NM_001372044.2(SHANK3):c.2455+1G>A
|
rs1396379503
|
0.00001
|
GRCh37/hg19 22q13.33(chr22:51107230-51166282)x3
|
|
|
NM_001372044.2(SHANK3):c.1065C>G (p.Asn355Lys)
|
rs200400333
|
|
NM_001372044.2(SHANK3):c.1255G>T (p.Val419Leu)
|
rs1057519406
|
|
NM_001372044.2(SHANK3):c.1257+4A>G
|
rs1555906705
|
|
NM_001372044.2(SHANK3):c.1593dup (p.Ala532fs)
|
rs1064797289
|
|
NM_001372044.2(SHANK3):c.1721del (p.Lys574fs)
|
rs1064797290
|
|
NM_001372044.2(SHANK3):c.1797C>A (p.Cys599Ter)
|
rs377573165
|
|
NM_001372044.2(SHANK3):c.2300G>A (p.Arg767His)
|
rs1064796528
|
|
NM_001372044.2(SHANK3):c.2324+1del
|
rs2146817773
|
|
NM_001372044.2(SHANK3):c.2455+1G>C
|
|
|
NM_001372044.2(SHANK3):c.2869dup (p.Tyr957fs)
|
|
|
NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)
|
|
|
NM_001372044.2(SHANK3):c.2951dup (p.Pro985fs)
|
rs1603447111
|
|
NM_001372044.2(SHANK3):c.2970del (p.Glu991fs)
|
|
|
NM_001372044.2(SHANK3):c.3159_3179delinsGGCAG (p.Gly1054fs)
|
rs2146830032
|
|
NM_001372044.2(SHANK3):c.3187_3188insGCTCTCCCCGA (p.Thr1063fs)
|
|
|
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs)
|
rs2083280147
|
|
NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
|
|
|
NM_001372044.2(SHANK3):c.3443del (p.Pro1148fs)
|
|
|
NM_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)
|
|
|
NM_001372044.2(SHANK3):c.3949dup (p.Met1317fs)
|
|
|
NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
|
|
|
NM_001372044.2(SHANK3):c.3977_3989del (p.Leu1326fs)
|
rs1555910182
|
|
NM_001372044.2(SHANK3):c.4013dup (p.Ala1339fs)
|
rs1555910193
|
|
NM_001372044.2(SHANK3):c.4257_4260del (p.Glu1419fs)
|
rs1569116167
|
|
NM_001372044.2(SHANK3):c.4274_4275del (p.Glu1425fs)
|
rs2146832853
|
|
NM_001372044.2(SHANK3):c.4311_4312del (p.Arg1438fs)
|
rs1603447144
|
|
NM_001372044.2(SHANK3):c.4556_4559dup (p.Gln1520fs)
|
rs2083297043
|
|
NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter)
|
rs1064795759
|
|
NM_001372044.2(SHANK3):c.4732C>T (p.Gln1578Ter)
|
rs2146833747
|
|
NM_001372044.2(SHANK3):c.4765dup (p.Glu1589fs)
|
rs1569116595
|
|
NM_001372044.2(SHANK3):c.4836dup (p.Ser1613fs)
|
rs1555910895
|
|
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs)
|
rs1603447373
|
|
NM_001372044.2(SHANK3):c.494+2T>G
|
rs1603445997
|
|
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter)
|
rs1569097392
|
|
NM_001372044.2(SHANK3):c.503A>G (p.Lys168Arg)
|
|
|
NM_001372044.2(SHANK3):c.5046dup (p.Ile1683fs)
|
rs1603447381
|
|
NM_001372044.2(SHANK3):c.5086A>T (p.Lys1696Ter)
|
rs1085307954
|
|
NM_001372044.2(SHANK3):c.5166dup (p.Gly1723fs)
|
|
|
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter)
|
rs2083361357
|
|
NM_001372044.2(SHANK3):c.5227T>C (p.Trp1743Arg)
|
rs2083361660
|
|
NM_001372044.2(SHANK3):c.5239G>T (p.Asp1747Tyr)
|
rs1131691485
|
|
NM_001372044.2(SHANK3):c.5251T>C (p.Trp1751Arg)
|
rs1131691469
|
|
NM_001372044.2(SHANK3):c.5281C>A (p.Arg1761Ser)
|
rs2146844008
|
|
NM_001372044.2(SHANK3):c.5324_5334del (p.Pro1775fs)
|
|
|
NM_001372044.2(SHANK3):c.5354T>C (p.Leu1785Pro)
|
rs1555910948
|
|
NM_001372044.2(SHANK3):c.5362dup (p.Thr1788fs)
|
rs2083362624
|
|
NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala)
|
rs397514705
|
|
NM_001372044.2(SHANK3):c.973G>T (p.Gly325Cys)
|
rs1131691463
|
|
NM_001372044.2(SHANK3):c.993G>T (p.Gln331His)
|
rs1131691464
|
|
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs)
|
rs1555910143
|
|
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|