NC_000012.12:g.(?_32598477)_(32598606_?)del
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NC_000012.12:g.(?_32633539)_(32640543_?)dup
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NM_001304481.1(FGD4):c.112A>T (p.Ile38Leu)
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rs886049253 |
NM_001304481.1(FGD4):c.1488_1490AGA[3] (p.Glu499del)
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rs1264651352 |
NM_001304481.1(FGD4):c.1881_1882AG[1] (p.Glu628fs)
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rs1565921326 |
NM_001304481.1(FGD4):c.2132_2136AAAAG[2] (p.Lys715fs)
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rs751035912 |
NM_001304481.1(FGD4):c.220C>A (p.Pro74Thr)
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rs199744649 |
NM_001304481.1(FGD4):c.8del (p.Gly3fs)
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rs1357153004 |
NM_139241.3(FGD4):c.*1006C>T
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rs886049260 |
NM_139241.3(FGD4):c.*1160G>A
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rs540745195 |
NM_139241.3(FGD4):c.*1259A>G
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NM_139241.3(FGD4):c.*1274G>A
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rs570269532 |
NM_139241.3(FGD4):c.*131A>G
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NM_139241.3(FGD4):c.*1351A>T
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NM_139241.3(FGD4):c.*1354A>G
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rs886049261 |
NM_139241.3(FGD4):c.*1356T>G
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rs886049262 |
NM_139241.3(FGD4):c.*1365T>C
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NM_139241.3(FGD4):c.*1375C>T
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NM_139241.3(FGD4):c.*1485T>C
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rs55970127 |
NM_139241.3(FGD4):c.*1530T>C
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NM_139241.3(FGD4):c.*1704C>G
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rs886049263 |
NM_139241.3(FGD4):c.*1781G>A
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rs886049264 |
NM_139241.3(FGD4):c.*1866T>G
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rs886049265 |
NM_139241.3(FGD4):c.*1908G>C
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rs886049266 |
NM_139241.3(FGD4):c.*2026A>G
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rs765502938 |
NM_139241.3(FGD4):c.*2096T>A
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NM_139241.3(FGD4):c.*2192G>A
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NM_139241.3(FGD4):c.*2264G>A
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NM_139241.3(FGD4):c.*2309G>A
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NM_139241.3(FGD4):c.*2374G>T
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rs753715337 |
NM_139241.3(FGD4):c.*2462C>A
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rs575272682 |
NM_139241.3(FGD4):c.*2487C>A
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NM_139241.3(FGD4):c.*2648G>A
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NM_139241.3(FGD4):c.*2813C>T
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rs148195158 |
NM_139241.3(FGD4):c.*2859G>A
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NM_139241.3(FGD4):c.*3022A>G
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NM_139241.3(FGD4):c.*3037C>A
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rs886049267 |
NM_139241.3(FGD4):c.*3044T>C
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rs747748956 |
NM_139241.3(FGD4):c.*3113_*3114TA[4]
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rs57627640 |
NM_139241.3(FGD4):c.*3113_*3114TA[6]
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rs57627640 |
NM_139241.3(FGD4):c.*3150A>G
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rs542871416 |
NM_139241.3(FGD4):c.*3195T>G
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NM_139241.3(FGD4):c.*3438C>T
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rs886049269 |
NM_139241.3(FGD4):c.*3482G>T
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rs886049270 |
NM_139241.3(FGD4):c.*3543G>C
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NM_139241.3(FGD4):c.*368T>C
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NM_139241.3(FGD4):c.*3814A>G
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rs886049271 |
NM_139241.3(FGD4):c.*3894_*3895del
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rs780175220 |
NM_139241.3(FGD4):c.*3905A>G
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rs886049273 |
NM_139241.3(FGD4):c.*3937A>G
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NM_139241.3(FGD4):c.*3940G>A
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NM_139241.3(FGD4):c.*3994A>G
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NM_139241.3(FGD4):c.*4118G>A
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NM_139241.3(FGD4):c.*411A>G
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rs886049256 |
NM_139241.3(FGD4):c.*4268A>G
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rs542163387 |
NM_139241.3(FGD4):c.*4317T>G
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NM_139241.3(FGD4):c.*4347T>C
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NM_139241.3(FGD4):c.*4446A>G
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NM_139241.3(FGD4):c.*4756A>G
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rs763037960 |
NM_139241.3(FGD4):c.*4772dup
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rs567814235 |
NM_139241.3(FGD4):c.*4832G>A
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NM_139241.3(FGD4):c.*4862C>A
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rs886049275 |
NM_139241.3(FGD4):c.*4925A>T
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rs886049276 |
NM_139241.3(FGD4):c.*4977G>C
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rs575914495 |
NM_139241.3(FGD4):c.*497T>C
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rs886049257 |
NM_139241.3(FGD4):c.*5020G>C
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rs886049277 |
NM_139241.3(FGD4):c.*5072A>G
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rs886049278 |
NM_139241.3(FGD4):c.*5152C>T
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rs886049279 |
NM_139241.3(FGD4):c.*5153G>A
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NM_139241.3(FGD4):c.*5177G>A
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rs777896036 |
NM_139241.3(FGD4):c.*5223G>A
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rs886049280 |
NM_139241.3(FGD4):c.*5243C>T
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NM_139241.3(FGD4):c.*5265A>G
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NM_139241.3(FGD4):c.*5309C>T
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rs556209722 |
NM_139241.3(FGD4):c.*5321G>A
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NM_139241.3(FGD4):c.*5329G>C
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rs886049281 |
NM_139241.3(FGD4):c.*5389A>G
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NM_139241.3(FGD4):c.*5484T>C
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rs577630567 |
NM_139241.3(FGD4):c.*69T>C
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NM_139241.3(FGD4):c.*712C>T
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NM_139241.3(FGD4):c.*734G>A
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rs886049258 |
NM_139241.3(FGD4):c.*762G>T
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rs886049259 |
NM_139241.3(FGD4):c.*795G>A
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rs112398567 |
NM_139241.3(FGD4):c.-246+9C>T
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rs531501340 |
NM_139241.3(FGD4):c.-289A>G
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rs56168193 |
NM_139241.3(FGD4):c.-370G>A
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rs184708096 |
NM_139241.3(FGD4):c.-421A>C
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rs192626243 |
NM_139241.3(FGD4):c.-433C>G
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NM_139241.3(FGD4):c.-447T>C
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rs886049252 |
NM_139241.3(FGD4):c.-448C>G
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NM_139241.3(FGD4):c.-455C>A
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NM_139241.3(FGD4):c.1033A>G (p.Met345Val)
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rs1404084092 |
NM_139241.3(FGD4):c.1043C>A (p.Pro348His)
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NM_139241.3(FGD4):c.1061G>A (p.Arg354Gln)
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rs1415031307 |
NM_139241.3(FGD4):c.1080G>T (p.Lys360Asn)
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NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr)
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rs755934741 |
NM_139241.3(FGD4):c.1103C>T (p.Pro368Leu)
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NM_139241.3(FGD4):c.1132+13T>C
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rs762177862 |
NM_139241.3(FGD4):c.1132+1G>A
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rs1592388367 |
NM_139241.3(FGD4):c.1135T>G (p.Ser379Ala)
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rs1396328756 |
NM_139241.3(FGD4):c.1175G>A (p.Ser392Asn)
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rs781528826 |
NM_139241.3(FGD4):c.1191+6T>C
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NM_139241.3(FGD4):c.1192-9A>G
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rs1555217855 |
NM_139241.3(FGD4):c.1192G>A (p.Glu398Lys)
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rs756885149 |
NM_139241.3(FGD4):c.1194G>T (p.Glu398Asp)
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NM_139241.3(FGD4):c.1198C>G (p.Leu400Val)
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rs750265200 |
NM_139241.3(FGD4):c.1246A>G (p.Ile416Val)
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rs1060501903 |
NM_139241.3(FGD4):c.1256C>T (p.Pro419Leu)
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NM_139241.3(FGD4):c.1258T>A (p.Ser420Thr)
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rs759385629 |
NM_139241.3(FGD4):c.1324C>T (p.Arg442Cys)
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NM_139241.3(FGD4):c.1325G>A (p.Arg442His)
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rs281865063 |
NM_139241.3(FGD4):c.1327T>C (p.Tyr443His)
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rs1555217941 |
NM_139241.3(FGD4):c.1338+3G>A
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rs542398408 |
NM_139241.3(FGD4):c.1348A>G (p.Met450Val)
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rs201186597 |
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr)
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rs138160928 |
NM_139241.3(FGD4):c.1429A>C (p.Lys477Gln)
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NM_139241.3(FGD4):c.1511+4A>G
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rs760192025 |
NM_139241.3(FGD4):c.1525_1527del (p.Lys509del)
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rs1565920164 |
NM_139241.3(FGD4):c.1562A>G (p.Asp521Gly)
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rs141237776 |
NM_139241.3(FGD4):c.1564G>A (p.Ala522Thr)
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NM_139241.3(FGD4):c.1569T>C (p.Phe523=)
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NM_139241.3(FGD4):c.1619T>G (p.Ile540Ser)
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NM_139241.3(FGD4):c.1624T>A (p.Ser542Thr)
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rs150746174 |
NM_139241.3(FGD4):c.1630G>A (p.Val544Ile)
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NM_139241.3(FGD4):c.1692G>A (p.Met564Ile)
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rs1267580970 |
NM_139241.3(FGD4):c.1698G>A (p.Met566Ile)
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rs281865064 |
NM_139241.3(FGD4):c.1706A>G (p.Lys569Arg)
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NM_139241.3(FGD4):c.1711C>G (p.Pro571Ala)
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rs144693221 |
NM_139241.3(FGD4):c.1711C>T (p.Pro571Ser)
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rs144693221 |
NM_139241.3(FGD4):c.1712C>A (p.Pro571His)
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rs145071617 |
NM_139241.3(FGD4):c.1761+12T>G
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NM_139241.3(FGD4):c.1762-2A>G
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rs281865065 |
NM_139241.3(FGD4):c.1772G>A (p.Trp591Ter)
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rs1592488602 |
NM_139241.3(FGD4):c.1814G>A (p.Gly605Asp)
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rs886049255 |
NM_139241.3(FGD4):c.182C>T (p.Thr61Ile)
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NM_139241.3(FGD4):c.1832G>T (p.Cys611Phe)
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NM_139241.3(FGD4):c.1838A>C (p.Asp613Ala)
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NM_139241.3(FGD4):c.184C>T (p.Pro62Ser)
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rs1555209302 |
NM_139241.3(FGD4):c.185C>T (p.Pro62Leu)
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NM_139241.3(FGD4):c.1877A>T (p.Glu626Val)
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rs1484964809 |
NM_139241.3(FGD4):c.1878A>C (p.Glu626Asp)
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NM_139241.3(FGD4):c.1886_1889del (p.Arg629fs)
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rs1592489096 |
NM_139241.3(FGD4):c.1890_1894del (p.Lys630fs)
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rs1592489165 |
NM_139241.3(FGD4):c.1929C>A (p.Asn643Lys)
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rs1555224749 |
NM_139241.3(FGD4):c.192A>G (p.Gln64=)
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rs771558628 |
NM_139241.3(FGD4):c.1934T>C (p.Val645Ala)
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rs1296247975 |
NM_139241.3(FGD4):c.196CTC[1] (p.Leu67del)
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NM_139241.3(FGD4):c.1991G>C (p.Cys664Ser)
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rs749404822 |
NM_139241.3(FGD4):c.199C>G (p.Leu67Val)
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NM_139241.3(FGD4):c.2014C>G (p.Leu672Val)
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NM_139241.3(FGD4):c.2041del (p.Gln681fs)
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rs1060501904 |
NM_139241.3(FGD4):c.2088G>A (p.Val696=)
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NM_139241.3(FGD4):c.2095A>G (p.Met699Val)
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rs140220443 |
NM_139241.3(FGD4):c.20C>G (p.Ala7Gly)
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NM_139241.3(FGD4):c.2101A>G (p.Arg701Gly)
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rs756201273 |
NM_139241.3(FGD4):c.2143A>G (p.Lys715Glu)
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NM_139241.3(FGD4):c.2149G>A (p.Val717Met)
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rs61753359 |
NM_139241.3(FGD4):c.2149G>T (p.Val717Leu)
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NM_139241.3(FGD4):c.2179C>G (p.Leu727Val)
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rs1592515601 |
NM_139241.3(FGD4):c.2180T>A (p.Leu727Gln)
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rs1592515619 |
NM_139241.3(FGD4):c.2186A>G (p.Gln729Arg)
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rs777302433 |
NM_139241.3(FGD4):c.2197A>G (p.Lys733Glu)
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rs746459196 |
NM_139241.3(FGD4):c.2199A>C (p.Lys733Asn)
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rs770729087 |
NM_139241.3(FGD4):c.227G>A (p.Gly76Glu)
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NM_139241.3(FGD4):c.255A>T (p.Ala85=)
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rs139357821 |
NM_139241.3(FGD4):c.263G>A (p.Cys88Tyr)
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NM_139241.3(FGD4):c.272A>G (p.Asn91Ser)
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NM_139241.3(FGD4):c.297G>T (p.Gln99His)
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NM_139241.3(FGD4):c.308_322del (p.Glu103_Ala107del)
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rs1314855895 |
NM_139241.3(FGD4):c.310G>A (p.Glu104Lys)
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rs752621629 |
NM_139241.3(FGD4):c.316A>G (p.Lys106Glu)
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NM_139241.3(FGD4):c.322G>A (p.Ala108Thr)
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NM_139241.3(FGD4):c.329T>C (p.Leu110Pro)
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rs142609007 |
NM_139241.3(FGD4):c.374C>G (p.Thr125Arg)
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rs200732890 |
NM_139241.3(FGD4):c.374C>T (p.Thr125Met)
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rs200732890 |
NM_139241.3(FGD4):c.379A>G (p.Ile127Val)
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NM_139241.3(FGD4):c.381A>G (p.Ile127Met)
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rs774466701 |
NM_139241.3(FGD4):c.397G>A (p.Asp133Asn)
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NM_139241.3(FGD4):c.398A>G (p.Asp133Gly)
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rs759415605 |
NM_139241.3(FGD4):c.427A>G (p.Thr143Ala)
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NM_139241.3(FGD4):c.437G>T (p.Ser146Ile)
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rs1208033042 |
NM_139241.3(FGD4):c.443A>T (p.Asp148Val)
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rs1565869688 |
NM_139241.3(FGD4):c.460A>G (p.Ser154Gly)
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NM_139241.3(FGD4):c.479G>A (p.Gly160Asp)
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rs201826412 |
NM_139241.3(FGD4):c.50C>G (p.Pro17Arg)
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rs371407163 |
NM_139241.3(FGD4):c.514dup (p.Ala172fs)
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rs1565869918 |
NM_139241.3(FGD4):c.539A>G (p.Glu180Gly)
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rs1452437045 |
NM_139241.3(FGD4):c.542G>A (p.Arg181Lys)
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rs750143546 |
NM_139241.3(FGD4):c.544G>A (p.Glu182Lys)
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rs1592295272 |
NM_139241.3(FGD4):c.547A>G (p.Asn183Asp)
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NM_139241.3(FGD4):c.569T>A (p.Leu190Gln)
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rs144980336 |
NM_139241.3(FGD4):c.569T>C (p.Leu190Pro)
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rs144980336 |
NM_139241.3(FGD4):c.573G>T (p.Glu191Asp)
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NM_139241.3(FGD4):c.58G>A (p.Val20Ile)
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rs755068251 |
NM_139241.3(FGD4):c.593A>G (p.Glu198Gly)
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rs1304257221 |
NM_139241.3(FGD4):c.597G>C (p.Met199Ile)
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rs1592295526 |
NM_139241.3(FGD4):c.61T>C (p.Ser21Pro)
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NM_139241.3(FGD4):c.635A>G (p.Asn212Ser)
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rs147969494 |
NM_139241.3(FGD4):c.667A>C (p.Asn223His)
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rs761788290 |
NM_139241.3(FGD4):c.671G>A (p.Arg224Gln)
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rs903824731 |
NM_139241.3(FGD4):c.690+6A>T
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NM_139241.3(FGD4):c.691-5T>A
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NM_139241.3(FGD4):c.731C>T (p.Ser244Leu)
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NM_139241.3(FGD4):c.740C>T (p.Ala247Val)
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rs1295394925 |
NM_139241.3(FGD4):c.76C>T (p.Arg26Cys)
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rs758603361 |
NM_139241.3(FGD4):c.837-1G>A
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rs1592368399 |
NM_139241.3(FGD4):c.837-2A>G
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rs1592368395 |
NM_139241.3(FGD4):c.852A>G (p.Arg284=)
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rs773609461 |
NM_139241.3(FGD4):c.88_90dup (p.Gly30dup)
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NM_139241.3(FGD4):c.893T>C (p.Met298Thr)
|
rs63749871 |
NM_139241.3(FGD4):c.893T>G (p.Met298Arg)
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rs63749871 |
NM_139241.3(FGD4):c.894G>T (p.Met298Ile)
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NM_139241.3(FGD4):c.955C>T (p.Arg319Cys)
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rs1131691854 |
NM_139241.3(FGD4):c.956G>A (p.Arg319His)
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rs533939591 |
NM_139241.3(FGD4):c.95C>T (p.Ser32Leu)
|
rs143251785 |
NM_139241.3(FGD4):c.993+4A>T
|
rs767855809 |
NM_139241.3(FGD4):c.993+5T>C
|
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NM_139241.3(FGD4):c.994-4A>G
|
rs886049254 |