NM_017838.4(NHP2):c.190G>A (p.Val64Met)
|
rs79031130
|
0.00038
|
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe)
|
rs542477730
|
0.00035
|
NM_025099.6(CTC1):c.194A>G (p.Tyr65Cys)
|
rs201731405
|
0.00031
|
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro)
|
rs62637612
|
0.00024
|
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val)
|
rs571554235
|
0.00022
|
NM_001099274.3(TINF2):c.507+6G>A
|
rs142144996
|
0.00020
|
NM_025099.6(CTC1):c.3340C>T (p.Pro1114Ser)
|
rs370564569
|
0.00019
|
NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser)
|
rs376302717
|
0.00015
|
NM_001099274.3(TINF2):c.1073_1081dup (p.Tyr360_Met361insAsnCysTyr)
|
rs776727691
|
0.00014
|
NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr)
|
rs35653076
|
0.00014
|
NM_025099.6(CTC1):c.3151C>T (p.Arg1051Trp)
|
rs370674203
|
0.00014
|
NM_001099274.3(TINF2):c.371C>T (p.Ala124Val)
|
rs369712095
|
0.00013
|
NM_025099.6(CTC1):c.3083C>T (p.Ser1028Phe)
|
rs779906449
|
0.00013
|
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe)
|
rs199740488
|
0.00012
|
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp)
|
rs771646414
|
0.00011
|
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser)
|
rs200454893
|
0.00010
|
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr)
|
rs367822614
|
0.00010
|
NM_001099274.3(TINF2):c.1081A>G (p.Met361Val)
|
rs201787600
|
0.00009
|
NM_017838.4(NHP2):c.394C>T (p.His132Tyr)
|
rs146766601
|
0.00009
|
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys)
|
rs201879837
|
0.00009
|
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys)
|
rs201885165
|
0.00009
|
NM_025099.6(CTC1):c.50A>G (p.Glu17Gly)
|
rs200054513
|
0.00009
|
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val)
|
rs369249473
|
0.00008
|
NM_001099274.3(TINF2):c.590G>A (p.Gly197Glu)
|
rs540798467
|
0.00008
|
NM_025099.6(CTC1):c.1379G>A (p.Arg460His)
|
rs200619397
|
0.00008
|
NM_025099.6(CTC1):c.2896C>T (p.Arg966Trp)
|
rs200208356
|
0.00008
|
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln)
|
rs778830884
|
0.00008
|
NM_025099.6(CTC1):c.484C>T (p.Arg162Cys)
|
rs367666200
|
0.00008
|
NM_025099.6(CTC1):c.616C>G (p.Pro206Ala)
|
rs778922727
|
0.00008
|
NM_025099.6(CTC1):c.878G>C (p.Gly293Ala)
|
rs377324497
|
0.00008
|
NM_025099.6(CTC1):c.1052G>A (p.Arg351Gln)
|
rs371166242
|
0.00007
|
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr)
|
rs139078502
|
0.00007
|
NM_025099.6(CTC1):c.2611G>A (p.Val871Met)
|
rs369255297
|
0.00007
|
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)
|
rs199473678
|
0.00007
|
NM_025099.6(CTC1):c.3191C>T (p.Thr1064Met)
|
rs1001797761
|
0.00007
|
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg)
|
rs367835995
|
0.00006
|
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter)
|
rs201677741
|
0.00006
|
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr)
|
rs372511229
|
0.00006
|
NM_017838.4(NHP2):c.289A>G (p.Met97Val)
|
rs372840247
|
0.00006
|
NM_017838.4(NHP2):c.290T>C (p.Met97Thr)
|
rs147530082
|
0.00006
|
NM_017838.4(NHP2):c.328T>A (p.Ser110Thr)
|
rs780696831
|
0.00006
|
NM_025099.6(CTC1):c.1264G>A (p.Ala422Thr)
|
rs369078832
|
0.00006
|
NM_025099.6(CTC1):c.1274T>C (p.Leu425Pro)
|
rs371812914
|
0.00006
|
NM_025099.6(CTC1):c.1378C>T (p.Arg460Cys)
|
rs561676622
|
0.00006
|
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys)
|
rs759152295
|
0.00006
|
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp)
|
rs200222583
|
0.00006
|
NM_025099.6(CTC1):c.257C>T (p.Ser86Leu)
|
rs778742090
|
0.00006
|
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly)
|
rs202226502
|
0.00006
|
NM_025099.6(CTC1):c.3337G>A (p.Val1113Met)
|
rs543241073
|
0.00006
|
NM_025099.6(CTC1):c.596C>T (p.Thr199Met)
|
rs747323535
|
0.00006
|
NM_025099.6(CTC1):c.884G>A (p.Arg295His)
|
rs763386935
|
0.00006
|
NM_001099274.3(TINF2):c.1253T>C (p.Phe418Ser)
|
rs773286175
|
0.00005
|
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn)
|
rs765992492
|
0.00005
|
NM_001099274.3(TINF2):c.61C>G (p.Gln21Glu)
|
rs767648367
|
0.00005
|
NM_001363.5(DKC1):c.259A>G (p.Ile87Val)
|
rs782202263
|
0.00005
|
NM_025099.6(CTC1):c.1051C>T (p.Arg351Trp)
|
rs374781255
|
0.00005
|
NM_025099.6(CTC1):c.1076C>T (p.Ser359Leu)
|
rs561782597
|
0.00005
|
NM_025099.6(CTC1):c.1565G>A (p.Arg522Gln)
|
rs375999182
|
0.00005
|
NM_025099.6(CTC1):c.17C>T (p.Ala6Val)
|
rs371541763
|
0.00005
|
NM_025099.6(CTC1):c.1904T>G (p.Leu635Arg)
|
rs763326051
|
0.00005
|
NM_025099.6(CTC1):c.198-3C>T
|
rs761189766
|
0.00005
|
NM_025099.6(CTC1):c.1981G>A (p.Val661Ile)
|
rs534923467
|
0.00005
|
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr)
|
rs369721966
|
0.00005
|
NM_025099.6(CTC1):c.3281C>T (p.Ala1094Val)
|
rs536983035
|
0.00005
|
NM_025099.6(CTC1):c.3286G>A (p.Ala1096Thr)
|
rs748072446
|
0.00005
|
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln)
|
rs201788219
|
0.00005
|
NM_025099.6(CTC1):c.562G>A (p.Val188Met)
|
rs769331687
|
0.00005
|
NM_025099.6(CTC1):c.827G>A (p.Arg276Gln)
|
rs761903168
|
0.00005
|
NM_025099.6(CTC1):c.873C>G (p.Ile291Met)
|
rs199900567
|
0.00005
|
NM_025099.6(CTC1):c.887A>G (p.Gln296Arg)
|
rs746829533
|
0.00005
|
NM_001099274.3(TINF2):c.500C>T (p.Ala167Val)
|
rs562843857
|
0.00004
|
NM_001099274.3(TINF2):c.507+5C>T
|
rs761308889
|
0.00004
|
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln)
|
rs779837822
|
0.00004
|
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val)
|
rs782631659
|
0.00004
|
NM_001363.5(DKC1):c.84C>T (p.Ala28=)
|
rs142474971
|
0.00004
|
NM_017838.4(NHP2):c.335C>T (p.Thr112Met)
|
rs768262654
|
0.00004
|
NM_017838.4(NHP2):c.441G>T (p.Gln147His)
|
rs757655789
|
0.00004
|
NM_025099.6(CTC1):c.1028A>G (p.Lys343Arg)
|
rs746477108
|
0.00004
|
NM_025099.6(CTC1):c.1043G>A (p.Ser348Asn)
|
rs372396041
|
0.00004
|
NM_025099.6(CTC1):c.139A>G (p.Lys47Glu)
|
rs544760936
|
0.00004
|
NM_025099.6(CTC1):c.1682G>A (p.Arg561His)
|
rs373690929
|
0.00004
|
NM_025099.6(CTC1):c.1727C>T (p.Pro576Leu)
|
rs755218326
|
0.00004
|
NM_025099.6(CTC1):c.1936C>T (p.Arg646Trp)
|
rs780151711
|
0.00004
|
NM_025099.6(CTC1):c.1990G>A (p.Asp664Asn)
|
rs747911941
|
0.00004
|
NM_025099.6(CTC1):c.202G>A (p.Val68Ile)
|
rs1060499949
|
0.00004
|
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala)
|
rs370354906
|
0.00004
|
NM_025099.6(CTC1):c.2653G>A (p.Asp885Asn)
|
rs370102181
|
0.00004
|
NM_025099.6(CTC1):c.3176G>T (p.Gly1059Val)
|
rs957741030
|
0.00004
|
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile)
|
rs377491661
|
0.00004
|
NM_025099.6(CTC1):c.547G>T (p.Asp183Tyr)
|
rs751596403
|
0.00004
|
NM_001099274.3(TINF2):c.1221+1G>C
|
rs374008344
|
0.00003
|
NM_001099274.3(TINF2):c.1221+3G>C
|
rs762455414
|
0.00003
|
NM_001099274.3(TINF2):c.278T>C (p.Ile93Thr)
|
rs762140055
|
0.00003
|
NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser)
|
rs746625511
|
0.00003
|
NM_001099274.3(TINF2):c.640C>T (p.Pro214Ser)
|
rs372610524
|
0.00003
|
NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn)
|
rs782598355
|
0.00003
|
NM_017838.4(NHP2):c.109C>T (p.Pro37Ser)
|
rs201390429
|
0.00003
|
NM_017838.4(NHP2):c.388_395dup (p.His132fs)
|
rs755460344
|
0.00003
|
NM_025099.6(CTC1):c.1045C>T (p.Leu349Phe)
|
rs745499039
|
0.00003
|
NM_025099.6(CTC1):c.1108G>A (p.Ala370Thr)
|
rs771759195
|
0.00003
|
NM_025099.6(CTC1):c.1177C>T (p.Arg393Trp)
|
rs767962215
|
0.00003
|
NM_025099.6(CTC1):c.1178G>A (p.Arg393Gln)
|
rs755414520
|
0.00003
|
NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp)
|
rs375293707
|
0.00003
|
NM_025099.6(CTC1):c.1265C>T (p.Ala422Val)
|
rs532962550
|
0.00003
|
NM_025099.6(CTC1):c.1276C>T (p.Arg426Cys)
|
rs367898339
|
0.00003
|
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile)
|
rs201560353
|
0.00003
|
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln)
|
rs776684484
|
0.00003
|
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys)
|
rs764799661
|
0.00003
|
NM_025099.6(CTC1):c.2036G>A (p.Gly679Asp)
|
rs201006130
|
0.00003
|
NM_025099.6(CTC1):c.2191C>T (p.Arg731Trp)
|
rs781720954
|
0.00003
|
NM_025099.6(CTC1):c.2266G>A (p.Val756Met)
|
rs200779057
|
0.00003
|
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln)
|
rs772328631
|
0.00003
|
NM_025099.6(CTC1):c.2497G>C (p.Asp833His)
|
rs754510180
|
0.00003
|
NM_025099.6(CTC1):c.2575A>T (p.Thr859Ser)
|
rs780809830
|
0.00003
|
NM_025099.6(CTC1):c.268A>G (p.Ser90Gly)
|
rs371308970
|
0.00003
|
NM_025099.6(CTC1):c.2770G>A (p.Ala924Thr)
|
rs376358881
|
0.00003
|
NM_025099.6(CTC1):c.2942A>G (p.Asn981Ser)
|
rs375371933
|
0.00003
|
NM_001099274.3(TINF2):c.1062-3C>T
|
rs1176026210
|
0.00002
|
NM_001099274.3(TINF2):c.1084G>C (p.Asp362His)
|
rs371044766
|
0.00002
|
NM_001099274.3(TINF2):c.1222-3C>A
|
rs760553298
|
0.00002
|
NM_001099274.3(TINF2):c.1312C>G (p.Pro438Ala)
|
rs1359891417
|
0.00002
|
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg)
|
rs1375036989
|
0.00002
|
NM_001363.5(DKC1):c.1451A>C (p.Glu484Ala)
|
rs781923825
|
0.00002
|
NM_001363.5(DKC1):c.64T>G (p.Leu22Val)
|
rs781849751
|
0.00002
|
NM_017838.4(NHP2):c.138G>C (p.Lys46Asn)
|
rs761328868
|
0.00002
|
NM_017838.4(NHP2):c.289_290del (p.Met97fs)
|
rs762821341
|
0.00002
|
NM_017838.4(NHP2):c.70T>A (p.Tyr24Asn)
|
rs757358075
|
0.00002
|
NM_025099.6(CTC1):c.1007T>C (p.Met336Thr)
|
rs376721027
|
0.00002
|
NM_025099.6(CTC1):c.1147C>T (p.Leu383Phe)
|
rs199532891
|
0.00002
|
NM_025099.6(CTC1):c.1166G>A (p.Arg389His)
|
rs758605320
|
0.00002
|
NM_025099.6(CTC1):c.1343A>G (p.Tyr448Cys)
|
rs779866795
|
0.00002
|
NM_025099.6(CTC1):c.1525C>T (p.Pro509Ser)
|
rs369917627
|
0.00002
|
NM_025099.6(CTC1):c.1558C>G (p.Pro520Ala)
|
rs371714831
|
0.00002
|
NM_025099.6(CTC1):c.1624C>T (p.Arg542Trp)
|
rs901245332
|
0.00002
|
NM_025099.6(CTC1):c.196A>G (p.Ser66Gly)
|
rs1366348022
|
0.00002
|
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn)
|
rs754090012
|
0.00002
|
NM_025099.6(CTC1):c.2441G>A (p.Gly814Glu)
|
rs375914513
|
0.00002
|
NM_025099.6(CTC1):c.2557A>G (p.Thr853Ala)
|
rs758218109
|
0.00002
|
NM_025099.6(CTC1):c.2785G>A (p.Val929Met)
|
rs778339506
|
0.00002
|
NM_025099.6(CTC1):c.3007A>G (p.Ile1003Val)
|
rs758498343
|
0.00002
|
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys)
|
rs376349076
|
0.00002
|
NM_025099.6(CTC1):c.3170G>A (p.Arg1057His)
|
rs776956576
|
0.00002
|
NM_025099.6(CTC1):c.3173T>G (p.Leu1058Arg)
|
rs146536910
|
0.00002
|
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser)
|
rs373875495
|
0.00002
|
NM_025099.6(CTC1):c.3222G>C (p.Arg1074Ser)
|
rs1393187047
|
0.00002
|
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu)
|
rs766537691
|
0.00002
|
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter)
|
rs200919310
|
0.00002
|
NM_025099.6(CTC1):c.448G>A (p.Asp150Asn)
|
rs374418436
|
0.00002
|
NM_025099.6(CTC1):c.500C>T (p.Pro167Leu)
|
rs1390966539
|
0.00002
|
NM_025099.6(CTC1):c.647+4A>G
|
rs751360780
|
0.00002
|
NM_025099.6(CTC1):c.738C>G (p.Ile246Met)
|
rs1463129527
|
0.00002
|
NM_025099.6(CTC1):c.874C>T (p.Arg292Cys)
|
rs1013688033
|
0.00002
|
NM_025099.6(CTC1):c.8C>G (p.Ala3Gly)
|
rs923853643
|
0.00002
|
NM_025099.6(CTC1):c.980T>C (p.Leu327Ser)
|
rs902038280
|
0.00002
|
NM_001099274.3(TINF2):c.1076G>A (p.Cys359Tyr)
|
rs368350757
|
0.00001
|
NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu)
|
rs201422008
|
0.00001
|
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile)
|
rs749534744
|
0.00001
|
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln)
|
rs1594548909
|
0.00001
|
NM_001099274.3(TINF2):c.128C>A (p.Ala43Asp)
|
rs771709910
|
0.00001
|
NM_001099274.3(TINF2):c.1291C>A (p.Pro431Thr)
|
rs756840009
|
0.00001
|
NM_001099274.3(TINF2):c.1309A>G (p.Ile437Val)
|
rs777060713
|
0.00001
|
NM_001099274.3(TINF2):c.1313C>T (p.Pro438Leu)
|
rs1184256281
|
0.00001
|
NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val)
|
rs532096263
|
0.00001
|
NM_001099274.3(TINF2):c.144_145insTT (p.Val49fs)
|
rs1334044756
|
0.00001
|
NM_001099274.3(TINF2):c.166C>G (p.Arg56Gly)
|
rs753814680
|
0.00001
|
NM_001099274.3(TINF2):c.167G>A (p.Arg56His)
|
rs777925529
|
0.00001
|
NM_001099274.3(TINF2):c.251A>G (p.Asn84Ser)
|
rs1043122818
|
0.00001
|
NM_001099274.3(TINF2):c.253C>G (p.His85Asp)
|
rs758462532
|
0.00001
|
NM_001099274.3(TINF2):c.364T>A (p.Ser122Thr)
|
rs776604725
|
0.00001
|
NM_001099274.3(TINF2):c.388T>C (p.Ser130Pro)
|
rs959871602
|
0.00001
|
NM_001099274.3(TINF2):c.389C>T (p.Ser130Leu)
|
rs746984199
|
0.00001
|
NM_001099274.3(TINF2):c.400G>A (p.Glu134Lys)
|
rs1429817346
|
0.00001
|
NM_001099274.3(TINF2):c.598C>T (p.Leu200Phe)
|
rs772502368
|
0.00001
|
NM_001099274.3(TINF2):c.621C>G (p.Asp207Glu)
|
rs775914928
|
0.00001
|
NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro)
|
rs377436580
|
0.00001
|
NM_001099274.3(TINF2):c.631C>G (p.Leu211Val)
|
rs746287594
|
0.00001
|
NM_001099274.3(TINF2):c.679C>T (p.Leu227Phe)
|
rs754706260
|
0.00001
|
NM_001099274.3(TINF2):c.716A>C (p.His239Pro)
|
rs2040558735
|
0.00001
|
NM_001099274.3(TINF2):c.731C>T (p.Pro244Leu)
|
rs775202856
|
0.00001
|
NM_001099274.3(TINF2):c.73G>C (p.Gly25Arg)
|
rs766671951
|
0.00001
|
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)
|
rs200320654
|
0.00001
|
NM_001099274.3(TINF2):c.797G>A (p.Arg266Gln)
|
rs200025766
|
0.00001
|
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu)
|
rs369926102
|
0.00001
|
NM_001099274.3(TINF2):c.922G>T (p.Glu308Ter)
|
rs1232383398
|
0.00001
|
NM_001099274.3(TINF2):c.932T>C (p.Ile311Thr)
|
rs757221051
|
0.00001
|
NM_001099274.3(TINF2):c.967G>C (p.Ala323Pro)
|
rs755072937
|
0.00001
|
NM_001099274.3(TINF2):c.984dup (p.Lys329Ter)
|
rs903141690
|
0.00001
|
NM_001099274.3(TINF2):c.995G>A (p.Cys332Tyr)
|
rs750745512
|
0.00001
|
NM_001363.5(DKC1):c.1006A>G (p.Ile336Val)
|
rs781943265
|
0.00001
|
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala)
|
rs1347625639
|
0.00001
|
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys)
|
rs782193188
|
0.00001
|
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val)
|
rs782117503
|
0.00001
|
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg)
|
rs370788135
|
0.00001
|
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu)
|
rs1557265697
|
0.00001
|
NM_001363.5(DKC1):c.1481G>A (p.Ser494Asn)
|
rs1557265768
|
0.00001
|
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn)
|
rs1370393255
|
0.00001
|
NM_001363.5(DKC1):c.537C>G (p.Ala179=)
|
rs782697778
|
0.00001
|
NM_001363.5(DKC1):c.640+3G>A
|
rs1557264306
|
0.00001
|
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser)
|
rs140273992
|
0.00001
|
NM_017838.4(NHP2):c.161-2A>T
|
rs766032992
|
0.00001
|
NM_017838.4(NHP2):c.182G>A (p.Arg61Gln)
|
rs769920343
|
0.00001
|
NM_017838.4(NHP2):c.215A>G (p.Asn72Ser)
|
rs1756325870
|
0.00001
|
NM_017838.4(NHP2):c.236T>C (p.Met79Thr)
|
rs1426285845
|
0.00001
|
NM_017838.4(NHP2):c.25G>A (p.Asp9Asn)
|
rs769331750
|
0.00001
|
NM_017838.4(NHP2):c.292T>G (p.Cys98Gly)
|
rs201129701
|
0.00001
|
NM_017838.4(NHP2):c.336G>A (p.Thr112=)
|
rs746472214
|
0.00001
|
NM_017838.4(NHP2):c.434A>T (p.Glu145Val)
|
rs143501297
|
0.00001
|
NM_017838.4(NHP2):c.439C>A (p.Gln147Lys)
|
rs779452625
|
0.00001
|
NM_017838.4(NHP2):c.449C>A (p.Pro150His)
|
rs1401974529
|
0.00001
|
NM_017838.4(NHP2):c.67A>G (p.Thr23Ala)
|
rs1196159721
|
0.00001
|
NM_025099.6(CTC1):c.100C>T (p.Pro34Ser)
|
rs374857685
|
0.00001
|
NM_025099.6(CTC1):c.1077+6C>T
|
rs199696637
|
0.00001
|
NM_025099.6(CTC1):c.1094T>C (p.Val365Ala)
|
rs763967881
|
0.00001
|
NM_025099.6(CTC1):c.1165C>T (p.Arg389Cys)
|
rs780333162
|
0.00001
|
NM_025099.6(CTC1):c.1184T>C (p.Met395Thr)
|
rs1417486388
|
0.00001
|
NM_025099.6(CTC1):c.1187G>A (p.Arg396Gln)
|
rs1478316787
|
0.00001
|
NM_025099.6(CTC1):c.1199G>A (p.Cys400Tyr)
|
rs1483913680
|
0.00001
|
NM_025099.6(CTC1):c.1219C>A (p.His407Asn)
|
rs1286168861
|
0.00001
|
NM_025099.6(CTC1):c.1277G>A (p.Arg426His)
|
rs1215600600
|
0.00001
|
NM_025099.6(CTC1):c.1279G>A (p.Gly427Ser)
|
rs749511585
|
0.00001
|
NM_025099.6(CTC1):c.1282G>A (p.Ala428Thr)
|
rs1382263305
|
0.00001
|
NM_025099.6(CTC1):c.1285G>A (p.Val429Ile)
|
rs191350236
|
0.00001
|
NM_025099.6(CTC1):c.1297A>G (p.Ser433Gly)
|
rs1391872586
|
0.00001
|
NM_025099.6(CTC1):c.1306C>T (p.Arg436Cys)
|
rs764414504
|
0.00001
|
NM_025099.6(CTC1):c.1360G>A (p.Glu454Lys)
|
rs774972007
|
0.00001
|
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly)
|
rs747887601
|
0.00001
|
NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala)
|
rs578120516
|
0.00001
|
NM_025099.6(CTC1):c.1547C>T (p.Pro516Leu)
|
rs747574053
|
0.00001
|
NM_025099.6(CTC1):c.1613A>G (p.Gln538Arg)
|
rs1371252082
|
0.00001
|
NM_025099.6(CTC1):c.1646T>C (p.Phe549Ser)
|
rs1019443155
|
0.00001
|
NM_025099.6(CTC1):c.1673A>G (p.Glu558Gly)
|
rs371121503
|
0.00001
|
NM_025099.6(CTC1):c.1697C>G (p.Ser566Cys)
|
rs1351692819
|
0.00001
|
NM_025099.6(CTC1):c.1756C>G (p.Leu586Val)
|
rs760274760
|
0.00001
|
NM_025099.6(CTC1):c.1759A>C (p.Asn587His)
|
rs774920348
|
0.00001
|
NM_025099.6(CTC1):c.1801G>A (p.Ala601Thr)
|
rs963962577
|
0.00001
|
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp)
|
rs759039504
|
0.00001
|
NM_025099.6(CTC1):c.1871G>A (p.Arg624Gln)
|
rs377423237
|
0.00001
|
NM_025099.6(CTC1):c.1909A>G (p.Lys637Glu)
|
rs773628396
|
0.00001
|
NM_025099.6(CTC1):c.1937G>A (p.Arg646Gln)
|
rs1243670945
|
0.00001
|
NM_025099.6(CTC1):c.1974G>T (p.Gln658His)
|
rs779228652
|
0.00001
|
NM_025099.6(CTC1):c.1993G>A (p.Val665Met)
|
rs751450242
|
0.00001
|
NM_025099.6(CTC1):c.2008C>T (p.Pro670Ser)
|
rs750104621
|
0.00001
|
NM_025099.6(CTC1):c.2089G>A (p.Ala697Thr)
|
rs778524852
|
0.00001
|
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr)
|
rs1567604032
|
0.00001
|
NM_025099.6(CTC1):c.2141C>T (p.Thr714Ile)
|
rs547897675
|
0.00001
|
NM_025099.6(CTC1):c.21G>C (p.Gln7His)
|
rs370153216
|
0.00001
|
NM_025099.6(CTC1):c.221A>G (p.Lys74Arg)
|
rs774606496
|
0.00001
|
NM_025099.6(CTC1):c.2230C>T (p.Arg744Cys)
|
rs752134243
|
0.00001
|
NM_025099.6(CTC1):c.2249C>A (p.Pro750Gln)
|
rs1417430299
|
0.00001
|
NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys)
|
rs376729433
|
0.00001
|
NM_025099.6(CTC1):c.2312G>A (p.Gly771Glu)
|
rs1287605629
|
0.00001
|
NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln)
|
rs753665719
|
0.00001
|
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp)
|
rs1427706121
|
0.00001
|
NM_025099.6(CTC1):c.2356C>A (p.Pro786Thr)
|
rs1026203083
|
0.00001
|
NM_025099.6(CTC1):c.2416C>T (p.Arg806Cys)
|
rs758151645
|
0.00001
|
NM_025099.6(CTC1):c.2417G>A (p.Arg806His)
|
rs750387015
|
0.00001
|
NM_025099.6(CTC1):c.2421G>T (p.Trp807Cys)
|
rs765221206
|
0.00001
|
NM_025099.6(CTC1):c.2437C>T (p.Pro813Ser)
|
rs776324067
|
0.00001
|
NM_025099.6(CTC1):c.2438C>T (p.Pro813Leu)
|
rs764138772
|
0.00001
|
NM_025099.6(CTC1):c.2477C>A (p.Thr826Lys)
|
rs757061571
|
0.00001
|
NM_025099.6(CTC1):c.2564A>G (p.Gln855Arg)
|
rs1226186528
|
0.00001
|
NM_025099.6(CTC1):c.2576C>T (p.Thr859Ile)
|
rs754425018
|
0.00001
|
NM_025099.6(CTC1):c.25C>T (p.Pro9Ser)
|
rs1034774367
|
0.00001
|
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu)
|
rs761241839
|
0.00001
|
NM_025099.6(CTC1):c.2698G>A (p.Ala900Thr)
|
rs371670247
|
0.00001
|
NM_025099.6(CTC1):c.26C>G (p.Pro9Arg)
|
rs377386669
|
0.00001
|
NM_025099.6(CTC1):c.2729C>A (p.Pro910His)
|
rs532454635
|
0.00001
|
NM_025099.6(CTC1):c.2759-10C>A
|
rs766460177
|
0.00001
|
NM_025099.6(CTC1):c.275A>G (p.Tyr92Cys)
|
rs753289258
|
0.00001
|
NM_025099.6(CTC1):c.2765C>T (p.Thr922Met)
|
rs760623153
|
0.00001
|
NM_025099.6(CTC1):c.286G>T (p.Ala96Ser)
|
rs751570124
|
0.00001
|
NM_025099.6(CTC1):c.2897G>A (p.Arg966Gln)
|
rs759485791
|
0.00001
|
NM_025099.6(CTC1):c.28T>A (p.Ser10Thr)
|
rs781595383
|
0.00001
|
NM_025099.6(CTC1):c.2972A>G (p.Tyr991Cys)
|
rs1471047572
|
0.00001
|
NM_025099.6(CTC1):c.2993C>T (p.Pro998Leu)
|
rs368344044
|
0.00001
|
NM_025099.6(CTC1):c.2996C>A (p.Pro999His)
|
rs780572571
|
0.00001
|
NM_025099.6(CTC1):c.2996C>T (p.Pro999Leu)
|
rs780572571
|
0.00001
|
NM_025099.6(CTC1):c.3113A>G (p.Gln1038Arg)
|
rs1486092046
|
0.00001
|
NM_025099.6(CTC1):c.3157-3C>T
|
rs1010558106
|
0.00001
|
NM_025099.6(CTC1):c.3221G>A (p.Arg1074Lys)
|
rs751960515
|
0.00001
|
NM_025099.6(CTC1):c.3269A>G (p.Asn1090Ser)
|
rs368562418
|
0.00001
|
NM_025099.6(CTC1):c.3273C>A (p.His1091Gln)
|
rs564631876
|
0.00001
|
NM_025099.6(CTC1):c.3293G>A (p.Gly1098Glu)
|
rs1986954991
|
0.00001
|
NM_025099.6(CTC1):c.3305G>A (p.Arg1102Lys)
|
rs372789589
|
0.00001
|
NM_025099.6(CTC1):c.3323T>C (p.Leu1108Pro)
|
rs1445322884
|
0.00001
|
NM_025099.6(CTC1):c.3369G>T (p.Gly1123=)
|
rs759771248
|
0.00001
|
NM_025099.6(CTC1):c.3400G>T (p.Val1134Phe)
|
rs1446511863
|
0.00001
|
NM_025099.6(CTC1):c.3403G>A (p.Asp1135Asn)
|
rs755212243
|
0.00001
|
NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys)
|
rs761553012
|
0.00001
|
NM_025099.6(CTC1):c.3420G>A (p.Met1140Ile)
|
rs554183453
|
0.00001
|
NM_025099.6(CTC1):c.3458G>A (p.Arg1153His)
|
rs748674791
|
0.00001
|
NM_025099.6(CTC1):c.3514+3A>G
|
rs759039342
|
0.00001
|
NM_025099.6(CTC1):c.3523C>T (p.Arg1175Trp)
|
rs747504166
|
0.00001
|
NM_025099.6(CTC1):c.3538C>T (p.Gln1180Ter)
|
rs562356966
|
0.00001
|
NM_025099.6(CTC1):c.3620C>T (p.Ser1207Phe)
|
rs892408695
|
0.00001
|
NM_025099.6(CTC1):c.367G>T (p.Asp123Tyr)
|
rs777260624
|
0.00001
|
NM_025099.6(CTC1):c.37C>G (p.Gln13Glu)
|
rs767073205
|
0.00001
|
NM_025099.6(CTC1):c.421G>A (p.Val141Ile)
|
rs532695142
|
0.00001
|
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu)
|
rs542910040
|
0.00001
|
NM_025099.6(CTC1):c.485G>A (p.Arg162His)
|
rs199966003
|
0.00001
|
NM_025099.6(CTC1):c.505G>A (p.Ala169Thr)
|
rs757366100
|
0.00001
|
NM_025099.6(CTC1):c.553C>G (p.Pro185Ala)
|
rs766180217
|
0.00001
|
NM_025099.6(CTC1):c.592G>A (p.Val198Ile)
|
rs989763856
|
0.00001
|
NM_025099.6(CTC1):c.595A>C (p.Thr199Pro)
|
rs1221916551
|
0.00001
|
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser)
|
rs772395506
|
0.00001
|
NM_025099.6(CTC1):c.599C>T (p.Pro200Leu)
|
rs1456198284
|
0.00001
|
NM_025099.6(CTC1):c.5C>A (p.Ala2Glu)
|
rs749391693
|
0.00001
|
NM_025099.6(CTC1):c.740T>C (p.Leu247Pro)
|
rs774742711
|
0.00001
|
NM_025099.6(CTC1):c.770C>T (p.Thr257Ile)
|
rs1007776903
|
0.00001
|
NM_025099.6(CTC1):c.79C>G (p.Leu27Val)
|
rs369069450
|
0.00001
|
NM_025099.6(CTC1):c.817A>G (p.Arg273Gly)
|
rs370483878
|
0.00001
|
NM_025099.6(CTC1):c.855A>C (p.Glu285Asp)
|
rs1987719230
|
0.00001
|
NM_025099.6(CTC1):c.883C>T (p.Arg295Cys)
|
rs373549661
|
0.00001
|
NM_025099.6(CTC1):c.888G>T (p.Gln296His)
|
rs199553763
|
0.00001
|
NM_025099.6(CTC1):c.917G>A (p.Arg306His)
|
rs567779457
|
0.00001
|
NM_025099.6(CTC1):c.949G>C (p.Glu317Gln)
|
rs1480736168
|
0.00001
|
NM_025099.6(CTC1):c.992C>G (p.Pro331Arg)
|
rs765673141
|
0.00001
|
NM_025099.6(CTC1):c.995A>G (p.Lys332Arg)
|
rs937598790
|
0.00001
|
NC_000005.10:g.(?_177600191)_(178153837_?)dup
|
|
|
NC_000005.10:g.(?_178149693)_(178153837_?)del
|
|
|
NC_000005.10:g.(?_178149693)_(178153837_?)dup
|
|
|
NC_000005.10:g.(?_178149707)_(178153823_?)del
|
|
|
NC_000005.9:g.(?_177419710)_(177578014_?)dup
|
|
|
NC_000014.8:g.(?_24707479)_(24711538_?)dup
|
|
|
NC_000014.8:g.(?_24711327)_(24731558_?)dup
|
|
|
NC_000017.10:g.(?_6589506)_(8151374_?)dup
|
|
|
NC_000017.10:g.(?_8131498)_(8285628_?)dup
|
|
|
NC_000017.11:g.(?_8228170)_(8382320_?)dup
|
|
|
NC_000023.10:g.(?_152014869)_(154563736_?)del
|
|
|
NC_000023.10:g.(?_153991099)_(154005162_?)dup
|
|
|
NC_000023.10:g.(?_153991100)_(153993815_?)dup
|
|
|
NC_000023.10:g.(?_153991100)_(154005142_?)dup
|
|
|
NM_001099274.3(TINF2):c.1010G>A (p.Gly337Glu)
|
|
|
NM_001099274.3(TINF2):c.1010del (p.Gly337fs)
|
rs756029660
|
|
NM_001099274.3(TINF2):c.1010dup (p.Arg338fs)
|
|
|
NM_001099274.3(TINF2):c.1012A>G (p.Arg338Gly)
|
|
|
NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val)
|
rs1566366492
|
|
NM_001099274.3(TINF2):c.1019T>C (p.Leu340Pro)
|
|
|
NM_001099274.3(TINF2):c.1025A>C (p.Glu342Ala)
|
rs1555303978
|
|
NM_001099274.3(TINF2):c.1027_1028del (p.Asn343fs)
|
|
|
NM_001099274.3(TINF2):c.1033G>C (p.Val345Leu)
|
|
|
NM_001099274.3(TINF2):c.1048A>G (p.Thr350Ala)
|
|
|
NM_001099274.3(TINF2):c.104T>C (p.Leu35Pro)
|
rs1440307893
|
|
NM_001099274.3(TINF2):c.1058dup (p.Glu354fs)
|
rs2040546606
|
|
NM_001099274.3(TINF2):c.1061+1G>T
|
rs1594550523
|
|
NM_001099274.3(TINF2):c.1061+4_1061+7del
|
|
|
NM_001099274.3(TINF2):c.1062-15T>C
|
|
|
NM_001099274.3(TINF2):c.1062-18T>C
|
|
|
NM_001099274.3(TINF2):c.1062-2A>G
|
|
|
NM_001099274.3(TINF2):c.1067G>A (p.Cys356Tyr)
|
rs1459244615
|
|
NM_001099274.3(TINF2):c.1070_1078dup (p.Cys359_Tyr360insLeuAspCys)
|
|
|
NM_001099274.3(TINF2):c.1075del (p.Cys359fs)
|
|
|
NM_001099274.3(TINF2):c.1076G>C (p.Cys359Ser)
|
rs368350757
|
|
NM_001099274.3(TINF2):c.1079A>G (p.Tyr360Cys)
|
|
|
NM_001099274.3(TINF2):c.1083G>A (p.Met361Ile)
|
rs2040542787
|
|
NM_001099274.3(TINF2):c.1087C>T (p.Pro363Ser)
|
|
|
NM_001099274.3(TINF2):c.1093A>G (p.Arg365Gly)
|
rs374740382
|
|
NM_001099274.3(TINF2):c.1096C>A (p.Leu366Ile)
|
rs2138996481
|
|
NM_001099274.3(TINF2):c.1108C>T (p.Pro370Ser)
|
rs2040541718
|
|
NM_001099274.3(TINF2):c.1123_1129+1del
|
rs1335513287
|
|
NM_001099274.3(TINF2):c.1128A>T (p.Pro376=)
|
rs2138996390
|
|
NM_001099274.3(TINF2):c.1130-1G>T
|
rs769640244
|
|
NM_001099274.3(TINF2):c.1130-3_1130-2del
|
rs761173366
|
|
NM_001099274.3(TINF2):c.1130-4A>T
|
|
|
NM_001099274.3(TINF2):c.1136C>G (p.Pro379Arg)
|
|
|
NM_001099274.3(TINF2):c.1151G>A (p.Ser384Asn)
|
|
|
NM_001099274.3(TINF2):c.1157T>A (p.Val386Asp)
|
|
|
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly)
|
rs1367518236
|
|
NM_001099274.3(TINF2):c.1166T>A (p.Ile389Lys)
|
rs192423622
|
|
NM_001099274.3(TINF2):c.1166T>G (p.Ile389Arg)
|
|
|
NM_001099274.3(TINF2):c.1188TGA[1] (p.Asp397del)
|
|
|
NM_001099274.3(TINF2):c.1209G>C (p.Gln403His)
|
|
|
NM_001099274.3(TINF2):c.1209G>T (p.Gln403His)
|
|
|
NM_001099274.3(TINF2):c.1211G>A (p.Gly404Glu)
|
rs765918306
|
|
NM_001099274.3(TINF2):c.1211G>T (p.Gly404Val)
|
rs765918306
|
|
NM_001099274.3(TINF2):c.1222-2A>G
|
rs1205167406
|
|
NM_001099274.3(TINF2):c.1222-3C>T
|
rs760553298
|
|
NM_001099274.3(TINF2):c.1224A>C (p.Glu408Asp)
|
rs2040530178
|
|
NM_001099274.3(TINF2):c.1231G>C (p.Glu411Gln)
|
|
|
NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu)
|
|
|
NM_001099274.3(TINF2):c.1250A>C (p.Lys417Thr)
|
|
|
NM_001099274.3(TINF2):c.1267C>T (p.Pro423Ser)
|
|
|
NM_001099274.3(TINF2):c.1271C>T (p.Thr424Ile)
|
rs1346082542
|
|
NM_001099274.3(TINF2):c.1280A>G (p.Glu427Gly)
|
|
|
NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile)
|
rs780647966
|
|
NM_001099274.3(TINF2):c.1285C>G (p.Leu429Val)
|
rs780647966
|
|
NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr)
|
rs374776408
|
|
NM_001099274.3(TINF2):c.1288C>G (p.Pro430Ala)
|
|
|
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser)
|
rs374776408
|
|
NM_001099274.3(TINF2):c.1289C>T (p.Pro430Leu)
|
|
|
NM_001099274.3(TINF2):c.1291C>G (p.Pro431Ala)
|
rs756840009
|
|
NM_001099274.3(TINF2):c.1292C>A (p.Pro431His)
|
|
|
NM_001099274.3(TINF2):c.1292del (p.Pro431fs)
|
rs770529422
|
|
NM_001099274.3(TINF2):c.1300C>G (p.His434Asp)
|
|
|
NM_001099274.3(TINF2):c.1302C>A (p.His434Gln)
|
|
|
NM_001099274.3(TINF2):c.1304G>A (p.Gly435Asp)
|
|
|
NM_001099274.3(TINF2):c.1307C>G (p.Ala436Gly)
|
|
|
NM_001099274.3(TINF2):c.131T>A (p.Val44Asp)
|
rs1282299077
|
|
NM_001099274.3(TINF2):c.131T>C (p.Val44Ala)
|
|
|
NM_001099274.3(TINF2):c.1331G>A (p.Cys444Tyr)
|
rs1455962316
|
|
NM_001099274.3(TINF2):c.1333A>G (p.Arg445Gly)
|
rs2138994183
|
|
NM_001099274.3(TINF2):c.1343C>T (p.Ser448Phe)
|
|
|
NM_001099274.3(TINF2):c.1349C>T (p.Pro450Leu)
|
|
|
NM_001099274.3(TINF2):c.138del (p.Gly47fs)
|
|
|
NM_001099274.3(TINF2):c.144G>C (p.Leu48Phe)
|
rs2139003740
|
|
NM_001099274.3(TINF2):c.163G>A (p.Glu55Lys)
|
rs757133062
|
|
NM_001099274.3(TINF2):c.169del (p.Leu57fs)
|
|
|
NM_001099274.3(TINF2):c.16G>C (p.Val6Leu)
|
|
|
NM_001099274.3(TINF2):c.176T>C (p.Met59Thr)
|
rs376204748
|
|
NM_001099274.3(TINF2):c.17dup (p.Ala7fs)
|
|
|
NM_001099274.3(TINF2):c.199G>A (p.Val67Met)
|
rs2040591219
|
|
NM_001099274.3(TINF2):c.19G>C (p.Ala7Pro)
|
rs1329482510
|
|
NM_001099274.3(TINF2):c.209T>C (p.Ile70Thr)
|
|
|
NM_001099274.3(TINF2):c.20C>T (p.Ala7Val)
|
rs2040599044
|
|
NM_001099274.3(TINF2):c.215A>T (p.Gln72Leu)
|
rs2139003147
|
|
NM_001099274.3(TINF2):c.217G>C (p.Gly73Arg)
|
rs2040590786
|
|
NM_001099274.3(TINF2):c.218G>A (p.Gly73Asp)
|
rs1566369238
|
|
NM_001099274.3(TINF2):c.230C>T (p.Ala77Val)
|
rs1324581269
|
|
NM_001099274.3(TINF2):c.233A>G (p.Gln78Arg)
|
rs2139003067
|
|
NM_001099274.3(TINF2):c.239T>C (p.Leu80Pro)
|
|
|
NM_001099274.3(TINF2):c.250A>C (p.Asn84His)
|
|
|
NM_001099274.3(TINF2):c.257_258del (p.His86fs)
|
rs2040589135
|
|
NM_001099274.3(TINF2):c.262C>A (p.Pro88Thr)
|
rs2139002944
|
|
NM_001099274.3(TINF2):c.274C>T (p.Pro92Ser)
|
rs2040588888
|
|
NM_001099274.3(TINF2):c.293A>C (p.Lys98Thr)
|
|
|
NM_001099274.3(TINF2):c.295G>C (p.Ala99Pro)
|
|
|
NM_001099274.3(TINF2):c.297+1G>A
|
|
|
NM_001099274.3(TINF2):c.297+4A>G
|
|
|
NM_001099274.3(TINF2):c.297+5G>A
|
rs2139002864
|
|
NM_001099274.3(TINF2):c.307G>C (p.Asp103His)
|
|
|
NM_001099274.3(TINF2):c.316A>G (p.Lys106Glu)
|
rs2040584780
|
|
NM_001099274.3(TINF2):c.31G>C (p.Ala11Pro)
|
|
|
NM_001099274.3(TINF2):c.324G>C (p.Leu108Phe)
|
rs2139002450
|
|
NM_001099274.3(TINF2):c.333G>T (p.Gln111His)
|
|
|
NM_001099274.3(TINF2):c.334G>C (p.Glu112Gln)
|
|
|
NM_001099274.3(TINF2):c.342_343del (p.Phe114fs)
|
rs2139002396
|
|
NM_001099274.3(TINF2):c.344A>G (p.Tyr115Cys)
|
rs1594554700
|
|
NM_001099274.3(TINF2):c.370G>C (p.Ala124Pro)
|
rs2040583306
|
|
NM_001099274.3(TINF2):c.37C>T (p.Arg13Cys)
|
rs2040598351
|
|
NM_001099274.3(TINF2):c.386C>T (p.Ala129Val)
|
|
|
NM_001099274.3(TINF2):c.389C>G (p.Ser130Trp)
|
|
|
NM_001099274.3(TINF2):c.400-3T>C
|
rs2040574912
|
|
NM_001099274.3(TINF2):c.415T>G (p.Tyr139Asp)
|
|
|
NM_001099274.3(TINF2):c.425C>G (p.Pro142Arg)
|
rs770995315
|
|
NM_001099274.3(TINF2):c.43G>C (p.Ala15Pro)
|
|
|
NM_001099274.3(TINF2):c.455T>C (p.Phe152Ser)
|
|
|
NM_001099274.3(TINF2):c.487C>T (p.Pro163Ser)
|
|
|
NM_001099274.3(TINF2):c.493C>T (p.Pro165Ser)
|
rs2139000919
|
|
NM_001099274.3(TINF2):c.507+12G>A
|
|
|
NM_001099274.3(TINF2):c.507+6G>T
|
rs142144996
|
|
NM_001099274.3(TINF2):c.517G>A (p.Val173Met)
|
rs2040569011
|
|
NM_001099274.3(TINF2):c.526T>C (p.Trp176Arg)
|
|
|
NM_001099274.3(TINF2):c.529A>T (p.Met177Leu)
|
|
|
NM_001099274.3(TINF2):c.530T>G (p.Met177Arg)
|
|
|
NM_001099274.3(TINF2):c.553T>A (p.Ser185Thr)
|
rs2139000156
|
|
NM_001099274.3(TINF2):c.557C>T (p.Ser186Phe)
|
|
|
NM_001099274.3(TINF2):c.567G>T (p.Trp189Cys)
|
|
|
NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys)
|
rs1382407347
|
|
NM_001099274.3(TINF2):c.586A>G (p.Met196Val)
|
rs2040566613
|
|
NM_001099274.3(TINF2):c.588G>C (p.Met196Ile)
|
rs1416935989
|
|
NM_001099274.3(TINF2):c.604G>C (p.Glu202Gln)
|
|
|
NM_001099274.3(TINF2):c.606del (p.Glu202fs)
|
rs2138999397
|
|
NM_001099274.3(TINF2):c.630C>G (p.Asn210Lys)
|
|
|
NM_001099274.3(TINF2):c.640C>A (p.Pro214Thr)
|
rs372610524
|
|
NM_001099274.3(TINF2):c.648A>C (p.Glu216Asp)
|
|
|
NM_001099274.3(TINF2):c.64G>A (p.Val22Ile)
|
|
|
NM_001099274.3(TINF2):c.659C>T (p.Pro220Leu)
|
rs2040560743
|
|
NM_001099274.3(TINF2):c.667C>G (p.Gln223Glu)
|
|
|
NM_001099274.3(TINF2):c.670A>G (p.Arg224Gly)
|
rs747792016
|
|
NM_001099274.3(TINF2):c.684C>A (p.His228Gln)
|
rs370555134
|
|
NM_001099274.3(TINF2):c.686A>G (p.Asn229Ser)
|
|
|
NM_001099274.3(TINF2):c.695C>T (p.Pro232Leu)
|
|
|
NM_001099274.3(TINF2):c.707C>T (p.Pro236Leu)
|
rs2040559007
|
|
NM_001099274.3(TINF2):c.70C>T (p.Arg24Cys)
|
rs2139004072
|
|
NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe)
|
rs1594551965
|
|
NM_001099274.3(TINF2):c.73G>A (p.Gly25Arg)
|
|
|
NM_001099274.3(TINF2):c.751G>C (p.Glu251Gln)
|
|
|
NM_001099274.3(TINF2):c.757C>G (p.Leu253Val)
|
|
|
NM_001099274.3(TINF2):c.766C>T (p.Arg256Ter)
|
|
|
NM_001099274.3(TINF2):c.769C>T (p.His257Tyr)
|
|
|
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val)
|
rs1594551733
|
|
NM_001099274.3(TINF2):c.790G>A (p.Gly264Ser)
|
|
|
NM_001099274.3(TINF2):c.794G>A (p.Arg265Gln)
|
|
|
NM_001099274.3(TINF2):c.79T>C (p.Cys27Arg)
|
rs2040597244
|
|
NM_001099274.3(TINF2):c.801A>C (p.Arg267Ser)
|
|
|
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)
|
rs1060499576
|
|
NM_001099274.3(TINF2):c.82G>C (p.Val28Leu)
|
|
|
NM_001099274.3(TINF2):c.838A>C (p.Lys280Gln)
|
|
|
NM_001099274.3(TINF2):c.880G>A (p.Gly294Ser)
|
|
|
NM_001099274.3(TINF2):c.896T>C (p.Val299Ala)
|
rs1050040349
|
|
NM_001099274.3(TINF2):c.900A>G (p.Ile300Met)
|
|
|
NM_001099274.3(TINF2):c.906G>C (p.Lys302Asn)
|
|
|
NM_001099274.3(TINF2):c.910G>A (p.Glu304Lys)
|
rs1566366788
|
|
NM_001099274.3(TINF2):c.914G>A (p.Ser305Asn)
|
|
|
NM_001099274.3(TINF2):c.914G>C (p.Ser305Thr)
|
rs746657282
|
|
NM_001099274.3(TINF2):c.917A>G (p.Lys306Arg)
|
rs1555304016
|
|
NM_001099274.3(TINF2):c.919del (p.Glu307fs)
|
|
|
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln)
|
rs1232383398
|
|
NM_001099274.3(TINF2):c.926A>T (p.His309Leu)
|
|
|
NM_001099274.3(TINF2):c.927T>G (p.His309Gln)
|
|
|
NM_001099274.3(TINF2):c.928G>A (p.Ala310Thr)
|
rs745711329
|
|
NM_001099274.3(TINF2):c.929C>T (p.Ala310Val)
|
rs2040550859
|
|
NM_001099274.3(TINF2):c.937A>T (p.Thr313Ser)
|
rs1391029850
|
|
NM_001099274.3(TINF2):c.93T>G (p.Phe31Leu)
|
|
|
NM_001099274.3(TINF2):c.954G>C (p.Met318Ile)
|
|
|
NM_001099274.3(TINF2):c.95C>T (p.Pro32Leu)
|
|
|
NM_001099274.3(TINF2):c.968C>T (p.Ala323Val)
|
|
|
NM_001099274.3(TINF2):c.985A>G (p.Lys329Glu)
|
rs1238940302
|
|
NM_001099274.3(TINF2):c.986A>G (p.Lys329Arg)
|
|
|
NM_001363.5(DKC1):c.1027A>G (p.Ile343Val)
|
rs958540765
|
|
NM_001363.5(DKC1):c.1036+6_1036+7del
|
rs1557264868
|
|
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val)
|
rs1248744087
|
|
NM_001363.5(DKC1):c.1066T>C (p.Ser356Pro)
|
|
|
NM_001363.5(DKC1):c.1091C>G (p.Ala364Gly)
|
rs2148515101
|
|
NM_001363.5(DKC1):c.1114G>C (p.Glu372Gln)
|
rs2148515114
|
|
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)
|
rs1057520719
|
|
NM_001363.5(DKC1):c.1171C>A (p.Leu391Met)
|
rs2148516382
|
|
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)
|
rs121912302
|
|
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)
|
rs199422254
|
|
NM_001363.5(DKC1):c.1275_1277del (p.Glu426del)
|
|
|
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln)
|
rs2071881185
|
|
NM_001363.5(DKC1):c.1281_1310del (p.Val431_Glu440del)
|
|
|
NM_001363.5(DKC1):c.1293_1295del (p.Val432del)
|
|
|
NM_001363.5(DKC1):c.1304C>T (p.Pro435Leu)
|
|
|
NM_001363.5(DKC1):c.1328A>C (p.Lys443Thr)
|
|
|
NM_001363.5(DKC1):c.1338+3G>C
|
|
|
NM_001363.5(DKC1):c.1343A>G (p.Lys448Arg)
|
rs2148517505
|
|
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro)
|
rs1289430524
|
|
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn)
|
rs2071893244
|
|
NM_001363.5(DKC1):c.1352G>C (p.Ser451Thr)
|
rs2071893244
|
|
NM_001363.5(DKC1):c.1373C>G (p.Thr458Ser)
|
rs2071893601
|
|
NM_001363.5(DKC1):c.1373C>T (p.Thr458Ile)
|
|
|
NM_001363.5(DKC1):c.1387C>A (p.Pro463Thr)
|
rs782434084
|
|
NM_001363.5(DKC1):c.1398C>G (p.Ile466Met)
|
|
|
NM_001363.5(DKC1):c.142G>A (p.Asp48Asn)
|
|
|
NM_001363.5(DKC1):c.1462G>A (p.Glu488Lys)
|
|
|
NM_001363.5(DKC1):c.1477-14_1477-11del
|
|
|
NM_001363.5(DKC1):c.1477-1G>C
|
rs2148517984
|
|
NM_001363.5(DKC1):c.1494GAA[4] (p.Lys503_Lys505del)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn)
|
rs1557265783
|
|
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp)
|
rs186518477
|
|
NM_001363.5(DKC1):c.191T>G (p.Val64Gly)
|
rs2071739379
|
|
NM_001363.5(DKC1):c.211C>T (p.Pro71Ser)
|
|
|
NM_001363.5(DKC1):c.220T>C (p.Cys74Arg)
|
rs2148509751
|
|
NM_001363.5(DKC1):c.244G>C (p.Glu82Gln)
|
|
|
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn)
|
rs2148509772
|
|
NM_001363.5(DKC1):c.263+6T>C
|
rs2071741038
|
|
NM_001363.5(DKC1):c.277A>T (p.Asn93Tyr)
|
rs2148509897
|
|
NM_001363.5(DKC1):c.332G>A (p.Arg111Gln)
|
rs1036880108
|
|
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)
|
rs121912305
|
|
NM_001363.5(DKC1):c.421C>A (p.Arg141Ser)
|
|
|
NM_001363.5(DKC1):c.421C>T (p.Arg141Cys)
|
|
|
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del)
|
rs782201995
|
|
NM_001363.5(DKC1):c.484G>A (p.Ala162Thr)
|
rs2071754474
|
|
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu)
|
rs782159247
|
|
NM_001363.5(DKC1):c.494G>T (p.Gly165Val)
|
rs782622660
|
|
NM_001363.5(DKC1):c.52_54del (p.Glu18del)
|
rs2071726998
|
|
NM_001363.5(DKC1):c.548G>A (p.Arg183Gln)
|
|
|
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)
|
|
|
NM_001363.5(DKC1):c.568G>A (p.Val190Ile)
|
rs2071758363
|
|
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly)
|
rs2071759206
|
|
NM_001363.5(DKC1):c.62C>T (p.Ser21Leu)
|
|
|
NM_001363.5(DKC1):c.67C>A (p.Pro23Thr)
|
|
|
NM_001363.5(DKC1):c.70G>A (p.Glu24Lys)
|
rs2148509194
|
|
NM_001363.5(DKC1):c.739C>A (p.Arg247=)
|
|
|
NM_001363.5(DKC1):c.75A>T (p.Glu25Asp)
|
|
|
NM_001363.5(DKC1):c.763A>G (p.Ser255Gly)
|
|
|
NM_001363.5(DKC1):c.778A>G (p.Met260Val)
|
|
|
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe)
|
rs2071791712
|
|
NM_001363.5(DKC1):c.88A>G (p.Ile30Val)
|
|
|
NM_001363.5(DKC1):c.948G>T (p.Met316Ile)
|
rs2148513624
|
|
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)
|
rs121912291
|
|
NM_001363.5(DKC1):c.979A>G (p.Ile327Val)
|
rs2071814299
|
|
NM_001363.5(DKC1):c.985G>A (p.Val329Ile)
|
rs2071814456
|
|
NM_001363.5(DKC1):c.993G>T (p.Gln331His)
|
|
|
NM_017838.4(NHP2):c.104C>T (p.Ala35Val)
|
|
|
NM_017838.4(NHP2):c.106dup (p.Gln36fs)
|
rs1756333644
|
|
NM_017838.4(NHP2):c.115G>A (p.Ala39Thr)
|
|
|
NM_017838.4(NHP2):c.116C>A (p.Ala39Asp)
|
rs1439650238
|
|
NM_017838.4(NHP2):c.120_122del (p.Arg42del)
|
|
|
NM_017838.4(NHP2):c.122_129del (p.Arg41fs)
|
rs1756332858
|
|
NM_017838.4(NHP2):c.130A>T (p.Thr44Ser)
|
|
|
NM_017838.4(NHP2):c.155A>G (p.Lys52Arg)
|
rs2113476542
|
|
NM_017838.4(NHP2):c.156G>C (p.Lys52Asn)
|
|
|
NM_017838.4(NHP2):c.157A>G (p.Lys53Glu)
|
|
|
NM_017838.4(NHP2):c.160+4A>C
|
rs1419452406
|
|
NM_017838.4(NHP2):c.160+4A>G
|
|
|
NM_017838.4(NHP2):c.160+5G>C
|
|
|
NM_017838.4(NHP2):c.160G>A (p.Ala54Thr)
|
|
|
NM_017838.4(NHP2):c.163G>A (p.Val55Met)
|
rs1756327381
|
|
NM_017838.4(NHP2):c.167A>G (p.Lys56Arg)
|
rs2113476084
|
|
NM_017838.4(NHP2):c.172A>C (p.Lys58Gln)
|
|
|
NM_017838.4(NHP2):c.177G>C (p.Gln59His)
|
rs2113476075
|
|
NM_017838.4(NHP2):c.17C>T (p.Ala6Val)
|
|
|
NM_017838.4(NHP2):c.181C>T (p.Arg61Trp)
|
rs773420072
|
|
NM_017838.4(NHP2):c.187G>C (p.Gly63Arg)
|
rs1756326801
|
|
NM_017838.4(NHP2):c.196G>A (p.Glu66Lys)
|
|
|
NM_017838.4(NHP2):c.197_198del (p.Glu66fs)
|
rs1333837047
|
|
NM_017838.4(NHP2):c.19G>C (p.Asp7His)
|
rs1581138326
|
|
NM_017838.4(NHP2):c.204G>T (p.Gln68His)
|
|
|
NM_017838.4(NHP2):c.216C>G (p.Asn72Lys)
|
|
|
NM_017838.4(NHP2):c.220G>A (p.Gly74Arg)
|
|
|
NM_017838.4(NHP2):c.228A>C (p.Lys76Asn)
|
rs2113475874
|
|
NM_017838.4(NHP2):c.230+4dup
|
rs1581137979
|
|
NM_017838.4(NHP2):c.231-9T>C
|
|
|
NM_017838.4(NHP2):c.231G>C (p.Gly77=)
|
|
|
NM_017838.4(NHP2):c.233T>A (p.Ile78Asn)
|
rs1348885486
|
|
NM_017838.4(NHP2):c.237G>A (p.Met79Ile)
|
rs1561644268
|
|
NM_017838.4(NHP2):c.259C>T (p.Pro87Ser)
|
|
|
NM_017838.4(NHP2):c.262A>G (p.Ile88Val)
|
|
|
NM_017838.4(NHP2):c.266A>C (p.Glu89Ala)
|
|
|
NM_017838.4(NHP2):c.267_270del (p.Glu89fs)
|
rs754436041
|
|
NM_017838.4(NHP2):c.28G>A (p.Gly10Arg)
|
|
|
NM_017838.4(NHP2):c.2T>G (p.Met1Arg)
|
|
|
NM_017838.4(NHP2):c.314A>G (p.Tyr105Cys)
|
rs772671488
|
|
NM_017838.4(NHP2):c.319T>A (p.Tyr107Asn)
|
|
|
NM_017838.4(NHP2):c.319dup (p.Tyr107fs)
|
|
|
NM_017838.4(NHP2):c.320A>G (p.Tyr107Cys)
|
rs760076146
|
|
NM_017838.4(NHP2):c.326C>T (p.Pro109Leu)
|
|
|
NM_017838.4(NHP2):c.336+2T>C
|
|
|
NM_017838.4(NHP2):c.34G>C (p.Glu12Gln)
|
rs1296058145
|
|
NM_017838.4(NHP2):c.355G>A (p.Gly119Ser)
|
|
|
NM_017838.4(NHP2):c.355G>C (p.Gly119Arg)
|
rs750874926
|
|
NM_017838.4(NHP2):c.362A>G (p.Lys121Arg)
|
rs2113463207
|
|
NM_017838.4(NHP2):c.364C>A (p.Arg122Ser)
|
|
|
NM_017838.4(NHP2):c.364C>T (p.Arg122Cys)
|
rs752392516
|
|
NM_017838.4(NHP2):c.365G>A (p.Arg122His)
|
|
|
NM_017838.4(NHP2):c.369dup (p.Thr124fs)
|
|
|
NM_017838.4(NHP2):c.383T>C (p.Met128Thr)
|
rs759145032
|
|
NM_017838.4(NHP2):c.391C>A (p.Pro131Thr)
|
|
|
NM_017838.4(NHP2):c.397G>A (p.Glu133Lys)
|
|
|
NM_017838.4(NHP2):c.397GAG[1] (p.Glu134del)
|
rs1756214889
|
|
NM_017838.4(NHP2):c.418G>A (p.Asp140Asn)
|
rs1214412834
|
|
NM_017838.4(NHP2):c.422A>G (p.Glu141Gly)
|
|
|
NM_017838.4(NHP2):c.436G>C (p.Val146Leu)
|
|
|
NM_017838.4(NHP2):c.439C>T (p.Gln147Ter)
|
|
|
NM_017838.4(NHP2):c.455C>T (p.Pro152Leu)
|
|
|
NM_017838.4(NHP2):c.460T>G (p.Ter154Gly)
|
rs121908091
|
|
NM_017838.4(NHP2):c.53G>A (p.Cys18Tyr)
|
rs1373808491
|
|
NM_017838.4(NHP2):c.61dup (p.Glu21fs)
|
rs780613876
|
|
NM_017838.4(NHP2):c.68C>T (p.Thr23Ile)
|
rs1341101133
|
|
NM_017838.4(NHP2):c.80T>A (p.Leu27Gln)
|
|
|
NM_025099.6(CTC1):c.1003C>T (p.Pro335Ser)
|
|
|
NM_025099.6(CTC1):c.1009C>G (p.Pro337Ala)
|
rs2151523075
|
|
NM_025099.6(CTC1):c.1019C>G (p.Ser340Trp)
|
rs771874794
|
|
NM_025099.6(CTC1):c.1019C>T (p.Ser340Leu)
|
|
|
NM_025099.6(CTC1):c.1026C>G (p.Asp342Glu)
|
rs776408496
|
|
NM_025099.6(CTC1):c.1036C>G (p.Pro346Ala)
|
rs2151522938
|
|
NM_025099.6(CTC1):c.1036C>T (p.Pro346Ser)
|
rs2151522938
|
|
NM_025099.6(CTC1):c.1046T>G (p.Leu349Arg)
|
rs2151522868
|
|
NM_025099.6(CTC1):c.1054T>C (p.Tyr352His)
|
|
|
NM_025099.6(CTC1):c.1059T>C (p.Ser353=)
|
|
|
NM_025099.6(CTC1):c.1064T>C (p.Leu355Pro)
|
|
|
NM_025099.6(CTC1):c.1077G>A (p.Ser359=)
|
rs767741611
|
|
NM_025099.6(CTC1):c.1077G>T (p.Ser359=)
|
|
|
NM_025099.6(CTC1):c.1078-4_1078-3delinsTT
|
rs2151522382
|
|
NM_025099.6(CTC1):c.1084G>C (p.Val362Leu)
|
|
|
NM_025099.6(CTC1):c.1085T>A (p.Val362Asp)
|
|
|
NM_025099.6(CTC1):c.1093G>A (p.Val365Met)
|
rs753519460
|
|
NM_025099.6(CTC1):c.1108G>C (p.Ala370Pro)
|
|
|
NM_025099.6(CTC1):c.1111G>A (p.Gly371Ser)
|
|
|
NM_025099.6(CTC1):c.1115T>C (p.Leu372Pro)
|
|
|
NM_025099.6(CTC1):c.1118A>G (p.Tyr373Cys)
|
rs2151522187
|
|
NM_025099.6(CTC1):c.1120G>A (p.Glu374Lys)
|
rs1987674659
|
|
NM_025099.6(CTC1):c.1133A>G (p.Gln378Arg)
|
rs1987673814
|
|
NM_025099.6(CTC1):c.1151C>G (p.Ala384Gly)
|
rs748695989
|
|
NM_025099.6(CTC1):c.1151C>T (p.Ala384Val)
|
|
|
NM_025099.6(CTC1):c.1171C>T (p.Leu391Phe)
|
|
|
NM_025099.6(CTC1):c.1185_1186delinsAG (p.Met395_Arg396delinsIleGly)
|
rs1987666643
|
|
NM_025099.6(CTC1):c.1195G>A (p.Val399Met)
|
rs1197080779
|
|
NM_025099.6(CTC1):c.1196T>C (p.Val399Ala)
|
|
|
NM_025099.6(CTC1):c.1198T>C (p.Cys400Arg)
|
|
|
NM_025099.6(CTC1):c.119C>T (p.Pro40Leu)
|
|
|
NM_025099.6(CTC1):c.1207C>G (p.Leu403Val)
|
|
|
NM_025099.6(CTC1):c.1211A>G (p.Gln404Arg)
|
|
|
NM_025099.6(CTC1):c.1212G>C (p.Gln404His)
|
|
|
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu)
|
rs62624978
|
|
NM_025099.6(CTC1):c.1270T>G (p.Cys424Gly)
|
|
|
NM_025099.6(CTC1):c.1280G>T (p.Gly427Val)
|
rs781203515
|
|
NM_025099.6(CTC1):c.1283C>T (p.Ala428Val)
|
rs2151520028
|
|
NM_025099.6(CTC1):c.1284_1285delinsTT (p.Val429Phe)
|
rs2151520002
|
|
NM_025099.6(CTC1):c.128T>C (p.Ile43Thr)
|
|
|
NM_025099.6(CTC1):c.1300T>C (p.Phe434Leu)
|
rs761520320
|
|
NM_025099.6(CTC1):c.1316C>T (p.Pro439Leu)
|
rs2151519873
|
|
NM_025099.6(CTC1):c.1328C>T (p.Ser443Leu)
|
|
|
NM_025099.6(CTC1):c.1331C>T (p.Ser444Phe)
|
rs1987600358
|
|
NM_025099.6(CTC1):c.1334G>A (p.Arg445His)
|
rs768361173
|
|
NM_025099.6(CTC1):c.1339G>A (p.Ala447Thr)
|
rs1223603855
|
|
NM_025099.6(CTC1):c.1348G>A (p.Ala450Thr)
|
rs778433916
|
|
NM_025099.6(CTC1):c.1375G>C (p.Glu459Gln)
|
|
|
NM_025099.6(CTC1):c.1383G>T (p.Gln461His)
|
rs145192682
|
|
NM_025099.6(CTC1):c.1397T>A (p.Leu466His)
|
|
|
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly)
|
rs201280372
|
|
NM_025099.6(CTC1):c.1400A>G (p.Tyr467Cys)
|
rs1987589226
|
|
NM_025099.6(CTC1):c.1439A>G (p.Lys480Arg)
|
|
|
NM_025099.6(CTC1):c.1440G>T (p.Lys480Asn)
|
rs770798986
|
|
NM_025099.6(CTC1):c.1466A>C (p.His489Pro)
|
|
|
NM_025099.6(CTC1):c.1480C>T (p.His494Tyr)
|
|
|
NM_025099.6(CTC1):c.1496G>A (p.Ser499Asn)
|
|
|
NM_025099.6(CTC1):c.1498C>G (p.Pro500Ala)
|
rs1359625369
|
|
NM_025099.6(CTC1):c.149_150delinsTT (p.Trp50Phe)
|
|
|
NM_025099.6(CTC1):c.14G>A (p.Arg5Gln)
|
rs1449419140
|
|
NM_025099.6(CTC1):c.1554C>T (p.Gly518=)
|
|
|
NM_025099.6(CTC1):c.1564C>G (p.Arg522Gly)
|
rs199698527
|
|
NM_025099.6(CTC1):c.1576A>G (p.Asn526Asp)
|
rs2151518271
|
|
NM_025099.6(CTC1):c.1585C>T (p.Leu529Phe)
|
rs201560353
|
|
NM_025099.6(CTC1):c.1588G>A (p.Glu530Lys)
|
|
|
NM_025099.6(CTC1):c.1597C>G (p.His533Asp)
|
rs1302748336
|
|
NM_025099.6(CTC1):c.1597C>T (p.His533Tyr)
|
|
|
NM_025099.6(CTC1):c.1602C>A (p.His534Gln)
|
rs1421770599
|
|
NM_025099.6(CTC1):c.1617+5G>A
|
|
|
NM_025099.6(CTC1):c.1617A>G (p.Lys539=)
|
|
|
NM_025099.6(CTC1):c.1625G>C (p.Arg542Pro)
|
|
|
NM_025099.6(CTC1):c.1632G>T (p.Gln544His)
|
|
|
NM_025099.6(CTC1):c.164G>A (p.Arg55Lys)
|
rs2151545851
|
|
NM_025099.6(CTC1):c.1667AAG[2] (p.Glu558del)
|
rs756079894
|
|
NM_025099.6(CTC1):c.1669G>A (p.Glu557Lys)
|
rs1987533999
|
|
NM_025099.6(CTC1):c.166A>C (p.Asn56His)
|
|
|
NM_025099.6(CTC1):c.1679A>G (p.Gln560Arg)
|
|
|
NM_025099.6(CTC1):c.1681C>A (p.Arg561Ser)
|
rs202212634
|
|
NM_025099.6(CTC1):c.1682G>C (p.Arg561Pro)
|
rs373690929
|
|
NM_025099.6(CTC1):c.1688C>T (p.Ala563Val)
|
|
|
NM_025099.6(CTC1):c.1693G>A (p.Ala565Thr)
|
rs2151517418
|
|
NM_025099.6(CTC1):c.1697C>T (p.Ser566Phe)
|
|
|
NM_025099.6(CTC1):c.16G>A (p.Ala6Thr)
|
|
|
NM_025099.6(CTC1):c.16G>T (p.Ala6Ser)
|
|
|
NM_025099.6(CTC1):c.1700T>C (p.Phe567Ser)
|
rs2151517400
|
|
NM_025099.6(CTC1):c.1706C>T (p.Pro569Leu)
|
|
|
NM_025099.6(CTC1):c.170A>G (p.Gln57Arg)
|
rs371868360
|
|
NM_025099.6(CTC1):c.1721C>T (p.Pro574Leu)
|
rs926565387
|
|
NM_025099.6(CTC1):c.1730A>G (p.Glu577Gly)
|
|
|
NM_025099.6(CTC1):c.1733C>T (p.Ala578Val)
|
|
|
NM_025099.6(CTC1):c.173G>A (p.Gly58Asp)
|
rs1988400898
|
|
NM_025099.6(CTC1):c.1766G>A (p.Arg589His)
|
rs771224545
|
|
NM_025099.6(CTC1):c.1766G>T (p.Arg589Leu)
|
|
|
NM_025099.6(CTC1):c.1778C>T (p.Ser593Phe)
|
rs767152748
|
|
NM_025099.6(CTC1):c.1782G>T (p.Trp594Cys)
|
rs2151517027
|
|
NM_025099.6(CTC1):c.1787G>C (p.Cys596Ser)
|
|
|
NM_025099.6(CTC1):c.1818+4A>G
|
|
|
NM_025099.6(CTC1):c.1825C>G (p.Leu609Val)
|
|
|
NM_025099.6(CTC1):c.1838T>C (p.Val613Ala)
|
|
|
NM_025099.6(CTC1):c.1850A>T (p.His617Leu)
|
|
|
NM_025099.6(CTC1):c.1856G>T (p.Gly619Val)
|
rs1987375790
|
|
NM_025099.6(CTC1):c.1859G>A (p.Cys620Tyr)
|
rs766985115
|
|
NM_025099.6(CTC1):c.1859G>T (p.Cys620Phe)
|
|
|
NM_025099.6(CTC1):c.1874A>G (p.Asp625Gly)
|
|
|
NM_025099.6(CTC1):c.1919A>C (p.Gln640Pro)
|
rs1987370776
|
|
NM_025099.6(CTC1):c.191G>A (p.Ser64Asn)
|
|
|
NM_025099.6(CTC1):c.1927A>T (p.Ser643Cys)
|
|
|
NM_025099.6(CTC1):c.1940T>A (p.Leu647Gln)
|
rs1342587450
|
|
NM_025099.6(CTC1):c.1942A>C (p.Ile648Leu)
|
|
|
NM_025099.6(CTC1):c.1946-11T>G
|
|
|
NM_025099.6(CTC1):c.1946-13T>C
|
|
|
NM_025099.6(CTC1):c.1954G>A (p.Val652Met)
|
|
|
NM_025099.6(CTC1):c.1954G>C (p.Val652Leu)
|
|
|
NM_025099.6(CTC1):c.1960G>A (p.Ala654Thr)
|
|
|
NM_025099.6(CTC1):c.1984G>C (p.Glu662Gln)
|
rs1341299177
|
|
NM_025099.6(CTC1):c.1998A>C (p.Arg666Ser)
|
rs757849997
|
|
NM_025099.6(CTC1):c.2019G>A (p.Lys673=)
|
rs2151510979
|
|
NM_025099.6(CTC1):c.2027G>A (p.Ser676Asn)
|
|
|
NM_025099.6(CTC1):c.2029A>G (p.Met677Val)
|
rs1987321255
|
|
NM_025099.6(CTC1):c.2038T>G (p.Phe680Val)
|
rs2151510882
|
|
NM_025099.6(CTC1):c.2044C>G (p.Gln682Glu)
|
|
|
NM_025099.6(CTC1):c.2045A>G (p.Gln682Arg)
|
|
|
NM_025099.6(CTC1):c.2050C>G (p.Gln684Glu)
|
|
|
NM_025099.6(CTC1):c.2055G>C (p.Gln685His)
|
|
|
NM_025099.6(CTC1):c.2056G>A (p.Ala686Thr)
|
|
|
NM_025099.6(CTC1):c.2058C>A (p.Ala686=)
|
|
|
NM_025099.6(CTC1):c.2060+5G>A
|
|
|
NM_025099.6(CTC1):c.2060+6_2060+13del
|
rs2151510765
|
|
NM_025099.6(CTC1):c.2066A>G (p.Tyr689Cys)
|
|
|
NM_025099.6(CTC1):c.2076C>G (p.Phe692Leu)
|
rs369717598
|
|
NM_025099.6(CTC1):c.2113C>G (p.Pro705Ala)
|
|
|
NM_025099.6(CTC1):c.2124T>G (p.His708Gln)
|
|
|
NM_025099.6(CTC1):c.2140A>C (p.Thr714Pro)
|
rs1987295113
|
|
NM_025099.6(CTC1):c.2147A>G (p.Gln716Arg)
|
|
|
NM_025099.6(CTC1):c.2152G>C (p.Asp718His)
|
rs1458344790
|
|
NM_025099.6(CTC1):c.2161G>A (p.Gly721Ser)
|
rs771821232
|
|
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser)
|
rs770505786
|
|
NM_025099.6(CTC1):c.2202G>C (p.Leu734Phe)
|
|
|
NM_025099.6(CTC1):c.2210A>G (p.His737Arg)
|
rs537646611
|
|
NM_025099.6(CTC1):c.222G>C (p.Lys74Asn)
|
|
|
NM_025099.6(CTC1):c.2242G>T (p.Val748Phe)
|
|
|
NM_025099.6(CTC1):c.2258G>A (p.Ser753Asn)
|
rs1987279014
|
|
NM_025099.6(CTC1):c.2268G>T (p.Val756=)
|
|
|
NM_025099.6(CTC1):c.226C>A (p.His76Asn)
|
|
|
NM_025099.6(CTC1):c.2276C>T (p.Pro759Leu)
|
rs2151509364
|
|
NM_025099.6(CTC1):c.228C>A (p.His76Gln)
|
rs531109382
|
|
NM_025099.6(CTC1):c.2294T>C (p.Val765Ala)
|
rs2151509260
|
|
NM_025099.6(CTC1):c.22G>C (p.Val8Leu)
|
rs1233799443
|
|
NM_025099.6(CTC1):c.2305T>C (p.Trp769Arg)
|
|
|
NM_025099.6(CTC1):c.2327A>G (p.Lys776Arg)
|
|
|
NM_025099.6(CTC1):c.2350C>T (p.Pro784Ser)
|
|
|
NM_025099.6(CTC1):c.2375A>G (p.Asn792Ser)
|
rs1245008176
|
|
NM_025099.6(CTC1):c.2379T>A (p.Asp793Glu)
|
|
|
NM_025099.6(CTC1):c.2383A>G (p.Lys795Glu)
|
|
|
NM_025099.6(CTC1):c.2386-18T>G
|
|
|
NM_025099.6(CTC1):c.2395A>G (p.Ile799Val)
|
rs2151508501
|
|
NM_025099.6(CTC1):c.2399T>C (p.Phe800Ser)
|
rs752957819
|
|
NM_025099.6(CTC1):c.2436C>G (p.His812Gln)
|
|
|
NM_025099.6(CTC1):c.244T>C (p.Cys82Arg)
|
rs1987946472
|
|
NM_025099.6(CTC1):c.2453G>T (p.Arg818Leu)
|
rs772328631
|
|
NM_025099.6(CTC1):c.2459T>C (p.Ile820Thr)
|
|
|
NM_025099.6(CTC1):c.2471C>T (p.Pro824Leu)
|
|
|
NM_025099.6(CTC1):c.2473G>A (p.Ala825Thr)
|
rs915406565
|
|
NM_025099.6(CTC1):c.2473G>C (p.Ala825Pro)
|
|
|
NM_025099.6(CTC1):c.2475+3G>A
|
rs1987244042
|
|
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn)
|
rs78870822
|
|
NM_025099.6(CTC1):c.2497G>A (p.Asp833Asn)
|
rs754510180
|
|
NM_025099.6(CTC1):c.2497G>T (p.Asp833Tyr)
|
|
|
NM_025099.6(CTC1):c.2507C>G (p.Ser836Cys)
|
rs1987214622
|
|
NM_025099.6(CTC1):c.2510G>A (p.Cys837Tyr)
|
rs377390001
|
|
NM_025099.6(CTC1):c.2512A>G (p.Ile838Val)
|
|
|
NM_025099.6(CTC1):c.2519G>A (p.Arg840Gln)
|
|
|
NM_025099.6(CTC1):c.2521C>T (p.Arg841Cys)
|
rs747249710
|
|
NM_025099.6(CTC1):c.2524C>T (p.Pro842Ser)
|
rs1354260622
|
|
NM_025099.6(CTC1):c.2525C>G (p.Pro842Arg)
|
|
|
NM_025099.6(CTC1):c.2537C>T (p.Ala846Val)
|
|
|
NM_025099.6(CTC1):c.2546C>T (p.Ala849Val)
|
rs1987209622
|
|
NM_025099.6(CTC1):c.2570A>G (p.Asn857Ser)
|
|
|
NM_025099.6(CTC1):c.2602A>G (p.Ile868Val)
|
rs1555532937
|
|
NM_025099.6(CTC1):c.2627A>T (p.Lys876Met)
|
|
|
NM_025099.6(CTC1):c.263G>A (p.Ser88Asn)
|
rs1987944023
|
|
NM_025099.6(CTC1):c.2651C>T (p.Thr884Ile)
|
|
|
NM_025099.6(CTC1):c.2653G>T (p.Asp885Tyr)
|
rs370102181
|
|
NM_025099.6(CTC1):c.2668A>G (p.Asn890Asp)
|
|
|
NM_025099.6(CTC1):c.2670-3C>G
|
rs765650487
|
|
NM_025099.6(CTC1):c.2670-3C>T
|
rs765650487
|
|
NM_025099.6(CTC1):c.2678A>G (p.Asp893Gly)
|
|
|
NM_025099.6(CTC1):c.2681C>A (p.Ser894Tyr)
|
rs754401174
|
|
NM_025099.6(CTC1):c.2699C>T (p.Ala900Val)
|
rs1408453833
|
|
NM_025099.6(CTC1):c.269G>A (p.Ser90Asn)
|
|
|
NM_025099.6(CTC1):c.26C>A (p.Pro9His)
|
rs377386669
|
|
NM_025099.6(CTC1):c.26C>T (p.Pro9Leu)
|
rs377386669
|
|
NM_025099.6(CTC1):c.2704A>G (p.Ile902Val)
|
rs2151504713
|
|
NM_025099.6(CTC1):c.2714G>A (p.Arg905Gln)
|
|
|
NM_025099.6(CTC1):c.2727A>C (p.Glu909Asp)
|
|
|
NM_025099.6(CTC1):c.2738C>T (p.Ala913Val)
|
rs771428933
|
|
NM_025099.6(CTC1):c.2743C>T (p.Leu915Phe)
|
rs778391511
|
|
NM_025099.6(CTC1):c.2749A>G (p.Met917Val)
|
|
|
NM_025099.6(CTC1):c.2750T>G (p.Met917Arg)
|
rs1987130951
|
|
NM_025099.6(CTC1):c.2758+4A>G
|
rs754205135
|
|
NM_025099.6(CTC1):c.2759-7T>G
|
|
|
NM_025099.6(CTC1):c.2763C>G (p.Asn921Lys)
|
|
|
NM_025099.6(CTC1):c.2775G>T (p.Met925Ile)
|
rs2151504059
|
|
NM_025099.6(CTC1):c.2777G>A (p.Arg926Lys)
|
|
|
NM_025099.6(CTC1):c.2783G>A (p.Cys928Tyr)
|
rs373660155
|
|
NM_025099.6(CTC1):c.278A>G (p.Gln93Arg)
|
|
|
NM_025099.6(CTC1):c.2809A>T (p.Thr937Ser)
|
rs1370736551
|
|
NM_025099.6(CTC1):c.2819G>A (p.Cys940Tyr)
|
|
|
NM_025099.6(CTC1):c.2830C>T (p.Pro944Ser)
|
rs1299588337
|
|
NM_025099.6(CTC1):c.2835C>A (p.His945Gln)
|
|
|
NM_025099.6(CTC1):c.2865G>T (p.Leu955Phe)
|
|
|
NM_025099.6(CTC1):c.2866C>T (p.Pro956Ser)
|
rs1987108095
|
|
NM_025099.6(CTC1):c.2867C>T (p.Pro956Leu)
|
rs1345126351
|
|
NM_025099.6(CTC1):c.286G>A (p.Ala96Thr)
|
rs751570124
|
|
NM_025099.6(CTC1):c.2881C>G (p.Leu961Val)
|
rs1567600596
|
|
NM_025099.6(CTC1):c.2882T>C (p.Leu961Pro)
|
|
|
NM_025099.6(CTC1):c.2888C>G (p.Pro963Arg)
|
|
|
NM_025099.6(CTC1):c.2893G>A (p.Ala965Thr)
|
rs1987104593
|
|
NM_025099.6(CTC1):c.2894C>T (p.Ala965Val)
|
rs1987104355
|
|
NM_025099.6(CTC1):c.2897G>C (p.Arg966Pro)
|
rs759485791
|
|
NM_025099.6(CTC1):c.2908A>G (p.Ser970Gly)
|
|
|
NM_025099.6(CTC1):c.2917G>A (p.Glu973Lys)
|
|
|
NM_025099.6(CTC1):c.2933+3G>A
|
rs878855127
|
|
NM_025099.6(CTC1):c.2934-3C>G
|
|
|
NM_025099.6(CTC1):c.29C>G (p.Ser10Cys)
|
rs745686555
|
|
NM_025099.6(CTC1):c.29C>T (p.Ser10Phe)
|
rs745686555
|
|
NM_025099.6(CTC1):c.3004A>G (p.Thr1002Ala)
|
rs1987062062
|
|
NM_025099.6(CTC1):c.3011+3C>T
|
rs1316252024
|
|
NM_025099.6(CTC1):c.3012-3T>C
|
|
|
NM_025099.6(CTC1):c.3013A>T (p.Ile1005Phe)
|
|
|
NM_025099.6(CTC1):c.3023C>G (p.Pro1008Arg)
|
|
|
NM_025099.6(CTC1):c.3028A>C (p.Ile1010Leu)
|
|
|
NM_025099.6(CTC1):c.3031T>C (p.Tyr1011His)
|
|
|
NM_025099.6(CTC1):c.3047T>A (p.Leu1016Gln)
|
rs2151500704
|
|
NM_025099.6(CTC1):c.3059A>C (p.Gln1020Pro)
|
rs1987017237
|
|
NM_025099.6(CTC1):c.3093C>T (p.Ile1031=)
|
|
|
NM_025099.6(CTC1):c.3110T>C (p.Leu1037Pro)
|
|
|
NM_025099.6(CTC1):c.3113A>C (p.Gln1038Pro)
|
rs1486092046
|
|
NM_025099.6(CTC1):c.311A>C (p.Asn104Thr)
|
|
|
NM_025099.6(CTC1):c.312C>A (p.Asn104Lys)
|
rs1987939410
|
|
NM_025099.6(CTC1):c.3131C>T (p.Ala1044Val)
|
rs1987009040
|
|
NM_025099.6(CTC1):c.313C>T (p.Pro105Ser)
|
|
|
NM_025099.6(CTC1):c.3152G>A (p.Arg1051Gln)
|
|
|
NM_025099.6(CTC1):c.3156+6G>A
|
rs1597374105
|
|
NM_025099.6(CTC1):c.3157-19A>G
|
|
|
NM_025099.6(CTC1):c.3176G>A (p.Gly1059Asp)
|
rs957741030
|
|
NM_025099.6(CTC1):c.3195_3203dup (p.Ala1067_Ile1068insMetThrAla)
|
|
|
NM_025099.6(CTC1):c.3197C>G (p.Thr1066Arg)
|
rs767106179
|
|
NM_025099.6(CTC1):c.320C>G (p.Pro107Arg)
|
rs760362880
|
|
NM_025099.6(CTC1):c.320C>T (p.Pro107Leu)
|
rs760362880
|
|
NM_025099.6(CTC1):c.3214A>G (p.Ile1072Val)
|
|
|
NM_025099.6(CTC1):c.323G>A (p.Arg108Gln)
|
rs368398609
|
|
NM_025099.6(CTC1):c.3251C>T (p.Ala1084Val)
|
rs2151499036
|
|
NM_025099.6(CTC1):c.3253G>A (p.Val1085Met)
|
rs1209523245
|
|
NM_025099.6(CTC1):c.3253G>C (p.Val1085Leu)
|
rs1209523245
|
|
NM_025099.6(CTC1):c.3266G>A (p.Arg1089Lys)
|
|
|
NM_025099.6(CTC1):c.3271C>T (p.His1091Tyr)
|
rs1358175667
|
|
NM_025099.6(CTC1):c.3272A>G (p.His1091Arg)
|
rs1597373397
|
|
NM_025099.6(CTC1):c.3275A>G (p.His1092Arg)
|
rs1986957283
|
|
NM_025099.6(CTC1):c.3278T>C (p.Val1093Ala)
|
rs2151498924
|
|
NM_025099.6(CTC1):c.3280G>A (p.Ala1094Thr)
|
rs773036519
|
|
NM_025099.6(CTC1):c.3299G>C (p.Cys1100Ser)
|
rs2151498826
|
|
NM_025099.6(CTC1):c.32C>A (p.Ser11Tyr)
|
rs1988915221
|
|
NM_025099.6(CTC1):c.33+4A>G
|
rs1988914364
|
|
NM_025099.6(CTC1):c.33+6T>C
|
|
|
NM_025099.6(CTC1):c.3301C>A (p.Pro1101Thr)
|
rs1597373346
|
|
NM_025099.6(CTC1):c.3302C>T (p.Pro1101Leu)
|
|
|
NM_025099.6(CTC1):c.3331G>A (p.Val1111Ile)
|
|
|
NM_025099.6(CTC1):c.3331G>C (p.Val1111Leu)
|
rs374284337
|
|
NM_025099.6(CTC1):c.3351G>A (p.Val1117=)
|
|
|
NM_025099.6(CTC1):c.3356_3358dup (p.Leu1119dup)
|
rs1986946908
|
|
NM_025099.6(CTC1):c.3367G>A (p.Gly1123Arg)
|
|
|
NM_025099.6(CTC1):c.3371C>T (p.Pro1124Leu)
|
|
|
NM_025099.6(CTC1):c.3377C>T (p.Ala1126Val)
|
|
|
NM_025099.6(CTC1):c.3388-11_3388-9del
|
rs1262324249
|
|
NM_025099.6(CTC1):c.3394G>A (p.Ala1132Thr)
|
rs1986931683
|
|
NM_025099.6(CTC1):c.33C>T (p.Ser11=)
|
rs757066174
|
|
NM_025099.6(CTC1):c.3401T>C (p.Val1134Ala)
|
|
|
NM_025099.6(CTC1):c.3409C>T (p.Pro1137Ser)
|
rs2151498057
|
|
NM_025099.6(CTC1):c.3410C>G (p.Pro1137Arg)
|
|
|
NM_025099.6(CTC1):c.3413T>A (p.Met1138Lys)
|
rs376216450
|
|
NM_025099.6(CTC1):c.3421T>C (p.Phe1141Leu)
|
rs1302492698
|
|
NM_025099.6(CTC1):c.3425_3426delinsAT (p.Leu1142His)
|
rs199473681
|
|
NM_025099.6(CTC1):c.3434T>G (p.Leu1145Arg)
|
|
|
NM_025099.6(CTC1):c.3436T>C (p.Cys1146Arg)
|
|
|
NM_025099.6(CTC1):c.3440C>G (p.Thr1147Ser)
|
rs771446414
|
|
NM_025099.6(CTC1):c.3454C>G (p.Leu1152Val)
|
|
|
NM_025099.6(CTC1):c.3456_3462del (p.Arg1153fs)
|
rs1986920257
|
|
NM_025099.6(CTC1):c.3457C>T (p.Arg1153Cys)
|
|
|
NM_025099.6(CTC1):c.3458G>C (p.Arg1153Pro)
|
rs748674791
|
|
NM_025099.6(CTC1):c.3472T>C (p.Ser1158Pro)
|
|
|
NM_025099.6(CTC1):c.3476T>C (p.Phe1159Ser)
|
|
|
NM_025099.6(CTC1):c.3490A>G (p.Lys1164Glu)
|
rs1986917089
|
|
NM_025099.6(CTC1):c.3491A>C (p.Lys1164Thr)
|
|
|
NM_025099.6(CTC1):c.3496T>A (p.Ser1166Thr)
|
|
|
NM_025099.6(CTC1):c.3497C>T (p.Ser1166Leu)
|
|
|
NM_025099.6(CTC1):c.3506T>C (p.Val1169Ala)
|
|
|
NM_025099.6(CTC1):c.3514+4A>G
|
|
|
NM_025099.6(CTC1):c.3515-3C>T
|
rs776835897
|
|
NM_025099.6(CTC1):c.3521C>T (p.Pro1174Leu)
|
|
|
NM_025099.6(CTC1):c.3529C>G (p.Gln1177Glu)
|
rs1349506921
|
|
NM_025099.6(CTC1):c.3533G>A (p.Arg1178Gln)
|
rs764813118
|
|
NM_025099.6(CTC1):c.3533G>C (p.Arg1178Pro)
|
rs764813118
|
|
NM_025099.6(CTC1):c.3567C>G (p.His1189Gln)
|
rs374942931
|
|
NM_025099.6(CTC1):c.3577A>G (p.Arg1193Gly)
|
rs2151496778
|
|
NM_025099.6(CTC1):c.3583C>G (p.Arg1195Gly)
|
rs199473682
|
|
NM_025099.6(CTC1):c.3584G>A (p.Arg1195Gln)
|
rs1206095374
|
|
NM_025099.6(CTC1):c.3585del (p.Leu1196fs)
|
|
|
NM_025099.6(CTC1):c.3598T>A (p.Ser1200Thr)
|
|
|
NM_025099.6(CTC1):c.3601A>C (p.Ile1201Leu)
|
|
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NM_025099.6(CTC1):c.3628C>G (p.Leu1210Val)
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NM_025099.6(CTC1):c.3638T>C (p.Leu1213Pro)
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NM_025099.6(CTC1):c.3649T>C (p.Cys1217Arg)
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rs1432386993
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NM_025099.6(CTC1):c.383G>T (p.Cys128Phe)
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rs1339616084
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NM_025099.6(CTC1):c.398T>C (p.Leu133Pro)
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NM_025099.6(CTC1):c.400T>C (p.Tyr134His)
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NM_025099.6(CTC1):c.401A>G (p.Tyr134Cys)
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rs2151531350
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NM_025099.6(CTC1):c.40G>A (p.Ala14Thr)
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NM_025099.6(CTC1):c.411T>G (p.Asp137Glu)
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NM_025099.6(CTC1):c.412A>G (p.Asn138Asp)
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NM_025099.6(CTC1):c.413A>G (p.Asn138Ser)
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NM_025099.6(CTC1):c.416C>G (p.Thr139Ser)
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rs2151531295
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NM_025099.6(CTC1):c.429C>G (p.Ser143Arg)
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NM_025099.6(CTC1):c.435+3G>T
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rs6503093
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NM_025099.6(CTC1):c.436-10T>A
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NM_025099.6(CTC1):c.439A>G (p.Ile147Val)
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NM_025099.6(CTC1):c.440T>C (p.Ile147Thr)
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NM_025099.6(CTC1):c.450C>G (p.Asp150Glu)
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rs2151530771
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NM_025099.6(CTC1):c.455C>G (p.Ser152Cys)
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rs1987914806
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NM_025099.6(CTC1):c.455C>T (p.Ser152Phe)
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rs1987914806
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NM_025099.6(CTC1):c.463G>A (p.Gly155Ser)
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NM_025099.6(CTC1):c.466C>G (p.His156Asp)
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rs1987914284
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NM_025099.6(CTC1):c.467A>G (p.His156Arg)
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NM_025099.6(CTC1):c.470T>C (p.Leu157Pro)
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rs747551190
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NM_025099.6(CTC1):c.480C>G (p.Phe160Leu)
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NM_025099.6(CTC1):c.502C>T (p.Pro168Ser)
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rs1385087993
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NM_025099.6(CTC1):c.503C>A (p.Pro168His)
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rs1567613854
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NM_025099.6(CTC1):c.52G>C (p.Asp18His)
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rs1988413224
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NM_025099.6(CTC1):c.534C>G (p.His178Gln)
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rs1251648065
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NM_025099.6(CTC1):c.53_55dup (p.Asp18_Ala19insAsp)
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NM_025099.6(CTC1):c.547G>A (p.Asp183Asn)
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rs751596403
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NM_025099.6(CTC1):c.556G>A (p.Val186Met)
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rs185346402
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NM_025099.6(CTC1):c.556G>C (p.Val186Leu)
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rs185346402
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NM_025099.6(CTC1):c.574A>G (p.Thr192Ala)
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NM_025099.6(CTC1):c.575C>G (p.Thr192Ser)
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NM_025099.6(CTC1):c.583C>T (p.Pro195Ser)
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rs2151530350
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NM_025099.6(CTC1):c.596C>G (p.Thr199Arg)
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rs747323535
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NM_025099.6(CTC1):c.622A>G (p.Ser208Gly)
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NM_025099.6(CTC1):c.623G>A (p.Ser208Asn)
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NM_025099.6(CTC1):c.647+6T>C
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NM_025099.6(CTC1):c.647G>A (p.Arg216Lys)
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NM_025099.6(CTC1):c.656T>C (p.Leu219Pro)
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rs750372074
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NM_025099.6(CTC1):c.662G>A (p.Gly221Asp)
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rs1987831900
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NM_025099.6(CTC1):c.66C>T (p.Phe22=)
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NM_025099.6(CTC1):c.671G>A (p.Arg224Gln)
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NM_025099.6(CTC1):c.67A>T (p.Ile23Phe)
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NM_025099.6(CTC1):c.702T>G (p.Ser234Arg)
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NM_025099.6(CTC1):c.71A>G (p.Gln24Arg)
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NM_025099.6(CTC1):c.736A>G (p.Ile246Val)
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NM_025099.6(CTC1):c.737T>C (p.Ile246Thr)
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rs2151527713
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NM_025099.6(CTC1):c.743C>T (p.Ser248Phe)
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NM_025099.6(CTC1):c.745C>G (p.Leu249Val)
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rs1987824590
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NM_025099.6(CTC1):c.745C>T (p.Leu249Phe)
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rs1987824590
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NM_025099.6(CTC1):c.751A>G (p.Arg251Gly)
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rs1987824097
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NM_025099.6(CTC1):c.754T>G (p.Ser252Ala)
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NM_025099.6(CTC1):c.787G>A (p.Val263Met)
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NM_025099.6(CTC1):c.787G>C (p.Val263Leu)
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rs1010062693
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NM_025099.6(CTC1):c.799G>A (p.Ala267Thr)
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rs1315598261
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NM_025099.6(CTC1):c.7G>T (p.Ala3Ser)
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NM_025099.6(CTC1):c.808G>T (p.Val270Leu)
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NM_025099.6(CTC1):c.811T>C (p.Trp271Arg)
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rs1313170347
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NM_025099.6(CTC1):c.813G>T (p.Trp271Cys)
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NM_025099.6(CTC1):c.826C>T (p.Arg276Trp)
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rs267605102
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NM_025099.6(CTC1):c.833G>T (p.Gly278Val)
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rs768853291
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NM_025099.6(CTC1):c.874C>G (p.Arg292Gly)
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rs1013688033
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NM_025099.6(CTC1):c.875G>A (p.Arg292His)
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NM_025099.6(CTC1):c.884_889del (p.Arg295_Gln296del)
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rs2151523720
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NM_025099.6(CTC1):c.892G>T (p.Val298Phe)
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rs2151523686
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NM_025099.6(CTC1):c.8C>T (p.Ala3Val)
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rs923853643
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NM_025099.6(CTC1):c.926T>G (p.Leu309Arg)
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rs1555534628
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NM_025099.6(CTC1):c.934C>T (p.Pro312Ser)
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|
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NM_025099.6(CTC1):c.951_956del (p.318LE[2])
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rs766700799
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NM_025099.6(CTC1):c.955G>A (p.Glu319Lys)
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NM_025099.6(CTC1):c.955G>C (p.Glu319Gln)
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NM_025099.6(CTC1):c.958_969del (p.318LE[1])
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rs763129063
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NM_025099.6(CTC1):c.973C>T (p.Pro325Ser)
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|
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NM_025099.6(CTC1):c.990_991delinsTA (p.Pro331Thr)
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rs2151523180
|
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