|
NM_001360.3(DHCR7):c.438T>C (p.Asn146=)
|
rs949177
|
0.90629
|
|
NM_001360.3(DHCR7):c.207T>C (p.Thr69=)
|
rs1790334
|
0.90380
|
|
NM_130837.3(OPA1):c.1035+4T>C
|
rs166850
|
0.88294
|
|
NM_001360.3(DHCR7):c.189G>A (p.Gln63=)
|
rs1044482
|
0.59041
|
|
NM_030665.4(RAI1):c.1992G>A (p.Pro664=)
|
rs8067439
|
0.58185
|
|
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)
|
rs9648691
|
0.57506
|
|
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=)
|
rs909217
|
0.56172
|
|
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)
|
rs9851685
|
0.50117
|
|
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)
|
rs3803763
|
0.43727
|
|
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)
|
rs3818717
|
0.42485
|
|
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr)
|
rs11649804
|
0.35747
|
|
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)
|
rs10240503
|
0.22240
|
|
NM_014141.6(CNTNAP2):c.1777+10A>G
|
rs2286127
|
0.20355
|
|
NM_014141.6(CNTNAP2):c.3248-4A>G
|
rs3779031
|
0.18203
|
|
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=)
|
rs34592169
|
0.17471
|
|
NM_024426.6(WT1):c.1122A>G (p.Arg374=)
|
rs16754
|
0.16617
|
|
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
|
NM_024426.6(WT1):c.345C>T (p.Pro115=)
|
rs1799925
|
0.15374
|
|
NM_024426.6(WT1):c.609C>T (p.Asn203=)
|
rs2234583
|
0.13287
|
|
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala)
|
rs2292954
|
0.12849
|
|
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln)
|
rs12960
|
0.12801
|
|
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
|
rs6468694
|
0.11916
|
|
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=)
|
rs4925112
|
0.11504
|
|
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=)
|
rs35686634
|
0.09361
|
|
NM_001360.3(DHCR7):c.231C>T (p.Thr77=)
|
rs4316537
|
0.08662
|
|
NM_014141.6(CNTNAP2):c.3716-6C>G
|
rs77025884
|
0.00004
|
|
NM_003119.4(SPG7):c.987+5A>G
|
rs4785691
|
|
|
NM_014141.6(CNTNAP2):c.3716-17TCTT[3]
|
rs142426153
|
|