NM_000033.4(ABCD1):c.1455A>C (p.Ser485=)
|
rs150878397 |
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu)
|
rs79383557 |
NM_000033.4(ABCD1):c.258C>T (p.Val86=)
|
rs200660869 |
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322 |
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955 |
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098 |
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597 |
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563 |
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150 |
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)
|
rs148765730 |
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)
|
rs372489000 |
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049 |
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)
|
rs371939448 |
NM_000156.6(GAMT):c.189G>C (p.Arg63=)
|
rs568392459 |
NM_000156.6(GAMT):c.279C>T (p.Asp93=)
|
rs144630886 |
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)
|
rs779931959 |
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199 |
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)
|
rs17851582 |
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn)
|
rs753228876 |
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152 |
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157 |
NM_000167.5(GK):c.1095G>A (p.Ser365=)
|
rs139652893 |
NM_000167.5(GK):c.730-5A>T
|
rs186543786 |
NM_000202.8(IDS):c.1074C>G (p.Pro358=)
|
rs61736891 |
NM_000202.8(IDS):c.123C>G (p.Leu41=)
|
rs146904022 |
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524 |
NM_000202.8(IDS):c.925A>G (p.Thr309Ala)
|
rs145807417 |
NM_000240.3(MAOA):c.1410T>C (p.Asp470=)
|
rs1137070 |
NM_000240.3(MAOA):c.385A>C (p.Arg129=)
|
rs1800464 |
NM_000240.3(MAOA):c.825G>A (p.Pro275=)
|
rs138703731 |
NM_000240.3(MAOA):c.891G>T (p.Arg297=)
|
rs6323 |
NM_000266.4(NDP):c.101C>T (p.Ser34Leu)
|
rs144031424 |
NM_000276.4(OCRL):c.105G>A (p.Arg35=)
|
rs142321728 |
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile)
|
rs61752970 |
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971 |
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)
|
rs1126565 |
NM_000284.4(PDHA1):c.97G>C (p.Asp33His)
|
rs150318528 |
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr)
|
rs1800205 |
NM_000310.3(PPT1):c.627+4A>G
|
rs572153728 |
NM_000310.3(PPT1):c.837G>C (p.Gln279His)
|
rs72937434 |
NM_000310.3(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902 |
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255 |
NM_000368.4(TSC1):c.1218C>T (p.Tyr406=)
|
rs373465241 |
NM_000368.4(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480 |
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val)
|
rs397514859 |
NM_000368.4(TSC1):c.782A>G (p.Lys261Arg)
|
rs371225009 |
NM_000381.4(MID1):c.1230C>T (p.Ser410=)
|
rs16986145 |
NM_000381.4(MID1):c.1698A>G (p.Glu566=)
|
rs34554583 |
NM_000381.4(MID1):c.250G>A (p.Asp84Asn)
|
rs374851071 |
NM_000381.4(MID1):c.588C>G (p.Ala196=)
|
rs41303167 |
NM_000489.5(ATRX):c.228G>A (p.Ser76=)
|
rs5959371 |
NM_000489.5(ATRX):c.2785= (p.Glu929=)
|
rs3088074 |
NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr)
|
rs587780285 |
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732 |
NM_000489.5(ATRX):c.4035G>A (p.Leu1345=)
|
rs111725949 |
NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly)
|
rs782553301 |
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=)
|
rs141974120 |
NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del)
|
rs398123423 |
NM_000489.5(ATRX):c.4659T>C (p.His1553=)
|
rs25641 |
NM_000489.5(ATRX):c.4810-3T>C
|
rs370596323 |
NM_000489.5(ATRX):c.570T>G (p.Pro190=)
|
rs188831993 |
NM_000489.5(ATRX):c.6149T>C (p.Ile2050Thr)
|
rs122445110 |
NM_000489.5(ATRX):c.6640T>G (p.Leu2214Val)
|
rs782396522 |
NM_000489.5(ATRX):c.846C>T (p.Ser282=)
|
rs148015780 |
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
|
rs1800321 |
NM_000531.6(OTC):c.298+5G>C
|
rs72554348 |
NM_000531.6(OTC):c.751T>C (p.Leu251=)
|
rs36005267 |
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328 |
NM_000533.5(PLP1):c.168A>G (p.Gln56=)
|
rs2233697 |
NM_000533.5(PLP1):c.609T>C (p.Asp203=)
|
rs1126707 |
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)
|
rs757113497 |
NM_000548.5(TSC2):c.1258-5G>T
|
rs925954967 |
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr)
|
rs760896048 |
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500 |
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=)
|
rs747104674 |
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=)
|
rs368712041 |
NM_000548.5(TSC2):c.4044C>T (p.His1348=)
|
rs137854084 |
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn)
|
rs147719291 |
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu)
|
rs45517341 |
NM_000548.5(TSC2):c.618C>T (p.Cys206=)
|
rs45498496 |
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val)
|
rs121917810 |
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)
|
rs34534613 |
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=)
|
rs1051360 |
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)
|
rs200330469 |
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=)
|
rs116491041 |
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser)
|
rs112532048 |
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988 |
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=)
|
rs184684058 |
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)
|
rs111606207 |
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=)
|
rs202058956 |
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008 |
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230 |
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466 |
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058 |
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)
|
rs200231105 |
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=)
|
rs56270948 |
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586 |
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg)
|
rs186867242 |
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325 |
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421 |
NM_000719.7(CACNA1C):c.966C>T (p.His322=)
|
rs112539787 |
NM_000834.4(GRIN2B):c.1125+5G>A
|
rs3751257 |
NM_000834.4(GRIN2B):c.1338A>G (p.Thr446=)
|
rs141031272 |
NM_000834.4(GRIN2B):c.15G>A (p.Ala5=)
|
rs34315573 |
NM_000834.4(GRIN2B):c.1665C>T (p.Ser555=)
|
rs1805482 |
NM_000834.4(GRIN2B):c.1806C>T (p.Ile602=)
|
rs1805522 |
NM_000834.4(GRIN2B):c.1851C>T (p.Ser617=)
|
rs147373250 |
NM_000834.4(GRIN2B):c.2202A>G (p.Ala734=)
|
rs148185805 |
NM_000834.4(GRIN2B):c.228C>T (p.Thr76=)
|
rs77299791 |
NM_000834.4(GRIN2B):c.2514C>T (p.Cys838=)
|
rs3026160 |
NM_000834.4(GRIN2B):c.2628G>A (p.Ala876=)
|
rs199710029 |
NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=)
|
rs35125534 |
NM_000834.4(GRIN2B):c.2703G>A (p.Leu901=)
|
rs145005918 |
NM_000834.4(GRIN2B):c.291G>A (p.Val97=)
|
rs202223470 |
NM_000834.4(GRIN2B):c.3047G>A (p.Arg1016Lys)
|
rs141109968 |
NM_000834.4(GRIN2B):c.3076G>A (p.Gly1026Ser)
|
rs201963596 |
NM_000834.4(GRIN2B):c.3117C>T (p.Tyr1039=)
|
rs147762014 |
NM_000834.4(GRIN2B):c.3534C>T (p.His1178=)
|
rs1806191 |
NM_000834.4(GRIN2B):c.3552C>T (p.Gly1184=)
|
rs141886903 |
NM_000834.4(GRIN2B):c.366C>G (p.Pro122=)
|
rs7301328 |
NM_000834.4(GRIN2B):c.3747C>T (p.Gly1249=)
|
rs138771137 |
NM_000834.4(GRIN2B):c.3837T>G (p.Thr1279=)
|
rs1806200 |
NM_000834.4(GRIN2B):c.3993G>A (p.Met1331Ile)
|
rs200035225 |
NM_000834.4(GRIN2B):c.4113C>T (p.Tyr1371=)
|
rs146792012 |
NM_000834.4(GRIN2B):c.4197T>C (p.His1399=)
|
rs1805247 |
NM_000834.4(GRIN2B):c.4240G>T (p.Ala1414Ser)
|
rs140744818 |
NM_000834.4(GRIN2B):c.4311C>T (p.Ala1437=)
|
rs112265127 |
NM_000834.4(GRIN2B):c.504C>A (p.Ile168=)
|
rs36031537 |
NM_000834.4(GRIN2B):c.870C>T (p.Pro290=)
|
rs1124894 |
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=)
|
rs1806201 |
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr)
|
rs145018752 |
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=)
|
rs61742545 |
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=)
|
rs41298498 |
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=)
|
rs142714242 |
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu)
|
rs61731613 |
NM_001008537.3(NEXMIF):c.4205A>G (p.Asn1402Ser)
|
rs140532942 |
NM_001015877.2(PHF6):c.729+4A>G
|
rs188961105 |
NM_001015877.2(PHF6):c.927C>T (p.Asp309=)
|
rs112199174 |
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373 |
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602 |
NM_001029896.2(WDR45):c.944A>C (p.Asn315Thr)
|
rs782562675 |
NM_001039891.3(ZNF674):c.1028C>T (p.Thr343Met)
|
rs61730637 |
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)
|
rs139815570 |
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)
|
rs184769423 |
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=)
|
rs200246820 |
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=)
|
rs543538780 |
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)
|
rs147891446 |
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp)
|
rs200783308 |
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)
|
rs149534277 |
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=)
|
rs192461273 |
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980 |
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=)
|
rs187731029 |
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=)
|
rs145662546 |
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=)
|
rs144325450 |
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=)
|
rs140194137 |
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
|
rs147522594 |
NM_001040142.2(SCN2A):c.4782G>C (p.Trp1594Cys)
|
rs1057521747 |
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=)
|
rs373347369 |
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)
|
rs2227898 |
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser)
|
rs147084515 |
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala)
|
rs138497939 |
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=)
|
rs148424455 |
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys)
|
rs17183814 |
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
|
rs139899756 |
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)
|
rs73025979 |
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr)
|
rs527452801 |
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=)
|
rs143765389 |
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=)
|
rs185590667 |
NM_001040616.3(LINS1):c.1124C>T (p.Thr375Ile)
|
rs143097819 |
NM_001040616.3(LINS1):c.1194A>G (p.Gln398=)
|
rs138347314 |
NM_001040616.3(LINS1):c.1285C>T (p.Leu429=)
|
rs141962847 |
NM_001040616.3(LINS1):c.1302G>A (p.Pro434=)
|
rs148166631 |
NM_001040616.3(LINS1):c.1479T>C (p.Cys493=)
|
rs144513217 |
NM_001040616.3(LINS1):c.1887C>T (p.Tyr629=)
|
rs61999313 |
NM_001040616.3(LINS1):c.2027A>G (p.Glu676Gly)
|
rs150348863 |
NM_001040616.3(LINS1):c.2119G>A (p.Gly707Arg)
|
rs74039425 |
NM_001040616.3(LINS1):c.52G>A (p.Gly18Arg)
|
rs141782332 |
NM_001040616.3(LINS1):c.615A>G (p.Ser205=)
|
rs148622636 |
NM_001040616.3(LINS1):c.718C>T (p.Arg240Trp)
|
rs145145735 |
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=)
|
rs552340151 |
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=)
|
rs143944746 |
NM_001083962.2(TCF4):c.1486+4G>C
|
rs201274415 |
NM_001083962.2(TCF4):c.1704G>A (p.Glu568=)
|
rs144068462 |
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=)
|
rs151150677 |
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=)
|
rs76956936 |
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser)
|
rs143244149 |
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys)
|
rs139876825 |
NM_001083962.2(TCF4):c.413C>G (p.Thr138Ser)
|
rs796053416 |
NM_001083962.2(TCF4):c.504A>G (p.Val168=)
|
rs370160994 |
NM_001083962.2(TCF4):c.936C>T (p.Ser312=)
|
rs368270265 |
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val)
|
rs147445499 |
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser)
|
rs149808406 |
NM_001099922.3(ALG13):c.108A>G (p.Arg36=)
|
rs769838471 |
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu)
|
rs199754211 |
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val)
|
rs199505558 |
NM_001099922.3(ALG13):c.2573A>G (p.Asn858Ser)
|
rs756238772 |
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro)
|
rs142841538 |
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)
|
rs372260338 |
NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala)
|
rs753556936 |
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721 |
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693 |
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692 |
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194 |
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp)
|
rs61730768 |
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=)
|
rs782615607 |
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674 |
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642 |
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=)
|
rs73638274 |
NM_001110556.2(FLNA):c.2023-4C>G
|
rs368719012 |
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln)
|
rs371707134 |
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788 |
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=)
|
rs35986650 |
NM_001110556.2(FLNA):c.2609A>G (p.His870Arg)
|
rs200679107 |
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile)
|
rs199911951 |
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile)
|
rs201656372 |
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)
|
rs782445995 |
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204 |
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=)
|
rs79391751 |
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=)
|
rs199530601 |
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603 |
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
|
rs199917719 |
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile)
|
rs782265007 |
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=)
|
rs201488545 |
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=)
|
rs182074603 |
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)
|
rs34439033 |
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356 |
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=)
|
rs200835571 |
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041 |
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764 |
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893 |
NM_001110556.2(FLNA):c.5313+4C>T
|
rs377330443 |
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)
|
rs373089783 |
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)
|
rs2070825 |
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309 |
NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys)
|
rs782069230 |
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)
|
rs375205247 |
NM_001110556.2(FLNA):c.6607G>A (p.Val2203Ile)
|
rs782562592 |
NM_001110556.2(FLNA):c.663C>T (p.Pro221=)
|
rs2073470 |
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=)
|
rs1064822 |
NM_001110556.2(FLNA):c.66C>T (p.Asp22=)
|
rs782358007 |
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895 |
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn)
|
rs782739586 |
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500 |
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=)
|
rs12008807 |
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=)
|
rs200195310 |
NM_001110556.2(FLNA):c.759C>T (p.Asp253=)
|
rs782701643 |
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu)
|
rs371724771 |
NM_001110556.2(FLNA):c.942A>G (p.Gly314=)
|
rs200763980 |
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)
|
rs148744894 |
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439 |
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=)
|
rs61753012 |
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014 |
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)
|
rs61753973 |
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)
|
rs3027927 |
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)
|
rs587781033 |
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)
|
rs267608388 |
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517 |
NM_001110792.2(MECP2):c.429C>G (p.Ala143=)
|
rs61748385 |
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904 |
NM_001110792.2(MECP2):c.563C>A (p.Pro188His)
|
rs61749701 |
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714 |
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met)
|
rs61749720 |
NM_001110792.2(MECP2):c.723G>T (p.Ser241=)
|
rs782461567 |
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139 |
NM_001110792.2(MECP2):c.785G>A (p.Arg262His)
|
rs61750227 |
NM_001110792.2(MECP2):c.786C>T (p.Arg262=)
|
rs61748424 |
NM_001110792.2(MECP2):c.789C>T (p.Pro263=)
|
rs63582063 |
NM_001110792.2(MECP2):c.81C>T (p.Asp27=)
|
rs782168400 |
NM_001110792.2(MECP2):c.870C>T (p.Ala290=)
|
rs61750248 |
NM_001110792.2(MECP2):c.885C>G (p.Ala295=)
|
rs61750253 |
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423 |
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445 |
NM_001110792.2(MECP2):c.978C>T (p.Ile326=)
|
rs61751446 |
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln)
|
rs782420335 |
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=)
|
rs61745228 |
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly)
|
rs782051125 |
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=)
|
rs146979083 |
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)
|
rs782697291 |
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=)
|
rs371450118 |
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys)
|
rs957057964 |
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=)
|
rs184087864 |
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=)
|
rs17145653 |
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=)
|
rs17145652 |
NM_001123385.2(BCOR):c.408C>T (p.Ala136=)
|
rs139802143 |
NM_001123385.2(BCOR):c.4977-4G>T
|
rs5963725 |
NM_001123385.2(BCOR):c.780C>T (p.Ser260=)
|
rs1430817668 |
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)
|
rs2248069 |
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886 |
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384 |
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014 |
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=)
|
rs16010 |
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)
|
rs182505786 |
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894 |
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=)
|
rs16011 |
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=)
|
rs16012 |
NM_001127222.2(CACNA1A):c.1914-4G>A
|
rs191026552 |
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=)
|
rs16016 |
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)
|
rs16019 |
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln)
|
rs374664760 |
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)
|
rs16020 |
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=)
|
rs16021 |
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)
|
rs16022 |
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)
|
rs749357610 |
NM_001127222.2(CACNA1A):c.2968_2973GAGGGC[4] (p.990_991EG[4])
|
rs764399373 |
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)
|
rs16023 |
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala)
|
rs28413664 |
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024 |
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)
|
rs16025 |
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)
|
rs16026 |
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027 |
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)
|
rs199793367 |
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)
|
rs780535727 |
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)
|
rs16029 |
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)
|
rs16030 |
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
|
rs201200430 |
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=)
|
rs572036869 |
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=)
|
rs1800039 |
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)
|
rs150378053 |
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247 |
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062 |
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=)
|
rs17846921 |
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)
|
rs757291476 |
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=)
|
rs16044 |
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)
|
rs41276894 |
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234 |
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys)
|
rs202002033 |
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=)
|
rs200093958 |
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)
|
rs202216404 |
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049 |
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)
|
rs16050 |
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His)
|
rs572722130 |
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130 |
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077 |
NM_001127222.2(CACNA1A):c.6630_6632CCA[10] (p.His2219dup)
|
rs759331923 |
NM_001127222.2(CACNA1A):c.6630_6632CCA[8] (p.His2219del)
|
rs759331923 |
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del)
|
rs776181081 |
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del)
|
rs749638821 |
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051 |
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814 |
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)
|
rs16006 |
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=)
|
rs139329447 |
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=)
|
rs2229193 |
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)
|
rs145956175 |
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=)
|
rs372058698 |
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=)
|
rs9806806 |
NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr)
|
rs199784503 |
NM_001134407.3(GRIN2A):c.2694C>T (p.Leu898=)
|
rs569998469 |
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)
|
rs77705198 |
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu)
|
rs61731465 |
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys)
|
rs61758995 |
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086 |
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly)
|
rs372353067 |
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
|
rs78631453 |
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288 |
NM_001134407.3(GRIN2A):c.447G>A (p.Ala149=)
|
rs144464666 |
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353 |
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg)
|
rs61731464 |
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=)
|
rs143594020 |
NM_001134407.3(GRIN2A):c.669C>T (p.His223=)
|
rs138117658 |
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=)
|
rs141912603 |
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=)
|
rs148085725 |
NM_001134407.3(GRIN2A):c.900C>T (p.Thr300=)
|
rs143669998 |
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=)
|
rs78241448 |
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=)
|
rs146867324 |
NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=)
|
rs145172949 |
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=)
|
rs148976893 |
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)
|
rs34179337 |
NM_001160372.4(TRAPPC9):c.159C>T (p.Leu53=)
|
rs112997540 |
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=)
|
rs12549048 |
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=)
|
rs117685875 |
NM_001160372.4(TRAPPC9):c.198C>T (p.Asn66=)
|
rs142627115 |
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)
|
rs3735801 |
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=)
|
rs11166965 |
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202 |
NM_001160372.4(TRAPPC9):c.2742C>T (p.Thr914=)
|
rs28710457 |
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser)
|
rs114949291 |
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=)
|
rs2614718 |
NM_001160372.4(TRAPPC9):c.2811-5C>T
|
rs534788967 |
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)
|
rs3735802 |
NM_001160372.4(TRAPPC9):c.2988G>A (p.Glu996=)
|
rs142048892 |
NM_001160372.4(TRAPPC9):c.3012C>T (p.Asn1004=)
|
rs148805943 |
NM_001160372.4(TRAPPC9):c.3069C>T (p.Asp1023=)
|
rs144383785 |
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys)
|
rs147499593 |
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile)
|
rs35578974 |
NM_001160372.4(TRAPPC9):c.3225C>T (p.Tyr1075=)
|
rs58740567 |
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=)
|
rs112551069 |
NM_001160372.4(TRAPPC9):c.3279+4C>T
|
rs79877357 |
NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=)
|
rs148857575 |
NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=)
|
rs373979305 |
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg)
|
rs147127279 |
NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met)
|
rs140157207 |
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=)
|
rs34457678 |
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=)
|
rs61739560 |
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=)
|
rs3735803 |
NM_001160372.4(TRAPPC9):c.414C>T (p.Tyr138=)
|
rs115986561 |
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=)
|
rs57593250 |
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=)
|
rs61736350 |
NM_001163817.2(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276 |
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=)
|
rs139721775 |
NM_001164617.2(GPC3):c.1354G>A (p.Val452Met)
|
rs11539789 |
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val)
|
rs201870762 |
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)
|
rs114137271 |
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=)
|
rs7580482 |
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=)
|
rs142571794 |
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817 |
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)
|
rs145662732 |
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=)
|
rs145035963 |
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769 |
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)
|
rs6432860 |
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=)
|
rs145101180 |
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)
|
rs144679294 |
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=)
|
rs780391343 |
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)
|
rs2298771 |
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=)
|
rs61741123 |
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799 |
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=)
|
rs375896308 |
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122 |
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910 |
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=)
|
rs149579028 |
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val)
|
rs762317674 |
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His)
|
rs1295072436 |
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val)
|
rs138231868 |
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=)
|
rs78041051 |
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457 |
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=)
|
rs368785509 |
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)
|
rs145296488 |
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe)
|
rs377325221 |
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=)
|
rs142910512 |
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)
|
rs148546224 |
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=)
|
rs150570058 |
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)
|
rs144691638 |
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr)
|
rs35735053 |
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308 |
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)
|
rs553367989 |
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=)
|
rs190978463 |
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys)
|
rs78640816 |
NM_001170629.2(CHD8):c.27C>T (p.Phe9=)
|
rs75191413 |
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met)
|
rs111250264 |
NM_001170629.2(CHD8):c.456A>G (p.Pro152=)
|
rs61752839 |
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=)
|
rs766317271 |
NM_001170629.2(CHD8):c.6054T>C (p.Ser2018=)
|
rs61752836 |
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)
|
rs145300090 |
NM_001170629.2(CHD8):c.6207G>A (p.Ser2069=)
|
rs370827611 |
NM_001170629.2(CHD8):c.6312G>A (p.Glu2104=)
|
rs118140634 |
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys)
|
rs200465274 |
NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln)
|
rs573063062 |
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe)
|
rs192989929 |
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819 |
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=)
|
rs192354176 |
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631 |
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys)
|
rs3764758 |
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)
|
rs191333060 |
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=)
|
rs192122222 |
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=)
|
rs377627937 |
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=)
|
rs184883626 |
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027 |
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)
|
rs56307810 |
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=)
|
rs368963363 |
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg)
|
rs201621696 |
NM_001195553.2(DCX):c.588T>C (p.Arg196=)
|
rs138706968 |
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser)
|
rs149495971 |
NM_001195553.2(DCX):c.948A>C (p.Ala316=)
|
rs770799939 |
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)
|
rs114201291 |
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)
|
rs1217401 |
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)
|
rs114734921 |
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)
|
rs34249695 |
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)
|
rs34751342 |
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=)
|
rs17464525 |
NM_001253852.3(AP4B1):c.69A>G (p.Gln23=)
|
rs117872964 |
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu)
|
rs200120256 |
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser)
|
rs143043614 |
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
|
rs0 |
NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile)
|
rs1359060187 |
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu)
|
rs186163798 |
NM_001271.4(CHD2):c.2730A>T (p.Val910=)
|
rs77895180 |
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)
|
rs150268140 |
NM_001271.4(CHD2):c.330G>A (p.Arg110=)
|
rs138626801 |
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=)
|
rs141018126 |
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=)
|
rs79219767 |
NM_001271.4(CHD2):c.3735del (p.Lys1245fs)
|
rs752940775 |
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=)
|
rs35339954 |
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr)
|
rs780701076 |
NM_001271.4(CHD2):c.4990C>G (p.Gln1664Glu)
|
rs1057522158 |
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=)
|
rs139534358 |
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln)
|
rs61759469 |
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser)
|
rs772907727 |
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)
|
rs117844037 |
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp)
|
rs749147803 |
NM_001271.4(CHD2):c.960A>T (p.Thr320=)
|
rs149632554 |
NM_001272071.2(AP1S2):c.288T>C (p.Ser96=)
|
rs61741688 |
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=)
|
rs201131192 |
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=)
|
rs146782397 |
NM_001278116.2(L1CAM):c.2274G>A (p.Gly758=)
|
rs2071643 |
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462 |
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=)
|
rs4898371 |
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=)
|
rs139393266 |
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)
|
rs781908326 |
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=)
|
rs142277193 |
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=)
|
rs146526273 |
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=)
|
rs140678848 |
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=)
|
rs144708625 |
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=)
|
rs201204893 |
NM_001281463.1(SMC1A):c.*14C>T
|
rs112727682 |
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=)
|
rs139654605 |
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=)
|
rs142611198 |
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr)
|
rs200625964 |
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=)
|
rs144684998 |
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val)
|
rs564373258 |
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=)
|
rs142247083 |
NM_001282531.3(ADNP):c.393G>A (p.Pro131=)
|
rs201360495 |
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup)
|
rs577498739 |
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)
|
rs150688899 |
NM_001291867.2(NHS):c.207_209GCC[3] (p.Pro73del)
|
rs10590816 |
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)
|
rs398124605 |
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr)
|
rs149609550 |
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup)
|
rs398124607 |
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=)
|
rs56908561 |
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=)
|
rs56691712 |
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)
|
rs145005596 |
NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met)
|
rs141013518 |
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu)
|
rs3747295 |
NM_001291867.2(NHS):c.4043G>A (p.Arg1348His)
|
rs141525588 |
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn)
|
rs148418212 |
NM_001303626.1(RPL10):c.*156=
|
rs4909 |
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys)
|
rs200451158 |
NM_001318510.2(ACSL4):c.806+3A>G
|
rs183171123 |
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)
|
rs756986206 |
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys)
|
rs61753977 |
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)
|
rs150844616 |
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=)
|
rs139329419 |
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=)
|
rs143992148 |
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=)
|
rs371603866 |
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)
|
rs140332992 |
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=)
|
rs55640811 |
NM_001330078.2(NRXN1):c.1158+26A>T
|
rs201802152 |
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser)
|
rs78540316 |
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=)
|
rs201727684 |
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=)
|
rs201941844 |
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr)
|
rs201837579 |
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974 |
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile)
|
rs56086732 |
NM_001330078.2(NRXN1):c.2193C>T (p.Leu731=)
|
rs201466898 |
NM_001330078.2(NRXN1):c.2274C>A (p.Thr758=)
|
rs78030925 |
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=)
|
rs147984237 |
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=)
|
rs115211871 |
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn)
|
rs80293130 |
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)
|
rs201818223 |
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=)
|
rs192909520 |
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=)
|
rs200182626 |
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)
|
rs56402642 |
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=)
|
rs200698497 |
NM_001330078.2(NRXN1):c.3165A>G (p.Ser1055=)
|
rs1553656447 |
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=)
|
rs75275592 |
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=)
|
rs563089155 |
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=)
|
rs116236999 |
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=)
|
rs80094872 |
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=)
|
rs79970751 |
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=)
|
rs74714098 |
NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=)
|
rs143446587 |
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)
|
rs151195816 |
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=)
|
rs55923848 |
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=)
|
rs143495349 |
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=)
|
rs112536447 |
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)
|
rs113380721 |
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=)
|
rs200248561 |
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=)
|
rs1045874 |
NM_001330078.2(NRXN1):c.772+1078A>G
|
rs144049982 |
NM_001330078.2(NRXN1):c.833-5T>G
|
rs199712573 |
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=)
|
rs2303298 |
NM_001330260.2(SCN8A):c.1215G>A (p.Leu405=)
|
rs751093826 |
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)
|
rs149013279 |
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=)
|
rs187115247 |
NM_001330260.2(SCN8A):c.1509C>A (p.Leu503=)
|
rs376749872 |
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr)
|
rs367949317 |
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)
|
rs35242963 |
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1])
|
rs758276968 |
NM_001330260.2(SCN8A):c.1999-5del
|
rs769940455 |
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=)
|
rs146982102 |
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=)
|
rs372582842 |
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)
|
rs117217073 |
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=)
|
rs1349215930 |
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463 |
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)
|
rs115623439 |
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=)
|
rs144424662 |
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=)
|
rs143867796 |
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)
|
rs303815 |
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)
|
rs201458257 |
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=)
|
rs200728478 |
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=)
|
rs12301486 |
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)
|
rs60637 |
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=)
|
rs368449473 |
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro)
|
rs368796221 |
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)
|
rs4761829 |
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=)
|
rs555793953 |
NM_001330260.2(SCN8A):c.751C>T (p.Leu251=)
|
rs200307006 |
NM_001330574.2(ZNF711):c.2106A>G (p.Thr702=)
|
rs138675194 |
NM_001330574.2(ZNF711):c.453A>C (p.Gly151=)
|
rs139906124 |
NM_001330574.2(ZNF711):c.798A>G (p.Thr266=)
|
rs72549428 |
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro)
|
rs55720916 |
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=)
|
rs138086853 |
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=)
|
rs56375542 |
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val)
|
rs781988728 |
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=)
|
rs373866956 |
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637 |
NM_001356.4(DDX3X):c.969T>C (p.Thr323=)
|
rs368366114 |
NM_001360.2(DHCR7):c.1092G>A (p.Thr364=)
|
rs35946774 |
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln)
|
rs751604696 |
NM_001360.2(DHCR7):c.1362G>A (p.Lys454=)
|
rs147850435 |
NM_001360.2(DHCR7):c.1365C>T (p.Tyr455=)
|
rs557097410 |
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471 |
NM_001360.2(DHCR7):c.139C>T (p.Leu47=)
|
rs140721259 |
NM_001360.2(DHCR7):c.1410G>A (p.Leu470=)
|
rs375993195 |
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854 |
NM_001360.2(DHCR7):c.226G>A (p.Val76Ile)
|
rs368473756 |
NM_001360.2(DHCR7):c.25A>T (p.Ile9Phe)
|
rs115595829 |
NM_001360.2(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205 |
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232 |
NM_001360.2(DHCR7):c.549C>T (p.Cys183=)
|
rs115446684 |
NM_001360.2(DHCR7):c.570C>T (p.Ala190=)
|
rs74909468 |
NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser)
|
rs146867923 |
NM_001360.2(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607 |
NM_001360.2(DHCR7):c.927C>A (p.Gly309=)
|
rs149974099 |
NM_001360.2(DHCR7):c.987C>T (p.Pro329=)
|
rs145901607 |
NM_001360.2(DHCR7):c.99-4G>A
|
rs140748737 |
NM_001367721.1(CASK):c.1077G>A (p.Ala359=)
|
rs145641295 |
NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn)
|
rs201435578 |
NM_001367721.1(CASK):c.2172T>C (p.Asp724=)
|
rs199730401 |
NM_001367721.1(CASK):c.2175T>C (p.Leu725=)
|
rs757563548 |
NM_001367721.1(CASK):c.891A>G (p.Lys297=)
|
rs544979992 |
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622 |
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=)
|
rs75075497 |
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)
|
rs149496322 |
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882 |
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453 |
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=)
|
rs199679500 |
NM_001376.5(DYNC1H1):c.11691-4G>T
|
rs201810550 |
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684 |
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889 |
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657 |
NM_001376.5(DYNC1H1):c.256+4C>T
|
rs546058194 |
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082 |
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)
|
rs114021657 |
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=)
|
rs17540624 |
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215 |
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957 |
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile)
|
rs143421325 |
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531 |
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437 |
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211 |
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439 |
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=)
|
rs34013442 |
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480 |
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439 |
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094 |
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720 |
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=)
|
rs112811548 |
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=)
|
rs17541165 |
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179 |
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460 |
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)
|
rs145487328 |
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)
|
rs77113510 |
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=)
|
rs146220233 |
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029 |
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870 |
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935 |
NM_001482.3(GATM):c.1041C>T (p.Asp347=)
|
rs139599307 |
NM_001482.3(GATM):c.1252T>C (p.Leu418=)
|
rs1145086 |
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775 |
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
|
rs148564534 |
NM_001482.3(GATM):c.48G>T (p.Ala16=)
|
rs587780951 |
NM_001482.3(GATM):c.669T>C (p.Tyr223=)
|
rs151231277 |
NM_001493.3(GDI1):c.219T>C (p.Asn73=)
|
rs4834 |
NM_001493.3(GDI1):c.324C>T (p.Ser108=)
|
rs2230286 |
NM_002024.6(FMR1):c.1572C>T (p.Ser524=)
|
rs143889976 |
NM_002024.6(FMR1):c.1857C>T (p.Asp619=)
|
rs45540244 |
NM_002024.6(FMR1):c.414G>A (p.Arg138=)
|
rs25707 |
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)
|
rs29281 |
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=)
|
rs145588542 |
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)
|
rs144495959 |
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)
|
rs115466046 |
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys)
|
rs1130183 |
NM_002294.3(LAMP2):c.339C>T (p.Ser113=)
|
rs147369153 |
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195 |
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006 |
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387 |
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile)
|
rs41303733 |
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
|
rs148262378 |
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=)
|
rs146588152 |
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
|
rs143713841 |
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
|
rs139691746 |
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)
|
rs36095561 |
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)
|
rs148208753 |
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser)
|
rs140296303 |
NM_002578.5(PAK3):c.1185C>T (p.Leu395=)
|
rs150174049 |
NM_002578.5(PAK3):c.531G>A (p.Glu177=)
|
rs56270341 |
NM_002764.3(PRPS1):c.447G>A (p.Pro149=)
|
rs80338730 |
NM_002764.4(PRPS1):c.456A>G (p.Leu152=)
|
rs61735617 |
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287 |
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616 |
NM_002834.5(PTPN11):c.333-3T>C
|
rs146749153 |
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312 |
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile)
|
rs112095333 |
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931 |
NM_003042.4(SLC6A1):c.480G>T (p.Pro160=)
|
rs116620331 |
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=)
|
rs35450949 |
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=)
|
rs10964470 |
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser)
|
rs138129490 |
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=)
|
rs6601 |
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=)
|
rs77070978 |
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=)
|
rs61736900 |
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu)
|
rs2296212 |
NM_003070.5(SMARCA2):c.669_671GCA[12] (p.Gln238del)
|
rs113070757 |
NM_003070.5(SMARCA2):c.669_671GCA[15] (p.Gln237_Gln238dup)
|
rs113070757 |
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=)
|
rs10964525 |
NM_003159.2(CDKL5):c.2867G>A (p.Arg956His)
|
rs376557374 |
NM_003159.2(CDKL5):c.3003C>T (p.His1001=)
|
rs36022183 |
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=)
|
rs139155110 |
NM_003165.4(STXBP1):c.1320C>T (p.Ile440=)
|
rs370249358 |
NM_003165.4(STXBP1):c.1351G>A (p.Val451Ile)
|
rs150259704 |
NM_003165.4(STXBP1):c.1356C>T (p.Thr452=)
|
rs35099393 |
NM_003165.4(STXBP1):c.1404C>A (p.Ile468=)
|
rs777499631 |
NM_003165.4(STXBP1):c.1548C>T (p.Ser516=)
|
rs145304925 |
NM_003165.4(STXBP1):c.1662C>T (p.Tyr554=)
|
rs142595450 |
NM_003165.4(STXBP1):c.1680C>T (p.Asn560=)
|
rs201809337 |
NM_003165.4(STXBP1):c.250G>A (p.Val84Ile)
|
rs34830702 |
NM_003165.4(STXBP1):c.281C>T (p.Pro94Leu)
|
rs200802985 |
NM_003165.4(STXBP1):c.38-3T>C
|
rs138763389 |
NM_003165.4(STXBP1):c.627C>T (p.Leu209=)
|
rs567071026 |
NM_003165.4(STXBP1):c.6C>T (p.Ala2=)
|
rs144094037 |
NM_003165.4(STXBP1):c.846C>T (p.Asp282=)
|
rs58889246 |
NM_003165.4(STXBP1):c.888C>T (p.Ile296=)
|
rs201302013 |
NM_003179.2(SYP):c.877G>A (p.Gly293Ser)
|
rs139475570 |
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=)
|
rs148700620 |
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly)
|
rs143954823 |
NM_003611.3(OFD1):c.2052C>T (p.Ser684=)
|
rs61742891 |
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu)
|
rs146251034 |
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe)
|
rs375698090 |
NM_003611.3(OFD1):c.2619T>A (p.Ile873=)
|
rs797045847 |
NM_003611.3(OFD1):c.2631G>A (p.Lys877=)
|
rs797045848 |
NM_004056.6(CA8):c.309A>G (p.Pro103=)
|
rs73685412 |
NM_004056.6(CA8):c.327A>G (p.Glu109=)
|
rs7464181 |
NM_004056.6(CA8):c.334C>T (p.Leu112=)
|
rs61743130 |
NM_004056.6(CA8):c.576+5G>A
|
rs144839897 |
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=)
|
rs147546892 |
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=)
|
rs61733871 |
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=)
|
rs35353912 |
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=)
|
rs370000816 |
NM_004187.5(KDM5C):c.536G>A (p.Arg179His)
|
rs201805773 |
NM_004187.5(KDM5C):c.896G>A (p.Ser299Asn)
|
rs782163332 |
NM_004321.7(KIF1A):c.1476A>G (p.Pro492=)
|
rs35663732 |
NM_004321.7(KIF1A):c.204G>T (p.Ala68=)
|
rs141052770 |
NM_004321.7(KIF1A):c.2208C>T (p.Ala736=)
|
rs35945835 |
NM_004321.7(KIF1A):c.234C>T (p.Gly78=)
|
rs61744930 |
NM_004321.7(KIF1A):c.2358C>T (p.Ala786=)
|
rs62637652 |
NM_004321.7(KIF1A):c.2448C>T (p.Tyr816=)
|
rs199996308 |
NM_004321.7(KIF1A):c.2631C>T (p.Gly877=)
|
rs751977290 |
NM_004321.7(KIF1A):c.2655G>C (p.Val885=)
|
rs186881889 |
NM_004321.7(KIF1A):c.2676C>T (p.Ala892=)
|
rs116297894 |
NM_004321.7(KIF1A):c.2769C>T (p.Ser923=)
|
rs73102625 |
NM_004321.7(KIF1A):c.2782G>A (p.Val928Met)
|
rs183359489 |
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser)
|
rs143037290 |
NM_004321.7(KIF1A):c.2979C>T (p.His993=)
|
rs35664935 |
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=)
|
rs200149062 |
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=)
|
rs370286749 |
NM_004321.7(KIF1A):c.3549T>C (p.His1183=)
|
rs184931664 |
NM_004321.7(KIF1A):c.3585C>T (p.Arg1195=)
|
rs144520412 |
NM_004321.7(KIF1A):c.3840G>A (p.Pro1280=)
|
rs2241683 |
NM_004321.7(KIF1A):c.393C>T (p.Asn131=)
|
rs35139906 |
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val)
|
rs141441058 |
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=)
|
rs371737085 |
NM_004321.7(KIF1A):c.4509C>A (p.Thr1503=)
|
rs76974316 |
NM_004321.7(KIF1A):c.4572G>A (p.Pro1524=)
|
rs201418175 |
NM_004321.7(KIF1A):c.4614G>A (p.Leu1538=)
|
rs187810230 |
NM_004321.7(KIF1A):c.4740G>A (p.Gly1580=)
|
rs143815273 |
NM_004321.7(KIF1A):c.4767G>A (p.Thr1589=)
|
rs201733233 |
NM_004321.7(KIF1A):c.991T>C (p.Leu331=)
|
rs1063353 |
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)
|
rs61759495 |
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381 |
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)
|
rs148023511 |
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)
|
rs142047649 |
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685 |
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)
|
rs143247685 |
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)
|
rs146168040 |
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)
|
rs142528559 |
NM_004380.3(CREBBP):c.333C>T (p.Asn111=)
|
rs150229705 |
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=)
|
rs190121951 |
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=)
|
rs61731405 |
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883 |
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=)
|
rs546554430 |
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=)
|
rs554810606 |
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=)
|
rs200998860 |
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser)
|
rs139169188 |
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=)
|
rs763852812 |
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=)
|
rs73491896 |
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=)
|
rs62636220 |
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His)
|
rs142545779 |
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=)
|
rs142545779 |
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1])
|
rs778220523 |
NM_004380.3(CREBBP):c.681T>C (p.Pro227=)
|
rs201193684 |
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)
|
rs148904096 |
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr)
|
rs148781922 |
NM_004463.3(FGD1):c.1563C>T (p.Pro521=)
|
rs201996522 |
NM_004463.3(FGD1):c.1617G>A (p.Pro539=)
|
rs151184308 |
NM_004463.3(FGD1):c.2268C>T (p.Cys756=)
|
rs61734178 |
NM_004463.3(FGD1):c.2289G>A (p.Lys763=)
|
rs150865566 |
NM_004463.3(FGD1):c.2568C>T (p.Tyr856=)
|
rs61734179 |
NM_004463.3(FGD1):c.2757G>A (p.Ala919=)
|
rs61734180 |
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala)
|
rs147012050 |
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)
|
rs145644275 |
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr)
|
rs138723423 |
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)
|
rs28935498 |
NM_004484.3(GPC3):c.660C>T (p.Ser220=)
|
rs138450923 |
NM_004484.3(GPC3):c.826G>A (p.Gly276Ser)
|
rs141100113 |
NM_004541.4(NDUFA1):c.141G>C (p.Leu47=)
|
rs140064980 |
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316 |
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628 |
NM_004586.3(RPS6KA3):c.244-5T>C
|
rs192189478 |
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)
|
rs2230488 |
NM_004595.5(SMS):c.1026A>C (p.Ser342=)
|
rs61732077 |
NM_004595.5(SMS):c.569C>T (p.Thr190Ile)
|
rs201275730 |
NM_004595.5(SMS):c.714C>T (p.Gly238=)
|
rs760174828 |
NM_004595.5(SMS):c.978G>A (p.Ser326=)
|
rs150564614 |
NM_004615.3(TSPAN7):c.237T>C (p.Ala79=)
|
rs7049247 |
NM_004615.3(TSPAN7):c.441C>T (p.Ser147=)
|
rs111440990 |
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His)
|
rs104894951 |
NM_004830.4(MED23):c.2814G>A (p.Ala938=)
|
rs145230681 |
NM_004830.4(MED23):c.3312T>C (p.Ala1104=)
|
rs77187818 |
NM_004830.4(MED23):c.40-18dup
|
rs200823095 |
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg)
|
rs147131853 |
NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=)
|
rs12008084 |
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His)
|
rs35106300 |
NM_004840.3(ARHGEF6):c.891G>T (p.Gln297His)
|
rs5974620 |
NM_005120.3(MED12):c.1167G>A (p.Lys389=)
|
rs374324656 |
NM_005120.3(MED12):c.3204C>T (p.Pro1068=)
|
rs201807437 |
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619 |
NM_005120.3(MED12):c.4179A>C (p.Ser1393=)
|
rs376058351 |
NM_005120.3(MED12):c.5535C>T (p.Asn1845=)
|
rs34784349 |
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)
|
rs147354926 |
NM_005120.3(MED12):c.6208_6210CAG[8] (p.Gln2076dup)
|
rs757160341 |
NM_005120.3(MED12):c.6208_6210CAG[9] (p.Gln2075_Gln2076dup)
|
rs757160341 |
NM_005120.3(MED12):c.6241_6243CAG[5] (p.Gln2086del)
|
rs786200971 |
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200 |
NM_005249.5(FOXG1):c.*4C>T
|
rs774917687 |
NM_005249.5(FOXG1):c.1161G>A (p.Ser387=)
|
rs147154860 |
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)
|
rs144434028 |
NM_005249.5(FOXG1):c.141_143CCA[6] (p.His57del)
|
rs587783630 |
NM_005249.5(FOXG1):c.209_211AGC[5] (p.Gln73dup)
|
rs398124201 |
NM_005249.5(FOXG1):c.209_229del (p.Gln70_Pro76del)
|
rs1466028633 |
NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup)
|
rs587783634 |
NM_005249.5(FOXG1):c.219_221GCC[7] (p.Pro80dup)
|
rs786200975 |
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln)
|
rs796052453 |
NM_005249.5(FOXG1):c.447C>T (p.Ala149=)
|
rs112803404 |
NM_005249.5(FOXG1):c.489C>T (p.Gly163=)
|
rs375378714 |
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala)
|
rs148157138 |
NM_005333.5(HCCS):c.215C>T (p.Ala72Val)
|
rs2070163 |
NM_005333.5(HCCS):c.216G>C (p.Ala72=)
|
rs144152239 |
NM_005445.3(SMC3):c.2007T>C (p.Tyr669=)
|
rs147404470 |
NM_005445.3(SMC3):c.2268+4C>T
|
rs587784426 |
NM_005445.3(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999 |
NM_005445.3(SMC3):c.255A>G (p.Ser85=)
|
rs146433240 |
NM_005445.3(SMC3):c.255A>T (p.Ser85=)
|
rs146433240 |
NM_005445.3(SMC3):c.3339A>G (p.Gln1113=)
|
rs189703529 |
NM_005445.3(SMC3):c.3495T>A (p.Ala1165=)
|
rs142395521 |
NM_005445.3(SMC3):c.548-5_548-4dup
|
rs199906378 |
NM_005522.4(HOXA1):c.174G>C (p.Gly58=)
|
rs77832452 |
NM_005522.4(HOXA1):c.566A>C (p.Glu189Ala)
|
rs17500494 |
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=)
|
rs140115896 |
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=)
|
rs143916832 |
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser)
|
rs199635059 |
NM_005629.4(SLC6A8):c.777+4C>T
|
rs201581661 |
NM_005629.4(SLC6A8):c.813C>T (p.Val271=)
|
rs138064933 |
NM_005634.2(SOX3):c.14G>A (p.Arg5Gln)
|
rs112180170 |
NM_005634.2(SOX3):c.157G>C (p.Val53Leu)
|
rs200361128 |
NM_005660.3(SLC35A2):c.990C>T (p.Leu330=)
|
rs146079657 |
NM_005710.2(PQBP1):c.180-3C>T
|
rs741932 |
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)
|
rs150392503 |
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)
|
rs9014 |
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=)
|
rs34217273 |
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro)
|
rs35798522 |
NM_005859.5(PURA):c.132_134CGG[6] (p.Gly49dup)
|
rs754074166 |
NM_005859.5(PURA):c.621C>T (p.Asp207=)
|
rs142688247 |
NM_006013.4(RPL10):c.291C>T (p.Ile97=)
|
rs138325578 |
NM_006279.5(ST3GAL3):c.1075C>T (p.Leu359=)
|
rs200457973 |
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)
|
rs115003742 |
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=)
|
rs12140044 |
NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=)
|
rs201204481 |
NM_006279.5(ST3GAL3):c.900T>C (p.Pro300=)
|
rs563317319 |
NM_006359.3(SLC9A6):c.*8A>T
|
rs200171451 |
NM_006359.3(SLC9A6):c.1143G>A (p.Leu381=)
|
rs151178361 |
NM_006359.3(SLC9A6):c.1607G>A (p.Arg536Gln)
|
rs146263125 |
NM_006359.3(SLC9A6):c.1659C>T (p.Ser553=)
|
rs2307131 |
NM_006359.3(SLC9A6):c.25G>T (p.Ala9Ser)
|
rs201523857 |
NM_006359.3(SLC9A6):c.698-5A>G
|
rs1057520615 |
NM_006516.3(SLC2A1):c.-2C>T
|
rs587784388 |
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735 |
NM_006516.3(SLC2A1):c.1023C>T (p.Leu341=)
|
rs143588685 |
NM_006516.3(SLC2A1):c.1155C>T (p.Pro385=)
|
rs76860965 |
NM_006516.3(SLC2A1):c.1296C>T (p.Tyr432=)
|
rs75485205 |
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424 |
NM_006516.3(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918 |
NM_006516.3(SLC2A1):c.498C>T (p.Val166=)
|
rs150971143 |
NM_006516.3(SLC2A1):c.507C>T (p.Leu169=)
|
rs115541691 |
NM_006516.3(SLC2A1):c.679+4C>T
|
rs139492241 |
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)
|
rs199904356 |
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys)
|
rs144755294 |
NM_006565.4(CTCF):c.1164C>T (p.Ser388=)
|
rs143837268 |
NM_006565.4(CTCF):c.1887C>T (p.Ala629=)
|
rs149766428 |
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser)
|
rs145727304 |
NM_006565.4(CTCF):c.2139C>T (p.Asn713=)
|
rs146712579 |
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035 |
NM_006765.4(TUSC3):c.912G>A (p.Ser304=)
|
rs17121892 |
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly)
|
rs149459548 |
NM_006766.5(KAT6A):c.1477C>T (p.Leu493=)
|
rs61753684 |
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr)
|
rs113195648 |
NM_006766.5(KAT6A):c.4956A>G (p.Pro1652=)
|
rs201475966 |
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])
|
rs548231613 |
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val)
|
rs750315709 |
NM_006766.5(KAT6A):c.5913C>T (p.Asn1971=)
|
rs140266175 |
NM_006766.5(KAT6A):c.5994C>T (p.Asn1998=)
|
rs117270099 |
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=)
|
rs72887798 |
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=)
|
rs7759963 |
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=)
|
rs411136 |
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=)
|
rs150153477 |
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=)
|
rs75579703 |
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=)
|
rs73402305 |
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=)
|
rs375587730 |
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=)
|
rs61421477 |
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=)
|
rs139841529 |
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=)
|
rs555363112 |
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=)
|
rs145694123 |
NM_006920.6(SCN1A):c.1378-3T>C
|
rs150964803 |
NM_006950.3(SYN1):c.1026G>A (p.Ala342=)
|
rs777301855 |
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483 |
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370 |
NM_006950.3(SYN1):c.1968G>A (p.Pro656=)
|
rs199844514 |
NM_006950.3(SYN1):c.510T>C (p.Asn170=)
|
rs1142636 |
NM_006950.3(SYN1):c.526C>T (p.Arg176Trp)
|
rs769458536 |
NM_006950.3(SYN1):c.912C>T (p.Ala304=)
|
rs62636605 |
NM_007137.3(ZNF81):c.1911G>A (p.Pro637=)
|
rs663514 |
NM_007137.3(ZNF81):c.350G>T (p.Gly117Val)
|
rs17147793 |
NM_007137.3(ZNF81):c.470A>G (p.Asn157Ser)
|
rs41312157 |
NM_007137.3(ZNF81):c.638C>A (p.Ala213Glu)
|
rs537825 |
NM_007254.4(PNKP):c.*15C>T
|
rs1050332 |
NM_007254.4(PNKP):c.1032G>A (p.Arg344=)
|
rs185452809 |
NM_007254.4(PNKP):c.1257C>T (p.Val419=)
|
rs369003964 |
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly)
|
rs549000007 |
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895 |
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)
|
rs116192442 |
NM_007254.4(PNKP):c.1497G>A (p.Leu499=)
|
rs142199280 |
NM_007254.4(PNKP):c.1557C>T (p.Ser519=)
|
rs142180374 |
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250 |
NM_007254.4(PNKP):c.501G>A (p.Val167=)
|
rs142143566 |
NM_007254.4(PNKP):c.519C>T (p.Asp173=)
|
rs144284975 |
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185 |
NM_007254.4(PNKP):c.564C>T (p.Gly188=)
|
rs574408360 |
NM_007254.4(PNKP):c.579G>A (p.Arg193=)
|
rs145904995 |
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn)
|
rs3739186 |
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)
|
rs3739168 |
NM_007254.4(PNKP):c.603dup (p.Lys202Ter)
|
rs796052859 |
NM_007254.4(PNKP):c.627G>A (p.Glu209=)
|
rs532550120 |
NM_007254.4(PNKP):c.672C>T (p.Arg224=)
|
rs151180981 |
NM_007254.4(PNKP):c.783G>A (p.Pro261=)
|
rs145307985 |
NM_007254.4(PNKP):c.831G>A (p.Thr277=)
|
rs148491228 |
NM_007254.4(PNKP):c.939T>C (p.Phe313=)
|
rs149731642 |
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln)
|
rs138817389 |
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=)
|
rs502434 |
NM_007325.5(GRIA3):c.15G>A (p.Lys5=)
|
rs61740996 |
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr)
|
rs1057521721 |
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr)
|
rs151086692 |
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=)
|
rs145176345 |
NM_007327.4(GRIN1):c.1044C>T (p.Phe348=)
|
rs143483243 |
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=)
|
rs116006955 |
NM_007327.4(GRIN1):c.1809G>C (p.Leu603=)
|
rs141249927 |
NM_007327.4(GRIN1):c.2223G>C (p.Ser741=)
|
rs767848286 |
NM_007327.4(GRIN1):c.2241G>C (p.Val747=)
|
rs116354349 |
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=)
|
rs79570612 |
NM_007327.4(GRIN1):c.525G>A (p.Ala175=)
|
rs77812749 |
NM_007327.4(GRIN1):c.705C>T (p.Ala235=)
|
rs201343933 |
NM_007327.4(GRIN1):c.768G>C (p.Gly256=)
|
rs141473515 |
NM_007327.4(GRIN1):c.789A>G (p.Pro263=)
|
rs6293 |
NM_007327.4(GRIN1):c.855G>A (p.Val285=)
|
rs1126442 |
NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu)
|
rs78979358 |
NM_012280.4(FTSJ1):c.495C>T (p.Leu165=)
|
rs34407506 |
NM_012280.4(FTSJ1):c.738G>A (p.Ser246=)
|
rs140074225 |
NM_013995.2(LAMP2):c.461A>G (p.Asn154Ser)
|
rs773525538 |
NM_014141.6(CNTNAP2):c.1032C>T (p.Gly344=)
|
rs142122012 |
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845 |
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=)
|
rs78543192 |
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=)
|
rs141439475 |
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)
|
rs371839994 |
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser)
|
rs143877693 |
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val)
|
rs34456867 |
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=)
|
rs79039458 |
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)
|
rs56356283 |
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=)
|
rs370095062 |
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=)
|
rs774328147 |
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=)
|
rs34592169 |
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=)
|
rs61732849 |
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)
|
rs148453565 |
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=)
|
rs74354654 |
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)
|
rs10240503 |
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=)
|
rs143286960 |
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
|
rs149185385 |
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=)
|
rs148104020 |
NM_014141.6(CNTNAP2):c.2895C>A (p.Gly965=)
|
rs75688908 |
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=)
|
rs112483670 |
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=)
|
rs368108883 |
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=)
|
rs61732853 |
NM_014141.6(CNTNAP2):c.3248-4A>G
|
rs3779031 |
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
|
rs141078449 |
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=)
|
rs77789547 |
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=)
|
rs138477292 |
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=)
|
rs142331907 |
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=)
|
rs201219937 |
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)
|
rs9648691 |
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr)
|
rs767821521 |
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=)
|
rs143856702 |
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=)
|
rs201200400 |
NM_014141.6(CNTNAP2):c.681C>T (p.His227=)
|
rs142984073 |
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=)
|
rs61732854 |
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala)
|
rs150918383 |
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=)
|
rs143600441 |
NM_014467.3(SRPX2):c.481C>A (p.Arg161=)
|
rs150552508 |
NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln)
|
rs0 |
NM_014491.4(FOXP2):c.1371T>C (p.Ile457=)
|
rs61753357 |
NM_014491.4(FOXP2):c.1843G>A (p.Ala615Thr)
|
rs182138317 |
NM_014491.4(FOXP2):c.483A>G (p.Gln161=)
|
rs62640396 |
NM_014491.4(FOXP2):c.510_512ACA[4] (p.Gln191del)
|
rs398124272 |
NM_014491.4(FOXP2):c.552A>G (p.Gln184=)
|
rs146945410 |
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)
|
rs146673563 |
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile)
|
rs201881288 |
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=)
|
rs34890427 |
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836 |
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=)
|
rs145201706 |
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)
|
rs112581563 |
NM_014795.4(ZEB2):c.2361T>C (p.Asn787=)
|
rs201567433 |
NM_014795.4(ZEB2):c.2766A>T (p.Pro922=)
|
rs185223937 |
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe)
|
rs201109457 |
NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val)
|
rs199951665 |
NM_014795.4(ZEB2):c.489C>T (p.Ile163=)
|
rs138859323 |
NM_014795.4(ZEB2):c.759C>T (p.Arg253=)
|
rs150853991 |
NM_014795.4(ZEB2):c.798G>C (p.Gly266=)
|
rs34961586 |
NM_014795.4(ZEB2):c.9G>C (p.Gln3His)
|
rs149882004 |
NM_015100.4(POGZ):c.1788A>G (p.Gln596=)
|
rs144945886 |
NM_015100.4(POGZ):c.222C>T (p.Ser74=)
|
rs145999381 |
NM_015100.4(POGZ):c.2634C>G (p.Ser878=)
|
rs138843201 |
NM_015100.4(POGZ):c.2669C>T (p.Ala890Val)
|
rs141251585 |
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg)
|
rs145570114 |
NM_015100.4(POGZ):c.2913G>A (p.Glu971=)
|
rs113903415 |
NM_015100.4(POGZ):c.3237C>T (p.His1079=)
|
rs149003420 |
NM_015100.4(POGZ):c.3297G>A (p.Glu1099=)
|
rs116755407 |
NM_015100.4(POGZ):c.4104T>A (p.Thr1368=)
|
rs1571294 |
NM_015100.4(POGZ):c.747C>T (p.Thr249=)
|
rs148175159 |
NM_015100.4(POGZ):c.753C>T (p.Ser251=)
|
rs142434646 |
NM_015107.3(PHF8):c.2131G>A (p.Glu711Lys)
|
rs41306749 |
NM_015107.3(PHF8):c.219T>A (p.Asp73Glu)
|
rs148664730 |
NM_015107.3(PHF8):c.2720G>A (p.Arg907His)
|
rs142630105 |
NM_015107.3(PHF8):c.2790_2792CTC[2] (p.Ser933del)
|
rs782660284 |
NM_016219.5(MAN1B1):c.120_122GCC[6] (p.Pro45dup)
|
rs538804415 |
NM_016219.5(MAN1B1):c.1255-5C>T
|
rs73569532 |
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555 |
NM_016219.5(MAN1B1):c.1765-5C>A
|
rs12115325 |
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser)
|
rs968733 |
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316 |
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=)
|
rs140496149 |
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958 |
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=)
|
rs4880091 |
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=)
|
rs118117962 |
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu)
|
rs147529965 |
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795 |
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu)
|
rs73569515 |
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463 |
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His)
|
rs114057640 |
NM_016729.3(FOLR1):c.157T>C (p.Leu53=)
|
rs143413500 |
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp)
|
rs76191655 |
NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)
|
rs145674759 |
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)
|
rs139633601 |
NM_017519.2(ARID1B):c.1029_1043del (p.Ala346_Ala350del)
|
rs775733700 |
NM_017519.2(ARID1B):c.1032_1034GGC[5] (p.Ala350dup)
|
rs764418312 |
NM_017519.2(ARID1B):c.103_105TCC[6] (p.Ser41del)
|
rs770512547 |
NM_017519.2(ARID1B):c.1043_1045CAG[4] (p.Ala350dup)
|
rs797045267 |
NM_017519.2(ARID1B):c.1054_1056GGC[5] (p.Gly357del)
|
rs797045268 |
NM_017519.2(ARID1B):c.1054_1056GGC[7] (p.Gly357dup)
|
rs797045268 |
NM_017519.2(ARID1B):c.257_277ACCACCACCATGCCCACCACC[1] (p.86_92HHHHAHH[1])
|
rs767952510 |
NM_017519.2(ARID1B):c.342_344GCA[8] (p.Gln131dup)
|
rs587779743 |
NM_017519.2(ARID1B):c.366_368GCA[6] (p.Gln131del)
|
rs587779744 |
NM_017519.2(ARID1B):c.366_368GCA[9] (p.Gln130_Gln131dup)
|
rs587779744 |
NM_017519.2(ARID1B):c.679_680delinsCC (p.Val227Pro)
|
rs1554247605 |
NM_017519.2(ARID1B):c.921_923CGG[9] (p.Gly319dup)
|
rs587779747 |
NM_017519.2(ARID1B):c.962_964GAG[6] (p.Gly327_Gly328del)
|
rs747790383 |
NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro)
|
rs11883041 |
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
|
rs191830054 |
NM_017721.5(CC2D1A):c.1281T>C (p.Gly427=)
|
rs10410239 |
NM_017721.5(CC2D1A):c.1357-2A>C
|
rs200557641 |
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu)
|
rs143529486 |
NM_017721.5(CC2D1A):c.1449C>G (p.Pro483=)
|
rs201221633 |
NM_017721.5(CC2D1A):c.1521C>T (p.Ala507=)
|
rs35337537 |
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)
|
rs202057391 |
NM_017721.5(CC2D1A):c.1974C>T (p.Leu658=)
|
rs147905122 |
NM_017721.5(CC2D1A):c.2088A>G (p.Lys696=)
|
rs73925404 |
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met)
|
rs2305777 |
NM_017721.5(CC2D1A):c.2430C>G (p.Asp810Glu)
|
rs199683318 |
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser)
|
rs56359259 |
NM_017721.5(CC2D1A):c.252G>A (p.Pro84=)
|
rs7250180 |
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr)
|
rs11669628 |
NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val)
|
rs192358667 |
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val)
|
rs61740117 |
NM_017721.5(CC2D1A):c.698C>T (p.Ala233Val)
|
rs181548764 |
NM_017721.5(CC2D1A):c.905G>A (p.Arg302Gln)
|
rs73922801 |
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)
|
rs200121704 |
NM_017755.6(NSUN2):c.123C>T (p.Ile41=)
|
rs112327056 |
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=)
|
rs13181449 |
NM_017755.6(NSUN2):c.2043G>A (p.Arg681=)
|
rs150785220 |
NM_017755.6(NSUN2):c.2060G>A (p.Arg687Gln)
|
rs756450204 |
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile)
|
rs112951498 |
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=)
|
rs3822434 |
NM_017755.6(NSUN2):c.21T>C (p.Gly7=)
|
rs184594943 |
NM_017755.6(NSUN2):c.222C>T (p.Leu74=)
|
rs138716662 |
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg)
|
rs149244771 |
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln)
|
rs61744358 |
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln)
|
rs140673211 |
NM_017755.6(NSUN2):c.51G>A (p.Glu17=)
|
rs10062086 |
NM_017755.6(NSUN2):c.612C>A (p.Val204=)
|
rs148924682 |
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr)
|
rs564938323 |
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525 |
NM_017780.4(CHD7):c.1179A>G (p.Pro393=)
|
rs111238892 |
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285 |
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299 |
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749 |
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623 |
NM_017780.4(CHD7):c.216T>C (p.Tyr72=)
|
rs16926453 |
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437 |
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938 |
NM_017780.4(CHD7):c.2377-3dup
|
rs752271550 |
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638 |
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)
|
rs117506164 |
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759 |
NM_017780.4(CHD7):c.360C>T (p.Gly120=)
|
rs375438732 |
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser)
|
rs190548814 |
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)
|
rs181927766 |
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=)
|
rs191081055 |
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)
|
rs79203206 |
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr)
|
rs201423234 |
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172 |
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)
|
rs61753399 |
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301 |
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=)
|
rs370385319 |
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)
|
rs554647169 |
NM_017780.4(CHD7):c.7165-5A>G
|
rs376076407 |
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=)
|
rs61746518 |
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=)
|
rs187311127 |
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)
|
rs754894988 |
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249 |
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
|
rs61742801 |
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser)
|
rs201319489 |
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933 |
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)
|
rs375204972 |
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu)
|
rs147534616 |
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)
|
rs202039728 |
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=)
|
rs61736186 |
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile)
|
rs138127778 |
NM_017890.4(VPS13B):c.10127A>T (p.Asn3376Ile)
|
rs111353525 |
NM_017890.4(VPS13B):c.10230G>A (p.Glu3410=)
|
rs115369860 |
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg)
|
rs6468694 |
NM_017890.4(VPS13B):c.10310C>T (p.Ala3437Val)
|
rs112045467 |
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=)
|
rs145279584 |
NM_017890.4(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010 |
NM_017890.4(VPS13B):c.10819A>G (p.Ile3607Val)
|
rs145547375 |
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=)
|
rs61754107 |
NM_017890.4(VPS13B):c.11013C>T (p.Val3671=)
|
rs758028194 |
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr)
|
rs142476821 |
NM_017890.4(VPS13B):c.11256A>G (p.Arg3752=)
|
rs138667007 |
NM_017890.4(VPS13B):c.11640A>G (p.Ser3880=)
|
rs7844645 |
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=)
|
rs139436386 |
NM_017890.4(VPS13B):c.11694G>C (p.Val3898=)
|
rs113454700 |
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324 |
NM_017890.4(VPS13B):c.1293T>G (p.Thr431=)
|
rs77759532 |
NM_017890.4(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814 |
NM_017890.4(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109 |
NM_017890.4(VPS13B):c.2275G>C (p.Val759Leu)
|
rs140848350 |
NM_017890.4(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721 |
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067 |
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn)
|
rs148777544 |
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=)
|
rs138661755 |
NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316 |
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722 |
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485 |
NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347 |
NM_017890.4(VPS13B):c.3744A>G (p.Leu1248=)
|
rs16897391 |
NM_017890.4(VPS13B):c.3837C>T (p.Cys1279=)
|
rs34941871 |
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846 |
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln)
|
rs75933366 |
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met)
|
rs117148013 |
NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=)
|
rs368851580 |
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val)
|
rs139640224 |
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser)
|
rs142248228 |
NM_017890.4(VPS13B):c.7038A>G (p.Val2346=)
|
rs61753724 |
NM_017890.4(VPS13B):c.7052G>A (p.Arg2351Gln)
|
rs61754113 |
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=)
|
rs61753725 |
NM_017890.4(VPS13B):c.7413T>C (p.Phe2471=)
|
rs150771329 |
NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala)
|
rs7833870 |
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys)
|
rs111751379 |
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn)
|
rs140179844 |
NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys)
|
rs138453594 |
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu)
|
rs145890213 |
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser)
|
rs28940272 |
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=)
|
rs36074608 |
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp)
|
rs149842139 |
NM_018026.4(PACS1):c.102G>A (p.Pro34=)
|
rs75352646 |
NM_018026.4(PACS1):c.1617C>T (p.His539=)
|
rs113972076 |
NM_018026.4(PACS1):c.2061T>A (p.Ser687=)
|
rs572697 |
NM_018026.4(PACS1):c.2777-3T>C
|
rs524268 |
NM_018328.4(MBD5):c.1111C>G (p.Gln371Glu)
|
rs536900412 |
NM_018328.4(MBD5):c.1368G>T (p.Ser456=)
|
rs146020786 |
NM_018328.4(MBD5):c.1638C>T (p.Ala546=)
|
rs116413446 |
NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn)
|
rs114314967 |
NM_018328.4(MBD5):c.2254A>G (p.Ile752Val)
|
rs147455836 |
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577 |
NM_018328.4(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524 |
NM_018328.4(MBD5):c.2978A>C (p.Gln993Pro)
|
rs761395486 |
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg)
|
rs143028540 |
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile)
|
rs145475623 |
NM_018328.4(MBD5):c.3243T>A (p.Gly1081=)
|
rs115816749 |
NM_018328.4(MBD5):c.3702C>T (p.Val1234=)
|
rs144957555 |
NM_018328.4(MBD5):c.3896G>A (p.Arg1299Gln)
|
rs35934694 |
NM_018328.4(MBD5):c.422G>A (p.Arg141Gln)
|
rs200245855 |
NM_018328.4(MBD5):c.60A>G (p.Gln20=)
|
rs1057522537 |
NM_018328.4(MBD5):c.69G>A (p.Val23=)
|
rs151204004 |
NM_018328.4(MBD5):c.884C>G (p.Thr295Ser)
|
rs368339420 |
NM_018328.4(MBD5):c.961A>G (p.Met321Val)
|
rs369869865 |
NM_020717.3(SHROOM4):c.1627A>T (p.Thr543Ser)
|
rs61748324 |
NM_020717.3(SHROOM4):c.3734C>T (p.Ser1245Leu)
|
rs12689863 |
NM_020717.3(SHROOM4):c.4066G>A (p.Val1356Ile)
|
rs137923286 |
NM_020717.3(SHROOM4):c.439C>T (p.His147Tyr)
|
rs111940781 |
NM_020732.3(ARID1B):c.1088C>T (p.Ala363Val)
|
rs748273011 |
NM_020732.3(ARID1B):c.1678A>G (p.Ile560Val)
|
rs17318151 |
NM_020732.3(ARID1B):c.1977C>T (p.Pro659=)
|
rs146240413 |
NM_020732.3(ARID1B):c.2895C>T (p.Pro965=)
|
rs144894118 |
NM_020732.3(ARID1B):c.2896G>A (p.Gly966Ser)
|
rs34786733 |
NM_020732.3(ARID1B):c.2978A>T (p.Gln993Leu)
|
rs139620600 |
NM_020732.3(ARID1B):c.2985G>A (p.Pro995=)
|
rs537901478 |
NM_020732.3(ARID1B):c.3399C>T (p.Thr1133=)
|
rs142391292 |
NM_020732.3(ARID1B):c.3946G>A (p.Gly1316Arg)
|
rs199674889 |
NM_020732.3(ARID1B):c.4495A>T (p.Met1499Leu)
|
rs34870395 |
NM_020732.3(ARID1B):c.4658C>T (p.Ala1553Val)
|
rs762698567 |
NM_020732.3(ARID1B):c.5015A>G (p.Asn1672Ser)
|
rs140177120 |
NM_020732.3(ARID1B):c.5802C>T (p.Ile1934=)
|
rs142499766 |
NM_020732.3(ARID1B):c.6594G>A (p.Ala2198=)
|
rs754242891 |
NM_020732.3(ARID1B):c.6654C>T (p.His2218=)
|
rs183572405 |
NM_020732.3(ARID1B):c.69G>A (p.Ala23=)
|
rs533182720 |
NM_020732.3(ARID1B):c.942C>A (p.Gly314=)
|
rs184815562 |
NM_020988.3(GNAO1):c.27G>A (p.Glu9=)
|
rs139334934 |
NM_020988.3(GNAO1):c.414A>G (p.Gln138=)
|
rs141057479 |
NM_021072.4(HCN1):c.124C>T (p.Pro42Ser)
|
rs56164833 |
NM_021072.4(HCN1):c.140G>T (p.Gly47Val)
|
rs544994462 |
NM_021072.4(HCN1):c.159C>G (p.His53Gln)
|
rs10066808 |
NM_021072.4(HCN1):c.1619-3T>C
|
rs376434225 |
NM_021072.4(HCN1):c.1783+4C>T
|
rs188586020 |
NM_021072.4(HCN1):c.1797A>G (p.Ser599=)
|
rs148932124 |
NM_021072.4(HCN1):c.203_205GCG[4] (p.Gly72_Gly74del)
|
rs747975797 |
NM_021072.4(HCN1):c.203_205GCG[5] (p.Gly73_Gly74del)
|
rs747975797 |
NM_021072.4(HCN1):c.2172C>T (p.Ala724=)
|
rs56217199 |
NM_021072.4(HCN1):c.336C>A (p.Arg112=)
|
rs794726951 |
NM_021120.4(DLG3):c.2076C>T (p.Ile692=)
|
rs535820581 |
NM_021120.4(DLG3):c.409-4G>T
|
rs188475429 |
NM_021120.4(DLG3):c.429C>T (p.Phe143=)
|
rs144225009 |
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969 |
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691 |
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)
|
rs56351817 |
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)
|
rs200916673 |
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met)
|
rs201883464 |
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln)
|
rs137955309 |
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=)
|
rs140048110 |
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304 |
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=)
|
rs56126202 |
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr)
|
rs151181674 |
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069 |
NM_022455.4(NSD1):c.1064-5C>A
|
rs961502921 |
NM_022455.4(NSD1):c.1149C>T (p.Ile383=)
|
rs34921128 |
NM_022455.4(NSD1):c.1364T>C (p.Met455Thr)
|
rs143585233 |
NM_022455.4(NSD1):c.1690G>T (p.Ala564Ser)
|
rs116520623 |
NM_022455.4(NSD1):c.1980C>T (p.Asn660=)
|
rs140072393 |
NM_022455.4(NSD1):c.2169C>T (p.Thr723=)
|
rs11948062 |
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe)
|
rs115722008 |
NM_022455.4(NSD1):c.2465C>G (p.Ser822Cys)
|
rs377684553 |
NM_022455.4(NSD1):c.2835T>C (p.Ser945=)
|
rs145987330 |
NM_022455.4(NSD1):c.3088T>C (p.Leu1030=)
|
rs61756006 |
NM_022455.4(NSD1):c.3150C>T (p.Thr1050=)
|
rs144257298 |
NM_022455.4(NSD1):c.3187A>G (p.Thr1063Ala)
|
rs193290006 |
NM_022455.4(NSD1):c.3215G>A (p.Arg1072Gln)
|
rs28932180 |
NM_022455.4(NSD1):c.3393C>T (p.Asn1131=)
|
rs150296373 |
NM_022455.4(NSD1):c.339C>T (p.Cys113=)
|
rs77093936 |
NM_022455.4(NSD1):c.3564G>C (p.Arg1188Ser)
|
rs199814669 |
NM_022455.4(NSD1):c.4564G>A (p.Asp1522Asn)
|
rs201483724 |
NM_022455.4(NSD1):c.4564G>T (p.Asp1522Tyr)
|
rs201483724 |
NM_022455.4(NSD1):c.5520A>G (p.Glu1840=)
|
rs140815139 |
NM_022455.4(NSD1):c.6829T>C (p.Leu2277=)
|
rs28580074 |
NM_022455.4(NSD1):c.760C>T (p.Leu254Phe)
|
rs149334244 |
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser)
|
rs77618751 |
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=)
|
rs143159630 |
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=)
|
rs1129767 |
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=)
|
rs1129768 |
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr)
|
rs11137198 |
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly)
|
rs79514677 |
NM_024757.5(EHMT1):c.129A>T (p.Ala43=)
|
rs76684726 |
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=)
|
rs45450992 |
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr)
|
rs78104547 |
NM_024757.5(EHMT1):c.150G>A (p.Ala50=)
|
rs371344592 |
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser)
|
rs184814386 |
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=)
|
rs7868455 |
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=)
|
rs139206060 |
NM_024757.5(EHMT1):c.211A>G (p.Lys71Glu)
|
rs794727519 |
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val)
|
rs144085805 |
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=)
|
rs35943616 |
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn)
|
rs138283222 |
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met)
|
rs33999936 |
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=)
|
rs11137244 |
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu)
|
rs144603232 |
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=)
|
rs367688971 |
NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val)
|
rs560251933 |
NM_024757.5(EHMT1):c.354T>G (p.Ser118=)
|
rs142271310 |
NM_024757.5(EHMT1):c.369C>T (p.Asn123=)
|
rs770086341 |
NM_024757.5(EHMT1):c.444T>C (p.Pro148=)
|
rs3812497 |
NM_024757.5(EHMT1):c.480C>T (p.Gly160=)
|
rs150135875 |
NM_024757.5(EHMT1):c.576G>A (p.Pro192=)
|
rs574514175 |
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu)
|
rs35570782 |
NM_024757.5(EHMT1):c.824-5_824-3del
|
rs34385417 |
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg)
|
rs565065320 |
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg)
|
rs201393598 |
NM_030665.4(RAI1):c.1279C>T (p.Leu427=)
|
rs34898721 |
NM_030665.4(RAI1):c.1524G>A (p.Thr508=)
|
rs141826168 |
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg)
|
rs147091667 |
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185 |
NM_030665.4(RAI1):c.1992G>A (p.Pro664=)
|
rs8067439 |
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr)
|
rs370671656 |
NM_030665.4(RAI1):c.264G>A (p.Gln88=)
|
rs61999281 |
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)
|
rs3803763 |
NM_030665.4(RAI1):c.2728T>G (p.Ser910Ala)
|
rs745515458 |
NM_030665.4(RAI1):c.2907C>T (p.Asp969=)
|
rs141757356 |
NM_030665.4(RAI1):c.3030C>A (p.Ala1010=)
|
rs542714936 |
NM_030665.4(RAI1):c.3158C>T (p.Pro1053Leu)
|
rs748386061 |
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=)
|
rs139448147 |
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg)
|
rs200719553 |
NM_030665.4(RAI1):c.3778_3780GAG[1] (p.Glu1261del)
|
rs149716029 |
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu)
|
rs34521483 |
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu)
|
rs201405375 |
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=)
|
rs4925112 |
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg)
|
rs140063274 |
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=)
|
rs35686634 |
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu)
|
rs202158738 |
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr)
|
rs11649804 |
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val)
|
rs142981643 |
NM_030665.4(RAI1):c.516C>A (p.His172Gln)
|
rs147481626 |
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)
|
rs3818717 |
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn)
|
rs147844401 |
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser)
|
rs138332224 |
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)
|
rs150563155 |
NM_030665.4(RAI1):c.776C>T (p.Pro259Leu)
|
rs758661378 |
NM_030665.4(RAI1):c.834_836GCA[10] (p.Gln289_Gln291del)
|
rs371983878 |
NM_030665.4(RAI1):c.834_836GCA[14] (p.Gln291dup)
|
rs371983878 |
NM_030665.4(RAI1):c.834_836GCA[6] (p.Gln285_Gln291del)
|
rs371983878 |
NM_030665.4(RAI1):c.834_836GCA[7] (p.Gln286_Gln291del)
|
rs371983878 |
NM_030665.4(RAI1):c.834_836GCA[9] (p.Gln288_Gln291del)
|
rs371983878 |
NM_031407.7(HUWE1):c.10278C>T (p.Leu3426=)
|
rs146554767 |
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=)
|
rs61730217 |
NM_031407.7(HUWE1):c.11625G>A (p.Ala3875=)
|
rs782743763 |
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=)
|
rs782115290 |
NM_031407.7(HUWE1):c.11910A>G (p.Leu3970=)
|
rs150043212 |
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=)
|
rs426298 |
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=)
|
rs140734968 |
NM_031407.7(HUWE1):c.12903= (p.Thr4301=)
|
rs477171 |
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=)
|
rs6638360 |
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)
|
rs145758265 |
NM_031407.7(HUWE1):c.3966G>A (p.Leu1322=)
|
rs140959967 |
NM_031407.7(HUWE1):c.411C>G (p.Leu137=)
|
rs138967897 |
NM_031407.7(HUWE1):c.4503C>T (p.Pro1501=)
|
rs144449744 |
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=)
|
rs149893977 |
NM_031407.7(HUWE1):c.5716+5G>A
|
rs139135300 |
NM_031407.7(HUWE1):c.6031-4T>A
|
rs139283158 |
NM_031407.7(HUWE1):c.654T>C (p.Ser218=)
|
rs148129382 |
NM_031407.7(HUWE1):c.99A>G (p.Gln33=)
|
rs61743595 |
NM_031466.7(TRAPPC9):c.160A>G (p.Ser54Gly)
|
rs148523016 |
NM_031466.7(TRAPPC9):c.187A>G (p.Arg63Gly)
|
rs144686266 |
NM_031466.7(TRAPPC9):c.222G>C (p.Ala74=)
|
rs767996463 |
NM_031844.2(HNRNPU):c.2166_2167+1delAGG
|
rs575582638 |
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=)
|
rs147232928 |
NM_031844.3(HNRNPU):c.1251A>G (p.Val417=)
|
rs142767399 |
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=)
|
rs111518952 |
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=)
|
rs11537737 |
NM_031844.3(HNRNPU):c.507G>A (p.Gln169=)
|
rs139561508 |
NM_032682.5(FOXP1):c.1890-5T>C
|
rs187666567 |
NM_032682.6(FOXP1):c.123G>A (p.Thr41=)
|
rs201155996 |
NM_032682.6(FOXP1):c.1702C>T (p.Pro568Ser)
|
rs147674680 |
NM_032682.6(FOXP1):c.1709A>G (p.Asn570Ser)
|
rs140161845 |
NM_032682.6(FOXP1):c.1762G>A (p.Ala588Thr)
|
rs202173892 |
NM_032682.6(FOXP1):c.1825G>A (p.Ala609Thr)
|
rs147537388 |
NM_032682.6(FOXP1):c.44C>T (p.Ala15Val)
|
rs532329866 |
NM_032682.6(FOXP1):c.643C>G (p.Pro215Ala)
|
rs146606219 |
NM_033517.1(SHANK3):c.1803G>A (p.Thr601=)
|
rs73892912 |
NM_033517.1(SHANK3):c.2111-5C>T
|
rs181480774 |
NM_033517.1(SHANK3):c.2265+1G>A
|
rs1396379503 |
NM_033517.1(SHANK3):c.271C>T (p.Arg91Ter)
|
rs1569097392 |
NM_033517.1(SHANK3):c.2908G>T (p.Ala970Ser)
|
rs530255181 |
NM_033517.1(SHANK3):c.3893G>A (p.Arg1298Lys)
|
rs201483867 |
NM_033517.1(SHANK3):c.4176C>G (p.Leu1392=)
|
rs906873431 |
NM_033517.1(SHANK3):c.4960C>A (p.Pro1654Thr)
|
rs749130556 |
NM_080632.2(UPF3B):c.1073G>A (p.Arg358His)
|
rs181034787 |
NM_080632.2(UPF3B):c.1121G>A (p.Arg374His)
|
rs143538947 |
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)
|
rs141984760 |
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)
|
rs149506027 |
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033 |
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr)
|
rs147145506 |
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)
|
rs200440893 |
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)
|
rs80358350 |
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg)
|
rs140100861 |
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374 |
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val)
|
rs200991784 |
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354 |
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=)
|
rs138440449 |
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=)
|
rs148542094 |
NM_133433.4(NIPBL):c.6109-3T>C
|
rs145778995 |
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly)
|
rs587784018 |
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)
|
rs115668015 |
NM_133433.4(NIPBL):c.804A>G (p.Ala268=)
|
rs144238532 |
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=)
|
rs139108785 |
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11])
|
rs750165040 |
NM_139058.3(ARX):c.1170C>T (p.Gly390=)
|
rs761632870 |
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly)
|
rs778734352 |
NM_139058.3(ARX):c.1269C>T (p.His423=)
|
rs794727656 |
NM_139058.3(ARX):c.1300_1302GCC[8] (p.Ala440dup)
|
rs398124508 |
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161 |
NM_139058.3(ARX):c.306G>A (p.Ala102=)
|
rs587783196 |
NM_139058.3(ARX):c.306_308GGC[11] (p.Ala115dup)
|
rs387906492 |
NM_139058.3(ARX):c.306_308GGC[9] (p.Ala115del)
|
rs387906492 |
NM_139058.3(ARX):c.441A>G (p.Ala147=)
|
rs797045301 |
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)
|
rs398124510 |
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)
|
rs757588621 |
NM_139058.3(ARX):c.807C>T (p.Ala269=)
|
rs587783205 |
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)
|
rs79182085 |
NM_145239.3(PRRT2):c.564G>A (p.Gln188=)
|
rs545201760 |
NM_145239.3(PRRT2):c.612C>G (p.Pro204=)
|
rs149260055 |
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro)
|
rs745594874 |
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820 |
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
|
rs140383655 |
NM_153252.5(BRWD3):c.33G>A (p.Glu11=)
|
rs139071237 |
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=)
|
rs140852252 |
NM_153380.3(ZNF41):c.374T>G (p.Ile125Arg)
|
rs17147624 |
NM_153380.3(ZNF41):c.660T>G (p.Asn220Lys)
|
rs34301930 |
NM_153620.3(HOXA1):c.192_194CCA[9] (p.His72dup)
|
rs747464910 |
NM_171998.4(RAB39B):c.126G>T (p.Gly42=)
|
rs781889889 |
NM_171998.4(RAB39B):c.543A>G (p.Thr181=)
|
rs369970931 |
NM_173495.3(PTCHD1):c.1311T>C (p.His437=)
|
rs150186077 |
NM_173495.3(PTCHD1):c.1332C>T (p.Val444=)
|
rs138702144 |
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=)
|
rs138676073 |
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile)
|
rs150912089 |
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=)
|
rs144982584 |
NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe)
|
rs762133513 |
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=)
|
rs5926304 |
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=)
|
rs12014412 |
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=)
|
rs147306123 |
NM_176787.5(PIGN):c.2577-13dup
|
rs138671843 |
NM_176787.5(PIGN):c.2620-17dup
|
rs11437076 |
NM_176787.5(PIGN):c.2620-5del
|
rs11437076 |
NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp)
|
rs376877146 |
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala)
|
rs144914894 |
NM_181303.2(NLGN3):c.2034C>T (p.Tyr678=)
|
rs143055854 |
NM_181303.2(NLGN3):c.282G>A (p.Ser94=)
|
rs143817848 |
NM_181303.2(NLGN3):c.594T>C (p.Gly198=)
|
rs144247281 |
NM_181303.2(NLGN3):c.603C>G (p.Pro201=)
|
rs35794236 |
NM_181332.3(NLGN4X):c.1133A>G (p.Lys378Arg)
|
rs144093574 |
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=)
|
rs61741754 |
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe)
|
rs3747333 |
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=)
|
rs3747334 |
NM_181332.3(NLGN4X):c.2223C>T (p.His741=)
|
rs541646409 |
NM_181332.3(NLGN4X):c.2280C>T (p.Tyr760=)
|
rs75350246 |
NM_181332.3(NLGN4X):c.558C>T (p.Asp186=)
|
rs145911431 |
NM_181332.3(NLGN4X):c.897A>G (p.Ile299Met)
|
rs151073358 |
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=)
|
rs7049300 |