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.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
NM_000271.5(NPC1):c.2830G>A (p.Asp944Asn)
|
rs748837410
|
0.00002
|
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
0.00002
|
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser)
|
rs28942105
|
0.00002
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)
|
rs773941375
|
0.00002
|
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
|
rs139751448
|
0.00001
|
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter)
|
rs775629081
|
0.00001
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)
|
rs370721218
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000271.5(NPC1):c.2972del (p.Gln991fs)
|
rs1567948623
|
0.00001
|
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)
|
rs28942107
|
0.00001
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000271.5(NPC1):c.1065del (p.Phe356fs)
|
rs886043871
|
|
NM_000271.5(NPC1):c.1140_1141del (p.Trp381fs)
|
rs1567965488
|
|
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter)
|
rs794727897
|
|
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu)
|
rs1064793791
|
|
NM_000271.5(NPC1):c.1459dup (p.Tyr487fs)
|
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1628del (p.Pro543fs)
|
rs1555635957
|
|
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)
|
rs377130051
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
NM_000271.5(NPC1):c.1920del (p.His641fs)
|
rs886042270
|
|
NM_000271.5(NPC1):c.2286_2287del (p.Phe763fs)
|
rs1057518613
|
|
NM_000271.5(NPC1):c.2604+1G>A
|
rs1555633454
|
|
NM_000271.5(NPC1):c.2683dup (p.Glu895fs)
|
rs1555633326
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)
|
rs759826138
|
|
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)
|
rs786204586
|
|
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp)
|
rs1555632971
|
|
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter)
|
rs751249367
|
|
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)
|
rs750095738
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000271.5(NPC1):c.3294dup (p.Ile1099fs)
|
rs2145351616
|
|
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter)
|
rs144973225
|
|
NM_000271.5(NPC1):c.3613dup (p.Thr1205fs)
|
rs886041356
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
NM_000271.5(NPC1):c.423_424insGA (p.Lys142fs)
|
rs1555641037
|
|
NM_000271.5(NPC1):c.526del (p.Leu176fs)
|
rs1131691558
|
|
NM_000271.5(NPC1):c.67del (p.Gln23fs)
|
rs886043131
|
|
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del)
|
rs758687942
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|