|
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)
|
rs1953337
|
0.19198
|
|
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=)
|
rs41300169
|
0.06912
|
|
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=)
|
rs16983426
|
0.01400
|
|
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=)
|
rs56277715
|
0.01073
|
|
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=)
|
rs184883626
|
0.00997
|
|
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)
|
rs56307810
|
0.00942
|
|
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=)
|
rs61744561
|
0.00798
|
|
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=)
|
rs192354176
|
0.00272
|
|
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631
|
0.00228
|
|
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)
|
rs184545774
|
0.00151
|
|
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val)
|
rs55868891
|
0.00125
|
|
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)
|
rs191333060
|
0.00123
|
|
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys)
|
rs3764758
|
0.00118
|
|
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala)
|
rs200854927
|
0.00074
|
|
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val)
|
rs200728466
|
0.00071
|
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
|
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=)
|
rs199628956
|
0.00055
|
|
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=)
|
rs56375542
|
0.00054
|
|
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile)
|
rs138771033
|
0.00040
|
|
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637
|
0.00039
|
|
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His)
|
rs141816797
|
0.00038
|
|
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=)
|
rs192122222
|
0.00038
|
|
NM_001184880.2(PCDH19):c.2617-7A>G
|
rs370859689
|
0.00035
|
|
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=)
|
rs373795773
|
0.00031
|
|
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=)
|
rs776150934
|
0.00026
|
|
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu)
|
rs143490560
|
0.00025
|
|
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=)
|
rs375759744
|
0.00022
|
|
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=)
|
rs200471732
|
0.00021
|
|
NM_001353921.2(ARHGEF9):c.946-4C>A
|
rs56398019
|
0.00020
|
|
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=)
|
rs372006606
|
0.00018
|
|
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=)
|
rs377627937
|
0.00018
|
|
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val)
|
rs141815718
|
0.00018
|
|
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=)
|
rs749602848
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val)
|
rs56110425
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=)
|
rs56182751
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.885G>A (p.Lys295=)
|
rs199625034
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn)
|
rs782577519
|
0.00015
|
|
NM_001353921.2(ARHGEF9):c.1488G>A (p.Ser496=)
|
rs782580975
|
0.00015
|
|
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=)
|
rs376406896
|
0.00014
|
|
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_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala)
|
rs201671718
|
0.00012
|
|
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg)
|
rs747124369
|
0.00012
|
|
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=)
|
rs181719144
|
0.00012
|
|
NM_001184880.2(PCDH19):c.1107C>T (p.Ala369=)
|
rs199879056
|
0.00011
|
|
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His)
|
rs201611496
|
0.00011
|
|
NM_001353921.2(ARHGEF9):c.946-16C>T
|
rs781867369
|
0.00011
|
|
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu)
|
rs372445055
|
0.00011
|
|
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=)
|
rs773740606
|
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_001184880.2(PCDH19):c.594C>G (p.Arg198=)
|
rs370348930
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu)
|
rs782248986
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1386A>G (p.Gln462=)
|
rs782354481
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=)
|
rs145815177
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.31-29583C>A
|
rs370045250
|
0.00009
|
|
NM_001184880.2(PCDH19):c.1059T>C (p.Ser353=)
|
rs1178813036
|
0.00008
|
|
NM_001184880.2(PCDH19):c.1602G>A (p.Leu534=)
|
rs370939779
|
0.00008
|
|
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu)
|
rs371605184
|
0.00008
|
|
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=)
|
rs150129110
|
0.00008
|
|
NM_001184880.2(PCDH19):c.1218G>C (p.Leu406=)
|
rs368465446
|
0.00007
|
|
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile)
|
rs201764553
|
0.00007
|
|
NM_001184880.2(PCDH19):c.573G>C (p.Val191=)
|
rs766347338
|
0.00007
|
|
NM_001184880.2(PCDH19):c.792T>C (p.Asp264=)
|
rs373181586
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.24G>A (p.Ser8=)
|
rs1413001108
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.402+7A>T
|
rs373304318
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=)
|
rs782313473
|
0.00007
|
|
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met)
|
rs779051005
|
0.00006
|
|
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln)
|
rs748581653
|
0.00006
|
|
NM_001184880.2(PCDH19):c.2973C>T (p.Ile991=)
|
rs769375997
|
0.00006
|
|
NM_001184880.2(PCDH19):c.3195C>A (p.Val1065=)
|
rs781312992
|
0.00006
|
|
NM_001184880.2(PCDH19):c.540G>A (p.Thr180=)
|
rs368094294
|
0.00006
|
|
NM_001184880.2(PCDH19):c.591C>T (p.Asp197=)
|
rs374554305
|
0.00006
|
|
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys)
|
rs746274631
|
0.00006
|
|
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=)
|
rs373866956
|
0.00006
|
|
NM_001353921.2(ARHGEF9):c.777G>A (p.Gln259=)
|
rs1057522740
|
0.00006
|
|
NM_001184880.2(PCDH19):c.1644G>A (p.Thr548=)
|
rs372952752
|
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.2430C>T (p.Ser810=)
|
rs751223449
|
0.00005
|
|
NM_001184880.2(PCDH19):c.2939G>A (p.Arg980His)
|
rs368872920
|
0.00005
|
|
NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=)
|
rs772345040
|
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_001184880.2(PCDH19):c.3320G>A (p.Arg1107His)
|
rs200021840
|
0.00005
|
|
NM_001184880.2(PCDH19):c.34C>T (p.Leu12=)
|
rs769164159
|
0.00005
|
|
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=)
|
rs368963363
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val)
|
rs781988728
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1390+18A>G
|
rs782653539
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1391-4C>G
|
rs1556301481
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser)
|
rs781870482
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1443G>A (p.Pro481=)
|
rs782097997
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu)
|
rs369081815
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.381G>A (p.Lys127=)
|
rs55818901
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.729T>C (p.Asp243=)
|
rs781930227
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=)
|
rs369716500
|
0.00005
|
|
NM_001184880.2(PCDH19):c.1246C>A (p.His416Asn)
|
rs778618689
|
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.2358C>T (p.Ile786=)
|
rs768467022
|
0.00004
|
|
NM_001184880.2(PCDH19):c.2361C>G (p.Arg787=)
|
rs754841050
|
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_001353921.2(ARHGEF9):c.372C>T (p.His124=)
|
rs138198839
|
0.00004
|
|
NM_001353921.2(ARHGEF9):c.555C>T (p.Ser185=)
|
rs782520132
|
0.00004
|
|
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=)
|
rs587784295
|
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.2849-13T>C
|
rs758872425
|
0.00003
|
|
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp)
|
rs774986147
|
0.00003
|
|
NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=)
|
rs753986660
|
0.00003
|
|
NM_001184880.2(PCDH19):c.482T>C (p.Phe161Ser)
|
rs371028786
|
0.00003
|
|
NM_001184880.2(PCDH19):c.51G>A (p.Thr17=)
|
rs756958731
|
0.00003
|
|
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg)
|
rs796052803
|
0.00003
|
|
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=)
|
rs780266148
|
0.00003
|
|
NM_001184880.2(PCDH19):c.631C>T (p.Leu211=)
|
rs771523465
|
0.00003
|
|
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met)
|
rs755403368
|
0.00003
|
|
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=)
|
rs750813033
|
0.00003
|
|
NM_001184880.2(PCDH19):c.922G>A (p.Glu308Lys)
|
rs775309866
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.1017C>T (p.Tyr339=)
|
rs782314375
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.1490A>G (p.Gln497Arg)
|
rs371200226
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.261G>T (p.Gln87His)
|
rs373001354
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=)
|
rs782187939
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.583-18T>G
|
rs1057521815
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.732T>A (p.Gly244=)
|
rs1322872780
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.924G>A (p.Gln308=)
|
rs1556358973
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.949G>A (p.Glu317Lys)
|
rs782166488
|
0.00003
|
|
NM_001184880.2(PCDH19):c.1200G>A (p.Glu400=)
|
rs759132569
|
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.1552C>T (p.Leu518=)
|
rs1197941611
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val)
|
rs796052818
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1752C>T (p.Gly584=)
|
rs1240901255
|
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.2289-11C>G
|
rs777190334
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2372G>A (p.Arg791Gln)
|
rs886042264
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2451C>T (p.His817=)
|
rs759932441
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2460G>A (p.Thr820=)
|
rs766769854
|
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.2721T>C (p.Ser907=)
|
rs376946966
|
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.2994T>C (p.Thr998=)
|
rs745398684
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3045C>T (p.Phe1015=)
|
rs746702101
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=)
|
rs1358480010
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=)
|
rs199702403
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3183G>A (p.Ala1061=)
|
rs746084690
|
0.00002
|
|
NM_001184880.2(PCDH19):c.321C>T (p.Ser107=)
|
rs767664406
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3228C>T (p.Pro1076=)
|
rs759007349
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3259C>T (p.Leu1087=)
|
rs373432764
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys)
|
rs375132545
|
0.00002
|
|
NM_001184880.2(PCDH19):c.390G>A (p.Pro130=)
|
rs775408951
|
0.00002
|
|
NM_001184880.2(PCDH19):c.39C>T (p.Ala13=)
|
rs773244265
|
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.798C>T (p.Asp266=)
|
rs369638371
|
0.00002
|
|
NM_001184880.2(PCDH19):c.851G>A (p.Arg284His)
|
rs749526030
|
0.00002
|
|
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=)
|
rs779759129
|
0.00002
|
|
NM_001184880.2(PCDH19):c.894C>T (p.Val298=)
|
rs1362026055
|
0.00002
|
|
NM_001184880.2(PCDH19):c.915C>T (p.Asp305=)
|
rs1381662261
|
0.00002
|
|
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu)
|
rs1396289338
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1011G>A (p.Gln337=)
|
rs1330960420
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=)
|
rs782666474
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1078-19C>T
|
rs1412565246
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1293G>A (p.Arg431=)
|
rs782387990
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1390+11C>T
|
rs782212638
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1452C>T (p.His484=)
|
rs782395885
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1479C>T (p.Ile493=)
|
rs781904925
|
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_001353921.2(ARHGEF9):c.448G>A (p.Glu150Lys)
|
rs782237174
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.576A>G (p.Leu192=)
|
rs1556389015
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.815+11G>A
|
rs782246143
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.955A>G (p.Ile319Val)
|
rs781938857
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1032G>C (p.Pro344=)
|
rs1429555639
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr)
|
rs755904886
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=)
|
rs761099954
|
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.1362C>G (p.Ser454=)
|
rs903487668
|
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.1434C>T (p.Arg478=)
|
rs137962077
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met)
|
rs773087045
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=)
|
rs184770215
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1506C>T (p.Val502=)
|
rs1301308123
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr)
|
rs778072039
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1569C>T (p.His523=)
|
rs753119035
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1605C>T (p.Ala535=)
|
rs754032170
|
0.00001
|
|
NM_001184880.2(PCDH19):c.162C>T (p.Asp54=)
|
rs1040413042
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1662C>T (p.Leu554=)
|
rs758658173
|
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.177A>T (p.Ser59=)
|
rs1466130318
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1831G>C (p.Asp611His)
|
rs1361535008
|
0.00001
|
|
NM_001184880.2(PCDH19):c.186C>T (p.Arg62=)
|
rs1282368557
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1881C>T (p.Thr627=)
|
rs1368009329
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1941C>T (p.His647=)
|
rs765223789
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1956C>G (p.Leu652=)
|
rs1928356628
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1962C>G (p.Ala654=)
|
rs759032566
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1971C>G (p.Leu657=)
|
rs770353924
|
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.201G>A (p.Ser67=)
|
rs202078154
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly)
|
rs780704524
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2203A>G (p.Lys735Glu)
|
rs1382149285
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2223G>A (p.Ser741=)
|
rs907375983
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2252A>G (p.Lys751Arg)
|
rs1159118052
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2288+9G>T
|
rs753792839
|
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.2496C>T (p.Phe832=)
|
rs774555485
|
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.2523C>T (p.Arg841=)
|
rs374726171
|
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.2598C>T (p.Asn866=)
|
rs371444167
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2599G>A (p.Gly867Ser)
|
rs752424355
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2616+3G>A
|
rs1276499316
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2619T>A (p.Thr873=)
|
rs2098901532
|
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.2676-8C>T
|
rs1174620986
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=)
|
rs61742914
|
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.2907G>A (p.Arg969=)
|
rs766776515
|
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.3024C>T (p.Cys1008=)
|
rs1266028176
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3033C>G (p.Thr1011=)
|
rs1355245225
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=)
|
rs886043091
|
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.3117C>T (p.Val1039=)
|
rs587781106
|
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.3213C>G (p.Leu1071=)
|
rs1402645764
|
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.3306C>T (p.Asn1102=)
|
rs1924606179
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3309T>C (p.Asn1103=)
|
rs753229559
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3341G>A (p.Arg1114His)
|
rs770137596
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3351T>C (p.Asp1117=)
|
rs587781107
|
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.3393A>G (p.Glu1131=)
|
rs1448795169
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His)
|
rs771849535
|
0.00001
|
|
NM_001184880.2(PCDH19):c.405G>A (p.Glu135=)
|
rs1167814430
|
0.00001
|
|
NM_001184880.2(PCDH19):c.456C>T (p.Ser152=)
|
rs760286079
|
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.630G>A (p.Ala210=)
|
rs781763211
|
0.00001
|
|
NM_001184880.2(PCDH19):c.639T>C (p.Gly213=)
|
rs1349440230
|
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.695A>G (p.Asn232Ser)
|
rs587784299
|
0.00001
|
|
NM_001184880.2(PCDH19):c.705C>T (p.Asn235=)
|
rs750043738
|
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.729C>T (p.Tyr243=)
|
rs1166554052
|
0.00001
|
|
NM_001184880.2(PCDH19):c.741G>T (p.Val247=)
|
rs1057521743
|
0.00001
|
|
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=)
|
rs1338518342
|
0.00001
|
|
NM_001184880.2(PCDH19):c.807C>A (p.Thr269=)
|
rs1467272137
|
0.00001
|
|
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser)
|
rs772171727
|
0.00001
|
|
NM_001184880.2(PCDH19):c.889C>T (p.Leu297=)
|
rs1489598292
|
0.00001
|
|
NM_001184880.2(PCDH19):c.948G>T (p.Val316=)
|
rs371533263
|
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.1077+13C>G
|
rs782189949
|
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.1116C>T (p.Arg372=)
|
rs1556334992
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1194C>T (p.Ala398=)
|
rs1556334802
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1245G>A (p.Lys415=)
|
rs781947373
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1257A>G (p.Glu419=)
|
rs1556334685
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1322-17A>T
|
rs782417263
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-12C>T
|
rs2047417425
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-5T>C
|
rs1181371428
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-7A>G
|
rs1602145711
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1409C>T (p.Ser470Leu)
|
rs782206262
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1434G>A (p.Pro478=)
|
rs782705959
|
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.1482T>C (p.Ala494=)
|
rs782665661
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1518C>T (p.Arg506=)
|
rs782806516
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.248C>T (p.Pro83Leu)
|
rs1556402117
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.252C>T (p.Ser84=)
|
rs1367866917
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.264C>T (p.Asn88=)
|
rs782671712
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr)
|
rs1421919089
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.30+20G>A
|
rs1556464456
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.31-10G>T
|
rs782313914
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.31-16C>T
|
rs782420279
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp)
|
rs1556401755
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.366G>A (p.Glu122=)
|
rs781834665
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.403-19G>A
|
rs782062229
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.408T>C (p.Tyr136=)
|
rs782079969
|
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.432G>A (p.Arg144=)
|
rs781937951
|
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.639G>A (p.Met213Ile)
|
rs1384182085
|
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.720T>C (p.Ile240=)
|
rs1556365249
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.726C>T (p.Ile242=)
|
rs1556365224
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.727G>A (p.Asp243Asn)
|
rs782266558
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.759C>A (p.Ile253=)
|
rs782598343
|
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.946-19C>A
|
rs1159447904
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=)
|
rs141158169
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.95G>A (p.Arg32Gln)
|
rs782244025
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.972G>A (p.Ser324=)
|
rs1556347447
|
0.00001
|
|
NC_000023.10:g.(?_62857908)_(64196257_?)dup
|
|
|
|
NC_000023.10:g.(?_62875364)_(62944601_?)del
|
|
|
|
NC_000023.10:g.(?_62893898)_(63005025_?)dup
|
|
|
|
NC_000023.10:g.(?_99551255)_(99905882_?)del
|
|
|
|
NC_000023.10:g.(?_99551255)_(99926004_?)del
|
|
|
|
NC_000023.10:g.(?_99551255)_(99926004_?)dup
|
|
|
|
NC_000023.10:g.(?_99551275)_(100099087_?)del
|
|
|
|
NC_000023.10:g.(?_99551275)_(101097764_?)dup
|
|
|
|
NC_000023.10:g.(?_99551275)_(99605722_?)del
|
|
|
|
NC_000023.10:g.(?_99596881)_(99597093_?)del
|
|
|
|
NC_000023.10:g.(?_99596881)_(99597093_?)dup
|
|
|
|
NC_000023.10:g.(?_99596891)_(99597083_?)del
|
|
|
|
NC_000023.10:g.(?_99605624)_(99605722_?)del
|
|
|
|
NC_000023.10:g.(?_99657775)_(99662816_?)del
|
|
|
|
NC_000023.11:g.(?_100296257)_(100296895_?)del
|
|
|
|
NC_000023.11:g.(?_100296257)_(100342095_?)del
|
|
|
|
NC_000023.11:g.(?_100296257)_(100408617_?)del
|
|
|
|
NC_000023.11:g.(?_100296257)_(100408617_?)dup
|
|
|
|
NC_000023.11:g.(?_100402504)_(100402871_?)del
|
|
|
|
NC_000023.11:g.(?_100402504)_(100408617_?)del
|
|
|
|
NM_001184880.1(PCDH19):c.79_2616+17371del
|
|
|
|
NM_001184880.2(PCDH19):c.1000G>C (p.Val334Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1001_1007del (p.Val334fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1002C>T (p.Val334=)
|
rs945213958
|
|
|
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.1019A>C (p.Asn340Thr)
|
rs796052839
|
|
|
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)
|
rs796052839
|
|
|
NM_001184880.2(PCDH19):c.1022A>G (p.Asp341Gly)
|
rs2147539926
|
|
|
NM_001184880.2(PCDH19):c.1029G>T (p.Pro343=)
|
|
|
|
NM_001184880.2(PCDH19):c.1030C>G (p.Pro344Ala)
|
|
|
|
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln)
|
rs796052811
|
|
|
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)
|
rs796052811
|
|
|
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu)
|
rs796052811
|
|
|
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val)
|
rs1928413482
|
|
|
NM_001184880.2(PCDH19):c.1036_1040dup (p.Asn347fs)
|
rs2147539848
|
|
|
NM_001184880.2(PCDH19):c.1037T>C (p.Ile346Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.103G>C (p.Ala35Pro)
|
rs2147542686
|
|
|
NM_001184880.2(PCDH19):c.1041C>T (p.Asn347=)
|
rs1182490407
|
|
|
NM_001184880.2(PCDH19):c.1045C>T (p.Leu349=)
|
|
|
|
NM_001184880.2(PCDH19):c.1056C>T (p.Asn352=)
|
rs2147539781
|
|
|
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs)
|
rs796052828
|
|
|
NM_001184880.2(PCDH19):c.1069G>A (p.Glu357Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln)
|
rs868697675
|
|
|
NM_001184880.2(PCDH19):c.106G>A (p.Gly36Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.1074C>T (p.Val358=)
|
|
|
|
NM_001184880.2(PCDH19):c.1078G>A (p.Glu360Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.1080G>C (p.Glu360Asp)
|
rs2147539716
|
|
|
NM_001184880.2(PCDH19):c.1083C>T (p.Ser361=)
|
|
|
|
NM_001184880.2(PCDH19):c.1085C>T (p.Ala362Val)
|
rs776497186
|
|
|
NM_001184880.2(PCDH19):c.1087C>A (p.Pro363Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.1090C>G (p.Pro364Ala)
|
|
|
|
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs)
|
rs758946412
|
|
|
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)
|
rs758946412
|
|
|
NM_001184880.2(PCDH19):c.1095C>T (p.Gly365=)
|
rs926688509
|
|
|
NM_001184880.2(PCDH19):c.1097A>G (p.Tyr366Cys)
|
rs1928409253
|
|
|
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter)
|
rs1239794408
|
|
|
NM_001184880.2(PCDH19):c.1101G>A (p.Val367=)
|
|
|
|
NM_001184880.2(PCDH19):c.1104C>G (p.Ile368Met)
|
|
|
|
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)
|
rs1602636688
|
|
|
NM_001184880.2(PCDH19):c.1110G>A (p.Leu370=)
|
|
|
|
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp)
|
rs796052812
|
|
|
NM_001184880.2(PCDH19):c.1116G>A (p.Arg372=)
|
|
|
|
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs)
|
rs2147539591
|
|
|
NM_001184880.2(PCDH19):c.1120T>A (p.Ser374Thr)
|
rs1928407939
|
|
|
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro)
|
rs1928407939
|
|
|
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer)
|
rs1569315042
|
|
|
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)
|
rs1928407580
|
|
|
NM_001184880.2(PCDH19):c.1129G>A (p.Asp377Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His)
|
rs1928407149
|
|
|
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val)
|
rs1555985306
|
|
|
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter)
|
rs1555985301
|
|
|
NM_001184880.2(PCDH19):c.1134_1137dup (p.Leu380fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1145del (p.Gly382fs)
|
rs1928406047
|
|
|
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His)
|
rs1569315006
|
|
|
NM_001184880.2(PCDH19):c.1151_1152dup (p.Gln385fs)
|
rs1928405402
|
|
|
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu)
|
rs1928405180
|
|
|
NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter)
|
rs1928405180
|
|
|
NM_001184880.2(PCDH19):c.1155del (p.Gln385fs)
|
|
|
|
NM_001184880.2(PCDH19):c.115A>C (p.Ile39Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1164G>A (p.Leu388=)
|
|
|
|
NM_001184880.2(PCDH19):c.1165C>G (p.Leu389Val)
|
rs1928404497
|
|
|
NM_001184880.2(PCDH19):c.1165C>T (p.Leu389=)
|
|
|
|
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs)
|
rs1602636591
|
|
|
NM_001184880.2(PCDH19):c.1172dup (p.Asn391fs)
|
rs1602636591
|
|
|
NM_001184880.2(PCDH19):c.1176G>T (p.Val392=)
|
rs1602636583
|
|
|
NM_001184880.2(PCDH19):c.1178C>T (p.Pro393Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.117_142dup (p.Glu48fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=)
|
rs769967221
|
|
|
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter)
|
rs769967221
|
|
|
NM_001184880.2(PCDH19):c.1188G>T (p.Leu396=)
|
|
|
|
NM_001184880.2(PCDH19):c.1189C>T (p.Gln397Ter)
|
rs2147539395
|
|
|
NM_001184880.2(PCDH19):c.1191G>A (p.Gln397=)
|
|
|
|
NM_001184880.2(PCDH19):c.1192G>T (p.Glu398Ter)
|
rs2147539378
|
|
|
NM_001184880.2(PCDH19):c.1196_1197del (p.Glu398_Tyr399insTer)
|
|
|
|
NM_001184880.2(PCDH19):c.1197T>G (p.Tyr399Ter)
|
rs2147539361
|
|
|
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile)
|
rs2147539327
|
|
|
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.1238G>C (p.Arg413Pro)
|
rs2147539292
|
|
|
NM_001184880.2(PCDH19):c.1240G>A (p.Glu414Lys)
|
rs796052813
|
|
|
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
|
|
|
|
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.1252C>T (p.Gln418Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.1256_1268del (p.Tyr419fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1263C>T (p.Leu421=)
|
|
|
|
NM_001184880.2(PCDH19):c.1265_1266del (p.Thr422fs)
|
rs886043572
|
|
|
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.1284C>A (p.Gly428=)
|
|
|
|
NM_001184880.2(PCDH19):c.1292C>G (p.Pro431Arg)
|
rs1569314874
|
|
|
NM_001184880.2(PCDH19):c.1297C>A (p.Leu433Met)
|
rs764650219
|
|
|
NM_001184880.2(PCDH19):c.12C>T (p.Leu4=)
|
rs1272402084
|
|
|
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter)
|
rs1928398128
|
|
|
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.1322T>A (p.Val441Glu)
|
rs132630323
|
|
|
NM_001184880.2(PCDH19):c.132del (p.Asp45fs)
|
rs1602638463
|
|
|
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu)
|
rs796052815
|
|
|
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu)
|
rs796052815
|
|
|
NM_001184880.2(PCDH19):c.1339A>G (p.Asn447Asp)
|
rs2147539047
|
|
|
NM_001184880.2(PCDH19):c.1342G>A (p.Asp448Asn)
|
rs1569314809
|
|
|
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr)
|
rs1569314809
|
|
|
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly)
|
rs1928395285
|
|
|
NM_001184880.2(PCDH19):c.1347C>T (p.Asn449=)
|
|
|
|
NM_001184880.2(PCDH19):c.1349A>C (p.His450Pro)
|
rs2147539030
|
|
|
NM_001184880.2(PCDH19):c.1349_1355del (p.His450fs)
|
|
|
|
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs)
|
rs1602638456
|
|
|
NM_001184880.2(PCDH19):c.1352C>T (p.Pro451Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1353G>T (p.Pro451=)
|
rs373795773
|
|
|
NM_001184880.2(PCDH19):c.1353del (p.His452fs)
|
rs2147539018
|
|
|
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.1371C>T (p.Tyr457=)
|
|
|
|
NM_001184880.2(PCDH19):c.1372T>A (p.Tyr458Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.1372dup (p.Tyr458fs)
|
rs2147538939
|
|
|
NM_001184880.2(PCDH19):c.1373A>G (p.Tyr458Cys)
|
rs1928392499
|
|
|
NM_001184880.2(PCDH19):c.1375C>T (p.Gln459Ter)
|
rs2147538918
|
|
|
NM_001184880.2(PCDH19):c.1375del (p.Gln459fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1376_1377insATGTTGAG (p.Gln459_Val460insCysTer)
|
rs2147538910
|
|
|
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter)
|
rs1555985820
|
|
|
NM_001184880.2(PCDH19):c.1390G>C (p.Glu464Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.13C>T (p.Leu5=)
|
|
|
|
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=)
|
rs794726896
|
|
|
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=)
|
rs1060504502
|
|
|
NM_001184880.2(PCDH19):c.140G>T (p.Arg47Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1410del (p.Tyr471fs)
|
rs1928388987
|
|
|
NM_001184880.2(PCDH19):c.1412A>G (p.Tyr471Cys)
|
|
|
|
NM_001184880.2(PCDH19):c.1416_1420del (p.Leu473fs)
|
rs2147538807
|
|
|
NM_001184880.2(PCDH19):c.1419_1422del (p.Ser474fs)
|
rs1085307873
|
|
|
NM_001184880.2(PCDH19):c.1421_1422del (p.Ser474fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1425_1426del (p.Ser476fs)
|
rs2147538796
|
|
|
NM_001184880.2(PCDH19):c.1427C>T (p.Ser476Phe)
|
|
|
|
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter)
|
rs132630326
|
|
|
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.1440C>T (p.Pro480=)
|
rs1928386353
|
|
|
NM_001184880.2(PCDH19):c.1440del (p.Asp481fs)
|
rs2147538759
|
|
|
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly)
|
rs1602636096
|
|
|
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs)
|
rs1555985163
|
|
|
NM_001184880.2(PCDH19):c.1443C>G (p.Asp481Glu)
|
rs1602636091
|
|
|
NM_001184880.2(PCDH19):c.1443C>T (p.Asp481=)
|
rs1602636091
|
|
|
NM_001184880.2(PCDH19):c.1444C>G (p.Leu482Val)
|
|
|
|
NM_001184880.2(PCDH19):c.1446G>T (p.Leu482=)
|
|
|
|
NM_001184880.2(PCDH19):c.1455C>T (p.Asn485=)
|
rs2147538708
|
|
|
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.1461del (p.Ser487fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser)
|
rs1555985142
|
|
|
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.1479_1483del (p.Pro494fs)
|
rs1928383528
|
|
|
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.1485G>T (p.Ser495=)
|
|
|
|
NM_001184880.2(PCDH19):c.1488G>C (p.Gln496His)
|
rs2147538625
|
|
|
NM_001184880.2(PCDH19):c.1500del (p.Met500fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1500dup (p.Pro501fs)
|
rs2147538605
|
|
|
NM_001184880.2(PCDH19):c.150dup (p.Phe51fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1512C>T (p.Thr504=)
|
|
|
|
NM_001184880.2(PCDH19):c.1514A>G (p.Tyr505Cys)
|
rs1928382143
|
|
|
NM_001184880.2(PCDH19):c.1518C>A (p.Val506=)
|
|
|
|
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs)
|
rs1131691646
|
|
|
NM_001184880.2(PCDH19):c.1526A>G (p.Asn509Ser)
|
rs1928381502
|
|
|
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter)
|
rs779665170
|
|
|
NM_001184880.2(PCDH19):c.1536A>T (p.Ser512=)
|
|
|
|
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.1538del (p.Gly513fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)
|
rs587784295
|
|
|
NM_001184880.2(PCDH19):c.154G>C (p.Ala52Pro)
|
|
|
|
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter)
|
rs1555985105
|
|
|
NM_001184880.2(PCDH19):c.1556del (p.Arg519fs)
|
rs2147538465
|
|
|
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.1579_2057delinsTCTCTGC (p.Lys527fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1581G>A (p.Lys527=)
|
|
|
|
NM_001184880.2(PCDH19):c.1581G>C (p.Lys527Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.158dup (p.Asp54fs)
|
|
|
|
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.1618C>T (p.Leu540Phe)
|
rs374593325
|
|
|
NM_001184880.2(PCDH19):c.1620T>C (p.Leu540=)
|
|
|
|
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs)
|
rs1602635781
|
|
|
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.1640delinsTA (p.Ala547fs)
|
rs1928375176
|
|
|
NM_001184880.2(PCDH19):c.1641T>C (p.Ala547=)
|
rs2147538281
|
|
|
NM_001184880.2(PCDH19):c.1643C>T (p.Thr548Met)
|
rs761718877
|
|
|
NM_001184880.2(PCDH19):c.1644G>C (p.Thr548=)
|
|
|
|
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs)
|
rs1928374520
|
|
|
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.1656C>T (p.Ile552=)
|
rs779051005
|
|
|
NM_001184880.2(PCDH19):c.1657_2616+3340del
|
|
|
|
NM_001184880.2(PCDH19):c.1659C>T (p.Ile553=)
|
|
|
|
NM_001184880.2(PCDH19):c.165C>G (p.Pro55=)
|
rs1002430549
|
|
|
NM_001184880.2(PCDH19):c.1660C>T (p.Leu554Phe)
|
|
|
|
NM_001184880.2(PCDH19):c.1662C>G (p.Leu554=)
|
|
|
|
NM_001184880.2(PCDH19):c.166C>G (p.Arg56Gly)
|
|
|
|
NM_001184880.2(PCDH19):c.1670A>G (p.Asn557Ser)
|
rs1928372472
|
|
|
NM_001184880.2(PCDH19):c.1671C>A (p.Asn557Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys)
|
rs267606933
|
|
|
NM_001184880.2(PCDH19):c.1671del (p.Asn557fs)
|
rs2147538169
|
|
|
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His)
|
rs748611349
|
|
|
NM_001184880.2(PCDH19):c.1675A>G (p.Asn559Asp)
|
rs2147538146
|
|
|
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs)
|
rs1569314475
|
|
|
NM_001184880.2(PCDH19):c.167G>A (p.Arg56Gln)
|
rs1928475827
|
|
|
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala)
|
rs1569314471
|
|
|
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser)
|
rs1569314471
|
|
|
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819
|
|
|
NM_001184880.2(PCDH19):c.1682C>T (p.Pro561Leu)
|
rs796052819
|
|
|
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs)
|
rs1602635656
|
|
|
NM_001184880.2(PCDH19):c.1693G>A (p.Ala565Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.1696C>G (p.Pro566Ala)
|
rs1928370474
|
|
|
NM_001184880.2(PCDH19):c.1696C>T (p.Pro566Ser)
|
rs1928370474
|
|
|
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu)
|
rs201989363
|
|
|
NM_001184880.2(PCDH19):c.1702C>T (p.Leu568=)
|
|
|
|
NM_001184880.2(PCDH19):c.1707dup (p.Asn570Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.1710C>T (p.Asn570=)
|
|
|
|
NM_001184880.2(PCDH19):c.1713_1719dup (p.Glu574fs)
|
rs1928369132
|
|
|
NM_001184880.2(PCDH19):c.1715del (p.Thr572fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1716T>A (p.Thr572=)
|
|
|
|
NM_001184880.2(PCDH19):c.1718C>G (p.Ala573Gly)
|
|
|
|
NM_001184880.2(PCDH19):c.1719C>G (p.Ala573=)
|
|
|
|
NM_001184880.2(PCDH19):c.1719C>T (p.Ala573=)
|
|
|
|
NM_001184880.2(PCDH19):c.1722G>A (p.Glu574=)
|
rs767824461
|
|
|
NM_001184880.2(PCDH19):c.1727A>G (p.Tyr576Cys)
|
|
|
|
NM_001184880.2(PCDH19):c.1728C>G (p.Tyr576Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.1732C>T (p.Pro578Ser)
|
rs951696281
|
|
|
NM_001184880.2(PCDH19):c.1737C>A (p.Arg579=)
|
|
|
|
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter)
|
rs749662385
|
|
|
NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro)
|
rs2147537859
|
|
|
NM_001184880.2(PCDH19):c.1765_1766del (p.Val589fs)
|
rs2147537854
|
|
|
NM_001184880.2(PCDH19):c.1776A>T (p.Ala592=)
|
rs2147537845
|
|
|
NM_001184880.2(PCDH19):c.177A>C (p.Ser59=)
|
rs1466130318
|
|
|
NM_001184880.2(PCDH19):c.1785C>T (p.Tyr595=)
|
|
|
|
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn)
|
rs1928365978
|
|
|
NM_001184880.2(PCDH19):c.1786G>T (p.Asp596Tyr)
|
rs1928365978
|
|
|
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly)
|
rs2147537831
|
|
|
NM_001184880.2(PCDH19):c.1803C>T (p.Gly601=)
|
|
|
|
NM_001184880.2(PCDH19):c.1804C>A (p.Arg602=)
|
|
|
|
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter)
|
rs1928365677
|
|
|
NM_001184880.2(PCDH19):c.1808_1816del (p.Val603_Tyr605del)
|
rs1928365074
|
|
|
NM_001184880.2(PCDH19):c.1810A>G (p.Thr604Ala)
|
rs1928365372
|
|
|
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter)
|
rs1057521256
|
|
|
NM_001184880.2(PCDH19):c.1815C>T (p.Tyr605=)
|
rs1057521256
|
|
|
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.1836C>T (p.Arg612=)
|
rs756311067
|
|
|
NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)
|
|
|
|
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.1855C>T (p.Gln619Ter)
|
rs796052820
|
|
|
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.1887C>T (p.Thr629=)
|
|
|
|
NM_001184880.2(PCDH19):c.1890C>T (p.Phe630=)
|
rs796052791
|
|
|
NM_001184880.2(PCDH19):c.1891G>C (p.Gly631Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.1891G>T (p.Gly631Trp)
|
rs750599959
|
|
|
NM_001184880.2(PCDH19):c.1894G>T (p.Glu632Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs)
|
rs1928359639
|
|
|
NM_001184880.2(PCDH19):c.1904A>G (p.Lys635Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.1917G>A (p.Glu639=)
|
|
|
|
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro)
|
rs1928358562
|
|
|
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg)
|
rs1928358562
|
|
|
NM_001184880.2(PCDH19):c.1920T>G (p.Leu640=)
|
rs1602635297
|
|
|
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met)
|
rs1221643775
|
|
|
NM_001184880.2(PCDH19):c.1924G>T (p.Val642Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly)
|
rs1602635282
|
|
|
NM_001184880.2(PCDH19):c.1936G>C (p.Asp646His)
|
|
|
|
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu)
|
rs1602635261
|
|
|
NM_001184880.2(PCDH19):c.1942G>A (p.Gly648Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs)
|
rs796052835
|
|
|
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro)
|
rs1928356260
|
|
|
NM_001184880.2(PCDH19):c.1968T>C (p.Ala656=)
|
|
|
|
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe)
|
rs587784296
|
|
|
NM_001184880.2(PCDH19):c.1971C>T (p.Leu657=)
|
|
|
|
NM_001184880.2(PCDH19):c.1973_1999del (p.Val658_Leu666del)
|
|
|
|
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs)
|
rs1928355133
|
|
|
NM_001184880.2(PCDH19):c.1974C>G (p.Val658=)
|
|
|
|
NM_001184880.2(PCDH19):c.1975C>T (p.Leu659=)
|
|
|
|
NM_001184880.2(PCDH19):c.197A>G (p.Asn66Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.1985_1995del (p.Leu662fs)
|
rs2147537315
|
|
|
NM_001184880.2(PCDH19):c.1988C>T (p.Ser663Phe)
|
rs2147537323
|
|
|
NM_001184880.2(PCDH19):c.1992T>G (p.Pro664=)
|
|
|
|
NM_001184880.2(PCDH19):c.1993_1994delinsAA (p.Ala665Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.1995T>C (p.Ala665=)
|
|
|
|
NM_001184880.2(PCDH19):c.1996C>G (p.Leu666Val)
|
rs2147537309
|
|
|
NM_001184880.2(PCDH19):c.2008G>C (p.Glu670Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.2009_2010del (p.Glu670fs)
|
|
|
|
NM_001184880.2(PCDH19):c.200C>G (p.Ser67Trp)
|
rs868762744
|
|
|
NM_001184880.2(PCDH19):c.2012C>A (p.Ser671Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter)
|
rs132630325
|
|
|
NM_001184880.2(PCDH19):c.2023G>A (p.Val675Met)
|
|
|
|
NM_001184880.2(PCDH19):c.2025G>A (p.Val675=)
|
rs2147537254
|
|
|
NM_001184880.2(PCDH19):c.2029T>C (p.Leu677=)
|
rs2147537247
|
|
|
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr)
|
rs1064797379
|
|
|
NM_001184880.2(PCDH19):c.2030T>C (p.Leu677Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs)
|
rs1569314152
|
|
|
NM_001184880.2(PCDH19):c.2037G>A (p.Leu679=)
|
rs1060504503
|
|
|
NM_001184880.2(PCDH19):c.203C>T (p.Ala68Val)
|
rs1928473737
|
|
|
NM_001184880.2(PCDH19):c.2052C>G (p.Ala684=)
|
rs1555984966
|
|
|
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=)
|
rs1555984966
|
|
|
NM_001184880.2(PCDH19):c.2056G>A (p.Gly686Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.2063T>C (p.Ile688Thr)
|
rs2147537200
|
|
|
NM_001184880.2(PCDH19):c.2068G>C (p.Gly690Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.2069del (p.Gly690fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2082A>T (p.Val694=)
|
|
|
|
NM_001184880.2(PCDH19):c.210C>T (p.His70=)
|
|
|
|
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter)
|
rs1928350631
|
|
|
NM_001184880.2(PCDH19):c.211C>A (p.Leu71Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.2130C>G (p.Ile710Met)
|
|
|
|
NM_001184880.2(PCDH19):c.2136C>T (p.Thr712=)
|
rs950694232
|
|
|
NM_001184880.2(PCDH19):c.2139C>A (p.Tyr713Ter)
|
rs1928349391
|
|
|
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2147+12T>C
|
|
|
|
NM_001184880.2(PCDH19):c.2147+1G>T
|
rs1555984947
|
|
|
NM_001184880.2(PCDH19):c.2148-8C>T
|
|
|
|
NM_001184880.2(PCDH19):c.2175C>T (p.Leu725=)
|
rs777049971
|
|
|
NM_001184880.2(PCDH19):c.2181T>C (p.Cys727=)
|
rs2147534431
|
|
|
NM_001184880.2(PCDH19):c.2187A>G (p.Ile729Met)
|
rs1928262563
|
|
|
NM_001184880.2(PCDH19):c.2195A>G (p.Gln732Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.21G>C (p.Pro7=)
|
rs1345525424
|
|
|
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.2263G>T (p.Glu755Ter)
|
rs2147534335
|
|
|
NM_001184880.2(PCDH19):c.2263_2288+1dup
|
rs779136255
|
|
|
NM_001184880.2(PCDH19):c.2266_2273del (p.Lys756fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2274C>A (p.Ser758Arg)
|
rs1928258437
|
|
|
NM_001184880.2(PCDH19):c.2277A>T (p.Leu759=)
|
rs2147534303
|
|
|
NM_001184880.2(PCDH19):c.2288+16C>T
|
|
|
|
NM_001184880.2(PCDH19):c.2288+6A>G
|
rs948910239
|
|
|
NM_001184880.2(PCDH19):c.2288+9G>C
|
|
|
|
NM_001184880.2(PCDH19):c.2289-2A>G
|
rs1928233784
|
|
|
NM_001184880.2(PCDH19):c.2289-4A>G
|
rs2147533541
|
|
|
NM_001184880.2(PCDH19):c.2298G>C (p.Glu766Asp)
|
rs1928233323
|
|
|
NM_001184880.2(PCDH19):c.2301C>T (p.Tyr767=)
|
rs1057524610
|
|
|
NM_001184880.2(PCDH19):c.2302T>C (p.Ser768Pro)
|
|
|
|
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg)
|
rs1036691760
|
|
|
NM_001184880.2(PCDH19):c.2314C>T (p.Gln772Ter)
|
rs1471944316
|
|
|
NM_001184880.2(PCDH19):c.2316A>G (p.Gln772=)
|
|
|
|
NM_001184880.2(PCDH19):c.2319G>T (p.Lys773Asn)
|
rs765066118
|
|
|
NM_001184880.2(PCDH19):c.231C>T (p.Ser77=)
|
rs2147542388
|
|
|
NM_001184880.2(PCDH19):c.2331G>A (p.Lys777=)
|
|
|
|
NM_001184880.2(PCDH19):c.2338A>T (p.Lys780Ter)
|
rs2147533439
|
|
|
NM_001184880.2(PCDH19):c.2339A>T (p.Lys780Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs)
|
rs1060502175
|
|
|
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)
|
rs1060502175
|
|
|
NM_001184880.2(PCDH19):c.2344_2351dup (p.Asn784fs)
|
|
|
|
NM_001184880.2(PCDH19):c.234T>C (p.Ser78=)
|
|
|
|
NM_001184880.2(PCDH19):c.2355C>T (p.Asp785=)
|
|
|
|
NM_001184880.2(PCDH19):c.2360G>A (p.Arg787His)
|
|
|
|
NM_001184880.2(PCDH19):c.2360G>T (p.Arg787Leu)
|
rs371839798
|
|
|
NM_001184880.2(PCDH19):c.2365G>T (p.Val789Leu)
|
rs1928230109
|
|
|
NM_001184880.2(PCDH19):c.2373G>T (p.Arg791=)
|
|
|
|
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.2391_2392del (p.Asp797fs)
|
rs2147533347
|
|
|
NM_001184880.2(PCDH19):c.2392A>G (p.Lys798Glu)
|
rs2147533341
|
|
|
NM_001184880.2(PCDH19):c.2398A>C (p.Asn800His)
|
|
|
|
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs)
|
rs796052836
|
|
|
NM_001184880.2(PCDH19):c.2400C>T (p.Asn800=)
|
rs200756110
|
|
|
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=)
|
rs1555984464
|
|
|
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg)
|
rs1569316056
|
|
|
NM_001184880.2(PCDH19):c.2431C>A (p.Leu811Ile)
|
rs2147533269
|
|
|
NM_001184880.2(PCDH19):c.2435A>G (p.Asn812Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.2445C>T (p.Asp815=)
|
rs1602632552
|
|
|
NM_001184880.2(PCDH19):c.2446T>C (p.Tyr816His)
|
|
|
|
NM_001184880.2(PCDH19):c.2448C>A (p.Tyr816Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.2449dup (p.His817fs)
|
|
|
|
NM_001184880.2(PCDH19):c.244dup (p.Val82fs)
|
rs1928471120
|
|
|
NM_001184880.2(PCDH19):c.2452C>T (p.Gln818Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs)
|
rs1555984453
|
|
|
NM_001184880.2(PCDH19):c.2467C>T (p.Leu823=)
|
|
|
|
NM_001184880.2(PCDH19):c.2470_2474dup (p.Cys825fs)
|
rs1928224021
|
|
|
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.2499G>A (p.Leu833=)
|
rs2147533161
|
|
|
NM_001184880.2(PCDH19):c.249C>G (p.Thr83=)
|
|
|
|
NM_001184880.2(PCDH19):c.2500A>G (p.Asn834Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.2502T>C (p.Asn834=)
|
|
|
|
NM_001184880.2(PCDH19):c.2502del (p.Asn834fs)
|
rs2147533148
|
|
|
NM_001184880.2(PCDH19):c.2504T>C (p.Val835Ala)
|
|
|
|
NM_001184880.2(PCDH19):c.2508G>A (p.Glu836=)
|
|
|
|
NM_001184880.2(PCDH19):c.2512del (p.Gln838fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2522G>T (p.Arg841Leu)
|
rs756818874
|
|
|
NM_001184880.2(PCDH19):c.252del (p.Lys84fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2535T>C (p.Ala845=)
|
rs2147533082
|
|
|
NM_001184880.2(PCDH19):c.2539C>G (p.His847Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter)
|
rs132630324
|
|
|
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg)
|
rs1928470713
|
|
|
NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs)
|
rs1928217668
|
|
|
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs)
|
rs1928217378
|
|
|
NM_001184880.2(PCDH19):c.2558del (p.Phe853fs)
|
rs2147533042
|
|
|
NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu)
|
rs924686008
|
|
|
NM_001184880.2(PCDH19):c.2567dup (p.Pro858fs)
|
rs1928216298
|
|
|
NM_001184880.2(PCDH19):c.256A>T (p.Lys86Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.2571G>A (p.Gly857=)
|
rs1480768621
|
|
|
NM_001184880.2(PCDH19):c.2571G>T (p.Gly857=)
|
rs1480768621
|
|
|
NM_001184880.2(PCDH19):c.2575C>T (p.Gln859Ter)
|
rs2147532974
|
|
|
NM_001184880.2(PCDH19):c.2578C>G (p.Gln860Glu)
|
|
|
|
NM_001184880.2(PCDH19):c.2580G>T (p.Gln860His)
|
rs2147532962
|
|
|
NM_001184880.2(PCDH19):c.2581_2582delinsG (p.Pro861fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2587del (p.Asp862_Leu863insTer)
|
|
|
|
NM_001184880.2(PCDH19):c.2592dup (p.Ile865fs)
|
|
|
|
NM_001184880.2(PCDH19):c.25CTG[5] (p.Leu12_Ala13insLeu)
|
|
|
|
NM_001184880.2(PCDH19):c.2606C>T (p.Pro869Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del)
|
rs1602638228
|
|
|
NM_001184880.2(PCDH19):c.2616+1G>A
|
rs1602632270
|
|
|
NM_001184880.2(PCDH19):c.2617-19T>A
|
|
|
|
NM_001184880.2(PCDH19):c.2617-19T>C
|
|
|
|
NM_001184880.2(PCDH19):c.2617-1G>A
|
rs1602600561
|
|
|
NM_001184880.2(PCDH19):c.2619del (p.Glu874fs)
|
rs2147492697
|
|
|
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs)
|
rs34651888
|
|
|
NM_001184880.2(PCDH19):c.2646C>A (p.Tyr882Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.2646C>G (p.Tyr882Ter)
|
rs770935301
|
|
|
NM_001184880.2(PCDH19):c.2646C>T (p.Tyr882=)
|
|
|
|
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter)
|
rs756414485
|
|
|
NM_001184880.2(PCDH19):c.2659G>A (p.Ala887Thr)
|
rs747735300
|
|
|
NM_001184880.2(PCDH19):c.2662dup (p.His888fs)
|
rs2147492627
|
|
|
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln)
|
rs1602600456
|
|
|
NM_001184880.2(PCDH19):c.2675+1G>T
|
|
|
|
NM_001184880.2(PCDH19):c.2675+2T>C
|
|
|
|
NM_001184880.2(PCDH19):c.2675+7T>C
|
rs1926541351
|
|
|
NM_001184880.2(PCDH19):c.2675G>A (p.Ser892Asn)
|
rs1602600445
|
|
|
NM_001184880.2(PCDH19):c.2676-11C>T
|
|
|
|
NM_001184880.2(PCDH19):c.2676-17T>C
|
|
|
|
NM_001184880.2(PCDH19):c.2676-6A>G
|
rs1602595136
|
|
|
NM_001184880.2(PCDH19):c.2676-8C>A
|
rs1174620986
|
|
|
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His)
|
rs1555985780
|
|
|
NM_001184880.2(PCDH19):c.2694C>T (p.Asp898=)
|
rs754570811
|
|
|
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs)
|
rs1602595101
|
|
|
NM_001184880.2(PCDH19):c.269A>G (p.Asp90Gly)
|
rs2147542320
|
|
|
NM_001184880.2(PCDH19):c.2726A>G (p.His909Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter)
|
rs2147485081
|
|
|
NM_001184880.2(PCDH19):c.2730G>C (p.Glu910Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.2740C>T (p.Gln914Ter)
|
rs1926264984
|
|
|
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs)
|
rs2147542293
|
|
|
NM_001184880.2(PCDH19):c.2754G>T (p.Glu918Asp)
|
rs1926264482
|
|
|
NM_001184880.2(PCDH19):c.2761G>A (p.Val921Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.2764C>T (p.Gln922Ter)
|
rs2147485040
|
|
|
NM_001184880.2(PCDH19):c.2766G>A (p.Gln922=)
|
|
|
|
NM_001184880.2(PCDH19):c.2768G>A (p.Arg923Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.2795A>G (p.Asn932Ser)
|
rs1926262402
|
|
|
NM_001184880.2(PCDH19):c.2823C>T (p.Ser941=)
|
|
|
|
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.2848+1G>A
|
|
|
|
NM_001184880.2(PCDH19):c.2848+7A>G
|
|
|
|
NM_001184880.2(PCDH19):c.2885G>A (p.Arg962Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.2901dup (p.Asp968Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.290C>T (p.Pro97Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.291dup (p.Lys98fs)
|
rs2147542264
|
|
|
NM_001184880.2(PCDH19):c.2921G>A (p.Arg974Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.2929A>G (p.Met977Val)
|
rs2147446474
|
|
|
NM_001184880.2(PCDH19):c.296G>A (p.Cys99Tyr)
|
rs2147542235
|
|
|
NM_001184880.2(PCDH19):c.2974G>A (p.Ala992Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu)
|
rs371109150
|
|
|
NM_001184880.2(PCDH19):c.2977del (p.Leu993fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2979G>C (p.Leu993=)
|
|
|
|
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.3001G>A (p.Asp1001Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.3002A>G (p.Asp1001Gly)
|
rs1924624840
|
|
|
NM_001184880.2(PCDH19):c.3002A>T (p.Asp1001Val)
|
|
|
|
NM_001184880.2(PCDH19):c.300_301del (p.Ile101fs)
|
rs2147542217
|
|
|
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.3051C>T (p.Thr1017=)
|
rs1283188999
|
|
|
NM_001184880.2(PCDH19):c.3057dup (p.Lys1020fs)
|
rs1924620442
|
|
|
NM_001184880.2(PCDH19):c.3062A>G (p.Asp1021Gly)
|
|
|
|
NM_001184880.2(PCDH19):c.3065T>C (p.Val1022Ala)
|
|
|
|
NM_001184880.2(PCDH19):c.3066C>T (p.Val1022=)
|
|
|
|
NM_001184880.2(PCDH19):c.3070G>A (p.Asp1024Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.3073C>T (p.His1025Tyr)
|
rs2147446139
|
|
|
NM_001184880.2(PCDH19):c.3075C>T (p.His1025=)
|
|
|
|
NM_001184880.2(PCDH19):c.3087G>T (p.Glu1029Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.3096C>T (p.Thr1032=)
|
|
|
|
NM_001184880.2(PCDH19):c.309C>T (p.Leu103=)
|
|
|
|
NM_001184880.2(PCDH19):c.30G>A (p.Leu10=)
|
rs2147542972
|
|
|
NM_001184880.2(PCDH19):c.3103G>A (p.Gly1035Ser)
|
rs2147446085
|
|
|
NM_001184880.2(PCDH19):c.3105C>T (p.Gly1035=)
|
|
|
|
NM_001184880.2(PCDH19):c.3114T>C (p.Thr1038=)
|
rs2147446077
|
|
|
NM_001184880.2(PCDH19):c.3115G>A (p.Val1039Ile)
|
rs2147446072
|
|
|
NM_001184880.2(PCDH19):c.3118G>A (p.Asp1040Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe)
|
rs189342249
|
|
|
NM_001184880.2(PCDH19):c.3138C>T (p.Pro1046=)
|
rs2147446027
|
|
|
NM_001184880.2(PCDH19):c.315C>T (p.Val105=)
|
rs1555985739
|
|
|
NM_001184880.2(PCDH19):c.3174C>A (p.Gly1058=)
|
|
|
|
NM_001184880.2(PCDH19):c.317T>A (p.Met106Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs)
|
rs2147445956
|
|
|
NM_001184880.2(PCDH19):c.3196del (p.Thr1066fs)
|
|
|
|
NM_001184880.2(PCDH19):c.31C>T (p.Leu11=)
|
rs775517393
|
|
|
NM_001184880.2(PCDH19):c.3200C>A (p.Ser1067Tyr)
|
|
|
|
NM_001184880.2(PCDH19):c.3203C>G (p.Pro1068Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=)
|
rs377415279
|
|
|
NM_001184880.2(PCDH19):c.3204C>G (p.Pro1068=)
|
|
|
|
NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=)
|
rs377415279
|
|
|
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.3219C>T (p.Ser1073=)
|
|
|
|
NM_001184880.2(PCDH19):c.3221C>G (p.Ser1074Cys)
|
|
|
|
NM_001184880.2(PCDH19):c.3240C>T (p.Ser1080=)
|
|
|
|
NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu)
|
rs774791898
|
|
|
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs)
|
rs1602566823
|
|
|
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.3300T>C (p.Asn1100=)
|
|
|
|
NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser)
|
rs754499060
|
|
|
NM_001184880.2(PCDH19):c.330G>A (p.Met110Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.3324C>T (p.Pro1108=)
|
|
|
|
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.336C>T (p.Ile112=)
|
|
|
|
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.3405A>G (p.Lys1135=)
|
rs1555972516
|
|
|
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser)
|
rs778782448
|
|
|
NM_001184880.2(PCDH19):c.3415G>A (p.Gly1139Ser)
|
rs760947009
|
|
|
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.344_345del (p.Ile115fs)
|
|
|
|
NM_001184880.2(PCDH19):c.357del (p.Lys120fs)
|
|
|
|
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn)
|
rs1214373921
|
|
|
NM_001184880.2(PCDH19):c.360G>T (p.Lys120Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.362A>C (p.Asp121Ala)
|
rs1928463633
|
|
|
NM_001184880.2(PCDH19):c.369C>A (p.Asn123Lys)
|
rs796052796
|
|
|
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys)
|
rs796052796
|
|
|
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His)
|
rs796052797
|
|
|
NM_001184880.2(PCDH19):c.371A>C (p.Asp124Ala)
|
rs2147542056
|
|
|
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser)
|
rs398123603
|
|
|
NM_001184880.2(PCDH19):c.378G>A (p.Ala126=)
|
|
|
|
NM_001184880.2(PCDH19):c.378_379dup (p.Pro127fs)
|
|
|
|
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.384_394del (p.Phe129fs)
|
rs1928462092
|
|
|
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser)
|
rs1602638047
|
|
|
NM_001184880.2(PCDH19):c.3G>A (p.Met1Ile)
|
rs2147543046
|
|
|
NM_001184880.2(PCDH19):c.402C>G (p.Ile134Met)
|
|
|
|
NM_001184880.2(PCDH19):c.403G>T (p.Glu135Ter)
|
rs759398718
|
|
|
NM_001184880.2(PCDH19):c.409G>T (p.Glu137Ter)
|
rs1555985689
|
|
|
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn)
|
rs1602637994
|
|
|
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu)
|
rs1555985687
|
|
|
NM_001184880.2(PCDH19):c.418G>A (p.Glu140Lys)
|
|
|
|
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.437C>G (p.Thr146Arg)
|
rs796052799
|
|
|
NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met)
|
|
|
|
NM_001184880.2(PCDH19):c.438G>A (p.Thr146=)
|
rs776584913
|
|
|
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.445C>G (p.Pro149Ala)
|
rs1928459143
|
|
|
NM_001184880.2(PCDH19):c.445C>T (p.Pro149Ser)
|
rs1928459143
|
|
|
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile)
|
rs863224907
|
|
|
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)
|
rs1569315876
|
|
|
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His)
|
rs796052800
|
|
|
NM_001184880.2(PCDH19):c.471dup (p.Ser158fs)
|
rs1928457666
|
|
|
NM_001184880.2(PCDH19):c.474A>G (p.Ser158=)
|
|
|
|
NM_001184880.2(PCDH19):c.475G>A (p.Gly159Arg)
|
rs2147541809
|
|
|
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.476del (p.Gly159fs)
|
rs1928457396
|
|
|
NM_001184880.2(PCDH19):c.478del (p.Ser160fs)
|
|
|
|
NM_001184880.2(PCDH19):c.487G>A (p.Val163Met)
|
|
|
|
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter)
|
rs1555985639
|
|
|
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter)
|
rs797045873
|
|
|
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del)
|
rs1928454411
|
|
|
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro)
|
rs2147541749
|
|
|
NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe)
|
rs587784297
|
|
|
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)
|
rs796052837
|
|
|
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter)
|
rs796052837
|
|
|
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer)
|
rs2147541733
|
|
|
NM_001184880.2(PCDH19):c.506del (p.Thr169fs)
|
rs2147541704
|
|
|
NM_001184880.2(PCDH19):c.50C>T (p.Thr17Met)
|
|
|
|
NM_001184880.2(PCDH19):c.512dup (p.Asn171fs)
|
|
|
|
NM_001184880.2(PCDH19):c.514G>T (p.Glu172Ter)
|
rs1928454112
|
|
|
NM_001184880.2(PCDH19):c.515del (p.Glu172fs)
|
|
|
|
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=)
|
rs971048873
|
|
|
NM_001184880.2(PCDH19):c.529G>C (p.Glu177Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.52C>T (p.Gln18Ter)
|
rs2147542870
|
|
|
NM_001184880.2(PCDH19):c.533del (p.Ile178fs)
|
rs1928452385
|
|
|
NM_001184880.2(PCDH19):c.534C>G (p.Ile178Met)
|
|
|
|
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter)
|
rs1602637774
|
|
|
NM_001184880.2(PCDH19):c.539C>A (p.Thr180Lys)
|
rs796052803
|
|
|
NM_001184880.2(PCDH19):c.53_62del (p.Gln18fs)
|
rs2147542837
|
|
|
NM_001184880.2(PCDH19):c.540G>T (p.Thr180=)
|
|
|
|
NM_001184880.2(PCDH19):c.543_544del (p.Gly182fs)
|
|
|
|
NM_001184880.2(PCDH19):c.554C>T (p.Ser185Phe)
|
|
|
|
NM_001184880.2(PCDH19):c.564del (p.Glu189fs)
|
rs1928449770
|
|
|
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter)
|
rs1602637696
|
|
|
NM_001184880.2(PCDH19):c.567A>G (p.Glu189=)
|
|
|
|
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.570C>G (p.Leu190=)
|
|
|
|
NM_001184880.2(PCDH19):c.571G>A (p.Val191Met)
|
rs753757730
|
|
|
NM_001184880.2(PCDH19):c.573G>A (p.Val191=)
|
|
|
|
NM_001184880.2(PCDH19):c.574G>A (p.Val192Met)
|
|
|
|
NM_001184880.2(PCDH19):c.577G>T (p.Glu193Ter)
|
rs2147541401
|
|
|
NM_001184880.2(PCDH19):c.581del (p.Lys194fs)
|
rs1928448324
|
|
|
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro)
|
rs1413763025
|
|
|
NM_001184880.2(PCDH19):c.590A>G (p.Asp197Gly)
|
rs2147541373
|
|
|
NM_001184880.2(PCDH19):c.591C>G (p.Asp197Glu)
|
rs374554305
|
|
|
NM_001184880.2(PCDH19):c.592C>G (p.Arg198Gly)
|
rs2147541358
|
|
|
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu)
|
rs772837341
|
|
|
NM_001184880.2(PCDH19):c.594C>A (p.Arg198=)
|
|
|
|
NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.599C>T (p.Thr200Met)
|
|
|
|
NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs)
|
rs2147541270
|
|
|
NM_001184880.2(PCDH19):c.601C>A (p.Gln201Lys)
|
rs2147541289
|
|
|
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro)
|
rs1928446616
|
|
|
NM_001184880.2(PCDH19):c.606G>A (p.Ser202=)
|
|
|
|
NM_001184880.2(PCDH19):c.609C>G (p.His203Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.60C>T (p.Ala20=)
|
rs2147542847
|
|
|
NM_001184880.2(PCDH19):c.612C>A (p.Tyr204Ter)
|
rs1602637608
|
|
|
NM_001184880.2(PCDH19):c.615C>G (p.Ser205Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.615del (p.Phe206fs)
|
rs1928445406
|
|
|
NM_001184880.2(PCDH19):c.617T>A (p.Phe206Tyr)
|
|
|
|
NM_001184880.2(PCDH19):c.618C>T (p.Phe206=)
|
|
|
|
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter)
|
rs796052802
|
|
|
NM_001184880.2(PCDH19):c.619del (p.Arg207fs)
|
rs1555985543
|
|
|
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.626C>A (p.Thr209Asn)
|
rs1928444379
|
|
|
NM_001184880.2(PCDH19):c.636C>G (p.Asp212Glu)
|
rs2147541121
|
|
|
NM_001184880.2(PCDH19):c.636C>T (p.Asp212=)
|
|
|
|
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.648G>A (p.Pro216=)
|
rs996601558
|
|
|
NM_001184880.2(PCDH19):c.653G>C (p.Arg218Pro)
|
rs1210258504
|
|
|
NM_001184880.2(PCDH19):c.659del (p.Gly220fs)
|
rs1928441222
|
|
|
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.667G>C (p.Gly223Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.670del (p.Ser225fs)
|
rs1602637452
|
|
|
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val)
|
rs1248114037
|
|
|
NM_001184880.2(PCDH19):c.678C>T (p.Ile226=)
|
|
|
|
NM_001184880.2(PCDH19):c.679A>T (p.Lys227Ter)
|
rs1928440191
|
|
|
NM_001184880.2(PCDH19):c.681G>A (p.Lys227=)
|
|
|
|
NM_001184880.2(PCDH19):c.687C>T (p.Thr229=)
|
rs1380357181
|
|
|
NM_001184880.2(PCDH19):c.687del (p.Asp230fs)
|
rs1928439511
|
|
|
NM_001184880.2(PCDH19):c.688G>A (p.Asp230Asn)
|
rs1928439241
|
|
|
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala)
|
rs1555985491
|
|
|
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile)
|
rs587784299
|
|
|
NM_001184880.2(PCDH19):c.696T>G (p.Asn232Lys)
|
rs796052807
|
|
|
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp)
|
rs1928438552
|
|
|
NM_001184880.2(PCDH19):c.700AAC[1] (p.Asn235del)
|
rs1928438102
|
|
|
NM_001184880.2(PCDH19):c.701A>C (p.Asn234Thr)
|
rs1555985475
|
|
|
NM_001184880.2(PCDH19):c.703A>T (p.Asn235Tyr)
|
|
|
|
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser)
|
rs1928437614
|
|
|
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg)
|
rs1060502176
|
|
|
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu)
|
rs1060502176
|
|
|
NM_001184880.2(PCDH19):c.714del (p.Phe238fs)
|
rs2147540836
|
|
|
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser)
|
rs1602637358
|
|
|
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter)
|
rs1166554052
|
|
|
NM_001184880.2(PCDH19):c.729C>G (p.Tyr243Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.730G>A (p.Ala244Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.735G>A (p.Val245=)
|
|
|
|
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln)
|
rs1602637340
|
|
|
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
|
|
|
|
NM_001184880.2(PCDH19):c.746A>G (p.Glu249Gly)
|
rs2147540751
|
|
|
NM_001184880.2(PCDH19):c.747A>C (p.Glu249Asp)
|
rs2147540748
|
|
|
NM_001184880.2(PCDH19):c.74T>C (p.Leu25Pro)
|
|
|
|
NM_001184880.2(PCDH19):c.752C>A (p.Ser251Ter)
|
|
|
|
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.765A>G (p.Thr255=)
|
rs2147540684
|
|
|
NM_001184880.2(PCDH19):c.778C>G (p.Leu260Val)
|
|
|
|
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg)
|
rs1928431321
|
|
|
NM_001184880.2(PCDH19):c.783C>T (p.Asn261=)
|
rs1928431100
|
|
|
NM_001184880.2(PCDH19):c.784G>T (p.Ala262Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.786del (p.Ser263fs)
|
|
|
|
NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His)
|
rs587784300
|
|
|
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr)
|
rs587784300
|
|
|
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu)
|
rs373181586
|
|
|
NM_001184880.2(PCDH19):c.793C>T (p.Pro265Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.795A>T (p.Pro265=)
|
rs1602637247
|
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
|
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)
|
rs1057524751
|
|
|
NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter)
|
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.804C>T (p.Gly268=)
|
|
|
|
NM_001184880.2(PCDH19):c.805del (p.Thr269fs)
|
rs796052827
|
|
|
NM_001184880.2(PCDH19):c.807_810dup (p.Gly271fs)
|
rs2147540522
|
|
|
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.810C>T (p.Asn270=)
|
rs2147540518
|
|
|
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.814C>T (p.Gln272Ter)
|
rs794726897
|
|
|
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs)
|
rs1928426655
|
|
|
NM_001184880.2(PCDH19):c.820_847del (p.Val274fs)
|
rs1928424443
|
|
|
NM_001184880.2(PCDH19):c.824A>G (p.Tyr275Cys)
|
rs1928426496
|
|
|
NM_001184880.2(PCDH19):c.826_827del (p.Ser276fs)
|
|
|
|
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del)
|
rs1569315403
|
|
|
NM_001184880.2(PCDH19):c.82T>G (p.Ser28Ala)
|
|
|
|
NM_001184880.2(PCDH19):c.830_832del (p.Phe277del)
|
|
|
|
NM_001184880.2(PCDH19):c.831C>T (p.Phe277=)
|
|
|
|
NM_001184880.2(PCDH19):c.833del (p.Tyr278fs)
|
rs2147540431
|
|
|
NM_001184880.2(PCDH19):c.83C>A (p.Ser28Ter)
|
rs766962106
|
|
|
NM_001184880.2(PCDH19):c.840C>A (p.Tyr280Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.844A>G (p.Asn282Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.84G>A (p.Ser28=)
|
|
|
|
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs)
|
rs1928424117
|
|
|
NM_001184880.2(PCDH19):c.854C>A (p.Thr285Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.854C>T (p.Thr285Met)
|
|
|
|
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter)
|
rs1555985427
|
|
|
NM_001184880.2(PCDH19):c.85del (p.Ser28_Val29insTer)
|
rs1928480582
|
|
|
NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs)
|
|
|
|
NM_001184880.2(PCDH19):c.864C>G (p.Leu288=)
|
rs750350919
|
|
|
NM_001184880.2(PCDH19):c.870G>T (p.Gln290His)
|
|
|
|
NM_001184880.2(PCDH19):c.873C>A (p.Ile291=)
|
|
|
|
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs)
|
rs1555985416
|
|
|
NM_001184880.2(PCDH19):c.879G>C (p.Pro293=)
|
|
|
|
NM_001184880.2(PCDH19):c.882C>T (p.His294=)
|
rs2147540267
|
|
|
NM_001184880.2(PCDH19):c.883_886dup (p.Gly296fs)
|
rs2147540245
|
|
|
NM_001184880.2(PCDH19):c.883del (p.Ser295fs)
|
rs2147540261
|
|
|
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val)
|
rs1459520904
|
|
|
NM_001184880.2(PCDH19):c.88G>A (p.Glu30Lys)
|
rs931969825
|
|
|
NM_001184880.2(PCDH19):c.891G>A (p.Leu297=)
|
|
|
|
NM_001184880.2(PCDH19):c.899T>C (p.Val300Ala)
|
rs1555985398
|
|
|
NM_001184880.2(PCDH19):c.8C>A (p.Ser3Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile)
|
rs1928420254
|
|
|
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter)
|
rs1569315231
|
|
|
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys)
|
rs1569315225
|
|
|
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys)
|
rs796052794
|
|
|
NM_001184880.2(PCDH19):c.92_95dup (p.Gln33fs)
|
rs2147542719
|
|
|
NM_001184880.2(PCDH19):c.930C>T (p.His310=)
|
|
|
|
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter)
|
rs1602636952
|
|
|
NM_001184880.2(PCDH19):c.940C>A (p.Leu314Met)
|
|
|
|
NM_001184880.2(PCDH19):c.949C>G (p.Gln317Glu)
|
|
|
|
NM_001184880.2(PCDH19):c.949C>T (p.Gln317Ter)
|
rs2147540086
|
|
|
NM_001184880.2(PCDH19):c.957G>A (p.Lys319=)
|
|
|
|
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.959A>T (p.Asp320Val)
|
rs1602636925
|
|
|
NM_001184880.2(PCDH19):c.966G>A (p.Gly322=)
|
|
|
|
NM_001184880.2(PCDH19):c.967C>A (p.Pro323Thr)
|
rs2147540049
|
|
|
NM_001184880.2(PCDH19):c.967C>T (p.Pro323Ser)
|
rs2147540049
|
|
|
NM_001184880.2(PCDH19):c.971del (p.Asn324fs)
|
|
|
|
NM_001184880.2(PCDH19):c.973_974del (p.Ser325fs)
|
|
|
|
NM_001184880.2(PCDH19):c.979C>T (p.Pro327Ser)
|
rs1928416253
|
|
|
NM_001184880.2(PCDH19):c.97C>T (p.Gln33Ter)
|
rs1928479952
|
|
|
NM_001184880.2(PCDH19):c.986_987del (p.His329fs)
|
|
|
|
NM_001184880.2(PCDH19):c.98_102del (p.Gln33fs)
|
|
|
|
NM_001184880.2(PCDH19):c.994G>A (p.Val332Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.994del (p.Val332fs)
|
rs1569315156
|
|
|
NM_001184880.2(PCDH19):c.999del (p.Val334fs)
|
|
|
|
NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del
|
|
|
|
NM_001353921.2(ARHGEF9):c.1009C>G (p.Gln337Glu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1016A>G (p.Tyr339Cys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1020C>T (p.Gly340=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1022G>T (p.Arg341Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1025A>G (p.Asn342Ser)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1029G>A (p.Gln343=)
|
rs2049510920
|
|
|
NM_001353921.2(ARHGEF9):c.1030C>T (p.Gln344Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp)
|
rs869312941
|
|
|
NM_001353921.2(ARHGEF9):c.1049T>G (p.Phe350Cys)
|
rs2147265726
|
|
|
NM_001353921.2(ARHGEF9):c.1056C>T (p.His352=)
|
rs370689173
|
|
|
NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1077+10C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1077+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.1077+19T>G
|
rs2147265464
|
|
|
NM_001353921.2(ARHGEF9):c.1077+5C>T
|
rs2049507995
|
|
|
NM_001353921.2(ARHGEF9):c.1077+7C>G
|
rs2147265578
|
|
|
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=)
|
rs1556347185
|
|
|
NM_001353921.2(ARHGEF9):c.1078-11_1078-8del
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-13C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-18C>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-18C>T
|
rs781901799
|
|
|
NM_001353921.2(ARHGEF9):c.1078-3T>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.1095C>T (p.Asp365=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His)
|
rs2048831313
|
|
|
NM_001353921.2(ARHGEF9):c.1122C>T (p.Asp374=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1126G>T (p.Asp376Tyr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1126_1128dup (p.Asp376dup)
|
rs2048830256
|
|
|
NM_001353921.2(ARHGEF9):c.1144G>A (p.Asp382Asn)
|
rs2048829340
|
|
|
NM_001353921.2(ARHGEF9):c.1149T>G (p.Ile383Met)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1150G>T (p.Glu384Ter)
|
rs2147218558
|
|
|
NM_001353921.2(ARHGEF9):c.1157G>A (p.Gly386Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1158C>A (p.Gly386=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.117C>G (p.Gly39=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.117C>T (p.Gly39=)
|
|
|
|
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.1203T>G (p.Leu401=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1206C>T (p.His402=)
|
|
|
|
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.1233G>A (p.Leu411=)
|
rs2147218180
|
|
|
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.1251G>A (p.Leu417=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.126C>T (p.Ile42=)
|
rs2147624145
|
|
|
NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu)
|
rs1569441733
|
|
|
NM_001353921.2(ARHGEF9):c.1300G>T (p.Val434Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)
|
rs1602253296
|
|
|
NM_001353921.2(ARHGEF9):c.1321+16G>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1321+18A>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.1321+5G>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1322-10T>C
|
rs2147143891
|
|
|
NM_001353921.2(ARHGEF9):c.1322-10del
|
|
|
|
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.1351C>T (p.Gln451Ter)
|
|
|
|
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.1390+13C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1391-14C>A
|
|
|
|
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.1423dup (p.Tyr475fs)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1435C>T (p.Gln479Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1442C>T (p.Pro481Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1443G>T (p.Pro481=)
|
|
|
|
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.1469C>T (p.Pro490Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1470C>T (p.Pro490=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu)
|
rs374753195
|
|
|
NM_001353921.2(ARHGEF9):c.1473C>T (p.Asp491=)
|
rs374753195
|
|
|
NM_001353921.2(ARHGEF9):c.1492G>A (p.Val498Ile)
|
rs2147114206
|
|
|
NM_001353921.2(ARHGEF9):c.1497T>C (p.Phe499=)
|
|
|
|
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.1548C>T (p.Ser516=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1551G>A (p.Arg517=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1561T>C (p.Phe521Leu)
|
rs2047401810
|
|
|
NM_001353921.2(ARHGEF9):c.166C>A (p.Gln56Lys)
|
rs781823638
|
|
|
NM_001353921.2(ARHGEF9):c.172G>A (p.Asp58Asn)
|
|
|
|
NM_001353921.2(ARHGEF9):c.172G>C (p.Asp58His)
|
rs374489713
|
|
|
NM_001353921.2(ARHGEF9):c.174C>T (p.Asp58=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter)
|
rs1602577529
|
|
|
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala)
|
rs121918361
|
|
|
NM_001353921.2(ARHGEF9):c.198C>T (p.Ala66=)
|
rs1602577401
|
|
|
NM_001353921.2(ARHGEF9):c.1A>G (p.Met1Val)
|
rs2147835608
|
|
|
NM_001353921.2(ARHGEF9):c.211-13C>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.219G>A (p.Val73=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.227A>G (p.Glu76Gly)
|
|
|
|
NM_001353921.2(ARHGEF9):c.234G>A (p.Glu78=)
|
rs868932053
|
|
|
NM_001353921.2(ARHGEF9):c.240G>T (p.Glu80Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.243G>A (p.Glu81=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.248C>A (p.Pro83His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.249C>T (p.Pro83=)
|
rs2147508633
|
|
|
NM_001353921.2(ARHGEF9):c.24G>C (p.Ser8=)
|
rs1413001108
|
|
|
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.270C>T (p.His90=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.271C>A (p.Leu91Met)
|
|
|
|
NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser)
|
rs886044863
|
|
|
NM_001353921.2(ARHGEF9):c.285A>G (p.Ser95=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.296G>C (p.Cys99Ser)
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+10T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+16C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+1G>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+9A>C
|
rs2147835548
|
|
|
NM_001353921.2(ARHGEF9):c.304C>T (p.Arg102Trp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.308C>A (p.Pro103Gln)
|
|
|
|
NM_001353921.2(ARHGEF9):c.309A>G (p.Pro103=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-29577C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-29579C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-29588A>G
|
rs2055839126
|
|
|
NM_001353921.2(ARHGEF9):c.31-29588_31-29587del
|
rs782126971
|
|
|
NM_001353921.2(ARHGEF9):c.31-5C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-6C>T
|
|
|
|
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.332G>A (p.Arg111Gln)
|
rs1556401714
|
|
|
NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs)
|
|
|
|
NM_001353921.2(ARHGEF9):c.336C>T (p.Ala112=)
|
rs2147507989
|
|
|
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His)
|
rs868956996
|
|
|
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter)
|
rs2052539418
|
|
|
NM_001353921.2(ARHGEF9):c.384C>T (p.His128=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.402+15T>C
|
rs2147507524
|
|
|
NM_001353921.2(ARHGEF9):c.402+1G>A
|
rs2052538764
|
|
|
NM_001353921.2(ARHGEF9):c.402+1G>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.402+20T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.402+8T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-12C>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-17T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-3C>T
|
rs1602447219
|
|
|
NM_001353921.2(ARHGEF9):c.411G>A (p.Leu137=)
|
rs2147451122
|
|
|
NM_001353921.2(ARHGEF9):c.414G>A (p.Lys138=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.419G>A (p.Cys140Tyr)
|
|
|
|
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.4C>T (p.Gln2Ter)
|
rs397514460
|
|
|
NM_001353921.2(ARHGEF9):c.503G>A (p.Gly168Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.519G>A (p.Leu173=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.536A>G (p.Asn179Ser)
|
rs2051813469
|
|
|
NM_001353921.2(ARHGEF9):c.544C>T (p.Pro182Ser)
|
rs2051812917
|
|
|
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys)
|
rs1602446549
|
|
|
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg)
|
rs1556389083
|
|
|
NM_001353921.2(ARHGEF9):c.564A>G (p.Gly188=)
|
rs782187939
|
|
|
NM_001353921.2(ARHGEF9):c.569G>A (p.Cys190Tyr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly)
|
rs1556388997
|
|
|
NM_001353921.2(ARHGEF9):c.582+10T>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.582+10_582+14del
|
rs1556388923
|
|
|
NM_001353921.2(ARHGEF9):c.582+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.582+1G>A
|
rs1569476483
|
|
|
NM_001353921.2(ARHGEF9):c.583-11dup
|
rs782366734
|
|
|
NM_001353921.2(ARHGEF9):c.583-13del
|
|
|
|
NM_001353921.2(ARHGEF9):c.583-17T>G
|
rs2147334936
|
|
|
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.653T>C (p.Leu218Pro)
|
|
|
|
NM_001353921.2(ARHGEF9):c.660G>A (p.Lys220=)
|
rs2147334626
|
|
|
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.735C>T (p.Phe245=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer)
|
rs2050407403
|
|
|
NM_001353921.2(ARHGEF9):c.747A>G (p.Pro249=)
|
rs369716500
|
|
|
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.775C>T (p.Gln259Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser)
|
rs782497496
|
|
|
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.813_814del (p.His271fs)
|
|
|
|
NM_001353921.2(ARHGEF9):c.815+10C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.815+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.815+5G>C
|
rs56239759
|
|
|
NM_001353921.2(ARHGEF9):c.815+5G>T
|
rs56239759
|
|
|
NM_001353921.2(ARHGEF9):c.815+8A>G
|
rs1464003224
|
|
|
NM_001353921.2(ARHGEF9):c.815+8A>T
|
rs1464003224
|
|
|
NM_001353921.2(ARHGEF9):c.816-10G>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.816-12_816-11del
|
rs781845457
|
|
|
NM_001353921.2(ARHGEF9):c.816-9T>C
|
rs1057522347
|
|
|
NM_001353921.2(ARHGEF9):c.880C>T (p.Arg294Cys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.886C>A (p.Arg296=)
|
rs1135401795
|
|
|
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter)
|
rs1135401795
|
|
|
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys)
|
rs2050115619
|
|
|
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.915T>C (p.Ala305=)
|
rs782362648
|
|
|
NM_001353921.2(ARHGEF9):c.91A>G (p.Asn31Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter)
|
rs1556358991
|
|
|
NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter)
|
rs1569458475
|
|
|
NM_001353921.2(ARHGEF9):c.924G>C (p.Gln308His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)
|
|
|
|
NM_001353921.2(ARHGEF9):c.942G>A (p.Trp314Ter)
|
rs2147307979
|
|
|
NM_001353921.2(ARHGEF9):c.944A>C (p.Glu315Ala)
|
rs2147307964
|
|
|
NM_001353921.2(ARHGEF9):c.945+5G>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=)
|
rs2050112328
|
|
|
NM_001353921.2(ARHGEF9):c.946-13A>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.946-17T>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.946-18A>G
|
|
|
|
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_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu)
|
rs1602300014
|
|
|
NM_001353921.2(ARHGEF9):c.982_983dup (p.Gly330fs)
|
rs2147266023
|
|
|
Single allele
|
|
|