|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
|
NM_000506.3(F2):c.598G>A (p.Glu200Lys)
|
rs62623459
|
0.00138
|
|
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln)
|
rs137852682
|
0.00047
|
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
|
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala)
|
rs201671718
|
0.00012
|
|
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu)
|
rs200126728
|
0.00009
|
|
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile)
|
rs201764553
|
0.00007
|
|
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser)
|
rs796052790
|
0.00004
|
|
NM_000312.4(PROC):c.226G>A (p.Val76Met)
|
rs121918149
|
0.00003
|
|
NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu)
|
rs1048241141
|
0.00001
|
|
NM_080552.3(SLC32A1):c.1333C>T (p.Leu445Phe)
|
rs1276643179
|
0.00001
|
|
GRCh37/hg19 15q11.2-12(chr15:22722801-26749200)
|
|
|
|
GRCh37/hg19 1q21.1(chr1:145382601-145616000)
|
|
|
|
GRCh37/hg19 22q11.21(chr22:18873001-21469900)
|
|
|
|
GRCh37/hg19 9q33.1(chr9:119311659-119462832)
|
|
|
|
Multiple alleles
|
|
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
|
NM_000132.4(F8):c.5146C>A (p.His1716Asn)
|
rs2073172888
|
|
|
NM_000153.4:c.[1592G>A];[334A>G]
|
|
|
|
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)
|
rs730880264
|
|
|
NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr)
|
rs199801114
|
|
|
NM_001042724.2(NECTIN2):c.127C>T (p.Arg43Ter)
|
rs1365743374
|
|
|
NM_001127222.2(CACNA1A):c.7249G>T (p.Glu2417Ter)
|
rs1008881855
|
|
|
NM_001136271.3(NKX2-6):c.455dup (p.Gln153fs)
|
rs757292066
|
|
|
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)
|
rs1928407580
|
|
|
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu)
|
rs796052815
|
|
|
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser)
|
rs1555985142
|
|
|
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys)
|
rs1555985142
|
|
|
NM_001184880.2(PCDH19):c.1495G>T (p.Asp499Tyr)
|
rs1928383077
|
|
|
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His)
|
rs748611349
|
|
|
NM_001184880.2(PCDH19):c.1810A>G (p.Thr604Ala)
|
rs1928365372
|
|
|
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg)
|
rs1928358562
|
|
|
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro)
|
rs1928356260
|
|
|
NM_001184880.2(PCDH19):c.219C>G (p.Asp73Glu)
|
rs1928472700
|
|
|
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro)
|
rs1928446616
|
|
|
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg)
|
rs1928431321
|
|
|
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)
|
rs1057524751
|
|
|
NM_001184880.2(PCDH19):c.824A>G (p.Tyr275Cys)
|
rs1928426496
|
|
|
NM_001211.6(BUB1B):c.1526C>A (p.Ser509Ter)
|
rs2140900967
|
|
|
NM_001267550.2(TTN):c.50473C>T (p.Gln16825Ter)
|
rs2154199961
|
|
|
NM_001272071.2(AP1S2):c.-1+1G>A
|
rs1934288587
|
|
|
NM_001378183.1(PIEZO2):c.1444del (p.Arg482fs)
|
rs2144239123
|
|
|
NM_001388492.1(HTT):c.7725G>A (p.Gln2575=)
|
rs1720799396
|
|
|
NM_001845.6(COL4A1):c.1258G>A (p.Gly420Arg)
|
rs2139187274
|
|
|
NM_001845.6(COL4A1):c.4114G>C (p.Gly1372Arg)
|
rs2139149224
|
|
|
NM_001846.4(COL4A2):c.3625G>A (p.Gly1209Arg)
|
rs2139538791
|
|
|
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp)
|
rs2139552522
|
|
|
NM_001846.4(COL4A2):c.957+2T>C
|
rs1013146465
|
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
|
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)
|
rs138008832
|
|
|
NM_003611.3(OFD1):c.1412-322G>A
|
rs2047747647
|
|
|
NM_005228.5(EGFR):c.925C>T (p.Arg309Ter)
|
rs1444692842
|
|
|
NM_006009.4(TUBA1A):c.50G>A (p.Gly17Asp)
|
rs2121248568
|
|
|
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)
|
rs587777428
|
|
|
NM_014874.4(MFN2):c.2220G>A (p.Trp740Ter)
|
rs1060501925
|
|
|
NM_014946.4(SPAST):c.1099-4371_1245+1010del
|
|
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
|
NM_017415.3(KLHL3):c.1692G>A (p.Trp564Ter)
|
rs2149876234
|
|
|
NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]
|
|
|
|
NM_020738.4(KIDINS220):c.4497del (p.Arg1499fs)
|
rs2147944830
|
|
|
NM_020754.4(ARHGAP31):c.1700del (p.Pro567fs)
|
rs2107644554
|
|
|
NM_021120.4(DLG3):c.-8dup
|
|
|
|
NM_080552.3(SLC32A1):c.127G>T (p.Gly43Cys)
|
rs2084268435
|
|
|
NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp)
|
rs2084286884
|
|
|
NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg)
|
rs2084286911
|
|
|
NM_080552.3(SLC32A1):c.1393G>A (p.Gly465Ser)
|
rs2084286949
|
|
|
NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro)
|
rs2084286998
|
|
|
NM_080552.3(SLC32A1):c.788T>C (p.Val263Ala)
|
rs2084283325
|
|
|
NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr)
|
rs2084284179
|
|
|
NM_139058.3(ARX):c.1204G>A (p.Gly402Arg)
|
rs2048682884
|
|
|
NM_181303.2(NLGN3):c.1600C>T (p.Pro534Ser)
|
rs1569485503
|
|
|
NM_182914.3(SYNE2):c.16153C>T (p.Gln5385Ter)
|
rs2153715439
|
|
|
Single allele
|
|
|