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.3450C>T (p.Asn1150=)
|
rs34715591
|
0.00373
|
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)
|
rs116436235
|
0.00352
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_000271.5(NPC1):c.540C>T (p.Asp180=)
|
rs143656971
|
0.00300
|
NM_000271.5(NPC1):c.3477+4A>G
|
rs114073738
|
0.00292
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)
|
rs138184115
|
0.00062
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000271.5(NPC1):c.471C>T (p.Tyr157=)
|
rs145101354
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000271.5(NPC1):c.466A>G (p.Met156Val)
|
rs149074243
|
0.00012
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000271.5(NPC1):c.3159C>T (p.Asp1053=)
|
rs201460899
|
0.00011
|
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr)
|
rs199963560
|
0.00011
|
NM_000271.5(NPC1):c.3519A>G (p.Arg1173=)
|
rs775542483
|
0.00005
|
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln)
|
rs150053420
|
0.00004
|
NM_000271.5(NPC1):c.181-4A>C
|
rs374571310
|
0.00004
|
NM_000271.5(NPC1):c.3129C>T (p.Thr1043=)
|
rs750054620
|
0.00004
|
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys)
|
rs145297180
|
0.00004
|
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)
|
rs113371321
|
0.00004
|
NM_000271.5(NPC1):c.1140C>G (p.Leu380=)
|
rs746501807
|
0.00003
|
NM_000271.5(NPC1):c.2268C>T (p.Ala756=)
|
rs536329623
|
0.00003
|
NM_000271.5(NPC1):c.963G>A (p.Ala321=)
|
rs763990769
|
0.00003
|
NM_000271.5(NPC1):c.1936C>T (p.Arg646Cys)
|
rs368129141
|
0.00002
|
NM_000271.5(NPC1):c.2337C>T (p.Phe779=)
|
rs367654655
|
0.00002
|
NM_000271.5(NPC1):c.3794A>T (p.Glu1265Val)
|
rs751251790
|
0.00002
|
NM_000271.5(NPC1):c.1038C>T (p.Cys346=)
|
rs142119577
|
0.00001
|
NM_000271.5(NPC1):c.1214C>T (p.Thr405Met)
|
rs764364312
|
0.00001
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
NM_000271.5(NPC1):c.2055T>C (p.Ile685=)
|
rs199856145
|
0.00001
|
NM_000271.5(NPC1):c.2251T>C (p.Leu751=)
|
rs766114585
|
0.00001
|
NM_000271.5(NPC1):c.2596A>G (p.Met866Val)
|
rs771088243
|
0.00001
|
NM_000271.5(NPC1):c.2776G>A (p.Ala926Thr)
|
rs564631426
|
0.00001
|
NM_000271.5(NPC1):c.3178C>T (p.Leu1060Phe)
|
rs1285316145
|
0.00001
|
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr)
|
rs986146604
|
0.00001
|
NM_000271.5(NPC1):c.441C>T (p.Tyr147=)
|
rs1388736731
|
0.00001
|
NM_000271.5(NPC1):c.510C>G (p.Asp170Glu)
|
rs887908568
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000271.5(NPC1):c.870G>A (p.Val290=)
|
rs149559712
|
0.00001
|
NM_000271.5(NPC1):c.1261C>G (p.Gln421Glu)
|
rs2058949363
|
|
NM_000271.5(NPC1):c.1315A>C (p.Ile439Leu)
|
|
|
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr)
|
rs764171713
|
|
NM_000271.5(NPC1):c.1480G>C (p.Val494Leu)
|
|
|
NM_000271.5(NPC1):c.1558C>T (p.Pro520Ser)
|
|
|
NM_000271.5(NPC1):c.1727A>G (p.Lys576Arg)
|
|
|
NM_000271.5(NPC1):c.1792A>C (p.Asn598His)
|
|
|
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)
|
rs377130051
|
|
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
|
rs745777805
|
|
NM_000271.5(NPC1):c.206G>A (p.Gly69Asp)
|
|
|
NM_000271.5(NPC1):c.2126A>T (p.Tyr709Phe)
|
|
|
NM_000271.5(NPC1):c.2133A>C (p.Arg711Ser)
|
|
|
NM_000271.5(NPC1):c.2182C>T (p.Leu728=)
|
|
|
NM_000271.5(NPC1):c.2203A>G (p.Met735Val)
|
|
|
NM_000271.5(NPC1):c.2227A>G (p.Thr743Ala)
|
|
|
NM_000271.5(NPC1):c.2445C>A (p.Ser815Arg)
|
rs767708998
|
|
NM_000271.5(NPC1):c.25G>A (p.Gly9Ser)
|
|
|
NM_000271.5(NPC1):c.2617G>A (p.Val873Met)
|
|
|
NM_000271.5(NPC1):c.2645A>G (p.Tyr882Cys)
|
|
|
NM_000271.5(NPC1):c.2646C>T (p.Tyr882=)
|
rs2145373926
|
|
NM_000271.5(NPC1):c.271C>G (p.Leu91Val)
|
rs773809600
|
|
NM_000271.5(NPC1):c.2734A>C (p.Met912Leu)
|
|
|
NM_000271.5(NPC1):c.2844C>T (p.Asp948=)
|
|
|
NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter)
|
rs2145370569
|
|
NM_000271.5(NPC1):c.2920C>T (p.Pro974Ser)
|
|
|
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)
|
rs201118975
|
|
NM_000271.5(NPC1):c.2998C>T (p.Pro1000Ser)
|
|
|
NM_000271.5(NPC1):c.3173C>A (p.Ala1058Asp)
|
|
|
NM_000271.5(NPC1):c.3199G>A (p.Glu1067Lys)
|
|
|
NM_000271.5(NPC1):c.3323C>T (p.Ala1108Val)
|
|
|
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.370A>T (p.Thr124Ser)
|
|
|
NM_000271.5(NPC1):c.3724A>G (p.Ile1242Val)
|
|
|
NM_000271.5(NPC1):c.3732C>G (p.Leu1244=)
|
rs1621962
|
|
NM_000271.5(NPC1):c.3754+1del
|
rs1835896772
|
|
NM_000271.5(NPC1):c.3754+3A>C
|
rs1208252513
|
|
NM_000271.5(NPC1):c.382G>C (p.Asp128His)
|
|
|
NM_000271.5(NPC1):c.407A>G (p.Gln136Arg)
|
|
|
NM_000271.5(NPC1):c.442G>A (p.Val148Ile)
|
rs200323346
|
|
NM_000271.5(NPC1):c.454T>A (p.Phe152Ile)
|
|
|
NM_000271.5(NPC1):c.494C>A (p.Ala165Asp)
|
rs1555638953
|
|
NM_000271.5(NPC1):c.748A>C (p.Lys250Gln)
|
|
|
NM_000271.5(NPC1):c.762A>C (p.Pro254=)
|
|
|
NM_000271.5(NPC1):c.765T>A (p.Pro255=)
|
|
|
NM_000271.5(NPC1):c.811A>G (p.Ile271Val)
|
|
|