|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00002
|
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
|
NM_000271.5(NPC1):c.1070C>A (p.Ser357Ter)
|
rs1555637232
|
|
|
NM_000271.5(NPC1):c.1092T>A (p.Cys364Ter)
|
rs2058953311
|
|
|
NM_000271.5(NPC1):c.1182C>A (p.Tyr394Ter)
|
|
|
|
NM_000271.5(NPC1):c.1337T>A (p.Leu446Ter)
|
rs2058929021
|
|
|
NM_000271.5(NPC1):c.1348dup (p.Ile450fs)
|
|
|
|
NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)
|
|
|
|
NM_000271.5(NPC1):c.1642G>T (p.Gly548Ter)
|
|
|
|
NM_000271.5(NPC1):c.1731_1737del (p.Gln578fs)
|
|
|
|
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
|
|
|
|
NM_000271.5(NPC1):c.1996_1997del (p.Ser666fs)
|
|
|
|
NM_000271.5(NPC1):c.2035_2036delinsT (p.Gly679fs)
|
|
|
|
NM_000271.5(NPC1):c.2044_2045insGTCATACACATCTG (p.Leu682fs)
|
|
|
|
NM_000271.5(NPC1):c.2046_2047del (p.Leu682fs)
|
|
|
|
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
|
|
|
|
NM_000271.5(NPC1):c.2092G>T (p.Gly698Ter)
|
rs2058754064
|
|
|
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
|
|
|
|
NM_000271.5(NPC1):c.2174del (p.Gly725fs)
|
|
|
|
NM_000271.5(NPC1):c.2383_2384del (p.Leu795fs)
|
|
|
|
NM_000271.5(NPC1):c.2434del (p.Ala812fs)
|
|
|
|
NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter)
|
rs2058698654
|
|
|
NM_000271.5(NPC1):c.2579T>A (p.Leu860Ter)
|
rs2058698544
|
|
|
NM_000271.5(NPC1):c.2670C>A (p.Tyr890Ter)
|
rs780592540
|
|
|
NM_000271.5(NPC1):c.2742C>A (p.Cys914Ter)
|
rs2058687419
|
|
|
NM_000271.5(NPC1):c.2871T>A (p.Cys957Ter)
|
|
|
|
NM_000271.5(NPC1):c.2901C>A (p.Cys967Ter)
|
rs2058679233
|
|
|
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs)
|
rs2145366898
|
|
|
NM_000271.5(NPC1):c.29_30insGTCTCTTATACACACTG (p.Leu11fs)
|
|
|
|
NM_000271.5(NPC1):c.3017del (p.Asn1006fs)
|
|
|
|
NM_000271.5(NPC1):c.3026_3027del (p.Pro1009fs)
|
|
|
|
NM_000271.5(NPC1):c.3136C>T (p.Gln1046Ter)
|
rs1446718670
|
|
|
NM_000271.5(NPC1):c.3141_3147delinsAG (p.Ser1048fs)
|
|
|
|
NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)
|
|
|
|
NM_000271.5(NPC1):c.3182_3183del (p.Ile1061fs)
|
|
|
|
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)
|
rs774602107
|
|
|
NM_000271.5(NPC1):c.3273C>G (p.Tyr1091Ter)
|
rs1598937493
|
|
|
NM_000271.5(NPC1):c.3276_3277del (p.Thr1093fs)
|
|
|
|
NM_000271.5(NPC1):c.327T>A (p.Cys109Ter)
|
rs2059164764
|
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
|
NM_000271.5(NPC1):c.3359_3360insAC (p.Leu1121fs)
|
|
|
|
NM_000271.5(NPC1):c.339T>A (p.Cys113Ter)
|
rs2059164609
|
|
|
NM_000271.5(NPC1):c.3553G>T (p.Glu1185Ter)
|
|
|
|
NM_000271.5(NPC1):c.378del (p.Glu127fs)
|
|
|
|
NM_000271.5(NPC1):c.473dup (p.Asn158fs)
|
|
|
|
NM_000271.5(NPC1):c.586A>T (p.Lys196Ter)
|
rs754653682
|
|
|
NM_000271.5(NPC1):c.608_609del (p.Phe203fs)
|
|
|
|
NM_000271.5(NPC1):c.681T>A (p.Cys227Ter)
|
rs2059021939
|
|
|
NM_000271.5(NPC1):c.718_719del (p.Cys240fs)
|
|
|
|
NM_000271.5(NPC1):c.747del (p.Lys250fs)
|
|
|
|
NM_000271.5(NPC1):c.75T>A (p.Cys25Ter)
|
|
|
|
NM_000271.5(NPC1):c.872G>A (p.Trp291Ter)
|
rs2059018297
|
|
|
NM_000271.5(NPC1):c.88G>T (p.Glu30Ter)
|
rs2059233326
|
|
|
NM_000271.5(NPC1):c.901G>T (p.Glu301Ter)
|
rs150154006
|
|
|
NM_000271.5(NPC1):c.906C>A (p.Tyr302Ter)
|
|
|
|
NM_000271.5(NPC1):c.943del (p.Ala315fs)
|
|
|