NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter)
|
rs769350713
|
0.00002
|
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys)
|
rs587784154
|
0.00001
|
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)
|
rs545185248
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer)
|
rs587783749
|
|
NM_022455.4(NSD1):c.(?_-138)_(7458_?)del
|
|
|
NM_022455.4(NSD1):c.5408_5411delACTAins9
|
|
|
NM_022455.5(NSD1):c.1077del (p.Arg359fs)
|
rs587784068
|
|
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter)
|
rs587784071
|
|
NM_022455.5(NSD1):c.1264dup (p.Glu422fs)
|
rs797045804
|
|
NM_022455.5(NSD1):c.1456del (p.Ser486fs)
|
rs587784073
|
|
NM_022455.5(NSD1):c.1802dup (p.Cys602fs)
|
rs797045805
|
|
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)
|
rs587784076
|
|
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)
|
rs587784077
|
|
NM_022455.5(NSD1):c.2014_2018del (p.Thr672fs)
|
rs587784078
|
|
NM_022455.5(NSD1):c.2048del (p.Lys683fs)
|
rs587784079
|
|
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)
|
rs587784080
|
|
NM_022455.5(NSD1):c.2064del (p.Arg688fs)
|
rs587784081
|
|
NM_022455.5(NSD1):c.2124_2127del (p.His708fs)
|
rs587784082
|
|
NM_022455.5(NSD1):c.2167dup (p.Thr723fs)
|
rs797045807
|
|
NM_022455.5(NSD1):c.2190_2191delinsG (p.Ser731fs)
|
rs797045808
|
|
NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter)
|
rs587784084
|
|
NM_022455.5(NSD1):c.2295del (p.Ser766fs)
|
rs587784085
|
|
NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter)
|
rs201327209
|
|
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs)
|
rs587784086
|
|
NM_022455.5(NSD1):c.2639del (p.Gly880fs)
|
rs587784087
|
|
NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter)
|
rs587784088
|
|
NM_022455.5(NSD1):c.2827del (p.Asp943fs)
|
rs587784089
|
|
NM_022455.5(NSD1):c.2859dup (p.Lys954Ter)
|
rs797045809
|
|
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)
|
rs587784092
|
|
NM_022455.5(NSD1):c.2956del (p.Ala986fs)
|
rs587784093
|
|
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs)
|
rs1554189941
|
|
NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs)
|
rs587784094
|
|
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)
|
rs587784095
|
|
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter)
|
rs587784096
|
|
NM_022455.5(NSD1):c.3146dup (p.Thr1050fs)
|
rs797045810
|
|
NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs)
|
rs587784097
|
|
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)
|
rs587784098
|
|
NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs)
|
rs797045811
|
|
NM_022455.5(NSD1):c.3293del (p.Thr1098fs)
|
rs587784099
|
|
NM_022455.5(NSD1):c.3295del (p.Ser1099fs)
|
rs587784100
|
|
NM_022455.5(NSD1):c.3316dup (p.Ser1106fs)
|
rs797045812
|
|
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs)
|
rs587784101
|
|
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter)
|
rs797045813
|
|
NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs)
|
rs587784103
|
|
NM_022455.5(NSD1):c.3578dup (p.Ser1193fs)
|
rs797045814
|
|
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)
|
rs587784104
|
|
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)
|
rs587784105
|
|
NM_022455.5(NSD1):c.3922-2_3925delinsG
|
rs1554195815
|
|
NM_022455.5(NSD1):c.3939dup (p.Glu1314fs)
|
rs797045815
|
|
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)
|
rs121908070
|
|
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)
|
rs587784107
|
|
NM_022455.5(NSD1):c.4020del (p.Glu1341fs)
|
rs797045816
|
|
NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter)
|
rs587784109
|
|
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter)
|
rs587784110
|
|
NM_022455.5(NSD1):c.4192+2T>G
|
rs587784111
|
|
NM_022455.5(NSD1):c.4282dup (p.Asp1428fs)
|
rs797045817
|
|
NM_022455.5(NSD1):c.4301del (p.Lys1434fs)
|
rs587784112
|
|
NM_022455.5(NSD1):c.4301dup (p.Cys1435fs)
|
rs587784112
|
|
NM_022455.5(NSD1):c.4376del (p.Gly1459fs)
|
rs587784114
|
|
NM_022455.5(NSD1):c.4378+1G>A
|
rs587784115
|
|
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter)
|
rs570278338
|
|
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)
|
rs587784117
|
|
NM_022455.5(NSD1):c.4444C>T (p.Gln1482Ter)
|
rs587784118
|
|
NM_022455.5(NSD1):c.4479_4488dup (p.Gly1497fs)
|
rs797045819
|
|
NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter)
|
rs587784119
|
|
NM_022455.5(NSD1):c.4498-3A>G
|
rs587784120
|
|
NM_022455.5(NSD1):c.4529del (p.Ser1510fs)
|
rs587784121
|
|
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter)
|
rs587784122
|
|
NM_022455.5(NSD1):c.4705del (p.Glu1569fs)
|
rs587784123
|
|
NM_022455.5(NSD1):c.4731_4732del (p.Gly1579fs)
|
rs587784124
|
|
NM_022455.5(NSD1):c.4732dup (p.Arg1578fs)
|
rs797045820
|
|
NM_022455.5(NSD1):c.4745del (p.Ile1582fs)
|
rs587784125
|
|
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter)
|
rs587784126
|
|
NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser)
|
rs587784128
|
|
NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly)
|
rs587784128
|
|
NM_022455.5(NSD1):c.4882_4883insAA (p.Met1628fs)
|
rs797045821
|
|
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe)
|
rs587784129
|
|
NM_022455.5(NSD1):c.4966+1G>A
|
rs587784131
|
|
NM_022455.5(NSD1):c.4966G>T (p.Gly1656Cys)
|
rs587784132
|
|
NM_022455.5(NSD1):c.4967-2A>T
|
rs587784133
|
|
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys)
|
rs587784134
|
|
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)
|
rs587784137
|
|
NM_022455.5(NSD1):c.5141C>G (p.Ser1714Ter)
|
rs587784138
|
|
NM_022455.5(NSD1):c.5146+1G>A
|
rs587784139
|
|
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs)
|
rs398124379
|
|
NM_022455.5(NSD1):c.5303+1G>C
|
rs587784141
|
|
NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter)
|
rs587784142
|
|
NM_022455.5(NSD1):c.5375G>A (p.Gly1792Glu)
|
rs587784143
|
|
NM_022455.5(NSD1):c.5392_5398del (p.Phe1798fs)
|
rs587784145
|
|
NM_022455.5(NSD1):c.5407_5410dup (p.Tyr1804Ter)
|
rs797045823
|
|
NM_022455.5(NSD1):c.5425C>T (p.Gln1809Ter)
|
rs587784147
|
|
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)
|
rs587784148
|
|
NM_022455.5(NSD1):c.5432G>A (p.Arg1811Gln)
|
rs587784149
|
|
NM_022455.5(NSD1):c.5566C>T (p.Gln1856Ter)
|
rs587784151
|
|
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)
|
rs886041218
|
|
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs)
|
rs587784152
|
|
NM_022455.5(NSD1):c.5712del (p.Cys1905fs)
|
rs587784153
|
|
NM_022455.5(NSD1):c.5790dup (p.Cys1931fs)
|
rs797045824
|
|
NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter)
|
rs587784157
|
|
NM_022455.5(NSD1):c.5805C>A (p.Cys1935Ter)
|
rs587784158
|
|
NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys)
|
rs587784160
|
|
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr)
|
rs587784162
|
|
NM_022455.5(NSD1):c.5893-2A>G
|
rs587784163
|
|
NM_022455.5(NSD1):c.5903del (p.Val1968fs)
|
rs587784164
|
|
NM_022455.5(NSD1):c.5911del (p.Tyr1971fs)
|
rs587784165
|
|
NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter)
|
rs587784168
|
|
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln)
|
rs587784169
|
|
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter)
|
rs587784170
|
|
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His)
|
rs587784171
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)
|
rs587784174
|
|
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)
|
rs587784176
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser)
|
rs587784178
|
|
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter)
|
rs587784179
|
|
NM_022455.5(NSD1):c.6094_6095dup (p.Trp2032fs)
|
rs797045826
|
|
NM_022455.5(NSD1):c.6112dup (p.Thr2038fs)
|
rs797045827
|
|
NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter)
|
rs587784183
|
|
NM_022455.5(NSD1):c.6165del (p.Phe2056fs)
|
rs587784184
|
|
NM_022455.5(NSD1):c.6218dup (p.Ala2074fs)
|
rs797045828
|
|
NM_022455.5(NSD1):c.6258+1G>A
|
rs587784185
|
|
NM_022455.5(NSD1):c.6290dup (p.Lys2098fs)
|
rs797045829
|
|
NM_022455.5(NSD1):c.6291del (p.Lys2098fs)
|
rs587784186
|
|
NM_022455.5(NSD1):c.6307C>T (p.Gln2103Ter)
|
rs587784187
|
|
NM_022455.5(NSD1):c.6307_6308insTGTGC (p.Gln2103fs)
|
rs797045830
|
|
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter)
|
rs587784188
|
|
NM_022455.5(NSD1):c.6311_6312del (p.Gln2104fs)
|
rs587784189
|
|
NM_022455.5(NSD1):c.6344dup (p.Glu2116fs)
|
rs797045831
|
|
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)
|
rs587784190
|
|
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)
|
rs587784191
|
|
NM_022455.5(NSD1):c.6366del (p.Phe2122fs)
|
rs587784192
|
|
NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val)
|
rs587784193
|
|
NM_022455.5(NSD1):c.6421del (p.Val2141fs)
|
rs587784197
|
|
NM_022455.5(NSD1):c.6431del (p.Ala2144fs)
|
rs587784198
|
|
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter)
|
rs587784199
|
|
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
NM_022455.5(NSD1):c.6459_6463+5del
|
rs797045832
|
|
NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter)
|
rs587784201
|
|
NM_022455.5(NSD1):c.6476G>A (p.Cys2159Tyr)
|
rs587784202
|
|
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del)
|
rs587784206
|
|
NM_022455.5(NSD1):c.6539_6557del (p.Ser2180fs)
|
rs587784207
|
|
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)
|
rs587784209
|
|
NM_022455.5(NSD1):c.6604T>A (p.Cys2202Ser)
|
rs587784210
|
|
NM_022455.5(NSD1):c.6656G>A (p.Arg2219His)
|
rs587784214
|
|
NM_022455.5(NSD1):c.7783A>T (p.Lys2595Ter)
|
rs797045834
|
|
NM_022455.5(NSD1):c.7939_7940del (p.Gln2647fs)
|
rs587784219
|
|
NM_022455.5(NSD1):c.8036del (p.Pro2679fs)
|
rs587784220
|
|
NM_022455.5(NSD1):c.8043del (p.Asn2682fs)
|
rs587784221
|
|
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|