NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu)
|
rs1224993536
|
0.00002
|
NM_001271.4(CHD2):c.2507G>A (p.Arg836His)
|
rs1429832116
|
0.00001
|
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly)
|
rs927604763
|
0.00001
|
NM_000814.6(GABRB3):c.151C>G (p.Arg51Gly)
|
rs2140199581
|
|
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)
|
|
|
NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln)
|
rs1890228169
|
|
NM_000814.6(GABRB3):c.8del (p.Gly3fs)
|
rs1891196700
|
|
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys)
|
rs1889966424
|
|
NM_001271.4(CHD2):c.1681_1692del (p.Val561_Tyr564del)
|
rs2141811654
|
|
NM_001271.4(CHD2):c.1913C>G (p.Ser638Cys)
|
rs2053619310
|
|
NM_001271.4(CHD2):c.229C>G (p.Pro77Ala)
|
rs1228076921
|
|
NM_001271.4(CHD2):c.2650A>G (p.Ile884Val)
|
rs2053935304
|
|
NM_001271.4(CHD2):c.2705A>G (p.His902Arg)
|
rs2053935622
|
|
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro)
|
rs2053946404
|
|
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala)
|
rs2053978897
|
|
NM_001271.4(CHD2):c.3542G>A (p.Cys1181Tyr)
|
rs2141861661
|
|
NM_001271.4(CHD2):c.3700_3707del (p.Lys1234fs)
|
rs2054197493
|
|
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
|
rs1555444603
|
|
NM_001271.4(CHD2):c.3805C>G (p.Leu1269Val)
|
rs1308763946
|
|
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter)
|
rs2054212444
|
|
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs)
|
rs749969667
|
|
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser)
|
rs2141881607
|
|
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)
|
rs797044912
|
|
NM_001271.4(CHD2):c.5234C>G (p.Ser1745Cys)
|
rs2141761439
|
|
NM_001271.4(CHD2):c.693-1G>A
|
rs2053387699
|
|
NM_004408.4(DNM1):c.1138G>T (p.Asp380Tyr)
|
rs1835101754
|
|
NM_004408.4(DNM1):c.119A>C (p.Gln40Pro)
|
rs2131061484
|
|
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
|
|
|
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr)
|
rs1834792032
|
|
NM_004408.4(DNM1):c.958G>C (p.Asp320His)
|
rs1588368840
|
|