NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr)
|
rs762517273
|
0.00009
|
NM_000271.5(NPC1):c.1166G>A (p.Arg389His)
|
rs373751051
|
0.00004
|
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys)
|
rs145297180
|
0.00004
|
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser)
|
rs201156397
|
0.00003
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00002
|
NM_000271.5(NPC1):c.1028G>C (p.Gly343Ala)
|
rs1444308532
|
0.00001
|
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)
|
rs786204714
|
0.00001
|
NM_000271.5(NPC1):c.2933G>A (p.Arg978His)
|
rs752728865
|
0.00001
|
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)
|
rs534280005
|
0.00001
|
NM_000271.5(NPC1):c.3521C>T (p.Ala1174Val)
|
rs780175800
|
0.00001
|
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly)
|
rs1415921261
|
0.00001
|
NM_000271.5(NPC1):c.956-1G>A
|
rs756853895
|
0.00001
|
NM_000271.5(NPC1):c.956-2A>G
|
rs1473909084
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly)
|
rs1192824648
|
|
NM_000271.5(NPC1):c.1166G>T (p.Arg389Leu)
|
rs373751051
|
|
NM_000271.5(NPC1):c.1327-2dup
|
rs1555636712
|
|
NM_000271.5(NPC1):c.1420C>G (p.Pro474Ala)
|
|
|
NM_000271.5(NPC1):c.1436G>C (p.Cys479Ser)
|
|
|
NM_000271.5(NPC1):c.1534C>T (p.His512Tyr)
|
|
|
NM_000271.5(NPC1):c.1550T>A (p.Val517Glu)
|
rs2145446753
|
|
NM_000271.5(NPC1):c.1612G>C (p.Gly538Arg)
|
rs2145433298
|
|
NM_000271.5(NPC1):c.1627C>T (p.Pro543Ser)
|
rs2145433190
|
|
NM_000271.5(NPC1):c.1757+1G>A
|
|
|
NM_000271.5(NPC1):c.1758-3_1761del
|
|
|
NM_000271.5(NPC1):c.180+1G>C
|
rs2059231880
|
|
NM_000271.5(NPC1):c.180+1G>T
|
|
|
NM_000271.5(NPC1):c.1843C>A (p.Arg615Ser)
|
rs745777805
|
|
NM_000271.5(NPC1):c.1844G>A (p.Arg615His)
|
rs773351341
|
|
NM_000271.5(NPC1):c.187T>C (p.Cys63Arg)
|
|
|
NM_000271.5(NPC1):c.188G>A (p.Cys63Tyr)
|
rs2145544950
|
|
NM_000271.5(NPC1):c.1990G>C (p.Val664Leu)
|
rs376213990
|
|
NM_000271.5(NPC1):c.2053A>C (p.Ile685Leu)
|
|
|
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2108T>C (p.Phe703Ser)
|
rs2058753693
|
|
NM_000271.5(NPC1):c.2134G>A (p.Asp712Asn)
|
|
|
NM_000271.5(NPC1):c.2134G>T (p.Asp712Tyr)
|
|
|
NM_000271.5(NPC1):c.2200A>G (p.Ser734Gly)
|
rs2145394815
|
|
NM_000271.5(NPC1):c.2200A>T (p.Ser734Cys)
|
|
|
NM_000271.5(NPC1):c.2201G>C (p.Ser734Thr)
|
|
|
NM_000271.5(NPC1):c.2290G>T (p.Ala764Ser)
|
|
|
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly)
|
rs1555633697
|
|
NM_000271.5(NPC1):c.2366G>A (p.Arg789His)
|
rs483352891
|
|
NM_000271.5(NPC1):c.2489T>C (p.Leu830Pro)
|
|
|
NM_000271.5(NPC1):c.2514+1G>A
|
|
|
NM_000271.5(NPC1):c.2522T>A (p.Ile841Lys)
|
|
|
NM_000271.5(NPC1):c.2525T>C (p.Phe842Ser)
|
|
|
NM_000271.5(NPC1):c.2567T>C (p.Val856Ala)
|
|
|
NM_000271.5(NPC1):c.2593T>A (p.Ser865Thr)
|
|
|
NM_000271.5(NPC1):c.2593T>C (p.Ser865Pro)
|
|
|
NM_000271.5(NPC1):c.2604+1G>A
|
rs1555633454
|
|
NM_000271.5(NPC1):c.2796-2A>T
|
|
|
NM_000271.5(NPC1):c.2818T>C (p.Ser940Pro)
|
|
|
NM_000271.5(NPC1):c.2844C>G (p.Asp948Glu)
|
|
|
NM_000271.5(NPC1):c.2911+2del
|
rs2058678962
|
|
NM_000271.5(NPC1):c.2912-2A>C
|
rs1555632994
|
|
NM_000271.5(NPC1):c.2926T>C (p.Cys976Arg)
|
|
|
NM_000271.5(NPC1):c.2932C>A (p.Arg978Ser)
|
rs28942108
|
|
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp)
|
rs1555632971
|
|
NM_000271.5(NPC1):c.3035G>A (p.Gly1012Asp)
|
|
|
NM_000271.5(NPC1):c.3041+2del
|
rs2058665849
|
|
NM_000271.5(NPC1):c.3042-1G>A
|
rs771806960
|
|
NM_000271.5(NPC1):c.3042-2_3042-1del
|
|
|
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg)
|
rs2058637844
|
|
NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)
|
|
|
NM_000271.5(NPC1):c.3106A>T (p.Thr1036Ser)
|
|
|
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro)
|
rs893564568
|
|
NM_000271.5(NPC1):c.3185C>T (p.Ala1062Val)
|
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000271.5(NPC1):c.3266A>G (p.Glu1089Gly)
|
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
NM_000271.5(NPC1):c.3433T>C (p.Trp1145Arg)
|
rs2145350224
|
|
NM_000271.5(NPC1):c.3435G>C (p.Trp1145Cys)
|
|
|
NM_000271.5(NPC1):c.3451G>T (p.Ala1151Ser)
|
|
|
NM_000271.5(NPC1):c.3467A>C (p.Asn1156Thr)
|
|
|
NM_000271.5(NPC1):c.3478-1G>C
|
|
|
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu)
|
rs748862167
|
|
NM_000271.5(NPC1):c.3502T>G (p.Cys1168Gly)
|
|
|
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr)
|
rs1555631998
|
|
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg)
|
rs1567977251
|
|
NM_000271.5(NPC1):c.3557G>T (p.Arg1186Leu)
|
|
|
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly)
|
rs113371321
|
|
NM_000271.5(NPC1):c.3571C>G (p.Leu1191Val)
|
|
|
NM_000271.5(NPC1):c.3572T>C (p.Leu1191Pro)
|
|
|
NM_000271.5(NPC1):c.3591+121C>T
|
|
|
NM_000271.5(NPC1):c.3634G>A (p.Val1212Met)
|
|
|
NM_000271.5(NPC1):c.3647C>T (p.Ala1216Val)
|
|
|
NM_000271.5(NPC1):c.3731T>C (p.Leu1244Pro)
|
|
|
NM_000271.5(NPC1):c.3754+3A>C
|
rs1208252513
|
|
NM_000271.5(NPC1):c.463+1G>A
|
|
|
NM_000271.5(NPC1):c.463+2T>G
|
rs2145526252
|
|
NM_000271.5(NPC1):c.500C>T (p.Ser167Leu)
|
|
|
NM_000271.5(NPC1):c.631+1G>T
|
|
|
NM_000271.5(NPC1):c.881+1G>A
|
|
|
NM_000271.5(NPC1):c.956-1G>T
|
|
|
NM_006432.5(NPC2):c.190+1G>C
|
|
|
NM_006432.5(NPC2):c.191-1G>A
|
|
|
NM_006432.5(NPC2):c.191-1_193del
|
rs1555345873
|
|
NM_006432.5(NPC2):c.364-2A>G
|
rs777654308
|
|