NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_000271.5(NPC1):c.2911+28T>C
|
rs6507720
|
0.56005
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
NM_000271.5(NPC1):c.3754+34A>G
|
rs2510344
|
0.48972
|
NM_000271.5(NPC1):c.1757+60G>A
|
rs2435307
|
0.46769
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)
|
rs1805084
|
0.10225
|
NM_000271.5(NPC1):c.-22A>C
|
rs2303880
|
0.08768
|
NM_000271.5(NPC1):c.1947+14G>T
|
rs3745024
|
0.01574
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_000271.5(NPC1):c.2661G>A (p.Pro887=)
|
rs9949660
|
0.00711
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn)
|
rs148607507
|
0.00022
|
NM_000271.5(NPC1):c.1274C>T (p.Ser425Leu)
|
rs140149624
|
0.00014
|
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)
|
rs756815669
|
0.00006
|
NM_000271.5(NPC1):c.1039G>A (p.Val347Ile)
|
rs376741451
|
0.00003
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe)
|
rs143960270
|
0.00002
|
NM_006432.5(NPC2):c.240C>T (p.Gly80=)
|
rs773836291
|
0.00001
|
NM_000271.5(NPC1):c.1114_1115insT (p.Arg372fs)
|
rs2145457097
|
|
NM_000271.5(NPC1):c.1293del (p.Phe431fs)
|
rs2145455429
|
|
NM_000271.5(NPC1):c.1433A>C (p.Asn478Thr)
|
rs2145447716
|
|
NM_000271.5(NPC1):c.1743G>A (p.Gln581=)
|
rs1234473868
|
|
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val)
|
rs1567946736
|
|
NM_000271.5(NPC1):c.3701T>C (p.Leu1234Ser)
|
rs2145335710
|
|
NM_000271.5(NPC1):c.442G>C (p.Val148Leu)
|
rs200323346
|
|
NM_000271.5(NPC1):c.761C>G (p.Pro254Arg)
|
rs752145311
|
|
NM_000271.5(NPC1):c.839del (p.Leu280fs)
|
rs1057518711
|
|
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys)
|
rs80358260
|
|