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.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 | |
12 | g.32611244T>A | CA479167881 | FGD4 | c.1299T>A (p.Ala433=) c.1554T>A (p.Ala518=) c.1020T>A (p.Ala340=) c.111T>A (p.Ala37=) n.806T>A c.1710T>A (p.Ala570=) c.*691T>A (n.*691T>A) c.*710T>A (n.*710T>A) c.888T>A c.1635T>A (p.Ala545=) c.*668T>A (n.*668T>A) c.555T>A (p.Ala185=) c.267T>A (p.Ala89=) c.1791T>A (p.Ala597=) c.1593T>A (p.Ala531=) c.747T>A (p.Ala249=) c.702T>A (p.Ala234=) c.534T>A (p.Ala178=) c.408T>A (p.Ala136=) n.2000T>A | |
12 | g.32611244T>C | CA479167882 | FGD4 | c.1299T>C (p.Ala433=) c.1554T>C (p.Ala518=) c.1020T>C (p.Ala340=) c.111T>C (p.Ala37=) n.806T>C c.1710T>C (p.Ala570=) c.*691T>C (n.*691T>C) c.*710T>C (n.*710T>C) c.888T>C c.1635T>C (p.Ala545=) c.*668T>C (n.*668T>C) c.555T>C (p.Ala185=) c.267T>C (p.Ala89=) c.1791T>C (p.Ala597=) c.1593T>C (p.Ala531=) c.747T>C (p.Ala249=) c.702T>C (p.Ala234=) c.534T>C (p.Ala178=) c.408T>C (p.Ala136=) n.2000T>C | dbSNP |
12 | g.32611244T>G | CA479167883 | FGD4 | c.1299T>G (p.Ala433=) c.1554T>G (p.Ala518=) c.1020T>G (p.Ala340=) c.111T>G (p.Ala37=) n.806T>G c.1710T>G (p.Ala570=) c.*691T>G (n.*691T>G) c.*710T>G (n.*710T>G) c.888T>G c.1635T>G (p.Ala545=) c.*668T>G (n.*668T>G) c.555T>G (p.Ala185=) c.267T>G (p.Ala89=) c.1791T>G (p.Ala597=) c.1593T>G (p.Ala531=) c.747T>G (p.Ala249=) c.702T>G (p.Ala234=) c.534T>G (p.Ala178=) c.408T>G (p.Ala136=) n.2000T>G | |
12 | g.32611244T= | CA2026267810 | FGD4 | c.1299T= (p.Ala433=) c.1554T= (p.Ala518=) c.1020T= (p.Ala340=) c.111T= (p.Ala37=) n.806T= c.1710T= (p.Ala570=) c.*691T= (n.*691T=) c.*710T= (n.*710T=) c.888T= c.1635T= (p.Ala545=) c.*668T= (n.*668T=) c.555T= (p.Ala185=) c.267T= (p.Ala89=) c.1791T= (p.Ala597=) c.1593T= (p.Ala531=) c.747T= (p.Ala249=) c.702T= (p.Ala234=) c.534T= (p.Ala178=) c.408T= (p.Ala136=) n.2000T= | |
12 | g.32611245G>A | CA384361179 | FGD4 | c.1300G>A (p.Ala434Thr) c.1555G>A (p.Ala519Thr) c.1021G>A (p.Ala341Thr) c.112G>A (p.Ala38Thr) n.807G>A c.1711G>A (p.Ala571Thr) c.*692G>A (n.*692G>A) c.*711G>A (n.*711G>A) c.889G>A c.1636G>A (p.Ala546Thr) c.*669G>A (n.*669G>A) c.556G>A (p.Ala186Thr) c.268G>A (p.Ala90Thr) c.1792G>A (p.Ala598Thr) c.1594G>A (p.Ala532Thr) c.748G>A (p.Ala250Thr) c.703G>A (p.Ala235Thr) c.535G>A (p.Ala179Thr) c.409G>A (p.Ala137Thr) n.2001G>A | |
12 | g.32611245G>C | CA384361180 | FGD4 | c.1300G>C (p.Ala434Pro) c.1555G>C (p.Ala519Pro) c.1021G>C (p.Ala341Pro) c.112G>C (p.Ala38Pro) n.807G>C c.1711G>C (p.Ala571Pro) c.*692G>C (n.*692G>C) c.*711G>C (n.*711G>C) c.889G>C c.1636G>C (p.Ala546Pro) c.*669G>C (n.*669G>C) c.556G>C (p.Ala186Pro) c.268G>C (p.Ala90Pro) c.1792G>C (p.Ala598Pro) c.1594G>C (p.Ala532Pro) c.748G>C (p.Ala250Pro) c.703G>C (p.Ala235Pro) c.535G>C (p.Ala179Pro) c.409G>C (p.Ala137Pro) n.2001G>C | gnomAD v4 |
12 | g.32611245G>T | CA384361181 | FGD4 | c.1300G>T (p.Ala434Ser) c.1555G>T (p.Ala519Ser) c.1021G>T (p.Ala341Ser) c.112G>T (p.Ala38Ser) n.807G>T c.1711G>T (p.Ala571Ser) c.*692G>T (n.*692G>T) c.*711G>T (n.*711G>T) c.889G>T c.1636G>T (p.Ala546Ser) c.*669G>T (n.*669G>T) c.556G>T (p.Ala186Ser) c.268G>T (p.Ala90Ser) c.1792G>T (p.Ala598Ser) c.1594G>T (p.Ala532Ser) c.748G>T (p.Ala250Ser) c.703G>T (p.Ala235Ser) c.535G>T (p.Ala179Ser) c.409G>T (p.Ala137Ser) n.2001G>T | |
12 | g.32611246C>A | CA384361182 | FGD4 | c.1301C>A (p.Ala434Asp) c.1556C>A (p.Ala519Asp) c.1022C>A (p.Ala341Asp) c.113C>A (p.Ala38Asp) n.808C>A c.1712C>A (p.Ala571Asp) c.*693C>A (n.*693C>A) c.*712C>A (n.*712C>A) c.890C>A c.1637C>A (p.Ala546Asp) c.*670C>A (n.*670C>A) c.557C>A (p.Ala186Asp) c.269C>A (p.Ala90Asp) c.1793C>A (p.Ala598Asp) c.1595C>A (p.Ala532Asp) c.749C>A (p.Ala250Asp) c.704C>A (p.Ala235Asp) c.536C>A (p.Ala179Asp) c.410C>A (p.Ala137Asp) n.2002C>A | |
12 | g.32611246C= | CA2026267811 | FGD4 | c.1301C= (p.Ala434=) c.1556C= (p.Ala519=) c.1022C= (p.Ala341=) c.113C= (p.Ala38=) n.808C= c.1712C= (p.Ala571=) c.*693C= (n.*693C=) c.*712C= (n.*712C=) c.890C= c.1637C= (p.Ala546=) c.*670C= (n.*670C=) c.557C= (p.Ala186=) c.269C= (p.Ala90=) c.1793C= (p.Ala598=) c.1595C= (p.Ala532=) c.749C= (p.Ala250=) c.704C= (p.Ala235=) c.536C= (p.Ala179=) c.410C= (p.Ala137=) n.2002C= | |
12 | g.32611246C>G | CA384361183 | FGD4 | c.1301C>G (p.Ala434Gly) c.1556C>G (p.Ala519Gly) c.1022C>G (p.Ala341Gly) c.113C>G (p.Ala38Gly) n.808C>G c.1712C>G (p.Ala571Gly) c.*693C>G (n.*693C>G) c.*712C>G (n.*712C>G) c.890C>G c.1637C>G (p.Ala546Gly) c.*670C>G (n.*670C>G) c.557C>G (p.Ala186Gly) c.269C>G (p.Ala90Gly) c.1793C>G (p.Ala598Gly) c.1595C>G (p.Ala532Gly) c.749C>G (p.Ala250Gly) c.704C>G (p.Ala235Gly) c.536C>G (p.Ala179Gly) c.410C>G (p.Ala137Gly) n.2002C>G | dbSNP |
12 | g.32611246C>T | CA384361184 | FGD4 | c.1301C>T (p.Ala434Val) c.1556C>T (p.Ala519Val) c.1022C>T (p.Ala341Val) c.113C>T (p.Ala38Val) n.808C>T c.1712C>T (p.Ala571Val) c.*693C>T (n.*693C>T) c.*712C>T (n.*712C>T) c.890C>T c.1637C>T (p.Ala546Val) c.*670C>T (n.*670C>T) c.557C>T (p.Ala186Val) c.269C>T (p.Ala90Val) c.1793C>T (p.Ala598Val) c.1595C>T (p.Ala532Val) c.749C>T (p.Ala250Val) c.704C>T (p.Ala235Val) c.536C>T (p.Ala179Val) c.410C>T (p.Ala137Val) n.2002C>T | |
12 | g.32611247T>A | CA479167884 | FGD4 | c.1302T>A (p.Ala434=) c.1557T>A (p.Ala519=) c.1023T>A (p.Ala341=) c.114T>A (p.Ala38=) n.809T>A c.1713T>A (p.Ala571=) c.*694T>A (n.*694T>A) c.*713T>A (n.*713T>A) c.891T>A c.1638T>A (p.Ala546=) c.*671T>A (n.*671T>A) c.558T>A (p.Ala186=) c.270T>A (p.Ala90=) c.1794T>A (p.Ala598=) c.1596T>A (p.Ala532=) c.750T>A (p.Ala250=) c.705T>A (p.Ala235=) c.537T>A (p.Ala179=) c.411T>A (p.Ala137=) n.2003T>A | |
12 | g.32611247T>C | CA479167885 | FGD4 | c.1302T>C (p.Ala434=) c.1557T>C (p.Ala519=) c.1023T>C (p.Ala341=) c.114T>C (p.Ala38=) n.809T>C c.1713T>C (p.Ala571=) c.*694T>C (n.*694T>C) c.*713T>C (n.*713T>C) c.891T>C c.1638T>C (p.Ala546=) c.*671T>C (n.*671T>C) c.558T>C (p.Ala186=) c.270T>C (p.Ala90=) c.1794T>C (p.Ala598=) c.1596T>C (p.Ala532=) c.750T>C (p.Ala250=) c.705T>C (p.Ala235=) c.537T>C (p.Ala179=) c.411T>C (p.Ala137=) n.2003T>C | |
12 | g.32611247T>G | CA479167886 | FGD4 | c.1302T>G (p.Ala434=) c.1557T>G (p.Ala519=) c.1023T>G (p.Ala341=) c.114T>G (p.Ala38=) n.809T>G c.1713T>G (p.Ala571=) c.*694T>G (n.*694T>G) c.*713T>G (n.*713T>G) c.891T>G c.1638T>G (p.Ala546=) c.*671T>G (n.*671T>G) c.558T>G (p.Ala186=) c.270T>G (p.Ala90=) c.1794T>G (p.Ala598=) c.1596T>G (p.Ala532=) c.750T>G (p.Ala250=) c.705T>G (p.Ala235=) c.537T>G (p.Ala179=) c.411T>G (p.Ala137=) n.2003T>G | gnomAD v3 gnomAD v4 |
12 | g.32611248C>A | CA479167887 | FGD4 | c.1303C>A (p.Arg435=) c.1558C>A (p.Arg520=) c.1024C>A (p.Arg342=) c.115C>A (p.Arg39=) n.810C>A c.1714C>A (p.Arg572=) c.*695C>A (n.*695C>A) c.*714C>A (n.*714C>A) c.892C>A c.1639C>A (p.Arg547=) c.*672C>A (n.*672C>A) c.559C>A (p.Arg187=) c.271C>A (p.Arg91=) c.1795C>A (p.Arg599=) c.1597C>A (p.Arg533=) c.751C>A (p.Arg251=) c.706C>A (p.Arg236=) c.538C>A (p.Arg180=) c.412C>A (p.Arg138=) n.2004C>A | gnomAD v4 |
12 | g.32611248C= | CA2026267812 | FGD4 | c.1303C= (p.Arg435=) c.1558C= (p.Arg520=) c.1024C= (p.Arg342=) c.115C= (p.Arg39=) n.810C= c.1714C= (p.Arg572=) c.*695C= (n.*695C=) c.*714C= (n.*714C=) c.892C= c.1639C= (p.Arg547=) c.*672C= (n.*672C=) c.559C= (p.Arg187=) c.271C= (p.Arg91=) c.1795C= (p.Arg599=) c.1597C= (p.Arg533=) c.751C= (p.Arg251=) c.706C= (p.Arg236=) c.538C= (p.Arg180=) c.412C= (p.Arg138=) n.2004C= | |
12 | g.32611248C>G | CA384361185 | FGD4 | c.1303C>G (p.Arg435Gly) c.1558C>G (p.Arg520Gly) c.1024C>G (p.Arg342Gly) c.115C>G (p.Arg39Gly) n.810C>G c.1714C>G (p.Arg572Gly) c.*695C>G (n.*695C>G) c.*714C>G (n.*714C>G) c.892C>G c.1639C>G (p.Arg547Gly) c.*672C>G (n.*672C>G) c.559C>G (p.Arg187Gly) c.271C>G (p.Arg91Gly) c.1795C>G (p.Arg599Gly) c.1597C>G (p.Arg533Gly) c.751C>G (p.Arg251Gly) c.706C>G (p.Arg236Gly) c.538C>G (p.Arg180Gly) c.412C>G (p.Arg138Gly) n.2004C>G | |
12 | g.32611248C>T | CA235216113 | FGD4 | c.1303C>T (p.Arg435Trp) c.1558C>T (p.Arg520Trp) c.1024C>T (p.Arg342Trp) c.115C>T (p.Arg39Trp) n.810C>T c.1714C>T (p.Arg572Trp) c.*695C>T (n.*695C>T) c.*714C>T (n.*714C>T) c.892C>T c.1639C>T (p.Arg547Trp) c.*672C>T (n.*672C>T) c.559C>T (p.Arg187Trp) c.271C>T (p.Arg91Trp) c.1795C>T (p.Arg599Trp) c.1597C>T (p.Arg533Trp) c.751C>T (p.Arg251Trp) c.706C>T (p.Arg236Trp) c.538C>T (p.Arg180Trp) c.412C>T (p.Arg138Trp) n.2004C>T | dbSNP gnomAD v4 COSMIC |
12 | g.32611249G>A | CA6506859 | FGD4 | c.1304G>A (p.Arg435Gln) c.1559G>A (p.Arg520Gln) c.1025G>A (p.Arg342Gln) c.116G>A (p.Arg39Gln) n.811G>A c.1715G>A (p.Arg572Gln) c.*696G>A (n.*696G>A) c.*715G>A (n.*715G>A) c.893G>A c.1640G>A (p.Arg547Gln) c.*673G>A (n.*673G>A) c.560G>A (p.Arg187Gln) c.272G>A (p.Arg91Gln) c.1796G>A (p.Arg599Gln) c.1598G>A (p.Arg533Gln) c.752G>A (p.Arg251Gln) c.707G>A (p.Arg236Gln) c.539G>A (p.Arg180Gln) c.413G>A (p.Arg138Gln) n.2005G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.32611249G>C | CA384361186 | FGD4 | c.1304G>C (p.Arg435Pro) c.1559G>C (p.Arg520Pro) c.1025G>C (p.Arg342Pro) c.116G>C (p.Arg39Pro) n.811G>C c.1715G>C (p.Arg572Pro) c.*696G>C (n.*696G>C) c.*715G>C (n.*715G>C) c.893G>C c.1640G>C (p.Arg547Pro) c.*673G>C (n.*673G>C) c.560G>C (p.Arg187Pro) c.272G>C (p.Arg91Pro) c.1796G>C (p.Arg599Pro) c.1598G>C (p.Arg533Pro) c.752G>C (p.Arg251Pro) c.707G>C (p.Arg236Pro) c.539G>C (p.Arg180Pro) c.413G>C (p.Arg138Pro) n.2005G>C | |
12 | g.32611249G= | CA2026267813 | FGD4 | c.1304G= (p.Arg435=) c.1559G= (p.Arg520=) c.1025G= (p.Arg342=) c.116G= (p.Arg39=) n.811G= c.1715G= (p.Arg572=) c.*696G= (n.*696G=) c.*715G= (n.*715G=) c.893G= c.1640G= (p.Arg547=) c.*673G= (n.*673G=) c.560G= (p.Arg187=) c.272G= (p.Arg91=) c.1796G= (p.Arg599=) c.1598G= (p.Arg533=) c.752G= (p.Arg251=) c.707G= (p.Arg236=) c.539G= (p.Arg180=) c.413G= (p.Arg138=) n.2005G= | |
12 | g.32611249G>T | CA384361187 | FGD4 | c.1304G>T (p.Arg435Leu) c.1559G>T (p.Arg520Leu) c.1025G>T (p.Arg342Leu) c.116G>T (p.Arg39Leu) n.811G>T c.1715G>T (p.Arg572Leu) c.*696G>T (n.*696G>T) c.*715G>T (n.*715G>T) c.893G>T c.1640G>T (p.Arg547Leu) c.*673G>T (n.*673G>T) c.560G>T (p.Arg187Leu) c.272G>T (p.Arg91Leu) c.1796G>T (p.Arg599Leu) c.1598G>T (p.Arg533Leu) c.752G>T (p.Arg251Leu) c.707G>T (p.Arg236Leu) c.539G>T (p.Arg180Leu) c.413G>T (p.Arg138Leu) n.2005G>T | |
12 | g.32611249_32611250delinsAA | CA2695216222 | FGD4 | c.1304_1305delinsAA (p.Arg435Gln) c.1559_1560delinsAA (p.Arg520Gln) c.1025_1026delinsAA (p.Arg342Gln) c.116_117delinsAA (p.Arg39Gln) n.811_812delinsAA c.1715_1716delinsAA (p.Arg572Gln) c.*696_*697delinsAA (n.*696_*697delinsAA) c.*715_*716delinsAA (n.*715_*716delinsAA) c.893_894delinsAA c.1640_1641delinsAA (p.Arg547Gln) c.*673_*674delinsAA (n.*673_*674delinsAA) c.560_561delinsAA (p.Arg187Gln) c.272_273delinsAA (p.Arg91Gln) c.1796_1797delinsAA (p.Arg599Gln) c.1598_1599delinsAA (p.Arg533Gln) c.752_753delinsAA (p.Arg251Gln) c.707_708delinsAA (p.Arg236Gln) c.539_540delinsAA (p.Arg180Gln) c.413_414delinsAA (p.Arg138Gln) n.2005_2006delinsAA | |
12 | g.32611250G>A | CA290926 | FGD4 | c.1305G>A (p.Arg435=) c.1560G>A (p.Arg520=) c.1026G>A (p.Arg342=) c.117G>A (p.Arg39=) n.812G>A c.1716G>A (p.Arg572=) c.*697G>A (n.*697G>A) c.*716G>A (n.*716G>A) c.894G>A c.1641G>A (p.Arg547=) c.*674G>A (n.*674G>A) c.561G>A (p.Arg187=) c.273G>A (p.Arg91=) c.1797G>A (p.Arg599=) c.1599G>A (p.Arg533=) c.753G>A (p.Arg251=) c.708G>A (p.Arg236=) c.540G>A (p.Arg180=) c.414G>A (p.Arg138=) n.2006G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.32611250G>C | CA479167888 | FGD4 | c.1305G>C (p.Arg435=) c.1560G>C (p.Arg520=) c.1026G>C (p.Arg342=) c.117G>C (p.Arg39=) n.812G>C c.1716G>C (p.Arg572=) c.*697G>C (n.*697G>C) c.*716G>C (n.*716G>C) c.894G>C c.1641G>C (p.Arg547=) c.*674G>C (n.*674G>C) c.561G>C (p.Arg187=) c.273G>C (p.Arg91=) c.1797G>C (p.Arg599=) c.1599G>C (p.Arg533=) c.753G>C (p.Arg251=) c.708G>C (p.Arg236=) c.540G>C (p.Arg180=) c.414G>C (p.Arg138=) n.2006G>C | |
12 | g.32611250G= | CA2026267814 | FGD4 | c.1305G= (p.Arg435=) c.1560G= (p.Arg520=) c.1026G= (p.Arg342=) c.117G= (p.Arg39=) n.812G= c.1716G= (p.Arg572=) c.*697G= (n.*697G=) c.*716G= (n.*716G=) c.894G= c.1641G= (p.Arg547=) c.*674G= (n.*674G=) c.561G= (p.Arg187=) c.273G= (p.Arg91=) c.1797G= (p.Arg599=) c.1599G= (p.Arg533=) c.753G= (p.Arg251=) c.708G= (p.Arg236=) c.540G= (p.Arg180=) c.414G= (p.Arg138=) n.2006G= | |
12 | g.32611250G>T | CA479167889 | FGD4 | c.1305G>T (p.Arg435=) c.1560G>T (p.Arg520=) c.1026G>T (p.Arg342=) c.117G>T (p.Arg39=) n.812G>T c.1716G>T (p.Arg572=) c.*697G>T (n.*697G>T) c.*716G>T (n.*716G>T) c.894G>T c.1641G>T (p.Arg547=) c.*674G>T (n.*674G>T) c.561G>T (p.Arg187=) c.273G>T (p.Arg91=) c.1797G>T (p.Arg599=) c.1599G>T (p.Arg533=) c.753G>T (p.Arg251=) c.708G>T (p.Arg236=) c.540G>T (p.Arg180=) c.414G>T (p.Arg138=) n.2006G>T | |
12 | g.32611251A= | CA2026267815 | FGD4 | c.1306A= (p.Asn436=) c.1561A= (p.Asn521=) c.1027A= (p.Asn343=) c.118A= (p.Asn40=) n.813A= c.1717A= (p.Asn573=) c.*698A= (n.*698A=) c.*717A= (n.*717A=) c.895A= c.1642A= (p.Asn548=) c.*675A= (n.*675A=) c.562A= (p.Asn188=) c.274A= (p.Asn92=) c.1798A= (p.Asn600=) c.1600A= (p.Asn534=) c.754A= (p.Asn252=) c.709A= (p.Asn237=) c.541A= (p.Asn181=) c.415A= (p.Asn139=) n.2007A= | |
12 | g.32611251A>C | CA384361188 | FGD4 | c.1306A>C (p.Asn436His) c.1561A>C (p.Asn521His) c.1027A>C (p.Asn343His) c.118A>C (p.Asn40His) n.813A>C c.1717A>C (p.Asn573His) c.*698A>C (n.*698A>C) c.*717A>C (n.*717A>C) c.895A>C c.1642A>C (p.Asn548His) c.*675A>C (n.*675A>C) c.562A>C (p.Asn188His) c.274A>C (p.Asn92His) c.1798A>C (p.Asn600His) c.1600A>C (p.Asn534His) c.754A>C (p.Asn252His) c.709A>C (p.Asn237His) c.541A>C (p.Asn181His) c.415A>C (p.Asn139His) n.2007A>C | |
12 | g.32611251A>G | CA384361190 | FGD4 | c.1306A>G (p.Asn436Asp) c.1561A>G (p.Asn521Asp) c.1027A>G (p.Asn343Asp) c.118A>G (p.Asn40Asp) n.813A>G c.1717A>G (p.Asn573Asp) c.*698A>G (n.*698A>G) c.*717A>G (n.*717A>G) c.895A>G c.1642A>G (p.Asn548Asp) c.*675A>G (n.*675A>G) c.562A>G (p.Asn188Asp) c.274A>G (p.Asn92Asp) c.1798A>G (p.Asn600Asp) c.1600A>G (p.Asn534Asp) c.754A>G (p.Asn252Asp) c.709A>G (p.Asn237Asp) c.541A>G (p.Asn181Asp) c.415A>G (p.Asn139Asp) n.2007A>G | dbSNP |
12 | g.32611251A>T | CA384361189 | FGD4 | c.1306A>T (p.Asn436Tyr) c.1561A>T (p.Asn521Tyr) c.1027A>T (p.Asn343Tyr) c.118A>T (p.Asn40Tyr) n.813A>T c.1717A>T (p.Asn573Tyr) c.*698A>T (n.*698A>T) c.*717A>T (n.*717A>T) c.895A>T c.1642A>T (p.Asn548Tyr) c.*675A>T (n.*675A>T) c.562A>T (p.Asn188Tyr) c.274A>T (p.Asn92Tyr) c.1798A>T (p.Asn600Tyr) c.1600A>T (p.Asn534Tyr) c.754A>T (p.Asn252Tyr) c.709A>T (p.Asn237Tyr) c.541A>T (p.Asn181Tyr) c.415A>T (p.Asn139Tyr) n.2007A>T | |
12 | g.32611252A>C | CA384361191 | FGD4 | c.1307A>C (p.Asn436Thr) c.1562A>C (p.Asn521Thr) c.1028A>C (p.Asn343Thr) c.119A>C (p.Asn40Thr) n.814A>C c.1718A>C (p.Asn573Thr) c.*699A>C (n.*699A>C) c.*718A>C (n.*718A>C) c.896A>C c.1643A>C (p.Asn548Thr) c.*676A>C (n.*676A>C) c.563A>C (p.Asn188Thr) c.275A>C (p.Asn92Thr) c.1799A>C (p.Asn600Thr) c.1601A>C (p.Asn534Thr) c.755A>C (p.Asn252Thr) c.710A>C (p.Asn237Thr) c.542A>C (p.Asn181Thr) c.416A>C (p.Asn139Thr) n.2008A>C | gnomAD v4 |
12 | g.32611252A>G | CA384361193 | FGD4 | c.1307A>G (p.Asn436Ser) c.1562A>G (p.Asn521Ser) c.1028A>G (p.Asn343Ser) c.119A>G (p.Asn40Ser) n.814A>G c.1718A>G (p.Asn573Ser) c.*699A>G (n.*699A>G) c.*718A>G (n.*718A>G) c.896A>G c.1643A>G (p.Asn548Ser) c.*676A>G (n.*676A>G) c.563A>G (p.Asn188Ser) c.275A>G (p.Asn92Ser) c.1799A>G (p.Asn600Ser) c.1601A>G (p.Asn534Ser) c.755A>G (p.Asn252Ser) c.710A>G (p.Asn237Ser) c.542A>G (p.Asn181Ser) c.416A>G (p.Asn139Ser) n.2008A>G | |
12 | g.32611252A>T | CA384361192 | FGD4 | c.1307A>T (p.Asn436Ile) c.1562A>T (p.Asn521Ile) c.1028A>T (p.Asn343Ile) c.119A>T (p.Asn40Ile) n.814A>T c.1718A>T (p.Asn573Ile) c.*699A>T (n.*699A>T) c.*718A>T (n.*718A>T) c.896A>T c.1643A>T (p.Asn548Ile) c.*676A>T (n.*676A>T) c.563A>T (p.Asn188Ile) c.275A>T (p.Asn92Ile) c.1799A>T (p.Asn600Ile) c.1601A>T (p.Asn534Ile) c.755A>T (p.Asn252Ile) c.710A>T (p.Asn237Ile) c.542A>T (p.Asn181Ile) c.416A>T (p.Asn139Ile) n.2008A>T | |
12 | g.32611253C>A | CA384361194 | FGD4 | c.1308C>A (p.Asn436Lys) c.1563C>A (p.Asn521Lys) c.1029C>A (p.Asn343Lys) c.120C>A (p.Asn40Lys) n.815C>A c.1719C>A (p.Asn573Lys) c.*700C>A (n.*700C>A) c.*719C>A (n.*719C>A) c.897C>A c.1644C>A (p.Asn548Lys) c.*677C>A (n.*677C>A) c.564C>A (p.Asn188Lys) c.276C>A (p.Asn92Lys) c.1800C>A (p.Asn600Lys) c.1602C>A (p.Asn534Lys) c.756C>A (p.Asn252Lys) c.711C>A (p.Asn237Lys) c.543C>A (p.Asn181Lys) c.417C>A (p.Asn139Lys) n.2009C>A | |
12 | g.32611253C= | CA2026267816 | FGD4 | c.1308C= (p.Asn436=) c.1563C= (p.Asn521=) c.1029C= (p.Asn343=) c.120C= (p.Asn40=) n.815C= c.1719C= (p.Asn573=) c.*700C= (n.*700C=) c.*719C= (n.*719C=) c.897C= c.1644C= (p.Asn548=) c.*677C= (n.*677C=) c.564C= (p.Asn188=) c.276C= (p.Asn92=) c.1800C= (p.Asn600=) c.1602C= (p.Asn534=) c.756C= (p.Asn252=) c.711C= (p.Asn237=) c.543C= (p.Asn181=) c.417C= (p.Asn139=) n.2009C= | |
12 | g.32611253C>G | CA384361195 | FGD4 | c.1308C>G (p.Asn436Lys) c.1563C>G (p.Asn521Lys) c.1029C>G (p.Asn343Lys) c.120C>G (p.Asn40Lys) n.815C>G c.1719C>G (p.Asn573Lys) c.*700C>G (n.*700C>G) c.*719C>G (n.*719C>G) c.897C>G c.1644C>G (p.Asn548Lys) c.*677C>G (n.*677C>G) c.564C>G (p.Asn188Lys) c.276C>G (p.Asn92Lys) c.1800C>G (p.Asn600Lys) c.1602C>G (p.Asn534Lys) c.756C>G (p.Asn252Lys) c.711C>G (p.Asn237Lys) c.543C>G (p.Asn181Lys) c.417C>G (p.Asn139Lys) n.2009C>G | |
12 | g.32611253C>T | CA479167890 | FGD4 | c.1308C>T (p.Asn436=) c.1563C>T (p.Asn521=) c.1029C>T (p.Asn343=) c.120C>T (p.Asn40=) n.815C>T c.1719C>T (p.Asn573=) c.*700C>T (n.*700C>T) c.*719C>T (n.*719C>T) c.897C>T c.1644C>T (p.Asn548=) c.*677C>T (n.*677C>T) c.564C>T (p.Asn188=) c.276C>T (p.Asn92=) c.1800C>T (p.Asn600=) c.1602C>T (p.Asn534=) c.756C>T (p.Asn252=) c.711C>T (p.Asn237=) c.543C>T (p.Asn181=) c.417C>T (p.Asn139=) n.2009C>T | dbSNP gnomAD v2 |
12 | g.32611254A>C | CA384361196 | FGD4 | c.1309A>C (p.Thr437Pro) c.1564A>C (p.Thr522Pro) c.1030A>C (p.Thr344Pro) c.121A>C (p.Thr41Pro) n.816A>C c.1720A>C (p.Thr574Pro) c.*701A>C (n.*701A>C) c.*720A>C (n.*720A>C) c.898A>C c.1645A>C (p.Thr549Pro) c.*678A>C (n.*678A>C) c.565A>C (p.Thr189Pro) c.277A>C (p.Thr93Pro) c.1801A>C (p.Thr601Pro) c.1603A>C (p.Thr535Pro) c.757A>C (p.Thr253Pro) c.712A>C (p.Thr238Pro) c.544A>C (p.Thr182Pro) c.418A>C (p.Thr140Pro) n.2010A>C | |
12 | g.32611254A>G | CA384361197 | FGD4 | c.1309A>G (p.Thr437Ala) c.1564A>G (p.Thr522Ala) c.1030A>G (p.Thr344Ala) c.121A>G (p.Thr41Ala) n.816A>G c.1720A>G (p.Thr574Ala) c.*701A>G (n.*701A>G) c.*720A>G (n.*720A>G) c.898A>G c.1645A>G (p.Thr549Ala) c.*678A>G (n.*678A>G) c.565A>G (p.Thr189Ala) c.277A>G (p.Thr93Ala) c.1801A>G (p.Thr601Ala) c.1603A>G (p.Thr535Ala) c.757A>G (p.Thr253Ala) c.712A>G (p.Thr238Ala) c.544A>G (p.Thr182Ala) c.418A>G (p.Thr140Ala) n.2010A>G | |
12 | g.32611254A>T | CA384361198 | FGD4 | c.1309A>T (p.Thr437Ser) c.1564A>T (p.Thr522Ser) c.1030A>T (p.Thr344Ser) c.121A>T (p.Thr41Ser) n.816A>T c.1720A>T (p.Thr574Ser) c.*701A>T (n.*701A>T) c.*720A>T (n.*720A>T) c.898A>T c.1645A>T (p.Thr549Ser) c.*678A>T (n.*678A>T) c.565A>T (p.Thr189Ser) c.277A>T (p.Thr93Ser) c.1801A>T (p.Thr601Ser) c.1603A>T (p.Thr535Ser) c.757A>T (p.Thr253Ser) c.712A>T (p.Thr238Ser) c.544A>T (p.Thr182Ser) c.418A>T (p.Thr140Ser) n.2010A>T | |
12 | g.32611255C>A | CA384361199 | FGD4 | c.1310C>A (p.Thr437Asn) c.1565C>A (p.Thr522Asn) c.1031C>A (p.Thr344Asn) c.122C>A (p.Thr41Asn) n.817C>A c.1721C>A (p.Thr574Asn) c.*702C>A (n.*702C>A) c.*721C>A (n.*721C>A) c.899C>A c.1646C>A (p.Thr549Asn) c.*679C>A (n.*679C>A) c.566C>A (p.Thr189Asn) c.278C>A (p.Thr93Asn) c.1802C>A (p.Thr601Asn) c.1604C>A (p.Thr535Asn) c.758C>A (p.Thr253Asn) c.713C>A (p.Thr238Asn) c.545C>A (p.Thr182Asn) c.419C>A (p.Thr140Asn) n.2011C>A | |
12 | g.32611255C>G | CA384361200 | FGD4 | c.1310C>G (p.Thr437Ser) c.1565C>G (p.Thr522Ser) c.1031C>G (p.Thr344Ser) c.122C>G (p.Thr41Ser) n.817C>G c.1721C>G (p.Thr574Ser) c.*702C>G (n.*702C>G) c.*721C>G (n.*721C>G) c.899C>G c.1646C>G (p.Thr549Ser) c.*679C>G (n.*679C>G) c.566C>G (p.Thr189Ser) c.278C>G (p.Thr93Ser) c.1802C>G (p.Thr601Ser) c.1604C>G (p.Thr535Ser) c.758C>G (p.Thr253Ser) c.713C>G (p.Thr238Ser) c.545C>G (p.Thr182Ser) c.419C>G (p.Thr140Ser) n.2011C>G | gnomAD v4 |
12 | g.32611255C>T | CA384361201 | FGD4 | c.1310C>T (p.Thr437Ile) c.1565C>T (p.Thr522Ile) c.1031C>T (p.Thr344Ile) c.122C>T (p.Thr41Ile) n.817C>T c.1721C>T (p.Thr574Ile) c.*702C>T (n.*702C>T) c.*721C>T (n.*721C>T) c.899C>T c.1646C>T (p.Thr549Ile) c.*679C>T (n.*679C>T) c.566C>T (p.Thr189Ile) c.278C>T (p.Thr93Ile) c.1802C>T (p.Thr601Ile) c.1604C>T (p.Thr535Ile) c.758C>T (p.Thr253Ile) c.713C>T (p.Thr238Ile) c.545C>T (p.Thr182Ile) c.419C>T (p.Thr140Ile) n.2011C>T | |
12 | g.32611256T>A | CA479167893 | FGD4 | c.1311T>A (p.Thr437=) c.1566T>A (p.Thr522=) c.1032T>A (p.Thr344=) c.123T>A (p.Thr41=) n.818T>A c.1722T>A (p.Thr574=) c.*703T>A (n.*703T>A) c.*722T>A (n.*722T>A) c.900T>A c.1647T>A (p.Thr549=) c.*680T>A (n.*680T>A) c.567T>A (p.Thr189=) c.279T>A (p.Thr93=) c.1803T>A (p.Thr601=) c.1605T>A (p.Thr535=) c.759T>A (p.Thr253=) c.714T>A (p.Thr238=) c.546T>A (p.Thr182=) c.420T>A (p.Thr140=) n.2012T>A | |
12 | g.32611256T>C | CA479167892 | FGD4 | c.1311T>C (p.Thr437=) c.1566T>C (p.Thr522=) c.1032T>C (p.Thr344=) c.123T>C (p.Thr41=) n.818T>C c.1722T>C (p.Thr574=) c.*703T>C (n.*703T>C) c.*722T>C (n.*722T>C) c.900T>C c.1647T>C (p.Thr549=) c.*680T>C (n.*680T>C) c.567T>C (p.Thr189=) c.279T>C (p.Thr93=) c.1803T>C (p.Thr601=) c.1605T>C (p.Thr535=) c.759T>C (p.Thr253=) c.714T>C (p.Thr238=) c.546T>C (p.Thr182=) c.420T>C (p.Thr140=) n.2012T>C | |
12 | g.32611256T>G | CA479167891 | FGD4 | c.1311T>G (p.Thr437=) c.1566T>G (p.Thr522=) c.1032T>G (p.Thr344=) c.123T>G (p.Thr41=) n.818T>G c.1722T>G (p.Thr574=) c.*703T>G (n.*703T>G) c.*722T>G (n.*722T>G) c.900T>G c.1647T>G (p.Thr549=) c.*680T>G (n.*680T>G) c.567T>G (p.Thr189=) c.279T>G (p.Thr93=) c.1803T>G (p.Thr601=) c.1605T>G (p.Thr535=) c.759T>G (p.Thr253=) c.714T>G (p.Thr238=) c.546T>G (p.Thr182=) c.420T>G (p.Thr140=) n.2012T>G | gnomAD v4 |
12 | g.32611257T>A | CA384361202 | FGD4 | c.1312T>A (p.Ser438Thr) c.1567T>A (p.Ser523Thr) c.1033T>A (p.Ser345Thr) c.124T>A (p.Ser42Thr) n.819T>A c.1723T>A (p.Ser575Thr) c.*704T>A (n.*704T>A) c.*723T>A (n.*723T>A) c.901T>A c.1648T>A (p.Ser550Thr) c.*681T>A (n.*681T>A) c.568T>A (p.Ser190Thr) c.280T>A (p.Ser94Thr) c.1804T>A (p.Ser602Thr) c.1606T>A (p.Ser536Thr) c.760T>A (p.Ser254Thr) c.715T>A (p.Ser239Thr) c.547T>A (p.Ser183Thr) c.421T>A (p.Ser141Thr) n.2013T>A | |
12 | g.32611257T>C | CA384361203 | FGD4 | c.1312T>C (p.Ser438Pro) c.1567T>C (p.Ser523Pro) c.1033T>C (p.Ser345Pro) c.124T>C (p.Ser42Pro) n.819T>C c.1723T>C (p.Ser575Pro) c.*704T>C (n.*704T>C) c.*723T>C (n.*723T>C) c.901T>C c.1648T>C (p.Ser550Pro) c.*681T>C (n.*681T>C) c.568T>C (p.Ser190Pro) c.280T>C (p.Ser94Pro) c.1804T>C (p.Ser602Pro) c.1606T>C (p.Ser536Pro) c.760T>C (p.Ser254Pro) c.715T>C (p.Ser239Pro) c.547T>C (p.Ser183Pro) c.421T>C (p.Ser141Pro) n.2013T>C | |
12 | g.32611257T>G | CA384361204 | FGD4 | c.1312T>G (p.Ser438Ala) c.1567T>G (p.Ser523Ala) c.1033T>G (p.Ser345Ala) c.124T>G (p.Ser42Ala) n.819T>G c.1723T>G (p.Ser575Ala) c.*704T>G (n.*704T>G) c.*723T>G (n.*723T>G) c.901T>G c.1648T>G (p.Ser550Ala) c.*681T>G (n.*681T>G) c.568T>G (p.Ser190Ala) c.280T>G (p.Ser94Ala) c.1804T>G (p.Ser602Ala) c.1606T>G (p.Ser536Ala) c.760T>G (p.Ser254Ala) c.715T>G (p.Ser239Ala) c.547T>G (p.Ser183Ala) c.421T>G (p.Ser141Ala) n.2013T>G | |
12 | g.32611258C>A | CA384361207 | FGD4 | c.1313C>A (p.Ser438Ter) c.1568C>A (p.Ser523Ter) c.1034C>A (p.Ser345Ter) c.125C>A (p.Ser42Ter) n.820C>A c.1724C>A (p.Ser575Ter) c.*705C>A (n.*705C>A) c.*724C>A (n.*724C>A) c.902C>A c.1649C>A (p.Ser550Ter) c.*682C>A (n.*682C>A) c.569C>A (p.Ser190Ter) c.281C>A (p.Ser94Ter) c.1805C>A (p.Ser602Ter) c.1607C>A (p.Ser536Ter) c.761C>A (p.Ser254Ter) c.716C>A (p.Ser239Ter) c.548C>A (p.Ser183Ter) c.422C>A (p.Ser141Ter) n.2014C>A | |
12 | g.32611258C>G | CA384361206 | FGD4 | c.1313C>G (p.Ser438Ter) c.1568C>G (p.Ser523Ter) c.1034C>G (p.Ser345Ter) c.125C>G (p.Ser42Ter) n.820C>G c.1724C>G (p.Ser575Ter) c.*705C>G (n.*705C>G) c.*724C>G (n.*724C>G) c.902C>G c.1649C>G (p.Ser550Ter) c.*682C>G (n.*682C>G) c.569C>G (p.Ser190Ter) c.281C>G (p.Ser94Ter) c.1805C>G (p.Ser602Ter) c.1607C>G (p.Ser536Ter) c.761C>G (p.Ser254Ter) c.716C>G (p.Ser239Ter) c.548C>G (p.Ser183Ter) c.422C>G (p.Ser141Ter) n.2014C>G | gnomAD v4 |
12 | g.32611258C>T | CA384361205 | FGD4 | c.1313C>T (p.Ser438Leu) c.1568C>T (p.Ser523Leu) c.1034C>T (p.Ser345Leu) c.125C>T (p.Ser42Leu) n.820C>T c.1724C>T (p.Ser575Leu) c.*705C>T (n.*705C>T) c.*724C>T (n.*724C>T) c.902C>T c.1649C>T (p.Ser550Leu) c.*682C>T (n.*682C>T) c.569C>T (p.Ser190Leu) c.281C>T (p.Ser94Leu) c.1805C>T (p.Ser602Leu) c.1607C>T (p.Ser536Leu) c.761C>T (p.Ser254Leu) c.716C>T (p.Ser239Leu) c.548C>T (p.Ser183Leu) c.422C>T (p.Ser141Leu) n.2014C>T | COSMIC COSMIC COSMIC |
12 | g.32611259A>C | CA479167896 | FGD4 | c.1314A>C (p.Ser438=) c.1569A>C (p.Ser523=) c.1035A>C (p.Ser345=) c.126A>C (p.Ser42=) n.821A>C c.1725A>C (p.Ser575=) c.*706A>C (n.*706A>C) c.*725A>C (n.*725A>C) c.903A>C c.1650A>C (p.Ser550=) c.*683A>C (n.*683A>C) c.570A>C (p.Ser190=) c.282A>C (p.Ser94=) c.1806A>C (p.Ser602=) c.1608A>C (p.Ser536=) c.762A>C (p.Ser254=) c.717A>C (p.Ser239=) c.549A>C (p.Ser183=) c.423A>C (p.Ser141=) n.2015A>C | |
12 | g.32611259A>G | CA479167895 | FGD4 | c.1314A>G (p.Ser438=) c.1569A>G (p.Ser523=) c.1035A>G (p.Ser345=) c.126A>G (p.Ser42=) n.821A>G c.1725A>G (p.Ser575=) c.*706A>G (n.*706A>G) c.*725A>G (n.*725A>G) c.903A>G c.1650A>G (p.Ser550=) c.*683A>G (n.*683A>G) c.570A>G (p.Ser190=) c.282A>G (p.Ser94=) c.1806A>G (p.Ser602=) c.1608A>G (p.Ser536=) c.762A>G (p.Ser254=) c.717A>G (p.Ser239=) c.549A>G (p.Ser183=) c.423A>G (p.Ser141=) n.2015A>G | gnomAD v3 gnomAD v4 |
12 | g.32611259A>T | CA479167894 | FGD4 | c.1314A>T (p.Ser438=) c.1569A>T (p.Ser523=) c.1035A>T (p.Ser345=) c.126A>T (p.Ser42=) n.821A>T c.1725A>T (p.Ser575=) c.*706A>T (n.*706A>T) c.*725A>T (n.*725A>T) c.903A>T c.1650A>T (p.Ser550=) c.*683A>T (n.*683A>T) c.570A>T (p.Ser190=) c.282A>T (p.Ser94=) c.1806A>T (p.Ser602=) c.1608A>T (p.Ser536=) c.762A>T (p.Ser254=) c.717A>T (p.Ser239=) c.549A>T (p.Ser183=) c.423A>T (p.Ser141=) n.2015A>T | |
12 | g.32611260G>A | CA384361208 | FGD4 | c.1315G>A (p.Ala439Thr) c.1570G>A (p.Ala524Thr) c.1036G>A (p.Ala346Thr) c.127G>A (p.Ala43Thr) n.822G>A c.1726G>A (p.Ala576Thr) c.*707G>A (n.*707G>A) c.*726G>A (n.*726G>A) c.904G>A c.1651G>A (p.Ala551Thr) c.*684G>A (n.*684G>A) c.571G>A (p.Ala191Thr) c.283G>A (p.Ala95Thr) c.1807G>A (p.Ala603Thr) c.1609G>A (p.Ala537Thr) c.763G>A (p.Ala255Thr) c.718G>A (p.Ala240Thr) c.550G>A (p.Ala184Thr) c.424G>A (p.Ala142Thr) n.2016G>A | COSMIC COSMIC COSMIC |
12 | g.32611260G>C | CA384361209 | FGD4 | c.1315G>C (p.Ala439Pro) c.1570G>C (p.Ala524Pro) c.1036G>C (p.Ala346Pro) c.127G>C (p.Ala43Pro) n.822G>C c.1726G>C (p.Ala576Pro) c.*707G>C (n.*707G>C) c.*726G>C (n.*726G>C) c.904G>C c.1651G>C (p.Ala551Pro) c.*684G>C (n.*684G>C) c.571G>C (p.Ala191Pro) c.283G>C (p.Ala95Pro) c.1807G>C (p.Ala603Pro) c.1609G>C (p.Ala537Pro) c.763G>C (p.Ala255Pro) c.718G>C (p.Ala240Pro) c.550G>C (p.Ala184Pro) c.424G>C (p.Ala142Pro) n.2016G>C | |
12 | g.32611260G>T | CA384361210 | FGD4 | c.1315G>T (p.Ala439Ser) c.1570G>T (p.Ala524Ser) c.1036G>T (p.Ala346Ser) c.127G>T (p.Ala43Ser) n.822G>T c.1726G>T (p.Ala576Ser) c.*707G>T (n.*707G>T) c.*726G>T (n.*726G>T) c.904G>T c.1651G>T (p.Ala551Ser) c.*684G>T (n.*684G>T) c.571G>T (p.Ala191Ser) c.283G>T (p.Ala95Ser) c.1807G>T (p.Ala603Ser) c.1609G>T (p.Ala537Ser) c.763G>T (p.Ala255Ser) c.718G>T (p.Ala240Ser) c.550G>T (p.Ala184Ser) c.424G>T (p.Ala142Ser) n.2016G>T | |
12 | g.32611261C>A | CA384361211 | FGD4 | c.1316C>A (p.Ala439Glu) c.1571C>A (p.Ala524Glu) c.1037C>A (p.Ala346Glu) c.128C>A (p.Ala43Glu) n.823C>A c.1727C>A (p.Ala576Glu) c.*708C>A (n.*708C>A) c.*727C>A (n.*727C>A) c.905C>A c.1652C>A (p.Ala551Glu) c.*685C>A (n.*685C>A) c.572C>A (p.Ala191Glu) c.284C>A (p.Ala95Glu) c.1808C>A (p.Ala603Glu) c.1610C>A (p.Ala537Glu) c.764C>A (p.Ala255Glu) c.719C>A (p.Ala240Glu) c.551C>A (p.Ala184Glu) c.425C>A (p.Ala142Glu) n.2017C>A | |
12 | g.32611261C>G | CA384361212 | FGD4 | c.1316C>G (p.Ala439Gly) c.1571C>G (p.Ala524Gly) c.1037C>G (p.Ala346Gly) c.128C>G (p.Ala43Gly) n.823C>G c.1727C>G (p.Ala576Gly) c.*708C>G (n.*708C>G) c.*727C>G (n.*727C>G) c.905C>G c.1652C>G (p.Ala551Gly) c.*685C>G (n.*685C>G) c.572C>G (p.Ala191Gly) c.284C>G (p.Ala95Gly) c.1808C>G (p.Ala603Gly) c.1610C>G (p.Ala537Gly) c.764C>G (p.Ala255Gly) c.719C>G (p.Ala240Gly) c.551C>G (p.Ala184Gly) c.425C>G (p.Ala142Gly) n.2017C>G | |
12 | g.32611261C>T | CA384361213 | FGD4 | c.1316C>T (p.Ala439Val) c.1571C>T (p.Ala524Val) c.1037C>T (p.Ala346Val) c.128C>T (p.Ala43Val) n.823C>T c.1727C>T (p.Ala576Val) c.*708C>T (n.*708C>T) c.*727C>T (n.*727C>T) c.905C>T c.1652C>T (p.Ala551Val) c.*685C>T (n.*685C>T) c.572C>T (p.Ala191Val) c.284C>T (p.Ala95Val) c.1808C>T (p.Ala603Val) c.1610C>T (p.Ala537Val) c.764C>T (p.Ala255Val) c.719C>T (p.Ala240Val) c.551C>T (p.Ala184Val) c.425C>T (p.Ala142Val) n.2017C>T | |
12 | g.32611262A>C | CA479167897 | FGD4 | c.1317A>C (p.Ala439=) c.1572A>C (p.Ala524=) c.1038A>C (p.Ala346=) c.129A>C (p.Ala43=) n.824A>C c.1728A>C (p.Ala576=) c.*709A>C (n.*709A>C) c.*728A>C (n.*728A>C) c.906A>C c.1653A>C (p.Ala551=) c.*686A>C (n.*686A>C) c.573A>C (p.Ala191=) c.285A>C (p.Ala95=) c.1809A>C (p.Ala603=) c.1611A>C (p.Ala537=) c.765A>C (p.Ala255=) c.720A>C (p.Ala240=) c.552A>C (p.Ala184=) c.426A>C (p.Ala142=) n.2018A>C | gnomAD v4 |
12 | g.32611262A>G | CA479167899 | FGD4 | c.1317A>G (p.Ala439=) c.1572A>G (p.Ala524=) c.1038A>G (p.Ala346=) c.129A>G (p.Ala43=) n.824A>G c.1728A>G (p.Ala576=) c.*709A>G (n.*709A>G) c.*728A>G (n.*728A>G) c.906A>G c.1653A>G (p.Ala551=) c.*686A>G (n.*686A>G) c.573A>G (p.Ala191=) c.285A>G (p.Ala95=) c.1809A>G (p.Ala603=) c.1611A>G (p.Ala537=) c.765A>G (p.Ala255=) c.720A>G (p.Ala240=) c.552A>G (p.Ala184=) c.426A>G (p.Ala142=) n.2018A>G | |
12 | g.32611262A>T | CA479167898 | FGD4 | c.1317A>T (p.Ala439=) c.1572A>T (p.Ala524=) c.1038A>T (p.Ala346=) c.129A>T (p.Ala43=) n.824A>T c.1728A>T (p.Ala576=) c.*709A>T (n.*709A>T) c.*728A>T (n.*728A>T) c.906A>T c.1653A>T (p.Ala551=) c.*686A>T (n.*686A>T) c.573A>T (p.Ala191=) c.285A>T (p.Ala95=) c.1809A>T (p.Ala603=) c.1611A>T (p.Ala537=) c.765A>T (p.Ala255=) c.720A>T (p.Ala240=) c.552A>T (p.Ala184=) c.426A>T (p.Ala142=) n.2018A>T | |
12 | g.32611263C>A | CA384361214 | FGD4 | c.1318C>A (p.Gln440Lys) c.1573C>A (p.Gln525Lys) c.1039C>A (p.Gln347Lys) c.130C>A (p.Gln44Lys) n.825C>A c.1729C>A (p.Gln577Lys) c.*710C>A (n.*710C>A) c.*729C>A (n.*729C>A) c.907C>A c.1654C>A (p.Gln552Lys) c.*687C>A (n.*687C>A) c.574C>A (p.Gln192Lys) c.286C>A (p.Gln96Lys) c.1810C>A (p.Gln604Lys) c.1612C>A (p.Gln538Lys) c.766C>A (p.Gln256Lys) c.721C>A (p.Gln241Lys) c.553C>A (p.Gln185Lys) c.427C>A (p.Gln143Lys) n.2019C>A | |
12 | g.32611263C>G | CA384361215 | FGD4 | c.1318C>G (p.Gln440Glu) c.1573C>G (p.Gln525Glu) c.1039C>G (p.Gln347Glu) c.130C>G (p.Gln44Glu) n.825C>G c.1729C>G (p.Gln577Glu) c.*710C>G (n.*710C>G) c.*729C>G (n.*729C>G) c.907C>G c.1654C>G (p.Gln552Glu) c.*687C>G (n.*687C>G) c.574C>G (p.Gln192Glu) c.286C>G (p.Gln96Glu) c.1810C>G (p.Gln604Glu) c.1612C>G (p.Gln538Glu) c.766C>G (p.Gln256Glu) c.721C>G (p.Gln241Glu) c.553C>G (p.Gln185Glu) c.427C>G (p.Gln143Glu) n.2019C>G | |
12 | g.32611263C>T | CA384361216 | FGD4 | c.1318C>T (p.Gln440Ter) c.1573C>T (p.Gln525Ter) c.1039C>T (p.Gln347Ter) c.130C>T (p.Gln44Ter) n.825C>T c.1729C>T (p.Gln577Ter) c.*710C>T (n.*710C>T) c.*729C>T (n.*729C>T) c.907C>T c.1654C>T (p.Gln552Ter) c.*687C>T (n.*687C>T) c.574C>T (p.Gln192Ter) c.286C>T (p.Gln96Ter) c.1810C>T (p.Gln604Ter) c.1612C>T (p.Gln538Ter) c.766C>T (p.Gln256Ter) c.721C>T (p.Gln241Ter) c.553C>T (p.Gln185Ter) c.427C>T (p.Gln143Ter) n.2019C>T | |
12 | g.32611264A>C | CA384361217 | FGD4 | c.1319A>C (p.Gln440Pro) c.1574A>C (p.Gln525Pro) c.1040A>C (p.Gln347Pro) c.131A>C (p.Gln44Pro) n.826A>C c.1730A>C (p.Gln577Pro) c.*711A>C (n.*711A>C) c.*730A>C (n.*730A>C) c.908A>C c.1655A>C (p.Gln552Pro) c.*688A>C (n.*688A>C) c.575A>C (p.Gln192Pro) c.287A>C (p.Gln96Pro) c.1811A>C (p.Gln604Pro) c.1613A>C (p.Gln538Pro) c.767A>C (p.Gln256Pro) c.722A>C (p.Gln241Pro) c.554A>C (p.Gln185Pro) c.428A>C (p.Gln143Pro) n.2020A>C | |
12 | g.32611264A>G | CA384361218 | FGD4 | c.1319A>G (p.Gln440Arg) c.1574A>G (p.Gln525Arg) c.1040A>G (p.Gln347Arg) c.131A>G (p.Gln44Arg) n.826A>G c.1730A>G (p.Gln577Arg) c.*711A>G (n.*711A>G) c.*730A>G (n.*730A>G) c.908A>G c.1655A>G (p.Gln552Arg) c.*688A>G (n.*688A>G) c.575A>G (p.Gln192Arg) c.287A>G (p.Gln96Arg) c.1811A>G (p.Gln604Arg) c.1613A>G (p.Gln538Arg) c.767A>G (p.Gln256Arg) c.722A>G (p.Gln241Arg) c.554A>G (p.Gln185Arg) c.428A>G (p.Gln143Arg) n.2020A>G | ClinVar dbSNP gnomAD v4 |
12 | g.32611264A>T | CA384361220 | FGD4 | c.1319A>T (p.Gln440Leu) c.1574A>T (p.Gln525Leu) c.1040A>T (p.Gln347Leu) c.131A>T (p.Gln44Leu) n.826A>T c.1730A>T (p.Gln577Leu) c.*711A>T (n.*711A>T) c.*730A>T (n.*730A>T) c.908A>T c.1655A>T (p.Gln552Leu) c.*688A>T (n.*688A>T) c.575A>T (p.Gln192Leu) c.287A>T (p.Gln96Leu) c.1811A>T (p.Gln604Leu) c.1613A>T (p.Gln538Leu) c.767A>T (p.Gln256Leu) c.722A>T (p.Gln241Leu) c.554A>T (p.Gln185Leu) c.428A>T (p.Gln143Leu) n.2020A>T | |
12 | g.32611265A= | CA2026267818 | FGD4 | c.1320A= (p.Gln440=) c.1575A= (p.Gln525=) c.1041A= (p.Gln347=) c.132A= (p.Gln44=) n.827A= c.1731A= (p.Gln577=) c.*712A= (n.*712A=) c.*731A= (n.*731A=) c.909A= c.1656A= (p.Gln552=) c.*689A= (n.*689A=) c.576A= (p.Gln192=) c.288A= (p.Gln96=) c.1812A= (p.Gln604=) c.1614A= (p.Gln538=) c.768A= (p.Gln256=) c.723A= (p.Gln241=) c.555A= (p.Gln185=) c.429A= (p.Gln143=) n.2021A= | |
12 | g.32611265A>C | CA384361221 | FGD4 | c.1320A>C (p.Gln440His) c.1575A>C (p.Gln525His) c.1041A>C (p.Gln347His) c.132A>C (p.Gln44His) n.827A>C c.1731A>C (p.Gln577His) c.*712A>C (n.*712A>C) c.*731A>C (n.*731A>C) c.909A>C c.1656A>C (p.Gln552His) c.*689A>C (n.*689A>C) c.576A>C (p.Gln192His) c.288A>C (p.Gln96His) c.1812A>C (p.Gln604His) c.1614A>C (p.Gln538His) c.768A>C (p.Gln256His) c.723A>C (p.Gln241His) c.555A>C (p.Gln185His) c.429A>C (p.Gln143His) n.2021A>C | |
12 | g.32611265A>G | CA479167900 | FGD4 | c.1320A>G (p.Gln440=) c.1575A>G (p.Gln525=) c.1041A>G (p.Gln347=) c.132A>G (p.Gln44=) n.827A>G c.1731A>G (p.Gln577=) c.*712A>G (n.*712A>G) c.*731A>G (n.*731A>G) c.909A>G c.1656A>G (p.Gln552=) c.*689A>G (n.*689A>G) c.576A>G (p.Gln192=) c.288A>G (p.Gln96=) c.1812A>G (p.Gln604=) c.1614A>G (p.Gln538=) c.768A>G (p.Gln256=) c.723A>G (p.Gln241=) c.555A>G (p.Gln185=) c.429A>G (p.Gln143=) n.2021A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.32611265A>T | CA384361223 | FGD4 | c.1320A>T (p.Gln440His) c.1575A>T (p.Gln525His) c.1041A>T (p.Gln347His) c.132A>T (p.Gln44His) n.827A>T c.1731A>T (p.Gln577His) c.*712A>T (n.*712A>T) c.*731A>T (n.*731A>T) c.909A>T c.1656A>T (p.Gln552His) c.*689A>T (n.*689A>T) c.576A>T (p.Gln192His) c.288A>T (p.Gln96His) c.1812A>T (p.Gln604His) c.1614A>T (p.Gln538His) c.768A>T (p.Gln256His) c.723A>T (p.Gln241His) c.555A>T (p.Gln185His) c.429A>T (p.Gln143His) n.2021A>T | |
12 | g.32611266G>A | CA384361225 | FGD4 | c.1321G>A (p.Glu441Lys) c.1576G>A (p.Glu526Lys) c.1042G>A (p.Glu348Lys) c.133G>A (p.Glu45Lys) n.828G>A c.1732G>A (p.Glu578Lys) c.*713G>A (n.*713G>A) c.*732G>A (n.*732G>A) c.910G>A c.1657G>A (p.Glu553Lys) c.*690G>A (n.*690G>A) c.577G>A (p.Glu193Lys) c.289G>A (p.Glu97Lys) c.1813G>A (p.Glu605Lys) c.1615G>A (p.Glu539Lys) c.769G>A (p.Glu257Lys) c.724G>A (p.Glu242Lys) c.556G>A (p.Glu186Lys) c.430G>A (p.Glu144Lys) n.2022G>A | |
12 | g.32611266G>C | CA384361227 | FGD4 | c.1321G>C (p.Glu441Gln) c.1576G>C (p.Glu526Gln) c.1042G>C (p.Glu348Gln) c.133G>C (p.Glu45Gln) n.828G>C c.1732G>C (p.Glu578Gln) c.*713G>C (n.*713G>C) c.*732G>C (n.*732G>C) c.910G>C c.1657G>C (p.Glu553Gln) c.*690G>C (n.*690G>C) c.577G>C (p.Glu193Gln) c.289G>C (p.Glu97Gln) c.1813G>C (p.Glu605Gln) c.1615G>C (p.Glu539Gln) c.769G>C (p.Glu257Gln) c.724G>C (p.Glu242Gln) c.556G>C (p.Glu186Gln) c.430G>C (p.Glu144Gln) n.2022G>C | |
12 | g.32611266G>T | CA384361228 | FGD4 | c.1321G>T (p.Glu441Ter) c.1576G>T (p.Glu526Ter) c.1042G>T (p.Glu348Ter) c.133G>T (p.Glu45Ter) n.828G>T c.1732G>T (p.Glu578Ter) c.*713G>T (n.*713G>T) c.*732G>T (n.*732G>T) c.910G>T c.1657G>T (p.Glu553Ter) c.*690G>T (n.*690G>T) c.577G>T (p.Glu193Ter) c.289G>T (p.Glu97Ter) c.1813G>T (p.Glu605Ter) c.1615G>T (p.Glu539Ter) c.769G>T (p.Glu257Ter) c.724G>T (p.Glu242Ter) c.556G>T (p.Glu186Ter) c.430G>T (p.Glu144Ter) n.2022G>T | |
12 | g.32611267A>C | CA384361229 | FGD4 | c.1322A>C (p.Glu441Ala) c.1577A>C (p.Glu526Ala) c.1043A>C (p.Glu348Ala) c.134A>C (p.Glu45Ala) n.829A>C c.1733A>C (p.Glu578Ala) c.*714A>C (n.*714A>C) c.*733A>C (n.*733A>C) c.911A>C c.1658A>C (p.Glu553Ala) c.*691A>C (n.*691A>C) c.578A>C (p.Glu193Ala) c.290A>C (p.Glu97Ala) c.1814A>C (p.Glu605Ala) c.1616A>C (p.Glu539Ala) c.770A>C (p.Glu257Ala) c.725A>C (p.Glu242Ala) c.557A>C (p.Glu186Ala) c.431A>C (p.Glu144Ala) n.2023A>C | |
12 | g.32611267A>G | CA384361230 | FGD4 | c.1322A>G (p.Glu441Gly) c.1577A>G (p.Glu526Gly) c.1043A>G (p.Glu348Gly) c.134A>G (p.Glu45Gly) n.829A>G c.1733A>G (p.Glu578Gly) c.*714A>G (n.*714A>G) c.*733A>G (n.*733A>G) c.911A>G c.1658A>G (p.Glu553Gly) c.*691A>G (n.*691A>G) c.578A>G (p.Glu193Gly) c.290A>G (p.Glu97Gly) c.1814A>G (p.Glu605Gly) c.1616A>G (p.Glu539Gly) c.770A>G (p.Glu257Gly) c.725A>G (p.Glu242Gly) c.557A>G (p.Glu186Gly) c.431A>G (p.Glu144Gly) n.2023A>G | |
12 | g.32611267A>T | CA384361231 | FGD4 | c.1322A>T (p.Glu441Val) c.1577A>T (p.Glu526Val) c.1043A>T (p.Glu348Val) c.134A>T (p.Glu45Val) n.829A>T c.1733A>T (p.Glu578Val) c.*714A>T (n.*714A>T) c.*733A>T (n.*733A>T) c.911A>T c.1658A>T (p.Glu553Val) c.*691A>T (n.*691A>T) c.578A>T (p.Glu193Val) c.290A>T (p.Glu97Val) c.1814A>T (p.Glu605Val) c.1616A>T (p.Glu539Val) c.770A>T (p.Glu257Val) c.725A>T (p.Glu242Val) c.557A>T (p.Glu186Val) c.431A>T (p.Glu144Val) n.2023A>T | |
12 | g.32611268A= | CA2026267820 | FGD4 | c.1323A= (p.Glu441=) c.1578A= (p.Glu526=) c.1044A= (p.Glu348=) c.135A= (p.Glu45=) n.830A= c.1734A= (p.Glu578=) c.*715A= (n.*715A=) c.*734A= (n.*734A=) c.912A= c.1659A= (p.Glu553=) c.*692A= (n.*692A=) c.579A= (p.Glu193=) c.291A= (p.Glu97=) c.1815A= (p.Glu605=) c.1617A= (p.Glu539=) c.771A= (p.Glu257=) c.726A= (p.Glu242=) c.558A= (p.Glu186=) c.432A= (p.Glu144=) n.2024A= | |
12 | g.32611268A>C | CA384361235 | FGD4 | c.1323A>C (p.Glu441Asp) c.1578A>C (p.Glu526Asp) c.1044A>C (p.Glu348Asp) c.135A>C (p.Glu45Asp) n.830A>C c.1734A>C (p.Glu578Asp) c.*715A>C (n.*715A>C) c.*734A>C (n.*734A>C) c.912A>C c.1659A>C (p.Glu553Asp) c.*692A>C (n.*692A>C) c.579A>C (p.Glu193Asp) c.291A>C (p.Glu97Asp) c.1815A>C (p.Glu605Asp) c.1617A>C (p.Glu539Asp) c.771A>C (p.Glu257Asp) c.726A>C (p.Glu242Asp) c.558A>C (p.Glu186Asp) c.432A>C (p.Glu144Asp) n.2024A>C | |
12 | g.32611268A>G | CA479167901 | FGD4 | c.1323A>G (p.Glu441=) c.1578A>G (p.Glu526=) c.1044A>G (p.Glu348=) c.135A>G (p.Glu45=) n.830A>G c.1734A>G (p.Glu578=) c.*715A>G (n.*715A>G) c.*734A>G (n.*734A>G) c.912A>G c.1659A>G (p.Glu553=) c.*692A>G (n.*692A>G) c.579A>G (p.Glu193=) c.291A>G (p.Glu97=) c.1815A>G (p.Glu605=) c.1617A>G (p.Glu539=) c.771A>G (p.Glu257=) c.726A>G (p.Glu242=) c.558A>G (p.Glu186=) c.432A>G (p.Glu144=) n.2024A>G | dbSNP gnomAD v4 |
12 | g.32611268A>T | CA384361233 | FGD4 | c.1323A>T (p.Glu441Asp) c.1578A>T (p.Glu526Asp) c.1044A>T (p.Glu348Asp) c.135A>T (p.Glu45Asp) n.830A>T c.1734A>T (p.Glu578Asp) c.*715A>T (n.*715A>T) c.*734A>T (n.*734A>T) c.912A>T c.1659A>T (p.Glu553Asp) c.*692A>T (n.*692A>T) c.579A>T (p.Glu193Asp) c.291A>T (p.Glu97Asp) c.1815A>T (p.Glu605Asp) c.1617A>T (p.Glu539Asp) c.771A>T (p.Glu257Asp) c.726A>T (p.Glu242Asp) c.558A>T (p.Glu186Asp) c.432A>T (p.Glu144Asp) n.2024A>T | |
12 | g.32611269C>A | CA384361236 | FGD4 | c.1324C>A (p.Arg442Ser) c.1579C>A (p.Arg527Ser) c.1045C>A (p.Arg349Ser) c.136C>A (p.Arg46Ser) n.831C>A c.1735C>A (p.Arg579Ser) c.*716C>A (n.*716C>A) c.*735C>A (n.*735C>A) c.913C>A c.1660C>A (p.Arg554Ser) c.*693C>A (n.*693C>A) c.580C>A (p.Arg194Ser) c.292C>A (p.Arg98Ser) c.1816C>A (p.Arg606Ser) c.1618C>A (p.Arg540Ser) c.772C>A (p.Arg258Ser) c.727C>A (p.Arg243Ser) c.559C>A (p.Arg187Ser) c.433C>A (p.Arg145Ser) n.2025C>A | gnomAD v4 |
12 | g.32611269C= | CA2026267823 | FGD4 | c.1324C= (p.Arg442=) c.1579C= (p.Arg527=) c.1045C= (p.Arg349=) c.136C= (p.Arg46=) n.831C= c.1735C= (p.Arg579=) c.*716C= (n.*716C=) c.*735C= (n.*735C=) c.913C= c.1660C= (p.Arg554=) c.*693C= (n.*693C=) c.580C= (p.Arg194=) c.292C= (p.Arg98=) c.1816C= (p.Arg606=) c.1618C= (p.Arg540=) c.772C= (p.Arg258=) c.727C= (p.Arg243=) c.559C= (p.Arg187=) c.433C= (p.Arg145=) n.2025C= | |
12 | g.32611269C>G | CA384361238 | FGD4 | c.1324C>G (p.Arg442Gly) c.1579C>G (p.Arg527Gly) c.1045C>G (p.Arg349Gly) c.136C>G (p.Arg46Gly) n.831C>G c.1735C>G (p.Arg579Gly) c.*716C>G (n.*716C>G) c.*735C>G (n.*735C>G) c.913C>G c.1660C>G (p.Arg554Gly) c.*693C>G (n.*693C>G) c.580C>G (p.Arg194Gly) c.292C>G (p.Arg98Gly) c.1816C>G (p.Arg606Gly) c.1618C>G (p.Arg540Gly) c.772C>G (p.Arg258Gly) c.727C>G (p.Arg243Gly) c.559C>G (p.Arg187Gly) c.433C>G (p.Arg145Gly) n.2025C>G | |
12 | g.32611269C>T | CA384361240 | FGD4 | c.1324C>T (p.Arg442Cys) c.1579C>T (p.Arg527Cys) c.1045C>T (p.Arg349Cys) c.136C>T (p.Arg46Cys) n.831C>T c.1735C>T (p.Arg579Cys) c.*716C>T (n.*716C>T) c.*735C>T (n.*735C>T) c.913C>T c.1660C>T (p.Arg554Cys) c.*693C>T (n.*693C>T) c.580C>T (p.Arg194Cys) c.292C>T (p.Arg98Cys) c.1816C>T (p.Arg606Cys) c.1618C>T (p.Arg540Cys) c.772C>T (p.Arg258Cys) c.727C>T (p.Arg243Cys) c.559C>T (p.Arg187Cys) c.433C>T (p.Arg145Cys) n.2025C>T | ClinVar dbSNP gnomAD v4 |
12 | g.32611270G>A | CA343101 | FGD4 | c.1325G>A (p.Arg442His) c.1580G>A (p.Arg527His) c.1046G>A (p.Arg349His) c.137G>A (p.Arg46His) n.832G>A c.1736G>A (p.Arg579His) c.*717G>A (n.*717G>A) c.*736G>A (n.*736G>A) c.914G>A c.1661G>A (p.Arg554His) c.*694G>A (n.*694G>A) c.581G>A (p.Arg194His) c.293G>A (p.Arg98His) c.1817G>A (p.Arg606His) c.1619G>A (p.Arg540His) c.773G>A (p.Arg258His) c.728G>A (p.Arg243His) c.560G>A (p.Arg187His) c.434G>A (p.Arg145His) n.2026G>A | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.32611270G>C | CA384361243 | FGD4 | c.1325G>C (p.Arg442Pro) c.1580G>C (p.Arg527Pro) c.1046G>C (p.Arg349Pro) c.137G>C (p.Arg46Pro) n.832G>C c.1736G>C (p.Arg579Pro) c.*717G>C (n.*717G>C) c.*736G>C (n.*736G>C) c.914G>C c.1661G>C (p.Arg554Pro) c.*694G>C (n.*694G>C) c.581G>C (p.Arg194Pro) c.293G>C (p.Arg98Pro) c.1817G>C (p.Arg606Pro) c.1619G>C (p.Arg540Pro) c.773G>C (p.Arg258Pro) c.728G>C (p.Arg243Pro) c.560G>C (p.Arg187Pro) c.434G>C (p.Arg145Pro) n.2026G>C | |
12 | g.32611270G= | CA2026267826 | FGD4 | c.1325G= (p.Arg442=) c.1580G= (p.Arg527=) c.1046G= (p.Arg349=) c.137G= (p.Arg46=) n.832G= c.1736G= (p.Arg579=) c.*717G= (n.*717G=) c.*736G= (n.*736G=) c.914G= c.1661G= (p.Arg554=) c.*694G= (n.*694G=) c.581G= (p.Arg194=) c.293G= (p.Arg98=) c.1817G= (p.Arg606=) c.1619G= (p.Arg540=) c.773G= (p.Arg258=) c.728G= (p.Arg243=) c.560G= (p.Arg187=) c.434G= (p.Arg145=) n.2026G= | |
12 | g.32611270G>T | CA384361245 | FGD4 | c.1325G>T (p.Arg442Leu) c.1580G>T (p.Arg527Leu) c.1046G>T (p.Arg349Leu) c.137G>T (p.Arg46Leu) n.832G>T c.1736G>T (p.Arg579Leu) c.*717G>T (n.*717G>T) c.*736G>T (n.*736G>T) c.914G>T c.1661G>T (p.Arg554Leu) c.*694G>T (n.*694G>T) c.581G>T (p.Arg194Leu) c.293G>T (p.Arg98Leu) c.1817G>T (p.Arg606Leu) c.1619G>T (p.Arg540Leu) c.773G>T (p.Arg258Leu) c.728G>T (p.Arg243Leu) c.560G>T (p.Arg187Leu) c.434G>T (p.Arg145Leu) n.2026G>T | |
12 | g.32611271C>A | CA479167902 | FGD4 | c.1326C>A (p.Arg442=) c.1581C>A (p.Arg527=) c.1047C>A (p.Arg349=) c.138C>A (p.Arg46=) n.833C>A c.1737C>A (p.Arg579=) c.*718C>A (n.*718C>A) c.*737C>A (n.*737C>A) c.915C>A c.1662C>A (p.Arg554=) c.*695C>A (n.*695C>A) c.582C>A (p.Arg194=) c.294C>A (p.Arg98=) c.1818C>A (p.Arg606=) c.1620C>A (p.Arg540=) c.774C>A (p.Arg258=) c.729C>A (p.Arg243=) c.561C>A (p.Arg187=) c.435C>A (p.Arg145=) n.2027C>A | |
12 | g.32611271C>G | CA479167903 | FGD4 | c.1326C>G (p.Arg442=) c.1581C>G (p.Arg527=) c.1047C>G (p.Arg349=) c.138C>G (p.Arg46=) n.833C>G c.1737C>G (p.Arg579=) c.*718C>G (n.*718C>G) c.*737C>G (n.*737C>G) c.915C>G c.1662C>G (p.Arg554=) c.*695C>G (n.*695C>G) c.582C>G (p.Arg194=) c.294C>G (p.Arg98=) c.1818C>G (p.Arg606=) c.1620C>G (p.Arg540=) c.774C>G (p.Arg258=) c.729C>G (p.Arg243=) c.561C>G (p.Arg187=) c.435C>G (p.Arg145=) n.2027C>G | |
12 | g.32611271C>T | CA479167904 | FGD4 | c.1326C>T (p.Arg442=) c.1581C>T (p.Arg527=) c.1047C>T (p.Arg349=) c.138C>T (p.Arg46=) n.833C>T c.1737C>T (p.Arg579=) c.*718C>T (n.*718C>T) c.*737C>T (n.*737C>T) c.915C>T c.1662C>T (p.Arg554=) c.*695C>T (n.*695C>T) c.582C>T (p.Arg194=) c.294C>T (p.Arg98=) c.1818C>T (p.Arg606=) c.1620C>T (p.Arg540=) c.774C>T (p.Arg258=) c.729C>T (p.Arg243=) c.561C>T (p.Arg187=) c.435C>T (p.Arg145=) n.2027C>T | |
12 | g.32611272T>A | CA384361247 | FGD4 | c.1327T>A (p.Tyr443Asn) c.1582T>A (p.Tyr528Asn) c.1048T>A (p.Tyr350Asn) c.139T>A (p.Tyr47Asn) n.834T>A c.1738T>A (p.Tyr580Asn) c.*719T>A (n.*719T>A) c.*738T>A (n.*738T>A) c.916T>A c.1663T>A (p.Tyr555Asn) c.*696T>A (n.*696T>A) c.583T>A (p.Tyr195Asn) c.295T>A (p.Tyr99Asn) c.1819T>A (p.Tyr607Asn) c.1621T>A (p.Tyr541Asn) c.775T>A (p.Tyr259Asn) c.730T>A (p.Tyr244Asn) c.562T>A (p.Tyr188Asn) c.436T>A (p.Tyr146Asn) n.2028T>A | |
12 | g.32611272T>C | CA384361249 | FGD4 | c.1327T>C (p.Tyr443His) c.1582T>C (p.Tyr528His) c.1048T>C (p.Tyr350His) c.139T>C (p.Tyr47His) n.834T>C c.1738T>C (p.Tyr580His) c.*719T>C (n.*719T>C) c.*738T>C (n.*738T>C) c.916T>C c.1663T>C (p.Tyr555His) c.*696T>C (n.*696T>C) c.583T>C (p.Tyr195His) c.295T>C (p.Tyr99His) c.1819T>C (p.Tyr607His) c.1621T>C (p.Tyr541His) c.775T>C (p.Tyr259His) c.730T>C (p.Tyr244His) c.562T>C (p.Tyr188His) c.436T>C (p.Tyr146His) n.2028T>C | ClinVar dbSNP |
12 | g.32611272T>G | CA384361248 | FGD4 | c.1327T>G (p.Tyr443Asp) c.1582T>G (p.Tyr528Asp) c.1048T>G (p.Tyr350Asp) c.139T>G (p.Tyr47Asp) n.834T>G c.1738T>G (p.Tyr580Asp) c.*719T>G (n.*719T>G) c.*738T>G (n.*738T>G) c.916T>G c.1663T>G (p.Tyr555Asp) c.*696T>G (n.*696T>G) c.583T>G (p.Tyr195Asp) c.295T>G (p.Tyr99Asp) c.1819T>G (p.Tyr607Asp) c.1621T>G (p.Tyr541Asp) c.775T>G (p.Tyr259Asp) c.730T>G (p.Tyr244Asp) c.562T>G (p.Tyr188Asp) c.436T>G (p.Tyr146Asp) n.2028T>G | |
12 | g.32611272T= | CA2026267831 | FGD4 | c.1327T= (p.Tyr443=) c.1582T= (p.Tyr528=) c.1048T= (p.Tyr350=) c.139T= (p.Tyr47=) n.834T= c.1738T= (p.Tyr580=) c.*719T= (n.*719T=) c.*738T= (n.*738T=) c.916T= c.1663T= (p.Tyr555=) c.*696T= (n.*696T=) c.583T= (p.Tyr195=) c.295T= (p.Tyr99=) c.1819T= (p.Tyr607=) c.1621T= (p.Tyr541=) c.775T= (p.Tyr259=) c.730T= (p.Tyr244=) c.562T= (p.Tyr188=) c.436T= (p.Tyr146=) n.2028T= | |
12 | g.32611273A>C | CA384361250 | FGD4 | c.1328A>C (p.Tyr443Ser) c.1583A>C (p.Tyr528Ser) c.1049A>C (p.Tyr350Ser) c.140A>C (p.Tyr47Ser) n.835A>C c.1739A>C (p.Tyr580Ser) c.*720A>C (n.*720A>C) c.*739A>C (n.*739A>C) c.917A>C c.1664A>C (p.Tyr555Ser) c.*697A>C (n.*697A>C) c.584A>C (p.Tyr195Ser) c.296A>C (p.Tyr99Ser) c.1820A>C (p.Tyr607Ser) c.1622A>C (p.Tyr541Ser) c.776A>C (p.Tyr259Ser) c.731A>C (p.Tyr244Ser) c.563A>C (p.Tyr188Ser) c.437A>C (p.Tyr146Ser) n.2029A>C | |
12 | g.32611273A>G | CA384361251 | FGD4 | c.1328A>G (p.Tyr443Cys) c.1583A>G (p.Tyr528Cys) c.1049A>G (p.Tyr350Cys) c.140A>G (p.Tyr47Cys) n.835A>G c.1739A>G (p.Tyr580Cys) c.*720A>G (n.*720A>G) c.*739A>G (n.*739A>G) c.917A>G c.1664A>G (p.Tyr555Cys) c.*697A>G (n.*697A>G) c.584A>G (p.Tyr195Cys) c.296A>G (p.Tyr99Cys) c.1820A>G (p.Tyr607Cys) c.1622A>G (p.Tyr541Cys) c.776A>G (p.Tyr259Cys) c.731A>G (p.Tyr244Cys) c.563A>G (p.Tyr188Cys) c.437A>G (p.Tyr146Cys) n.2029A>G | |
12 | g.32611273A>T | CA384361252 | FGD4 | c.1328A>T (p.Tyr443Phe) c.1583A>T (p.Tyr528Phe) c.1049A>T (p.Tyr350Phe) c.140A>T (p.Tyr47Phe) n.835A>T c.1739A>T (p.Tyr580Phe) c.*720A>T (n.*720A>T) c.*739A>T (n.*739A>T) c.917A>T c.1664A>T (p.Tyr555Phe) c.*697A>T (n.*697A>T) c.584A>T (p.Tyr195Phe) c.296A>T (p.Tyr99Phe) c.1820A>T (p.Tyr607Phe) c.1622A>T (p.Tyr541Phe) c.776A>T (p.Tyr259Phe) c.731A>T (p.Tyr244Phe) c.563A>T (p.Tyr188Phe) c.437A>T (p.Tyr146Phe) n.2029A>T | |
12 | g.32611274C>A | CA10603250 | FGD4 | c.1329C>A (p.Tyr443Ter) c.1584C>A (p.Tyr528Ter) c.1050C>A (p.Tyr350Ter) c.141C>A (p.Tyr47Ter) n.836C>A c.1740C>A (p.Tyr580Ter) c.*721C>A (n.*721C>A) c.*740C>A (n.*740C>A) c.918C>A c.1665C>A (p.Tyr555Ter) c.*698C>A (n.*698C>A) c.585C>A (p.Tyr195Ter) c.297C>A (p.Tyr99Ter) c.1821C>A (p.Tyr607Ter) c.1623C>A (p.Tyr541Ter) c.777C>A (p.Tyr259Ter) c.732C>A (p.Tyr244Ter) c.564C>A (p.Tyr188Ter) c.438C>A (p.Tyr146Ter) n.2030C>A | ClinVar dbSNP |
12 | g.32611274C= | CA2026267835 | FGD4 | c.1329C= (p.Tyr443=) c.1584C= (p.Tyr528=) c.1050C= (p.Tyr350=) c.141C= (p.Tyr47=) n.836C= c.1740C= (p.Tyr580=) c.*721C= (n.*721C=) c.*740C= (n.*740C=) c.918C= c.1665C= (p.Tyr555=) c.*698C= (n.*698C=) c.585C= (p.Tyr195=) c.297C= (p.Tyr99=) c.1821C= (p.Tyr607=) c.1623C= (p.Tyr541=) c.777C= (p.Tyr259=) c.732C= (p.Tyr244=) c.564C= (p.Tyr188=) c.438C= (p.Tyr146=) n.2030C= | |
12 | g.32611274C>G | CA384361254 | FGD4 | c.1329C>G (p.Tyr443Ter) c.1584C>G (p.Tyr528Ter) c.1050C>G (p.Tyr350Ter) c.141C>G (p.Tyr47Ter) n.836C>G c.1740C>G (p.Tyr580Ter) c.*721C>G (n.*721C>G) c.*740C>G (n.*740C>G) c.918C>G c.1665C>G (p.Tyr555Ter) c.*698C>G (n.*698C>G) c.585C>G (p.Tyr195Ter) c.297C>G (p.Tyr99Ter) c.1821C>G (p.Tyr607Ter) c.1623C>G (p.Tyr541Ter) c.777C>G (p.Tyr259Ter) c.732C>G (p.Tyr244Ter) c.564C>G (p.Tyr188Ter) c.438C>G (p.Tyr146Ter) n.2030C>G | |
12 | g.32611274C>T | CA479167905 | FGD4 | c.1329C>T (p.Tyr443=) c.1584C>T (p.Tyr528=) c.1050C>T (p.Tyr350=) c.141C>T (p.Tyr47=) n.836C>T c.1740C>T (p.Tyr580=) c.*721C>T (n.*721C>T) c.*740C>T (n.*740C>T) c.918C>T c.1665C>T (p.Tyr555=) c.*698C>T (n.*698C>T) c.585C>T (p.Tyr195=) c.297C>T (p.Tyr99=) c.1821C>T (p.Tyr607=) c.1623C>T (p.Tyr541=) c.777C>T (p.Tyr259=) c.732C>T (p.Tyr244=) c.564C>T (p.Tyr188=) c.438C>T (p.Tyr146=) n.2030C>T | |
12 | g.32611275C>A | CA384361256 | FGD4 | c.1330C>A (p.Leu444Ile) c.1585C>A (p.Leu529Ile) c.1051C>A (p.Leu351Ile) c.142C>A (p.Leu48Ile) n.837C>A c.1741C>A (p.Leu581Ile) c.*722C>A (n.*722C>A) c.*741C>A (n.*741C>A) c.919C>A c.1666C>A (p.Leu556Ile) c.*699C>A (n.*699C>A) c.586C>A (p.Leu196Ile) c.298C>A (p.Leu100Ile) c.1822C>A (p.Leu608Ile) c.1624C>A (p.Leu542Ile) c.778C>A (p.Leu260Ile) c.733C>A (p.Leu245Ile) c.565C>A (p.Leu189Ile) c.439C>A (p.Leu147Ile) n.2031C>A | |
12 | g.32611275C>G | CA384361259 | FGD4 | c.1330C>G (p.Leu444Val) c.1585C>G (p.Leu529Val) c.1051C>G (p.Leu351Val) c.142C>G (p.Leu48Val) n.837C>G c.1741C>G (p.Leu581Val) c.*722C>G (n.*722C>G) c.*741C>G (n.*741C>G) c.919C>G c.1666C>G (p.Leu556Val) c.*699C>G (n.*699C>G) c.586C>G (p.Leu196Val) c.298C>G (p.Leu100Val) c.1822C>G (p.Leu608Val) c.1624C>G (p.Leu542Val) c.778C>G (p.Leu260Val) c.733C>G (p.Leu245Val) c.565C>G (p.Leu189Val) c.439C>G (p.Leu147Val) n.2031C>G | |
12 | g.32611275C>T | CA384361261 | FGD4 | c.1330C>T (p.Leu444Phe) c.1585C>T (p.Leu529Phe) c.1051C>T (p.Leu351Phe) c.142C>T (p.Leu48Phe) n.837C>T c.1741C>T (p.Leu581Phe) c.*722C>T (n.*722C>T) c.*741C>T (n.*741C>T) c.919C>T c.1666C>T (p.Leu556Phe) c.*699C>T (n.*699C>T) c.586C>T (p.Leu196Phe) c.298C>T (p.Leu100Phe) c.1822C>T (p.Leu608Phe) c.1624C>T (p.Leu542Phe) c.778C>T (p.Leu260Phe) c.733C>T (p.Leu245Phe) c.565C>T (p.Leu189Phe) c.439C>T (p.Leu147Phe) n.2031C>T | |
12 | g.32611276T>A | CA384361264 | FGD4 | c.1331T>A (p.Leu444His) c.1586T>A (p.Leu529His) c.1052T>A (p.Leu351His) c.143T>A (p.Leu48His) n.838T>A c.1742T>A (p.Leu581His) c.*723T>A (n.*723T>A) c.*742T>A (n.*742T>A) c.920T>A c.1667T>A (p.Leu556His) c.*700T>A (n.*700T>A) c.587T>A (p.Leu196His) c.299T>A (p.Leu100His) c.1823T>A (p.Leu608His) c.1625T>A (p.Leu542His) c.779T>A (p.Leu260His) c.734T>A (p.Leu245His) c.566T>A (p.Leu189His) c.440T>A (p.Leu147His) n.2032T>A | |
12 | g.32611276T>C | CA384361266 | FGD4 | c.1331T>C (p.Leu444Pro) c.1586T>C (p.Leu529Pro) c.1052T>C (p.Leu351Pro) c.143T>C (p.Leu48Pro) n.838T>C c.1742T>C (p.Leu581Pro) c.*723T>C (n.*723T>C) c.*742T>C (n.*742T>C) c.920T>C c.1667T>C (p.Leu556Pro) c.*700T>C (n.*700T>C) c.587T>C (p.Leu196Pro) c.299T>C (p.Leu100Pro) c.1823T>C (p.Leu608Pro) c.1625T>C (p.Leu542Pro) c.779T>C (p.Leu260Pro) c.734T>C (p.Leu245Pro) c.566T>C (p.Leu189Pro) c.440T>C (p.Leu147Pro) n.2032T>C | |
12 | g.32611276T>G | CA384361267 | FGD4 | c.1331T>G (p.Leu444Arg) c.1586T>G (p.Leu529Arg) c.1052T>G (p.Leu351Arg) c.143T>G (p.Leu48Arg) n.838T>G c.1742T>G (p.Leu581Arg) c.*723T>G (n.*723T>G) c.*742T>G (n.*742T>G) c.920T>G c.1667T>G (p.Leu556Arg) c.*700T>G (n.*700T>G) c.587T>G (p.Leu196Arg) c.299T>G (p.Leu100Arg) c.1823T>G (p.Leu608Arg) c.1625T>G (p.Leu542Arg) c.779T>G (p.Leu260Arg) c.734T>G (p.Leu245Arg) c.566T>G (p.Leu189Arg) c.440T>G (p.Leu147Arg) n.2032T>G | |
12 | g.32611279del | CA2618214721 | FGD4 | c.1334del (p.Phe445SerfsTer17) c.1589del (p.Phe530SerfsTer17) c.1055del (p.Phe352SerfsTer17) c.146del (p.Phe49SerfsTer17) n.841del c.1745del (p.Phe582SerfsTer17) c.*726del (n.*726del) c.*745del (n.*745del) c.923del c.1670del (p.Phe557SerfsTer17) c.*703del (n.*703del) c.590del (p.Phe197SerfsTer17) c.302del (p.Phe101SerfsTer17) c.1826del (p.Phe609SerfsTer17) c.1628del (p.Phe543SerfsTer17) c.782del (p.Phe261SerfsTer17) c.737del (p.Phe246SerfsTer17) c.569del (p.Phe190SerfsTer17) c.443del (p.Phe148SerfsTer17) n.2035del | gnomAD v4 |
12 | g.32611277T>A | CA479167907 | FGD4 | c.1332T>A (p.Leu444=) c.1587T>A (p.Leu529=) c.1053T>A (p.Leu351=) c.144T>A (p.Leu48=) n.839T>A c.1743T>A (p.Leu581=) c.*724T>A (n.*724T>A) c.*743T>A (n.*743T>A) c.921T>A c.1668T>A (p.Leu556=) c.*701T>A (n.*701T>A) c.588T>A (p.Leu196=) c.300T>A (p.Leu100=) c.1824T>A (p.Leu608=) c.1626T>A (p.Leu542=) c.780T>A (p.Leu260=) c.735T>A (p.Leu245=) c.567T>A (p.Leu189=) c.441T>A (p.Leu147=) n.2033T>A | |
12 | g.32611277T>C | CA479167908 | FGD4 | c.1332T>C (p.Leu444=) c.1587T>C (p.Leu529=) c.1053T>C (p.Leu351=) c.144T>C (p.Leu48=) n.839T>C c.1743T>C (p.Leu581=) c.*724T>C (n.*724T>C) c.*743T>C (n.*743T>C) c.921T>C c.1668T>C (p.Leu556=) c.*701T>C (n.*701T>C) c.588T>C (p.Leu196=) c.300T>C (p.Leu100=) c.1824T>C (p.Leu608=) c.1626T>C (p.Leu542=) c.780T>C (p.Leu260=) c.735T>C (p.Leu245=) c.567T>C (p.Leu189=) c.441T>C (p.Leu147=) n.2033T>C | |
12 | g.32611277T>G | CA479167906 | FGD4 | c.1332T>G (p.Leu444=) c.1587T>G (p.Leu529=) c.1053T>G (p.Leu351=) c.144T>G (p.Leu48=) n.839T>G c.1743T>G (p.Leu581=) c.*724T>G (n.*724T>G) c.*743T>G (n.*743T>G) c.921T>G c.1668T>G (p.Leu556=) c.*701T>G (n.*701T>G) c.588T>G (p.Leu196=) c.300T>G (p.Leu100=) c.1824T>G (p.Leu608=) c.1626T>G (p.Leu542=) c.780T>G (p.Leu260=) c.735T>G (p.Leu245=) c.567T>G (p.Leu189=) c.441T>G (p.Leu147=) n.2033T>G |