c.506T>G (p.Ile169Arg) c.380T>G (p.Ile127Arg) n.1972T>G | |
12 | g.32611217A>C | CA479167865 | FGD4 | c.1272A>C (p.Ile424=) c.1527A>C (p.Ile509=) c.993A>C (p.Ile331=) c.84A>C (p.Ile28=) n.779A>C c.1683A>C (p.Ile561=) c.*664A>C (n.*664A>C) c.*683A>C (n.*683A>C) c.861A>C c.1608A>C (p.Ile536=) c.*641A>C (n.*641A>C) c.528A>C (p.Ile176=) c.240A>C (p.Ile80=) c.1764A>C (p.Ile588=) c.1566A>C (p.Ile522=) c.720A>C (p.Ile240=) c.675A>C (p.Ile225=) c.507A>C (p.Ile169=) c.381A>C (p.Ile127=) n.1973A>C | |
12 | g.32611217A>G | CA384361118 | FGD4 | c.1272A>G (p.Ile424Met) c.1527A>G (p.Ile509Met) c.993A>G (p.Ile331Met) c.84A>G (p.Ile28Met) n.779A>G c.1683A>G (p.Ile561Met) c.*664A>G (n.*664A>G) c.*683A>G (n.*683A>G) c.861A>G c.1608A>G (p.Ile536Met) c.*641A>G (n.*641A>G) c.528A>G (p.Ile176Met) c.240A>G (p.Ile80Met) c.1764A>G (p.Ile588Met) c.1566A>G (p.Ile522Met) c.720A>G (p.Ile240Met) c.675A>G (p.Ile225Met) c.507A>G (p.Ile169Met) c.381A>G (p.Ile127Met) n.1973A>G | |
12 | g.32611217A>T | CA479167866 | FGD4 | c.1272A>T (p.Ile424=) c.1527A>T (p.Ile509=) c.993A>T (p.Ile331=) c.84A>T (p.Ile28=) n.779A>T c.1683A>T (p.Ile561=) c.*664A>T (n.*664A>T) c.*683A>T (n.*683A>T) c.861A>T c.1608A>T (p.Ile536=) c.*641A>T (n.*641A>T) c.528A>T (p.Ile176=) c.240A>T (p.Ile80=) c.1764A>T (p.Ile588=) c.1566A>T (p.Ile522=) c.720A>T (p.Ile240=) c.675A>T (p.Ile225=) c.507A>T (p.Ile169=) c.381A>T (p.Ile127=) n.1973A>T | |
12 | g.32611218A= | CA2026267801 | FGD4 | c.1273A= (p.Lys425=) c.1528A= (p.Lys510=) c.994A= (p.Lys332=) c.85A= (p.Lys29=) n.780A= c.1684A= (p.Lys562=) c.*665A= (n.*665A=) c.*684A= (n.*684A=) c.862A= c.1609A= (p.Lys537=) c.*642A= (n.*642A=) c.529A= (p.Lys177=) c.241A= (p.Lys81=) c.1765A= (p.Lys589=) c.1567A= (p.Lys523=) c.721A= (p.Lys241=) c.676A= (p.Lys226=) c.508A= (p.Lys170=) c.382A= (p.Lys128=) n.1974A= | |
12 | g.32611218A>C | CA384361119 | FGD4 | c.1273A>C (p.Lys425Gln) c.1528A>C (p.Lys510Gln) c.994A>C (p.Lys332Gln) c.85A>C (p.Lys29Gln) n.780A>C c.1684A>C (p.Lys562Gln) c.*665A>C (n.*665A>C) c.*684A>C (n.*684A>C) c.862A>C c.1609A>C (p.Lys537Gln) c.*642A>C (n.*642A>C) c.529A>C (p.Lys177Gln) c.241A>C (p.Lys81Gln) c.1765A>C (p.Lys589Gln) c.1567A>C (p.Lys523Gln) c.721A>C (p.Lys241Gln) c.676A>C (p.Lys226Gln) c.508A>C (p.Lys170Gln) c.382A>C (p.Lys128Gln) n.1974A>C | |
12 | g.32611218A>G | CA384361120 | FGD4 | c.1273A>G (p.Lys425Glu) c.1528A>G (p.Lys510Glu) c.994A>G (p.Lys332Glu) c.85A>G (p.Lys29Glu) n.780A>G c.1684A>G (p.Lys562Glu) c.*665A>G (n.*665A>G) c.*684A>G (n.*684A>G) c.862A>G c.1609A>G (p.Lys537Glu) c.*642A>G (n.*642A>G) c.529A>G (p.Lys177Glu) c.241A>G (p.Lys81Glu) c.1765A>G (p.Lys589Glu) c.1567A>G (p.Lys523Glu) c.721A>G (p.Lys241Glu) c.676A>G (p.Lys226Glu) c.508A>G (p.Lys170Glu) c.382A>G (p.Lys128Glu) n.1974A>G | dbSNP gnomAD v4 |
12 | g.32611218A>T | CA384361121 | FGD4 | c.1273A>T (p.Lys425Ter) c.1528A>T (p.Lys510Ter) c.994A>T (p.Lys332Ter) c.85A>T (p.Lys29Ter) n.780A>T c.1684A>T (p.Lys562Ter) c.*665A>T (n.*665A>T) c.*684A>T (n.*684A>T) c.862A>T c.1609A>T (p.Lys537Ter) c.*642A>T (n.*642A>T) c.529A>T (p.Lys177Ter) c.241A>T (p.Lys81Ter) c.1765A>T (p.Lys589Ter) c.1567A>T (p.Lys523Ter) c.721A>T (p.Lys241Ter) c.676A>T (p.Lys226Ter) c.508A>T (p.Lys170Ter) c.382A>T (p.Lys128Ter) n.1974A>T | |
12 | g.32611219A>C | CA384361122 | FGD4 | c.1274A>C (p.Lys425Thr) c.1529A>C (p.Lys510Thr) c.995A>C (p.Lys332Thr) c.86A>C (p.Lys29Thr) n.781A>C c.1685A>C (p.Lys562Thr) c.*666A>C (n.*666A>C) c.*685A>C (n.*685A>C) c.863A>C c.1610A>C (p.Lys537Thr) c.*643A>C (n.*643A>C) c.530A>C (p.Lys177Thr) c.242A>C (p.Lys81Thr) c.1766A>C (p.Lys589Thr) c.1568A>C (p.Lys523Thr) c.722A>C (p.Lys241Thr) c.677A>C (p.Lys226Thr) c.509A>C (p.Lys170Thr) c.383A>C (p.Lys128Thr) n.1975A>C | |
12 | g.32611219A>G | CA384361123 | FGD4 | c.1274A>G (p.Lys425Arg) c.1529A>G (p.Lys510Arg) c.995A>G (p.Lys332Arg) c.86A>G (p.Lys29Arg) n.781A>G c.1685A>G (p.Lys562Arg) c.*666A>G (n.*666A>G) c.*685A>G (n.*685A>G) c.863A>G c.1610A>G (p.Lys537Arg) c.*643A>G (n.*643A>G) c.530A>G (p.Lys177Arg) c.242A>G (p.Lys81Arg) c.1766A>G (p.Lys589Arg) c.1568A>G (p.Lys523Arg) c.722A>G (p.Lys241Arg) c.677A>G (p.Lys226Arg) c.509A>G (p.Lys170Arg) c.383A>G (p.Lys128Arg) n.1975A>G | |
12 | g.32611219A>T | CA384361124 | FGD4 | c.1274A>T (p.Lys425Ile) c.1529A>T (p.Lys510Ile) c.995A>T (p.Lys332Ile) c.86A>T (p.Lys29Ile) n.781A>T c.1685A>T (p.Lys562Ile) c.*666A>T (n.*666A>T) c.*685A>T (n.*685A>T) c.863A>T c.1610A>T (p.Lys537Ile) c.*643A>T (n.*643A>T) c.530A>T (p.Lys177Ile) c.242A>T (p.Lys81Ile) c.1766A>T (p.Lys589Ile) c.1568A>T (p.Lys523Ile) c.722A>T (p.Lys241Ile) c.677A>T (p.Lys226Ile) c.509A>T (p.Lys170Ile) c.383A>T (p.Lys128Ile) n.1975A>T | |
12 | g.32611220A>C | CA384361125 | FGD4 | c.1275A>C (p.Lys425Asn) c.1530A>C (p.Lys510Asn) c.996A>C (p.Lys332Asn) c.87A>C (p.Lys29Asn) n.782A>C c.1686A>C (p.Lys562Asn) c.*667A>C (n.*667A>C) c.*686A>C (n.*686A>C) c.864A>C c.1611A>C (p.Lys537Asn) c.*644A>C (n.*644A>C) c.531A>C (p.Lys177Asn) c.243A>C (p.Lys81Asn) c.1767A>C (p.Lys589Asn) c.1569A>C (p.Lys523Asn) c.723A>C (p.Lys241Asn) c.678A>C (p.Lys226Asn) c.510A>C (p.Lys170Asn) c.384A>C (p.Lys128Asn) n.1976A>C | |
12 | g.32611220A>G | CA479167867 | FGD4 | c.1275A>G (p.Lys425=) c.1530A>G (p.Lys510=) c.996A>G (p.Lys332=) c.87A>G (p.Lys29=) n.782A>G c.1686A>G (p.Lys562=) c.*667A>G (n.*667A>G) c.*686A>G (n.*686A>G) c.864A>G c.1611A>G (p.Lys537=) c.*644A>G (n.*644A>G) c.531A>G (p.Lys177=) c.243A>G (p.Lys81=) c.1767A>G (p.Lys589=) c.1569A>G (p.Lys523=) c.723A>G (p.Lys241=) c.678A>G (p.Lys226=) c.510A>G (p.Lys170=) c.384A>G (p.Lys128=) n.1976A>G | gnomAD v4 |
12 | g.32611220A>T | CA384361126 | FGD4 | c.1275A>T (p.Lys425Asn) c.1530A>T (p.Lys510Asn) c.996A>T (p.Lys332Asn) c.87A>T (p.Lys29Asn) n.782A>T c.1686A>T (p.Lys562Asn) c.*667A>T (n.*667A>T) c.*686A>T (n.*686A>T) c.864A>T c.1611A>T (p.Lys537Asn) c.*644A>T (n.*644A>T) c.531A>T (p.Lys177Asn) c.243A>T (p.Lys81Asn) c.1767A>T (p.Lys589Asn) c.1569A>T (p.Lys523Asn) c.723A>T (p.Lys241Asn) c.678A>T (p.Lys226Asn) c.510A>T (p.Lys170Asn) c.384A>T (p.Lys128Asn) n.1976A>T | |
12 | g.32611221G>A | CA384361127 | FGD4 | c.1276G>A (p.Glu426Lys) c.1531G>A (p.Glu511Lys) c.997G>A (p.Glu333Lys) c.88G>A (p.Glu30Lys) n.783G>A c.1687G>A (p.Glu563Lys) c.*668G>A (n.*668G>A) c.*687G>A (n.*687G>A) c.865G>A c.1612G>A (p.Glu538Lys) c.*645G>A (n.*645G>A) c.532G>A (p.Glu178Lys) c.244G>A (p.Glu82Lys) c.1768G>A (p.Glu590Lys) c.1570G>A (p.Glu524Lys) c.724G>A (p.Glu242Lys) c.679G>A (p.Glu227Lys) c.511G>A (p.Glu171Lys) c.385G>A (p.Glu129Lys) n.1977G>A | |
12 | g.32611221G>C | CA384361128 | FGD4 | c.1276G>C (p.Glu426Gln) c.1531G>C (p.Glu511Gln) c.997G>C (p.Glu333Gln) c.88G>C (p.Glu30Gln) n.783G>C c.1687G>C (p.Glu563Gln) c.*668G>C (n.*668G>C) c.*687G>C (n.*687G>C) c.865G>C c.1612G>C (p.Glu538Gln) c.*645G>C (n.*645G>C) c.532G>C (p.Glu178Gln) c.244G>C (p.Glu82Gln) c.1768G>C (p.Glu590Gln) c.1570G>C (p.Glu524Gln) c.724G>C (p.Glu242Gln) c.679G>C (p.Glu227Gln) c.511G>C (p.Glu171Gln) c.385G>C (p.Glu129Gln) n.1977G>C | |
12 | g.32611221G>T | CA384361129 | FGD4 | c.1276G>T (p.Glu426Ter) c.1531G>T (p.Glu511Ter) c.997G>T (p.Glu333Ter) c.88G>T (p.Glu30Ter) n.783G>T c.1687G>T (p.Glu563Ter) c.*668G>T (n.*668G>T) c.*687G>T (n.*687G>T) c.865G>T c.1612G>T (p.Glu538Ter) c.*645G>T (n.*645G>T) c.532G>T (p.Glu178Ter) c.244G>T (p.Glu82Ter) c.1768G>T (p.Glu590Ter) c.1570G>T (p.Glu524Ter) c.724G>T (p.Glu242Ter) c.679G>T (p.Glu227Ter) c.511G>T (p.Glu171Ter) c.385G>T (p.Glu129Ter) n.1977G>T | |
12 | g.32611221_32611222delinsGA | CA2026267802 | FGD4 | c.1276_1277delinsGA (p.Glu426=) c.1531_1532delinsGA (p.Glu511=) c.997_998delinsGA (p.Glu333=) c.88_89delinsGA (p.Glu30=) n.783_784delinsGA c.1687_1688delinsGA (p.Glu563=) c.*668_*669delinsGA (n.*668_*669delinsGA) c.*687_*688delinsGA (n.*687_*688delinsGA) c.865_866delinsGA c.1612_1613delinsGA (p.Glu538=) c.*645_*646delinsGA (n.*645_*646delinsGA) c.532_533delinsGA (p.Glu178=) c.244_245delinsGA (p.Glu82=) c.1768_1769delinsGA (p.Glu590=) c.1570_1571delinsGA (p.Glu524=) c.724_725delinsGA (p.Glu242=) c.679_680delinsGA (p.Glu227=) c.511_512delinsGA (p.Glu171=) c.385_386delinsGA (p.Glu129=) n.1977_1978delinsGA | |
12 | g.32611222A= | CA2026267803 | FGD4 | c.1277A= (p.Glu426=) c.1532A= (p.Glu511=) c.998A= (p.Glu333=) c.89A= (p.Glu30=) n.784A= c.1688A= (p.Glu563=) c.*669A= (n.*669A=) c.*688A= (n.*688A=) c.866A= c.1613A= (p.Glu538=) c.*646A= (n.*646A=) c.533A= (p.Glu178=) c.245A= (p.Glu82=) c.1769A= (p.Glu590=) c.1571A= (p.Glu524=) c.725A= (p.Glu242=) c.680A= (p.Glu227=) c.512A= (p.Glu171=) c.386A= (p.Glu129=) n.1978A= | |
12 | g.32611222A>C | CA384361130 | FGD4 | c.1277A>C (p.Glu426Ala) c.1532A>C (p.Glu511Ala) c.998A>C (p.Glu333Ala) c.89A>C (p.Glu30Ala) n.784A>C c.1688A>C (p.Glu563Ala) c.*669A>C (n.*669A>C) c.*688A>C (n.*688A>C) c.866A>C c.1613A>C (p.Glu538Ala) c.*646A>C (n.*646A>C) c.533A>C (p.Glu178Ala) c.245A>C (p.Glu82Ala) c.1769A>C (p.Glu590Ala) c.1571A>C (p.Glu524Ala) c.725A>C (p.Glu242Ala) c.680A>C (p.Glu227Ala) c.512A>C (p.Glu171Ala) c.386A>C (p.Glu129Ala) n.1978A>C | |
12 | g.32611222A>G | CA384361131 | FGD4 | c.1277A>G (p.Glu426Gly) c.1532A>G (p.Glu511Gly) c.998A>G (p.Glu333Gly) c.89A>G (p.Glu30Gly) n.784A>G c.1688A>G (p.Glu563Gly) c.*669A>G (n.*669A>G) c.*688A>G (n.*688A>G) c.866A>G c.1613A>G (p.Glu538Gly) c.*646A>G (n.*646A>G) c.533A>G (p.Glu178Gly) c.245A>G (p.Glu82Gly) c.1769A>G (p.Glu590Gly) c.1571A>G (p.Glu524Gly) c.725A>G (p.Glu242Gly) c.680A>G (p.Glu227Gly) c.512A>G (p.Glu171Gly) c.386A>G (p.Glu129Gly) n.1978A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611222A>T | CA384361132 | FGD4 | c.1277A>T (p.Glu426Val) c.1532A>T (p.Glu511Val) c.998A>T (p.Glu333Val) c.89A>T (p.Glu30Val) n.784A>T c.1688A>T (p.Glu563Val) c.*669A>T (n.*669A>T) c.*688A>T (n.*688A>T) c.866A>T c.1613A>T (p.Glu538Val) c.*646A>T (n.*646A>T) c.533A>T (p.Glu178Val) c.245A>T (p.Glu82Val) c.1769A>T (p.Glu590Val) c.1571A>T (p.Glu524Val) c.725A>T (p.Glu242Val) c.680A>T (p.Glu227Val) c.512A>T (p.Glu171Val) c.386A>T (p.Glu129Val) n.1978A>T | |
12 | g.32611223del | CA6506856 | FGD4 | c.1278del (p.Gly427AspfsTer6) c.1533del (p.Gly512AspfsTer6) c.999del (p.Gly334AspfsTer6) c.90del (p.Gly31AspfsTer6) n.785del c.1689del (p.Gly564AspfsTer6) c.*670del (n.*670del) c.*689del (n.*689del) c.867del c.1614del (p.Gly539AspfsTer6) c.*647del (n.*647del) c.534del (p.Gly179AspfsTer6) c.246del (p.Gly83AspfsTer6) c.1770del (p.Gly591AspfsTer6) c.1572del (p.Gly525AspfsTer6) c.726del (p.Gly243AspfsTer6) c.681del (p.Gly228AspfsTer6) c.513del (p.Gly172AspfsTer6) c.387del (p.Gly130AspfsTer6) n.1979del | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611223A= | CA2026267804 | FGD4 | c.1278A= (p.Glu426=) c.1533A= (p.Glu511=) c.999A= (p.Glu333=) c.90A= (p.Glu30=) n.785A= c.1689A= (p.Glu563=) c.*670A= (n.*670A=) c.*689A= (n.*689A=) c.867A= c.1614A= (p.Glu538=) c.*647A= (n.*647A=) c.534A= (p.Glu178=) c.246A= (p.Glu82=) c.1770A= (p.Glu590=) c.1572A= (p.Glu524=) c.726A= (p.Glu242=) c.681A= (p.Glu227=) c.513A= (p.Glu171=) c.387A= (p.Glu129=) n.1979A= | |
12 | g.32611223A>C | CA10584432 | FGD4 | c.1278A>C (p.Glu426Asp) c.1533A>C (p.Glu511Asp) c.999A>C (p.Glu333Asp) c.90A>C (p.Glu30Asp) n.785A>C c.1689A>C (p.Glu563Asp) c.*670A>C (n.*670A>C) c.*689A>C (n.*689A>C) c.867A>C c.1614A>C (p.Glu538Asp) c.*647A>C (n.*647A>C) c.534A>C (p.Glu178Asp) c.246A>C (p.Glu82Asp) c.1770A>C (p.Glu590Asp) c.1572A>C (p.Glu524Asp) c.726A>C (p.Glu242Asp) c.681A>C (p.Glu227Asp) c.513A>C (p.Glu171Asp) c.387A>C (p.Glu129Asp) n.1979A>C | ClinVar dbSNP |
12 | g.32611223A>G | CA479167868 | FGD4 | c.1278A>G (p.Glu426=) c.1533A>G (p.Glu511=) c.999A>G (p.Glu333=) c.90A>G (p.Glu30=) n.785A>G c.1689A>G (p.Glu563=) c.*670A>G (n.*670A>G) c.*689A>G (n.*689A>G) c.867A>G c.1614A>G (p.Glu538=) c.*647A>G (n.*647A>G) c.534A>G (p.Glu178=) c.246A>G (p.Glu82=) c.1770A>G (p.Glu590=) c.1572A>G (p.Glu524=) c.726A>G (p.Glu242=) c.681A>G (p.Glu227=) c.513A>G (p.Glu171=) c.387A>G (p.Glu129=) n.1979A>G | dbSNP gnomAD v4 |
12 | g.32611223A>T | CA384361133 | FGD4 | c.1278A>T (p.Glu426Asp) c.1533A>T (p.Glu511Asp) c.999A>T (p.Glu333Asp) c.90A>T (p.Glu30Asp) n.785A>T c.1689A>T (p.Glu563Asp) c.*670A>T (n.*670A>T) c.*689A>T (n.*689A>T) c.867A>T c.1614A>T (p.Glu538Asp) c.*647A>T (n.*647A>T) c.534A>T (p.Glu178Asp) c.246A>T (p.Glu82Asp) c.1770A>T (p.Glu590Asp) c.1572A>T (p.Glu524Asp) c.726A>T (p.Glu242Asp) c.681A>T (p.Glu227Asp) c.513A>T (p.Glu171Asp) c.387A>T (p.Glu129Asp) n.1979A>T | |
12 | g.32611224G>A | CA384361134 | FGD4 | c.1279G>A (p.Gly427Arg) c.1534G>A (p.Gly512Arg) c.1000G>A (p.Gly334Arg) c.91G>A (p.Gly31Arg) n.786G>A c.1690G>A (p.Gly564Arg) c.*671G>A (n.*671G>A) c.*690G>A (n.*690G>A) c.868G>A c.1615G>A (p.Gly539Arg) c.*648G>A (n.*648G>A) c.535G>A (p.Gly179Arg) c.247G>A (p.Gly83Arg) c.1771G>A (p.Gly591Arg) c.1573G>A (p.Gly525Arg) c.727G>A (p.Gly243Arg) c.682G>A (p.Gly228Arg) c.514G>A (p.Gly172Arg) c.388G>A (p.Gly130Arg) n.1980G>A | |
12 | g.32611224G>C | CA384361135 | FGD4 | c.1279G>C (p.Gly427Arg) c.1534G>C (p.Gly512Arg) c.1000G>C (p.Gly334Arg) c.91G>C (p.Gly31Arg) n.786G>C c.1690G>C (p.Gly564Arg) c.*671G>C (n.*671G>C) c.*690G>C (n.*690G>C) c.868G>C c.1615G>C (p.Gly539Arg) c.*648G>C (n.*648G>C) c.535G>C (p.Gly179Arg) c.247G>C (p.Gly83Arg) c.1771G>C (p.Gly591Arg) c.1573G>C (p.Gly525Arg) c.727G>C (p.Gly243Arg) c.682G>C (p.Gly228Arg) c.514G>C (p.Gly172Arg) c.388G>C (p.Gly130Arg) n.1980G>C | |
12 | g.32611224G>T | CA384361136 | FGD4 | c.1279G>T (p.Gly427Ter) c.1534G>T (p.Gly512Ter) c.1000G>T (p.Gly334Ter) c.91G>T (p.Gly31Ter) n.786G>T c.1690G>T (p.Gly564Ter) c.*671G>T (n.*671G>T) c.*690G>T (n.*690G>T) c.868G>T c.1615G>T (p.Gly539Ter) c.*648G>T (n.*648G>T) c.535G>T (p.Gly179Ter) c.247G>T (p.Gly83Ter) c.1771G>T (p.Gly591Ter) c.1573G>T (p.Gly525Ter) c.727G>T (p.Gly243Ter) c.682G>T (p.Gly228Ter) c.514G>T (p.Gly172Ter) c.388G>T (p.Gly130Ter) n.1980G>T | |
12 | g.32611225G>A | CA384361137 | FGD4 | c.1280G>A (p.Gly427Glu) c.1535G>A (p.Gly512Glu) c.1001G>A (p.Gly334Glu) c.92G>A (p.Gly31Glu) n.787G>A c.1691G>A (p.Gly564Glu) c.*672G>A (n.*672G>A) c.*691G>A (n.*691G>A) c.869G>A c.1616G>A (p.Gly539Glu) c.*649G>A (n.*649G>A) c.536G>A (p.Gly179Glu) c.248G>A (p.Gly83Glu) c.1772G>A (p.Gly591Glu) c.1574G>A (p.Gly525Glu) c.728G>A (p.Gly243Glu) c.683G>A (p.Gly228Glu) c.515G>A (p.Gly172Glu) c.389G>A (p.Gly130Glu) n.1981G>A | |
12 | g.32611225G>C | CA384361138 | FGD4 | c.1280G>C (p.Gly427Ala) c.1535G>C (p.Gly512Ala) c.1001G>C (p.Gly334Ala) c.92G>C (p.Gly31Ala) n.787G>C c.1691G>C (p.Gly564Ala) c.*672G>C (n.*672G>C) c.*691G>C (n.*691G>C) c.869G>C c.1616G>C (p.Gly539Ala) c.*649G>C (n.*649G>C) c.536G>C (p.Gly179Ala) c.248G>C (p.Gly83Ala) c.1772G>C (p.Gly591Ala) c.1574G>C (p.Gly525Ala) c.728G>C (p.Gly243Ala) c.683G>C (p.Gly228Ala) c.515G>C (p.Gly172Ala) c.389G>C (p.Gly130Ala) n.1981G>C | |
12 | g.32611225G>T | CA384361139 | FGD4 | c.1280G>T (p.Gly427Val) c.1535G>T (p.Gly512Val) c.1001G>T (p.Gly334Val) c.92G>T (p.Gly31Val) n.787G>T c.1691G>T (p.Gly564Val) c.*672G>T (n.*672G>T) c.*691G>T (n.*691G>T) c.869G>T c.1616G>T (p.Gly539Val) c.*649G>T (n.*649G>T) c.536G>T (p.Gly179Val) c.248G>T (p.Gly83Val) c.1772G>T (p.Gly591Val) c.1574G>T (p.Gly525Val) c.728G>T (p.Gly243Val) c.683G>T (p.Gly228Val) c.515G>T (p.Gly172Val) c.389G>T (p.Gly130Val) n.1981G>T | |
12 | g.32611226A>C | CA479167869 | FGD4 | c.1281A>C (p.Gly427=) c.1536A>C (p.Gly512=) c.1002A>C (p.Gly334=) c.93A>C (p.Gly31=) n.788A>C c.1692A>C (p.Gly564=) c.*673A>C (n.*673A>C) c.*692A>C (n.*692A>C) c.870A>C c.1617A>C (p.Gly539=) c.*650A>C (n.*650A>C) c.537A>C (p.Gly179=) c.249A>C (p.Gly83=) c.1773A>C (p.Gly591=) c.1575A>C (p.Gly525=) c.729A>C (p.Gly243=) c.684A>C (p.Gly228=) c.516A>C (p.Gly172=) c.390A>C (p.Gly130=) n.1982A>C | |
12 | g.32611226A>G | CA479167870 | FGD4 | c.1281A>G (p.Gly427=) c.1536A>G (p.Gly512=) c.1002A>G (p.Gly334=) c.93A>G (p.Gly31=) n.788A>G c.1692A>G (p.Gly564=) c.*673A>G (n.*673A>G) c.*692A>G (n.*692A>G) c.870A>G c.1617A>G (p.Gly539=) c.*650A>G (n.*650A>G) c.537A>G (p.Gly179=) c.249A>G (p.Gly83=) c.1773A>G (p.Gly591=) c.1575A>G (p.Gly525=) c.729A>G (p.Gly243=) c.684A>G (p.Gly228=) c.516A>G (p.Gly172=) c.390A>G (p.Gly130=) n.1982A>G | |
12 | g.32611226A>T | CA479167871 | FGD4 | c.1281A>T (p.Gly427=) c.1536A>T (p.Gly512=) c.1002A>T (p.Gly334=) c.93A>T (p.Gly31=) n.788A>T c.1692A>T (p.Gly564=) c.*673A>T (n.*673A>T) c.*692A>T (n.*692A>T) c.870A>T c.1617A>T (p.Gly539=) c.*650A>T (n.*650A>T) c.537A>T (p.Gly179=) c.249A>T (p.Gly83=) c.1773A>T (p.Gly591=) c.1575A>T (p.Gly525=) c.729A>T (p.Gly243=) c.684A>T (p.Gly228=) c.516A>T (p.Gly172=) c.390A>T (p.Gly130=) n.1982A>T | |
12 | g.32611227C>A | CA384361140 | FGD4 | c.1282C>A (p.Gln428Lys) c.1537C>A (p.Gln513Lys) c.1003C>A (p.Gln335Lys) c.94C>A (p.Gln32Lys) n.789C>A c.1693C>A (p.Gln565Lys) c.*674C>A (n.*674C>A) c.*693C>A (n.*693C>A) c.871C>A c.1618C>A (p.Gln540Lys) c.*651C>A (n.*651C>A) c.538C>A (p.Gln180Lys) c.250C>A (p.Gln84Lys) c.1774C>A (p.Gln592Lys) c.1576C>A (p.Gln526Lys) c.730C>A (p.Gln244Lys) c.685C>A (p.Gln229Lys) c.517C>A (p.Gln173Lys) c.391C>A (p.Gln131Lys) n.1983C>A | |
12 | g.32611227C>G | CA384361141 | FGD4 | c.1282C>G (p.Gln428Glu) c.1537C>G (p.Gln513Glu) c.1003C>G (p.Gln335Glu) c.94C>G (p.Gln32Glu) n.789C>G c.1693C>G (p.Gln565Glu) c.*674C>G (n.*674C>G) c.*693C>G (n.*693C>G) c.871C>G c.1618C>G (p.Gln540Glu) c.*651C>G (n.*651C>G) c.538C>G (p.Gln180Glu) c.250C>G (p.Gln84Glu) c.1774C>G (p.Gln592Glu) c.1576C>G (p.Gln526Glu) c.730C>G (p.Gln244Glu) c.685C>G (p.Gln229Glu) c.517C>G (p.Gln173Glu) c.391C>G (p.Gln131Glu) n.1983C>G | |
12 | g.32611227C>T | CA384361142 | FGD4 | c.1282C>T (p.Gln428Ter) c.1537C>T (p.Gln513Ter) c.1003C>T (p.Gln335Ter) c.94C>T (p.Gln32Ter) n.789C>T c.1693C>T (p.Gln565Ter) c.*674C>T (n.*674C>T) c.*693C>T (n.*693C>T) c.871C>T c.1618C>T (p.Gln540Ter) c.*651C>T (n.*651C>T) c.538C>T (p.Gln180Ter) c.250C>T (p.Gln84Ter) c.1774C>T (p.Gln592Ter) c.1576C>T (p.Gln526Ter) c.730C>T (p.Gln244Ter) c.685C>T (p.Gln229Ter) c.517C>T (p.Gln173Ter) c.391C>T (p.Gln131Ter) n.1983C>T | COSMIC COSMIC COSMIC |
12 | g.32611228A= | CA2026267805 | FGD4 | c.1283A= (p.Gln428=) c.1538A= (p.Gln513=) c.1004A= (p.Gln335=) c.95A= (p.Gln32=) n.790A= c.1694A= (p.Gln565=) c.*675A= (n.*675A=) c.*694A= (n.*694A=) c.872A= c.1619A= (p.Gln540=) c.*652A= (n.*652A=) c.539A= (p.Gln180=) c.251A= (p.Gln84=) c.1775A= (p.Gln592=) c.1577A= (p.Gln526=) c.731A= (p.Gln244=) c.686A= (p.Gln229=) c.518A= (p.Gln173=) c.392A= (p.Gln131=) n.1984A= | |
12 | g.32611228A>C | CA6506857 | FGD4 | c.1283A>C (p.Gln428Pro) c.1538A>C (p.Gln513Pro) c.1004A>C (p.Gln335Pro) c.95A>C (p.Gln32Pro) n.790A>C c.1694A>C (p.Gln565Pro) c.*675A>C (n.*675A>C) c.*694A>C (n.*694A>C) c.872A>C c.1619A>C (p.Gln540Pro) c.*652A>C (n.*652A>C) c.539A>C (p.Gln180Pro) c.251A>C (p.Gln84Pro) c.1775A>C (p.Gln592Pro) c.1577A>C (p.Gln526Pro) c.731A>C (p.Gln244Pro) c.686A>C (p.Gln229Pro) c.518A>C (p.Gln173Pro) c.392A>C (p.Gln131Pro) n.1984A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611228A>G | CA384361143 | FGD4 | c.1283A>G (p.Gln428Arg) c.1538A>G (p.Gln513Arg) c.1004A>G (p.Gln335Arg) c.95A>G (p.Gln32Arg) n.790A>G c.1694A>G (p.Gln565Arg) c.*675A>G (n.*675A>G) c.*694A>G (n.*694A>G) c.872A>G c.1619A>G (p.Gln540Arg) c.*652A>G (n.*652A>G) c.539A>G (p.Gln180Arg) c.251A>G (p.Gln84Arg) c.1775A>G (p.Gln592Arg) c.1577A>G (p.Gln526Arg) c.731A>G (p.Gln244Arg) c.686A>G (p.Gln229Arg) c.518A>G (p.Gln173Arg) c.392A>G (p.Gln131Arg) n.1984A>G | |
12 | g.32611228A>T | CA384361144 | FGD4 | c.1283A>T (p.Gln428Leu) c.1538A>T (p.Gln513Leu) c.1004A>T (p.Gln335Leu) c.95A>T (p.Gln32Leu) n.790A>T c.1694A>T (p.Gln565Leu) c.*675A>T (n.*675A>T) c.*694A>T (n.*694A>T) c.872A>T c.1619A>T (p.Gln540Leu) c.*652A>T (n.*652A>T) c.539A>T (p.Gln180Leu) c.251A>T (p.Gln84Leu) c.1775A>T (p.Gln592Leu) c.1577A>T (p.Gln526Leu) c.731A>T (p.Gln244Leu) c.686A>T (p.Gln229Leu) c.518A>T (p.Gln173Leu) c.392A>T (p.Gln131Leu) n.1984A>T | |
12 | g.32611229G>A | CA479167872 | FGD4 | c.1284G>A (p.Gln428=) c.1539G>A (p.Gln513=) c.1005G>A (p.Gln335=) c.96G>A (p.Gln32=) n.791G>A c.1695G>A (p.Gln565=) c.*676G>A (n.*676G>A) c.*695G>A (n.*695G>A) c.873G>A c.1620G>A (p.Gln540=) c.*653G>A (n.*653G>A) c.540G>A (p.Gln180=) c.252G>A (p.Gln84=) c.1776G>A (p.Gln592=) c.1578G>A (p.Gln526=) c.732G>A (p.Gln244=) c.687G>A (p.Gln229=) c.519G>A (p.Gln173=) c.393G>A (p.Gln131=) n.1985G>A | dbSNP |
12 | g.32611229G>C | CA384361145 | FGD4 | c.1284G>C (p.Gln428His) c.1539G>C (p.Gln513His) c.1005G>C (p.Gln335His) c.96G>C (p.Gln32His) n.791G>C c.1695G>C (p.Gln565His) c.*676G>C (n.*676G>C) c.*695G>C (n.*695G>C) c.873G>C c.1620G>C (p.Gln540His) c.*653G>C (n.*653G>C) c.540G>C (p.Gln180His) c.252G>C (p.Gln84His) c.1776G>C (p.Gln592His) c.1578G>C (p.Gln526His) c.732G>C (p.Gln244His) c.687G>C (p.Gln229His) c.519G>C (p.Gln173His) c.393G>C (p.Gln131His) n.1985G>C | dbSNP |
12 | g.32611229G= | CA2026267806 | FGD4 | c.1284G= (p.Gln428=) c.1539G= (p.Gln513=) c.1005G= (p.Gln335=) c.96G= (p.Gln32=) n.791G= c.1695G= (p.Gln565=) c.*676G= (n.*676G=) c.*695G= (n.*695G=) c.873G= c.1620G= (p.Gln540=) c.*653G= (n.*653G=) c.540G= (p.Gln180=) c.252G= (p.Gln84=) c.1776G= (p.Gln592=) c.1578G= (p.Gln526=) c.732G= (p.Gln244=) c.687G= (p.Gln229=) c.519G= (p.Gln173=) c.393G= (p.Gln131=) n.1985G= | |
12 | g.32611229G>T | CA384361146 | FGD4 | c.1284G>T (p.Gln428His) c.1539G>T (p.Gln513His) c.1005G>T (p.Gln335His) c.96G>T (p.Gln32His) n.791G>T c.1695G>T (p.Gln565His) c.*676G>T (n.*676G>T) c.*695G>T (n.*695G>T) c.873G>T c.1620G>T (p.Gln540His) c.*653G>T (n.*653G>T) c.540G>T (p.Gln180His) c.252G>T (p.Gln84His) c.1776G>T (p.Gln592His) c.1578G>T (p.Gln526His) c.732G>T (p.Gln244His) c.687G>T (p.Gln229His) c.519G>T (p.Gln173His) c.393G>T (p.Gln131His) n.1985G>T | |
12 | g.32611230A>C | CA384361147 | FGD4 | c.1285A>C (p.Ile429Leu) c.1540A>C (p.Ile514Leu) c.1006A>C (p.Ile336Leu) c.97A>C (p.Ile33Leu) n.792A>C c.1696A>C (p.Ile566Leu) c.*677A>C (n.*677A>C) c.*696A>C (n.*696A>C) c.874A>C c.1621A>C (p.Ile541Leu) c.*654A>C (n.*654A>C) c.541A>C (p.Ile181Leu) c.253A>C (p.Ile85Leu) c.1777A>C (p.Ile593Leu) c.1579A>C (p.Ile527Leu) c.733A>C (p.Ile245Leu) c.688A>C (p.Ile230Leu) c.520A>C (p.Ile174Leu) c.394A>C (p.Ile132Leu) n.1986A>C | |
12 | g.32611230A>G | CA384361148 | FGD4 | c.1285A>G (p.Ile429Val) c.1540A>G (p.Ile514Val) c.1006A>G (p.Ile336Val) c.97A>G (p.Ile33Val) n.792A>G c.1696A>G (p.Ile566Val) c.*677A>G (n.*677A>G) c.*696A>G (n.*696A>G) c.874A>G c.1621A>G (p.Ile541Val) c.*654A>G (n.*654A>G) c.541A>G (p.Ile181Val) c.253A>G (p.Ile85Val) c.1777A>G (p.Ile593Val) c.1579A>G (p.Ile527Val) c.733A>G (p.Ile245Val) c.688A>G (p.Ile230Val) c.520A>G (p.Ile174Val) c.394A>G (p.Ile132Val) n.1986A>G | |
12 | g.32611230A>T | CA384361149 | FGD4 | c.1285A>T (p.Ile429Phe) c.1540A>T (p.Ile514Phe) c.1006A>T (p.Ile336Phe) c.97A>T (p.Ile33Phe) n.792A>T c.1696A>T (p.Ile566Phe) c.*677A>T (n.*677A>T) c.*696A>T (n.*696A>T) c.874A>T c.1621A>T (p.Ile541Phe) c.*654A>T (n.*654A>T) c.541A>T (p.Ile181Phe) c.253A>T (p.Ile85Phe) c.1777A>T (p.Ile593Phe) c.1579A>T (p.Ile527Phe) c.733A>T (p.Ile245Phe) c.688A>T (p.Ile230Phe) c.520A>T (p.Ile174Phe) c.394A>T (p.Ile132Phe) n.1986A>T | |
12 | g.32611231T>A | CA384361150 | FGD4 | c.1286T>A (p.Ile429Asn) c.1541T>A (p.Ile514Asn) c.1007T>A (p.Ile336Asn) c.98T>A (p.Ile33Asn) n.793T>A c.1697T>A (p.Ile566Asn) c.*678T>A (n.*678T>A) c.*697T>A (n.*697T>A) c.875T>A c.1622T>A (p.Ile541Asn) c.*655T>A (n.*655T>A) c.542T>A (p.Ile181Asn) c.254T>A (p.Ile85Asn) c.1778T>A (p.Ile593Asn) c.1580T>A (p.Ile527Asn) c.734T>A (p.Ile245Asn) c.689T>A (p.Ile230Asn) c.521T>A (p.Ile174Asn) c.395T>A (p.Ile132Asn) n.1987T>A | |
12 | g.32611231T>C | CA384361151 | FGD4 | c.1286T>C (p.Ile429Thr) c.1541T>C (p.Ile514Thr) c.1007T>C (p.Ile336Thr) c.98T>C (p.Ile33Thr) n.793T>C c.1697T>C (p.Ile566Thr) c.*678T>C (n.*678T>C) c.*697T>C (n.*697T>C) c.875T>C c.1622T>C (p.Ile541Thr) c.*655T>C (n.*655T>C) c.542T>C (p.Ile181Thr) c.254T>C (p.Ile85Thr) c.1778T>C (p.Ile593Thr) c.1580T>C (p.Ile527Thr) c.734T>C (p.Ile245Thr) c.689T>C (p.Ile230Thr) c.521T>C (p.Ile174Thr) c.395T>C (p.Ile132Thr) n.1987T>C | gnomAD v4 |
12 | g.32611231T>G | CA384361152 | FGD4 | c.1286T>G (p.Ile429Ser) c.1541T>G (p.Ile514Ser) c.1007T>G (p.Ile336Ser) c.98T>G (p.Ile33Ser) n.793T>G c.1697T>G (p.Ile566Ser) c.*678T>G (n.*678T>G) c.*697T>G (n.*697T>G) c.875T>G c.1622T>G (p.Ile541Ser) c.*655T>G (n.*655T>G) c.542T>G (p.Ile181Ser) c.254T>G (p.Ile85Ser) c.1778T>G (p.Ile593Ser) c.1580T>G (p.Ile527Ser) c.734T>G (p.Ile245Ser) c.689T>G (p.Ile230Ser) c.521T>G (p.Ile174Ser) c.395T>G (p.Ile132Ser) n.1987T>G | |
12 | g.32611232C>A | CA479167873 | FGD4 | c.1287C>A (p.Ile429=) c.1542C>A (p.Ile514=) c.1008C>A (p.Ile336=) c.99C>A (p.Ile33=) n.794C>A c.1698C>A (p.Ile566=) c.*679C>A (n.*679C>A) c.*698C>A (n.*698C>A) c.876C>A c.1623C>A (p.Ile541=) c.*656C>A (n.*656C>A) c.543C>A (p.Ile181=) c.255C>A (p.Ile85=) c.1779C>A (p.Ile593=) c.1581C>A (p.Ile527=) c.735C>A (p.Ile245=) c.690C>A (p.Ile230=) c.522C>A (p.Ile174=) c.396C>A (p.Ile132=) n.1988C>A | gnomAD v4 |
12 | g.32611232C>G | CA384361153 | FGD4 | c.1287C>G (p.Ile429Met) c.1542C>G (p.Ile514Met) c.1008C>G (p.Ile336Met) c.99C>G (p.Ile33Met) n.794C>G c.1698C>G (p.Ile566Met) c.*679C>G (n.*679C>G) c.*698C>G (n.*698C>G) c.876C>G c.1623C>G (p.Ile541Met) c.*656C>G (n.*656C>G) c.543C>G (p.Ile181Met) c.255C>G (p.Ile85Met) c.1779C>G (p.Ile593Met) c.1581C>G (p.Ile527Met) c.735C>G (p.Ile245Met) c.690C>G (p.Ile230Met) c.522C>G (p.Ile174Met) c.396C>G (p.Ile132Met) n.1988C>G | |
12 | g.32611232C>T | CA479167874 | FGD4 | c.1287C>T (p.Ile429=) c.1542C>T (p.Ile514=) c.1008C>T (p.Ile336=) c.99C>T (p.Ile33=) n.794C>T c.1698C>T (p.Ile566=) c.*679C>T (n.*679C>T) c.*698C>T (n.*698C>T) c.876C>T c.1623C>T (p.Ile541=) c.*656C>T (n.*656C>T) c.543C>T (p.Ile181=) c.255C>T (p.Ile85=) c.1779C>T (p.Ile593=) c.1581C>T (p.Ile527=) c.735C>T (p.Ile245=) c.690C>T (p.Ile230=) c.522C>T (p.Ile174=) c.396C>T (p.Ile132=) n.1988C>T | |
12 | g.32611233C>A | CA384361154 | FGD4 | c.1288C>A (p.Leu430Ile) c.1543C>A (p.Leu515Ile) c.1009C>A (p.Leu337Ile) c.100C>A (p.Leu34Ile) n.795C>A c.1699C>A (p.Leu567Ile) c.*680C>A (n.*680C>A) c.*699C>A (n.*699C>A) c.877C>A c.1624C>A (p.Leu542Ile) c.*657C>A (n.*657C>A) c.544C>A (p.Leu182Ile) c.256C>A (p.Leu86Ile) c.1780C>A (p.Leu594Ile) c.1582C>A (p.Leu528Ile) c.736C>A (p.Leu246Ile) c.691C>A (p.Leu231Ile) c.523C>A (p.Leu175Ile) c.397C>A (p.Leu133Ile) n.1989C>A | |
12 | g.32611233C>G | CA384361155 | FGD4 | c.1288C>G (p.Leu430Val) c.1543C>G (p.Leu515Val) c.1009C>G (p.Leu337Val) c.100C>G (p.Leu34Val) n.795C>G c.1699C>G (p.Leu567Val) c.*680C>G (n.*680C>G) c.*699C>G (n.*699C>G) c.877C>G c.1624C>G (p.Leu542Val) c.*657C>G (n.*657C>G) c.544C>G (p.Leu182Val) c.256C>G (p.Leu86Val) c.1780C>G (p.Leu594Val) c.1582C>G (p.Leu528Val) c.736C>G (p.Leu246Val) c.691C>G (p.Leu231Val) c.523C>G (p.Leu175Val) c.397C>G (p.Leu133Val) n.1989C>G | |
12 | g.32611233C>T | CA384361156 | FGD4 | c.1288C>T (p.Leu430Phe) c.1543C>T (p.Leu515Phe) c.1009C>T (p.Leu337Phe) c.100C>T (p.Leu34Phe) n.795C>T c.1699C>T (p.Leu567Phe) c.*680C>T (n.*680C>T) c.*699C>T (n.*699C>T) c.877C>T c.1624C>T (p.Leu542Phe) c.*657C>T (n.*657C>T) c.544C>T (p.Leu182Phe) c.256C>T (p.Leu86Phe) c.1780C>T (p.Leu594Phe) c.1582C>T (p.Leu528Phe) c.736C>T (p.Leu246Phe) c.691C>T (p.Leu231Phe) c.523C>T (p.Leu175Phe) c.397C>T (p.Leu133Phe) n.1989C>T | ClinVar |
12 | g.32611234T>A | CA384361157 | FGD4 | c.1289T>A (p.Leu430His) c.1544T>A (p.Leu515His) c.1010T>A (p.Leu337His) c.101T>A (p.Leu34His) n.796T>A c.1700T>A (p.Leu567His) c.*681T>A (n.*681T>A) c.*700T>A (n.*700T>A) c.878T>A c.1625T>A (p.Leu542His) c.*658T>A (n.*658T>A) c.545T>A (p.Leu182His) c.257T>A (p.Leu86His) c.1781T>A (p.Leu594His) c.1583T>A (p.Leu528His) c.737T>A (p.Leu246His) c.692T>A (p.Leu231His) c.524T>A (p.Leu175His) c.398T>A (p.Leu133His) n.1990T>A | gnomAD v4 |
12 | g.32611234T>C | CA384361158 | FGD4 | c.1289T>C (p.Leu430Pro) c.1544T>C (p.Leu515Pro) c.1010T>C (p.Leu337Pro) c.101T>C (p.Leu34Pro) n.796T>C c.1700T>C (p.Leu567Pro) c.*681T>C (n.*681T>C) c.*700T>C (n.*700T>C) c.878T>C c.1625T>C (p.Leu542Pro) c.*658T>C (n.*658T>C) c.545T>C (p.Leu182Pro) c.257T>C (p.Leu86Pro) c.1781T>C (p.Leu594Pro) c.1583T>C (p.Leu528Pro) c.737T>C (p.Leu246Pro) c.692T>C (p.Leu231Pro) c.524T>C (p.Leu175Pro) c.398T>C (p.Leu133Pro) n.1990T>C | |
12 | g.32611234T>G | CA384361159 | FGD4 | c.1289T>G (p.Leu430Arg) c.1544T>G (p.Leu515Arg) c.1010T>G (p.Leu337Arg) c.101T>G (p.Leu34Arg) n.796T>G c.1700T>G (p.Leu567Arg) c.*681T>G (n.*681T>G) c.*700T>G (n.*700T>G) c.878T>G c.1625T>G (p.Leu542Arg) c.*658T>G (n.*658T>G) c.545T>G (p.Leu182Arg) c.257T>G (p.Leu86Arg) c.1781T>G (p.Leu594Arg) c.1583T>G (p.Leu528Arg) c.737T>G (p.Leu246Arg) c.692T>G (p.Leu231Arg) c.524T>G (p.Leu175Arg) c.398T>G (p.Leu133Arg) n.1990T>G | |
12 | g.32611235C>A | CA479167876 | FGD4 | c.1290C>A (p.Leu430=) c.1545C>A (p.Leu515=) c.1011C>A (p.Leu337=) c.102C>A (p.Leu34=) n.797C>A c.1701C>A (p.Leu567=) c.*682C>A (n.*682C>A) c.*701C>A (n.*701C>A) c.879C>A c.1626C>A (p.Leu542=) c.*659C>A (n.*659C>A) c.546C>A (p.Leu182=) c.258C>A (p.Leu86=) c.1782C>A (p.Leu594=) c.1584C>A (p.Leu528=) c.738C>A (p.Leu246=) c.693C>A (p.Leu231=) c.525C>A (p.Leu175=) c.399C>A (p.Leu133=) n.1991C>A | |
12 | g.32611235C>G | CA479167877 | FGD4 | c.1290C>G (p.Leu430=) c.1545C>G (p.Leu515=) c.1011C>G (p.Leu337=) c.102C>G (p.Leu34=) n.797C>G c.1701C>G (p.Leu567=) c.*682C>G (n.*682C>G) c.*701C>G (n.*701C>G) c.879C>G c.1626C>G (p.Leu542=) c.*659C>G (n.*659C>G) c.546C>G (p.Leu182=) c.258C>G (p.Leu86=) c.1782C>G (p.Leu594=) c.1584C>G (p.Leu528=) c.738C>G (p.Leu246=) c.693C>G (p.Leu231=) c.525C>G (p.Leu175=) c.399C>G (p.Leu133=) n.1991C>G | |
12 | g.32611235C>T | CA479167875 | FGD4 | c.1290C>T (p.Leu430=) c.1545C>T (p.Leu515=) c.1011C>T (p.Leu337=) c.102C>T (p.Leu34=) n.797C>T c.1701C>T (p.Leu567=) c.*682C>T (n.*682C>T) c.*701C>T (n.*701C>T) c.879C>T c.1626C>T (p.Leu542=) c.*659C>T (n.*659C>T) c.546C>T (p.Leu182=) c.258C>T (p.Leu86=) c.1782C>T (p.Leu594=) c.1584C>T (p.Leu528=) c.738C>T (p.Leu246=) c.693C>T (p.Leu231=) c.525C>T (p.Leu175=) c.399C>T (p.Leu133=) n.1991C>T | |
12 | g.32611236A>C | CA384361162 | FGD4 | c.1291A>C (p.Lys431Gln) c.1546A>C (p.Lys516Gln) c.1012A>C (p.Lys338Gln) c.103A>C (p.Lys35Gln) n.798A>C c.1702A>C (p.Lys568Gln) c.*683A>C (n.*683A>C) c.*702A>C (n.*702A>C) c.880A>C c.1627A>C (p.Lys543Gln) c.*660A>C (n.*660A>C) c.547A>C (p.Lys183Gln) c.259A>C (p.Lys87Gln) c.1783A>C (p.Lys595Gln) c.1585A>C (p.Lys529Gln) c.739A>C (p.Lys247Gln) c.694A>C (p.Lys232Gln) c.526A>C (p.Lys176Gln) c.400A>C (p.Lys134Gln) n.1992A>C | |
12 | g.32611236A>G | CA384361160 | FGD4 | c.1291A>G (p.Lys431Glu) c.1546A>G (p.Lys516Glu) c.1012A>G (p.Lys338Glu) c.103A>G (p.Lys35Glu) n.798A>G c.1702A>G (p.Lys568Glu) c.*683A>G (n.*683A>G) c.*702A>G (n.*702A>G) c.880A>G c.1627A>G (p.Lys543Glu) c.*660A>G (n.*660A>G) c.547A>G (p.Lys183Glu) c.259A>G (p.Lys87Glu) c.1783A>G (p.Lys595Glu) c.1585A>G (p.Lys529Glu) c.739A>G (p.Lys247Glu) c.694A>G (p.Lys232Glu) c.526A>G (p.Lys176Glu) c.400A>G (p.Lys134Glu) n.1992A>G | |
12 | g.32611236A>T | CA384361161 | FGD4 | c.1291A>T (p.Lys431Ter) c.1546A>T (p.Lys516Ter) c.1012A>T (p.Lys338Ter) c.103A>T (p.Lys35Ter) n.798A>T c.1702A>T (p.Lys568Ter) c.*683A>T (n.*683A>T) c.*702A>T (n.*702A>T) c.880A>T c.1627A>T (p.Lys543Ter) c.*660A>T (n.*660A>T) c.547A>T (p.Lys183Ter) c.259A>T (p.Lys87Ter) c.1783A>T (p.Lys595Ter) c.1585A>T (p.Lys529Ter) c.739A>T (p.Lys247Ter) c.694A>T (p.Lys232Ter) c.526A>T (p.Lys176Ter) c.400A>T (p.Lys134Ter) n.1992A>T | |
12 | g.32611237A= | CA2026267807 | FGD4 | c.1292A= (p.Lys431=) c.1547A= (p.Lys516=) c.1013A= (p.Lys338=) c.104A= (p.Lys35=) n.799A= c.1703A= (p.Lys568=) c.*684A= (n.*684A=) c.*703A= (n.*703A=) c.881A= c.1628A= (p.Lys543=) c.*661A= (n.*661A=) c.548A= (p.Lys183=) c.260A= (p.Lys87=) c.1784A= (p.Lys595=) c.1586A= (p.Lys529=) c.740A= (p.Lys247=) c.695A= (p.Lys232=) c.527A= (p.Lys176=) c.401A= (p.Lys134=) n.1993A= | |
12 | g.32611237A>C | CA384361163 | FGD4 | c.1292A>C (p.Lys431Thr) c.1547A>C (p.Lys516Thr) c.1013A>C (p.Lys338Thr) c.104A>C (p.Lys35Thr) n.799A>C c.1703A>C (p.Lys568Thr) c.*684A>C (n.*684A>C) c.*703A>C (n.*703A>C) c.881A>C c.1628A>C (p.Lys543Thr) c.*661A>C (n.*661A>C) c.548A>C (p.Lys183Thr) c.260A>C (p.Lys87Thr) c.1784A>C (p.Lys595Thr) c.1586A>C (p.Lys529Thr) c.740A>C (p.Lys247Thr) c.695A>C (p.Lys232Thr) c.527A>C (p.Lys176Thr) c.401A>C (p.Lys134Thr) n.1993A>C | gnomAD v4 |
12 | g.32611237A>G | CA384361164 | FGD4 | c.1292A>G (p.Lys431Arg) c.1547A>G (p.Lys516Arg) c.1013A>G (p.Lys338Arg) c.104A>G (p.Lys35Arg) n.799A>G c.1703A>G (p.Lys568Arg) c.*684A>G (n.*684A>G) c.*703A>G (n.*703A>G) c.881A>G c.1628A>G (p.Lys543Arg) c.*661A>G (n.*661A>G) c.548A>G (p.Lys183Arg) c.260A>G (p.Lys87Arg) c.1784A>G (p.Lys595Arg) c.1586A>G (p.Lys529Arg) c.740A>G (p.Lys247Arg) c.695A>G (p.Lys232Arg) c.527A>G (p.Lys176Arg) c.401A>G (p.Lys134Arg) n.1993A>G | |
12 | g.32611237A>T | CA384361165 | FGD4 | c.1292A>T (p.Lys431Ile) c.1547A>T (p.Lys516Ile) c.1013A>T (p.Lys338Ile) c.104A>T (p.Lys35Ile) n.799A>T c.1703A>T (p.Lys568Ile) c.*684A>T (n.*684A>T) c.*703A>T (n.*703A>T) c.881A>T c.1628A>T (p.Lys543Ile) c.*661A>T (n.*661A>T) c.548A>T (p.Lys183Ile) c.260A>T (p.Lys87Ile) c.1784A>T (p.Lys595Ile) c.1586A>T (p.Lys529Ile) c.740A>T (p.Lys247Ile) c.695A>T (p.Lys232Ile) c.527A>T (p.Lys176Ile) c.401A>T (p.Lys134Ile) n.1993A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.32611238A>C | CA384361166 | FGD4 | c.1293A>C (p.Lys431Asn) c.1548A>C (p.Lys516Asn) c.1014A>C (p.Lys338Asn) c.105A>C (p.Lys35Asn) n.800A>C c.1704A>C (p.Lys568Asn) c.*685A>C (n.*685A>C) c.*704A>C (n.*704A>C) c.882A>C c.1629A>C (p.Lys543Asn) c.*662A>C (n.*662A>C) c.549A>C (p.Lys183Asn) c.261A>C (p.Lys87Asn) c.1785A>C (p.Lys595Asn) c.1587A>C (p.Lys529Asn) c.741A>C (p.Lys247Asn) c.696A>C (p.Lys232Asn) c.528A>C (p.Lys176Asn) c.402A>C (p.Lys134Asn) n.1994A>C | |
12 | g.32611238A>G | CA479167878 | FGD4 | c.1293A>G (p.Lys431=) c.1548A>G (p.Lys516=) c.1014A>G (p.Lys338=) c.105A>G (p.Lys35=) n.800A>G c.1704A>G (p.Lys568=) c.*685A>G (n.*685A>G) c.*704A>G (n.*704A>G) c.882A>G c.1629A>G (p.Lys543=) c.*662A>G (n.*662A>G) c.549A>G (p.Lys183=) c.261A>G (p.Lys87=) c.1785A>G (p.Lys595=) c.1587A>G (p.Lys529=) c.741A>G (p.Lys247=) c.696A>G (p.Lys232=) c.528A>G (p.Lys176=) c.402A>G (p.Lys134=) n.1994A>G | |
12 | g.32611238A>T | CA384361167 | FGD4 | c.1293A>T (p.Lys431Asn) c.1548A>T (p.Lys516Asn) c.1014A>T (p.Lys338Asn) c.105A>T (p.Lys35Asn) n.800A>T c.1704A>T (p.Lys568Asn) c.*685A>T (n.*685A>T) c.*704A>T (n.*704A>T) c.882A>T c.1629A>T (p.Lys543Asn) c.*662A>T (n.*662A>T) c.549A>T (p.Lys183Asn) c.261A>T (p.Lys87Asn) c.1785A>T (p.Lys595Asn) c.1587A>T (p.Lys529Asn) c.741A>T (p.Lys247Asn) c.696A>T (p.Lys232Asn) c.528A>T (p.Lys176Asn) c.402A>T (p.Lys134Asn) n.1994A>T | |
12 | g.32611239C>A | CA384361168 | FGD4 | c.1294C>A (p.Leu432Ile) c.1549C>A (p.Leu517Ile) c.1015C>A (p.Leu339Ile) c.106C>A (p.Leu36Ile) n.801C>A c.1705C>A (p.Leu569Ile) c.*686C>A (n.*686C>A) c.*705C>A (n.*705C>A) c.883C>A c.1630C>A (p.Leu544Ile) c.*663C>A (n.*663C>A) c.550C>A (p.Leu184Ile) c.262C>A (p.Leu88Ile) c.1786C>A (p.Leu596Ile) c.1588C>A (p.Leu530Ile) c.742C>A (p.Leu248Ile) c.697C>A (p.Leu233Ile) c.529C>A (p.Leu177Ile) c.403C>A (p.Leu135Ile) n.1995C>A | |
12 | g.32611239C= | CA2026267808 | FGD4 | c.1294C= (p.Leu432=) c.1549C= (p.Leu517=) c.1015C= (p.Leu339=) c.106C= (p.Leu36=) n.801C= c.1705C= (p.Leu569=) c.*686C= (n.*686C=) c.*705C= (n.*705C=) c.883C= c.1630C= (p.Leu544=) c.*663C= (n.*663C=) c.550C= (p.Leu184=) c.262C= (p.Leu88=) c.1786C= (p.Leu596=) c.1588C= (p.Leu530=) c.742C= (p.Leu248=) c.697C= (p.Leu233=) c.529C= (p.Leu177=) c.403C= (p.Leu135=) n.1995C= | |
12 | g.32611239C>G | CA384361169 | FGD4 | c.1294C>G (p.Leu432Val) c.1549C>G (p.Leu517Val) c.1015C>G (p.Leu339Val) c.106C>G (p.Leu36Val) n.801C>G c.1705C>G (p.Leu569Val) c.*686C>G (n.*686C>G) c.*705C>G (n.*705C>G) c.883C>G c.1630C>G (p.Leu544Val) c.*663C>G (n.*663C>G) c.550C>G (p.Leu184Val) c.262C>G (p.Leu88Val) c.1786C>G (p.Leu596Val) c.1588C>G (p.Leu530Val) c.742C>G (p.Leu248Val) c.697C>G (p.Leu233Val) c.529C>G (p.Leu177Val) c.403C>G (p.Leu135Val) n.1995C>G | dbSNP |
12 | g.32611239C>T | CA235216107 | FGD4 | c.1294C>T (p.Leu432=) c.1549C>T (p.Leu517=) c.1015C>T (p.Leu339=) c.106C>T (p.Leu36=) n.801C>T c.1705C>T (p.Leu569=) c.*686C>T (n.*686C>T) c.*705C>T (n.*705C>T) c.883C>T c.1630C>T (p.Leu544=) c.*663C>T (n.*663C>T) c.550C>T (p.Leu184=) c.262C>T (p.Leu88=) c.1786C>T (p.Leu596=) c.1588C>T (p.Leu530=) c.742C>T (p.Leu248=) c.697C>T (p.Leu233=) c.529C>T (p.Leu177=) c.403C>T (p.Leu135=) n.1995C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611240T>A | CA384361170 | FGD4 | c.1295T>A (p.Leu432Gln) c.1550T>A (p.Leu517Gln) c.1016T>A (p.Leu339Gln) c.107T>A (p.Leu36Gln) n.802T>A c.1706T>A (p.Leu569Gln) c.*687T>A (n.*687T>A) c.*706T>A (n.*706T>A) c.884T>A c.1631T>A (p.Leu544Gln) c.*664T>A (n.*664T>A) c.551T>A (p.Leu184Gln) c.263T>A (p.Leu88Gln) c.1787T>A (p.Leu596Gln) c.1589T>A (p.Leu530Gln) c.743T>A (p.Leu248Gln) c.698T>A (p.Leu233Gln) c.530T>A (p.Leu177Gln) c.404T>A (p.Leu135Gln) n.1996T>A | |
12 | g.32611240T>C | CA384361172 | FGD4 | c.1295T>C (p.Leu432Pro) c.1550T>C (p.Leu517Pro) c.1016T>C (p.Leu339Pro) c.107T>C (p.Leu36Pro) n.802T>C c.1706T>C (p.Leu569Pro) c.*687T>C (n.*687T>C) c.*706T>C (n.*706T>C) c.884T>C c.1631T>C (p.Leu544Pro) c.*664T>C (n.*664T>C) c.551T>C (p.Leu184Pro) c.263T>C (p.Leu88Pro) c.1787T>C (p.Leu596Pro) c.1589T>C (p.Leu530Pro) c.743T>C (p.Leu248Pro) c.698T>C (p.Leu233Pro) c.530T>C (p.Leu177Pro) c.404T>C (p.Leu135Pro) n.1996T>C | gnomAD v4 |
12 | g.32611240T>G | CA384361171 | FGD4 | c.1295T>G (p.Leu432Arg) c.1550T>G (p.Leu517Arg) c.1016T>G (p.Leu339Arg) c.107T>G (p.Leu36Arg) n.802T>G c.1706T>G (p.Leu569Arg) c.*687T>G (n.*687T>G) c.*706T>G (n.*706T>G) c.884T>G c.1631T>G (p.Leu544Arg) c.*664T>G (n.*664T>G) c.551T>G (p.Leu184Arg) c.263T>G (p.Leu88Arg) c.1787T>G (p.Leu596Arg) c.1589T>G (p.Leu530Arg) c.743T>G (p.Leu248Arg) c.698T>G (p.Leu233Arg) c.530T>G (p.Leu177Arg) c.404T>G (p.Leu135Arg) n.1996T>G | |
12 | g.32611241A= | CA2026267809 | FGD4 | c.1296A= (p.Leu432=) c.1551A= (p.Leu517=) c.1017A= (p.Leu339=) c.108A= (p.Leu36=) n.803A= c.1707A= (p.Leu569=) c.*688A= (n.*688A=) c.*707A= (n.*707A=) c.885A= c.1632A= (p.Leu544=) c.*665A= (n.*665A=) c.552A= (p.Leu184=) c.264A= (p.Leu88=) c.1788A= (p.Leu596=) c.1590A= (p.Leu530=) c.744A= (p.Leu248=) c.699A= (p.Leu233=) c.531A= (p.Leu177=) c.405A= (p.Leu135=) n.1997A= | |
12 | g.32611241A>C | CA479167880 | FGD4 | c.1296A>C (p.Leu432=) c.1551A>C (p.Leu517=) c.1017A>C (p.Leu339=) c.108A>C (p.Leu36=) n.803A>C c.1707A>C (p.Leu569=) c.*688A>C (n.*688A>C) c.*707A>C (n.*707A>C) c.885A>C c.1632A>C (p.Leu544=) c.*665A>C (n.*665A>C) c.552A>C (p.Leu184=) c.264A>C (p.Leu88=) c.1788A>C (p.Leu596=) c.1590A>C (p.Leu530=) c.744A>C (p.Leu248=) c.699A>C (p.Leu233=) c.531A>C (p.Leu177=) c.405A>C (p.Leu135=) n.1997A>C | |
12 | g.32611241A>G | CA6506858 | FGD4 | c.1296A>G (p.Leu432=) c.1551A>G (p.Leu517=) c.1017A>G (p.Leu339=) c.108A>G (p.Leu36=) n.803A>G c.1707A>G (p.Leu569=) c.*688A>G (n.*688A>G) c.*707A>G (n.*707A>G) c.885A>G c.1632A>G (p.Leu544=) c.*665A>G (n.*665A>G) c.552A>G (p.Leu184=) c.264A>G (p.Leu88=) c.1788A>G (p.Leu596=) c.1590A>G (p.Leu530=) c.744A>G (p.Leu248=) c.699A>G (p.Leu233=) c.531A>G (p.Leu177=) c.405A>G (p.Leu135=) n.1997A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611241A>T | CA479167879 | FGD4 | c.1296A>T (p.Leu432=) c.1551A>T (p.Leu517=) c.1017A>T (p.Leu339=) c.108A>T (p.Leu36=) n.803A>T c.1707A>T (p.Leu569=) c.*688A>T (n.*688A>T) c.*707A>T (n.*707A>T) c.885A>T c.1632A>T (p.Leu544=) c.*665A>T (n.*665A>T) c.552A>T (p.Leu184=) c.264A>T (p.Leu88=) c.1788A>T (p.Leu596=) c.1590A>T (p.Leu530=) c.744A>T (p.Leu248=) c.699A>T (p.Leu233=) c.531A>T (p.Leu177=) c.405A>T (p.Leu135=) n.1997A>T | |
12 | g.32611242G>A | CA384361173 | FGD4 | c.1297G>A (p.Ala433Thr) c.1552G>A (p.Ala518Thr) c.1018G>A (p.Ala340Thr) c.109G>A (p.Ala37Thr) n.804G>A c.1708G>A (p.Ala570Thr) c.*689G>A (n.*689G>A) c.*708G>A (n.*708G>A) c.886G>A c.1633G>A (p.Ala545Thr) c.*666G>A (n.*666G>A) c.553G>A (p.Ala185Thr) c.265G>A (p.Ala89Thr) c.1789G>A (p.Ala597Thr) c.1591G>A (p.Ala531Thr) c.745G>A (p.Ala249Thr) c.700G>A (p.Ala234Thr) c.532G>A (p.Ala178Thr) c.406G>A (p.Ala136Thr) n.1998G>A | |
12 | g.32611242G>C | CA384361174 | FGD4 | c.1297G>C (p.Ala433Pro) c.1552G>C (p.Ala518Pro) c.1018G>C (p.Ala340Pro) c.109G>C (p.Ala37Pro) n.804G>C c.1708G>C (p.Ala570Pro) c.*689G>C (n.*689G>C) c.*708G>C (n.*708G>C) c.886G>C c.1633G>C (p.Ala545Pro) c.*666G>C (n.*666G>C) c.553G>C (p.Ala185Pro) c.265G>C (p.Ala89Pro) c.1789G>C (p.Ala597Pro) c.1591G>C (p.Ala531Pro) c.745G>C (p.Ala249Pro) c.700G>C (p.Ala234Pro) c.532G>C (p.Ala178Pro) c.406G>C (p.Ala136Pro) n.1998G>C | |
12 | g.32611242G>T | CA384361175 | FGD4 | c.1297G>T (p.Ala433Ser) c.1552G>T (p.Ala518Ser) c.1018G>T (p.Ala340Ser) c.109G>T (p.Ala37Ser) n.804G>T c.1708G>T (p.Ala570Ser) c.*689G>T (n.*689G>T) c.*708G>T (n.*708G>T) c.886G>T c.1633G>T (p.Ala545Ser) c.*666G>T (n.*666G>T) c.553G>T (p.Ala185Ser) c.265G>T (p.Ala89Ser) c.1789G>T (p.Ala597Ser) c.1591G>T (p.Ala531Ser) c.745G>T (p.Ala249Ser) c.700G>T (p.Ala234Ser) c.532G>T (p.Ala178Ser) c.406G>T (p.Ala136Ser) n.1998G>T | |
12 | g.32611243C>A | CA384361178 | FGD4 | c.1298C>A (p.Ala433Asp) c.1553C>A (p.Ala518Asp) c.1019C>A (p.Ala340Asp) c.110C>A (p.Ala37Asp) n.805C>A c.1709C>A (p.Ala570Asp) c.*690C>A (n.*690C>A) c.*709C>A (n.*709C>A) c.887C>A c.1634C>A (p.Ala545Asp) c.*667C>A (n.*667C>A) c.554C>A (p.Ala185Asp) c.266C>A (p.Ala89Asp) c.1790C>A (p.Ala597Asp) c.1592C>A (p.Ala531Asp) c.746C>A (p.Ala249Asp) c.701C>A (p.Ala234Asp) c.533C>A (p.Ala178Asp) c.407C>A (p.Ala136Asp) n.1999C>A | |
12 | g.32611243C>G | CA384361176 | FGD4 | c.1298C>G (p.Ala433Gly) c.1553C>G (p.Ala518Gly) c.1019C>G (p.Ala340Gly) c.110C>G (p.Ala37Gly) n.805C>G c.1709C>G (p.Ala570Gly) c.*690C>G (n.*690C>G) c.*709C>G (n.*709C>G) c.887C>G c.1634C>G (p.Ala545Gly) c.*667C>G (n.*667C>G) c.554C>G (p.Ala185Gly) c.266C>G (p.Ala89Gly) c.1790C>G (p.Ala597Gly) c.1592C>G (p.Ala531Gly) c.746C>G (p.Ala249Gly) c.701C>G (p.Ala234Gly) c.533C>G (p.Ala178Gly) c.407C>G (p.Ala136Gly) n.1999C>G | |
12 | g.32611243C>T | CA384361177 | FGD4 | c.1298C>T (p.Ala433Val) c.1553C>T (p.Ala518Val) c.1019C>T (p.Ala340Val) c.110C>T (p.Ala37Val) n.805C>T c.1709C>T (p.Ala570Val) c.*690C>T (n.*690C>T) c.*709C>T (n.*709C>T) c.887C>T c.1634C>T (p.Ala545Val) c.*667C>T (n.*667C>T) c.554C>T (p.Ala185Val) c.266C>T (p.Ala89Val) c.1790C>T (p.Ala597Val) c.1592C>T (p.Ala531Val) c.746C>T (p.Ala249Val) c.701C>T (p.Ala234Val) c.533C>T (p.Ala178Val) c.407C>T (p.Ala136Val) n.1999C>T |