|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
|
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)
|
rs768407867
|
0.00004
|
|
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)
|
rs765379963
|
0.00002
|
|
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)
|
rs398124401
|
0.00001
|
|
GRCh37/hg19 15q11.2(chr15:22765628-23085096)
|
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
|
|
|
|
GRCh37/hg19 16p11.2(chr16:29673954-30198600)
|
|
|
|
GRCh37/hg19 16p13.3(chr16:3784414-3821324)
|
|
|
|
GRCh37/hg19 22q13.33(chr22:51123491-51219009)
|
|
|
|
GRCh37/hg19 2q12.3-13(chr2:109157562-110497991)x1
|
|
|
|
GRCh37/hg19 4p16.3(chr4:374557-745174)
|
|
|
|
GRCh37/hg19 6q13(chr6:71105038-75200617)x1
|
|
|
|
GRCh37/hg19 6q21(chr6:107331934-108121759)
|
|
|
|
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)
|
|
|
|
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)
|
|
|
|
GRCh37/hg19 9p24.3(chr9:204193-340142)
|
|
|
|
GRCh37/hg19 Xp22.31(chrX:6488721-8097511)
|
|
|
|
NC_000002.12:g.(?_148157591)_(148226058_?)del
|
|
|
|
NC_000002.12:g.(?_50496341)_(51317388_?)del
|
|
|
|
NC_000002.12:g.(?_51001206)_(51200739_?)del
|
|
|
|
NC_000015.10:g.(?_22444190)_(23226874_?)del
|
|
|
|
NC_000015.10:g.(?_22570470)_(23226874_?)del
|
|
|
|
NC_000015.10:g.(?_22673143)_(23226874_?)del
|
|
|
|
NC_000015.10:g.(?_22751662)_(23126124_?)del
|
|
|
|
NC_000015.10:g.(?_22770232)_(23126124_?)del
|
|
|
|
NC_000015.10:g.(?_30568981)_(32151126_?)del
|
|
|
|
NC_000015.10:g.(?_30568981)_(32318632_?)del
|
|
|
|
NC_000016.10:g.(?_14757009)_(16763184_?)del
|
|
|
|
NC_000016.10:g.(?_29480853)_(30254620_?)del
|
|
|
|
NC_000017.11:g.(?_16770855)_(20585863_?)del
|
|
|
|
NC_000017.11:g.(?_36143765)_(37995300_?)del
|
|
|
|
NC_000017.11:g.(?_36446252)_(37887875_?)del
|
|
|
|
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)
|
rs876660634
|
|
|
NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter)
|
rs1571164333
|
|
|
NM_001032221.6(STXBP1):c.1359+1G>T
|
rs796053370
|
|
|
NM_001040142.2(SCN2A):c.2229_2230del (p.Lys743fs)
|
rs1057518658
|
|
|
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)
|
rs1567871600
|
|
|
NM_001135659.3:c.(?_-921)_(931+1_932-1)del
|
|
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
|
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter)
|
rs1555318552
|
|
|
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs)
|
rs1950523317
|
|
|
NM_001323289.2(CDKL5):c.183del (p.Met63fs)
|
rs62643608
|
|
|
NM_001349338.3(FOXP1):c.1348+1G>C
|
rs1559619762
|
|
|
NM_001367943.1(TCF7L2):c.1144C>T (p.Gln382Ter)
|
|
|
|
NM_001378418.1(TCF20):c.1810_1811del (p.Val604fs)
|
rs1569151204
|
|
|
NM_001378418.1(TCF20):c.2594C>G (p.Ser865Ter)
|
rs1569149539
|
|
|
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)
|
rs1577059692
|
|
|
NM_004603.4(STX1A):c.284-1G>A
|
rs2116737208
|
|
|
NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile)
|
rs1057519440
|
|
|
NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter)
|
rs1555740650
|
|
|
NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs)
|
rs1555741826
|
|
|
NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)
|
rs1555740394
|
|
|
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)
|
rs587784105
|
|
|
NM_057175.5(NAA15):c.995T>G (p.Leu332Ter)
|
rs2110935239
|
|
|
NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs)
|
rs1568070621
|
|
|
Single allele
|
|
|