NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)
|
rs1346436537
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)
|
rs753419933
|
0.00002
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
0.00001
|
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)
|
rs534280005
|
0.00001
|
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)
|
rs746715353
|
0.00001
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NC_000018.9:g.(21131692_21134721)_(21141492_21148786)dup
|
|
|
NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter)
|
rs750292546
|
|
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
|
rs745777805
|
|
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)
|
rs780592540
|
|
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
|
|
|
NM_000271.5(NPC1):c.3243_3755-94del
|
|
|
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs)
|
rs2145351244
|
|
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)
|
rs120074136
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
NM_000271.5(NPC1):c.3485G>C (p.Gly1162Ala)
|
rs1194990534
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg)
|
rs758902805
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
|
|
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
|
|
|
NM_000271.5(NPC1):c.464-2A>C
|
rs2145485704
|
|
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)
|
rs1243863645
|
|
NM_000271.5(NPC1):c.955+1G>A
|
|
|
NM_000271.5(NPC1):c.99_100del (p.Ala34fs)
|
rs2059233076
|
|
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)
|
rs1376058648
|
|
NM_006432.5(NPC2):c.3G>C (p.Met1Ile)
|
rs483352893
|
|