NM_012309.5(SHANK2):c.1706G>A (p.Arg569His)
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rs146580493
|
0.00779
|
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His)
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rs117843717
|
0.00410
|
NM_012309.5(SHANK2):c.4991T>C (p.Ile1664Thr)
|
rs150857128
|
0.00372
|
NM_012309.5(SHANK2):c.168G>A (p.Thr56=)
|
rs150944234
|
0.00325
|
NM_012309.5(SHANK2):c.5151G>A (p.Met1717Ile)
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rs140134890
|
0.00285
|
NM_012309.5(SHANK2):c.51C>T (p.Ser17=)
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rs376267466
|
0.00265
|
NM_012309.5(SHANK2):c.4287T>C (p.Ala1429=)
|
rs116984460
|
0.00147
|
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln)
|
rs55968949
|
0.00093
|
NM_012309.5(SHANK2):c.4757C>T (p.Pro1586Leu)
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rs141276059
|
0.00045
|
NM_012309.5(SHANK2):c.625G>A (p.Asp209Asn)
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rs183556625
|
0.00034
|
NM_012309.5(SHANK2):c.1230G>A (p.Thr410=)
|
rs781906747
|
0.00030
|
NM_012309.5(SHANK2):c.227C>T (p.Pro76Leu)
|
rs199717803
|
0.00026
|
NM_012309.5(SHANK2):c.3060G>A (p.Glu1020=)
|
rs183950141
|
0.00021
|
NM_012309.5(SHANK2):c.771A>G (p.Pro257=)
|
rs200821952
|
0.00019
|
NM_012309.5(SHANK2):c.3447G>A (p.Thr1149=)
|
rs140286970
|
0.00018
|
NM_012309.5(SHANK2):c.5021C>T (p.Thr1674Met)
|
rs141040521
|
0.00015
|
NM_012309.5(SHANK2):c.4822G>A (p.Val1608Ile)
|
rs543988574
|
0.00014
|
NM_012309.5(SHANK2):c.1407C>T (p.Pro469=)
|
rs576396181
|
0.00012
|
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu)
|
rs782210973
|
0.00010
|
NM_012309.5(SHANK2):c.3120C>T (p.Ser1040=)
|
rs782245412
|
0.00006
|
NM_012309.5(SHANK2):c.2292G>A (p.Ser764=)
|
rs782696929
|
0.00005
|
NM_012309.5(SHANK2):c.1596C>T (p.Val532=)
|
rs113412646
|
0.00003
|
NM_012309.5(SHANK2):c.679C>T (p.Arg227Cys)
|
rs1341321520
|
0.00002
|
NM_012309.5(SHANK2):c.1646G>A (p.Arg549His)
|
rs377433895
|
0.00001
|
NM_012309.5(SHANK2):c.3243C>G (p.Ala1081=)
|
rs782208566
|
0.00001
|
NM_012309.5(SHANK2):c.416G>A (p.Arg139Gln)
|
rs1951923525
|
0.00001
|
NM_012309.5(SHANK2):c.84C>T (p.Ser28=)
|
rs1410224441
|
0.00001
|
GRCh37/hg19 11q13.4(chr11:70505933-70507872)x1
|
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NM_012309.5(SHANK2):c.*1533dup
|
rs575407872
|
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NM_012309.5(SHANK2):c.1174+959A>T
|
|
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NM_012309.5(SHANK2):c.1175-5810G>A
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|
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NM_012309.5(SHANK2):c.1282G>A (p.Ala428Thr)
|
|
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NM_012309.5(SHANK2):c.1287C>T (p.Ser429=)
|
|
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NM_012309.5(SHANK2):c.1288G>A (p.Ala430Thr)
|
|
|
NM_012309.5(SHANK2):c.1306T>G (p.Cys436Gly)
|
|
|
NM_012309.5(SHANK2):c.1323G>T (p.Ser441=)
|
|
|
NM_012309.5(SHANK2):c.1333C>A (p.Leu445Met)
|
rs1407643307
|
|
NM_012309.5(SHANK2):c.1341C>T (p.Pro447=)
|
|
|
NM_012309.5(SHANK2):c.1406C>A (p.Pro469His)
|
|
|
NM_012309.5(SHANK2):c.1415G>A (p.Arg472His)
|
|
|
NM_012309.5(SHANK2):c.1450G>A (p.Ala484Thr)
|
|
|
NM_012309.5(SHANK2):c.1477C>G (p.Pro493Ala)
|
|
|
NM_012309.5(SHANK2):c.1517A>G (p.Asn506Ser)
|
|
|
NM_012309.5(SHANK2):c.1539C>T (p.Phe513=)
|
|
|
NM_012309.5(SHANK2):c.1647C>T (p.Arg549=)
|
|
|
NM_012309.5(SHANK2):c.1670G>A (p.Ser557Asn)
|
|
|
NM_012309.5(SHANK2):c.174dup (p.Ile59fs)
|
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|
NM_012309.5(SHANK2):c.1854-59G>A
|
|
|
NM_012309.5(SHANK2):c.1916T>A (p.Phe639Tyr)
|
rs2134275205
|
|
NM_012309.5(SHANK2):c.1963C>T (p.Pro655Ser)
|
|
|
NM_012309.5(SHANK2):c.1971G>T (p.Pro657=)
|
|
|
NM_012309.5(SHANK2):c.1973C>G (p.Ala658Gly)
|
|
|
NM_012309.5(SHANK2):c.1987C>T (p.Gln663Ter)
|
rs2134263074
|
|
NM_012309.5(SHANK2):c.2178C>T (p.Asp726=)
|
rs988622466
|
|
NM_012309.5(SHANK2):c.2242C>T (p.Arg748Cys)
|
|
|
NM_012309.5(SHANK2):c.2284A>G (p.Lys762Glu)
|
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|
NM_012309.5(SHANK2):c.2933G>T (p.Arg978Leu)
|
|
|
NM_012309.5(SHANK2):c.3091A>T (p.Ile1031Phe)
|
|
|
NM_012309.5(SHANK2):c.3154A>G (p.Ser1052Gly)
|
|
|
NM_012309.5(SHANK2):c.3180G>A (p.Pro1060=)
|
|
|
NM_012309.5(SHANK2):c.3246C>G (p.Ile1082Met)
|
rs782033757
|
|
NM_012309.5(SHANK2):c.3391G>A (p.Asp1131Asn)
|
|
|
NM_012309.5(SHANK2):c.3541G>A (p.Gly1181Arg)
|
rs1555153851
|
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NM_012309.5(SHANK2):c.3789G>T (p.Thr1263=)
|
|
|
NM_012309.5(SHANK2):c.3871A>C (p.Lys1291Gln)
|
rs1555153584
|
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NM_012309.5(SHANK2):c.4102A>G (p.Thr1368Ala)
|
|
|
NM_012309.5(SHANK2):c.4104C>T (p.Thr1368=)
|
rs546588475
|
|
NM_012309.5(SHANK2):c.4129G>A (p.Ala1377Thr)
|
|
|
NM_012309.5(SHANK2):c.4131G>A (p.Ala1377=)
|
|
|
NM_012309.5(SHANK2):c.4151del (p.Ala1384fs)
|
rs2058800704
|
|
NM_012309.5(SHANK2):c.415C>T (p.Arg139Ter)
|
|
|
NM_012309.5(SHANK2):c.4161_4166dup (p.Leu1387_Pro1388dup)
|
rs756656381
|
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NM_012309.5(SHANK2):c.4178C>T (p.Pro1393Leu)
|
rs2058799925
|
|
NM_012309.5(SHANK2):c.4307A>G (p.Asp1436Gly)
|
|
|
NM_012309.5(SHANK2):c.432G>A (p.Val144=)
|
|
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NM_012309.5(SHANK2):c.4383C>A (p.Asp1461Glu)
|
rs1555153150
|
|
NM_012309.5(SHANK2):c.4438C>A (p.Pro1480Thr)
|
|
|
NM_012309.5(SHANK2):c.4446_4447dup (p.Phe1483fs)
|
rs2135727491
|
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NM_012309.5(SHANK2):c.4697C>T (p.Ala1566Val)
|
|
|
NM_012309.5(SHANK2):c.4746CCCGCC[1] (p.Pro1585_Pro1586del)
|
rs782653830
|
|
NM_012309.5(SHANK2):c.4847T>C (p.Leu1616Pro)
|
|
|
NM_012309.5(SHANK2):c.4979+5G>C
|
rs2058785410
|
|
NM_012309.5(SHANK2):c.4980-3756C>A
|
|
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NM_012309.5(SHANK2):c.498A>T (p.Lys166Asn)
|
|
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NM_012309.5(SHANK2):c.5008_5010delinsTGGA (p.Gly1670fs)
|
rs2135665081
|
|
NM_012309.5(SHANK2):c.5014C>G (p.Arg1672Gly)
|
|
|
NM_012309.5(SHANK2):c.506A>G (p.Asp169Gly)
|
|
|
NM_012309.5(SHANK2):c.5175C>G (p.Pro1725=)
|
|
|
NM_012309.5(SHANK2):c.5185G>A (p.Ala1729Thr)
|
|
|
NM_012309.5(SHANK2):c.5273C>T (p.Ala1758Val)
|
|
|
NM_012309.5(SHANK2):c.5274G>A (p.Ala1758=)
|
|
|
NM_012309.5(SHANK2):c.5436C>T (p.Ile1812=)
|
|
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NM_012309.5(SHANK2):c.713C>G (p.Ala238Gly)
|
|
|
NM_012309.5(SHANK2):c.8G>A (p.Arg3His)
|
|
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