NM_031206.7(LAS1L):c.1735G>A (p.Val579Ile)
|
rs200862250
|
0.00019
|
NM_005765.3(ATP6AP2):c.463C>T (p.Arg155Cys)
|
rs146371390
|
0.00018
|
NM_005120.3(MED12):c.6235A>G (p.Ile2079Val)
|
rs200820997
|
0.00017
|
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn)
|
rs782577519
|
0.00015
|
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg)
|
rs201989363
|
0.00013
|
NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser)
|
rs766355858
|
0.00013
|
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp)
|
rs749401561
|
0.00013
|
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg)
|
rs747124369
|
0.00012
|
NM_005765.3(ATP6AP2):c.19C>T (p.Leu7Phe)
|
rs765852654
|
0.00012
|
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)
|
rs142013283
|
0.00011
|
NM_005765.3(ATP6AP2):c.539A>G (p.Asp180Gly)
|
rs748977074
|
0.00011
|
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu)
|
rs372445055
|
0.00011
|
NM_006950.3(SYN1):c.526C>T (p.Arg176Trp)
|
rs769458536
|
0.00010
|
NM_031206.7(LAS1L):c.1705A>G (p.Lys569Glu)
|
rs1006077682
|
0.00010
|
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu)
|
rs200126728
|
0.00009
|
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His)
|
rs756818874
|
0.00009
|
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr)
|
rs370078729
|
0.00009
|
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr)
|
rs186554435
|
0.00009
|
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala)
|
rs727504067
|
0.00009
|
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His)
|
rs756836341
|
0.00009
|
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile)
|
rs201764553
|
0.00007
|
NM_006950.3(SYN1):c.506G>A (p.Arg169Gln)
|
rs775109362
|
0.00007
|
NM_031206.7(LAS1L):c.754G>A (p.Val252Met)
|
rs762043715
|
0.00007
|
NM_031206.7(LAS1L):c.940G>A (p.Val314Ile)
|
rs137948118
|
0.00007
|
NM_080632.3(UPF3B):c.1102C>T (p.Arg368Trp)
|
rs374676402
|
0.00007
|
NM_000489.6(ATRX):c.189G>A (p.Glu63=)
|
rs587778082
|
0.00006
|
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met)
|
rs779051005
|
0.00006
|
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys)
|
rs746274631
|
0.00006
|
NM_006950.3(SYN1):c.1370C>A (p.Ala457Asp)
|
rs781533684
|
0.00006
|
NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser)
|
rs371187842
|
0.00005
|
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser)
|
rs763745318
|
0.00005
|
NM_001184880.2(PCDH19):c.2118C>A (p.Asp706Glu)
|
rs1325807867
|
0.00005
|
NM_001184880.2(PCDH19):c.2939G>A (p.Arg980His)
|
rs368872920
|
0.00005
|
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val)
|
rs189342249
|
0.00005
|
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser)
|
rs777494666
|
0.00005
|
NM_005120.3(MED12):c.4253+4G>A
|
rs750162341
|
0.00005
|
NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln)
|
rs138150013
|
0.00005
|
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg)
|
rs745748841
|
0.00005
|
NM_006950.3(SYN1):c.1345T>A (p.Ser449Thr)
|
rs796053394
|
0.00005
|
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu)
|
rs749342768
|
0.00005
|
NM_006950.3(SYN1):c.944G>A (p.Arg315His)
|
rs370854090
|
0.00005
|
NM_031206.7(LAS1L):c.1892G>C (p.Gly631Ala)
|
rs371394378
|
0.00005
|
NM_031206.7(LAS1L):c.937G>A (p.Gly313Ser)
|
rs745313876
|
0.00005
|
NM_000489.6(ATRX):c.1804G>A (p.Gly602Ser)
|
rs886044864
|
0.00004
|
NM_001110556.2(FLNA):c.4183C>T (p.Pro1395Ser)
|
rs782161982
|
0.00004
|
NM_001110556.2(FLNA):c.621G>A (p.Pro207=)
|
rs200632859
|
0.00004
|
NM_001184880.2(PCDH19):c.1684G>A (p.Val562Ile)
|
rs755456420
|
0.00004
|
NM_001184880.2(PCDH19):c.1841T>G (p.Phe614Cys)
|
rs759085956
|
0.00004
|
NM_001184880.2(PCDH19):c.2176G>A (p.Gly726Ser)
|
rs771012472
|
0.00004
|
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser)
|
rs796052790
|
0.00004
|
NM_001184880.2(PCDH19):c.2480G>A (p.Arg827His)
|
rs371323886
|
0.00004
|
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val)
|
rs371109150
|
0.00004
|
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys)
|
rs369647740
|
0.00004
|
NM_005120.3(MED12):c.1744+4C>T
|
rs780750721
|
0.00004
|
NM_005120.3(MED12):c.3691+4C>T
|
rs373381746
|
0.00004
|
NM_005120.3(MED12):c.5135G>A (p.Arg1712Gln)
|
rs1196582695
|
0.00004
|
NM_005120.3(MED12):c.5966G>A (p.Arg1989His)
|
rs1569482448
|
0.00004
|
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser)
|
rs772106134
|
0.00004
|
NM_006950.3(SYN1):c.371C>T (p.Thr124Ile)
|
rs1339768860
|
0.00004
|
NM_006950.3(SYN1):c.946G>A (p.Val316Ile)
|
rs770266055
|
0.00004
|
NM_016032.4(ZDHHC9):c.881+3G>A
|
rs775743190
|
0.00004
|
NM_080632.3(UPF3B):c.277A>G (p.Met93Val)
|
rs770557726
|
0.00004
|
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu)
|
rs1394070657
|
0.00003
|
NM_000489.6(ATRX):c.2730G>C (p.Lys910Asn)
|
rs1206627354
|
0.00003
|
NM_000489.6(ATRX):c.4366G>A (p.Glu1456Lys)
|
rs782646619
|
0.00003
|
NM_001015877.2(PHF6):c.342A>C (p.Gln114His)
|
rs1303947958
|
0.00003
|
NM_001110556.2(FLNA):c.2943G>C (p.Glu981Asp)
|
rs782755538
|
0.00003
|
NM_001110556.2(FLNA):c.3368C>G (p.Ser1123Cys)
|
rs782361719
|
0.00003
|
NM_001110556.2(FLNA):c.4154C>T (p.Thr1385Met)
|
rs1273044438
|
0.00003
|
NM_001110556.2(FLNA):c.4474+3G>A
|
rs1286863443
|
0.00003
|
NM_001110556.2(FLNA):c.4540A>G (p.Ser1514Gly)
|
rs1259214889
|
0.00003
|
NM_001110556.2(FLNA):c.5219C>T (p.Ala1740Val)
|
rs782714867
|
0.00003
|
NM_001110556.2(FLNA):c.6197C>T (p.Ala2066Val)
|
rs2067633292
|
0.00003
|
NM_001110556.2(FLNA):c.7059T>G (p.Phe2353Leu)
|
rs864622713
|
0.00003
|
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)
|
rs369791082
|
0.00003
|
NM_001184880.2(PCDH19):c.2125G>C (p.Glu709Gln)
|
rs983417935
|
0.00003
|
NM_001184880.2(PCDH19):c.2417C>T (p.Ser806Phe)
|
rs756871980
|
0.00003
|
NM_001184880.2(PCDH19):c.2564G>A (p.Ser855Asn)
|
rs796052824
|
0.00003
|
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp)
|
rs774986147
|
0.00003
|
NM_001184880.2(PCDH19):c.482T>C (p.Phe161Ser)
|
rs371028786
|
0.00003
|
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg)
|
rs796052803
|
0.00003
|
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met)
|
rs755403368
|
0.00003
|
NM_001184880.2(PCDH19):c.922G>A (p.Glu308Lys)
|
rs775309866
|
0.00003
|
NM_001353921.2(ARHGEF9):c.261G>T (p.Gln87His)
|
rs373001354
|
0.00003
|
NM_001353921.2(ARHGEF9):c.949G>A (p.Glu317Lys)
|
rs782166488
|
0.00003
|
NM_005120.3(MED12):c.1619G>A (p.Arg540His)
|
rs774363039
|
0.00003
|
NM_005120.3(MED12):c.448A>G (p.Thr150Ala)
|
rs758980420
|
0.00003
|
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro)
|
rs755793630
|
0.00003
|
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His)
|
rs184634552
|
0.00003
|
NM_006950.3(SYN1):c.1493C>T (p.Pro498Leu)
|
rs1198466921
|
0.00003
|
NM_006950.3(SYN1):c.430G>A (p.Glu144Lys)
|
rs771860069
|
0.00003
|
NM_006950.3(SYN1):c.580C>T (p.Arg194Cys)
|
rs138985151
|
0.00003
|
NM_016032.4(ZDHHC9):c.929G>A (p.Arg310Gln)
|
rs753387074
|
0.00003
|
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)
|
rs754982440
|
0.00003
|
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys)
|
rs1418531949
|
0.00002
|
NM_000489.6(ATRX):c.3328T>C (p.Ser1110Pro)
|
rs782698480
|
0.00002
|
NM_000489.6(ATRX):c.3477G>C (p.Glu1159Asp)
|
rs915523218
|
0.00002
|
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg)
|
rs1064796812
|
0.00002
|
NM_001015877.2(PHF6):c.176A>G (p.Asn59Ser)
|
rs202007952
|
0.00002
|
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met)
|
rs767406620
|
0.00002
|
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr)
|
rs757649304
|
0.00002
|
NM_001079872.2(CUL4B):c.63A>T (p.Arg21Ser)
|
rs757541076
|
0.00002
|
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)
|
rs1489530369
|
0.00002
|
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu)
|
rs782434140
|
0.00002
|
NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln)
|
rs782539251
|
0.00002
|
NM_001110556.2(FLNA):c.1991G>A (p.Arg664His)
|
rs1271495778
|
0.00002
|
NM_001110556.2(FLNA):c.2179G>A (p.Gly727Ser)
|
rs1460177575
|
0.00002
|
NM_001110556.2(FLNA):c.2437G>A (p.Gly813Arg)
|
rs782276414
|
0.00002
|
NM_001110556.2(FLNA):c.2483G>A (p.Arg828His)
|
rs1347740802
|
0.00002
|
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)
|
rs1191721014
|
0.00002
|
NM_001110556.2(FLNA):c.6079G>A (p.Gly2027Ser)
|
rs1557176152
|
0.00002
|
NM_001110556.2(FLNA):c.61G>T (p.Val21Phe)
|
rs1223954254
|
0.00002
|
NM_001110556.2(FLNA):c.7157A>G (p.Asp2386Gly)
|
rs371563857
|
0.00002
|
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala)
|
rs746891808
|
0.00002
|
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg)
|
rs777851773
|
0.00002
|
NM_001184880.2(PCDH19):c.1384G>A (p.Val462Met)
|
rs200637767
|
0.00002
|
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val)
|
rs796052818
|
0.00002
|
NM_001184880.2(PCDH19):c.2234T>C (p.Ile745Thr)
|
rs369703205
|
0.00002
|
NM_001184880.2(PCDH19):c.2250C>A (p.Asp750Glu)
|
rs778640450
|
0.00002
|
NM_001184880.2(PCDH19):c.2264A>C (p.Glu755Ala)
|
rs754791297
|
0.00002
|
NM_001184880.2(PCDH19):c.2372G>A (p.Arg791Gln)
|
rs886042264
|
0.00002
|
NM_001184880.2(PCDH19):c.2516A>G (p.Asn839Ser)
|
rs781315243
|
0.00002
|
NM_001184880.2(PCDH19):c.2641A>C (p.Asn881His)
|
rs373996202
|
0.00002
|
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser)
|
rs796052823
|
0.00002
|
NM_001184880.2(PCDH19):c.2798A>G (p.Asp933Gly)
|
rs369379155
|
0.00002
|
NM_001184880.2(PCDH19):c.2872C>T (p.Arg958Trp)
|
rs1309638639
|
0.00002
|
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys)
|
rs1602567417
|
0.00002
|
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys)
|
rs375132545
|
0.00002
|
NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn)
|
rs794726899
|
0.00002
|
NM_001184880.2(PCDH19):c.571G>C (p.Val191Leu)
|
rs753757730
|
0.00002
|
NM_001184880.2(PCDH19):c.593G>A (p.Arg198His)
|
rs772837341
|
0.00002
|
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln)
|
rs200142964
|
0.00002
|
NM_001184880.2(PCDH19):c.851G>A (p.Arg284His)
|
rs749526030
|
0.00002
|
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu)
|
rs1396289338
|
0.00002
|
NM_001353921.2(ARHGEF9):c.254A>T (p.Asp85Val)
|
rs377326713
|
0.00002
|
NM_001353921.2(ARHGEF9):c.305G>A (p.Arg102Gln)
|
rs782087438
|
0.00002
|
NM_005120.3(MED12):c.1363C>T (p.Arg455Trp)
|
rs1268612180
|
0.00002
|
NM_005120.3(MED12):c.2227-4G>A
|
rs751157238
|
0.00002
|
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser)
|
rs863223704
|
0.00002
|
NM_005120.3(MED12):c.3693G>T (p.Gly1231=)
|
rs965896553
|
0.00002
|
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys)
|
rs1060502168
|
0.00002
|
NM_005120.3(MED12):c.4577A>G (p.Lys1526Arg)
|
rs774937112
|
0.00002
|
NM_005120.3(MED12):c.5585G>A (p.Arg1862His)
|
rs773713291
|
0.00002
|
NM_005120.3(MED12):c.6076A>G (p.Met2026Val)
|
rs1294140756
|
0.00002
|
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser)
|
rs901541873
|
0.00002
|
NM_005120.3(MED12):c.6218A>G (p.Gln2073Arg)
|
rs2092345351
|
0.00002
|
NM_005765.3(ATP6AP2):c.122G>A (p.Arg41Gln)
|
rs147857235
|
0.00002
|
NM_005765.3(ATP6AP2):c.158C>T (p.Ser53Phe)
|
rs759094089
|
0.00002
|
NM_005765.3(ATP6AP2):c.190G>A (p.Ala64Thr)
|
rs910550834
|
0.00002
|
NM_005765.3(ATP6AP2):c.262C>G (p.Leu88Val)
|
rs375148460
|
0.00002
|
NM_005765.3(ATP6AP2):c.469C>T (p.Arg157Cys)
|
rs138458908
|
0.00002
|
NM_006950.3(SYN1):c.1150A>G (p.Ile384Val)
|
rs772936641
|
0.00002
|
NM_006950.3(SYN1):c.439G>A (p.Glu147Lys)
|
rs201659924
|
0.00002
|
NM_006950.3(SYN1):c.473A>G (p.Asn158Ser)
|
rs765486966
|
0.00002
|
NM_006950.3(SYN1):c.505C>T (p.Arg169Trp)
|
rs762284940
|
0.00002
|
NM_006950.3(SYN1):c.565G>A (p.Ala189Thr)
|
rs2057893188
|
0.00002
|
NM_016032.4(ZDHHC9):c.1001C>T (p.Ser334Leu)
|
rs748573163
|
0.00002
|
NM_016032.4(ZDHHC9):c.160G>A (p.Ala54Thr)
|
rs1003990057
|
0.00002
|
NM_016032.4(ZDHHC9):c.331G>T (p.Ala111Ser)
|
rs753548428
|
0.00002
|
NM_016032.4(ZDHHC9):c.344C>T (p.Ala115Val)
|
rs1413588337
|
0.00002
|
NM_031206.7(LAS1L):c.1270G>A (p.Val424Ile)
|
rs761006702
|
0.00002
|
NM_031206.7(LAS1L):c.1282G>A (p.Val428Met)
|
rs1190754458
|
0.00002
|
NM_031206.7(LAS1L):c.1483G>A (p.Glu495Lys)
|
rs762931496
|
0.00002
|
NM_031206.7(LAS1L):c.715G>T (p.Asp239Tyr)
|
rs750436732
|
0.00002
|
NM_080632.3(UPF3B):c.1049G>A (p.Arg350Gln)
|
rs185347914
|
0.00002
|
NM_080632.3(UPF3B):c.1202G>A (p.Arg401Gln)
|
rs775993429
|
0.00002
|
NM_080632.3(UPF3B):c.1235C>T (p.Ser412Leu)
|
rs780652469
|
0.00002
|
NM_000489.6(ATRX):c.1111G>C (p.Val371Leu)
|
rs782128117
|
0.00001
|
NM_000489.6(ATRX):c.1202A>G (p.Asp401Gly)
|
rs2071414010
|
0.00001
|
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu)
|
rs951634317
|
0.00001
|
NM_000489.6(ATRX):c.1477C>T (p.His493Tyr)
|
rs1041529012
|
0.00001
|
NM_000489.6(ATRX):c.18G>A (p.Met6Ile)
|
rs2076734106
|
0.00001
|
NM_000489.6(ATRX):c.2057A>G (p.Lys686Arg)
|
rs1557140371
|
0.00001
|
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)
|
rs929951326
|
0.00001
|
NM_000489.6(ATRX):c.2116A>T (p.Ser706Cys)
|
rs918710917
|
0.00001
|
NM_000489.6(ATRX):c.224G>T (p.Gly75Val)
|
rs782198677
|
0.00001
|
NM_000489.6(ATRX):c.2292G>C (p.Leu764Phe)
|
rs1557139933
|
0.00001
|
NM_000489.6(ATRX):c.2389T>C (p.Ser797Pro)
|
rs782418110
|
0.00001
|
NM_000489.6(ATRX):c.2409T>G (p.Ile803Met)
|
rs782348869
|
0.00001
|
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg)
|
rs587778085
|
0.00001
|
NM_000489.6(ATRX):c.2695A>G (p.Thr899Ala)
|
rs2071278709
|
0.00001
|
NM_000489.6(ATRX):c.2761G>T (p.Val921Phe)
|
rs587778088
|
0.00001
|
NM_000489.6(ATRX):c.2794A>G (p.Thr932Ala)
|
rs1557138839
|
0.00001
|
NM_000489.6(ATRX):c.2890A>G (p.Ile964Val)
|
rs1271635013
|
0.00001
|
NM_000489.6(ATRX):c.3320G>A (p.Cys1107Tyr)
|
rs2071226540
|
0.00001
|
NM_000489.6(ATRX):c.3455G>T (p.Gly1152Val)
|
rs782023982
|
0.00001
|
NM_000489.6(ATRX):c.3884A>G (p.Glu1295Gly)
|
rs987127830
|
0.00001
|
NM_000489.6(ATRX):c.3905G>A (p.Arg1302Lys)
|
rs1557125110
|
0.00001
|
NM_000489.6(ATRX):c.4015A>G (p.Arg1339Gly)
|
rs782438788
|
0.00001
|
NM_000489.6(ATRX):c.4046A>T (p.Asp1349Val)
|
rs1557124086
|
0.00001
|
NM_000489.6(ATRX):c.4177G>C (p.Val1393Leu)
|
rs147331649
|
0.00001
|
NM_000489.6(ATRX):c.5068G>A (p.Ala1690Thr)
|
rs2068194249
|
0.00001
|
NM_000489.6(ATRX):c.5448+4C>T
|
rs1557098428
|
0.00001
|
NM_000489.6(ATRX):c.5786+5A>G
|
rs782475014
|
0.00001
|
NM_000489.6(ATRX):c.5965A>G (p.Thr1989Ala)
|
rs1438449392
|
0.00001
|
NM_000489.6(ATRX):c.6223G>A (p.Gly2075Arg)
|
rs1440854109
|
0.00001
|
NM_000489.6(ATRX):c.6241A>G (p.Ile2081Val)
|
rs1210447127
|
0.00001
|
NM_000489.6(ATRX):c.815C>G (p.Pro272Arg)
|
rs782487127
|
0.00001
|
NM_000489.6(ATRX):c.931C>T (p.His311Tyr)
|
rs2071433222
|
0.00001
|
NM_001015877.2(PHF6):c.122C>T (p.Ala41Val)
|
rs760978695
|
0.00001
|
NM_001015877.2(PHF6):c.247T>G (p.Ser83Ala)
|
rs762897039
|
0.00001
|
NM_001079872.2(CUL4B):c.1201A>C (p.Lys401Gln)
|
rs750866615
|
0.00001
|
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His)
|
rs755306871
|
0.00001
|
NM_001079872.2(CUL4B):c.889G>A (p.Val297Ile)
|
rs367660624
|
0.00001
|
NM_001110556.2(FLNA):c.1052C>T (p.Thr351Met)
|
rs1287585684
|
0.00001
|
NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr)
|
rs781805670
|
0.00001
|
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn)
|
rs782090266
|
0.00001
|
NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn)
|
rs781879374
|
0.00001
|
NM_001110556.2(FLNA):c.1430-3C>T
|
rs782813433
|
0.00001
|
NM_001110556.2(FLNA):c.1463G>A (p.Arg488Gln)
|
rs1315056698
|
0.00001
|
NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys)
|
rs1557178932
|
0.00001
|
NM_001110556.2(FLNA):c.1692-3C>T
|
rs781904011
|
0.00001
|
NM_001110556.2(FLNA):c.1742C>T (p.Ala581Val)
|
rs2067744394
|
0.00001
|
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)
|
rs1603362434
|
0.00001
|
NM_001110556.2(FLNA):c.1829-8G>A
|
rs782287295
|
0.00001
|
NM_001110556.2(FLNA):c.2033G>A (p.Arg678His)
|
rs924631524
|
0.00001
|
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)
|
rs1297013254
|
0.00001
|
NM_001110556.2(FLNA):c.2281-6_2281-2dup
|
rs782393225
|
0.00001
|
NM_001110556.2(FLNA):c.2281G>A (p.Val761Met)
|
rs375898586
|
0.00001
|
NM_001110556.2(FLNA):c.2413A>G (p.Ser805Gly)
|
rs1557178305
|
0.00001
|
NM_001110556.2(FLNA):c.2826+4G>A
|
rs1037180469
|
0.00001
|
NM_001110556.2(FLNA):c.2894T>C (p.Val965Ala)
|
rs2067712757
|
0.00001
|
NM_001110556.2(FLNA):c.3286G>A (p.Gly1096Ser)
|
rs782149159
|
0.00001
|
NM_001110556.2(FLNA):c.3299T>G (p.Leu1100Arg)
|
rs782307520
|
0.00001
|
NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met)
|
rs781970327
|
0.00001
|
NM_001110556.2(FLNA):c.3416T>G (p.Leu1139Arg)
|
rs782633080
|
0.00001
|
NM_001110556.2(FLNA):c.353G>A (p.Ser118Asn)
|
rs1406549914
|
0.00001
|
NM_001110556.2(FLNA):c.3650A>G (p.His1217Arg)
|
rs782148392
|
0.00001
|
NM_001110556.2(FLNA):c.374-3C>T
|
rs781994403
|
0.00001
|
NM_001110556.2(FLNA):c.3815G>A (p.Arg1272His)
|
rs2067691676
|
0.00001
|
NM_001110556.2(FLNA):c.3887G>A (p.Arg1296His)
|
rs863223623
|
0.00001
|
NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile)
|
rs782412141
|
0.00001
|
NM_001110556.2(FLNA):c.3979+4C>T
|
rs782681322
|
0.00001
|
NM_001110556.2(FLNA):c.4016C>T (p.Pro1339Leu)
|
rs1557177547
|
0.00001
|
NM_001110556.2(FLNA):c.4069C>T (p.Arg1357Trp)
|
rs373073505
|
0.00001
|
NM_001110556.2(FLNA):c.4243A>C (p.Ile1415Leu)
|
rs2067686132
|
0.00001
|
NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn)
|
rs863223617
|
0.00001
|
NM_001110556.2(FLNA):c.4390C>T (p.Arg1464Cys)
|
rs1557177400
|
0.00001
|
NM_001110556.2(FLNA):c.4400T>G (p.Leu1467Arg)
|
rs2067683829
|
0.00001
|
NM_001110556.2(FLNA):c.4474+3G>T
|
rs1286863443
|
0.00001
|
NM_001110556.2(FLNA):c.4755G>A (p.Thr1585=)
|
rs371787377
|
0.00001
|
NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met)
|
rs782314291
|
0.00001
|
NM_001110556.2(FLNA):c.4904G>A (p.Arg1635His)
|
rs1569551558
|
0.00001
|
NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val)
|
rs1382817700
|
0.00001
|
NM_001110556.2(FLNA):c.5063T>G (p.Val1688Gly)
|
rs1461148946
|
0.00001
|
NM_001110556.2(FLNA):c.5173C>T (p.Arg1725Cys)
|
rs1195468267
|
0.00001
|
NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro)
|
rs1363194253
|
0.00001
|
NM_001110556.2(FLNA):c.5714C>T (p.Pro1905Leu)
|
rs781794030
|
0.00001
|
NM_001110556.2(FLNA):c.6067G>C (p.Val2023Leu)
|
rs781998679
|
0.00001
|
NM_001110556.2(FLNA):c.6145C>T (p.Arg2049Cys)
|
rs782740450
|
0.00001
|
NM_001110556.2(FLNA):c.6335G>A (p.Gly2112Asp)
|
rs2067630528
|
0.00001
|
NM_001110556.2(FLNA):c.6385C>T (p.Pro2129Ser)
|
rs1277448008
|
0.00001
|
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys)
|
rs1405780478
|
0.00001
|
NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser)
|
rs1276647740
|
0.00001
|
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu)
|
rs782310851
|
0.00001
|
NM_001110556.2(FLNA):c.7150G>A (p.Asp2384Asn)
|
rs782754461
|
0.00001
|
NM_001110556.2(FLNA):c.7183C>T (p.Arg2395Trp)
|
rs368038166
|
0.00001
|
NM_001110556.2(FLNA):c.720+4C>T
|
rs1557179583
|
0.00001
|
NM_001110556.2(FLNA):c.720+5A>T
|
rs1569551860
|
0.00001
|
NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu)
|
rs1460574102
|
0.00001
|
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser)
|
rs782383611
|
0.00001
|
NM_001110556.2(FLNA):c.7634C>T (p.Pro2545Leu)
|
rs1377674951
|
0.00001
|
NM_001110556.2(FLNA):c.7637A>G (p.Gln2546Arg)
|
rs1057520770
|
0.00001
|
NM_001110556.2(FLNA):c.7798C>A (p.Pro2600Thr)
|
rs377322094
|
0.00001
|
NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly)
|
rs929704371
|
0.00001
|
NM_001110556.2(FLNA):c.7A>G (p.Ser3Gly)
|
rs1430045418
|
0.00001
|
NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr)
|
rs755904886
|
0.00001
|
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser)
|
rs1318908420
|
0.00001
|
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe)
|
rs763059359
|
0.00001
|
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser)
|
rs1413596219
|
0.00001
|
NM_001184880.2(PCDH19):c.1177C>T (p.Pro393Ser)
|
rs775774922
|
0.00001
|
NM_001184880.2(PCDH19):c.1272G>A (p.Gln424=)
|
rs1602636492
|
0.00001
|
NM_001184880.2(PCDH19):c.1382T>C (p.Ile461Thr)
|
rs778219829
|
0.00001
|
NM_001184880.2(PCDH19):c.1417C>T (p.Leu473Phe)
|
rs751977016
|
0.00001
|
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met)
|
rs773087045
|
0.00001
|
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr)
|
rs778072039
|
0.00001
|
NM_001184880.2(PCDH19):c.1722G>C (p.Glu574Asp)
|
rs767824461
|
0.00001
|
NM_001184880.2(PCDH19):c.1740C>G (p.Asn580Lys)
|
rs763798306
|
0.00001
|
NM_001184880.2(PCDH19):c.1745G>C (p.Gly582Ala)
|
rs1029866851
|
0.00001
|
NM_001184880.2(PCDH19):c.1831G>C (p.Asp611His)
|
rs1361535008
|
0.00001
|
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser)
|
rs1928354837
|
0.00001
|
NM_001184880.2(PCDH19):c.2014A>G (p.Met672Val)
|
rs749714492
|
0.00001
|
NM_001184880.2(PCDH19):c.2203A>G (p.Lys735Glu)
|
rs1382149285
|
0.00001
|
NM_001184880.2(PCDH19):c.2252A>G (p.Lys751Arg)
|
rs1159118052
|
0.00001
|
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)
|
rs376390125
|
0.00001
|
NM_001184880.2(PCDH19):c.2381A>C (p.Glu794Ala)
|
rs1226080727
|
0.00001
|
NM_001184880.2(PCDH19):c.2391C>G (p.Asp797Glu)
|
rs1304917337
|
0.00001
|
NM_001184880.2(PCDH19):c.2401G>A (p.Val801Ile)
|
rs973886559
|
0.00001
|
NM_001184880.2(PCDH19):c.2422A>T (p.Thr808Ser)
|
rs111960928
|
0.00001
|
NM_001184880.2(PCDH19):c.2477G>A (p.Arg826His)
|
rs1490663128
|
0.00001
|
NM_001184880.2(PCDH19):c.2479C>G (p.Arg827Gly)
|
rs773732791
|
0.00001
|
NM_001184880.2(PCDH19):c.2509A>G (p.Asn837Asp)
|
rs1284670769
|
0.00001
|
NM_001184880.2(PCDH19):c.2512C>G (p.Gln838Glu)
|
rs199634316
|
0.00001
|
NM_001184880.2(PCDH19):c.2521C>T (p.Arg841Cys)
|
rs1928219474
|
0.00001
|
NM_001184880.2(PCDH19):c.2549A>G (p.His850Arg)
|
rs1329841061
|
0.00001
|
NM_001184880.2(PCDH19):c.2572C>T (p.Pro858Ser)
|
rs1425103514
|
0.00001
|
NM_001184880.2(PCDH19):c.2616+3G>A
|
rs1276499316
|
0.00001
|
NM_001184880.2(PCDH19):c.2643C>G (p.Asn881Lys)
|
rs1285138683
|
0.00001
|
NM_001184880.2(PCDH19):c.2647G>A (p.Val883Met)
|
rs746945279
|
0.00001
|
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln)
|
rs757949591
|
0.00001
|
NM_001184880.2(PCDH19):c.2668A>G (p.Ile890Val)
|
rs778668005
|
0.00001
|
NM_001184880.2(PCDH19):c.2672A>G (p.Lys891Arg)
|
rs1602600451
|
0.00001
|
NM_001184880.2(PCDH19):c.2676-10T>G
|
rs1469998949
|
0.00001
|
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp)
|
rs752763816
|
0.00001
|
NM_001184880.2(PCDH19):c.2786C>T (p.Thr929Ile)
|
rs370150093
|
0.00001
|
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile)
|
rs772106217
|
0.00001
|
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu)
|
rs371594080
|
0.00001
|
NM_001184880.2(PCDH19):c.2855A>G (p.Asn952Ser)
|
rs983140182
|
0.00001
|
NM_001184880.2(PCDH19):c.292A>C (p.Lys98Gln)
|
rs372702479
|
0.00001
|
NM_001184880.2(PCDH19):c.298A>T (p.Ile100Phe)
|
rs796052838
|
0.00001
|
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro)
|
rs1387075416
|
0.00001
|
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr)
|
rs201509171
|
0.00001
|
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile)
|
rs796052793
|
0.00001
|
NM_001184880.2(PCDH19):c.3151G>A (p.Val1051Ile)
|
rs1452527533
|
0.00001
|
NM_001184880.2(PCDH19):c.3158G>A (p.Arg1053Gln)
|
rs1241637351
|
0.00001
|
NM_001184880.2(PCDH19):c.3191C>T (p.Pro1064Leu)
|
rs1285095488
|
0.00001
|
NM_001184880.2(PCDH19):c.3226C>T (p.Pro1076Ser)
|
rs764781288
|
0.00001
|
NM_001184880.2(PCDH19):c.3241G>A (p.Val1081Met)
|
rs774791898
|
0.00001
|
NM_001184880.2(PCDH19):c.3265C>A (p.Pro1089Thr)
|
rs769890364
|
0.00001
|
NM_001184880.2(PCDH19):c.3341G>A (p.Arg1114His)
|
rs770137596
|
0.00001
|
NM_001184880.2(PCDH19):c.3352A>G (p.Ser1118Gly)
|
rs1057520343
|
0.00001
|
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser)
|
rs1388666203
|
0.00001
|
NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His)
|
rs771849535
|
0.00001
|
NM_001184880.2(PCDH19):c.505A>T (p.Thr169Ser)
|
rs1413443418
|
0.00001
|
NM_001184880.2(PCDH19):c.544G>C (p.Gly182Arg)
|
rs777840773
|
0.00001
|
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val)
|
rs764980282
|
0.00001
|
NM_001184880.2(PCDH19):c.652C>G (p.Arg218Gly)
|
rs1339944196
|
0.00001
|
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile)
|
rs587784298
|
0.00001
|
NM_001184880.2(PCDH19):c.718G>C (p.Glu240Gln)
|
rs796052808
|
0.00001
|
NM_001184880.2(PCDH19):c.722C>A (p.Ser241Tyr)
|
rs1004810913
|
0.00001
|
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser)
|
rs772171727
|
0.00001
|
NM_001353921.2(ARHGEF9):c.1022G>A (p.Arg341His)
|
rs1556347347
|
0.00001
|
NM_001353921.2(ARHGEF9):c.1036G>A (p.Val346Ile)
|
rs1556347281
|
0.00001
|
NM_001353921.2(ARHGEF9):c.1078-3T>C
|
rs1409374479
|
0.00001
|
NM_001353921.2(ARHGEF9):c.1088G>A (p.Arg363Gln)
|
rs1556335112
|
0.00001
|
NM_001353921.2(ARHGEF9):c.1409C>T (p.Ser470Leu)
|
rs782206262
|
0.00001
|
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser)
|
rs1365914320
|
0.00001
|
NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr)
|
rs1556301016
|
0.00001
|
NM_001353921.2(ARHGEF9):c.248C>T (p.Pro83Leu)
|
rs1556402117
|
0.00001
|
NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp)
|
rs1556401755
|
0.00001
|
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp)
|
rs782001294
|
0.00001
|
NM_001353921.2(ARHGEF9):c.425A>G (p.Lys142Arg)
|
rs782145415
|
0.00001
|
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly)
|
rs1394345886
|
0.00001
|
NM_001353921.2(ARHGEF9):c.451C>A (p.Gln151Lys)
|
rs781955551
|
0.00001
|
NM_001353921.2(ARHGEF9):c.52G>A (p.Val18Ile)
|
rs1556415925
|
0.00001
|
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys)
|
rs782139620
|
0.00001
|
NM_001353921.2(ARHGEF9):c.668G>A (p.Arg223His)
|
rs1556365349
|
0.00001
|
NM_001353921.2(ARHGEF9):c.727G>A (p.Asp243Asn)
|
rs782266558
|
0.00001
|
NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr)
|
rs1569491711
|
0.00001
|
NM_001353921.2(ARHGEF9):c.92A>G (p.Asn31Ser)
|
rs1431530716
|
0.00001
|
NM_001353921.2(ARHGEF9):c.95G>A (p.Arg32Gln)
|
rs782244025
|
0.00001
|
NM_004586.3(RPS6KA3):c.1960-3C>T
|
rs1207197365
|
0.00001
|
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser)
|
rs1602295395
|
0.00001
|
NM_005120.3(MED12):c.1253G>A (p.Arg418His)
|
rs1431487428
|
0.00001
|
NM_005120.3(MED12):c.1298A>G (p.Gln433Arg)
|
rs1170167377
|
0.00001
|
NM_005120.3(MED12):c.1746G>A (p.Thr582=)
|
rs773240125
|
0.00001
|
NM_005120.3(MED12):c.1814G>A (p.Arg605Gln)
|
rs1275427306
|
0.00001
|
NM_005120.3(MED12):c.2129T>C (p.Val710Ala)
|
rs1187273369
|
0.00001
|
NM_005120.3(MED12):c.2137C>T (p.Pro713Ser)
|
rs772484830
|
0.00001
|
NM_005120.3(MED12):c.2305C>A (p.His769Asn)
|
rs755014778
|
0.00001
|
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)
|
rs778325168
|
0.00001
|
NM_005120.3(MED12):c.2341G>A (p.Val781Ile)
|
rs2092300526
|
0.00001
|
NM_005120.3(MED12):c.2351G>A (p.Arg784His)
|
rs777238737
|
0.00001
|
NM_005120.3(MED12):c.3070G>A (p.Asp1024Asn)
|
rs1469572055
|
0.00001
|
NM_005120.3(MED12):c.3409G>A (p.Ala1137Thr)
|
rs1317457286
|
0.00001
|
NM_005120.3(MED12):c.3658G>A (p.Val1220Met)
|
rs1236099919
|
0.00001
|
NM_005120.3(MED12):c.3692-7A>G
|
rs1014804538
|
0.00001
|
NM_005120.3(MED12):c.3759G>T (p.Glu1253Asp)
|
rs1350628654
|
0.00001
|
NM_005120.3(MED12):c.4016C>T (p.Pro1339Leu)
|
rs757845624
|
0.00001
|
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)
|
rs777250096
|
0.00001
|
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val)
|
rs771349148
|
0.00001
|
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)
|
rs1366165823
|
0.00001
|
NM_005120.3(MED12):c.4617+3G>A
|
rs748647968
|
0.00001
|
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu)
|
rs151316557
|
0.00001
|
NM_005120.3(MED12):c.5087C>T (p.Pro1696Leu)
|
rs1211195670
|
0.00001
|
NM_005120.3(MED12):c.5134C>T (p.Arg1712Trp)
|
rs763233945
|
0.00001
|
NM_005120.3(MED12):c.5210A>G (p.Tyr1737Cys)
|
rs2092332758
|
0.00001
|
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser)
|
rs1415832392
|
0.00001
|
NM_005120.3(MED12):c.5952T>C (p.Leu1984=)
|
rs2092336597
|
0.00001
|
NM_005120.3(MED12):c.5993A>G (p.Tyr1998Cys)
|
rs1324299187
|
0.00001
|
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser)
|
rs769232520
|
0.00001
|
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)
|
rs2092288110
|
0.00001
|
NM_005120.3(MED12):c.6186G>C (p.Gln2062His)
|
rs1362044936
|
0.00001
|
NM_005120.3(MED12):c.6416G>A (p.Arg2139His)
|
rs1262235402
|
0.00001
|
NM_005120.3(MED12):c.671A>G (p.His224Arg)
|
rs1459490134
|
0.00001
|
NM_005120.3(MED12):c.707C>T (p.Thr236Ile)
|
rs1278481602
|
0.00001
|
NM_005120.3(MED12):c.76C>G (p.Pro26Ala)
|
rs776154055
|
0.00001
|
NM_005120.3(MED12):c.817C>T (p.Leu273Phe)
|
rs1219519252
|
0.00001
|
NM_005765.3(ATP6AP2):c.106C>T (p.Pro36Ser)
|
rs202105468
|
0.00001
|
NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu)
|
rs767128351
|
0.00001
|
NM_005765.3(ATP6AP2):c.226G>A (p.Val76Ile)
|
rs966044221
|
0.00001
|
NM_005765.3(ATP6AP2):c.454C>T (p.Arg152Cys)
|
rs745734335
|
0.00001
|
NM_005765.3(ATP6AP2):c.496A>T (p.Ser166Cys)
|
rs760027081
|
0.00001
|
NM_005765.3(ATP6AP2):c.530A>G (p.Asn177Ser)
|
rs377762605
|
0.00001
|
NM_005765.3(ATP6AP2):c.589-3A>G
|
rs370220088
|
0.00001
|
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His)
|
rs751433380
|
0.00001
|
NM_005765.3(ATP6AP2):c.615G>C (p.Lys205Asn)
|
rs1242256343
|
0.00001
|
NM_005765.3(ATP6AP2):c.673C>T (p.Arg225Cys)
|
rs1158279990
|
0.00001
|
NM_005765.3(ATP6AP2):c.692A>T (p.Glu231Val)
|
rs776952090
|
0.00001
|
NM_006950.3(SYN1):c.1076C>A (p.Thr359Lys)
|
rs765183335
|
0.00001
|
NM_006950.3(SYN1):c.1183A>G (p.Ile395Val)
|
rs185229386
|
0.00001
|
NM_006950.3(SYN1):c.1198G>A (p.Asp400Asn)
|
rs772668988
|
0.00001
|
NM_006950.3(SYN1):c.1310C>T (p.Pro437Leu)
|
rs895517774
|
0.00001
|
NM_006950.3(SYN1):c.1363C>A (p.Pro455Thr)
|
rs1371497364
|
0.00001
|
NM_006950.3(SYN1):c.1519C>A (p.Arg507Ser)
|
rs2057770942
|
0.00001
|
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro)
|
rs1165799072
|
0.00001
|
NM_006950.3(SYN1):c.1713C>T (p.Gly571=)
|
rs1243624256
|
0.00001
|
NM_006950.3(SYN1):c.1820C>T (p.Ala607Val)
|
rs1339706473
|
0.00001
|
NM_006950.3(SYN1):c.184T>G (p.Ser62Ala)
|
rs1294224206
|
0.00001
|
NM_006950.3(SYN1):c.1943C>T (p.Ala648Val)
|
rs796053397
|
0.00001
|
NM_006950.3(SYN1):c.1967C>T (p.Pro656Leu)
|
rs1391622247
|
0.00001
|
NM_006950.3(SYN1):c.218G>C (p.Gly73Ala)
|
rs1183767661
|
0.00001
|
NM_006950.3(SYN1):c.316G>T (p.Ala106Ser)
|
rs794726957
|
0.00001
|
NM_006950.3(SYN1):c.338C>T (p.Ser113Phe)
|
rs1488258803
|
0.00001
|
NM_006950.3(SYN1):c.557G>A (p.Arg186His)
|
rs1171134481
|
0.00001
|
NM_006950.3(SYN1):c.586G>A (p.Gly196Arg)
|
rs1207640513
|
0.00001
|
NM_006950.3(SYN1):c.722C>T (p.Thr241Ile)
|
rs796053399
|
0.00001
|
NM_006950.3(SYN1):c.883G>A (p.Val295Met)
|
rs1085307749
|
0.00001
|
NM_006950.3(SYN1):c.959G>C (p.Gly320Ala)
|
rs1356850744
|
0.00001
|
NM_016032.4(ZDHHC9):c.1013C>T (p.Pro338Leu)
|
rs753807510
|
0.00001
|
NM_016032.4(ZDHHC9):c.1025G>A (p.Ser342Asn)
|
rs1242322529
|
0.00001
|
NM_016032.4(ZDHHC9):c.1045C>T (p.Pro349Ser)
|
rs755700206
|
0.00001
|
NM_016032.4(ZDHHC9):c.1054C>A (p.Pro352Thr)
|
rs745341099
|
0.00001
|
NM_016032.4(ZDHHC9):c.20G>C (p.Arg7Thr)
|
rs1488428088
|
0.00001
|
NM_016032.4(ZDHHC9):c.329-2dup
|
rs763845850
|
0.00001
|
NM_016032.4(ZDHHC9):c.362G>A (p.Arg121Gln)
|
rs1159950184
|
0.00001
|
NM_016032.4(ZDHHC9):c.778A>G (p.Ile260Val)
|
rs1927640133
|
0.00001
|
NM_016032.4(ZDHHC9):c.989A>G (p.Glu330Gly)
|
rs1370221742
|
0.00001
|
NM_016032.4(ZDHHC9):c.98G>A (p.Arg33Gln)
|
rs767597857
|
0.00001
|
NM_031206.7(LAS1L):c.1871G>A (p.Arg624Lys)
|
rs370120927
|
0.00001
|
NM_031206.7(LAS1L):c.674A>G (p.Gln225Arg)
|
rs758854025
|
0.00001
|
NM_031206.7(LAS1L):c.948C>T (p.Cys316=)
|
rs1410871672
|
0.00001
|
NM_080632.3(UPF3B):c.1087A>G (p.Arg363Gly)
|
rs1402767794
|
0.00001
|
NM_080632.3(UPF3B):c.1189A>G (p.Lys397Glu)
|
rs898086981
|
0.00001
|
NM_080632.3(UPF3B):c.1302+6G>A
|
rs752421745
|
0.00001
|
NM_080632.3(UPF3B):c.52A>C (p.Thr18Pro)
|
rs748622995
|
0.00001
|
NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys)
|
rs376175156
|
0.00001
|
NC_000023.10:g.(?_118708675)_(119761021_?)dup
|
|
|
NC_000023.10:g.(?_118968821)_(118986911_?)dup
|
|
|
NC_000023.10:g.(?_128674397)_(128975941_?)dup
|
|
|
NC_000023.10:g.(?_152986307)_(153593345_?)dup
|
|
|
NC_000023.10:g.(?_153128118)_(153664237_?)dup
|
|
|
NC_000023.10:g.(?_153195397)_(153583460_?)dup
|
|
|
NC_000023.10:g.(?_153577197)_(153579429_?)dup
|
|
|
NC_000023.10:g.(?_153577197)_(153599633_?)dup
|
|
|
NC_000023.10:g.(?_153577197)_(153609577_?)dup
|
|
|
NC_000023.10:g.(?_153577207)_(153599623_?)dup
|
|
|
NC_000023.10:g.(?_153577207)_(153609567_?)dup
|
|
|
NC_000023.10:g.(?_153577207)_(153642537_?)dup
|
|
|
NC_000023.10:g.(?_153577207)_(153650075_?)dup
|
|
|
NC_000023.10:g.(?_153579929)_(153649363_?)dup
|
|
|
NC_000023.10:g.(?_153585782)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_153586547)_(153609557_?)dup
|
|
|
NC_000023.10:g.(?_17393881)_(20284750_?)dup
|
|
|
NC_000023.10:g.(?_20173516)_(20195222_?)dup
|
|
|
NC_000023.10:g.(?_20173516)_(20252952_?)dup
|
|
|
NC_000023.10:g.(?_39911342)_(41782261_?)dup
|
|
|
NC_000023.10:g.(?_39911362)_(41782241_?)del
|
|
|
NC_000023.10:g.(?_40464793)_(40465007_?)dup
|
|
|
NC_000023.10:g.(?_46696536)_(47436910_?)dup
|
|
|
NC_000023.10:g.(?_47001716)_(50659607_?)dup
|
|
|
NC_000023.10:g.(?_47432243)_(47479147_?)dup
|
|
|
NC_000023.10:g.(?_47464357)_(47479147_?)dup
|
|
|
NC_000023.10:g.(?_62857908)_(64196257_?)dup
|
|
|
NC_000023.10:g.(?_62893898)_(63005025_?)dup
|
|
|
NC_000023.10:g.(?_69748945)_(70644108_?)dup
|
|
|
NC_000023.10:g.(?_70338585)_(70362088_?)del
|
|
|
NC_000023.10:g.(?_70338585)_(70362088_?)dup
|
|
|
NC_000023.10:g.(?_70348944)_(70350084_?)dup
|
|
|
NC_000023.10:g.(?_70348958)_(70350070_?)dup
|
|
|
NC_000023.10:g.(?_70348964)_(70350064_?)dup
|
|
|
NC_000023.10:g.(?_76759357)_(77042755_?)dup
|
|
|
NC_000023.10:g.(?_76763809)_(76972740_?)dup
|
|
|
NC_000023.10:g.(?_76763809)_(77041507_?)dup
|
|
|
NC_000023.10:g.(?_76763829)_(76972740_?)dup
|
|
|
NC_000023.10:g.(?_76829695)_(77041507_?)dup
|
|
|
NC_000023.10:g.(?_76888675)_(77264780_?)dup
|
|
|
NC_000023.10:g.(?_77041448)_(77041487_?)dup
|
|
|
NC_000023.10:g.(?_77041448)_(77041507_?)dup
|
|
|
NC_000023.10:g.(?_99551255)_(99926004_?)dup
|
|
|
NC_000023.10:g.(?_99551275)_(101097764_?)dup
|
|
|
NC_000023.11:g.(?_100296257)_(100408617_?)dup
|
|
|
NC_000023.11:g.(?_20155378)_(20176518_?)dup
|
|
|
NC_000023.11:g.(?_40581046)_(40605775_?)dup
|
|
|
NC_000023.11:g.(?_47572844)_(47605399_?)del
|
|
|
NC_000023.11:g.(?_71118745)_(71142228_?)dup
|
|
|
NC_000023.11:g.(?_71118745)_(71224569_?)dup
|
|
|
NC_000023.11:g.154350197_154350208del
|
|
|
NC_000023.11:g.71124975GTT[1]
|
|
|
NC_000023.11:g.71141229GCA[3]
|
|
|
NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3]
|
rs773480549
|
|
NM_000489.6(ATRX):c.1024T>C (p.Ser342Pro)
|
|
|
NM_000489.6(ATRX):c.102TCC[1] (p.Pro36del)
|
|
|
NM_000489.6(ATRX):c.1039A>G (p.Ile347Val)
|
rs2071426013
|
|
NM_000489.6(ATRX):c.1043T>C (p.Val348Ala)
|
rs975407914
|
|
NM_000489.6(ATRX):c.1057A>G (p.Ile353Val)
|
rs2071424254
|
|
NM_000489.6(ATRX):c.1075C>G (p.Leu359Val)
|
rs2071423786
|
|
NM_000489.6(ATRX):c.1091C>G (p.Ala364Gly)
|
|
|
NM_000489.6(ATRX):c.1096A>G (p.Met366Val)
|
|
|
NM_000489.6(ATRX):c.110G>T (p.Arg37Leu)
|
|
|
NM_000489.6(ATRX):c.1115A>C (p.Lys372Thr)
|
|
|
NM_000489.6(ATRX):c.1147A>G (p.Ile383Val)
|
rs2148629471
|
|
NM_000489.6(ATRX):c.1151G>C (p.Ser384Thr)
|
rs2071417426
|
|
NM_000489.6(ATRX):c.1159A>G (p.Thr387Ala)
|
rs1603225916
|
|
NM_000489.6(ATRX):c.1169G>C (p.Arg390Pro)
|
rs367986587
|
|
NM_000489.6(ATRX):c.1169G>T (p.Arg390Leu)
|
|
|
NM_000489.6(ATRX):c.116C>T (p.Ala39Val)
|
|
|
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln)
|
rs2071415045
|
|
NM_000489.6(ATRX):c.1216C>T (p.His406Tyr)
|
rs2148627971
|
|
NM_000489.6(ATRX):c.1233A>T (p.Glu411Asp)
|
|
|
NM_000489.6(ATRX):c.1235A>G (p.Asp412Gly)
|
|
|
NM_000489.6(ATRX):c.1247A>C (p.Glu416Ala)
|
|
|
NM_000489.6(ATRX):c.1252C>G (p.Arg418Gly)
|
rs1057523785
|
|
NM_000489.6(ATRX):c.1264G>A (p.Ala422Thr)
|
rs1424850007
|
|
NM_000489.6(ATRX):c.1290A>T (p.Lys430Asn)
|
|
|
NM_000489.6(ATRX):c.1310C>G (p.Ala437Gly)
|
|
|
NM_000489.6(ATRX):c.1322_1324del (p.Thr441del)
|
rs1569539303
|
|
NM_000489.6(ATRX):c.1340A>T (p.Glu447Val)
|
rs2071404188
|
|
NM_000489.6(ATRX):c.1357G>A (p.Glu453Lys)
|
|
|
NM_000489.6(ATRX):c.1358A>G (p.Glu453Gly)
|
|
|
NM_000489.6(ATRX):c.140T>C (p.Ile47Thr)
|
|
|
NM_000489.6(ATRX):c.1415A>G (p.Glu472Gly)
|
|
|
NM_000489.6(ATRX):c.1432G>A (p.Val478Ile)
|
|
|
NM_000489.6(ATRX):c.1435C>G (p.Pro479Ala)
|
|
|
NM_000489.6(ATRX):c.1456A>G (p.Asn486Asp)
|
|
|
NM_000489.6(ATRX):c.1469G>T (p.Gly490Val)
|
|
|
NM_000489.6(ATRX):c.1483A>C (p.Lys495Gln)
|
|
|
NM_000489.6(ATRX):c.1493G>A (p.Arg498Lys)
|
rs2071391273
|
|
NM_000489.6(ATRX):c.1495A>G (p.Lys499Glu)
|
|
|
NM_000489.6(ATRX):c.1509A>T (p.Gln503His)
|
rs1039587651
|
|
NM_000489.6(ATRX):c.1514A>G (p.Glu505Gly)
|
|
|
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser)
|
rs1449091873
|
|
NM_000489.6(ATRX):c.1522A>C (p.Asn508His)
|
rs398123421
|
|
NM_000489.6(ATRX):c.1525A>C (p.Thr509Pro)
|
|
|
NM_000489.6(ATRX):c.1556C>G (p.Ser519Cys)
|
|
|
NM_000489.6(ATRX):c.1574C>G (p.Pro525Arg)
|
|
|
NM_000489.6(ATRX):c.1598A>T (p.Glu533Val)
|
|
|
NM_000489.6(ATRX):c.160T>A (p.Ser54Thr)
|
rs2072320573
|
|
NM_000489.6(ATRX):c.1610A>G (p.Glu537Gly)
|
|
|
NM_000489.6(ATRX):c.1674T>A (p.Ser558Arg)
|
rs1569539199
|
|
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu)
|
rs1060499760
|
|
NM_000489.6(ATRX):c.1678T>C (p.Ser560Pro)
|
|
|
NM_000489.6(ATRX):c.167T>A (p.Met56Lys)
|
rs782553856
|
|
NM_000489.6(ATRX):c.1694T>G (p.Ile565Ser)
|
rs1557140924
|
|
NM_000489.6(ATRX):c.1702A>G (p.Lys568Glu)
|
|
|
NM_000489.6(ATRX):c.1722T>G (p.Ile574Met)
|
rs2071372568
|
|
NM_000489.6(ATRX):c.1744G>T (p.Val582Leu)
|
|
|
NM_000489.6(ATRX):c.1760A>G (p.Tyr587Cys)
|
|
|
NM_000489.6(ATRX):c.1772C>G (p.Thr591Ser)
|
|
|
NM_000489.6(ATRX):c.1772C>T (p.Thr591Ile)
|
|
|
NM_000489.6(ATRX):c.1781C>G (p.Ser594Cys)
|
rs782774889
|
|
NM_000489.6(ATRX):c.182A>G (p.Lys61Arg)
|
|
|
NM_000489.6(ATRX):c.1846A>G (p.Lys616Glu)
|
rs2071363928
|
|
NM_000489.6(ATRX):c.1865C>G (p.Pro622Arg)
|
|
|
NM_000489.6(ATRX):c.189+5G>A
|
rs2072317981
|
|
NM_000489.6(ATRX):c.1904_1918del (p.Asp635_Leu639del)
|
rs2071359110
|
|
NM_000489.6(ATRX):c.1910A>G (p.Glu637Gly)
|
rs2071360128
|
|
NM_000489.6(ATRX):c.194C>A (p.Thr65Asn)
|
|
|
NM_000489.6(ATRX):c.195_196insGTG (p.Thr65_Ser66insVal)
|
|
|
NM_000489.6(ATRX):c.1973G>A (p.Arg658His)
|
rs2148610304
|
|
NM_000489.6(ATRX):c.1975G>A (p.Val659Ile)
|
rs2148610218
|
|
NM_000489.6(ATRX):c.1999C>T (p.Pro667Ser)
|
|
|
NM_000489.6(ATRX):c.1A>G (p.Met1Val)
|
rs2076735328
|
|
NM_000489.6(ATRX):c.2002A>C (p.Thr668Pro)
|
|
|
NM_000489.6(ATRX):c.2005G>C (p.Glu669Gln)
|
|
|
NM_000489.6(ATRX):c.2032G>A (p.Asp678Asn)
|
|
|
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp)
|
rs1557140316
|
|
NM_000489.6(ATRX):c.212C>T (p.Ser71Phe)
|
|
|
NM_000489.6(ATRX):c.2136G>C (p.Lys712Asn)
|
rs2071344638
|
|
NM_000489.6(ATRX):c.215A>T (p.Lys72Met)
|
|
|
NM_000489.6(ATRX):c.2169G>T (p.Glu723Asp)
|
|
|
NM_000489.6(ATRX):c.2173G>C (p.Val725Leu)
|
rs2071341824
|
|
NM_000489.6(ATRX):c.2191T>C (p.Ser731Pro)
|
rs2071340254
|
|
NM_000489.6(ATRX):c.2200A>G (p.Met734Val)
|
rs2071339556
|
|
NM_000489.6(ATRX):c.2202G>T (p.Met734Ile)
|
|
|
NM_000489.6(ATRX):c.2206G>A (p.Ala736Thr)
|
|
|
NM_000489.6(ATRX):c.2218G>C (p.Glu740Gln)
|
rs782341193
|
|
NM_000489.6(ATRX):c.2241TTC[2] (p.Ser750del)
|
rs1297294136
|
|
NM_000489.6(ATRX):c.2243C>G (p.Ser748Cys)
|
|
|
NM_000489.6(ATRX):c.2257G>A (p.Asp753Asn)
|
|
|
NM_000489.6(ATRX):c.2262T>G (p.Ile754Met)
|
rs1557140015
|
|
NM_000489.6(ATRX):c.2263A>G (p.Asn755Asp)
|
|
|
NM_000489.6(ATRX):c.2265T>G (p.Asn755Lys)
|
|
|
NM_000489.6(ATRX):c.2279A>C (p.Asn760Thr)
|
|
|
NM_000489.6(ATRX):c.2280C>A (p.Asn760Lys)
|
rs2148602163
|
|
NM_000489.6(ATRX):c.2286G>C (p.Lys762Asn)
|
|
|
NM_000489.6(ATRX):c.2293T>C (p.Tyr765His)
|
rs2071326352
|
|
NM_000489.6(ATRX):c.2304G>C (p.Lys768Asn)
|
rs1557139920
|
|
NM_000489.6(ATRX):c.2320G>C (p.Asp774His)
|
rs1557139871
|
|
NM_000489.6(ATRX):c.2323G>C (p.Asp775His)
|
rs2071322741
|
|
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln)
|
rs1603220762
|
|
NM_000489.6(ATRX):c.2345A>T (p.Lys782Ile)
|
rs781957333
|
|
NM_000489.6(ATRX):c.2379A>T (p.Lys793Asn)
|
|
|
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn)
|
rs1603220590
|
|
NM_000489.6(ATRX):c.2401T>C (p.Ser801Pro)
|
|
|
NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del)
|
rs781862926
|
|
NM_000489.6(ATRX):c.2470G>C (p.Glu824Gln)
|
rs2071304603
|
|
NM_000489.6(ATRX):c.2492T>C (p.Ile831Thr)
|
rs1603220048
|
|
NM_000489.6(ATRX):c.24A>C (p.Glu8Asp)
|
rs2148752831
|
|
NM_000489.6(ATRX):c.2507C>A (p.Thr836Asn)
|
rs1603219919
|
|
NM_000489.6(ATRX):c.2515A>G (p.Lys839Glu)
|
|
|
NM_000489.6(ATRX):c.2520A>C (p.Arg840Ser)
|
|
|
NM_000489.6(ATRX):c.2536G>C (p.Asp846His)
|
|
|
NM_000489.6(ATRX):c.2542G>C (p.Asp848His)
|
|
|
NM_000489.6(ATRX):c.2549C>T (p.Ser850Phe)
|
|
|
NM_000489.6(ATRX):c.2555A>G (p.Asp852Gly)
|
|
|
NM_000489.6(ATRX):c.2566A>G (p.Ser856Gly)
|
|
|
NM_000489.6(ATRX):c.2585A>C (p.Asn862Thr)
|
|
|
NM_000489.6(ATRX):c.2591G>T (p.Gly864Val)
|
rs2148593605
|
|
NM_000489.6(ATRX):c.2604G>C (p.Leu868Phe)
|
rs781808505
|
|
NM_000489.6(ATRX):c.2627C>G (p.Ser876Cys)
|
|
|
NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly)
|
rs2071285505
|
|
NM_000489.6(ATRX):c.2642G>A (p.Arg881Lys)
|
|
|
NM_000489.6(ATRX):c.2647C>A (p.Gln883Lys)
|
rs868926015
|
|
NM_000489.6(ATRX):c.2657A>G (p.Glu886Gly)
|
rs2071282891
|
|
NM_000489.6(ATRX):c.2674G>A (p.Glu892Lys)
|
rs1603218994
|
|
NM_000489.6(ATRX):c.2681C>T (p.Thr894Ile)
|
rs2148591370
|
|
NM_000489.6(ATRX):c.2686G>C (p.Asp896His)
|
rs2071279824
|
|
NM_000489.6(ATRX):c.2696C>A (p.Thr899Lys)
|
rs782757975
|
|
NM_000489.6(ATRX):c.2716G>A (p.Asp906Asn)
|
|
|
NM_000489.6(ATRX):c.2726C>T (p.Pro909Leu)
|
|
|
NM_000489.6(ATRX):c.2731A>C (p.Lys911Gln)
|
|
|
NM_000489.6(ATRX):c.2752A>G (p.Thr918Ala)
|
rs1603218619
|
|
NM_000489.6(ATRX):c.2758G>A (p.Gly920Ser)
|
|
|
NM_000489.6(ATRX):c.2770C>A (p.Leu924Ile)
|
rs1569538903
|
|
NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu)
|
rs2071271385
|
|
NM_000489.6(ATRX):c.2789G>C (p.Ser930Thr)
|
rs727503817
|
|
NM_000489.6(ATRX):c.2803G>A (p.Glu935Lys)
|
|
|
NM_000489.6(ATRX):c.2818G>A (p.Ala940Thr)
|
rs2148588122
|
|
NM_000489.6(ATRX):c.2819C>T (p.Ala940Val)
|
rs2071267970
|
|
NM_000489.6(ATRX):c.2830_2832del (p.Glu944del)
|
rs1338172022
|
|
NM_000489.6(ATRX):c.2838C>G (p.Ser946Arg)
|
rs2071266406
|
|
NM_000489.6(ATRX):c.2864A>C (p.Lys955Thr)
|
|
|
NM_000489.6(ATRX):c.2866_2868del (p.Lys956del)
|
rs782077612
|
|
NM_000489.6(ATRX):c.2870T>C (p.Val957Ala)
|
rs2148587031
|
|
NM_000489.6(ATRX):c.2884T>C (p.Ser962Pro)
|
rs2148586632
|
|
NM_000489.6(ATRX):c.2897A>G (p.Glu966Gly)
|
|
|
NM_000489.6(ATRX):c.2906T>C (p.Leu969Pro)
|
rs2071260958
|
|
NM_000489.6(ATRX):c.2918A>G (p.Gln973Arg)
|
rs2148585851
|
|
NM_000489.6(ATRX):c.2942A>G (p.Asp981Gly)
|
rs2071258052
|
|
NM_000489.6(ATRX):c.2956A>G (p.Lys986Glu)
|
rs2071255335
|
|
NM_000489.6(ATRX):c.2962G>A (p.Gly988Arg)
|
rs2071254827
|
|
NM_000489.6(ATRX):c.2971G>A (p.Glu991Lys)
|
rs782574426
|
|
NM_000489.6(ATRX):c.2972A>G (p.Glu991Gly)
|
|
|
NM_000489.6(ATRX):c.2974A>G (p.Lys992Glu)
|
rs2148584437
|
|
NM_000489.6(ATRX):c.2978A>G (p.Lys993Arg)
|
|
|
NM_000489.6(ATRX):c.2989G>C (p.Asp997His)
|
|
|
NM_000489.6(ATRX):c.3001A>C (p.Lys1001Gln)
|
rs2148583946
|
|
NM_000489.6(ATRX):c.3075T>G (p.Ile1025Met)
|
rs2148582142
|
|
NM_000489.6(ATRX):c.3094A>G (p.Ile1032Val)
|
|
|
NM_000489.6(ATRX):c.3112G>A (p.Gly1038Arg)
|
|
|
NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly)
|
rs1557138081
|
|
NM_000489.6(ATRX):c.3170A>T (p.Lys1057Met)
|
rs2071238285
|
|
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu)
|
rs2071236443
|
|
NM_000489.6(ATRX):c.3205G>A (p.Gly1069Arg)
|
|
|
NM_000489.6(ATRX):c.3209A>C (p.Lys1070Thr)
|
|
|
NM_000489.6(ATRX):c.3214G>C (p.Asp1072His)
|
|
|
NM_000489.6(ATRX):c.3220T>C (p.Cys1074Arg)
|
|
|
NM_000489.6(ATRX):c.3236A>T (p.Asp1079Val)
|
|
|
NM_000489.6(ATRX):c.3266_3274del (p.Arg1089_Lys1091del)
|
|
|
NM_000489.6(ATRX):c.3289C>T (p.Leu1097Phe)
|
|
|
NM_000489.6(ATRX):c.3317A>G (p.Asp1106Gly)
|
|
|
NM_000489.6(ATRX):c.3324ATC[1] (p.Ser1110del)
|
|
|
NM_000489.6(ATRX):c.3336T>A (p.Thr1112=)
|
rs2071225400
|
|
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val)
|
rs1569538741
|
|
NM_000489.6(ATRX):c.3350T>C (p.Met1117Thr)
|
|
|
NM_000489.6(ATRX):c.3357A>C (p.Glu1119Asp)
|
|
|
NM_000489.6(ATRX):c.3364T>A (p.Cys1122Ser)
|
|
|
NM_000489.6(ATRX):c.3383G>C (p.Arg1128Thr)
|
|
|
NM_000489.6(ATRX):c.3409A>G (p.Arg1137Gly)
|
rs2148574004
|
|
NM_000489.6(ATRX):c.3433A>C (p.Asn1145His)
|
rs2148573453
|
|
NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)
|
|
|
NM_000489.6(ATRX):c.3442G>C (p.Glu1148Gln)
|
rs2148573185
|
|
NM_000489.6(ATRX):c.3449A>G (p.Gln1150Arg)
|
rs2148573004
|
|
NM_000489.6(ATRX):c.3467C>T (p.Ser1156Phe)
|
|
|
NM_000489.6(ATRX):c.346A>G (p.Ile116Val)
|
|
|
NM_000489.6(ATRX):c.3480A>T (p.Glu1160Asp)
|
rs2071212651
|
|
NM_000489.6(ATRX):c.3492TAA[1] (p.Asn1165del)
|
|
|
NM_000489.6(ATRX):c.3494A>G (p.Asn1165Ser)
|
|
|
NM_000489.6(ATRX):c.3495_3500del (p.Asn1165_Lys1166del)
|
rs1557137281
|
|
NM_000489.6(ATRX):c.3498_3500del (p.Lys1169del)
|
rs782695846
|
|
NM_000489.6(ATRX):c.3545A>G (p.Lys1182Arg)
|
|
|
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn)
|
rs1490780716
|
|
NM_000489.6(ATRX):c.3563C>T (p.Ser1188Phe)
|
|
|
NM_000489.6(ATRX):c.3572C>T (p.Thr1191Ile)
|
rs2148569833
|
|
NM_000489.6(ATRX):c.3610TCT[2] (p.Ser1206del)
|
rs782162142
|
|
NM_000489.6(ATRX):c.3611C>G (p.Ser1204Cys)
|
|
|
NM_000489.6(ATRX):c.3635A>G (p.Asp1212Gly)
|
|
|
NM_000489.6(ATRX):c.3639G>C (p.Gln1213His)
|
|
|
NM_000489.6(ATRX):c.3641A>G (p.Asn1214Ser)
|
rs144527582
|
|
NM_000489.6(ATRX):c.3642T>G (p.Asn1214Lys)
|
rs2148568110
|
|
NM_000489.6(ATRX):c.370+5T>C
|
rs1557149836
|
|
NM_000489.6(ATRX):c.371-4C>G
|
rs1603240656
|
|
NM_000489.6(ATRX):c.3736+5G>A
|
|
|
NM_000489.6(ATRX):c.3746C>A (p.Ala1249Asp)
|
|
|
NM_000489.6(ATRX):c.3751T>C (p.Ser1251Pro)
|
|
|
NM_000489.6(ATRX):c.3777TGA[5] (p.Asp1264_Asn1265insAsp)
|
|
|
NM_000489.6(ATRX):c.3791A>G (p.Asp1264Gly)
|
rs2148542963
|
|
NM_000489.6(ATRX):c.3856T>A (p.Ser1286Thr)
|
|
|
NM_000489.6(ATRX):c.3950A>C (p.Lys1317Thr)
|
|
|
NM_000489.6(ATRX):c.3955C>G (p.Gln1319Glu)
|
|
|
NM_000489.6(ATRX):c.397G>T (p.Val133Leu)
|
|
|
NM_000489.6(ATRX):c.3994A>C (p.Lys1332Gln)
|
|
|
NM_000489.6(ATRX):c.4018C>T (p.Leu1340Phe)
|
rs2070041722
|
|
NM_000489.6(ATRX):c.4024C>T (p.Arg1342Trp)
|
|
|
NM_000489.6(ATRX):c.4088A>G (p.His1363Arg)
|
|
|
NM_000489.6(ATRX):c.4104C>T (p.Gly1368=)
|
rs782726352
|
|
NM_000489.6(ATRX):c.4119G>A (p.Lys1373=)
|
|
|
NM_000489.6(ATRX):c.411C>A (p.Asp137Glu)
|
|
|
NM_000489.6(ATRX):c.4121-3A>G
|
|
|
NM_000489.6(ATRX):c.4124G>A (p.Ser1375Asn)
|
|
|
NM_000489.6(ATRX):c.4183G>A (p.Glu1395Lys)
|
|
|
NM_000489.6(ATRX):c.4192G>C (p.Asp1398His)
|
|
|
NM_000489.6(ATRX):c.4214+4T>G
|
rs2148460567
|
|
NM_000489.6(ATRX):c.4215G>A (p.Arg1405=)
|
|
|
NM_000489.6(ATRX):c.4216T>G (p.Ser1406Ala)
|
rs2148451827
|
|
NM_000489.6(ATRX):c.4226A>G (p.Lys1409Arg)
|
|
|
NM_000489.6(ATRX):c.4228G>A (p.Ala1410Thr)
|
|
|
NM_000489.6(ATRX):c.4233G>T (p.Glu1411Asp)
|
rs1557118780
|
|
NM_000489.6(ATRX):c.4277G>A (p.Arg1426Gln)
|
rs1557118717
|
|
NM_000489.6(ATRX):c.4279C>T (p.Arg1427Cys)
|
|
|
NM_000489.6(ATRX):c.4312A>G (p.Asn1438Asp)
|
rs971839925
|
|
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del)
|
rs1356648720
|
|
NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del)
|
rs782410402
|
|
NM_000489.6(ATRX):c.4344_4358del (p.Lys1449_Glu1453del)
|
rs1557117436
|
|
NM_000489.6(ATRX):c.4347_4358del (p.Glu1461_Glu1464del)
|
rs1557117424
|
|
NM_000489.6(ATRX):c.4353GGA[4] (p.Glu1464_Asp1465insGlu)
|
|
|
NM_000489.6(ATRX):c.4356GGAGGAAGAGGAGGAGGA[1] (p.Glu1459_Glu1464del)
|
rs782794214
|
|
NM_000489.6(ATRX):c.4362_4364del (p.Glu1464del)
|
|
|
NM_000489.6(ATRX):c.4362_4376dup (p.Glu1460_Glu1464dup)
|
rs2069287154
|
|
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup)
|
rs398123423
|
|
NM_000489.6(ATRX):c.4365_4394del (p.Glu1455_Glu1464del)
|
rs1312591978
|
|
NM_000489.6(ATRX):c.4371GGAGGAGGAAGA[3] (p.Glu1464_Asp1465insGluGluGluGlu)
|
|
|
NM_000489.6(ATRX):c.4386G>T (p.Glu1462Asp)
|
|
|
NM_000489.6(ATRX):c.4392A>C (p.Glu1464Asp)
|
|
|
NM_000489.6(ATRX):c.448A>G (p.Ser150Gly)
|
rs2072040574
|
|
NM_000489.6(ATRX):c.4576G>C (p.Ala1526Pro)
|
|
|
NM_000489.6(ATRX):c.4590G>C (p.Lys1530Asn)
|
rs2148360161
|
|
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1])
|
rs797045406
|
|
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly)
|
rs2068328911
|
|
NM_000489.6(ATRX):c.4661G>A (p.Arg1554Lys)
|
rs2148358518
|
|
NM_000489.6(ATRX):c.4699+3A>G
|
|
|
NM_000489.6(ATRX):c.4744A>G (p.Thr1582Ala)
|
|
|
NM_000489.6(ATRX):c.479G>A (p.Arg160His)
|
rs2072039122
|
|
NM_000489.6(ATRX):c.4838T>C (p.Leu1613Ser)
|
rs2148343760
|
|
NM_000489.6(ATRX):c.4852G>C (p.Asp1618His)
|
|
|
NM_000489.6(ATRX):c.489T>A (p.Asp163Glu)
|
|
|
NM_000489.6(ATRX):c.4929G>C (p.Glu1643Asp)
|
|
|
NM_000489.6(ATRX):c.5065C>G (p.Leu1689Val)
|
|
|
NM_000489.6(ATRX):c.5133A>T (p.Pro1711=)
|
rs2148335082
|
|
NM_000489.6(ATRX):c.5134+6G>C
|
|
|
NM_000489.6(ATRX):c.514A>G (p.Thr172Ala)
|
|
|
NM_000489.6(ATRX):c.5212A>G (p.Ile1738Val)
|
rs1057523890
|
|
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)
|
rs1448764008
|
|
NM_000489.6(ATRX):c.525A>G (p.Gly175=)
|
|
|
NM_000489.6(ATRX):c.5267T>C (p.Ile1756Thr)
|
rs2067530352
|
|
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp)
|
rs141240580
|
|
NM_000489.6(ATRX):c.5407C>T (p.Arg1803Cys)
|
rs2148258208
|
|
NM_000489.6(ATRX):c.5416A>G (p.Ile1806Val)
|
rs2067467967
|
|
NM_000489.6(ATRX):c.546A>T (p.Gln182His)
|
rs375794120
|
|
NM_000489.6(ATRX):c.551A>T (p.Asp184Val)
|
|
|
NM_000489.6(ATRX):c.5536C>T (p.Leu1846Phe)
|
rs1557097008
|
|
NM_000489.6(ATRX):c.5565A>C (p.Thr1855=)
|
|
|
NM_000489.6(ATRX):c.5565A>G (p.Thr1855=)
|
rs1557096967
|
|
NM_000489.6(ATRX):c.5573G>A (p.Gly1858Asp)
|
rs1602739123
|
|
NM_000489.6(ATRX):c.5579A>C (p.Asn1860Thr)
|
|
|
NM_000489.6(ATRX):c.563G>C (p.Arg188Thr)
|
|
|
NM_000489.6(ATRX):c.5659T>G (p.Trp1887Gly)
|
rs2066634036
|
|
NM_000489.6(ATRX):c.5683A>G (p.Ser1895Gly)
|
rs2066633572
|
|
NM_000489.6(ATRX):c.56A>G (p.His19Arg)
|
|
|
NM_000489.6(ATRX):c.5711A>G (p.Glu1904Gly)
|
rs2066607432
|
|
NM_000489.6(ATRX):c.5718T>A (p.Ser1906Arg)
|
|
|
NM_000489.6(ATRX):c.5719A>G (p.Met1907Val)
|
rs2066607060
|
|
NM_000489.6(ATRX):c.5751A>T (p.Glu1917Asp)
|
rs2066606140
|
|
NM_000489.6(ATRX):c.5773G>A (p.Asp1925Asn)
|
|
|
NM_000489.6(ATRX):c.5786+3_5786+4insT
|
|
|
NM_000489.6(ATRX):c.5825G>A (p.Ser1942Asn)
|
rs2148144524
|
|
NM_000489.6(ATRX):c.5888G>A (p.Arg1963Gln)
|
|
|
NM_000489.6(ATRX):c.5905A>C (p.Asn1969His)
|
|
|
NM_000489.6(ATRX):c.5923A>G (p.Asn1975Asp)
|
|
|
NM_000489.6(ATRX):c.5942T>C (p.Leu1981Ser)
|
|
|
NM_000489.6(ATRX):c.5951A>G (p.Glu1984Gly)
|
rs2148140220
|
|
NM_000489.6(ATRX):c.5957G>A (p.Ser1986Asn)
|
rs2066370578
|
|
NM_000489.6(ATRX):c.6085A>G (p.Met2029Val)
|
rs2148115836
|
|
NM_000489.6(ATRX):c.6125A>G (p.Gln2042Arg)
|
|
|
NM_000489.6(ATRX):c.6200A>T (p.Lys2067Ile)
|
|
|
NM_000489.6(ATRX):c.6217+12A>G
|
rs2148088080
|
|
NM_000489.6(ATRX):c.6241A>T (p.Ile2081Phe)
|
|
|
NM_000489.6(ATRX):c.6379G>A (p.Val2127Ile)
|
rs1602536860
|
|
NM_000489.6(ATRX):c.6386C>G (p.Ala2129Gly)
|
|
|
NM_000489.6(ATRX):c.6458G>A (p.Arg2153His)
|
|
|
NM_000489.6(ATRX):c.6473A>G (p.Lys2158Arg)
|
rs2147947274
|
|
NM_000489.6(ATRX):c.6484G>A (p.Val2162Ile)
|
rs1569523175
|
|
NM_000489.6(ATRX):c.6487T>C (p.Tyr2163His)
|
|
|
NM_000489.6(ATRX):c.649G>A (p.Asp217Asn)
|
rs2071472042
|
|
NM_000489.6(ATRX):c.6504+3A>G
|
|
|
NM_000489.6(ATRX):c.6508A>G (p.Thr2170Ala)
|
|
|
NM_000489.6(ATRX):c.658T>C (p.Cys220Arg)
|
|
|
NM_000489.6(ATRX):c.6651C>A (p.Asp2217Glu)
|
rs2147941386
|
|
NM_000489.6(ATRX):c.6665AGA[3] (p.Lys2225del)
|
|
|
NM_000489.6(ATRX):c.6674A>G (p.Lys2225Arg)
|
rs2064848419
|
|
NM_000489.6(ATRX):c.668G>C (p.Cys223Ser)
|
|
|
NM_000489.6(ATRX):c.6725A>G (p.Gln2242Arg)
|
|
|
NM_000489.6(ATRX):c.6730C>T (p.His2244Tyr)
|
rs1569515985
|
|
NM_000489.6(ATRX):c.6733A>C (p.Lys2245Gln)
|
|
|
NM_000489.6(ATRX):c.6849+5T>C
|
|
|
NM_000489.6(ATRX):c.6850-19A>G
|
rs2063260471
|
|
NM_000489.6(ATRX):c.6862C>T (p.Arg2288Cys)
|
|
|
NM_000489.6(ATRX):c.6863G>A (p.Arg2288His)
|
rs1135401774
|
|
NM_000489.6(ATRX):c.6943G>A (p.Ala2315Thr)
|
rs2063256154
|
|
NM_000489.6(ATRX):c.6959G>A (p.Ser2320Asn)
|
rs2147748165
|
|
NM_000489.6(ATRX):c.6961A>G (p.Asn2321Asp)
|
rs2147748088
|
|
NM_000489.6(ATRX):c.6962A>G (p.Asn2321Ser)
|
|
|
NM_000489.6(ATRX):c.6975+6T>C
|
|
|
NM_000489.6(ATRX):c.6978C>A (p.Asp2326Glu)
|
rs1569515631
|
|
NM_000489.6(ATRX):c.6983_6985del (p.Ile2328del)
|
|
|
NM_000489.6(ATRX):c.7024G>A (p.Val2342Met)
|
|
|
NM_000489.6(ATRX):c.70C>T (p.His24Tyr)
|
rs1191670776
|
|
NM_000489.6(ATRX):c.7139A>T (p.Gln2380Leu)
|
|
|
NM_000489.6(ATRX):c.7166C>T (p.Ala2389Val)
|
|
|
NM_000489.6(ATRX):c.7175A>G (p.Asn2392Ser)
|
|
|
NM_000489.6(ATRX):c.7260GCA[1] (p.Gln2425del)
|
rs2147651554
|
|
NM_000489.6(ATRX):c.7278G>A (p.Met2426Ile)
|
rs2062761742
|
|
NM_000489.6(ATRX):c.7367T>C (p.Met2456Thr)
|
rs2147648215
|
|
NM_000489.6(ATRX):c.7367T>G (p.Met2456Arg)
|
|
|
NM_000489.6(ATRX):c.7373G>T (p.Gly2458Val)
|
|
|
NM_000489.6(ATRX):c.737G>T (p.Arg246Leu)
|
rs1603226766
|
|
NM_000489.6(ATRX):c.7390G>A (p.Ala2464Thr)
|
|
|
NM_000489.6(ATRX):c.7468A>T (p.Lys2490Ter)
|
|
|
NM_000489.6(ATRX):c.7472del (p.Lys2490_Ser2491insTer)
|
rs2147645829
|
|
NM_000489.6(ATRX):c.763A>G (p.Thr255Ala)
|
|
|
NM_000489.6(ATRX):c.766A>G (p.Ile256Val)
|
|
|
NM_000489.6(ATRX):c.783C>G (p.Asn261Lys)
|
|
|
NM_000489.6(ATRX):c.806A>G (p.His269Arg)
|
|
|
NM_000489.6(ATRX):c.824A>G (p.Asp275Gly)
|
|
|
NM_000489.6(ATRX):c.829G>C (p.Val277Leu)
|
rs1569539465
|
|
NM_000489.6(ATRX):c.869T>C (p.Leu290Ser)
|
|
|
NM_000489.6(ATRX):c.902A>G (p.Asp301Gly)
|
|
|
NM_000489.6(ATRX):c.958A>C (p.Thr320Pro)
|
rs2071431525
|
|
NM_000489.6(ATRX):c.983A>G (p.Glu328Gly)
|
rs1557142526
|
|
NM_000489.6(ATRX):c.98G>A (p.Ser33Asn)
|
|
|
NM_000489.6(ATRX):c.991T>G (p.Leu331Val)
|
|
|
NM_000489.6(ATRX):c.992T>C (p.Leu331Ser)
|
rs2148633005
|
|
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala)
|
rs752183295
|
|
NM_001015877.2(PHF6):c.1011AGA[1] (p.Glu338del)
|
|
|
NM_001015877.2(PHF6):c.1015G>A (p.Asp339Asn)
|
|
|
NM_001015877.2(PHF6):c.1020_1022del (p.Glu341del)
|
|
|
NM_001015877.2(PHF6):c.1052A>G (p.Glu351Gly)
|
|
|
NM_001015877.2(PHF6):c.157G>T (p.Val53Leu)
|
|
|
NM_001015877.2(PHF6):c.310C>G (p.His104Asp)
|
rs2077363957
|
|
NM_001015877.2(PHF6):c.374T>A (p.Met125Lys)
|
|
|
NM_001015877.2(PHF6):c.375G>A (p.Met125Ile)
|
|
|
NM_001015877.2(PHF6):c.440A>T (p.Asn147Ile)
|
rs2077459540
|
|
NM_001015877.2(PHF6):c.623C>T (p.Thr208Ile)
|
|
|
NM_001015877.2(PHF6):c.766_768del (p.Ser256del)
|
|
|
NM_001015877.2(PHF6):c.829A>G (p.Arg277Gly)
|
|
|
NM_001015877.2(PHF6):c.865A>G (p.Thr289Ala)
|
rs2077475371
|
|
NM_001015877.2(PHF6):c.86G>C (p.Gly29Ala)
|
rs2077284343
|
|
NM_001015877.2(PHF6):c.89A>G (p.Gln30Arg)
|
|
|
NM_001079872.2(CUL4B):c.1083A>G (p.Gln361=)
|
|
|
NM_001079872.2(CUL4B):c.1106A>G (p.Gln369Arg)
|
rs1556213268
|
|
NM_001079872.2(CUL4B):c.1130G>A (p.Arg377Gln)
|
|
|
NM_001079872.2(CUL4B):c.1399G>T (p.Gly467Cys)
|
|
|
NM_001079872.2(CUL4B):c.141CAG[3] (p.Ser49_Asn50insSer)
|
|
|
NM_001079872.2(CUL4B):c.1480G>A (p.Asp494Asn)
|
rs2147329944
|
|
NM_001079872.2(CUL4B):c.164G>A (p.Arg55Lys)
|
rs2147350219
|
|
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His)
|
rs1923849803
|
|
NM_001079872.2(CUL4B):c.1747G>T (p.Asp583Tyr)
|
|
|
NM_001079872.2(CUL4B):c.1853-13A>G
|
|
|
NM_001079872.2(CUL4B):c.188C>T (p.Ser63Phe)
|
|
|
NM_001079872.2(CUL4B):c.220G>A (p.Asp74Asn)
|
|
|
NM_001079872.2(CUL4B):c.224C>T (p.Ser75Leu)
|
|
|
NM_001079872.2(CUL4B):c.2390A>T (p.Lys797Ile)
|
|
|
NM_001079872.2(CUL4B):c.2506A>G (p.Ile836Val)
|
|
|
NM_001079872.2(CUL4B):c.2592+3A>T
|
|
|
NM_001079872.2(CUL4B):c.2677dup (p.Tyr893fs)
|
rs2147314730
|
|
NM_001079872.2(CUL4B):c.307T>C (p.Phe103Leu)
|
|
|
NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly)
|
|
|
NM_001079872.2(CUL4B):c.360CTC[3] (p.Ser126_Ser128del)
|
rs754330779
|
|
NM_001079872.2(CUL4B):c.37GCT[6] (p.Ala17dup)
|
rs746690704
|
|
NM_001079872.2(CUL4B):c.481TCT[1] (p.Ser162del)
|
|
|
NM_001079872.2(CUL4B):c.496T>C (p.Ser166Pro)
|
|
|
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg)
|
rs1199433297
|
|
NM_001079872.2(CUL4B):c.695A>T (p.Tyr232Phe)
|
|
|
NM_001079872.2(CUL4B):c.76G>A (p.Gly26Ser)
|
|
|
NM_001079872.2(CUL4B):c.811A>T (p.Ile271Phe)
|
|
|
NM_001079872.2(CUL4B):c.925A>T (p.Met309Leu)
|
|
|
NM_001079872.2(CUL4B):c.932T>A (p.Leu311Gln)
|
|
|
NM_001079872.2(CUL4B):c.951TAT[1] (p.Ile319del)
|
rs1556214312
|
|
NM_001110556.2(FLNA):c.1022C>T (p.Thr341Ile)
|
|
|
NM_001110556.2(FLNA):c.1088A>G (p.Gln363Arg)
|
rs1557179289
|
|
NM_001110556.2(FLNA):c.108GGA[1] (p.Glu37del)
|
rs2067803106
|
|
NM_001110556.2(FLNA):c.1091A>G (p.His364Arg)
|
|
|
NM_001110556.2(FLNA):c.1105C>G (p.Pro369Ala)
|
rs1029103588
|
|
NM_001110556.2(FLNA):c.1111G>C (p.Glu371Gln)
|
rs1557179279
|
|
NM_001110556.2(FLNA):c.1125T>G (p.Asp375Glu)
|
|
|
NM_001110556.2(FLNA):c.1133A>G (p.Gln378Arg)
|
|
|
NM_001110556.2(FLNA):c.1141G>A (p.Ala381Thr)
|
rs781984427
|
|
NM_001110556.2(FLNA):c.1154C>T (p.Thr385Ile)
|
rs2148118000
|
|
NM_001110556.2(FLNA):c.115G>T (p.Ala39Ser)
|
rs2067803076
|
|
NM_001110556.2(FLNA):c.1169G>T (p.Gly390Val)
|
|
|
NM_001110556.2(FLNA):c.1201A>G (p.Thr401Ala)
|
|
|
NM_001110556.2(FLNA):c.1202C>T (p.Thr401Ile)
|
rs782816272
|
|
NM_001110556.2(FLNA):c.1208A>C (p.Tyr403Ser)
|
|
|
NM_001110556.2(FLNA):c.1229G>A (p.Gly410Glu)
|
|
|
NM_001110556.2(FLNA):c.1232C>T (p.Ala411Val)
|
rs2148117837
|
|
NM_001110556.2(FLNA):c.1252G>T (p.Val418Phe)
|
|
|
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg)
|
rs1569551930
|
|
NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser)
|
rs863223643
|
|
NM_001110556.2(FLNA):c.129G>C (p.Lys43Asn)
|
rs1569551929
|
|
NM_001110556.2(FLNA):c.1317C>G (p.Asp439Glu)
|
|
|
NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr)
|
rs782649138
|
|
NM_001110556.2(FLNA):c.1322C>T (p.Thr441Ile)
|
|
|
NM_001110556.2(FLNA):c.1330T>C (p.Cys444Arg)
|
rs1557179178
|
|
NM_001110556.2(FLNA):c.1342C>A (p.Pro448Thr)
|
rs2067757344
|
|
NM_001110556.2(FLNA):c.1348A>T (p.Met450Leu)
|
rs2148117655
|
|
NM_001110556.2(FLNA):c.1351G>A (p.Glu451Lys)
|
|
|
NM_001110556.2(FLNA):c.1354G>A (p.Gly452Ser)
|
|
|
NM_001110556.2(FLNA):c.1355G>A (p.Gly452Asp)
|
rs2067757148
|
|
NM_001110556.2(FLNA):c.1357G>A (p.Val453Ile)
|
|
|
NM_001110556.2(FLNA):c.1371C>G (p.His457Gln)
|
rs202112979
|
|
NM_001110556.2(FLNA):c.1375A>G (p.Thr459Ala)
|
rs1244330871
|
|
NM_001110556.2(FLNA):c.1376C>A (p.Thr459Lys)
|
rs375463904
|
|
NM_001110556.2(FLNA):c.1387G>T (p.Val463Leu)
|
|
|
NM_001110556.2(FLNA):c.1396C>T (p.Pro466Ser)
|
|
|
NM_001110556.2(FLNA):c.1406C>G (p.Pro469Arg)
|
|
|
NM_001110556.2(FLNA):c.1429G>A (p.Ala477Thr)
|
rs2148117564
|
|
NM_001110556.2(FLNA):c.1429G>C (p.Ala477Pro)
|
|
|
NM_001110556.2(FLNA):c.142A>C (p.Thr48Pro)
|
|
|
NM_001110556.2(FLNA):c.1430C>T (p.Ala477Val)
|
|
|
NM_001110556.2(FLNA):c.1433G>A (p.Cys478Tyr)
|
|
|
NM_001110556.2(FLNA):c.1438C>A (p.Pro480Thr)
|
|
|
NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser)
|
rs782682232
|
|
NM_001110556.2(FLNA):c.1439C>A (p.Pro480Gln)
|
|
|
NM_001110556.2(FLNA):c.1457T>C (p.Val486Ala)
|
|
|
NM_001110556.2(FLNA):c.1459G>A (p.Gly487Ser)
|
|
|
NM_001110556.2(FLNA):c.1466G>T (p.Gly489Val)
|
|
|
NM_001110556.2(FLNA):c.1472A>T (p.Gln491Leu)
|
|
|
NM_001110556.2(FLNA):c.1478A>G (p.Lys493Arg)
|
|
|
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn)
|
rs1557179001
|
|
NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp)
|
rs868994092
|
|
NM_001110556.2(FLNA):c.1552A>G (p.Thr518Ala)
|
|
|
NM_001110556.2(FLNA):c.1565C>T (p.Pro522Leu)
|
|
|
NM_001110556.2(FLNA):c.1568-3C>T
|
|
|
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu)
|
rs1557178957
|
|
NM_001110556.2(FLNA):c.1582G>C (p.Val528Leu)
|
rs143873938
|
|
NM_001110556.2(FLNA):c.1601_1603dup (p.Gly534_Asp535insGly)
|
|
|
NM_001110556.2(FLNA):c.1607G>A (p.Gly536Asp)
|
|
|
NM_001110556.2(FLNA):c.1609G>C (p.Val537Leu)
|
rs782067087
|
|
NM_001110556.2(FLNA):c.1610T>C (p.Val537Ala)
|
|
|
NM_001110556.2(FLNA):c.1616G>C (p.Gly539Ala)
|
rs863223618
|
|
NM_001110556.2(FLNA):c.1621G>C (p.Glu541Gln)
|
rs743546
|
|
NM_001110556.2(FLNA):c.1628A>G (p.Tyr543Cys)
|
rs41304984
|
|
NM_001110556.2(FLNA):c.1635G>A (p.Met545Ile)
|
|
|
NM_001110556.2(FLNA):c.1643G>A (p.Gly548Glu)
|
|
|
NM_001110556.2(FLNA):c.1657A>G (p.Thr553Ala)
|
|
|
NM_001110556.2(FLNA):c.1673G>T (p.Gly558Val)
|
|
|
NM_001110556.2(FLNA):c.167A>G (p.His56Arg)
|
rs2148121997
|
|
NM_001110556.2(FLNA):c.168C>G (p.His56Gln)
|
rs1569551928
|
|
NM_001110556.2(FLNA):c.1692-16G>T
|
|
|
NM_001110556.2(FLNA):c.16T>G (p.Ser6Ala)
|
|
|
NM_001110556.2(FLNA):c.1712G>A (p.Gly571Asp)
|
|
|
NM_001110556.2(FLNA):c.1739G>A (p.Arg580Gln)
|
|
|
NM_001110556.2(FLNA):c.1769T>A (p.Val590Asp)
|
|
|
NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu)
|
rs1603362453
|
|
NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly)
|
rs1603362451
|
|
NM_001110556.2(FLNA):c.1804A>G (p.Ile602Val)
|
rs1057522788
|
|
NM_001110556.2(FLNA):c.1816G>A (p.Val606Met)
|
rs2067743164
|
|
NM_001110556.2(FLNA):c.1828+6T>C
|
|
|
NM_001110556.2(FLNA):c.1829-3C>T
|
rs2148116361
|
|
NM_001110556.2(FLNA):c.182G>A (p.Ser61Asn)
|
rs1557180197
|
|
NM_001110556.2(FLNA):c.1844G>A (p.Gly615Glu)
|
rs2148116352
|
|
NM_001110556.2(FLNA):c.1855G>C (p.Ala619Pro)
|
rs2148116341
|
|
NM_001110556.2(FLNA):c.185A>G (p.Lys62Arg)
|
rs2148121972
|
|
NM_001110556.2(FLNA):c.1864G>A (p.Glu622Lys)
|
rs1131691935
|
|
NM_001110556.2(FLNA):c.1867T>C (p.Cys623Arg)
|
|
|
NM_001110556.2(FLNA):c.186G>T (p.Lys62Asn)
|
rs2148121969
|
|
NM_001110556.2(FLNA):c.1882G>T (p.Asp628Tyr)
|
|
|
NM_001110556.2(FLNA):c.1915G>A (p.Glu639Lys)
|
|
|
NM_001110556.2(FLNA):c.1922G>T (p.Gly641Val)
|
rs2148116278
|
|
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)
|
rs80338841
|
|
NM_001110556.2(FLNA):c.1927T>G (p.Tyr643Asp)
|
|
|
NM_001110556.2(FLNA):c.1931C>T (p.Ala644Val)
|
|
|
NM_001110556.2(FLNA):c.1936C>A (p.His646Asn)
|
|
|
NM_001110556.2(FLNA):c.1940T>G (p.Val647Gly)
|
|
|
NM_001110556.2(FLNA):c.1946G>A (p.Cys649Tyr)
|
|
|
NM_001110556.2(FLNA):c.194C>T (p.Ala65Val)
|
|
|
NM_001110556.2(FLNA):c.1958A>G (p.Asp653Gly)
|
rs1249111377
|
|
NM_001110556.2(FLNA):c.1961T>C (p.Ile654Thr)
|
|
|
NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr)
|
rs1569551926
|
|
NM_001110556.2(FLNA):c.1981G>A (p.Ala661Thr)
|
|
|
NM_001110556.2(FLNA):c.1991G>T (p.Arg664Leu)
|
rs1271495778
|
|
NM_001110556.2(FLNA):c.2003A>C (p.Gln668Pro)
|
|
|
NM_001110556.2(FLNA):c.2003A>G (p.Gln668Arg)
|
rs1603362336
|
|
NM_001110556.2(FLNA):c.2007C>G (p.Asp669Glu)
|
|
|
NM_001110556.2(FLNA):c.2019C>A (p.Asp673Glu)
|
|
|
NM_001110556.2(FLNA):c.2020A>G (p.Arg674Gly)
|
rs2067740244
|
|
NM_001110556.2(FLNA):c.2022+6G>A
|
|
|
NM_001110556.2(FLNA):c.2038C>T (p.Pro680Ser)
|
|
|
NM_001110556.2(FLNA):c.2071A>C (p.Lys691Gln)
|
rs2067738505
|
|
NM_001110556.2(FLNA):c.2094T>G (p.Asp698Glu)
|
rs2148115999
|
|
NM_001110556.2(FLNA):c.2113G>A (p.Ala705Thr)
|
rs2148115967
|
|
NM_001110556.2(FLNA):c.2137-3C>G
|
rs1315164840
|
|
NM_001110556.2(FLNA):c.2167G>A (p.Val723Ile)
|
rs2148115805
|
|
NM_001110556.2(FLNA):c.2167G>C (p.Val723Leu)
|
rs2148115805
|
|
NM_001110556.2(FLNA):c.2170A>G (p.Lys724Glu)
|
rs2067736374
|
|
NM_001110556.2(FLNA):c.2189C>G (p.Thr730Ser)
|
rs2067736058
|
|
NM_001110556.2(FLNA):c.2189C>T (p.Thr730Ile)
|
|
|
NM_001110556.2(FLNA):c.2203T>C (p.Tyr735His)
|
|
|
NM_001110556.2(FLNA):c.2204A>G (p.Tyr735Cys)
|
rs1603362223
|
|
NM_001110556.2(FLNA):c.2233G>T (p.Ala745Ser)
|
rs1336740117
|
|
NM_001110556.2(FLNA):c.2247G>C (p.Trp749Cys)
|
rs2148115714
|
|
NM_001110556.2(FLNA):c.2254G>C (p.Val752Leu)
|
|
|
NM_001110556.2(FLNA):c.2254_2268delinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal)
|
rs863223631
|
|
NM_001110556.2(FLNA):c.2267A>G (p.Asn756Ser)
|
rs781874902
|
|
NM_001110556.2(FLNA):c.2272C>T (p.Pro758Ser)
|
|
|
NM_001110556.2(FLNA):c.2281-3C>A
|
rs1603361933
|
|
NM_001110556.2(FLNA):c.2317A>G (p.Lys773Glu)
|
|
|
NM_001110556.2(FLNA):c.2319A>C (p.Lys773Asn)
|
rs1060500719
|
|
NM_001110556.2(FLNA):c.2319A>T (p.Lys773Asn)
|
rs1060500719
|
|
NM_001110556.2(FLNA):c.2332G>A (p.Gly778Arg)
|
rs2148114671
|
|
NM_001110556.2(FLNA):c.2357C>G (p.Ala786Gly)
|
rs2067722548
|
|
NM_001110556.2(FLNA):c.2366C>T (p.Pro789Leu)
|
|
|
NM_001110556.2(FLNA):c.2389G>T (p.Ala797Ser)
|
rs201073998
|
|
NM_001110556.2(FLNA):c.2395G>A (p.Ala799Thr)
|
|
|
NM_001110556.2(FLNA):c.23C>T (p.Ala8Val)
|
|
|
NM_001110556.2(FLNA):c.2405-17_2405-3del
|
rs2067721254
|
|
NM_001110556.2(FLNA):c.2405-3C>A
|
|
|
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val)
|
rs2148114467
|
|
NM_001110556.2(FLNA):c.2488G>T (p.Asp830Tyr)
|
rs782470966
|
|
NM_001110556.2(FLNA):c.24G>A (p.Ala8=)
|
|
|
NM_001110556.2(FLNA):c.2519C>T (p.Pro840Leu)
|
|
|
NM_001110556.2(FLNA):c.2524G>A (p.Gly842Arg)
|
rs1557178241
|
|
NM_001110556.2(FLNA):c.2527G>T (p.Ala843Ser)
|
|
|
NM_001110556.2(FLNA):c.2543T>C (p.Ile848Thr)
|
rs2067719388
|
|
NM_001110556.2(FLNA):c.2545A>G (p.Met849Val)
|
rs2148114357
|
|
NM_001110556.2(FLNA):c.2565+6del
|
rs2148114334
|
|
NM_001110556.2(FLNA):c.2565G>A (p.Gln855=)
|
|
|
NM_001110556.2(FLNA):c.2566-6C>A
|
rs2067718449
|
|
NM_001110556.2(FLNA):c.2573C>T (p.Pro858Leu)
|
|
|
NM_001110556.2(FLNA):c.2588G>A (p.Arg863Gln)
|
|
|
NM_001110556.2(FLNA):c.2601G>T (p.Glu867Asp)
|
|
|
NM_001110556.2(FLNA):c.2603C>T (p.Pro868Leu)
|
|
|
NM_001110556.2(FLNA):c.2617A>C (p.Ser873Arg)
|
rs2067717840
|
|
NM_001110556.2(FLNA):c.2629G>C (p.Ala877Pro)
|
rs377046577
|
|
NM_001110556.2(FLNA):c.2632G>A (p.Glu878Lys)
|
rs1569551740
|
|
NM_001110556.2(FLNA):c.2633A>G (p.Glu878Gly)
|
|
|
NM_001110556.2(FLNA):c.2659G>A (p.Val887Ile)
|
rs1156296397
|
|
NM_001110556.2(FLNA):c.2672A>T (p.Lys891Met)
|
rs2148114112
|
|
NM_001110556.2(FLNA):c.2680C>A (p.His894Asn)
|
|
|
NM_001110556.2(FLNA):c.2687C>T (p.Thr896Ile)
|
rs1321859695
|
|
NM_001110556.2(FLNA):c.268C>T (p.His90Tyr)
|
rs2148121905
|
|
NM_001110556.2(FLNA):c.2690T>G (p.Val897Gly)
|
|
|
NM_001110556.2(FLNA):c.2695G>A (p.Ala899Thr)
|
rs2148114096
|
|
NM_001110556.2(FLNA):c.2713G>A (p.Gly905Ser)
|
|
|
NM_001110556.2(FLNA):c.271C>T (p.Arg91Cys)
|
|
|
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His)
|
rs1557178146
|
|
NM_001110556.2(FLNA):c.2767G>A (p.Val923Met)
|
|
|
NM_001110556.2(FLNA):c.2786A>G (p.His929Arg)
|
|
|
NM_001110556.2(FLNA):c.2788G>A (p.Asp930Asn)
|
|
|
NM_001110556.2(FLNA):c.2789ACA[1] (p.Asn931del)
|
|
|
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)
|
rs1557178134
|
|
NM_001110556.2(FLNA):c.2825A>T (p.Gln942Leu)
|
rs2067715037
|
|
NM_001110556.2(FLNA):c.2826+3A>G
|
|
|
NM_001110556.2(FLNA):c.2842A>G (p.Asn948Asp)
|
|
|
NM_001110556.2(FLNA):c.2848A>G (p.Thr950Ala)
|
|
|
NM_001110556.2(FLNA):c.2873A>G (p.Lys958Arg)
|
|
|
NM_001110556.2(FLNA):c.2875A>G (p.Ser959Gly)
|
|
|
NM_001110556.2(FLNA):c.2879C>G (p.Pro960Arg)
|
|
|
NM_001110556.2(FLNA):c.2930C>A (p.Ser977Tyr)
|
|
|
NM_001110556.2(FLNA):c.2933G>A (p.Gly978Asp)
|
|
|
NM_001110556.2(FLNA):c.2935C>G (p.Leu979Val)
|
|
|
NM_001110556.2(FLNA):c.2943G>A (p.Glu981=)
|
|
|
NM_001110556.2(FLNA):c.2949G>A (p.Val983=)
|
|
|
NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys)
|
rs1557178045
|
|
NM_001110556.2(FLNA):c.2971T>C (p.Phe991Leu)
|
rs2067711510
|
|
NM_001110556.2(FLNA):c.3021G>C (p.Lys1007Asn)
|
|
|
NM_001110556.2(FLNA):c.302A>G (p.Gln101Arg)
|
rs2067801711
|
|
NM_001110556.2(FLNA):c.3032C>G (p.Pro1011Arg)
|
|
|
NM_001110556.2(FLNA):c.3034T>G (p.Ser1012Ala)
|
rs1364359427
|
|
NM_001110556.2(FLNA):c.305T>G (p.Met102Arg)
|
rs2067801675
|
|
NM_001110556.2(FLNA):c.3060G>A (p.Val1020=)
|
|
|
NM_001110556.2(FLNA):c.3070C>G (p.Leu1024Val)
|
|
|
NM_001110556.2(FLNA):c.3071T>G (p.Leu1024Arg)
|
|
|
NM_001110556.2(FLNA):c.3074G>A (p.Gly1025Glu)
|
rs2148113514
|
|
NM_001110556.2(FLNA):c.3083A>G (p.Asn1028Ser)
|
|
|
NM_001110556.2(FLNA):c.3086G>A (p.Ser1029Asn)
|
|
|
NM_001110556.2(FLNA):c.3124G>A (p.Glu1042Lys)
|
|
|
NM_001110556.2(FLNA):c.3125A>G (p.Glu1042Gly)
|
|
|
NM_001110556.2(FLNA):c.3127G>T (p.Val1043Leu)
|
rs1475916528
|
|
NM_001110556.2(FLNA):c.3139T>C (p.Tyr1047His)
|
rs2067710102
|
|
NM_001110556.2(FLNA):c.3158C>G (p.Pro1053Arg)
|
|
|
NM_001110556.2(FLNA):c.3167C>T (p.Pro1056Leu)
|
|
|
NM_001110556.2(FLNA):c.3203G>C (p.Ser1068Thr)
|
|
|
NM_001110556.2(FLNA):c.3207+5T>C
|
rs782555499
|
|
NM_001110556.2(FLNA):c.3207+6T>A
|
|
|
NM_001110556.2(FLNA):c.3207+6del
|
|
|
NM_001110556.2(FLNA):c.3215C>T (p.Ala1072Val)
|
|
|
NM_001110556.2(FLNA):c.3223C>T (p.Pro1075Ser)
|
rs1336237133
|
|
NM_001110556.2(FLNA):c.323C>T (p.Ser108Leu)
|
|
|
NM_001110556.2(FLNA):c.3248G>A (p.Gly1083Asp)
|
rs2148112438
|
|
NM_001110556.2(FLNA):c.3251C>G (p.Ser1084Cys)
|
|
|
NM_001110556.2(FLNA):c.3256G>A (p.Ala1086Thr)
|
rs782632029
|
|
NM_001110556.2(FLNA):c.3259C>G (p.Arg1087Gly)
|
|
|
NM_001110556.2(FLNA):c.3270_3271delinsTA (p.Asp1091Asn)
|
|
|
NM_001110556.2(FLNA):c.3275C>G (p.Thr1092Ser)
|
|
|
NM_001110556.2(FLNA):c.3280G>T (p.Gly1094Cys)
|
rs2067697829
|
|
NM_001110556.2(FLNA):c.3301G>T (p.Gly1101Cys)
|
|
|
NM_001110556.2(FLNA):c.3310G>A (p.Val1104Met)
|
rs2148112364
|
|
NM_001110556.2(FLNA):c.3337G>A (p.Glu1113Lys)
|
rs1222602089
|
|
NM_001110556.2(FLNA):c.3342C>G (p.Cys1114Trp)
|
|
|
NM_001110556.2(FLNA):c.3352G>A (p.Gly1118Arg)
|
|
|
NM_001110556.2(FLNA):c.3362C>T (p.Thr1121Ile)
|
rs2067696805
|
|
NM_001110556.2(FLNA):c.338T>C (p.Phe113Ser)
|
rs1557180178
|
|
NM_001110556.2(FLNA):c.3406A>G (p.Ile1136Val)
|
rs782395522
|
|
NM_001110556.2(FLNA):c.3422C>G (p.Ala1141Gly)
|
|
|
NM_001110556.2(FLNA):c.3451A>G (p.Lys1151Glu)
|
rs2067695794
|
|
NM_001110556.2(FLNA):c.3455C>T (p.Ala1152Val)
|
rs1557177751
|
|
NM_001110556.2(FLNA):c.3467C>G (p.Pro1156Arg)
|
|
|
NM_001110556.2(FLNA):c.3478G>A (p.Ala1160Thr)
|
rs2148112194
|
|
NM_001110556.2(FLNA):c.347G>T (p.Arg116Leu)
|
|
|
NM_001110556.2(FLNA):c.3487G>C (p.Val1163Leu)
|
rs2148112185
|
|
NM_001110556.2(FLNA):c.3489C>T (p.Val1163=)
|
|
|
NM_001110556.2(FLNA):c.3490A>G (p.Lys1164Glu)
|
|
|
NM_001110556.2(FLNA):c.3497C>T (p.Ser1166Leu)
|
rs2148112179
|
|
NM_001110556.2(FLNA):c.34G>T (p.Ala12Ser)
|
rs868975259
|
|
NM_001110556.2(FLNA):c.3502C>T (p.Pro1168Ser)
|
rs2067695264
|
|
NM_001110556.2(FLNA):c.3514C>G (p.Arg1172Gly)
|
rs1557177743
|
|
NM_001110556.2(FLNA):c.3529G>A (p.Glu1177Lys)
|
rs1557177738
|
|
NM_001110556.2(FLNA):c.3561C>G (p.Ser1187Arg)
|
|
|
NM_001110556.2(FLNA):c.3574G>A (p.Glu1192Lys)
|
|
|
NM_001110556.2(FLNA):c.3588G>C (p.Glu1196Asp)
|
rs2067694581
|
|
NM_001110556.2(FLNA):c.35C>A (p.Ala12Glu)
|
|
|
NM_001110556.2(FLNA):c.3617A>G (p.Glu1206Gly)
|
rs863223622
|
|
NM_001110556.2(FLNA):c.3619G>T (p.Val1207Leu)
|
|
|
NM_001110556.2(FLNA):c.3634C>T (p.His1212Tyr)
|
rs782721742
|
|
NM_001110556.2(FLNA):c.3653C>G (p.Thr1218Ser)
|
rs2067693792
|
|
NM_001110556.2(FLNA):c.3664A>G (p.Ile1222Val)
|
|
|
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe)
|
rs1557177690
|
|
NM_001110556.2(FLNA):c.3671T>G (p.Leu1224Arg)
|
rs2148112042
|
|
NM_001110556.2(FLNA):c.3677C>T (p.Pro1226Leu)
|
rs2067693582
|
|
NM_001110556.2(FLNA):c.3686A>G (p.Tyr1229Cys)
|
|
|
NM_001110556.2(FLNA):c.3707G>C (p.Gly1236Ala)
|
|
|
NM_001110556.2(FLNA):c.3737A>C (p.Lys1246Thr)
|
|
|
NM_001110556.2(FLNA):c.374-10C>A
|
rs782709382
|
|
NM_001110556.2(FLNA):c.3743A>G (p.Gln1248Arg)
|
rs2067693046
|
|
NM_001110556.2(FLNA):c.3763A>G (p.Thr1255Ala)
|
rs2067692917
|
|
NM_001110556.2(FLNA):c.3766T>C (p.Ser1256Pro)
|
rs2148111936
|
|
NM_001110556.2(FLNA):c.3767C>A (p.Ser1256Tyr)
|
rs1557177666
|
|
NM_001110556.2(FLNA):c.3776A>G (p.Gln1259Arg)
|
rs2148111919
|
|
NM_001110556.2(FLNA):c.3780C>G (p.Cys1260Trp)
|
|
|
NM_001110556.2(FLNA):c.3815G>T (p.Arg1272Leu)
|
|
|
NM_001110556.2(FLNA):c.3827C>T (p.Thr1276Ile)
|
|
|
NM_001110556.2(FLNA):c.3844G>A (p.Ala1282Thr)
|
rs782466840
|
|
NM_001110556.2(FLNA):c.3848G>A (p.Arg1283Gln)
|
|
|
NM_001110556.2(FLNA):c.3856A>T (p.Thr1286Ser)
|
rs2067691272
|
|
NM_001110556.2(FLNA):c.3857C>T (p.Thr1286Ile)
|
|
|
NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His)
|
rs1557177627
|
|
NM_001110556.2(FLNA):c.3863C>G (p.Thr1288Ser)
|
rs2148111768
|
|
NM_001110556.2(FLNA):c.387C>G (p.Ile129Met)
|
|
|
NM_001110556.2(FLNA):c.388G>A (p.Val130Met)
|
|
|
NM_001110556.2(FLNA):c.3893C>T (p.Ala1298Val)
|
rs2067690791
|
|
NM_001110556.2(FLNA):c.3923A>C (p.Tyr1308Ser)
|
|
|
NM_001110556.2(FLNA):c.3928C>G (p.Gln1310Glu)
|
|
|
NM_001110556.2(FLNA):c.3937G>T (p.Gly1313Cys)
|
|
|
NM_001110556.2(FLNA):c.3941A>G (p.Asp1314Gly)
|
|
|
NM_001110556.2(FLNA):c.3946A>G (p.Met1316Val)
|
rs2148111681
|
|
NM_001110556.2(FLNA):c.3979+5G>A
|
rs1569551642
|
|
NM_001110556.2(FLNA):c.3979+6T>C
|
rs2148111652
|
|
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met)
|
rs1569551635
|
|
NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met)
|
rs782342052
|
|
NM_001110556.2(FLNA):c.4024A>G (p.Ser1342Gly)
|
|
|
NM_001110556.2(FLNA):c.4026C>A (p.Ser1342Arg)
|
|
|
NM_001110556.2(FLNA):c.4033T>G (p.Phe1345Val)
|
rs2148111513
|
|
NM_001110556.2(FLNA):c.4064C>T (p.Pro1355Leu)
|
|
|
NM_001110556.2(FLNA):c.4084G>A (p.Gly1362Arg)
|
rs2148111460
|
|
NM_001110556.2(FLNA):c.4093A>G (p.Ile1365Val)
|
rs782815741
|
|
NM_001110556.2(FLNA):c.410T>A (p.Ile137Asn)
|
rs1569551877
|
|
NM_001110556.2(FLNA):c.4117_4125del (p.Pro1373_Lys1375del)
|
|
|
NM_001110556.2(FLNA):c.4121A>G (p.Asn1374Ser)
|
rs2067687994
|
|
NM_001110556.2(FLNA):c.4124A>G (p.Lys1375Arg)
|
|
|
NM_001110556.2(FLNA):c.4143G>C (p.Arg1381Ser)
|
|
|
NM_001110556.2(FLNA):c.4157G>A (p.Gly1386Asp)
|
rs2067686967
|
|
NM_001110556.2(FLNA):c.4165G>T (p.Gly1389Cys)
|
|
|
NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile)
|
rs1603360869
|
|
NM_001110556.2(FLNA):c.4192G>C (p.Ala1398Pro)
|
|
|
NM_001110556.2(FLNA):c.4209G>C (p.Met1403Ile)
|
|
|
NM_001110556.2(FLNA):c.4234G>A (p.Val1412Ile)
|
rs2067686225
|
|
NM_001110556.2(FLNA):c.4243A>G (p.Ile1415Val)
|
rs2067686132
|
|
NM_001110556.2(FLNA):c.4255G>A (p.Ala1419Thr)
|
|
|
NM_001110556.2(FLNA):c.4283A>G (p.Tyr1428Cys)
|
|
|
NM_001110556.2(FLNA):c.4303+6G>T
|
|
|
NM_001110556.2(FLNA):c.4304-8A>G
|
rs2148111094
|
|
NM_001110556.2(FLNA):c.4327C>G (p.His1443Asp)
|
|
|
NM_001110556.2(FLNA):c.4333G>A (p.Val1445Met)
|
|
|
NM_001110556.2(FLNA):c.4334T>G (p.Val1445Gly)
|
|
|
NM_001110556.2(FLNA):c.4338A>G (p.Thr1446=)
|
|
|
NM_001110556.2(FLNA):c.4343C>G (p.Ala1448Gly)
|
rs201886752
|
|
NM_001110556.2(FLNA):c.4354A>G (p.Lys1452Glu)
|
|
|
NM_001110556.2(FLNA):c.4369G>A (p.Gly1457Ser)
|
rs374447840
|
|
NM_001110556.2(FLNA):c.4372C>G (p.Leu1458Val)
|
|
|
NM_001110556.2(FLNA):c.4375A>G (p.Ser1459Gly)
|
|
|
NM_001110556.2(FLNA):c.4388T>C (p.Val1463Ala)
|
rs2067684009
|
|
NM_001110556.2(FLNA):c.43G>T (p.Ala15Ser)
|
|
|
NM_001110556.2(FLNA):c.4438G>A (p.Val1480Met)
|
|
|
NM_001110556.2(FLNA):c.4449G>T (p.Leu1483Phe)
|
|
|
NM_001110556.2(FLNA):c.4452G>C (p.Gln1484His)
|
rs1569551606
|
|
NM_001110556.2(FLNA):c.4453G>A (p.Val1485Ile)
|
|
|
NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg)
|
rs782276039
|
|
NM_001110556.2(FLNA):c.4468C>T (p.Pro1490Ser)
|
|
|
NM_001110556.2(FLNA):c.4474+8_4474+9delinsAG
|
|
|
NM_001110556.2(FLNA):c.4475G>A (p.Gly1492Asp)
|
|
|
NM_001110556.2(FLNA):c.44C>A (p.Ala15Glu)
|
|
|
NM_001110556.2(FLNA):c.4506C>G (p.Asn1502Lys)
|
rs200857989
|
|
NM_001110556.2(FLNA):c.4520A>G (p.Gln1507Arg)
|
|
|
NM_001110556.2(FLNA):c.4523C>T (p.Thr1508Ile)
|
|
|
NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile)
|
rs782018054
|
|
NM_001110556.2(FLNA):c.4528A>T (p.Asn1510Tyr)
|
|
|
NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln)
|
rs782597696
|
|
NM_001110556.2(FLNA):c.4546G>A (p.Glu1516Lys)
|
|
|
NM_001110556.2(FLNA):c.4561A>G (p.Ile1521Val)
|
rs2148110566
|
|
NM_001110556.2(FLNA):c.4567G>A (p.Val1523Ile)
|
|
|
NM_001110556.2(FLNA):c.4588G>A (p.Val1530Ile)
|
rs2067679230
|
|
NM_001110556.2(FLNA):c.4589T>C (p.Val1530Ala)
|
rs1603360612
|
|
NM_001110556.2(FLNA):c.4589T>G (p.Val1530Gly)
|
rs1603360612
|
|
NM_001110556.2(FLNA):c.461T>G (p.Met154Arg)
|
|
|
NM_001110556.2(FLNA):c.463T>G (p.Trp155Gly)
|
rs2148119440
|
|
NM_001110556.2(FLNA):c.4646A>G (p.Lys1549Arg)
|
rs2148110417
|
|
NM_001110556.2(FLNA):c.464G>C (p.Trp155Ser)
|
rs1557179668
|
|
NM_001110556.2(FLNA):c.4651A>C (p.Ser1551Arg)
|
rs1557177249
|
|
NM_001110556.2(FLNA):c.4661G>A (p.Gly1554Glu)
|
|
|
NM_001110556.2(FLNA):c.4691T>G (p.Leu1564Arg)
|
|
|
NM_001110556.2(FLNA):c.4706C>A (p.Thr1569Asn)
|
|
|
NM_001110556.2(FLNA):c.4715C>G (p.Ala1572Gly)
|
|
|
NM_001110556.2(FLNA):c.471GGA[2] (p.Glu159del)
|
rs2067775754
|
|
NM_001110556.2(FLNA):c.4721_4732del (p.Asp1574_Glu1577del)
|
rs1557177229
|
|
NM_001110556.2(FLNA):c.473A>G (p.Glu158Gly)
|
rs2148119426
|
|
NM_001110556.2(FLNA):c.4754C>T (p.Thr1585Met)
|
rs2067677205
|
|
NM_001110556.2(FLNA):c.4755+3G>C
|
|
|
NM_001110556.2(FLNA):c.4762G>A (p.Glu1588Lys)
|
|
|
NM_001110556.2(FLNA):c.4770G>C (p.Lys1590Asn)
|
|
|
NM_001110556.2(FLNA):c.4772C>G (p.Pro1591Arg)
|
|
|
NM_001110556.2(FLNA):c.4774A>G (p.Lys1592Glu)
|
rs1311666006
|
|
NM_001110556.2(FLNA):c.4778A>C (p.Lys1593Thr)
|
|
|
NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp)
|
rs2067775793
|
|
NM_001110556.2(FLNA):c.47C>T (p.Ala16Val)
|
|
|
NM_001110556.2(FLNA):c.4814C>A (p.Thr1605Lys)
|
rs2148109766
|
|
NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu)
|
rs782082407
|
|
NM_001110556.2(FLNA):c.4834G>T (p.Val1612Leu)
|
|
|
NM_001110556.2(FLNA):c.484G>A (p.Glu162Lys)
|
|
|
NM_001110556.2(FLNA):c.4852A>G (p.Ile1618Val)
|
|
|
NM_001110556.2(FLNA):c.4855C>T (p.Leu1619Phe)
|
rs2148109695
|
|
NM_001110556.2(FLNA):c.4867G>A (p.Gly1623Ser)
|
|
|
NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr)
|
rs1569551875
|
|
NM_001110556.2(FLNA):c.4900G>A (p.Val1634Met)
|
|
|
NM_001110556.2(FLNA):c.4916C>T (p.Thr1639Ile)
|
rs2067671701
|
|
NM_001110556.2(FLNA):c.4936A>G (p.Thr1646Ala)
|
|
|
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)
|
rs1569551874
|
|
NM_001110556.2(FLNA):c.49C>T (p.Pro17Ser)
|
|
|
NM_001110556.2(FLNA):c.5011G>A (p.Val1671Met)
|
|
|
NM_001110556.2(FLNA):c.5054C>G (p.Thr1685Arg)
|
rs781783107
|
|
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup)
|
rs781960834
|
|
NM_001110556.2(FLNA):c.5104G>A (p.Glu1702Lys)
|
rs1468053311
|
|
NM_001110556.2(FLNA):c.510G>C (p.Gln170His)
|
|
|
NM_001110556.2(FLNA):c.5112_5114del (p.Glu1704del)
|
rs2148107489
|
|
NM_001110556.2(FLNA):c.5125G>T (p.Asp1709Tyr)
|
rs782286237
|
|
NM_001110556.2(FLNA):c.5128A>G (p.Ile1710Val)
|
|
|
NM_001110556.2(FLNA):c.5131T>A (p.Phe1711Ile)
|
|
|
NM_001110556.2(FLNA):c.5134T>C (p.Tyr1712His)
|
rs782311904
|
|
NM_001110556.2(FLNA):c.5157A>G (p.Lys1719=)
|
rs2148107420
|
|
NM_001110556.2(FLNA):c.5170G>A (p.Val1724Met)
|
|
|
NM_001110556.2(FLNA):c.5216C>T (p.Thr1739Met)
|
|
|
NM_001110556.2(FLNA):c.5239_5250del (p.Ser1747_Pro1750del)
|
rs1374504437
|
|
NM_001110556.2(FLNA):c.5242G>A (p.Val1748Met)
|
rs1020587429
|
|
NM_001110556.2(FLNA):c.5258G>C (p.Arg1753Pro)
|
|
|
NM_001110556.2(FLNA):c.5261C>T (p.Ser1754Phe)
|
rs1557176515
|
|
NM_001110556.2(FLNA):c.5281T>A (p.Tyr1761Asn)
|
rs1293701269
|
|
NM_001110556.2(FLNA):c.5314-3C>T
|
|
|
NM_001110556.2(FLNA):c.5333T>A (p.Val1778Glu)
|
rs2148106810
|
|
NM_001110556.2(FLNA):c.5350G>C (p.Asp1784His)
|
|
|
NM_001110556.2(FLNA):c.5353G>A (p.Val1785Met)
|
rs2148106780
|
|
NM_001110556.2(FLNA):c.5360G>A (p.Ser1787Asn)
|
|
|
NM_001110556.2(FLNA):c.5360G>C (p.Ser1787Thr)
|
rs1557176461
|
|
NM_001110556.2(FLNA):c.5366G>A (p.Arg1789Lys)
|
|
|
NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn)
|
rs1557179655
|
|
NM_001110556.2(FLNA):c.5393_5395del (p.Thr1798del)
|
rs2148106743
|
|
NM_001110556.2(FLNA):c.5395A>G (p.Ile1799Val)
|
|
|
NM_001110556.2(FLNA):c.53G>A (p.Gly18Asp)
|
|
|
NM_001110556.2(FLNA):c.53GCG[4] (p.Gly20_Val21insGly)
|
|
|
NM_001110556.2(FLNA):c.5400G>T (p.Lys1800Asn)
|
rs2067646548
|
|
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)
|
|
|
NM_001110556.2(FLNA):c.5416+4A>G
|
|
|
NM_001110556.2(FLNA):c.5416+5G>A
|
rs2067646346
|
|
NM_001110556.2(FLNA):c.5416+6T>G
|
rs2067646326
|
|
NM_001110556.2(FLNA):c.5417-18A>C
|
|
|
NM_001110556.2(FLNA):c.5428A>G (p.Met1810Val)
|
rs2067645436
|
|
NM_001110556.2(FLNA):c.5450A>G (p.Gln1817Arg)
|
|
|
NM_001110556.2(FLNA):c.545A>G (p.Gln182Arg)
|
|
|
NM_001110556.2(FLNA):c.5468A>G (p.Asn1823Ser)
|
|
|
NM_001110556.2(FLNA):c.5477G>A (p.Gly1826Asp)
|
|
|
NM_001110556.2(FLNA):c.5498C>T (p.Ala1833Val)
|
|
|
NM_001110556.2(FLNA):c.5506G>A (p.Glu1836Lys)
|
rs1557176399
|
|
NM_001110556.2(FLNA):c.5506G>C (p.Glu1836Gln)
|
rs1557176399
|
|
NM_001110556.2(FLNA):c.5510C>T (p.Ala1837Val)
|
rs2148106499
|
|
NM_001110556.2(FLNA):c.5534_5554del (p.Arg1845_Ile1851del)
|
rs2148106442
|
|
NM_001110556.2(FLNA):c.5545A>G (p.Met1849Val)
|
rs2148106450
|
|
NM_001110556.2(FLNA):c.5547G>A (p.Met1849Ile)
|
|
|
NM_001110556.2(FLNA):c.5550C>G (p.His1850Gln)
|
|
|
NM_001110556.2(FLNA):c.5557+6C>T
|
|
|
NM_001110556.2(FLNA):c.5558-12T>C
|
|
|
NM_001110556.2(FLNA):c.5558-20G>A
|
rs2148106327
|
|
NM_001110556.2(FLNA):c.5558-3C>T
|
|
|
NM_001110556.2(FLNA):c.5566T>G (p.Leu1856Val)
|
rs2148106298
|
|
NM_001110556.2(FLNA):c.5591A>C (p.Asn1864Thr)
|
rs782095418
|
|
NM_001110556.2(FLNA):c.5599C>T (p.His1867Tyr)
|
rs2067643018
|
|
NM_001110556.2(FLNA):c.5659A>G (p.Thr1887Ala)
|
rs886039107
|
|
NM_001110556.2(FLNA):c.5660C>A (p.Thr1887Asn)
|
|
|
NM_001110556.2(FLNA):c.5662G>A (p.Val1888Ile)
|
rs782669152
|
|
NM_001110556.2(FLNA):c.5686+6C>T
|
rs2148106131
|
|
NM_001110556.2(FLNA):c.5698C>G (p.Leu1900Val)
|
|
|
NM_001110556.2(FLNA):c.5701G>T (p.Ala1901Ser)
|
rs2067640521
|
|
NM_001110556.2(FLNA):c.5734T>G (p.Cys1912Gly)
|
|
|
NM_001110556.2(FLNA):c.5745C>G (p.Asn1915Lys)
|
|
|
NM_001110556.2(FLNA):c.5765T>A (p.Val1922Glu)
|
|
|
NM_001110556.2(FLNA):c.5774T>G (p.Leu1925Arg)
|
rs2148105776
|
|
NM_001110556.2(FLNA):c.5785C>T (p.Pro1929Ser)
|
|
|
NM_001110556.2(FLNA):c.5810A>G (p.Lys1937Arg)
|
|
|
NM_001110556.2(FLNA):c.5815A>G (p.Asn1939Asp)
|
rs1603359508
|
|
NM_001110556.2(FLNA):c.5822A>G (p.Gln1941Arg)
|
|
|
NM_001110556.2(FLNA):c.5830C>T (p.Pro1944Ser)
|
|
|
NM_001110556.2(FLNA):c.5849C>T (p.Ala1950Val)
|
|
|
NM_001110556.2(FLNA):c.5860+3G>A
|
rs2067638896
|
|
NM_001110556.2(FLNA):c.5872A>C (p.Met1958Leu)
|
|
|
NM_001110556.2(FLNA):c.5873T>A (p.Met1958Lys)
|
|
|
NM_001110556.2(FLNA):c.5873T>C (p.Met1958Thr)
|
|
|
NM_001110556.2(FLNA):c.5873T>G (p.Met1958Arg)
|
rs587780336
|
|
NM_001110556.2(FLNA):c.5883C>G (p.Ser1961=)
|
|
|
NM_001110556.2(FLNA):c.58G>A (p.Gly20Ser)
|
|
|
NM_001110556.2(FLNA):c.5921A>G (p.Asn1974Ser)
|
rs2067637324
|
|
NM_001110556.2(FLNA):c.5929G>A (p.Glu1977Lys)
|
|
|
NM_001110556.2(FLNA):c.5937T>A (p.Asp1979Glu)
|
|
|
NM_001110556.2(FLNA):c.5940_5945dup (p.Ser1981_Leu1982dup)
|
rs2148105435
|
|
NM_001110556.2(FLNA):c.5968C>T (p.Pro1990Ser)
|
|
|
NM_001110556.2(FLNA):c.5971T>C (p.Ser1991Pro)
|
rs2148105391
|
|
NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro)
|
rs782401919
|
|
NM_001110556.2(FLNA):c.5993T>C (p.Leu1998Ser)
|
|
|
NM_001110556.2(FLNA):c.6002G>T (p.Arg2001Leu)
|
|
|
NM_001110556.2(FLNA):c.6004C>A (p.Leu2002Met)
|
|
|
NM_001110556.2(FLNA):c.6022+6C>T
|
|
|
NM_001110556.2(FLNA):c.6022G>C (p.Gly2008Arg)
|
rs2148105300
|
|
NM_001110556.2(FLNA):c.6023-30_6023-9dup
|
|
|
NM_001110556.2(FLNA):c.6023G>A (p.Gly2008Glu)
|
|
|
NM_001110556.2(FLNA):c.6094A>G (p.Ser2032Gly)
|
|
|
NM_001110556.2(FLNA):c.6101C>A (p.Pro2034His)
|
|
|
NM_001110556.2(FLNA):c.6106C>A (p.Pro2036Thr)
|
|
|
NM_001110556.2(FLNA):c.6107C>T (p.Pro2036Leu)
|
rs1557176131
|
|
NM_001110556.2(FLNA):c.6142A>C (p.Ser2048Arg)
|
rs2067634018
|
|
NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His)
|
rs1557176118
|
|
NM_001110556.2(FLNA):c.6149T>C (p.Val2050Ala)
|
rs2148104996
|
|
NM_001110556.2(FLNA):c.6151C>T (p.Arg2051Trp)
|
|
|
NM_001110556.2(FLNA):c.6152G>C (p.Arg2051Pro)
|
|
|
NM_001110556.2(FLNA):c.6152G>T (p.Arg2051Leu)
|
|
|
NM_001110556.2(FLNA):c.6174C>G (p.His2058Gln)
|
|
|
NM_001110556.2(FLNA):c.6178G>T (p.Gly2060Cys)
|
rs2067633506
|
|
NM_001110556.2(FLNA):c.6193C>T (p.Pro2065Ser)
|
rs1603359334
|
|
NM_001110556.2(FLNA):c.6196G>A (p.Ala2066Thr)
|
rs2067633311
|
|
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys)
|
rs1557176102
|
|
NM_001110556.2(FLNA):c.619C>T (p.Pro207Ser)
|
rs1603363256
|
|
NM_001110556.2(FLNA):c.6205A>T (p.Ile2069Phe)
|
|
|
NM_001110556.2(FLNA):c.620C>A (p.Pro207Gln)
|
rs28935469
|
|
NM_001110556.2(FLNA):c.6215C>G (p.Thr2072Ser)
|
rs2067633067
|
|
NM_001110556.2(FLNA):c.6215C>T (p.Thr2072Ile)
|
|
|
NM_001110556.2(FLNA):c.621G>C (p.Pro207=)
|
|
|
NM_001110556.2(FLNA):c.622+3G>A
|
rs2148119314
|
|
NM_001110556.2(FLNA):c.622+6G>A
|
rs2067774543
|
|
NM_001110556.2(FLNA):c.622+6G>C
|
|
|
NM_001110556.2(FLNA):c.6227-18_6227-17insCCTGTCCTAGGTGCTAGGACCTA
|
|
|
NM_001110556.2(FLNA):c.623-10T>A
|
rs2067773575
|
|
NM_001110556.2(FLNA):c.6269T>C (p.Val2090Ala)
|
rs1569551477
|
|
NM_001110556.2(FLNA):c.6302C>T (p.Thr2101Met)
|
|
|
NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile)
|
rs782722036
|
|
NM_001110556.2(FLNA):c.6319T>G (p.Cys2107Gly)
|
rs1557176055
|
|
NM_001110556.2(FLNA):c.6320G>C (p.Cys2107Ser)
|
rs1557176052
|
|
NM_001110556.2(FLNA):c.6362C>A (p.Ala2121Asp)
|
rs868993210
|
|
NM_001110556.2(FLNA):c.6364G>C (p.Asp2122His)
|
|
|
NM_001110556.2(FLNA):c.6368A>G (p.Gln2123Arg)
|
|
|
NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln)
|
rs781999359
|
|
NM_001110556.2(FLNA):c.6379G>T (p.Gly2127Cys)
|
|
|
NM_001110556.2(FLNA):c.6404C>T (p.Thr2135Ile)
|
|
|
NM_001110556.2(FLNA):c.6422A>G (p.Lys2141Arg)
|
|
|
NM_001110556.2(FLNA):c.6426G>C (p.Glu2142Asp)
|
rs2067628711
|
|
NM_001110556.2(FLNA):c.6443G>A (p.Arg2148His)
|
|
|
NM_001110556.2(FLNA):c.6493A>C (p.Lys2165Gln)
|
|
|
NM_001110556.2(FLNA):c.6502+8C>G
|
rs1603359201
|
|
NM_001110556.2(FLNA):c.6503-3C>T
|
|
|
NM_001110556.2(FLNA):c.6511A>G (p.Ile2171Val)
|
|
|
NM_001110556.2(FLNA):c.6539G>A (p.Ser2180Asn)
|
|
|
NM_001110556.2(FLNA):c.6545C>T (p.Ser2182Leu)
|
|
|
NM_001110556.2(FLNA):c.6568A>C (p.Ile2190Leu)
|
rs1603359155
|
|
NM_001110556.2(FLNA):c.6588C>G (p.His2196Gln)
|
rs2148104059
|
|
NM_001110556.2(FLNA):c.6590C>T (p.Thr2197Ile)
|
rs2148104056
|
|
NM_001110556.2(FLNA):c.6595T>C (p.Cys2199Arg)
|
rs2148104046
|
|
NM_001110556.2(FLNA):c.6596G>C (p.Cys2199Ser)
|
|
|
NM_001110556.2(FLNA):c.659A>G (p.Lys220Arg)
|
|
|
NM_001110556.2(FLNA):c.6603C>G (p.Arg2201=)
|
|
|
NM_001110556.2(FLNA):c.6644A>G (p.Lys2215Arg)
|
|
|
NM_001110556.2(FLNA):c.6685A>T (p.Thr2229Ser)
|
|
|
NM_001110556.2(FLNA):c.6688G>A (p.Val2230Met)
|
rs2148103899
|
|
NM_001110556.2(FLNA):c.6705A>C (p.Glu2235Asp)
|
rs1057520156
|
|
NM_001110556.2(FLNA):c.671A>G (p.Asn224Ser)
|
|
|
NM_001110556.2(FLNA):c.6733G>A (p.Gly2245Ser)
|
rs2148103841
|
|
NM_001110556.2(FLNA):c.6754G>A (p.Glu2252Lys)
|
|
|
NM_001110556.2(FLNA):c.6766C>T (p.Pro2256Ser)
|
rs1603359077
|
|
NM_001110556.2(FLNA):c.6769+4G>A
|
rs2148103785
|
|
NM_001110556.2(FLNA):c.6773A>G (p.Glu2258Gly)
|
rs2148103588
|
|
NM_001110556.2(FLNA):c.6779G>A (p.Ser2260Asn)
|
|
|
NM_001110556.2(FLNA):c.677G>A (p.Arg226Gln)
|
rs2067772868
|
|
NM_001110556.2(FLNA):c.6809G>A (p.Gly2270Asp)
|
|
|
NM_001110556.2(FLNA):c.6815C>T (p.Ala2272Val)
|
|
|
NM_001110556.2(FLNA):c.6848T>G (p.Ile2283Ser)
|
|
|
NM_001110556.2(FLNA):c.6870C>A (p.Asp2290Glu)
|
rs782651736
|
|
NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe)
|
rs1557175878
|
|
NM_001110556.2(FLNA):c.687G>A (p.Met229Ile)
|
rs886044820
|
|
NM_001110556.2(FLNA):c.68C>A (p.Thr23Lys)
|
|
|
NM_001110556.2(FLNA):c.6901G>A (p.Glu2301Lys)
|
rs2148103452
|
|
NM_001110556.2(FLNA):c.6916G>A (p.Glu2306Lys)
|
rs1603358960
|
|
NM_001110556.2(FLNA):c.6928A>C (p.Lys2310Gln)
|
|
|
NM_001110556.2(FLNA):c.692A>G (p.Gln231Arg)
|
|
|
NM_001110556.2(FLNA):c.6933C>A (p.Phe2311Leu)
|
rs2148103163
|
|
NM_001110556.2(FLNA):c.6935A>G (p.Asn2312Ser)
|
rs2148103157
|
|
NM_001110556.2(FLNA):c.6952G>A (p.Asp2318Asn)
|
rs1557175822
|
|
NM_001110556.2(FLNA):c.695C>G (p.Ala232Gly)
|
|
|
NM_001110556.2(FLNA):c.6971C>T (p.Pro2324Leu)
|
|
|
NM_001110556.2(FLNA):c.6994G>A (p.Ala2332Thr)
|
rs2148103050
|
|
NM_001110556.2(FLNA):c.7001G>T (p.Arg2334Leu)
|
rs782770155
|
|
NM_001110556.2(FLNA):c.7009G>C (p.Val2337Leu)
|
|
|
NM_001110556.2(FLNA):c.7013C>T (p.Ser2338Phe)
|
rs781878646
|
|
NM_001110556.2(FLNA):c.7017C>A (p.Ser2339Arg)
|
|
|
NM_001110556.2(FLNA):c.7023+7C>T
|
rs2067619518
|
|
NM_001110556.2(FLNA):c.7024-18del
|
rs2148102297
|
|
NM_001110556.2(FLNA):c.7024-3C>T
|
|
|
NM_001110556.2(FLNA):c.7024G>A (p.Glu2342Lys)
|
rs2067614826
|
|
NM_001110556.2(FLNA):c.7043A>G (p.Asn2348Ser)
|
rs1557175657
|
|
NM_001110556.2(FLNA):c.7051G>C (p.Ala2351Pro)
|
rs1557175653
|
|
NM_001110556.2(FLNA):c.7053C>T (p.Ala2351=)
|
|
|
NM_001110556.2(FLNA):c.7088C>A (p.Ala2363Glu)
|
|
|
NM_001110556.2(FLNA):c.7088C>T (p.Ala2363Val)
|
|
|
NM_001110556.2(FLNA):c.7093G>A (p.Asp2365Asn)
|
rs2148102159
|
|
NM_001110556.2(FLNA):c.70C>G (p.Arg24Gly)
|
rs1164930154
|
|
NM_001110556.2(FLNA):c.70C>T (p.Arg24Trp)
|
rs1164930154
|
|
NM_001110556.2(FLNA):c.7136A>G (p.Tyr2379Cys)
|
|
|
NM_001110556.2(FLNA):c.714C>G (p.Ile238Met)
|
rs1557179587
|
|
NM_001110556.2(FLNA):c.7156+3G>C
|
|
|
NM_001110556.2(FLNA):c.7165G>A (p.Ala2389Thr)
|
rs2067608494
|
|
NM_001110556.2(FLNA):c.7174T>A (p.Phe2392Ile)
|
|
|
NM_001110556.2(FLNA):c.7178T>A (p.Ile2393Asn)
|
|
|
NM_001110556.2(FLNA):c.7180C>T (p.Pro2394Ser)
|
rs2148101380
|
|
NM_001110556.2(FLNA):c.7184G>A (p.Arg2395Gln)
|
|
|
NM_001110556.2(FLNA):c.7188G>C (p.Glu2396Asp)
|
rs1557175461
|
|
NM_001110556.2(FLNA):c.7189A>G (p.Asn2397Asp)
|
|
|
NM_001110556.2(FLNA):c.7195G>A (p.Val2399Ile)
|
rs878854463
|
|
NM_001110556.2(FLNA):c.7202T>C (p.Leu2401Pro)
|
rs1603358629
|
|
NM_001110556.2(FLNA):c.7221C>G (p.Asn2407Lys)
|
rs782129907
|
|
NM_001110556.2(FLNA):c.7223_7224delinsTT (p.Gly2408Val)
|
|
|
NM_001110556.2(FLNA):c.7244C>T (p.Pro2415Leu)
|
|
|
NM_001110556.2(FLNA):c.7276G>A (p.Gly2426Arg)
|
|
|
NM_001110556.2(FLNA):c.7295T>G (p.Val2432Gly)
|
|
|
NM_001110556.2(FLNA):c.7301C>T (p.Ala2434Val)
|
|
|
NM_001110556.2(FLNA):c.7318G>A (p.Glu2440Lys)
|
|
|
NM_001110556.2(FLNA):c.7332A>G (p.Thr2444=)
|
|
|
NM_001110556.2(FLNA):c.7334-13_7334-11del
|
|
|
NM_001110556.2(FLNA):c.7351G>A (p.Val2451Ile)
|
rs782613404
|
|
NM_001110556.2(FLNA):c.7363A>G (p.Ser2455Gly)
|
|
|
NM_001110556.2(FLNA):c.7369G>A (p.Ala2457Thr)
|
|
|
NM_001110556.2(FLNA):c.7372G>A (p.Gly2458Arg)
|
rs2148100988
|
|
NM_001110556.2(FLNA):c.7375G>A (p.Ala2459Thr)
|
rs1420001297
|
|
NM_001110556.2(FLNA):c.7381G>A (p.Ala2461Thr)
|
|
|
NM_001110556.2(FLNA):c.7394C>T (p.Thr2465Ile)
|
rs878854464
|
|
NM_001110556.2(FLNA):c.7405C>T (p.Pro2469Ser)
|
|
|
NM_001110556.2(FLNA):c.7409C>T (p.Ser2470Phe)
|
|
|
NM_001110556.2(FLNA):c.7423G>A (p.Asp2475Asn)
|
rs2148100917
|
|
NM_001110556.2(FLNA):c.7432G>A (p.Glu2478Lys)
|
|
|
NM_001110556.2(FLNA):c.7436G>T (p.Cys2479Phe)
|
rs2067604638
|
|
NM_001110556.2(FLNA):c.7439_7440inv (p.Pro2480Gln)
|
|
|
NM_001110556.2(FLNA):c.7448A>G (p.Tyr2483Cys)
|
rs2067604522
|
|
NM_001110556.2(FLNA):c.7450C>A (p.Arg2484Ser)
|
rs782557713
|
|
NM_001110556.2(FLNA):c.7507G>A (p.Gly2503Ser)
|
|
|
NM_001110556.2(FLNA):c.7511C>T (p.Pro2504Leu)
|
|
|
NM_001110556.2(FLNA):c.752A>G (p.Asn251Ser)
|
|
|
NM_001110556.2(FLNA):c.7556C>G (p.Pro2519Arg)
|
rs2067602794
|
|
NM_001110556.2(FLNA):c.7564_7566del (p.Val2522del)
|
|
|
NM_001110556.2(FLNA):c.7579C>A (p.Leu2527Ile)
|
|
|
NM_001110556.2(FLNA):c.75C>A (p.Asp25Glu)
|
|
|
NM_001110556.2(FLNA):c.7607A>T (p.Asp2536Val)
|
|
|
NM_001110556.2(FLNA):c.7612C>G (p.Leu2538Val)
|
|
|
NM_001110556.2(FLNA):c.7616C>T (p.Thr2539Ile)
|
|
|
NM_001110556.2(FLNA):c.7628G>T (p.Cys2543Phe)
|
|
|
NM_001110556.2(FLNA):c.7630G>T (p.Ala2544Ser)
|
rs782714612
|
|
NM_001110556.2(FLNA):c.7631C>A (p.Ala2544Asp)
|
|
|
NM_001110556.2(FLNA):c.7636C>G (p.Gln2546Glu)
|
|
|
NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser)
|
rs1557175287
|
|
NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr)
|
rs1060500720
|
|
NM_001110556.2(FLNA):c.7664C>T (p.Ala2555Val)
|
|
|
NM_001110556.2(FLNA):c.7673_7674delinsAG (p.Ser2558Lys)
|
|
|
NM_001110556.2(FLNA):c.7679T>C (p.Val2560Ala)
|
|
|
NM_001110556.2(FLNA):c.76G>A (p.Ala26Thr)
|
rs886038966
|
|
NM_001110556.2(FLNA):c.7739T>C (p.Val2580Ala)
|
|
|
NM_001110556.2(FLNA):c.7756+2T>A
|
|
|
NM_001110556.2(FLNA):c.7756+6C>A
|
|
|
NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro)
|
rs1603358284
|
|
NM_001110556.2(FLNA):c.7789C>T (p.Pro2597Ser)
|
|
|
NM_001110556.2(FLNA):c.7793G>A (p.Arg2598Lys)
|
|
|
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr)
|
rs1060500721
|
|
NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs)
|
rs1557175175
|
|
NM_001110556.2(FLNA):c.781C>G (p.Leu261Val)
|
rs2067771137
|
|
NM_001110556.2(FLNA):c.7847T>C (p.Val2616Ala)
|
rs782411364
|
|
NM_001110556.2(FLNA):c.7871G>C (p.Gly2624Ala)
|
|
|
NM_001110556.2(FLNA):c.7895G>T (p.Trp2632Leu)
|
|
|
NM_001110556.2(FLNA):c.7896G>C (p.Trp2632Cys)
|
rs398122812
|
|
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del)
|
rs863223635
|
|
NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile)
|
rs1557175110
|
|
NM_001110556.2(FLNA):c.7927C>G (p.Arg2643Gly)
|
rs200836471
|
|
NM_001110556.2(FLNA):c.7928G>C (p.Arg2643Pro)
|
rs782641074
|
|
NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del)
|
rs1060500715
|
|
NM_001110556.2(FLNA):c.81G>C (p.Glu27Asp)
|
|
|
NM_001110556.2(FLNA):c.830C>T (p.Pro277Leu)
|
rs1557179540
|
|
NM_001110556.2(FLNA):c.832A>G (p.Lys278Glu)
|
|
|
NM_001110556.2(FLNA):c.84G>C (p.Met28Ile)
|
rs1603363939
|
|
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys)
|
rs1557179536
|
|
NM_001110556.2(FLNA):c.889A>C (p.Met297Leu)
|
rs2148118498
|
|
NM_001110556.2(FLNA):c.910T>G (p.Phe304Val)
|
|
|
NM_001110556.2(FLNA):c.94G>A (p.Glu32Lys)
|
|
|
NM_001110556.2(FLNA):c.959T>G (p.Val320Gly)
|
rs1064816
|
|
NM_001110556.2(FLNA):c.95A>G (p.Glu32Gly)
|
rs2067803278
|
|
NM_001110556.2(FLNA):c.974G>A (p.Gly325Glu)
|
|
|
NM_001110556.2(FLNA):c.982G>C (p.Glu328Gln)
|
rs1342130392
|
|
NM_001110556.2(FLNA):c.989C>G (p.Ala330Gly)
|
|
|
NM_001110556.2(FLNA):c.991A>G (p.Lys331Glu)
|
|
|
NM_001184880.2(PCDH19):c.1000G>C (p.Val334Leu)
|
|
|
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn)
|
rs796052810
|
|
NM_001184880.2(PCDH19):c.1012G>T (p.Asp338Tyr)
|
rs2147539946
|
|
NM_001184880.2(PCDH19):c.1037T>C (p.Ile346Thr)
|
|
|
NM_001184880.2(PCDH19):c.103G>C (p.Ala35Pro)
|
rs2147542686
|
|
NM_001184880.2(PCDH19):c.1069G>A (p.Glu357Lys)
|
|
|
NM_001184880.2(PCDH19):c.106G>A (p.Gly36Arg)
|
|
|
NM_001184880.2(PCDH19):c.1080G>C (p.Glu360Asp)
|
rs2147539716
|
|
NM_001184880.2(PCDH19):c.1085C>T (p.Ala362Val)
|
rs776497186
|
|
NM_001184880.2(PCDH19):c.1090C>G (p.Pro364Ala)
|
|
|
NM_001184880.2(PCDH19):c.1097A>G (p.Tyr366Cys)
|
rs1928409253
|
|
NM_001184880.2(PCDH19):c.1104C>G (p.Ile368Met)
|
|
|
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)
|
rs1602636688
|
|
NM_001184880.2(PCDH19):c.1120T>A (p.Ser374Thr)
|
rs1928407939
|
|
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)
|
rs1928407580
|
|
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His)
|
rs1569315006
|
|
NM_001184880.2(PCDH19):c.115A>C (p.Ile39Leu)
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|
|
NM_001184880.2(PCDH19):c.1165C>G (p.Leu389Val)
|
rs1928404497
|
|
NM_001184880.2(PCDH19):c.1191G>A (p.Gln397=)
|
|
|
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg)
|
rs1928402131
|
|
NM_001184880.2(PCDH19):c.122A>G (p.Asn41Ser)
|
rs2147542647
|
|
NM_001184880.2(PCDH19):c.1232T>A (p.Leu411Gln)
|
|
|
NM_001184880.2(PCDH19):c.1250A>T (p.Asp417Val)
|
rs2147539257
|
|
NM_001184880.2(PCDH19):c.1252C>A (p.Gln418Lys)
|
|
|
NM_001184880.2(PCDH19):c.1252C>G (p.Gln418Glu)
|
|
|
NM_001184880.2(PCDH19):c.1276C>T (p.Arg426Cys)
|
rs1928399359
|
|
NM_001184880.2(PCDH19):c.1279G>A (p.Asp427Asn)
|
|
|
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu)
|
rs1555985244
|
|
NM_001184880.2(PCDH19):c.1292C>G (p.Pro431Arg)
|
rs1569314874
|
|
NM_001184880.2(PCDH19):c.1313C>A (p.Ser438Tyr)
|
|
|
NM_001184880.2(PCDH19):c.1319C>T (p.Thr440Ile)
|
|
|
NM_001184880.2(PCDH19):c.1321G>T (p.Val441Leu)
|
|
|
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu)
|
rs796052815
|
|
NM_001184880.2(PCDH19):c.1349A>C (p.His450Pro)
|
rs2147539030
|
|
NM_001184880.2(PCDH19):c.1352C>T (p.Pro451Leu)
|
|
|
NM_001184880.2(PCDH19):c.1360_1361delinsAA (p.Ser454Asn)
|
rs2147538982
|
|
NM_001184880.2(PCDH19):c.1364A>G (p.Lys455Arg)
|
|
|
NM_001184880.2(PCDH19):c.1366C>T (p.Pro456Ser)
|
|
|
NM_001184880.2(PCDH19):c.1372T>A (p.Tyr458Asn)
|
|
|
NM_001184880.2(PCDH19):c.1373A>G (p.Tyr458Cys)
|
rs1928392499
|
|
NM_001184880.2(PCDH19):c.1390G>C (p.Glu464Gln)
|
|
|
NM_001184880.2(PCDH19):c.140G>T (p.Arg47Leu)
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|
|
NM_001184880.2(PCDH19):c.1412A>G (p.Tyr471Cys)
|
|
|
NM_001184880.2(PCDH19):c.1427C>T (p.Ser476Phe)
|
|
|
NM_001184880.2(PCDH19):c.1430C>A (p.Ala477Asp)
|
|
|
NM_001184880.2(PCDH19):c.1430C>T (p.Ala477Val)
|
|
|
NM_001184880.2(PCDH19):c.1432C>T (p.Arg478Cys)
|
|
|
NM_001184880.2(PCDH19):c.1438C>T (p.Pro480Ser)
|
rs201320371
|
|
NM_001184880.2(PCDH19):c.1443C>G (p.Asp481Glu)
|
rs1602636091
|
|
NM_001184880.2(PCDH19):c.1444C>G (p.Leu482Val)
|
|
|
NM_001184880.2(PCDH19):c.1456G>C (p.Gly486Arg)
|
|
|
NM_001184880.2(PCDH19):c.1458C>T (p.Gly486=)
|
rs1602636047
|
|
NM_001184880.2(PCDH19):c.145G>A (p.Ala49Thr)
|
|
|
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys)
|
rs1555985142
|
|
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu)
|
rs1060502177
|
|
NM_001184880.2(PCDH19):c.1481C>G (p.Pro494Arg)
|
|
|
NM_001184880.2(PCDH19):c.1481C>T (p.Pro494Leu)
|
|
|
NM_001184880.2(PCDH19):c.1483T>C (p.Ser495Pro)
|
rs2147538640
|
|
NM_001184880.2(PCDH19):c.1488G>C (p.Gln496His)
|
rs2147538625
|
|
NM_001184880.2(PCDH19):c.1514A>G (p.Tyr505Cys)
|
rs1928382143
|
|
NM_001184880.2(PCDH19):c.1526A>G (p.Asn509Ser)
|
rs1928381502
|
|
NM_001184880.2(PCDH19):c.1538G>A (p.Gly513Asp)
|
rs1928380918
|
|
NM_001184880.2(PCDH19):c.1538G>T (p.Gly513Val)
|
rs1928380918
|
|
NM_001184880.2(PCDH19):c.154G>C (p.Ala52Pro)
|
|
|
NM_001184880.2(PCDH19):c.155C>T (p.Ala52Val)
|
rs2147542586
|
|
NM_001184880.2(PCDH19):c.1568A>C (p.His523Pro)
|
rs1928379105
|
|
NM_001184880.2(PCDH19):c.1569C>A (p.His523Gln)
|
|
|
NM_001184880.2(PCDH19):c.1581G>C (p.Lys527Asn)
|
|
|
NM_001184880.2(PCDH19):c.1601T>C (p.Leu534Pro)
|
|
|
NM_001184880.2(PCDH19):c.1611C>A (p.Asp537Glu)
|
rs766582540
|
|
NM_001184880.2(PCDH19):c.1613G>A (p.Gly538Asp)
|
|
|
NM_001184880.2(PCDH19):c.1628T>C (p.Leu543Pro)
|
|
|
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro)
|
rs1928375454
|
|
NM_001184880.2(PCDH19):c.1639_1640delinsTT (p.Ala547Phe)
|
rs1928375319
|
|
NM_001184880.2(PCDH19):c.163C>T (p.Pro55Ser)
|
|
|
NM_001184880.2(PCDH19):c.1643C>T (p.Thr548Met)
|
rs761718877
|
|
NM_001184880.2(PCDH19):c.164C>G (p.Pro55Arg)
|
rs1928476240
|
|
NM_001184880.2(PCDH19):c.1652T>A (p.Val551Asp)
|
rs1928373723
|
|
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala)
|
rs1928373723
|
|
NM_001184880.2(PCDH19):c.1660C>T (p.Leu554Phe)
|
|
|
NM_001184880.2(PCDH19):c.166C>G (p.Arg56Gly)
|
|
|
NM_001184880.2(PCDH19):c.1670A>G (p.Asn557Ser)
|
rs1928372472
|
|
NM_001184880.2(PCDH19):c.1675A>G (p.Asn559Asp)
|
rs2147538146
|
|
NM_001184880.2(PCDH19):c.167G>A (p.Arg56Gln)
|
rs1928475827
|
|
NM_001184880.2(PCDH19):c.1693G>A (p.Ala565Thr)
|
|
|
NM_001184880.2(PCDH19):c.1696C>G (p.Pro566Ala)
|
rs1928370474
|
|
NM_001184880.2(PCDH19):c.1718C>G (p.Ala573Gly)
|
|
|
NM_001184880.2(PCDH19):c.1727A>G (p.Tyr576Cys)
|
|
|
NM_001184880.2(PCDH19):c.1732C>T (p.Pro578Ser)
|
rs951696281
|
|
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn)
|
rs1928365978
|
|
NM_001184880.2(PCDH19):c.1808_1816del (p.Val603_Tyr605del)
|
rs1928365074
|
|
NM_001184880.2(PCDH19):c.1816G>A (p.Asp606Asn)
|
rs1928364873
|
|
NM_001184880.2(PCDH19):c.1816G>T (p.Asp606Tyr)
|
rs1928364873
|
|
NM_001184880.2(PCDH19):c.1817A>G (p.Asp606Gly)
|
rs2147537779
|
|
NM_001184880.2(PCDH19):c.1823C>T (p.Thr608Ile)
|
|
|
NM_001184880.2(PCDH19):c.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu)
|
rs1569314297
|
|
NM_001184880.2(PCDH19):c.1854C>G (p.Asp618Glu)
|
rs1569314304
|
|
NM_001184880.2(PCDH19):c.1862A>G (p.Asn621Ser)
|
|
|
NM_001184880.2(PCDH19):c.1865G>T (p.Gly622Val)
|
rs1928362026
|
|
NM_001184880.2(PCDH19):c.1873A>G (p.Arg625Gly)
|
rs796052822
|
|
NM_001184880.2(PCDH19):c.1891G>C (p.Gly631Arg)
|
|
|
NM_001184880.2(PCDH19):c.1891G>T (p.Gly631Trp)
|
rs750599959
|
|
NM_001184880.2(PCDH19):c.1904A>G (p.Lys635Arg)
|
|
|
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met)
|
rs1221643775
|
|
NM_001184880.2(PCDH19):c.1924G>T (p.Val642Leu)
|
|
|
NM_001184880.2(PCDH19):c.1936G>C (p.Asp646His)
|
|
|
NM_001184880.2(PCDH19):c.1942G>A (p.Gly648Ser)
|
|
|
NM_001184880.2(PCDH19):c.1973_1999del (p.Val658_Leu666del)
|
|
|
NM_001184880.2(PCDH19):c.197A>G (p.Asn66Ser)
|
|
|
NM_001184880.2(PCDH19):c.1988C>T (p.Ser663Phe)
|
rs2147537323
|
|
NM_001184880.2(PCDH19):c.1993_1994delinsAA (p.Ala665Asn)
|
|
|
NM_001184880.2(PCDH19):c.1996C>G (p.Leu666Val)
|
rs2147537309
|
|
NM_001184880.2(PCDH19):c.2023G>A (p.Val675Met)
|
|
|
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr)
|
rs1064797379
|
|
NM_001184880.2(PCDH19):c.2030T>C (p.Leu677Ser)
|
|
|
NM_001184880.2(PCDH19):c.203C>T (p.Ala68Val)
|
rs1928473737
|
|
NM_001184880.2(PCDH19):c.2063T>C (p.Ile688Thr)
|
rs2147537200
|
|
NM_001184880.2(PCDH19):c.2068G>C (p.Gly690Arg)
|
|
|
NM_001184880.2(PCDH19):c.211C>A (p.Leu71Ile)
|
|
|
NM_001184880.2(PCDH19):c.2148-8C>T
|
|
|
NM_001184880.2(PCDH19):c.2187A>G (p.Ile729Met)
|
rs1928262563
|
|
NM_001184880.2(PCDH19):c.2195A>G (p.Gln732Arg)
|
|
|
NM_001184880.2(PCDH19):c.2202C>T (p.Ser734=)
|
|
|
NM_001184880.2(PCDH19):c.2213A>T (p.His738Leu)
|
|
|
NM_001184880.2(PCDH19):c.2222C>G (p.Ser741Trp)
|
|
|
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu)
|
rs1335592289
|
|
NM_001184880.2(PCDH19):c.2230C>T (p.Pro744Ser)
|
|
|
NM_001184880.2(PCDH19):c.2239G>A (p.Glu747Lys)
|
rs1407091251
|
|
NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg)
|
rs1452944576
|
|
NM_001184880.2(PCDH19):c.2258C>A (p.Thr753Lys)
|
|
|
NM_001184880.2(PCDH19):c.2260G>A (p.Glu754Lys)
|
|
|
NM_001184880.2(PCDH19):c.2263_2288+1dup
|
rs779136255
|
|
NM_001184880.2(PCDH19):c.2274C>A (p.Ser758Arg)
|
rs1928258437
|
|
NM_001184880.2(PCDH19):c.2288+6A>G
|
rs948910239
|
|
NM_001184880.2(PCDH19):c.2289-2A>G
|
rs1928233784
|
|
NM_001184880.2(PCDH19):c.2302T>C (p.Ser768Pro)
|
|
|
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg)
|
rs1036691760
|
|
NM_001184880.2(PCDH19):c.2339A>T (p.Lys780Ile)
|
|
|
NM_001184880.2(PCDH19):c.2360G>A (p.Arg787His)
|
|
|
NM_001184880.2(PCDH19):c.2360G>T (p.Arg787Leu)
|
rs371839798
|
|
NM_001184880.2(PCDH19):c.2380GAG[1] (p.Glu795del)
|
|
|
NM_001184880.2(PCDH19):c.2381A>G (p.Glu794Gly)
|
rs1226080727
|
|
NM_001184880.2(PCDH19):c.2387C>T (p.Thr796Ile)
|
rs1928228798
|
|
NM_001184880.2(PCDH19):c.2392A>G (p.Lys798Glu)
|
rs2147533341
|
|
NM_001184880.2(PCDH19):c.2398A>C (p.Asn800His)
|
|
|
NM_001184880.2(PCDH19):c.2431C>A (p.Leu811Ile)
|
rs2147533269
|
|
NM_001184880.2(PCDH19):c.2435A>G (p.Asn812Ser)
|
|
|
NM_001184880.2(PCDH19):c.2446T>C (p.Tyr816His)
|
|
|
NM_001184880.2(PCDH19):c.2476C>T (p.Arg826Cys)
|
rs914370738
|
|
NM_001184880.2(PCDH19):c.2479C>T (p.Arg827Cys)
|
rs773732791
|
|
NM_001184880.2(PCDH19):c.2487G>C (p.Glu829Asp)
|
rs1928222467
|
|
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg)
|
rs1602632480
|
|
NM_001184880.2(PCDH19):c.2500A>G (p.Asn834Asp)
|
|
|
NM_001184880.2(PCDH19):c.2504T>C (p.Val835Ala)
|
|
|
NM_001184880.2(PCDH19):c.2522G>T (p.Arg841Leu)
|
rs756818874
|
|
NM_001184880.2(PCDH19):c.2539C>G (p.His847Asp)
|
|
|
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg)
|
rs1928470713
|
|
NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu)
|
rs924686008
|
|
NM_001184880.2(PCDH19):c.2578C>G (p.Gln860Glu)
|
|
|
NM_001184880.2(PCDH19):c.2580G>T (p.Gln860His)
|
rs2147532962
|
|
NM_001184880.2(PCDH19):c.25CTG[5] (p.Leu12_Ala13insLeu)
|
|
|
NM_001184880.2(PCDH19):c.2606C>T (p.Pro869Leu)
|
|
|
NM_001184880.2(PCDH19):c.2659G>A (p.Ala887Thr)
|
rs747735300
|
|
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln)
|
rs1602600456
|
|
NM_001184880.2(PCDH19):c.2675G>A (p.Ser892Asn)
|
rs1602600445
|
|
NM_001184880.2(PCDH19):c.2676-8C>A
|
rs1174620986
|
|
NM_001184880.2(PCDH19):c.2726A>G (p.His909Arg)
|
|
|
NM_001184880.2(PCDH19):c.2730G>C (p.Glu910Asp)
|
|
|
NM_001184880.2(PCDH19):c.2754G>T (p.Glu918Asp)
|
rs1926264482
|
|
NM_001184880.2(PCDH19):c.2761G>A (p.Val921Ile)
|
|
|
NM_001184880.2(PCDH19):c.2768G>A (p.Arg923Gln)
|
|
|
NM_001184880.2(PCDH19):c.2795A>G (p.Asn932Ser)
|
rs1926262402
|
|
NM_001184880.2(PCDH19):c.2825T>C (p.Met942Thr)
|
|
|
NM_001184880.2(PCDH19):c.2833C>T (p.Gln945Ter)
|
rs2147484924
|
|
NM_001184880.2(PCDH19):c.2836A>G (p.Met946Val)
|
rs1064793304
|
|
NM_001184880.2(PCDH19):c.2837T>C (p.Met946Thr)
|
|
|
NM_001184880.2(PCDH19):c.2846A>C (p.His949Pro)
|
rs1200510047
|
|
NM_001184880.2(PCDH19):c.2885G>A (p.Arg962Gln)
|
|
|
NM_001184880.2(PCDH19):c.290C>T (p.Pro97Leu)
|
|
|
NM_001184880.2(PCDH19):c.2921G>A (p.Arg974Gln)
|
|
|
NM_001184880.2(PCDH19):c.2929A>G (p.Met977Val)
|
rs2147446474
|
|
NM_001184880.2(PCDH19):c.2974G>A (p.Ala992Thr)
|
|
|
NM_001184880.2(PCDH19):c.2977del (p.Leu993fs)
|
|
|
NM_001184880.2(PCDH19):c.2983A>G (p.Ile995Val)
|
rs1413490920
|
|
NM_001184880.2(PCDH19):c.298ATC[1] (p.Ile101del)
|
rs796052825
|
|
NM_001184880.2(PCDH19):c.3002A>G (p.Asp1001Gly)
|
rs1924624840
|
|
NM_001184880.2(PCDH19):c.3002A>T (p.Asp1001Val)
|
|
|
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val)
|
rs1060502178
|
|
NM_001184880.2(PCDH19):c.3019G>A (p.Asp1007Asn)
|
|
|
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val)
|
rs779017688
|
|
NM_001184880.2(PCDH19):c.3020A>C (p.Asp1007Ala)
|
|
|
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu)
|
rs1569284419
|
|
NM_001184880.2(PCDH19):c.3025G>A (p.Gly1009Ser)
|
rs2147446230
|
|
NM_001184880.2(PCDH19):c.3028C>T (p.Pro1010Ser)
|
|
|
NM_001184880.2(PCDH19):c.3037C>T (p.Arg1013Trp)
|
rs376406896
|
|
NM_001184880.2(PCDH19):c.3046G>A (p.Ala1016Thr)
|
rs1327141854
|
|
NM_001184880.2(PCDH19):c.3046G>T (p.Ala1016Ser)
|
|
|
NM_001184880.2(PCDH19):c.3062A>G (p.Asp1021Gly)
|
|
|
NM_001184880.2(PCDH19):c.3065T>C (p.Val1022Ala)
|
|
|
NM_001184880.2(PCDH19):c.3070G>A (p.Asp1024Asn)
|
|
|
NM_001184880.2(PCDH19):c.3073C>T (p.His1025Tyr)
|
rs2147446139
|
|
NM_001184880.2(PCDH19):c.3087G>T (p.Glu1029Asp)
|
|
|
NM_001184880.2(PCDH19):c.3103G>A (p.Gly1035Ser)
|
rs2147446085
|
|
NM_001184880.2(PCDH19):c.3105C>T (p.Gly1035=)
|
|
|
NM_001184880.2(PCDH19):c.3115G>A (p.Val1039Ile)
|
rs2147446072
|
|
NM_001184880.2(PCDH19):c.3118G>A (p.Asp1040Asn)
|
|
|
NM_001184880.2(PCDH19):c.3196del (p.Thr1066fs)
|
|
|
NM_001184880.2(PCDH19):c.3200C>A (p.Ser1067Tyr)
|
|
|
NM_001184880.2(PCDH19):c.3205C>A (p.Leu1069Ile)
|
|
|
NM_001184880.2(PCDH19):c.3205C>T (p.Leu1069Phe)
|
|
|
NM_001184880.2(PCDH19):c.3205del (p.Leu1069fs)
|
|
|
NM_001184880.2(PCDH19):c.3208C>G (p.His1070Asp)
|
rs2147445892
|
|
NM_001184880.2(PCDH19):c.3221C>G (p.Ser1074Cys)
|
|
|
NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu)
|
rs774791898
|
|
NM_001184880.2(PCDH19):c.3269C>A (p.Pro1090Gln)
|
|
|
NM_001184880.2(PCDH19):c.3272C>T (p.Ala1091Val)
|
|
|
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys)
|
rs745989871
|
|
NM_001184880.2(PCDH19):c.3286C>A (p.Gln1096Lys)
|
rs2147445718
|
|
NM_001184880.2(PCDH19):c.3293TCAACAATG[1] (p.1098VNN[1])
|
|
|
NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser)
|
rs754499060
|
|
NM_001184880.2(PCDH19):c.330G>A (p.Met110Ile)
|
|
|
NM_001184880.2(PCDH19):c.3340C>A (p.Arg1114Ser)
|
rs763455091
|
|
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro)
|
rs770137596
|
|
NM_001184880.2(PCDH19):c.3344G>T (p.Gly1115Val)
|
rs2147445596
|
|
NM_001184880.2(PCDH19):c.3353G>T (p.Ser1118Ile)
|
|
|
NM_001184880.2(PCDH19):c.3354_3355insT (p.Glu1119Ter)
|
rs2147445563
|
|
NM_001184880.2(PCDH19):c.3356A>T (p.Glu1119Val)
|
|
|
NM_001184880.2(PCDH19):c.335T>G (p.Ile112Ser)
|
rs2147542128
|
|
NM_001184880.2(PCDH19):c.3361G>C (p.Val1121Leu)
|
rs1924601817
|
|
NM_001184880.2(PCDH19):c.3364A>C (p.Met1122Leu)
|
|
|
NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln)
|
rs1569284025
|
|
NM_001184880.2(PCDH19):c.3384T>G (p.Ile1128Met)
|
rs1924600376
|
|
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs)
|
rs999749949
|
|
NM_001184880.2(PCDH19):c.3416G>A (p.Gly1139Asp)
|
|
|
NM_001184880.2(PCDH19):c.3421A>G (p.Lys1141Glu)
|
rs1456843420
|
|
NM_001184880.2(PCDH19):c.3422A>G (p.Lys1141Arg)
|
|
|
NM_001184880.2(PCDH19):c.3431_3436dup (p.Lys1144_Asp1145dup)
|
rs1924597346
|
|
NM_001184880.2(PCDH19):c.3436_3437dup (p.Val1147fs)
|
rs1924597176
|
|
NM_001184880.2(PCDH19):c.3438del (p.Ile1146fs)
|
rs764067138
|
|
NM_001184880.2(PCDH19):c.3439G>C (p.Val1147Leu)
|
rs138771033
|
|
NM_001184880.2(PCDH19):c.344T>A (p.Ile115Lys)
|
rs1928464417
|
|
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn)
|
rs1214373921
|
|
NM_001184880.2(PCDH19):c.360G>T (p.Lys120Asn)
|
|
|
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser)
|
rs1928462873
|
|
NM_001184880.2(PCDH19):c.37G>A (p.Ala13Thr)
|
|
|
NM_001184880.2(PCDH19):c.380C>T (p.Pro127Leu)
|
rs2147542030
|
|
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser)
|
rs1602638047
|
|
NM_001184880.2(PCDH19):c.402C>G (p.Ile134Met)
|
|
|
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn)
|
rs1602637994
|
|
NM_001184880.2(PCDH19):c.418G>C (p.Glu140Gln)
|
|
|
NM_001184880.2(PCDH19):c.419A>G (p.Glu140Gly)
|
rs1928460473
|
|
NM_001184880.2(PCDH19):c.437C>A (p.Thr146Lys)
|
rs796052799
|
|
NM_001184880.2(PCDH19):c.439C>T (p.Arg147Cys)
|
|
|
NM_001184880.2(PCDH19):c.43C>A (p.Leu15Met)
|
|
|
NM_001184880.2(PCDH19):c.444C>G (p.Ile148Met)
|
rs770381945
|
|
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile)
|
rs863224907
|
|
NM_001184880.2(PCDH19):c.475G>A (p.Gly159Arg)
|
rs2147541809
|
|
NM_001184880.2(PCDH19):c.487G>A (p.Val163Met)
|
|
|
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del)
|
rs1928454411
|
|
NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp)
|
|
|
NM_001184880.2(PCDH19):c.529G>C (p.Glu177Gln)
|
|
|
NM_001184880.2(PCDH19):c.534C>G (p.Ile178Met)
|
|
|
NM_001184880.2(PCDH19):c.539C>A (p.Thr180Lys)
|
rs796052803
|
|
NM_001184880.2(PCDH19):c.554C>T (p.Ser185Phe)
|
|
|
NM_001184880.2(PCDH19):c.569T>C (p.Leu190Pro)
|
rs2147541432
|
|
NM_001184880.2(PCDH19):c.56C>T (p.Ala19Val)
|
rs1928482665
|
|
NM_001184880.2(PCDH19):c.571G>A (p.Val191Met)
|
rs753757730
|
|
NM_001184880.2(PCDH19):c.574G>A (p.Val192Met)
|
|
|
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro)
|
rs1413763025
|
|
NM_001184880.2(PCDH19):c.591C>G (p.Asp197Glu)
|
rs374554305
|
|
NM_001184880.2(PCDH19):c.599C>T (p.Thr200Met)
|
|
|
NM_001184880.2(PCDH19):c.601C>A (p.Gln201Lys)
|
rs2147541289
|
|
NM_001184880.2(PCDH19):c.609C>G (p.His203Gln)
|
|
|
NM_001184880.2(PCDH19):c.615C>G (p.Ser205Arg)
|
|
|
NM_001184880.2(PCDH19):c.617T>A (p.Phe206Tyr)
|
|
|
NM_001184880.2(PCDH19):c.623T>A (p.Ile208Asn)
|
rs796052804
|
|
NM_001184880.2(PCDH19):c.623_624delinsAA (p.Ile208Lys)
|
rs2147541189
|
|
NM_001184880.2(PCDH19):c.638G>T (p.Gly213Val)
|
rs1928443396
|
|
NM_001184880.2(PCDH19):c.644A>T (p.Asp215Val)
|
rs935781189
|
|
NM_001184880.2(PCDH19):c.653G>C (p.Arg218Pro)
|
rs1210258504
|
|
NM_001184880.2(PCDH19):c.667G>C (p.Gly223Arg)
|
|
|
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala)
|
rs1555985491
|
|
NM_001184880.2(PCDH19):c.700AAC[1] (p.Asn235del)
|
rs1928438102
|
|
NM_001184880.2(PCDH19):c.703A>T (p.Asn235Tyr)
|
|
|
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser)
|
rs1602637358
|
|
NM_001184880.2(PCDH19):c.730G>A (p.Ala244Thr)
|
|
|
NM_001184880.2(PCDH19):c.754C>T (p.Pro252Ser)
|
|
|
NM_001184880.2(PCDH19):c.758C>A (p.Pro253His)
|
|
|
NM_001184880.2(PCDH19):c.762C>A (p.Asn254Lys)
|
|
|
NM_001184880.2(PCDH19):c.784G>T (p.Ala262Ser)
|
|
|
NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg)
|
|
|
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu)
|
rs373181586
|
|
NM_001184880.2(PCDH19):c.793C>T (p.Pro265Ser)
|
|
|
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)
|
rs1057524751
|
|
NM_001184880.2(PCDH19):c.79T>A (p.Tyr27Asn)
|
rs1928481376
|
|
NM_001184880.2(PCDH19):c.800_802del (p.Glu267del)
|
|
|
NM_001184880.2(PCDH19):c.811G>A (p.Gly271Ser)
|
rs1928427097
|
|
NM_001184880.2(PCDH19):c.812G>T (p.Gly271Val)
|
rs2147540502
|
|
NM_001184880.2(PCDH19):c.824A>G (p.Tyr275Cys)
|
rs1928426496
|
|
NM_001184880.2(PCDH19):c.82T>G (p.Ser28Ala)
|
|
|
NM_001184880.2(PCDH19):c.830_832del (p.Phe277del)
|
|
|
NM_001184880.2(PCDH19):c.844A>G (p.Asn282Asp)
|
|
|
NM_001184880.2(PCDH19):c.854C>A (p.Thr285Lys)
|
|
|
NM_001184880.2(PCDH19):c.854C>T (p.Thr285Met)
|
|
|
NM_001184880.2(PCDH19):c.870G>T (p.Gln290His)
|
|
|
NM_001184880.2(PCDH19):c.88G>A (p.Glu30Lys)
|
rs931969825
|
|
NM_001184880.2(PCDH19):c.899T>C (p.Val300Ala)
|
rs1555985398
|
|
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile)
|
rs1928420254
|
|
NM_001184880.2(PCDH19):c.940C>A (p.Leu314Met)
|
|
|
NM_001184880.2(PCDH19):c.958G>A (p.Asp320Asn)
|
|
|
NM_001184880.2(PCDH19):c.958G>C (p.Asp320His)
|
rs1928416953
|
|
NM_001184880.2(PCDH19):c.959A>G (p.Asp320Gly)
|
|
|
NM_001184880.2(PCDH19):c.979C>T (p.Pro327Ser)
|
rs1928416253
|
|
NM_001184880.2(PCDH19):c.994G>A (p.Val332Ile)
|
|
|
NM_001353921.2(ARHGEF9):c.1009C>G (p.Gln337Glu)
|
|
|
NM_001353921.2(ARHGEF9):c.1022G>T (p.Arg341Leu)
|
|
|
NM_001353921.2(ARHGEF9):c.1025A>G (p.Asn342Ser)
|
|
|
NM_001353921.2(ARHGEF9):c.1049T>G (p.Phe350Cys)
|
rs2147265726
|
|
NM_001353921.2(ARHGEF9):c.1077+5C>T
|
rs2049507995
|
|
NM_001353921.2(ARHGEF9):c.1078-11_1078-8del
|
|
|
NM_001353921.2(ARHGEF9):c.1126_1128dup (p.Asp376dup)
|
rs2048830256
|
|
NM_001353921.2(ARHGEF9):c.1149T>G (p.Ile383Met)
|
|
|
NM_001353921.2(ARHGEF9):c.1157G>A (p.Gly386Asp)
|
|
|
NM_001353921.2(ARHGEF9):c.1180A>C (p.Ser394Arg)
|
rs2048827604
|
|
NM_001353921.2(ARHGEF9):c.1193C>T (p.Ala398Val)
|
rs2048826532
|
|
NM_001353921.2(ARHGEF9):c.1208A>G (p.Asn403Ser)
|
rs2147218280
|
|
NM_001353921.2(ARHGEF9):c.1209C>G (p.Asn403Lys)
|
|
|
NM_001353921.2(ARHGEF9):c.121G>A (p.Val41Ile)
|
|
|
NM_001353921.2(ARHGEF9):c.1248G>T (p.Lys416Asn)
|
rs2048824581
|
|
NM_001353921.2(ARHGEF9):c.124A>G (p.Ile42Val)
|
rs2053845797
|
|
NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu)
|
rs1569441733
|
|
NM_001353921.2(ARHGEF9):c.1300G>T (p.Val434Leu)
|
|
|
NM_001353921.2(ARHGEF9):c.1321+5G>T
|
|
|
NM_001353921.2(ARHGEF9):c.1322G>T (p.Gly441Val)
|
rs2147143865
|
|
NM_001353921.2(ARHGEF9):c.1326T>A (p.Phe442Leu)
|
rs2147143845
|
|
NM_001353921.2(ARHGEF9):c.1354G>C (p.Ala452Pro)
|
|
|
NM_001353921.2(ARHGEF9):c.1362G>T (p.Met454Ile)
|
|
|
NM_001353921.2(ARHGEF9):c.1378C>T (p.Pro460Ser)
|
|
|
NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=)
|
rs1602179094
|
|
NM_001353921.2(ARHGEF9):c.1397A>G (p.Asn466Ser)
|
rs2147114917
|
|
NM_001353921.2(ARHGEF9):c.13A>G (p.Arg5Gly)
|
|
|
NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys)
|
rs1556301404
|
|
NM_001353921.2(ARHGEF9):c.1406G>A (p.Arg469His)
|
|
|
NM_001353921.2(ARHGEF9):c.1417C>T (p.Pro473Ser)
|
rs2147114796
|
|
NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro)
|
rs1556301359
|
|
NM_001353921.2(ARHGEF9):c.1435C>T (p.Gln479Ter)
|
|
|
NM_001353921.2(ARHGEF9):c.1442C>T (p.Pro481Leu)
|
|
|
NM_001353921.2(ARHGEF9):c.1448A>G (p.Asn483Ser)
|
rs2147114604
|
|
NM_001353921.2(ARHGEF9):c.1453G>A (p.Gly485Ser)
|
|
|
NM_001353921.2(ARHGEF9):c.145A>G (p.Asn49Asp)
|
rs2053844904
|
|
NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu)
|
rs2147114173
|
|
NM_001353921.2(ARHGEF9):c.1500G>T (p.Glu500Asp)
|
rs2147114132
|
|
NM_001353921.2(ARHGEF9):c.1517G>A (p.Arg506His)
|
|
|
NM_001353921.2(ARHGEF9):c.1533C>G (p.Phe511Leu)
|
rs1556300785
|
|
NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter)
|
rs1556300769
|
|
NM_001353921.2(ARHGEF9):c.1540A>C (p.Asn514His)
|
rs1556300759
|
|
NM_001353921.2(ARHGEF9):c.1561T>C (p.Phe521Leu)
|
rs2047401810
|
|
NM_001353921.2(ARHGEF9):c.172G>A (p.Asp58Asn)
|
|
|
NM_001353921.2(ARHGEF9):c.172G>C (p.Asp58His)
|
rs374489713
|
|
NM_001353921.2(ARHGEF9):c.1A>G (p.Met1Val)
|
rs2147835608
|
|
NM_001353921.2(ARHGEF9):c.227A>G (p.Glu76Gly)
|
|
|
NM_001353921.2(ARHGEF9):c.240G>T (p.Glu80Asp)
|
|
|
NM_001353921.2(ARHGEF9):c.248C>A (p.Pro83His)
|
|
|
NM_001353921.2(ARHGEF9):c.256G>A (p.Val86Met)
|
|
|
NM_001353921.2(ARHGEF9):c.256G>T (p.Val86Leu)
|
|
|
NM_001353921.2(ARHGEF9):c.25G>C (p.Gly9Arg)
|
|
|
NM_001353921.2(ARHGEF9):c.270C>A (p.His90Gln)
|
|
|
NM_001353921.2(ARHGEF9):c.271C>A (p.Leu91Met)
|
|
|
NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser)
|
rs886044863
|
|
NM_001353921.2(ARHGEF9):c.296G>C (p.Cys99Ser)
|
|
|
NM_001353921.2(ARHGEF9):c.30+16C>T
|
|
|
NM_001353921.2(ARHGEF9):c.304C>T (p.Arg102Trp)
|
|
|
NM_001353921.2(ARHGEF9):c.308C>A (p.Pro103Gln)
|
|
|
NM_001353921.2(ARHGEF9):c.31-29588A>G
|
rs2055839126
|
|
NM_001353921.2(ARHGEF9):c.31-29588_31-29587del
|
rs782126971
|
|
NM_001353921.2(ARHGEF9):c.313C>G (p.Gln105Glu)
|
rs2052542875
|
|
NM_001353921.2(ARHGEF9):c.31C>A (p.Leu11Met)
|
rs2053850779
|
|
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
|
|
|
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His)
|
rs868956996
|
|
NM_001353921.2(ARHGEF9):c.403-3C>T
|
rs1602447219
|
|
NM_001353921.2(ARHGEF9):c.422G>A (p.Arg141Gln)
|
|
|
NM_001353921.2(ARHGEF9):c.438G>A (p.Met146Ile)
|
|
|
NM_001353921.2(ARHGEF9):c.443G>A (p.Ser148Asn)
|
|
|
NM_001353921.2(ARHGEF9):c.476T>C (p.Ile159Thr)
|
|
|
NM_001353921.2(ARHGEF9):c.488A>T (p.Tyr163Phe)
|
rs2051815541
|
|
NM_001353921.2(ARHGEF9):c.499A>G (p.Met167Val)
|
rs2147450532
|
|
NM_001353921.2(ARHGEF9):c.544C>T (p.Pro182Ser)
|
rs2051812917
|
|
NM_001353921.2(ARHGEF9):c.569G>A (p.Cys190Tyr)
|
|
|
NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly)
|
rs1556388997
|
|
NM_001353921.2(ARHGEF9):c.632C>T (p.Ala211Val)
|
rs2147334711
|
|
NM_001353921.2(ARHGEF9):c.643C>T (p.Leu215Phe)
|
|
|
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val)
|
rs2050412325
|
|
NM_001353921.2(ARHGEF9):c.66A>G (p.Ala22=)
|
rs2147624503
|
|
NM_001353921.2(ARHGEF9):c.688G>A (p.Ala230Thr)
|
|
|
NM_001353921.2(ARHGEF9):c.694C>T (p.Arg232Cys)
|
rs2147334395
|
|
NM_001353921.2(ARHGEF9):c.703C>G (p.Gln235Glu)
|
rs2050408893
|
|
NM_001353921.2(ARHGEF9):c.727G>T (p.Asp243Tyr)
|
rs782266558
|
|
NM_001353921.2(ARHGEF9):c.761G>A (p.Cys254Tyr)
|
|
|
NM_001353921.2(ARHGEF9):c.766T>C (p.Tyr256His)
|
|
|
NM_001353921.2(ARHGEF9):c.775C>G (p.Gln259Glu)
|
|
|
NM_001353921.2(ARHGEF9):c.788T>C (p.Leu263Pro)
|
rs1602360899
|
|
NM_001353921.2(ARHGEF9):c.79G>A (p.Val27Ile)
|
|
|
NM_001353921.2(ARHGEF9):c.811C>T (p.His271Tyr)
|
rs2050403490
|
|
NM_001353921.2(ARHGEF9):c.815+5G>C
|
rs56239759
|
|
NM_001353921.2(ARHGEF9):c.815+5G>T
|
rs56239759
|
|
NM_001353921.2(ARHGEF9):c.880C>T (p.Arg294Cys)
|
|
|
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys)
|
rs2050115619
|
|
NM_001353921.2(ARHGEF9):c.91A>G (p.Asn31Asp)
|
|
|
NM_001353921.2(ARHGEF9):c.924G>C (p.Gln308His)
|
|
|
NM_001353921.2(ARHGEF9):c.944A>C (p.Glu315Ala)
|
rs2147307964
|
|
NM_001353921.2(ARHGEF9):c.945+5G>A
|
|
|
NM_001353921.2(ARHGEF9):c.94C>G (p.Arg32Gly)
|
|
|
NM_001353921.2(ARHGEF9):c.961G>C (p.Asp321His)
|
|
|
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile)
|
rs1569451962
|
|
NM_003588.4(CUL4B):c.46G>C (p.Ala16Pro)
|
|
|
NM_003588.4(CUL4B):c.5T>C (p.Met2Thr)
|
|
|
NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro)
|
rs2067699414
|
|
NM_004586.3(RPS6KA3):c.1151G>T (p.Gly384Val)
|
rs2067670297
|
|
NM_004586.3(RPS6KA3):c.124A>G (p.Thr42Ala)
|
|
|
NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp)
|
rs2067605278
|
|
NM_004586.3(RPS6KA3):c.1291G>T (p.Gly431Cys)
|
|
|
NM_004586.3(RPS6KA3):c.1336A>G (p.Met446Val)
|
|
|
NM_004586.3(RPS6KA3):c.1353+6T>A
|
|
|
NM_004586.3(RPS6KA3):c.1402C>G (p.Leu468Val)
|
|
|
NM_004586.3(RPS6KA3):c.1762G>A (p.Glu588Lys)
|
|
|
NM_004586.3(RPS6KA3):c.1858A>G (p.Asn620Asp)
|
rs2148635858
|
|
NM_004586.3(RPS6KA3):c.1952C>T (p.Thr651Ile)
|
|
|
NM_004586.3(RPS6KA3):c.2000G>A (p.Arg667Lys)
|
|
|
NM_004586.3(RPS6KA3):c.2095G>A (p.Val699Ile)
|
|
|
NM_004586.3(RPS6KA3):c.2100+5G>A
|
|
|
NM_004586.3(RPS6KA3):c.243+6T>G
|
|
|
NM_004586.3(RPS6KA3):c.295A>G (p.Met99Val)
|
rs1569232184
|
|
NM_004586.3(RPS6KA3):c.300G>T (p.Lys100Asn)
|
|
|
NM_004586.3(RPS6KA3):c.325+6T>A
|
|
|
NM_004586.3(RPS6KA3):c.341G>A (p.Arg114Gln)
|
|
|
NM_004586.3(RPS6KA3):c.62G>T (p.Ser21Ile)
|
rs996264009
|
|
NM_004586.3(RPS6KA3):c.707C>T (p.Ala236Val)
|
rs1569216043
|
|
NM_004586.3(RPS6KA3):c.754T>C (p.Trp252Arg)
|
rs1569215936
|
|
NM_004586.3(RPS6KA3):c.772A>G (p.Met258Val)
|
rs2148686350
|
|
NM_004586.3(RPS6KA3):c.846A>C (p.Lys282Asn)
|
|
|
NM_004586.3(RPS6KA3):c.999+2dup
|
rs2067702056
|
|
NM_005120.2(MED12):c.6273_6278dup
|
rs748394417
|
|
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln)
|
rs748394417
|
|
NM_005120.2(MED12):c.6300_6329del
|
rs773480549
|
|
NM_005120.3(MED12):c.100-10C>G
|
|
|
NM_005120.3(MED12):c.100-11T>G
|
|
|
NM_005120.3(MED12):c.100-15G>T
|
|
|
NM_005120.3(MED12):c.100-15_100-14delinsTT
|
|
|
NM_005120.3(MED12):c.1009C>T (p.Pro337Ser)
|
|
|
NM_005120.3(MED12):c.1012A>G (p.Thr338Ala)
|
|
|
NM_005120.3(MED12):c.1013C>T (p.Thr338Ile)
|
|
|
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro)
|
rs1556334571
|
|
NM_005120.3(MED12):c.1060C>A (p.Gln354Lys)
|
|
|
NM_005120.3(MED12):c.106C>A (p.Leu36Met)
|
rs2147769903
|
|
NM_005120.3(MED12):c.1091G>A (p.Cys364Tyr)
|
rs2147780559
|
|
NM_005120.3(MED12):c.1101+3A>G
|
|
|
NM_005120.3(MED12):c.1103C>T (p.Thr368Ile)
|
|
|
NM_005120.3(MED12):c.1131G>A (p.Leu377=)
|
rs755897379
|
|
NM_005120.3(MED12):c.1234G>A (p.Ala412Thr)
|
|
|
NM_005120.3(MED12):c.1240A>G (p.Thr414Ala)
|
|
|
NM_005120.3(MED12):c.1249G>A (p.Val417Ile)
|
rs2147783166
|
|
NM_005120.3(MED12):c.1252C>T (p.Arg418Cys)
|
rs2147783217
|
|
NM_005120.3(MED12):c.1277A>C (p.Gln426Pro)
|
|
|
NM_005120.3(MED12):c.1300G>C (p.Ala434Pro)
|
|
|
NM_005120.3(MED12):c.1312C>T (p.Arg438Cys)
|
|
|
NM_005120.3(MED12):c.1328A>G (p.Lys443Arg)
|
rs2092292301
|
|
NM_005120.3(MED12):c.133_138del (p.Phe45_Asn46del)
|
|
|
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)
|
rs2092292878
|
|
NM_005120.3(MED12):c.137A>C (p.Asn46Thr)
|
|
|
NM_005120.3(MED12):c.1409G>A (p.Arg470His)
|
|
|
NM_005120.3(MED12):c.1432G>A (p.Asp478Asn)
|
rs2092293014
|
|
NM_005120.3(MED12):c.1434C>G (p.Asp478Glu)
|
|
|
NM_005120.3(MED12):c.1438C>G (p.Leu480Val)
|
|
|
NM_005120.3(MED12):c.1448G>A (p.Arg483Gln)
|
|
|
NM_005120.3(MED12):c.1565C>G (p.Ala522Gly)
|
rs1289442309
|
|
NM_005120.3(MED12):c.1612G>T (p.Ala538Ser)
|
|
|
NM_005120.3(MED12):c.1622G>A (p.Cys541Tyr)
|
|
|
NM_005120.3(MED12):c.1633G>C (p.Glu545Gln)
|
rs2147787733
|
|
NM_005120.3(MED12):c.1636G>C (p.Ala546Pro)
|
|
|
NM_005120.3(MED12):c.1639G>T (p.Ala547Ser)
|
|
|
NM_005120.3(MED12):c.1640C>T (p.Ala547Val)
|
|
|
NM_005120.3(MED12):c.1660G>A (p.Ala554Thr)
|
rs863223709
|
|
NM_005120.3(MED12):c.1666G>A (p.Gly556Ser)
|
rs2092295382
|
|
NM_005120.3(MED12):c.1704T>A (p.Asp568Glu)
|
|
|
NM_005120.3(MED12):c.1744+5G>A
|
rs368353373
|
|
NM_005120.3(MED12):c.1744+6G>A
|
|
|
NM_005120.3(MED12):c.1767G>C (p.Glu589Asp)
|
rs2147789356
|
|
NM_005120.3(MED12):c.1769G>A (p.Arg590Gln)
|
|
|
NM_005120.3(MED12):c.1769G>T (p.Arg590Leu)
|
|
|
NM_005120.3(MED12):c.1801T>G (p.Cys601Gly)
|
|
|
NM_005120.3(MED12):c.1821T>A (p.Asp607Glu)
|
rs375897167
|
|
NM_005120.3(MED12):c.1839G>A (p.Met613Ile)
|
|
|
NM_005120.3(MED12):c.1843A>G (p.Thr615Ala)
|
|
|
NM_005120.3(MED12):c.184G>A (p.Val62Ile)
|
rs1039763693
|
|
NM_005120.3(MED12):c.1889G>T (p.Gly630Val)
|
|
|
NM_005120.3(MED12):c.1913A>G (p.Asp638Gly)
|
|
|
NM_005120.3(MED12):c.1918C>A (p.Pro640Thr)
|
|
|
NM_005120.3(MED12):c.1922C>T (p.Ala641Val)
|
|
|
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn)
|
rs1556335288
|
|
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr)
|
rs950787066
|
|
NM_005120.3(MED12):c.1945G>C (p.Ala649Pro)
|
|
|
NM_005120.3(MED12):c.1952GCA[4] (p.Ser655del)
|
|
|
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly)
|
rs1569481250
|
|
NM_005120.3(MED12):c.1965C>G (p.Ser655Arg)
|
|
|
NM_005120.3(MED12):c.1970T>C (p.Leu657Pro)
|
rs2147790051
|
|
NM_005120.3(MED12):c.1975-16T>C
|
|
|
NM_005120.3(MED12):c.1975-9T>C
|
|
|
NM_005120.3(MED12):c.2009C>A (p.Pro670His)
|
|
|
NM_005120.3(MED12):c.2035A>G (p.Met679Val)
|
|
|
NM_005120.3(MED12):c.205-11T>G
|
|
|
NM_005120.3(MED12):c.205-3C>T
|
|
|
NM_005120.3(MED12):c.2068A>G (p.Thr690Ala)
|
rs878854752
|
|
NM_005120.3(MED12):c.2082G>A (p.Glu694=)
|
|
|
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn)
|
rs863223710
|
|
NM_005120.3(MED12):c.2146G>C (p.Glu716Gln)
|
|
|
NM_005120.3(MED12):c.216C>T (p.Asn72=)
|
|
|
NM_005120.3(MED12):c.2194G>T (p.Val732Leu)
|
|
|
NM_005120.3(MED12):c.2199G>A (p.Gln733=)
|
|
|
NM_005120.3(MED12):c.2263G>A (p.Val755Ile)
|
|
|
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)
|
|
|
NM_005120.3(MED12):c.2281G>A (p.Gly761Arg)
|
|
|
NM_005120.3(MED12):c.2296G>T (p.Asp766Tyr)
|
rs2147792986
|
|
NM_005120.3(MED12):c.2302C>T (p.Arg768Cys)
|
|
|
NM_005120.3(MED12):c.2303G>A (p.Arg768His)
|
|
|
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys)
|
rs2147793341
|
|
NM_005120.3(MED12):c.2360C>G (p.Thr787Arg)
|
|
|
NM_005120.3(MED12):c.2363C>G (p.Ala788Gly)
|
|
|
NM_005120.3(MED12):c.2371+4G>C
|
|
|
NM_005120.3(MED12):c.2372-15T>A
|
|
|
NM_005120.3(MED12):c.2372-17_2372-6del
|
|
|
NM_005120.3(MED12):c.2380G>A (p.Ala794Thr)
|
|
|
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser)
|
rs1602297729
|
|
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu)
|
rs2092301217
|
|
NM_005120.3(MED12):c.2411T>G (p.Leu804Arg)
|
|
|
NM_005120.3(MED12):c.2422+11G>A
|
|
|
NM_005120.3(MED12):c.2422+6T>G
|
rs1569481413
|
|
NM_005120.3(MED12):c.244C>G (p.Arg82Gly)
|
|
|
NM_005120.3(MED12):c.2456G>A (p.Arg819Gln)
|
rs1192740859
|
|
NM_005120.3(MED12):c.245G>A (p.Arg82His)
|
|
|
NM_005120.3(MED12):c.2467T>G (p.Phe823Val)
|
|
|
NM_005120.3(MED12):c.2470C>T (p.Pro824Ser)
|
|
|
NM_005120.3(MED12):c.2529G>C (p.Gln843His)
|
rs2147795833
|
|
NM_005120.3(MED12):c.2532C>G (p.Val844=)
|
|
|
NM_005120.3(MED12):c.2534C>T (p.Thr845Met)
|
|
|
NM_005120.3(MED12):c.2542-4T>G
|
rs2147796325
|
|
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln)
|
rs2092303365
|
|
NM_005120.3(MED12):c.2559G>A (p.Leu853=)
|
rs2147796383
|
|
NM_005120.3(MED12):c.2570C>T (p.Thr857Met)
|
|
|
NM_005120.3(MED12):c.2574C>G (p.Ser858Arg)
|
|
|
NM_005120.3(MED12):c.2631C>G (p.Phe877Leu)
|
|
|
NM_005120.3(MED12):c.267T>C (p.Thr89=)
|
|
|
NM_005120.3(MED12):c.2685+6G>A
|
rs2147796689
|
|
NM_005120.3(MED12):c.272G>A (p.Arg91His)
|
rs1057524478
|
|
NM_005120.3(MED12):c.272G>T (p.Arg91Leu)
|
rs1057524478
|
|
NM_005120.3(MED12):c.2759C>T (p.Thr920Ile)
|
|
|
NM_005120.3(MED12):c.281C>T (p.Pro94Leu)
|
rs1602293842
|
|
NM_005120.3(MED12):c.2850G>T (p.Gly950=)
|
|
|
NM_005120.3(MED12):c.2860G>A (p.Val954Ile)
|
|
|
NM_005120.3(MED12):c.2894C>T (p.Ser965Phe)
|
rs2147799414
|
|
NM_005120.3(MED12):c.2899G>A (p.Ala967Thr)
|
|
|
NM_005120.3(MED12):c.2905C>T (p.Arg969Cys)
|
|
|
NM_005120.3(MED12):c.2982-14C>T
|
|
|
NM_005120.3(MED12):c.2992T>C (p.Ser998Pro)
|
|
|
NM_005120.3(MED12):c.299A>T (p.Asp100Val)
|
|
|
NM_005120.3(MED12):c.3008C>T (p.Thr1003Ile)
|
|
|
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)
|
rs879255526
|
|
NM_005120.3(MED12):c.3069C>G (p.Ile1023Met)
|
rs753751305
|
|
NM_005120.3(MED12):c.3109A>G (p.Thr1037Ala)
|
rs2147800946
|
|
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn)
|
rs1556336419
|
|
NM_005120.3(MED12):c.3163T>A (p.Cys1055Ser)
|
rs2147801044
|
|
NM_005120.3(MED12):c.3209+4T>C
|
|
|
NM_005120.3(MED12):c.3209+6G>A
|
|
|
NM_005120.3(MED12):c.3209+7G>T
|
rs2147801168
|
|
NM_005120.3(MED12):c.320C>T (p.Ala107Val)
|
rs2092284960
|
|
NM_005120.3(MED12):c.3220A>G (p.Ile1074Val)
|
rs2092308336
|
|
NM_005120.3(MED12):c.3222C>G (p.Ile1074Met)
|
|
|
NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu)
|
|
|
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala)
|
rs2147802401
|
|
NM_005120.3(MED12):c.3296T>C (p.Leu1099Ser)
|
|
|
NM_005120.3(MED12):c.3354+6A>C
|
|
|
NM_005120.3(MED12):c.33C>A (p.His11Gln)
|
|
|
NM_005120.3(MED12):c.3430G>A (p.Glu1144Lys)
|
|
|
NM_005120.3(MED12):c.3508C>T (p.Arg1170Trp)
|
rs1389138246
|
|
NM_005120.3(MED12):c.3509G>A (p.Arg1170Gln)
|
rs2147804813
|
|
NM_005120.3(MED12):c.3558T>A (p.Asn1186Lys)
|
|
|
NM_005120.3(MED12):c.3566A>G (p.Gln1189Arg)
|
rs2147804938
|
|
NM_005120.3(MED12):c.357C>G (p.Asp119Glu)
|
|
|
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys)
|
rs1556336812
|
|
NM_005120.3(MED12):c.3598C>T (p.Arg1200Cys)
|
|
|
NM_005120.3(MED12):c.3605C>A (p.Ser1202Tyr)
|
|
|
NM_005120.3(MED12):c.3605C>G (p.Ser1202Cys)
|
|
|
NM_005120.3(MED12):c.3619C>G (p.Leu1207Val)
|
rs2092311035
|
|
NM_005120.3(MED12):c.361G>T (p.Ala121Ser)
|
|
|
NM_005120.3(MED12):c.3622C>G (p.Leu1208Val)
|
|
|
NM_005120.3(MED12):c.3641G>A (p.Arg1214His)
|
rs2092311084
|
|
NM_005120.3(MED12):c.3691+9G>A
|
|
|
NM_005120.3(MED12):c.3728C>T (p.Thr1243Ile)
|
|
|
NM_005120.3(MED12):c.3731G>A (p.Gly1244Glu)
|
|
|
NM_005120.3(MED12):c.3743A>T (p.Glu1248Val)
|
|
|
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg)
|
rs1459632977
|
|
NM_005120.3(MED12):c.3762AGG[1] (p.Gly1257del)
|
rs1602300077
|
|
NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser)
|
rs776373565
|
|
NM_005120.3(MED12):c.3779G>T (p.Gly1260Val)
|
rs2147807429
|
|
NM_005120.3(MED12):c.3781C>T (p.Arg1261Trp)
|
|
|
NM_005120.3(MED12):c.37C>T (p.Pro13Ser)
|
|
|
NM_005120.3(MED12):c.3813G>T (p.Glu1271Asp)
|
|
|
NM_005120.3(MED12):c.3820A>G (p.Ser1274Gly)
|
rs2147807641
|
|
NM_005120.3(MED12):c.3868-11A>G
|
|
|
NM_005120.3(MED12):c.3919C>G (p.Leu1307Val)
|
|
|
NM_005120.3(MED12):c.3943G>A (p.Ala1315Thr)
|
|
|
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)
|
rs2092313149
|
|
NM_005120.3(MED12):c.3955C>T (p.Arg1319Cys)
|
rs901783069
|
|
NM_005120.3(MED12):c.3956G>A (p.Arg1319His)
|
rs1421325265
|
|
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg)
|
rs797045699
|
|
NM_005120.3(MED12):c.3998A>G (p.Asn1333Ser)
|
|
|
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp)
|
rs2147808786
|
|
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
|
|
|
NM_005120.3(MED12):c.4036C>T (p.Arg1346Cys)
|
|
|
NM_005120.3(MED12):c.4048-3C>T
|
|
|
NM_005120.3(MED12):c.4048A>G (p.Asn1350Asp)
|
|
|
NM_005120.3(MED12):c.4076C>A (p.Ser1359Tyr)
|
|
|
NM_005120.3(MED12):c.4084G>C (p.Glu1362Gln)
|
|
|
NM_005120.3(MED12):c.4123A>G (p.Met1375Val)
|
|
|
NM_005120.3(MED12):c.4187C>T (p.Thr1396Ile)
|
|
|
NM_005120.3(MED12):c.4196C>A (p.Ser1399Tyr)
|
|
|
NM_005120.3(MED12):c.4199C>T (p.Ser1400Phe)
|
|
|
NM_005120.3(MED12):c.4208C>A (p.Thr1403Asn)
|
rs2147813483
|
|
NM_005120.3(MED12):c.4210G>A (p.Ala1404Thr)
|
rs2147813494
|
|
NM_005120.3(MED12):c.4220T>G (p.Met1407Arg)
|
rs2092319173
|
|
NM_005120.3(MED12):c.4223C>T (p.Pro1408Leu)
|
|
|
NM_005120.3(MED12):c.4255T>C (p.Ser1419Pro)
|
rs2147814288
|
|
NM_005120.3(MED12):c.4325A>G (p.His1442Arg)
|
|
|
NM_005120.3(MED12):c.4328T>G (p.Val1443Gly)
|
|
|
NM_005120.3(MED12):c.4337C>T (p.Ala1446Val)
|
|
|
NM_005120.3(MED12):c.4343G>A (p.Gly1448Glu)
|
rs2147814559
|
|
NM_005120.3(MED12):c.434A>G (p.Tyr145Cys)
|
|
|
NM_005120.3(MED12):c.4369C>G (p.Leu1457Val)
|
|
|
NM_005120.3(MED12):c.4418T>C (p.Met1473Thr)
|
|
|
NM_005120.3(MED12):c.4486C>T (p.Arg1496Cys)
|
rs759105512
|
|
NM_005120.3(MED12):c.4489G>A (p.Glu1497Lys)
|
rs868164882
|
|
NM_005120.3(MED12):c.4535A>G (p.Asn1512Ser)
|
|
|
NM_005120.3(MED12):c.454C>T (p.Pro152Ser)
|
rs2147774389
|
|
NM_005120.3(MED12):c.4606C>T (p.Arg1536Trp)
|
rs2092323072
|
|
NM_005120.3(MED12):c.4638G>A (p.Thr1546=)
|
rs980389482
|
|
NM_005120.3(MED12):c.4639G>C (p.Val1547Leu)
|
|
|
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala)
|
rs1375497967
|
|
NM_005120.3(MED12):c.4652C>T (p.Thr1551Ile)
|
|
|
NM_005120.3(MED12):c.466G>A (p.Ala156Thr)
|
rs2147774436
|
|
NM_005120.3(MED12):c.4720T>G (p.Ser1574Ala)
|
|
|
NM_005120.3(MED12):c.4728T>C (p.Asn1576=)
|
|
|
NM_005120.3(MED12):c.4762G>A (p.Val1588Met)
|
|
|
NM_005120.3(MED12):c.4762G>T (p.Val1588Leu)
|
rs767396596
|
|
NM_005120.3(MED12):c.4772A>G (p.Asn1591Ser)
|
rs2147822394
|
|
NM_005120.3(MED12):c.478A>G (p.Ile160Val)
|
|
|
NM_005120.3(MED12):c.4816A>G (p.Met1606Val)
|
|
|
NM_005120.3(MED12):c.4829A>G (p.Lys1610Arg)
|
|
|
NM_005120.3(MED12):c.4891A>G (p.Ser1631Gly)
|
|
|
NM_005120.3(MED12):c.4937G>A (p.Arg1646Gln)
|
rs2092328967
|
|
NM_005120.3(MED12):c.4979C>G (p.Thr1660Ser)
|
|
|
NM_005120.3(MED12):c.5005G>A (p.Asp1669Asn)
|
rs779481901
|
|
NM_005120.3(MED12):c.503C>T (p.Ala168Val)
|
rs1602294043
|
|
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys)
|
rs1569482278
|
|
NM_005120.3(MED12):c.5237C>T (p.Pro1746Leu)
|
rs2147826599
|
|
NM_005120.3(MED12):c.5252C>A (p.Pro1751Gln)
|
rs748064846
|
|
NM_005120.3(MED12):c.5260C>G (p.Pro1754Ala)
|
|
|
NM_005120.3(MED12):c.5272G>C (p.Glu1758Gln)
|
|
|
NM_005120.3(MED12):c.5297C>A (p.Pro1766His)
|
|
|
NM_005120.3(MED12):c.5320G>A (p.Ala1774Thr)
|
|
|
NM_005120.3(MED12):c.5336C>T (p.Thr1779Ile)
|
rs1556338856
|
|
NM_005120.3(MED12):c.5344C>T (p.Arg1782Cys)
|
|
|
NM_005120.3(MED12):c.5345G>A (p.Arg1782His)
|
rs1060502167
|
|
NM_005120.3(MED12):c.5347AAG[2] (p.Lys1785del)
|
|
|
NM_005120.3(MED12):c.535C>T (p.His179Tyr)
|
|
|
NM_005120.3(MED12):c.536A>G (p.His179Arg)
|
rs2092285751
|
|
NM_005120.3(MED12):c.5400+4A>G
|
|
|
NM_005120.3(MED12):c.5400+6C>A
|
|
|
NM_005120.3(MED12):c.5401-3C>A
|
rs1180673067
|
|
NM_005120.3(MED12):c.5408G>A (p.Gly1803Glu)
|
rs2147827854
|
|
NM_005120.3(MED12):c.5417C>T (p.Pro1806Leu)
|
rs368093012
|
|
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp)
|
rs372271659
|
|
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln)
|
rs1432487094
|
|
NM_005120.3(MED12):c.5435A>G (p.Tyr1812Cys)
|
|
|
NM_005120.3(MED12):c.5440G>A (p.Val1814Met)
|
|
|
NM_005120.3(MED12):c.5475C>A (p.Asn1825Lys)
|
|
|
NM_005120.3(MED12):c.5487_5492dup (p.Thr1830_His1831insGlnThr)
|
rs2092334189
|
|
NM_005120.3(MED12):c.5497A>C (p.Asn1833His)
|
|
|
NM_005120.3(MED12):c.5552-3C>T
|
|
|
NM_005120.3(MED12):c.5621A>T (p.Tyr1874Phe)
|
|
|
NM_005120.3(MED12):c.5624C>T (p.Pro1875Leu)
|
|
|
NM_005120.3(MED12):c.5660G>A (p.Gly1887Asp)
|
|
|
NM_005120.3(MED12):c.566T>C (p.Ile189Thr)
|
|
|
NM_005120.3(MED12):c.5684C>T (p.Thr1895Ile)
|
|
|
NM_005120.3(MED12):c.5693A>G (p.Tyr1898Cys)
|
|
|
NM_005120.3(MED12):c.5708C>T (p.Pro1903Leu)
|
|
|
NM_005120.3(MED12):c.5717C>T (p.Pro1906Leu)
|
|
|
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys)
|
rs2147829625
|
|
NM_005120.3(MED12):c.5735G>T (p.Arg1912Leu)
|
rs767294730
|
|
NM_005120.3(MED12):c.5747A>G (p.Gln1916Arg)
|
rs2147829667
|
|
NM_005120.3(MED12):c.5748+11T>G
|
|
|
NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn)
|
|
|
NM_005120.3(MED12):c.5761A>T (p.Met1921Leu)
|
|
|
NM_005120.3(MED12):c.5773T>C (p.Ser1925Pro)
|
rs2147830190
|
|
NM_005120.3(MED12):c.5794C>A (p.Pro1932Thr)
|
|
|
NM_005120.3(MED12):c.5794C>T (p.Pro1932Ser)
|
|
|
NM_005120.3(MED12):c.5819C>T (p.Thr1940Ile)
|
|
|
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser)
|
rs2147830593
|
|
NM_005120.3(MED12):c.5849A>T (p.His1950Leu)
|
rs2092336344
|
|
NM_005120.3(MED12):c.5867A>C (p.His1956Pro)
|
|
|
NM_005120.3(MED12):c.5878G>A (p.Ala1960Thr)
|
rs2092336411
|
|
NM_005120.3(MED12):c.5897C>A (p.Pro1966His)
|
rs2147830796
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
NM_005120.3(MED12):c.5923A>G (p.Ser1975Gly)
|
|
|
NM_005120.3(MED12):c.5957A>T (p.Asp1986Val)
|
|
|
NM_005120.3(MED12):c.5962A>G (p.Thr1988Ala)
|
|
|
NM_005120.3(MED12):c.5965C>T (p.Arg1989Cys)
|
rs1009330609
|
|
NM_005120.3(MED12):c.5970C>A (p.His1990Gln)
|
|
|
NM_005120.3(MED12):c.5972T>C (p.Leu1991Pro)
|
|
|
NM_005120.3(MED12):c.5983C>T (p.Pro1995Ser)
|
rs2092336678
|
|
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys)
|
rs1556339260
|
|
NM_005120.3(MED12):c.6015_6016delinsAA (p.Tyr2006Asn)
|
|
|
NM_005120.3(MED12):c.6020G>A (p.Gly2007Glu)
|
rs2147831227
|
|
NM_005120.3(MED12):c.6022C>A (p.His2008Asn)
|
rs2147831234
|
|
NM_005120.3(MED12):c.6023A>G (p.His2008Arg)
|
|
|
NM_005120.3(MED12):c.6029T>C (p.Leu2010Pro)
|
|
|
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala)
|
rs777453338
|
|
NM_005120.3(MED12):c.6038C>G (p.Thr2013Ser)
|
|
|
NM_005120.3(MED12):c.6045-7T>G
|
|
|
NM_005120.3(MED12):c.6069G>C (p.Gln2023His)
|
|
|
NM_005120.3(MED12):c.6070A>T (p.Thr2024Ser)
|
|
|
NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala)
|
rs2092344746
|
|
NM_005120.3(MED12):c.6103G>A (p.Ala2035Thr)
|
rs1602306821
|
|
NM_005120.3(MED12):c.6108G>C (p.Gln2036His)
|
|
|
NM_005120.3(MED12):c.6137C>G (p.Ala2046Gly)
|
|
|
NM_005120.3(MED12):c.6142C>G (p.Leu2048Val)
|
|
|
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del)
|
rs769857818
|
|
NM_005120.3(MED12):c.6150GCA[5] (p.Gln2076del)
|
rs769857818
|
|
NM_005120.3(MED12):c.6150GCA[7] (p.Gln2076dup)
|
rs769857818
|
|
NM_005120.3(MED12):c.6168_6197del (p.Gln2067_Gln2076del)
|
|
|
NM_005120.3(MED12):c.616C>G (p.Arg206Gly)
|
rs1556334331
|
|
NM_005120.3(MED12):c.616C>T (p.Arg206Trp)
|
|
|
NM_005120.3(MED12):c.6177ACAGCAACAGCAGCAGCAGCAGCA[1] (p.Gln2069_Gln2076del)
|
rs773709991
|
|
NM_005120.3(MED12):c.6177ACAGCA[1] (p.Gln2075_Gln2076del)
|
rs753370104
|
|
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)
|
rs767827315
|
|
NM_005120.3(MED12):c.6177_6194dup (p.Gln2076_Tyr2077insGlnGlnGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6180_6182dup (p.Gln2076dup)
|
rs2147839452
|
|
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del)
|
rs754533796
|
|
NM_005120.3(MED12):c.6186GCA[4] (p.Gln2076del)
|
|
|
NM_005120.3(MED12):c.6207_6218dup (p.Gln2076_Tyr2077insGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6239G>A (p.Arg2080Gln)
|
rs1602306967
|
|
NM_005120.3(MED12):c.6239_6247dup (p.Gln2082_Gln2083insArgGlnGln)
|
|
|
NM_005120.3(MED12):c.6241CAG[4] (p.Gln2085_Gln2086del)
|
rs786200971
|
|
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del)
|
rs786200971
|
|
NM_005120.3(MED12):c.6241CAG[8] (p.Gln2085_Gln2086dup)
|
rs786200971
|
|
NM_005120.3(MED12):c.6266G>A (p.Arg2089Gln)
|
rs1001050248
|
|
NM_005120.3(MED12):c.6267+3A>C
|
rs2092345559
|
|
NM_005120.3(MED12):c.6268-3T>C
|
|
|
NM_005120.3(MED12):c.6274C>A (p.Gln2092Lys)
|
|
|
NM_005120.3(MED12):c.6279ACAGCA[1] (p.Gln2114_Gln2115del)
|
|
|
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs761195801
|
|
NM_005120.3(MED12):c.6279_6290del (p.Gln2112_Gln2115del)
|
|
|
NM_005120.3(MED12):c.6288GCA[11] (p.Gln2115_His2116insGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6288GCA[4] (p.Gln2113_Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[8] (p.Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.6297GCAGCAGCAGCAACAGCAACA[3] (p.Gln2109_Gln2115dup)
|
rs1425637621
|
|
NM_005120.3(MED12):c.6300_6314dup (p.Gln2111_Gln2115dup)
|
rs2092346839
|
|
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del)
|
rs764789036
|
|
NM_005120.3(MED12):c.6309ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs764789036
|
|
NM_005120.3(MED12):c.6309_6323dup (p.Gln2115_His2116insGlnGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6309_6326dup (p.Gln2110_Gln2115dup)
|
rs2147841816
|
|
NM_005120.3(MED12):c.6312_6338del (p.Gln2107_Gln2115del)
|
|
|
NM_005120.3(MED12):c.6318GCA[6] (p.Gln2115_His2116insGlnGln)
|
|
|
NM_005120.3(MED12):c.6318_6347del (p.Gln2106_Gln2115del)
|
|
|
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)
|
rs727503869
|
|
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)
|
rs1353930135
|
|
NM_005120.3(MED12):c.6336_6362dup (p.Gln2123_Ala2124insGlnHisGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup)
|
rs1433422316
|
|
NM_005120.3(MED12):c.6360G>C (p.Gln2120His)
|
|
|
NM_005120.3(MED12):c.6371C>T (p.Ala2124Val)
|
|
|
NM_005120.3(MED12):c.6386C>G (p.Pro2129Arg)
|
|
|
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)
|
|
|
NM_005120.3(MED12):c.6408+16C>T
|
rs1057522248
|
|
NM_005120.3(MED12):c.6416_6439del (p.Arg2139_Gln2146del)
|
|
|
NM_005120.3(MED12):c.6479A>G (p.Gln2160Arg)
|
|
|
NM_005120.3(MED12):c.6488C>G (p.Ser2163Cys)
|
|
|
NM_005120.3(MED12):c.6490+6C>T
|
rs2147845031
|
|
NM_005120.3(MED12):c.6506C>A (p.Pro2169His)
|
|
|
NM_005120.3(MED12):c.6509G>T (p.Ser2170Ile)
|
|
|
NM_005120.3(MED12):c.6520T>A (p.Phe2174Ile)
|
|
|
NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu)
|
rs2092350107
|
|
NM_005120.3(MED12):c.658G>C (p.Gly220Arg)
|
rs2147777706
|
|
NM_005120.3(MED12):c.66C>A (p.Pro22=)
|
rs2092281557
|
|
NM_005120.3(MED12):c.691C>T (p.Arg231Trp)
|
|
|
NM_005120.3(MED12):c.701A>G (p.Asp234Gly)
|
|
|
NM_005120.3(MED12):c.706A>G (p.Thr236Ala)
|
rs2147777907
|
|
NM_005120.3(MED12):c.70G>A (p.Val24Ile)
|
rs2092281566
|
|
NM_005120.3(MED12):c.715C>G (p.Leu239Val)
|
|
|
NM_005120.3(MED12):c.733C>A (p.Gln245Lys)
|
|
|
NM_005120.3(MED12):c.735+13G>T
|
|
|
NM_005120.3(MED12):c.736-3T>C
|
rs2092288995
|
|
NM_005120.3(MED12):c.846+3A>T
|
|
|
NM_005120.3(MED12):c.85C>A (p.Pro29Thr)
|
rs2147767136
|
|
NM_005120.3(MED12):c.883C>T (p.Arg295Cys)
|
|
|
NM_005120.3(MED12):c.884G>A (p.Arg295His)
|
|
|
NM_005120.3(MED12):c.89A>G (p.Lys30Arg)
|
rs2147767167
|
|
NM_005120.3(MED12):c.907C>T (p.Arg303Trp)
|
|
|
NM_005120.3(MED12):c.908G>A (p.Arg303Gln)
|
|
|
NM_005120.3(MED12):c.919C>G (p.Leu307Val)
|
|
|
NM_005120.3(MED12):c.934G>A (p.Val312Met)
|
rs377403264
|
|
NM_005120.3(MED12):c.938G>A (p.Ser313Asn)
|
rs1317622485
|
|
NM_005120.3(MED12):c.941G>A (p.Ser314Asn)
|
|
|
NM_005120.3(MED12):c.959T>C (p.Ile320Thr)
|
|
|
NM_005120.3(MED12):c.965C>T (p.Ala322Val)
|
rs2092289745
|
|
NM_005120.3(MED12):c.968A>C (p.Gln323Pro)
|
|
|
NM_005120.3(MED12):c.988A>C (p.Thr330Pro)
|
rs2147780054
|
|
NM_005120.3(MED12):c.99G>A (p.Glu33=)
|
|
|
NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val)
|
rs1927055441
|
|
NM_005765.3(ATP6AP2):c.127C>T (p.Pro43Ser)
|
|
|
NM_005765.3(ATP6AP2):c.168+3A>G
|
|
|
NM_005765.3(ATP6AP2):c.169G>A (p.Asp57Asn)
|
|
|
NM_005765.3(ATP6AP2):c.176C>G (p.Ser59Cys)
|
|
|
NM_005765.3(ATP6AP2):c.209A>T (p.His70Leu)
|
rs2146539439
|
|
NM_005765.3(ATP6AP2):c.232G>T (p.Val78Leu)
|
rs796052283
|
|
NM_005765.3(ATP6AP2):c.259G>C (p.Ala87Pro)
|
rs1926620037
|
|
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn)
|
rs1450455949
|
|
NM_005765.3(ATP6AP2):c.289C>T (p.Pro97Ser)
|
rs1926621605
|
|
NM_005765.3(ATP6AP2):c.315T>A (p.Ser105Arg)
|
|
|
NM_005765.3(ATP6AP2):c.323G>A (p.Ser108Asn)
|
|
|
NM_005765.3(ATP6AP2):c.328G>A (p.Ala110Thr)
|
|
|
NM_005765.3(ATP6AP2):c.33G>A (p.Val11=)
|
rs1926309103
|
|
NM_005765.3(ATP6AP2):c.340C>T (p.His114Tyr)
|
|
|
NM_005765.3(ATP6AP2):c.351T>G (p.Phe117Leu)
|
|
|
NM_005765.3(ATP6AP2):c.35C>T (p.Ala12Val)
|
|
|
NM_005765.3(ATP6AP2):c.365C>T (p.Pro122Leu)
|
|
|
NM_005765.3(ATP6AP2):c.37+5G>A
|
|
|
NM_005765.3(ATP6AP2):c.375G>T (p.Leu125Phe)
|
|
|
NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile)
|
rs1555977799
|
|
NM_005765.3(ATP6AP2):c.428T>C (p.Val143Ala)
|
rs1926802970
|
|
NM_005765.3(ATP6AP2):c.448A>T (p.Thr150Ser)
|
rs2146542684
|
|
NM_005765.3(ATP6AP2):c.47G>A (p.Gly16Glu)
|
rs866274169
|
|
NM_005765.3(ATP6AP2):c.500C>T (p.Ser167Leu)
|
|
|
NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser)
|
rs1926552105
|
|
NM_005765.3(ATP6AP2):c.529A>G (p.Asn177Asp)
|
|
|
NM_005765.3(ATP6AP2):c.536T>C (p.Val179Ala)
|
rs773037776
|
|
NM_005765.3(ATP6AP2):c.724G>A (p.Asp242Asn)
|
rs2146543666
|
|
NM_005765.3(ATP6AP2):c.727G>A (p.Ala243Thr)
|
|
|
NM_005765.3(ATP6AP2):c.739-5_739-4del
|
|
|
NM_005765.3(ATP6AP2):c.752T>C (p.Met251Thr)
|
rs2146544175
|
|
NM_005765.3(ATP6AP2):c.766G>T (p.Gly256Cys)
|
|
|
NM_005765.3(ATP6AP2):c.775G>A (p.Ala259Thr)
|
|
|
NM_005765.3(ATP6AP2):c.811A>T (p.Thr271Ser)
|
|
|
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met)
|
rs1555978066
|
|
NM_005765.3(ATP6AP2):c.857C>T (p.Ala286Val)
|
|
|
NM_005765.3(ATP6AP2):c.858+4A>G
|
|
|
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=)
|
rs1555978069
|
|
NM_005765.3(ATP6AP2):c.878A>C (p.Tyr293Ser)
|
|
|
NM_005765.3(ATP6AP2):c.913G>A (p.Val305Met)
|
|
|
NM_005765.3(ATP6AP2):c.942G>A (p.Met314Ile)
|
rs2146547241
|
|
NM_005765.3(ATP6AP2):c.946G>A (p.Ala316Thr)
|
|
|
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp)
|
rs1555978614
|
|
NM_005765.3(ATP6AP2):c.961G>A (p.Val321Met)
|
rs2146547252
|
|
NM_005765.3(ATP6AP2):c.979A>G (p.Asn327Asp)
|
|
|
NM_005765.3(ATP6AP2):c.98G>A (p.Gly33Glu)
|
|
|
NM_006950.3(SYN1):c.1013A>G (p.Asn338Ser)
|
rs2057777720
|
|
NM_006950.3(SYN1):c.101C>T (p.Pro34Leu)
|
rs2147933524
|
|
NM_006950.3(SYN1):c.1025C>A (p.Ala342Glu)
|
|
|
NM_006950.3(SYN1):c.1046T>C (p.Met349Thr)
|
rs2057777596
|
|
NM_006950.3(SYN1):c.1055+5G>A
|
rs1479589627
|
|
NM_006950.3(SYN1):c.1093G>A (p.Gly365Arg)
|
rs2147913172
|
|
NM_006950.3(SYN1):c.1110C>G (p.Cys370Trp)
|
rs141925310
|
|
NM_006950.3(SYN1):c.112_126del (p.His38_Ala42del)
|
rs2057941937
|
|
NM_006950.3(SYN1):c.1159-6C>T
|
rs2057774148
|
|
NM_006950.3(SYN1):c.1161G>A (p.Val387=)
|
rs2057774095
|
|
NM_006950.3(SYN1):c.1176G>A (p.Met392Ile)
|
|
|
NM_006950.3(SYN1):c.1200T>G (p.Asp400Glu)
|
rs2057773904
|
|
NM_006950.3(SYN1):c.1202A>T (p.Glu401Val)
|
|
|
NM_006950.3(SYN1):c.1228G>A (p.Val410Met)
|
|
|
NM_006950.3(SYN1):c.1228G>T (p.Val410Leu)
|
|
|
NM_006950.3(SYN1):c.1258C>G (p.Arg420Gly)
|
rs780269723
|
|
NM_006950.3(SYN1):c.1265G>A (p.Arg422Gln)
|
|
|
NM_006950.3(SYN1):c.1269G>T (p.Gln423His)
|
|
|
NM_006950.3(SYN1):c.1269_1270delinsTT (p.Gln423_Arg424delinsHisTrp)
|
rs2057773624
|
|
NM_006950.3(SYN1):c.1271G>A (p.Arg424Gln)
|
|
|
NM_006950.3(SYN1):c.1310C>A (p.Pro437Gln)
|
|
|
NM_006950.3(SYN1):c.1319G>A (p.Gly440Glu)
|
rs1603050776
|
|
NM_006950.3(SYN1):c.1321G>A (p.Ala441Thr)
|
rs772106134
|
|
NM_006950.3(SYN1):c.1330T>G (p.Leu444Val)
|
|
|
NM_006950.3(SYN1):c.1331_1336del (p.Leu444_Arg446delinsCys)
|
|
|
NM_006950.3(SYN1):c.1342A>T (p.Thr448Ser)
|
|
|
NM_006950.3(SYN1):c.1354C>T (p.Pro452Ser)
|
rs2147912470
|
|
NM_006950.3(SYN1):c.1355C>T (p.Pro452Leu)
|
rs2147912468
|
|
NM_006950.3(SYN1):c.1363C>T (p.Pro455Ser)
|
rs1371497364
|
|
NM_006950.3(SYN1):c.1394-7C>A
|
rs1411087897
|
|
NM_006950.3(SYN1):c.139G>A (p.Gly47Arg)
|
rs1477670336
|
|
NM_006950.3(SYN1):c.1414C>T (p.Pro472Ser)
|
rs797046019
|
|
NM_006950.3(SYN1):c.1435C>A (p.Pro479Thr)
|
|
|
NM_006950.3(SYN1):c.1439C>T (p.Pro480Leu)
|
|
|
NM_006950.3(SYN1):c.1460C>T (p.Pro487Leu)
|
rs2147912337
|
|
NM_006950.3(SYN1):c.1490G>A (p.Gly497Glu)
|
rs2147912324
|
|
NM_006950.3(SYN1):c.1538C>T (p.Ser513Leu)
|
|
|
NM_006950.3(SYN1):c.1556C>T (p.Ala519Val)
|
|
|
NM_006950.3(SYN1):c.1568C>T (p.Ala523Val)
|
rs1341949224
|
|
NM_006950.3(SYN1):c.1571C>T (p.Pro524Leu)
|
rs2057770771
|
|
NM_006950.3(SYN1):c.1577C>T (p.Thr526Ile)
|
rs2147912281
|
|
NM_006950.3(SYN1):c.1592G>A (p.Arg531His)
|
rs2147912269
|
|
NM_006950.3(SYN1):c.1600C>T (p.Arg534Trp)
|
|
|
NM_006950.3(SYN1):c.1609G>A (p.Ala537Thr)
|
rs1603050507
|
|
NM_006950.3(SYN1):c.1646C>T (p.Pro549Leu)
|
|
|
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr)
|
rs397514680
|
|
NM_006950.3(SYN1):c.1648_1649delinsTT (p.Ala550Phe)
|
rs2057770383
|
|
NM_006950.3(SYN1):c.1654C>T (p.Pro552Ser)
|
|
|
NM_006950.3(SYN1):c.1667G>T (p.Arg556Leu)
|
rs913197225
|
|
NM_006950.3(SYN1):c.1673C>T (p.Ala558Val)
|
rs2147912173
|
|
NM_006950.3(SYN1):c.1682C>G (p.Pro561Arg)
|
rs2147912162
|
|
NM_006950.3(SYN1):c.169G>A (p.Val57Ile)
|
rs1200321961
|
|
NM_006950.3(SYN1):c.1711G>A (p.Gly571Ser)
|
rs1284009431
|
|
NM_006950.3(SYN1):c.1715C>A (p.Pro572Gln)
|
|
|
NM_006950.3(SYN1):c.1726A>G (p.Lys576Glu)
|
|
|
NM_006950.3(SYN1):c.1739C>T (p.Ala580Val)
|
rs2057769764
|
|
NM_006950.3(SYN1):c.1754A>G (p.Gln585Arg)
|
|
|
NM_006950.3(SYN1):c.1759C>T (p.Arg587Cys)
|
|
|
NM_006950.3(SYN1):c.1820C>A (p.Ala607Glu)
|
rs1339706473
|
|
NM_006950.3(SYN1):c.1820C>G (p.Ala607Gly)
|
|
|
NM_006950.3(SYN1):c.1822G>T (p.Gly608Cys)
|
|
|
NM_006950.3(SYN1):c.1837A>C (p.Thr613Pro)
|
rs1603050300
|
|
NM_006950.3(SYN1):c.1855C>A (p.Gln619Lys)
|
rs1160768934
|
|
NM_006950.3(SYN1):c.185C>T (p.Ser62Phe)
|
|
|
NM_006950.3(SYN1):c.1864C>T (p.Arg622Trp)
|
|
|
NM_006950.3(SYN1):c.187C>G (p.Pro63Ala)
|
|
|
NM_006950.3(SYN1):c.1905G>T (p.Gln635His)
|
|
|
NM_006950.3(SYN1):c.1946C>T (p.Thr649Ile)
|
|
|
NM_006950.3(SYN1):c.1964C>T (p.Pro655Leu)
|
rs1333198986
|
|
NM_006950.3(SYN1):c.1966C>T (p.Pro656Ser)
|
|
|
NM_006950.3(SYN1):c.1970A>C (p.His657Pro)
|
rs992542097
|
|
NM_006950.3(SYN1):c.1972C>T (p.Pro658Ser)
|
rs755832757
|
|
NM_006950.3(SYN1):c.1976A>G (p.Gln659Arg)
|
|
|
NM_006950.3(SYN1):c.2023C>T (p.Pro675Ser)
|
rs2057764675
|
|
NM_006950.3(SYN1):c.2044C>T (p.Leu682Phe)
|
rs2147911481
|
|
NM_006950.3(SYN1):c.236C>T (p.Ser79Leu)
|
|
|
NM_006950.3(SYN1):c.250G>A (p.Val84Ile)
|
|
|
NM_006950.3(SYN1):c.260C>A (p.Thr87Asn)
|
rs2147933414
|
|
NM_006950.3(SYN1):c.272C>T (p.Ala91Val)
|
rs2147933405
|
|
NM_006950.3(SYN1):c.301G>T (p.Gly101Cys)
|
|
|
NM_006950.3(SYN1):c.310G>A (p.Gly104Arg)
|
rs2057941013
|
|
NM_006950.3(SYN1):c.316G>A (p.Ala106Thr)
|
rs794726957
|
|
NM_006950.3(SYN1):c.338C>G (p.Ser113Cys)
|
|
|
NM_006950.3(SYN1):c.350T>C (p.Leu117Pro)
|
rs1556861785
|
|
NM_006950.3(SYN1):c.377+4A>T
|
rs2147933325
|
|
NM_006950.3(SYN1):c.377+5G>A
|
|
|
NM_006950.3(SYN1):c.377+6C>A
|
|
|
NM_006950.3(SYN1):c.377+6C>G
|
rs1165500127
|
|
NM_006950.3(SYN1):c.42G>C (p.Met14Ile)
|
|
|
NM_006950.3(SYN1):c.472A>C (p.Asn158His)
|
rs759485248
|
|
NM_006950.3(SYN1):c.47A>G (p.Asn16Ser)
|
rs1289234549
|
|
NM_006950.3(SYN1):c.517_525del (p.Lys173_Val175del)
|
rs2147928561
|
|
NM_006950.3(SYN1):c.523G>A (p.Val175Met)
|
|
|
NM_006950.3(SYN1):c.527G>A (p.Arg176Gln)
|
|
|
NM_006950.3(SYN1):c.539C>T (p.Pro180Leu)
|
rs773013704
|
|
NM_006950.3(SYN1):c.548T>C (p.Val183Ala)
|
|
|
NM_006950.3(SYN1):c.553A>G (p.Ile185Val)
|
|
|
NM_006950.3(SYN1):c.581G>A (p.Arg194His)
|
rs373152478
|
|
NM_006950.3(SYN1):c.592T>C (p.Tyr198His)
|
rs2057893070
|
|
NM_006950.3(SYN1):c.619T>C (p.Tyr207His)
|
|
|
NM_006950.3(SYN1):c.635G>A (p.Ser212Asn)
|
rs1556860638
|
|
NM_006950.3(SYN1):c.684+5_684+8del
|
|
|
NM_006950.3(SYN1):c.685-3T>C
|
rs2057892214
|
|
NM_006950.3(SYN1):c.701G>A (p.Arg234Gln)
|
rs2057892166
|
|
NM_006950.3(SYN1):c.707A>G (p.His236Arg)
|
|
|
NM_006950.3(SYN1):c.755A>T (p.Tyr252Phe)
|
rs2057891950
|
|
NM_006950.3(SYN1):c.774+3G>A
|
rs2057891910
|
|
NM_006950.3(SYN1):c.775-3C>T
|
|
|
NM_006950.3(SYN1):c.794C>T (p.Pro265Leu)
|
rs2057781537
|
|
NM_006950.3(SYN1):c.79C>T (p.Arg27Cys)
|
rs2057942233
|
|
NM_006950.3(SYN1):c.860A>C (p.Asp287Ala)
|
rs2147913414
|
|
NM_006950.3(SYN1):c.88C>G (p.Pro30Ala)
|
rs2147933540
|
|
NM_006950.3(SYN1):c.910G>A (p.Ala304Thr)
|
|
|
NM_006950.3(SYN1):c.913G>A (p.Glu305Lys)
|
|
|
NM_006950.3(SYN1):c.925G>A (p.Asp309Asn)
|
|
|
NM_006950.3(SYN1):c.952A>C (p.Lys318Gln)
|
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NM_006950.3(SYN1):c.953A>C (p.Lys318Thr)
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rs2057778186
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NM_006950.3(SYN1):c.968A>G (p.Tyr323Cys)
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NM_006950.3(SYN1):c.986C>A (p.Thr329Lys)
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rs2057777813
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NM_006950.3(SYN1):c.98C>A (p.Pro33Gln)
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NM_016032.4(ZDHHC9):c.1003A>T (p.Asn335Tyr)
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NM_016032.4(ZDHHC9):c.1021A>G (p.Ser341Gly)
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NM_016032.4(ZDHHC9):c.1028C>T (p.Thr343Ile)
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rs2124096171
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NM_016032.4(ZDHHC9):c.1034A>C (p.Glu345Ala)
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NM_016032.4(ZDHHC9):c.1055C>G (p.Pro352Arg)
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rs893901934
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NM_016032.4(ZDHHC9):c.1075G>A (p.Ala359Thr)
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rs1927515432
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NM_016032.4(ZDHHC9):c.1084G>C (p.Ala362Pro)
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NM_016032.4(ZDHHC9):c.180G>A (p.Leu60=)
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NM_016032.4(ZDHHC9):c.184G>A (p.Val62Ile)
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NM_016032.4(ZDHHC9):c.197C>T (p.Pro66Leu)
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NM_016032.4(ZDHHC9):c.220A>G (p.Met74Val)
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NM_016032.4(ZDHHC9):c.222G>A (p.Met74Ile)
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NM_016032.4(ZDHHC9):c.23A>G (p.Lys8Arg)
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NM_016032.4(ZDHHC9):c.244A>G (p.Thr82Ala)
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rs2124124631
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NM_016032.4(ZDHHC9):c.266G>C (p.Ser89Thr)
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NM_016032.4(ZDHHC9):c.274G>A (p.Gly92Arg)
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rs2124124576
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NM_016032.4(ZDHHC9):c.313A>G (p.Ile105Val)
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rs2124124514
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NM_016032.4(ZDHHC9):c.328G>A (p.Glu110Lys)
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NM_016032.4(ZDHHC9):c.373C>T (p.Arg125Cys)
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NM_016032.4(ZDHHC9):c.397A>C (p.Asn133His)
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rs1556006445
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NM_016032.4(ZDHHC9):c.399C>A (p.Asn133Lys)
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rs911311531
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NM_016032.4(ZDHHC9):c.412C>A (p.Leu138Met)
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rs142944444
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NM_016032.4(ZDHHC9):c.443G>A (p.Arg148Gln)
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rs2124117199
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NM_016032.4(ZDHHC9):c.491G>A (p.Arg164His)
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NM_016032.4(ZDHHC9):c.516G>A (p.Val172=)
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NM_016032.4(ZDHHC9):c.53C>G (p.Pro18Arg)
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rs1928391209
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NM_016032.4(ZDHHC9):c.544C>T (p.Arg182Cys)
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rs2124105703
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NM_016032.4(ZDHHC9):c.562A>G (p.Ile188Val)
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NM_016032.4(ZDHHC9):c.586A>G (p.Ile196Val)
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NM_016032.4(ZDHHC9):c.614A>G (p.Tyr205Cys)
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rs2124105555
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NM_016032.4(ZDHHC9):c.673A>G (p.Thr225Ala)
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rs1927697408
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NM_016032.4(ZDHHC9):c.698T>C (p.Phe233Ser)
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NM_016032.4(ZDHHC9):c.715G>A (p.Val239Ile)
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NM_016032.4(ZDHHC9):c.718G>A (p.Val240Met)
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NM_016032.4(ZDHHC9):c.764C>A (p.Thr255Lys)
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rs1927670769
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NM_016032.4(ZDHHC9):c.76G>A (p.Asp26Asn)
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NM_016032.4(ZDHHC9):c.770A>G (p.Asn257Ser)
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NM_016032.4(ZDHHC9):c.790T>C (p.Trp264Arg)
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NM_016032.4(ZDHHC9):c.805C>T (p.Arg269Cys)
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NM_016032.4(ZDHHC9):c.913G>C (p.Glu305Gln)
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NM_016032.4(ZDHHC9):c.925A>G (p.Ser309Gly)
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rs1927626006
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NM_016032.4(ZDHHC9):c.949A>T (p.Thr317Ser)
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rs1927624839
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NM_016032.4(ZDHHC9):c.952A>T (p.Ser318Cys)
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NM_016032.4(ZDHHC9):c.961C>T (p.Leu321Phe)
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NM_016032.4(ZDHHC9):c.978+6T>G
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NM_016032.4(ZDHHC9):c.979G>A (p.Ala327Thr)
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NM_016032.4(ZDHHC9):c.984del (p.Thr329fs)
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rs779289842
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NM_031206.7(LAS1L):c.1082C>G (p.Pro361Arg)
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rs867562406
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NM_031206.7(LAS1L):c.1083A>G (p.Pro361=)
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NM_031206.7(LAS1L):c.1114G>C (p.Val372Leu)
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rs186130633
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NM_031206.7(LAS1L):c.1129C>G (p.Pro377Ala)
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NM_031206.7(LAS1L):c.1203G>T (p.Arg401Ser)
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rs1569438242
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NM_031206.7(LAS1L):c.1472G>A (p.Gly491Asp)
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rs1556301877
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NM_031206.7(LAS1L):c.1505G>A (p.Arg502His)
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NM_031206.7(LAS1L):c.1570C>G (p.Pro524Ala)
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rs2068725707
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NM_031206.7(LAS1L):c.1822G>T (p.Val608Leu)
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NM_031206.7(LAS1L):c.1837A>G (p.Thr613Ala)
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rs2148270110
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NM_031206.7(LAS1L):c.1889G>T (p.Arg630Ile)
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rs2148270017
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NM_031206.7(LAS1L):c.2050C>T (p.Arg684Trp)
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rs762602796
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NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln)
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rs900809839
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NM_031206.7(LAS1L):c.2104G>A (p.Gly702Ser)
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NM_031206.7(LAS1L):c.2176G>A (p.Gly726Arg)
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NM_031206.7(LAS1L):c.320G>A (p.Gly107Asp)
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rs2069620231
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NM_031206.7(LAS1L):c.43G>C (p.Gly15Arg)
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NM_031206.7(LAS1L):c.502G>A (p.Asp168Asn)
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rs1569443405
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NM_031206.7(LAS1L):c.663C>A (p.Asp221Glu)
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rs778389447
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NM_031206.7(LAS1L):c.704G>A (p.Ser235Asn)
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rs755168381
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NM_031206.7(LAS1L):c.706A>G (p.Thr236Ala)
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rs2069367677
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NM_031206.7(LAS1L):c.727G>A (p.Asp243Asn)
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NM_031206.7(LAS1L):c.942_956+6dup
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NM_031206.7(LAS1L):c.947G>A (p.Cys316Tyr)
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NM_080632.3(UPF3B):c.1024G>A (p.Gly342Ser)
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NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp)
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NM_080632.3(UPF3B):c.1052A>G (p.Glu351Gly)
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NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val)
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NM_080632.3(UPF3B):c.1103G>A (p.Arg368Gln)
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NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del)
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NM_080632.3(UPF3B):c.1196C>T (p.Thr399Ile)
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NM_080632.3(UPF3B):c.1255dup (p.Thr419fs)
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NM_080632.3(UPF3B):c.1264_1266del (p.Lys422del)
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NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg)
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NM_080632.3(UPF3B):c.1352G>A (p.Arg451Gln)
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NM_080632.3(UPF3B):c.1372A>G (p.Ser458Gly)
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NM_080632.3(UPF3B):c.1383dup (p.Gly462fs)
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NM_080632.3(UPF3B):c.181A>G (p.Thr61Ala)
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NM_080632.3(UPF3B):c.182C>G (p.Thr61Ser)
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NM_080632.3(UPF3B):c.190A>G (p.Lys64Glu)
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NM_080632.3(UPF3B):c.224C>T (p.Pro75Leu)
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NM_080632.3(UPF3B):c.241G>A (p.Glu81Lys)
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NM_080632.3(UPF3B):c.263+19_263+20delinsAA
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NM_080632.3(UPF3B):c.319A>G (p.Ile107Val)
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NM_080632.3(UPF3B):c.332G>A (p.Arg111Lys)
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NM_080632.3(UPF3B):c.365A>G (p.Asn122Ser)
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NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)
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NM_080632.3(UPF3B):c.463G>A (p.Asp155Asn)
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NM_080632.3(UPF3B):c.470A>G (p.Asp157Gly)
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rs2147790181
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NM_080632.3(UPF3B):c.494A>C (p.Glu165Ala)
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NM_080632.3(UPF3B):c.520A>G (p.Met174Val)
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NM_080632.3(UPF3B):c.56C>T (p.Pro19Leu)
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NM_080632.3(UPF3B):c.659G>A (p.Arg220Lys)
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NM_080632.3(UPF3B):c.711AGA[2] (p.Glu240del)
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rs2056156815
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NM_080632.3(UPF3B):c.836A>G (p.Asn279Ser)
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NM_080632.3(UPF3B):c.89C>T (p.Ser30Leu)
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NM_080632.3(UPF3B):c.937A>G (p.Arg313Gly)
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NM_080632.3(UPF3B):c.950A>G (p.Gln317Arg)
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