NM_001427.4(EN2):c.686-921T>C
|
rs1861973
|
0.72609
|
NM_001427.4(EN2):c.686-1073G>A
|
rs1861972
|
0.72174
|
NM_000245.4(MET):c.-207=
|
rs1858830
|
0.60080
|
NM_006708.3(GLO1):c.332A>C (p.Glu111Ala)
|
rs4746
|
0.37595
|
NM_001110792.2(MECP2):c.*2956G>A
|
rs267608358
|
0.00342
|
NM_001110792.2(MECP2):c.*2657G>A
|
rs3027921
|
0.00301
|
NM_001110792.2(MECP2):c.*544G>A
|
rs183349022
|
0.00200
|
NM_001110792.2(MECP2):c.*861T>G
|
rs187614438
|
0.00196
|
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)
|
rs148453565
|
0.00151
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln)
|
rs55968949
|
0.00093
|
NM_001110792.2(MECP2):c.*554G>A
|
rs267608353
|
0.00083
|
NM_001110792.2(MECP2):c.*371G>C
|
rs187851059
|
0.00062
|
NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met)
|
rs137924687
|
0.00059
|
NM_001110792.2(MECP2):c.*1368C>A
|
rs267608355
|
0.00050
|
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His)
|
rs138738227
|
0.00048
|
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His)
|
rs201604061
|
0.00036
|
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr)
|
rs767821521
|
0.00033
|
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)
|
rs371839994
|
0.00030
|
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val)
|
rs147324438
|
0.00027
|
NM_001110792.2(MECP2):c.*5348T>C
|
rs267608346
|
0.00025
|
NM_001170629.2(CHD8):c.4921+5G>A
|
rs377595194
|
0.00020
|
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)
|
rs553367989
|
0.00019
|
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys)
|
rs141064983
|
0.00019
|
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr)
|
rs371691712
|
0.00016
|
NM_018196.4(TMLHE):c.278G>A (p.Arg93His)
|
rs145371120
|
0.00016
|
NM_181332.3(NLGN4X):c.2360C>T (p.Thr787Met)
|
rs4995611
|
0.00016
|
NM_001110792.2(MECP2):c.*2556T>A
|
rs267608356
|
0.00014
|
NM_001110792.2(MECP2):c.*3658C>T
|
rs267608359
|
0.00010
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala)
|
rs63485860
|
0.00009
|
NM_001170629.2(CHD8):c.7117A>G (p.Lys2373Glu)
|
rs374435577
|
0.00009
|
NM_014141.6(CNTNAP2):c.2096C>A (p.Pro699Gln)
|
rs764412489
|
0.00009
|
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His)
|
rs374739970
|
0.00009
|
NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met)
|
rs771028883
|
0.00007
|
NM_014141.6(CNTNAP2):c.1033G>A (p.Val345Ile)
|
rs145832489
|
0.00006
|
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn)
|
rs144003410
|
0.00006
|
NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val)
|
rs369254596
|
0.00006
|
NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys)
|
rs367664952
|
0.00006
|
NM_014141.6(CNTNAP2):c.436G>A (p.Val146Ile)
|
rs781338949
|
0.00006
|
NM_001110792.2(MECP2):c.*177G>C
|
rs267608345
|
0.00005
|
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)
|
rs145790362
|
0.00005
|
NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr)
|
rs150530671
|
0.00005
|
NM_014141.6(CNTNAP2):c.3271C>G (p.Leu1091Val)
|
rs756994633
|
0.00005
|
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln)
|
rs189731792
|
0.00005
|
NM_001110792.2(MECP2):c.*767G>T
|
rs267608354
|
0.00004
|
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)
|
rs61750239
|
0.00004
|
NM_012309.5(SHANK2):c.4313T>C (p.Val1438Ala)
|
rs781890061
|
0.00004
|
NM_012309.5(SHANK2):c.4456G>A (p.Val1486Ile)
|
rs781958792
|
0.00004
|
NM_012309.5(SHANK2):c.790G>A (p.Gly264Ser)
|
rs374476702
|
0.00004
|
NM_014141.6(CNTNAP2):c.3716-6C>G
|
rs77025884
|
0.00004
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
NM_001170629.2(CHD8):c.6131G>A (p.Arg2044Gln)
|
rs370062980
|
0.00003
|
NM_014141.6(CNTNAP2):c.1337A>G (p.Asp446Gly)
|
rs753860243
|
0.00003
|
NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser)
|
rs370517200
|
0.00003
|
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly)
|
rs587780320
|
0.00003
|
NM_014141.6(CNTNAP2):c.676C>A (p.Leu226Met)
|
rs372345438
|
0.00003
|
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)
|
rs786204313
|
0.00002
|
NM_001110792.2(MECP2):c.413+18C>G
|
rs267608461
|
0.00002
|
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)
|
rs61748427
|
0.00002
|
NM_001170629.2(CHD8):c.2650A>G (p.Met884Val)
|
rs373072733
|
0.00002
|
NM_001170629.2(CHD8):c.314C>T (p.Pro105Leu)
|
rs1889555015
|
0.00002
|
NM_001170629.2(CHD8):c.5909C>G (p.Ala1970Gly)
|
rs770184277
|
0.00002
|
NM_014141.6(CNTNAP2):c.324T>C (p.Asp108=)
|
rs756947754
|
0.00002
|
NM_018196.4(TMLHE):c.491C>T (p.Ser164Leu)
|
rs369612445
|
0.00002
|
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val)
|
rs150900180
|
0.00001
|
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser)
|
rs61748414
|
0.00001
|
NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu)
|
rs746163664
|
0.00001
|
NM_001170629.2(CHD8):c.1315C>T (p.His439Tyr)
|
rs565918098
|
0.00001
|
NM_001170629.2(CHD8):c.1351A>G (p.Arg451Gly)
|
rs1435998081
|
0.00001
|
NM_001170629.2(CHD8):c.1478G>A (p.Arg493Gln)
|
rs755646683
|
0.00001
|
NM_001170629.2(CHD8):c.1899+5G>A
|
rs1555316496
|
0.00001
|
NM_001170629.2(CHD8):c.3331G>C (p.Glu1111Gln)
|
rs970353812
|
0.00001
|
NM_001170629.2(CHD8):c.412G>C (p.Val138Leu)
|
rs767023297
|
0.00001
|
NM_001170629.2(CHD8):c.5372G>A (p.Arg1791Gln)
|
rs370298280
|
0.00001
|
NM_001170629.2(CHD8):c.635G>A (p.Arg212Gln)
|
rs771587494
|
0.00001
|
NM_001170629.2(CHD8):c.7079G>A (p.Arg2360His)
|
rs1887513652
|
0.00001
|
NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu)
|
rs967570036
|
0.00001
|
NM_012309.5(SHANK2):c.1854-19C>T
|
rs1228203963
|
0.00001
|
NM_012309.5(SHANK2):c.2668C>G (p.Pro890Ala)
|
rs782309898
|
0.00001
|
NM_012309.5(SHANK2):c.744+8C>T
|
rs529300603
|
0.00001
|
NM_012309.5(SHANK2):c.844G>A (p.Glu282Lys)
|
rs548275131
|
0.00001
|
NM_014141.6(CNTNAP2):c.3010G>A (p.Asp1004Asn)
|
rs748508785
|
0.00001
|
NM_014141.6(CNTNAP2):c.3047G>A (p.Arg1016Gln)
|
rs143879959
|
0.00001
|
NM_014141.6(CNTNAP2):c.3106G>A (p.Ala1036Thr)
|
rs545175315
|
0.00001
|
NM_014141.6(CNTNAP2):c.3289C>T (p.Pro1097Ser)
|
rs200823464
|
0.00001
|
NM_173495.3(PTCHD1):c.115C>T (p.Leu39Phe)
|
rs763356514
|
0.00001
|
NM_173495.3(PTCHD1):c.448G>A (p.Val150Met)
|
rs747642714
|
0.00001
|
NM_173653.4(SLC9A9):c.1268G>A (p.Arg423Gln)
|
rs368254745
|
0.00001
|
NM_181332.3(NLGN4X):c.2084C>T (p.Ala695Val)
|
rs1200279731
|
0.00001
|
NM_181332.3(NLGN4X):c.2294G>A (p.Arg765His)
|
rs1323836608
|
0.00001
|
NM_001110792.2(MECP2):c.*204G>A
|
rs267608352
|
|
NM_001110792.2(MECP2):c.*2706G>A
|
rs267608357
|
|
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg)
|
rs61752976
|
|
NM_001110792.2(MECP2):c.413+6_413+9del
|
rs267608459
|
|
NM_001110792.2(MECP2):c.564del (p.Lys189fs)
|
|
|
NM_001110792.2(MECP2):c.578C>T (p.Ala193Val)
|
rs61749705
|
|
NM_001110792.2(MECP2):c.63-55G>A
|
rs267608414
|
|
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
|
|
|
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)
|
rs61751370
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001110792.2(MECP2):c.991G>A (p.Val331Met)
|
rs1569548388
|
|
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met)
|
rs753886912
|
|
NM_001170629.2(CHD8):c.1745G>A (p.Arg582Gln)
|
|
|
NM_001170629.2(CHD8):c.1811T>C (p.Val604Ala)
|
|
|
NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg)
|
rs1888694098
|
|
NM_001170629.2(CHD8):c.1910G>A (p.Ser637Asn)
|
|
|
NM_001170629.2(CHD8):c.2070G>A (p.Lys690=)
|
|
|
NM_001170629.2(CHD8):c.2105A>G (p.Lys702Arg)
|
|
|
NM_001170629.2(CHD8):c.2226+3G>T
|
rs2139492445
|
|
NM_001170629.2(CHD8):c.2263C>T (p.Pro755Ser)
|
|
|
NM_001170629.2(CHD8):c.2659A>G (p.Ile887Val)
|
|
|
NM_001170629.2(CHD8):c.2764G>A (p.Ala922Thr)
|
rs1013103711
|
|
NM_001170629.2(CHD8):c.2993A>G (p.Gln998Arg)
|
rs765569494
|
|
NM_001170629.2(CHD8):c.3052-11A>G
|
rs1888218188
|
|
NM_001170629.2(CHD8):c.3389G>A (p.Arg1130His)
|
|
|
NM_001170629.2(CHD8):c.3479G>A (p.Arg1160His)
|
|
|
NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp)
|
rs752288417
|
|
NM_001170629.2(CHD8):c.4214C>T (p.Thr1405Met)
|
|
|
NM_001170629.2(CHD8):c.4285C>T (p.Arg1429Trp)
|
|
|
NM_001170629.2(CHD8):c.4592G>A (p.Arg1531His)
|
rs192277407
|
|
NM_001170629.2(CHD8):c.5275A>T (p.Ser1759Cys)
|
|
|
NM_001170629.2(CHD8):c.5659C>G (p.Leu1887Val)
|
rs369825360
|
|
NM_001170629.2(CHD8):c.5749G>A (p.Gly1917Ser)
|
rs1887663294
|
|
NM_001170629.2(CHD8):c.5837A>C (p.Asp1946Ala)
|
|
|
NM_001170629.2(CHD8):c.5894T>A (p.Met1965Lys)
|
|
|
NM_001170629.2(CHD8):c.596A>C (p.Lys199Thr)
|
|
|
NM_001170629.2(CHD8):c.6060G>C (p.Glu2020Asp)
|
|
|
NM_001170629.2(CHD8):c.6077T>C (p.Leu2026Pro)
|
|
|
NM_001170629.2(CHD8):c.6122A>G (p.Tyr2041Cys)
|
|
|
NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del)
|
rs150254629
|
|
NM_001170629.2(CHD8):c.637C>T (p.Pro213Ser)
|
|
|
NM_001170629.2(CHD8):c.639A>C (p.Pro213=)
|
rs2139539459
|
|
NM_001170629.2(CHD8):c.6403G>A (p.Gly2135Arg)
|
|
|
NM_001170629.2(CHD8):c.6496C>T (p.Leu2166Phe)
|
rs773908554
|
|
NM_001170629.2(CHD8):c.6532_6534del (p.Ser2179del)
|
|
|
NM_001170629.2(CHD8):c.6601C>T (p.Pro2201Ser)
|
|
|
NM_001170629.2(CHD8):c.6795C>T (p.Phe2265=)
|
|
|
NM_001170629.2(CHD8):c.6853AAG[2] (p.Lys2287del)
|
rs755776815
|
|
NM_001170629.2(CHD8):c.7182+1G>A
|
|
|
NM_001170629.2(CHD8):c.7287G>A (p.Met2429Ile)
|
|
|
NM_001170629.2(CHD8):c.7533G>C (p.Leu2511Phe)
|
|
|
NM_001170629.2(CHD8):c.7620_7631dup (p.Asp2543_Glu2544insAspAspGluAsp)
|
|
|
NM_001170629.2(CHD8):c.7724C>T (p.Ser2575Phe)
|
|
|
NM_001170629.2(CHD8):c.899A>C (p.Gln300Pro)
|
|
|
NM_001282874.2(SMARCA1):c.3068T>C (p.Ile1023Thr)
|
|
|
NM_005334.3(HCFC1):c.1456G>C (p.Val486Leu)
|
|
|
NM_005334.3(HCFC1):c.1583C>T (p.Pro528Leu)
|
rs2148586729
|
|
NM_006013.5(RPL10):c.214G>A (p.Ala72Thr)
|
|
|
NM_006593.4(TBR1):c.1155C>A (p.Asn385Lys)
|
rs762713626
|
|
NM_006593.4(TBR1):c.1175G>A (p.Arg392Gln)
|
|
|
NM_006593.4(TBR1):c.1191-5C>A
|
rs1412546585
|
|
NM_006593.4(TBR1):c.1271G>A (p.Arg424His)
|
|
|
NM_006593.4(TBR1):c.1370C>G (p.Thr457Arg)
|
|
|
NM_006593.4(TBR1):c.164T>C (p.Ile55Thr)
|
|
|
NM_006593.4(TBR1):c.1709C>T (p.Ala570Val)
|
|
|
NM_006593.4(TBR1):c.1771G>A (p.Ala591Thr)
|
|
|
NM_006593.4(TBR1):c.1816C>A (p.Pro606Thr)
|
rs1684280120
|
|
NM_006593.4(TBR1):c.1948A>G (p.Ser650Gly)
|
rs1684282566
|
|
NM_006593.4(TBR1):c.1952C>T (p.Ser651Leu)
|
|
|
NM_006593.4(TBR1):c.2047T>G (p.Ter683Glu)
|
|
|
NM_006593.4(TBR1):c.251C>G (p.Ser84Cys)
|
|
|
NM_006593.4(TBR1):c.284A>G (p.His95Arg)
|
rs2105278281
|
|
NM_006593.4(TBR1):c.287G>A (p.Ser96Asn)
|
|
|
NM_006593.4(TBR1):c.358C>T (p.Pro120Ser)
|
rs1559059936
|
|
NM_006593.4(TBR1):c.559G>C (p.Ala187Pro)
|
|
|
NM_006593.4(TBR1):c.592G>C (p.Gly198Arg)
|
rs764392292
|
|
NM_006593.4(TBR1):c.661C>A (p.Gln221Lys)
|
|
|
NM_006593.4(TBR1):c.73C>A (p.Pro25Thr)
|
rs757176020
|
|
NM_006593.4(TBR1):c.748T>C (p.Tyr250His)
|
|
|
NM_006593.4(TBR1):c.842T>C (p.Val281Ala)
|
|
|
NM_006593.4(TBR1):c.853C>G (p.Arg285Gly)
|
rs754584509
|
|
NM_006593.4(TBR1):c.913T>C (p.Ser305Pro)
|
|
|
NM_012309.5(SHANK2):c.1174+30434A>C
|
rs2135521960
|
|
NM_012309.5(SHANK2):c.162del (p.Asn55fs)
|
|
|
NM_012309.5(SHANK2):c.2308+1G>A
|
rs2135811944
|
|
NM_012309.5(SHANK2):c.2333C>G (p.Ala778Gly)
|
rs1555156140
|
|
NM_012309.5(SHANK2):c.2531T>C (p.Met844Thr)
|
|
|
NM_012309.5(SHANK2):c.3266G>A (p.Arg1089His)
|
rs781863842
|
|
NM_012309.5(SHANK2):c.3454dup (p.Glu1152fs)
|
rs1565529155
|
|
NM_012309.5(SHANK2):c.3704A>G (p.Lys1235Arg)
|
rs1591488559
|
|
NM_012309.5(SHANK2):c.4925C>T (p.Pro1642Leu)
|
rs1555152736
|
|
NM_012309.5(SHANK2):c.729C>A (p.Asn243Lys)
|
rs1951573835
|
|
NM_012309.5(SHANK2):c.993dup (p.Asn332fs)
|
|
|
NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu)
|
rs377627481
|
|
NM_014141.6(CNTNAP2):c.1998C>A (p.Ser666Arg)
|
rs759797092
|
|
NM_014141.6(CNTNAP2):c.2945A>G (p.Glu982Gly)
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rs752419100
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NM_014141.6(CNTNAP2):c.2955C>A (p.His985Gln)
|
rs138257598
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NM_014141.6(CNTNAP2):c.3076G>A (p.Ala1026Thr)
|
rs796052382
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NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser)
|
rs727503878
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NM_014141.6(CNTNAP2):c.3862C>T (p.Arg1288Cys)
|
rs138661307
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NM_014141.6(CNTNAP2):c.875T>A (p.Leu292Gln)
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rs1801102530
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NM_018196.4(TMLHE):c.523G>A (p.Glu175Lys)
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NM_018196.4(TMLHE):c.638+83_995+2127del
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NM_018196.4(TMLHE):c.6G>T (p.Trp2Cys)
|
rs782121512
|
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NM_173495.3(PTCHD1):c.113T>A (p.Leu38Gln)
|
rs1135401941
|
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NM_173495.3(PTCHD1):c.1256C>G (p.Ser419Trp)
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|
NM_173495.3(PTCHD1):c.1435G>A (p.Glu479Lys)
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NM_173495.3(PTCHD1):c.145GAG[1] (p.Glu50del)
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NM_173495.3(PTCHD1):c.1786C>T (p.Arg596Trp)
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NM_173495.3(PTCHD1):c.1975GAA[1] (p.Glu660del)
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NM_173495.3(PTCHD1):c.2186T>A (p.Leu729His)
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NM_173495.3(PTCHD1):c.458T>C (p.Ile153Thr)
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NM_173495.3(PTCHD1):c.47G>A (p.Arg16Gln)
|
rs1921121432
|
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NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)
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NM_173495.3(PTCHD1):c.907G>A (p.Gly303Arg)
|
rs1060499615
|
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NM_173495.3(PTCHD1):c.95C>T (p.Pro32Leu)
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|
NM_173653.4(SLC9A9):c.119del (p.Leu40fs)
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NM_173653.4(SLC9A9):c.1203+1G>A
|
rs2035814212
|
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NM_173653.4(SLC9A9):c.1380G>T (p.Met460Ile)
|
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NM_181303.2(NLGN3):c.1384G>A (p.Ala462Thr)
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NM_181303.2(NLGN3):c.163C>T (p.Arg55Ter)
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|
|
NM_181303.2(NLGN3):c.707A>G (p.Asn236Ser)
|
rs2092405042
|
|
NM_181303.2(NLGN3):c.806G>A (p.Ser269Asn)
|
rs2092439435
|
|
NM_181332.3(NLGN4X):c.1309C>T (p.Arg437Trp)
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NM_181332.3(NLGN4X):c.1614A>C (p.Gln538His)
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NM_181332.3(NLGN4X):c.1661T>C (p.Phe554Ser)
|
rs1601840441
|
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NM_181332.3(NLGN4X):c.187C>A (p.Pro63Thr)
|
rs150566193
|
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NM_181332.3(NLGN4X):c.2080G>A (p.Ala694Thr)
|
rs2031290322
|
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NM_181332.3(NLGN4X):c.2259G>C (p.Arg753Ser)
|
rs886042929
|
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NM_181332.3(NLGN4X):c.2428G>A (p.Gly810Arg)
|
rs1181689310
|
|
NM_181332.3(NLGN4X):c.872A>G (p.Tyr291Cys)
|
rs2032034964
|
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