NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr)
|
rs886038435
|
0.07143
|
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys)
|
rs202017360
|
0.00261
|
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His)
|
rs576918934
|
0.00147
|
NM_001164508.2(NEB):c.13078C>G (p.Leu4360Val)
|
rs761799512
|
0.00107
|
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)
|
rs115986826
|
0.00095
|
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr)
|
rs199847072
|
0.00049
|
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=)
|
rs368625295
|
0.00048
|
NM_001164508.2(NEB):c.12905A>T (p.Asn4302Ile)
|
rs886038429
|
0.00046
|
NM_001164508.2(NEB):c.23557-3C>G
|
rs374499643
|
0.00044
|
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn)
|
rs200729207
|
0.00043
|
NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe)
|
rs373391330
|
0.00042
|
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His)
|
rs772352938
|
0.00038
|
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val)
|
rs532986882
|
0.00036
|
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His)
|
rs368915047
|
0.00035
|
NM_001101362.3(KBTBD13):c.205C>T (p.Arg69Trp)
|
rs530722554
|
0.00034
|
NM_001164508.2(NEB):c.6704A>C (p.His2235Pro)
|
rs372800812
|
0.00031
|
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly)
|
rs375894183
|
0.00026
|
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly)
|
rs200056050
|
0.00025
|
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn)
|
rs147168910
|
0.00022
|
NM_001164508.2(NEB):c.9178A>G (p.Met3060Val)
|
rs538524863
|
0.00021
|
NM_006063.3(KLHL41):c.206C>T (p.Ala69Val)
|
rs151212497
|
0.00021
|
NM_001164508.2(NEB):c.1569C>T (p.Asp523=)
|
rs200758495
|
0.00020
|
NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp)
|
rs371490023
|
0.00019
|
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys)
|
rs201596787
|
0.00018
|
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser)
|
rs543100735
|
0.00018
|
NM_001164508.2(NEB):c.7778T>C (p.Phe2593Ser)
|
rs370615288
|
0.00017
|
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe)
|
rs142817656
|
0.00016
|
NM_001101362.3(KBTBD13):c.272C>A (p.Pro91Gln)
|
rs773454367
|
0.00015
|
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln)
|
rs568814745
|
0.00014
|
NM_006063.3(KLHL41):c.642C>G (p.Asn214Lys)
|
rs372183592
|
0.00014
|
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg)
|
rs371568550
|
0.00013
|
NM_001164508.2(NEB):c.2639G>A (p.Arg880His)
|
rs202026890
|
0.00013
|
NM_001101362.3(KBTBD13):c.382T>C (p.Phe128Leu)
|
rs572875121
|
0.00012
|
NM_001164508.2(NEB):c.10348C>T (p.Arg3450Cys)
|
rs200462308
|
0.00012
|
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val)
|
rs149384863
|
0.00012
|
NM_001164508.2(NEB):c.25055C>T (p.Thr8352Ile)
|
rs372762302
|
0.00012
|
NM_001164508.2(NEB):c.8890C>T (p.Arg2964Cys)
|
rs368965372
|
0.00012
|
NM_001101362.3(KBTBD13):c.2T>G (p.Met1Arg)
|
rs374196960
|
0.00011
|
NM_001164508.2(NEB):c.12247C>T (p.Arg4083Cys)
|
rs368383341
|
0.00011
|
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu)
|
rs373829936
|
0.00011
|
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn)
|
rs1057522021
|
0.00011
|
NM_001164508.2(NEB):c.6807+5A>G
|
rs746481799
|
0.00011
|
NM_001164508.2(NEB):c.8647G>A (p.Val2883Ile)
|
rs369283016
|
0.00011
|
NM_001164508.2(NEB):c.9620G>A (p.Arg3207His)
|
rs111841612
|
0.00011
|
NM_001164508.2(NEB):c.9854G>A (p.Arg3285His)
|
rs376932516
|
0.00011
|
NM_001101362.3(KBTBD13):c.359del (p.Asp120fs)
|
rs903604256
|
0.00010
|
NM_001164508.2(NEB):c.10141G>A (p.Asp3381Asn)
|
rs374760449
|
0.00010
|
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr)
|
rs376182104
|
0.00010
|
NM_001164508.2(NEB):c.24873G>A (p.Thr8291=)
|
rs779321695
|
0.00010
|
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val)
|
rs372217127
|
0.00010
|
NM_001164508.2(NEB):c.2630A>G (p.Gln877Arg)
|
rs373892420
|
0.00010
|
NM_001164508.2(NEB):c.9271G>A (p.Asp3091Asn)
|
rs764110936
|
0.00010
|
NM_001164508.2(NEB):c.9578A>G (p.Glu3193Gly)
|
rs369985728
|
0.00010
|
NM_001164508.2(NEB):c.10026G>C (p.Lys3342Asn)
|
rs117636679
|
0.00009
|
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys)
|
rs539139958
|
0.00009
|
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156
|
0.00009
|
NM_001164508.2(NEB):c.1152+5G>A
|
rs111404077
|
0.00009
|
NM_001164508.2(NEB):c.11540C>A (p.Thr3847Asn)
|
rs766876980
|
0.00009
|
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly)
|
rs1475846023
|
0.00009
|
NM_001164508.2(NEB):c.23017-3T>C
|
rs111314898
|
0.00009
|
NM_001164508.2(NEB):c.9878G>C (p.Gly3293Ala)
|
rs199890164
|
0.00009
|
NM_006063.3(KLHL41):c.1711T>C (p.Tyr571His)
|
rs758684130
|
0.00009
|
NM_001164508.2(NEB):c.10196T>C (p.Ile3399Thr)
|
rs377734027
|
0.00008
|
NM_001164508.2(NEB):c.12511G>A (p.Ala4171Thr)
|
rs1420479305
|
0.00008
|
NM_001164508.2(NEB):c.8356A>G (p.Arg2786Gly)
|
rs201747395
|
0.00008
|
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn)
|
rs375811851
|
0.00008
|
NM_001101362.3(KBTBD13):c.833A>T (p.Tyr278Phe)
|
rs748032183
|
0.00007
|
NM_001164508.2(NEB):c.10005G>A (p.Met3335Ile)
|
rs375830667
|
0.00007
|
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys)
|
rs547231033
|
0.00007
|
NM_001164508.2(NEB):c.23127+4G>A
|
rs764457781
|
0.00007
|
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr)
|
rs776759120
|
0.00007
|
NM_001101362.3(KBTBD13):c.1107C>G (p.Ile369Met)
|
rs757616268
|
0.00006
|
NM_001101362.3(KBTBD13):c.305C>A (p.Thr102Lys)
|
rs1321779623
|
0.00006
|
NM_001164508.2(NEB):c.10299C>G (p.Asp3433Glu)
|
rs180847025
|
0.00006
|
NM_001164508.2(NEB):c.10419G>A (p.Met3473Ile)
|
rs368842783
|
0.00006
|
NM_001164508.2(NEB):c.11221G>A (p.Gly3741Ser)
|
rs375657086
|
0.00006
|
NM_001164508.2(NEB):c.1152C>T (p.Asp384=)
|
rs767328072
|
0.00006
|
NM_001164508.2(NEB):c.2354A>G (p.His785Arg)
|
rs370296542
|
0.00006
|
NM_001164508.2(NEB):c.2415T>C (p.Asp805=)
|
rs566989836
|
0.00006
|
NM_001164508.2(NEB):c.2515A>G (p.Thr839Ala)
|
rs779630318
|
0.00006
|
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp)
|
rs368232288
|
0.00006
|
NM_001164508.2(NEB):c.78+6G>A
|
rs376085885
|
0.00006
|
NM_001164508.2(NEB):c.7931G>A (p.Arg2644Gln)
|
rs557950249
|
0.00006
|
NM_001164508.2(NEB):c.9529C>T (p.Arg3177Cys)
|
rs758363933
|
0.00006
|
NM_001164508.2(NEB):c.9883C>T (p.Arg3295Trp)
|
rs750990726
|
0.00006
|
NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly)
|
rs145810515
|
0.00006
|
NM_006063.3(KLHL41):c.1757G>A (p.Arg586His)
|
rs762482219
|
0.00006
|
NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys)
|
rs547547946
|
0.00006
|
NM_001101362.3(KBTBD13):c.1333C>T (p.Pro445Ser)
|
rs778885479
|
0.00005
|
NM_001101362.3(KBTBD13):c.812C>T (p.Pro271Leu)
|
rs944158562
|
0.00005
|
NM_001164508.2(NEB):c.10075G>A (p.Glu3359Lys)
|
rs374359052
|
0.00005
|
NM_001164508.2(NEB):c.10675C>T (p.Arg3559Cys)
|
rs751938843
|
0.00005
|
NM_001164508.2(NEB):c.11612A>G (p.Lys3871Arg)
|
rs761955993
|
0.00005
|
NM_001164508.2(NEB):c.12596C>T (p.Pro4199Leu)
|
rs1365594299
|
0.00005
|
NM_001164508.2(NEB):c.12769C>T (p.Arg4257Cys)
|
rs1376744526
|
0.00005
|
NM_001164508.2(NEB):c.13059+4C>T
|
rs1253831275
|
0.00005
|
NM_001164508.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle)
|
rs765184893
|
0.00005
|
NM_001164508.2(NEB):c.18694-3T>C
|
rs370200484
|
0.00005
|
NM_001164508.2(NEB):c.4612G>C (p.Ala1538Pro)
|
rs781263453
|
0.00005
|
NM_001164508.2(NEB):c.6488A>G (p.Gln2163Arg)
|
rs200813844
|
0.00005
|
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn)
|
rs781745506
|
0.00005
|
NM_001164508.2(NEB):c.9388C>T (p.Arg3130Trp)
|
rs779778326
|
0.00005
|
NM_001101362.3(KBTBD13):c.483C>A (p.Ser161Arg)
|
rs1464339145
|
0.00004
|
NM_001164508.2(NEB):c.10146C>G (p.Asn3382Lys)
|
rs374471394
|
0.00004
|
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu)
|
rs753198978
|
0.00004
|
NM_001164508.2(NEB):c.12062T>C (p.Ile4021Thr)
|
rs370068571
|
0.00004
|
NM_001164508.2(NEB):c.12790A>G (p.Met4264Val)
|
rs1363996930
|
0.00004
|
NM_001164508.2(NEB):c.16790C>G (p.Ala5597Gly)
|
rs777969701
|
0.00004
|
NM_001164508.2(NEB):c.20577+6G>A
|
rs775513148
|
0.00004
|
NM_001164508.2(NEB):c.20945A>T (p.Lys6982Ile)
|
rs776012642
|
0.00004
|
NM_001164508.2(NEB):c.21892A>T (p.Thr7298Ser)
|
rs531618541
|
0.00004
|
NM_001164508.2(NEB):c.22264C>A (p.Gln7422Lys)
|
rs369642754
|
0.00004
|
NM_001164508.2(NEB):c.23346+5G>A
|
rs778663301
|
0.00004
|
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu)
|
rs541908352
|
0.00004
|
NM_001164508.2(NEB):c.24842G>A (p.Arg8281Gln)
|
rs770024830
|
0.00004
|
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His)
|
rs778972474
|
0.00004
|
NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr)
|
rs563173814
|
0.00004
|
NM_001164508.2(NEB):c.4127A>G (p.Asn1376Ser)
|
rs1309733626
|
0.00004
|
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val)
|
rs1000847538
|
0.00004
|
NM_001164508.2(NEB):c.6075+3A>C
|
rs986325764
|
0.00004
|
NM_001164508.2(NEB):c.7864G>A (p.Val2622Met)
|
rs905660353
|
0.00004
|
NM_001164508.2(NEB):c.7906G>A (p.Asp2636Asn)
|
rs760643814
|
0.00004
|
NM_001164508.2(NEB):c.8104C>T (p.Leu2702Phe)
|
rs372248515
|
0.00004
|
NM_001164508.2(NEB):c.8265+3A>T
|
rs374475460
|
0.00004
|
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr)
|
rs990382620
|
0.00004
|
NM_001164508.2(NEB):c.8582T>C (p.Leu2861Ser)
|
rs529735446
|
0.00004
|
NM_001164508.2(NEB):c.8635G>A (p.Asp2879Asn)
|
rs767512294
|
0.00004
|
NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn)
|
rs779416595
|
0.00004
|
NM_001164508.2(NEB):c.9112A>G (p.Lys3038Glu)
|
rs780293943
|
0.00004
|
NM_006063.3(KLHL41):c.1482A>T (p.Lys494Asn)
|
rs778531652
|
0.00004
|
NM_006063.3(KLHL41):c.208A>G (p.Lys70Glu)
|
rs766504219
|
0.00004
|
NM_006063.3(KLHL41):c.833T>C (p.Val278Ala)
|
rs751923233
|
0.00004
|
NM_001101362.3(KBTBD13):c.1346G>T (p.Gly449Val)
|
rs1216666979
|
0.00003
|
NM_001101362.3(KBTBD13):c.240G>T (p.Gln80His)
|
rs1040368554
|
0.00003
|
NM_001101362.3(KBTBD13):c.358G>A (p.Asp120Asn)
|
rs1403660333
|
0.00003
|
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn)
|
rs183321773
|
0.00003
|
NM_001164508.2(NEB):c.10127A>G (p.Tyr3376Cys)
|
rs754298562
|
0.00003
|
NM_001164508.2(NEB):c.10231G>A (p.Ala3411Thr)
|
rs727504034
|
0.00003
|
NM_001164508.2(NEB):c.10676G>A (p.Arg3559His)
|
rs376558062
|
0.00003
|
NM_001164508.2(NEB):c.10847G>A (p.Arg3616Gln)
|
rs774454536
|
0.00003
|
NM_001164508.2(NEB):c.10860C>A (p.Asp3620Glu)
|
rs748243107
|
0.00003
|
NM_001164508.2(NEB):c.10872C>T (p.Asp3624=)
|
rs781328083
|
0.00003
|
NM_001164508.2(NEB):c.10913G>T (p.Gly3638Val)
|
rs370161504
|
0.00003
|
NM_001164508.2(NEB):c.11072A>G (p.Asn3691Ser)
|
rs1184035076
|
0.00003
|
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu)
|
rs765379397
|
0.00003
|
NM_001164508.2(NEB):c.11570A>G (p.Gln3857Arg)
|
rs760525587
|
0.00003
|
NM_001164508.2(NEB):c.11581G>T (p.Ala3861Ser)
|
rs750748717
|
0.00003
|
NM_001164508.2(NEB):c.12010G>A (p.Ala4004Thr)
|
rs750705899
|
0.00003
|
NM_001164508.2(NEB):c.12200T>C (p.Ile4067Thr)
|
rs746008098
|
0.00003
|
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His)
|
rs376019368
|
0.00003
|
NM_001164508.2(NEB):c.12747+4C>T
|
rs1436792470
|
0.00003
|
NM_001164508.2(NEB):c.17101A>G (p.Arg5701Gly)
|
rs1332674015
|
0.00003
|
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser)
|
rs758068422
|
0.00003
|
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala)
|
rs762095177
|
0.00003
|
NM_001164508.2(NEB):c.1896T>A (p.Asp632Glu)
|
rs978952705
|
0.00003
|
NM_001164508.2(NEB):c.19101+4C>T
|
rs778716460
|
0.00003
|
NM_001164508.2(NEB):c.19625A>G (p.Asp6542Gly)
|
rs753830499
|
0.00003
|
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val)
|
rs374581669
|
0.00003
|
NM_001164508.2(NEB):c.23630C>T (p.Thr7877Ile)
|
rs772064998
|
0.00003
|
NM_001164508.2(NEB):c.24275A>G (p.Lys8092Arg)
|
rs200761405
|
0.00003
|
NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu)
|
rs759261311
|
0.00003
|
NM_001164508.2(NEB):c.24350C>T (p.Pro8117Leu)
|
rs541150975
|
0.00003
|
NM_001164508.2(NEB):c.24457G>A (p.Val8153Ile)
|
rs1482662133
|
0.00003
|
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys)
|
rs200664592
|
0.00003
|
NM_001164508.2(NEB):c.24812C>T (p.Ala8271Val)
|
rs749977606
|
0.00003
|
NM_001164508.2(NEB):c.25445C>G (p.Ala8482Gly)
|
rs774603877
|
0.00003
|
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr)
|
rs775823432
|
0.00003
|
NM_001164508.2(NEB):c.3567T>A (p.Asp1189Glu)
|
rs781515499
|
0.00003
|
NM_001164508.2(NEB):c.3658G>A (p.Gly1220Ser)
|
rs1320792762
|
0.00003
|
NM_001164508.2(NEB):c.403G>A (p.Val135Ile)
|
rs373729655
|
0.00003
|
NM_001164508.2(NEB):c.5671G>A (p.Ala1891Thr)
|
rs1553484895
|
0.00003
|
NM_001164508.2(NEB):c.6415C>G (p.His2139Asp)
|
rs886044641
|
0.00003
|
NM_001164508.2(NEB):c.6495+6G>A
|
rs1022052250
|
0.00003
|
NM_001164508.2(NEB):c.65A>G (p.Glu22Gly)
|
rs1335474782
|
0.00003
|
NM_001164508.2(NEB):c.6631T>C (p.Phe2211Leu)
|
rs369374856
|
0.00003
|
NM_001164508.2(NEB):c.7808C>T (p.Pro2603Leu)
|
rs1259492469
|
0.00003
|
NM_001164508.2(NEB):c.8393A>G (p.Tyr2798Cys)
|
rs750799792
|
0.00003
|
NM_001164508.2(NEB):c.9151G>A (p.Ala3051Thr)
|
rs751613683
|
0.00003
|
NM_001164508.2(NEB):c.9154C>T (p.Arg3052Trp)
|
rs375216659
|
0.00003
|
NM_001164508.2(NEB):c.9366C>A (p.Asp3122Glu)
|
rs1271867113
|
0.00003
|
NM_001164508.2(NEB):c.9473C>G (p.Ser3158Cys)
|
rs377606986
|
0.00003
|
NM_001164508.2(NEB):c.9827G>A (p.Ser3276Asn)
|
rs1168444365
|
0.00003
|
NM_006063.3(KLHL41):c.1081G>C (p.Asp361His)
|
rs150768955
|
0.00003
|
NM_006063.3(KLHL41):c.1448T>C (p.Ile483Thr)
|
rs978825115
|
0.00003
|
NM_006063.3(KLHL41):c.1454G>A (p.Arg485His)
|
rs760007708
|
0.00003
|
NM_006063.3(KLHL41):c.1562A>G (p.Lys521Arg)
|
rs778003504
|
0.00003
|
NM_006063.3(KLHL41):c.443C>T (p.Pro148Leu)
|
rs772160259
|
0.00003
|
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser)
|
rs766934634
|
0.00002
|
NM_001100.4(ACTA1):c.808+6C>A
|
rs200342114
|
0.00002
|
NM_001101362.3(KBTBD13):c.101G>A (p.Gly34Asp)
|
rs544519051
|
0.00002
|
NM_001101362.3(KBTBD13):c.11G>A (p.Gly4Asp)
|
rs1228459718
|
0.00002
|
NM_001101362.3(KBTBD13):c.1337G>C (p.Gly446Ala)
|
rs976528181
|
0.00002
|
NM_001101362.3(KBTBD13):c.412G>A (p.Ala138Thr)
|
rs1338140080
|
0.00002
|
NM_001101362.3(KBTBD13):c.434C>G (p.Ala145Gly)
|
rs1205418680
|
0.00002
|
NM_001101362.3(KBTBD13):c.543C>G (p.Asp181Glu)
|
rs760224608
|
0.00002
|
NM_001101362.3(KBTBD13):c.79G>A (p.Glu27Lys)
|
rs760809346
|
0.00002
|
NM_001101362.3(KBTBD13):c.874C>T (p.Pro292Ser)
|
rs765686080
|
0.00002
|
NM_001101362.3(KBTBD13):c.985G>C (p.Ala329Pro)
|
rs1158844505
|
0.00002
|
NM_001164508.2(NEB):c.10082C>T (p.Thr3361Met)
|
rs745706462
|
0.00002
|
NM_001164508.2(NEB):c.10282T>C (p.Phe3428Leu)
|
rs766193154
|
0.00002
|
NM_001164508.2(NEB):c.10452+5G>A
|
rs370685957
|
0.00002
|
NM_001164508.2(NEB):c.11091A>C (p.Glu3697Asp)
|
rs1470685965
|
0.00002
|
NM_001164508.2(NEB):c.11225A>G (p.Tyr3742Cys)
|
rs752598891
|
0.00002
|
NM_001164508.2(NEB):c.11413A>G (p.Lys3805Glu)
|
rs972557338
|
0.00002
|
NM_001164508.2(NEB):c.11575C>T (p.Arg3859Trp)
|
rs562669490
|
0.00002
|
NM_001164508.2(NEB):c.1213C>A (p.Pro405Thr)
|
rs1008850251
|
0.00002
|
NM_001164508.2(NEB):c.12143A>G (p.Lys4048Arg)
|
rs1284970605
|
0.00002
|
NM_001164508.2(NEB):c.12280G>C (p.Asp4094His)
|
rs748607410
|
0.00002
|
NM_001164508.2(NEB):c.12330+4C>T
|
rs772068098
|
0.00002
|
NM_001164508.2(NEB):c.12976C>T (p.Arg4326Cys)
|
rs1270122330
|
0.00002
|
NM_001164508.2(NEB):c.13018G>A (p.Asp4340Asn)
|
rs1462818722
|
0.00002
|
NM_001164508.2(NEB):c.1504T>C (p.Phe502Leu)
|
rs759653954
|
0.00002
|
NM_001164508.2(NEB):c.16828G>T (p.Val5610Leu)
|
rs759755890
|
0.00002
|
NM_001164508.2(NEB):c.17200T>C (p.Trp5734Arg)
|
rs369065324
|
0.00002
|
NM_001164508.2(NEB):c.17369C>T (p.Thr5790Ile)
|
rs752014573
|
0.00002
|
NM_001164508.2(NEB):c.17380G>A (p.Asp5794Asn)
|
rs765593110
|
0.00002
|
NM_001164508.2(NEB):c.17389G>A (p.Asp5797Asn)
|
rs375143141
|
0.00002
|
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr)
|
rs1204919597
|
0.00002
|
NM_001164508.2(NEB):c.18052C>T (p.Leu6018Phe)
|
rs1223624917
|
0.00002
|
NM_001164508.2(NEB):c.1829G>A (p.Gly610Glu)
|
rs139125293
|
0.00002
|
NM_001164508.2(NEB):c.1872G>T (p.Leu624Phe)
|
rs775430225
|
0.00002
|
NM_001164508.2(NEB):c.19121A>G (p.Tyr6374Cys)
|
rs1177490619
|
0.00002
|
NM_001164508.2(NEB):c.1954A>G (p.Thr652Ala)
|
rs752227497
|
0.00002
|
NM_001164508.2(NEB):c.19861C>T (p.His6621Tyr)
|
rs1559832482
|
0.00002
|
NM_001164508.2(NEB):c.19913G>A (p.Arg6638Gln)
|
rs375307136
|
0.00002
|
NM_001164508.2(NEB):c.19978A>G (p.Thr6660Ala)
|
rs1027633106
|
0.00002
|
NM_001164508.2(NEB):c.20262+3G>A
|
rs763862179
|
0.00002
|
NM_001164508.2(NEB):c.22159G>C (p.Asp7387His)
|
rs770527289
|
0.00002
|
NM_001164508.2(NEB):c.22617A>T (p.Lys7539Asn)
|
rs755199802
|
0.00002
|
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu)
|
rs374029795
|
0.00002
|
NM_001164508.2(NEB):c.23928+4T>C
|
rs768465696
|
0.00002
|
NM_001164508.2(NEB):c.24358G>A (p.Glu8120Lys)
|
rs969631939
|
0.00002
|
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu)
|
rs751680308
|
0.00002
|
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys)
|
rs748561855
|
0.00002
|
NM_001164508.2(NEB):c.2521G>A (p.Asp841Asn)
|
rs377599060
|
0.00002
|
NM_001164508.2(NEB):c.25256T>C (p.Leu8419Pro)
|
rs370819880
|
0.00002
|
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys)
|
rs371027084
|
0.00002
|
NM_001164508.2(NEB):c.3491C>A (p.Ser1164Tyr)
|
rs944276562
|
0.00002
|
NM_001164508.2(NEB):c.4105G>A (p.Glu1369Lys)
|
rs779213215
|
0.00002
|
NM_001164508.2(NEB):c.4376A>T (p.Lys1459Met)
|
rs975412307
|
0.00002
|
NM_001164508.2(NEB):c.5177C>T (p.Thr1726Ile)
|
rs552140238
|
0.00002
|
NM_001164508.2(NEB):c.5882G>A (p.Arg1961His)
|
rs767185795
|
0.00002
|
NM_001164508.2(NEB):c.6658A>G (p.Met2220Val)
|
rs200481156
|
0.00002
|
NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp)
|
rs1204576083
|
0.00002
|
NM_001164508.2(NEB):c.8594T>C (p.Val2865Ala)
|
rs754454398
|
0.00002
|
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys)
|
rs370572955
|
0.00002
|
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr)
|
rs186634689
|
0.00002
|
NM_001164508.2(NEB):c.9939G>C (p.Gln3313His)
|
rs767908602
|
0.00002
|
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys)
|
rs748518353
|
0.00002
|
NM_006063.3(KLHL41):c.1306A>G (p.Lys436Glu)
|
rs1185067965
|
0.00002
|
NM_006063.3(KLHL41):c.1392G>T (p.Arg464Ser)
|
rs745775130
|
0.00002
|
NM_006063.3(KLHL41):c.1759T>C (p.Tyr587His)
|
rs770685517
|
0.00002
|
NM_006063.3(KLHL41):c.614G>A (p.Arg205Gln)
|
rs576773055
|
0.00002
|
NM_006063.3(KLHL41):c.757A>G (p.Lys253Glu)
|
rs773708864
|
0.00002
|
NM_152263.4(TPM3):c.855-1G>A
|
rs113605263
|
0.00002
|
NM_152263.4(TPM3):c.86A>C (p.Glu29Ala)
|
rs1049537934
|
0.00002
|
NM_001100.4(ACTA1):c.329C>T (p.Ala110Val)
|
rs970679543
|
0.00001
|
NM_001100.4(ACTA1):c.454+3G>T
|
rs200976037
|
0.00001
|
NM_001100.4(ACTA1):c.455-9C>G
|
rs772957464
|
0.00001
|
NM_001100.4(ACTA1):c.606C>A (p.Phe202Leu)
|
rs1255258064
|
0.00001
|
NM_001100.4(ACTA1):c.616+5G>A
|
rs773010488
|
0.00001
|
NM_001100.4(ACTA1):c.622C>A (p.Arg208Ser)
|
rs148514635
|
0.00001
|
NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr)
|
rs1659954399
|
0.00001
|
NM_001100.4(ACTA1):c.82G>T (p.Ala28Ser)
|
rs546670743
|
0.00001
|
NM_001101362.3(KBTBD13):c.1016C>T (p.Pro339Leu)
|
rs772222290
|
0.00001
|
NM_001101362.3(KBTBD13):c.1048C>A (p.Arg350Ser)
|
rs779744493
|
0.00001
|
NM_001101362.3(KBTBD13):c.1060T>C (p.Tyr354His)
|
rs1215359382
|
0.00001
|
NM_001101362.3(KBTBD13):c.1105A>G (p.Ile369Val)
|
rs780785524
|
0.00001
|
NM_001101362.3(KBTBD13):c.1112G>C (p.Cys371Ser)
|
rs1019923438
|
0.00001
|
NM_001101362.3(KBTBD13):c.1129G>A (p.Gly377Ser)
|
rs1322919655
|
0.00001
|
NM_001101362.3(KBTBD13):c.1133A>G (p.Gln378Arg)
|
rs769042275
|
0.00001
|
NM_001101362.3(KBTBD13):c.1189G>A (p.Val397Met)
|
rs1299910198
|
0.00001
|
NM_001101362.3(KBTBD13):c.121C>T (p.Arg41Trp)
|
rs775442274
|
0.00001
|
NM_001101362.3(KBTBD13):c.122G>A (p.Arg41Gln)
|
rs760757402
|
0.00001
|
NM_001101362.3(KBTBD13):c.1248C>G (p.Ile416Met)
|
rs1291680168
|
0.00001
|
NM_001101362.3(KBTBD13):c.1265G>A (p.Arg422Gln)
|
rs767053257
|
0.00001
|
NM_001101362.3(KBTBD13):c.1291C>T (p.Pro431Ser)
|
rs755476256
|
0.00001
|
NM_001101362.3(KBTBD13):c.1294C>T (p.Arg432Trp)
|
rs1376646798
|
0.00001
|
NM_001101362.3(KBTBD13):c.131G>C (p.Arg44Pro)
|
rs765124692
|
0.00001
|
NM_001101362.3(KBTBD13):c.1331C>T (p.Pro444Leu)
|
rs1301827044
|
0.00001
|
NM_001101362.3(KBTBD13):c.154G>A (p.Val52Ile)
|
rs1268655819
|
0.00001
|
NM_001101362.3(KBTBD13):c.167G>A (p.Gly56Glu)
|
rs1242559901
|
0.00001
|
NM_001101362.3(KBTBD13):c.16C>G (p.Gln6Glu)
|
rs752840796
|
0.00001
|
NM_001101362.3(KBTBD13):c.206G>A (p.Arg69Gln)
|
rs762769253
|
0.00001
|
NM_001101362.3(KBTBD13):c.266A>G (p.Gln89Arg)
|
rs1460367454
|
0.00001
|
NM_001101362.3(KBTBD13):c.367C>T (p.His123Tyr)
|
rs1013537691
|
0.00001
|
NM_001101362.3(KBTBD13):c.44G>A (p.Gly15Asp)
|
rs746640081
|
0.00001
|
NM_001101362.3(KBTBD13):c.491C>G (p.Thr164Arg)
|
rs1404956647
|
0.00001
|
NM_001101362.3(KBTBD13):c.511G>A (p.Glu171Lys)
|
rs1485601321
|
0.00001
|
NM_001101362.3(KBTBD13):c.542A>C (p.Asp181Ala)
|
rs1386416146
|
0.00001
|
NM_001101362.3(KBTBD13):c.557C>T (p.Ala186Val)
|
rs1435148449
|
0.00001
|
NM_001101362.3(KBTBD13):c.607G>C (p.Gly203Arg)
|
rs944113571
|
0.00001
|
NM_001101362.3(KBTBD13):c.632T>A (p.Leu211His)
|
rs924967048
|
0.00001
|
NM_001101362.3(KBTBD13):c.646G>A (p.Gly216Ser)
|
rs1052506752
|
0.00001
|
NM_001101362.3(KBTBD13):c.649G>A (p.Val217Met)
|
rs555158930
|
0.00001
|
NM_001101362.3(KBTBD13):c.64C>G (p.Arg22Gly)
|
rs1193653136
|
0.00001
|
NM_001101362.3(KBTBD13):c.677A>G (p.Glu226Gly)
|
rs1339316249
|
0.00001
|
NM_001101362.3(KBTBD13):c.739C>A (p.Pro247Thr)
|
rs1187855959
|
0.00001
|
NM_001101362.3(KBTBD13):c.775C>T (p.Arg259Cys)
|
rs780964425
|
0.00001
|
NM_001101362.3(KBTBD13):c.778C>T (p.Leu260Phe)
|
rs769416249
|
0.00001
|
NM_001101362.3(KBTBD13):c.793G>A (p.Gly265Ser)
|
rs764697405
|
0.00001
|
NM_001101362.3(KBTBD13):c.811C>G (p.Pro271Ala)
|
rs1436431809
|
0.00001
|
NM_001101362.3(KBTBD13):c.82C>T (p.His28Tyr)
|
rs2086976630
|
0.00001
|
NM_001101362.3(KBTBD13):c.853T>C (p.Trp285Arg)
|
rs768886246
|
0.00001
|
NM_001101362.3(KBTBD13):c.8G>A (p.Arg3Gln)
|
rs759494469
|
0.00001
|
NM_001101362.3(KBTBD13):c.901G>A (p.Ala301Thr)
|
rs540070816
|
0.00001
|
NM_001101362.3(KBTBD13):c.901G>T (p.Ala301Ser)
|
rs540070816
|
0.00001
|
NM_001101362.3(KBTBD13):c.914G>A (p.Gly305Asp)
|
rs2086998690
|
0.00001
|
NM_001164507.2(NEB):c.21359T>C (p.Leu7120Pro)
|
rs762447469
|
0.00001
|
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met)
|
rs530565802
|
0.00001
|
NM_001164508.2(NEB):c.10016T>G (p.Val3339Gly)
|
rs778763661
|
0.00001
|
NM_001164508.2(NEB):c.10037C>T (p.Thr3346Ile)
|
rs1560628791
|
0.00001
|
NM_001164508.2(NEB):c.10093G>A (p.Asp3365Asn)
|
rs1181779285
|
0.00001
|
NM_001164508.2(NEB):c.10112A>G (p.His3371Arg)
|
rs372053480
|
0.00001
|
NM_001164508.2(NEB):c.10154A>G (p.Lys3385Arg)
|
rs186278440
|
0.00001
|
NM_001164508.2(NEB):c.10166A>G (p.Gln3389Arg)
|
rs2098541776
|
0.00001
|
NM_001164508.2(NEB):c.10223A>G (p.Lys3408Arg)
|
rs762891609
|
0.00001
|
NM_001164508.2(NEB):c.10312G>A (p.Val3438Met)
|
rs746015217
|
0.00001
|
NM_001164508.2(NEB):c.10382C>A (p.Thr3461Asn)
|
rs1003683269
|
0.00001
|
NM_001164508.2(NEB):c.10560T>C (p.Asp3520=)
|
rs368803600
|
0.00001
|
NM_001164508.2(NEB):c.10846C>T (p.Arg3616Trp)
|
rs573036942
|
0.00001
|
NM_001164508.2(NEB):c.10856A>G (p.Tyr3619Cys)
|
rs1049205301
|
0.00001
|
NM_001164508.2(NEB):c.10910T>C (p.Ile3637Thr)
|
rs2098276722
|
0.00001
|
NM_001164508.2(NEB):c.10992G>C (p.Gln3664His)
|
rs1386975124
|
0.00001
|
NM_001164508.2(NEB):c.11181+3A>G
|
rs1448725511
|
0.00001
|
NM_001164508.2(NEB):c.11300A>G (p.Lys3767Arg)
|
rs761139484
|
0.00001
|
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg)
|
rs562419268
|
0.00001
|
NM_001164508.2(NEB):c.11506G>A (p.Asp3836Asn)
|
rs758723038
|
0.00001
|
NM_001164508.2(NEB):c.11506G>T (p.Asp3836Tyr)
|
rs758723038
|
0.00001
|
NM_001164508.2(NEB):c.11533G>C (p.Glu3845Gln)
|
rs755390933
|
0.00001
|
NM_001164508.2(NEB):c.11582C>T (p.Ala3861Val)
|
rs773465698
|
0.00001
|
NM_001164508.2(NEB):c.11884A>C (p.Lys3962Gln)
|
rs1194302071
|
0.00001
|
NM_001164508.2(NEB):c.11893T>G (p.Ser3965Ala)
|
rs1397887930
|
0.00001
|
NM_001164508.2(NEB):c.11946G>A (p.Met3982Ile)
|
rs2097912146
|
0.00001
|
NM_001164508.2(NEB):c.12005A>C (p.Asp4002Ala)
|
rs1457058013
|
0.00001
|
NM_001164508.2(NEB):c.12171G>T (p.Lys4057Asn)
|
rs747847680
|
0.00001
|
NM_001164508.2(NEB):c.12176C>G (p.Ser4059Cys)
|
rs1475951452
|
0.00001
|
NM_001164508.2(NEB):c.12192G>A (p.Met4064Ile)
|
rs776639447
|
0.00001
|
NM_001164508.2(NEB):c.12239T>C (p.Ile4080Thr)
|
rs557283717
|
0.00001
|
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe)
|
rs373883986
|
0.00001
|
NM_001164508.2(NEB):c.1257T>G (p.Asp419Glu)
|
rs549485763
|
0.00001
|
NM_001164508.2(NEB):c.12639+2dup
|
rs2097758186
|
0.00001
|
NM_001164508.2(NEB):c.1312T>G (p.Phe438Val)
|
rs959840049
|
0.00001
|
NM_001164508.2(NEB):c.13132A>G (p.Arg4378Gly)
|
rs1189557869
|
0.00001
|
NM_001164508.2(NEB):c.1365+5G>T
|
rs1553607969
|
0.00001
|
NM_001164508.2(NEB):c.1366A>G (p.Lys456Glu)
|
rs1484438248
|
0.00001
|
NM_001164508.2(NEB):c.1470C>T (p.Asp490=)
|
rs778189876
|
0.00001
|
NM_001164508.2(NEB):c.1478A>G (p.Tyr493Cys)
|
rs1576674181
|
0.00001
|
NM_001164508.2(NEB):c.1613A>G (p.His538Arg)
|
rs925195870
|
0.00001
|
NM_001164508.2(NEB):c.1648A>G (p.Lys550Glu)
|
rs756920047
|
0.00001
|
NM_001164508.2(NEB):c.16760G>A (p.Gly5587Glu)
|
rs1243813979
|
0.00001
|
NM_001164508.2(NEB):c.16814T>C (p.Val5605Ala)
|
rs527672223
|
0.00001
|
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr)
|
rs763012000
|
0.00001
|
NM_001164508.2(NEB):c.16967C>T (p.Thr5656Ile)
|
rs1353681047
|
0.00001
|
NM_001164508.2(NEB):c.17013+3A>G
|
rs200059848
|
0.00001
|
NM_001164508.2(NEB):c.17080A>G (p.Ile5694Val)
|
rs1287787210
|
0.00001
|
NM_001164508.2(NEB):c.17156A>T (p.His5719Leu)
|
rs776095941
|
0.00001
|
NM_001164508.2(NEB):c.1718T>C (p.Phe573Ser)
|
rs767710795
|
0.00001
|
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys)
|
rs1000108046
|
0.00001
|
NM_001164508.2(NEB):c.17347C>T (p.Arg5783Cys)
|
rs1037281077
|
0.00001
|
NM_001164508.2(NEB):c.1736C>T (p.Ala579Val)
|
rs2099581961
|
0.00001
|
NM_001164508.2(NEB):c.17372G>A (p.Cys5791Tyr)
|
rs780600292
|
0.00001
|
NM_001164508.2(NEB):c.17416G>A (p.Glu5806Lys)
|
rs748311158
|
0.00001
|
NM_001164508.2(NEB):c.17478G>A (p.Met5826Ile)
|
rs1298196178
|
0.00001
|
NM_001164508.2(NEB):c.17545C>T (p.Arg5849Cys)
|
rs771214344
|
0.00001
|
NM_001164508.2(NEB):c.1777A>G (p.Ser593Gly)
|
rs200951652
|
0.00001
|
NM_001164508.2(NEB):c.17844+5T>C
|
rs748989842
|
0.00001
|
NM_001164508.2(NEB):c.18073C>T (p.Arg6025Cys)
|
rs765174060
|
0.00001
|
NM_001164508.2(NEB):c.1826T>C (p.Ile609Thr)
|
rs748239538
|
0.00001
|
NM_001164508.2(NEB):c.1828G>A (p.Gly610Arg)
|
rs1166853973
|
0.00001
|
NM_001164508.2(NEB):c.18295C>T (p.Pro6099Ser)
|
rs1269081768
|
0.00001
|
NM_001164508.2(NEB):c.18330T>G (p.Ile6110Met)
|
rs2096323080
|
0.00001
|
NM_001164508.2(NEB):c.18439C>T (p.His6147Tyr)
|
rs1577779523
|
0.00001
|
NM_001164508.2(NEB):c.18542T>C (p.Ile6181Thr)
|
rs764500250
|
0.00001
|
NM_001164508.2(NEB):c.18568G>A (p.Val6190Met)
|
rs770824743
|
0.00001
|
NM_001164508.2(NEB):c.18709C>G (p.His6237Asp)
|
rs750141196
|
0.00001
|
NM_001164508.2(NEB):c.18811C>T (p.His6271Tyr)
|
rs932662350
|
0.00001
|
NM_001164508.2(NEB):c.19313A>G (p.His6438Arg)
|
rs1015281617
|
0.00001
|
NM_001164508.2(NEB):c.19324C>T (p.Arg6442Trp)
|
rs746394316
|
0.00001
|
NM_001164508.2(NEB):c.19372G>C (p.Val6458Leu)
|
rs774608228
|
0.00001
|
NM_001164508.2(NEB):c.1942A>T (p.Asn648Tyr)
|
rs1553592578
|
0.00001
|
NM_001164508.2(NEB):c.19486A>G (p.Met6496Val)
|
rs1354087086
|
0.00001
|
NM_001164508.2(NEB):c.19558G>A (p.Glu6520Lys)
|
rs753229810
|
0.00001
|
NM_001164508.2(NEB):c.19624G>A (p.Asp6542Asn)
|
rs757407447
|
0.00001
|
NM_001164508.2(NEB):c.19628T>C (p.Ile6543Thr)
|
rs756123091
|
0.00001
|
NM_001164508.2(NEB):c.19732-5G>A
|
rs779841022
|
0.00001
|
NM_001164508.2(NEB):c.19796T>C (p.Val6599Ala)
|
rs1238663844
|
0.00001
|
NM_001164508.2(NEB):c.19939A>G (p.Ser6647Gly)
|
rs1559830688
|
0.00001
|
NM_001164508.2(NEB):c.19940G>T (p.Ser6647Ile)
|
rs2095355799
|
0.00001
|
NM_001164508.2(NEB):c.19944+7A>G
|
rs201751179
|
0.00001
|
NM_001164508.2(NEB):c.19958C>A (p.Thr6653Asn)
|
rs1379492488
|
0.00001
|
NM_001164508.2(NEB):c.19967G>A (p.Arg6656His)
|
rs767200761
|
0.00001
|
NM_001164508.2(NEB):c.1998+4C>A
|
rs763334937
|
0.00001
|
NM_001164508.2(NEB):c.1998+5G>A
|
rs1015618560
|
0.00001
|
NM_001164508.2(NEB):c.1999G>A (p.Ala667Thr)
|
rs750186349
|
0.00001
|
NM_001164508.2(NEB):c.20040G>C (p.Met6680Ile)
|
rs368883773
|
0.00001
|
NM_001164508.2(NEB):c.20052C>A (p.Phe6684Leu)
|
rs750704829
|
0.00001
|
NM_001164508.2(NEB):c.20122G>T (p.Val6708Phe)
|
rs1312710050
|
0.00001
|
NM_001164508.2(NEB):c.20230C>A (p.Gln6744Lys)
|
rs766890449
|
0.00001
|
NM_001164508.2(NEB):c.20258G>A (p.Ser6753Asn)
|
rs2094881047
|
0.00001
|
NM_001164508.2(NEB):c.20371A>G (p.Lys6791Glu)
|
rs758370711
|
0.00001
|
NM_001164508.2(NEB):c.20437G>A (p.Val6813Ile)
|
rs951646007
|
0.00001
|
NM_001164508.2(NEB):c.20767G>A (p.Val6923Met)
|
rs753673376
|
0.00001
|
NM_001164508.2(NEB):c.20831C>T (p.Thr6944Ile)
|
rs763942330
|
0.00001
|
NM_001164508.2(NEB):c.20971C>T (p.Arg6991Cys)
|
rs901568718
|
0.00001
|
NM_001164508.2(NEB):c.21077G>A (p.Arg7026Gln)
|
rs1487630736
|
0.00001
|
NM_001164508.2(NEB):c.21196C>A (p.Leu7066Ile)
|
rs1428589113
|
0.00001
|
NM_001164508.2(NEB):c.21209A>G (p.Tyr7070Cys)
|
rs754366347
|
0.00001
|
NM_001164508.2(NEB):c.21269C>T (p.Pro7090Leu)
|
rs752467283
|
0.00001
|
NM_001164508.2(NEB):c.21312+5G>A
|
rs778363526
|
0.00001
|
NM_001164508.2(NEB):c.2135A>T (p.Asp712Val)
|
rs563934691
|
0.00001
|
NM_001164508.2(NEB):c.21497C>T (p.Thr7166Ile)
|
rs766520487
|
0.00001
|
NM_001164508.2(NEB):c.21566A>T (p.Tyr7189Phe)
|
rs794727042
|
0.00001
|
NM_001164508.2(NEB):c.21590T>C (p.Met7197Thr)
|
rs1229421352
|
0.00001
|
NM_001164508.2(NEB):c.21628G>A (p.Asp7210Asn)
|
rs2090426850
|
0.00001
|
NM_001164508.2(NEB):c.21630+6T>G
|
rs1401750275
|
0.00001
|
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser)
|
rs751872533
|
0.00001
|
NM_001164508.2(NEB):c.21829C>A (p.Gln7277Lys)
|
rs887471790
|
0.00001
|
NM_001164508.2(NEB):c.21840T>C (p.Asp7280=)
|
rs770721746
|
0.00001
|
NM_001164508.2(NEB):c.21974A>G (p.Glu7325Gly)
|
rs1159938154
|
0.00001
|
NM_001164508.2(NEB):c.22067A>G (p.His7356Arg)
|
rs1447292730
|
0.00001
|
NM_001164508.2(NEB):c.22091G>A (p.Gly7364Asp)
|
rs376684415
|
0.00001
|
NM_001164508.2(NEB):c.2211+5G>T
|
rs797045736
|
0.00001
|
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp)
|
rs779004876
|
0.00001
|
NM_001164508.2(NEB):c.22124C>G (p.Thr7375Ser)
|
rs1195608964
|
0.00001
|
NM_001164508.2(NEB):c.22161+5G>C
|
rs376988538
|
0.00001
|
NM_001164508.2(NEB):c.22374+6G>A
|
rs749050869
|
0.00001
|
NM_001164508.2(NEB):c.22412A>G (p.His7471Arg)
|
rs1553641474
|
0.00001
|
NM_001164508.2(NEB):c.22439A>C (p.Asp7480Ala)
|
rs886054928
|
0.00001
|
NM_001164508.2(NEB):c.22537A>G (p.Lys7513Glu)
|
rs570049431
|
0.00001
|
NM_001164508.2(NEB):c.22672A>T (p.Asn7558Tyr)
|
rs771643485
|
0.00001
|
NM_001164508.2(NEB):c.22774A>C (p.Lys7592Gln)
|
rs903199022
|
0.00001
|
NM_001164508.2(NEB):c.22850A>G (p.Asp7617Gly)
|
rs776739582
|
0.00001
|
NM_001164508.2(NEB):c.2306G>A (p.Ser769Asn)
|
rs534124991
|
0.00001
|
NM_001164508.2(NEB):c.23359G>A (p.Glu7787Lys)
|
rs1476557676
|
0.00001
|
NM_001164508.2(NEB):c.23594T>C (p.Ile7865Thr)
|
rs2068741180
|
0.00001
|
NM_001164508.2(NEB):c.23596G>A (p.Gly7866Arg)
|
rs1480807112
|
0.00001
|
NM_001164508.2(NEB):c.23649G>A (p.Ser7883=)
|
rs778102984
|
0.00001
|
NM_001164508.2(NEB):c.23660A>C (p.Lys7887Thr)
|
rs1166941249
|
0.00001
|
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly)
|
rs201498216
|
0.00001
|
NM_001164508.2(NEB):c.23764G>A (p.Gly7922Arg)
|
rs762094581
|
0.00001
|
NM_001164508.2(NEB):c.23765G>C (p.Gly7922Ala)
|
rs1253296856
|
0.00001
|
NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly)
|
rs1318564274
|
0.00001
|
NM_001164508.2(NEB):c.23816A>G (p.Asn7939Ser)
|
rs1461067378
|
0.00001
|
NM_001164508.2(NEB):c.23987A>T (p.Glu7996Val)
|
rs1312647029
|
0.00001
|
NM_001164508.2(NEB):c.24115G>T (p.Val8039Leu)
|
rs1037262755
|
0.00001
|
NM_001164508.2(NEB):c.24198C>A (p.Asn8066Lys)
|
rs2061715771
|
0.00001
|
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)
|
rs763193315
|
0.00001
|
NM_001164508.2(NEB):c.24254C>G (p.Thr8085Ser)
|
rs1297487988
|
0.00001
|
NM_001164508.2(NEB):c.24262A>G (p.Met8088Val)
|
rs746180925
|
0.00001
|
NM_001164508.2(NEB):c.24293T>C (p.Ile8098Thr)
|
rs372228043
|
0.00001
|
NM_001164508.2(NEB):c.24295A>T (p.Ser8099Cys)
|
rs1489581077
|
0.00001
|
NM_001164508.2(NEB):c.24306A>C (p.Leu8102Phe)
|
rs1217235799
|
0.00001
|
NM_001164508.2(NEB):c.2437G>A (p.Glu813Lys)
|
rs752442261
|
0.00001
|
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp)
|
rs960735572
|
0.00001
|
NM_001164508.2(NEB):c.24393G>A (p.Ser8131=)
|
rs527744844
|
0.00001
|
NM_001164508.2(NEB):c.24413T>C (p.Met8138Thr)
|
rs1320244420
|
0.00001
|
NM_001164508.2(NEB):c.24486G>A (p.Ser8162=)
|
rs1230102324
|
0.00001
|
NM_001164508.2(NEB):c.24729G>A (p.Met8243Ile)
|
rs2058043130
|
0.00001
|
NM_001164508.2(NEB):c.25063C>T (p.Arg8355Cys)
|
rs745632829
|
0.00001
|
NM_001164508.2(NEB):c.25150+3G>A
|
rs556224656
|
0.00001
|
NM_001164508.2(NEB):c.2523+5G>C
|
rs755864993
|
0.00001
|
NM_001164508.2(NEB):c.2533A>G (p.Lys845Glu)
|
rs772154599
|
0.00001
|
NM_001164508.2(NEB):c.25405-3T>G
|
rs1222497271
|
0.00001
|
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter)
|
rs1242654062
|
0.00001
|
NM_001164508.2(NEB):c.2579G>A (p.Ser860Asn)
|
rs1368018193
|
0.00001
|
NM_001164508.2(NEB):c.2593C>T (p.Pro865Ser)
|
rs751373246
|
0.00001
|
NM_001164508.2(NEB):c.2909A>T (p.Glu970Val)
|
rs1337927808
|
0.00001
|
NM_001164508.2(NEB):c.2923G>A (p.Ala975Thr)
|
rs917645712
|
0.00001
|
NM_001164508.2(NEB):c.3131C>G (p.Ala1044Gly)
|
rs748741238
|
0.00001
|
NM_001164508.2(NEB):c.3155A>G (p.Tyr1052Cys)
|
rs758214665
|
0.00001
|
NM_001164508.2(NEB):c.3168G>T (p.Leu1056Phe)
|
rs1254743889
|
0.00001
|
NM_001164508.2(NEB):c.3207T>G (p.Asp1069Glu)
|
rs1419430871
|
0.00001
|
NM_001164508.2(NEB):c.3224C>T (p.Ala1075Val)
|
rs574309369
|
0.00001
|
NM_001164508.2(NEB):c.3255+2dup
|
rs1276026682
|
0.00001
|
NM_001164508.2(NEB):c.3275A>C (p.Tyr1092Ser)
|
rs771687432
|
0.00001
|
NM_001164508.2(NEB):c.334C>A (p.Pro112Thr)
|
rs369292364
|
0.00001
|
NM_001164508.2(NEB):c.3371G>A (p.Arg1124Gln)
|
rs750762588
|
0.00001
|
NM_001164508.2(NEB):c.3373G>C (p.Glu1125Gln)
|
rs757784515
|
0.00001
|
NM_001164508.2(NEB):c.3379A>G (p.Lys1127Glu)
|
rs1180667550
|
0.00001
|
NM_001164508.2(NEB):c.3532G>A (p.Glu1178Lys)
|
rs774703099
|
0.00001
|
NM_001164508.2(NEB):c.3774T>C (p.Asp1258=)
|
rs761903657
|
0.00001
|
NM_001164508.2(NEB):c.390T>A (p.Asp130Glu)
|
rs2099787749
|
0.00001
|
NM_001164508.2(NEB):c.3987T>C (p.Asp1329=)
|
rs764778381
|
0.00001
|
NM_001164508.2(NEB):c.4003G>A (p.Ala1335Thr)
|
rs1219059740
|
0.00001
|
NM_001164508.2(NEB):c.4079A>G (p.Asn1360Ser)
|
rs774219262
|
0.00001
|
NM_001164508.2(NEB):c.4094A>T (p.Gln1365Leu)
|
rs375155384
|
0.00001
|
NM_001164508.2(NEB):c.4102C>T (p.Arg1368Cys)
|
rs772128314
|
0.00001
|
NM_001164508.2(NEB):c.4109A>G (p.Tyr1370Cys)
|
rs1230970164
|
0.00001
|
NM_001164508.2(NEB):c.4229A>G (p.His1410Arg)
|
rs758328454
|
0.00001
|
NM_001164508.2(NEB):c.422G>T (p.Gly141Val)
|
rs973669056
|
0.00001
|
NM_001164508.2(NEB):c.4233T>G (p.His1411Gln)
|
rs2099312487
|
0.00001
|
NM_001164508.2(NEB):c.4375A>G (p.Lys1459Glu)
|
rs371542110
|
0.00001
|
NM_001164508.2(NEB):c.4507-3T>C
|
rs747017871
|
0.00001
|
NM_001164508.2(NEB):c.452A>T (p.Asp151Val)
|
rs2099785772
|
0.00001
|
NM_001164508.2(NEB):c.4555G>A (p.Asp1519Asn)
|
rs781655186
|
0.00001
|
NM_001164508.2(NEB):c.4655A>G (p.Tyr1552Cys)
|
rs1257025966
|
0.00001
|
NM_001164508.2(NEB):c.4670A>G (p.Asp1557Gly)
|
rs774802662
|
0.00001
|
NM_001164508.2(NEB):c.4693A>G (p.Lys1565Glu)
|
rs767580883
|
0.00001
|
NM_001164508.2(NEB):c.4736C>A (p.Ala1579Asp)
|
rs751602407
|
0.00001
|
NM_001164508.2(NEB):c.4859C>T (p.Ala1620Val)
|
rs2099215851
|
0.00001
|
NM_001164508.2(NEB):c.4894G>A (p.Val1632Ile)
|
rs1575593044
|
0.00001
|
NM_001164508.2(NEB):c.5056A>G (p.Asn1686Asp)
|
rs369533357
|
0.00001
|
NM_001164508.2(NEB):c.5087T>C (p.Ile1696Thr)
|
rs937014596
|
0.00001
|
NM_001164508.2(NEB):c.5123G>A (p.Gly1708Glu)
|
rs971655417
|
0.00001
|
NM_001164508.2(NEB):c.53T>C (p.Val18Ala)
|
rs781637539
|
0.00001
|
NM_001164508.2(NEB):c.5434A>G (p.Arg1812Gly)
|
rs1466182533
|
0.00001
|
NM_001164508.2(NEB):c.5761G>T (p.Asp1921Tyr)
|
rs763408172
|
0.00001
|
NM_001164508.2(NEB):c.5768A>G (p.Gln1923Arg)
|
rs755003638
|
0.00001
|
NM_001164508.2(NEB):c.5866A>C (p.Ser1956Arg)
|
rs1258945263
|
0.00001
|
NM_001164508.2(NEB):c.5912C>T (p.Thr1971Ile)
|
rs762592136
|
0.00001
|
NM_001164508.2(NEB):c.5972A>G (p.His1991Arg)
|
rs750070644
|
0.00001
|
NM_001164508.2(NEB):c.6523T>C (p.Trp2175Arg)
|
rs1003397118
|
0.00001
|
NM_001164508.2(NEB):c.652T>G (p.Phe218Val)
|
rs1347757687
|
0.00001
|
NM_001164508.2(NEB):c.6530A>G (p.Lys2177Arg)
|
rs768844040
|
0.00001
|
NM_001164508.2(NEB):c.6622C>T (p.Pro2208Ser)
|
rs1369530664
|
0.00001
|
NM_001164508.2(NEB):c.6732T>G (p.Asp2244Glu)
|
rs765096308
|
0.00001
|
NM_001164508.2(NEB):c.6806A>G (p.Gln2269Arg)
|
rs768068829
|
0.00001
|
NM_001164508.2(NEB):c.6808-5T>C
|
rs887525004
|
0.00001
|
NM_001164508.2(NEB):c.6851A>G (p.Tyr2284Cys)
|
rs778637750
|
0.00001
|
NM_001164508.2(NEB):c.6986C>T (p.Pro2329Leu)
|
rs201154794
|
0.00001
|
NM_001164508.2(NEB):c.7016A>G (p.Lys2339Arg)
|
rs1452924362
|
0.00001
|
NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile)
|
rs372132667
|
0.00001
|
NM_001164508.2(NEB):c.7273A>T (p.Ser2425Cys)
|
rs758881101
|
0.00001
|
NM_001164508.2(NEB):c.7421A>G (p.Asn2474Ser)
|
rs776901478
|
0.00001
|
NM_001164508.2(NEB):c.7435C>T (p.Leu2479Phe)
|
rs1426898110
|
0.00001
|
NM_001164508.2(NEB):c.7465A>G (p.Thr2489Ala)
|
rs1321334284
|
0.00001
|
NM_001164508.2(NEB):c.7661G>A (p.Gly2554Asp)
|
rs770338556
|
0.00001
|
NM_001164508.2(NEB):c.7691G>T (p.Gly2564Val)
|
rs1334008702
|
0.00001
|
NM_001164508.2(NEB):c.7788G>T (p.Trp2596Cys)
|
rs377602828
|
0.00001
|
NM_001164508.2(NEB):c.7834G>A (p.Ala2612Thr)
|
rs779023599
|
0.00001
|
NM_001164508.2(NEB):c.7911G>C (p.Gln2637His)
|
rs771035225
|
0.00001
|
NM_001164508.2(NEB):c.8066T>C (p.Val2689Ala)
|
rs1241788939
|
0.00001
|
NM_001164508.2(NEB):c.8152A>T (p.Met2718Leu)
|
rs767511888
|
0.00001
|
NM_001164508.2(NEB):c.8162G>A (p.Arg2721His)
|
rs753996512
|
0.00001
|
NM_001164508.2(NEB):c.8372A>C (p.Glu2791Ala)
|
rs1414164577
|
0.00001
|
NM_001164508.2(NEB):c.8467G>A (p.Val2823Met)
|
rs757497327
|
0.00001
|
NM_001164508.2(NEB):c.8537C>T (p.Pro2846Leu)
|
rs765207403
|
0.00001
|
NM_001164508.2(NEB):c.8545A>T (p.Met2849Leu)
|
rs764499750
|
0.00001
|
NM_001164508.2(NEB):c.8A>G (p.Asp3Gly)
|
rs1245236784
|
0.00001
|
NM_001164508.2(NEB):c.9007C>G (p.Leu3003Val)
|
rs1415513452
|
0.00001
|
NM_001164508.2(NEB):c.901A>G (p.Arg301Gly)
|
rs756396449
|
0.00001
|
NM_001164508.2(NEB):c.9064A>G (p.Ile3022Val)
|
rs2098761523
|
0.00001
|
NM_001164508.2(NEB):c.9136G>T (p.Gly3046Cys)
|
rs1335899216
|
0.00001
|
NM_001164508.2(NEB):c.9196G>A (p.Val3066Ile)
|
rs755604172
|
0.00001
|
NM_001164508.2(NEB):c.9329A>G (p.Tyr3110Cys)
|
rs778306283
|
0.00001
|
NM_001164508.2(NEB):c.9419T>C (p.Ile3140Thr)
|
rs774964206
|
0.00001
|
NM_001164508.2(NEB):c.9425A>G (p.Lys3142Arg)
|
rs771774138
|
0.00001
|
NM_001164508.2(NEB):c.9517G>A (p.Asp3173Asn)
|
rs376224722
|
0.00001
|
NM_001164508.2(NEB):c.9568G>T (p.Asp3190Tyr)
|
rs781238222
|
0.00001
|
NM_001164508.2(NEB):c.9619-3T>C
|
rs756309002
|
0.00001
|
NM_001164508.2(NEB):c.9689T>C (p.Met3230Thr)
|
rs760551196
|
0.00001
|
NM_001164508.2(NEB):c.9694G>T (p.Ala3232Ser)
|
rs1329330602
|
0.00001
|
NM_001164508.2(NEB):c.9767A>G (p.Tyr3256Cys)
|
rs1365723573
|
0.00001
|
NM_001164508.2(NEB):c.9884G>A (p.Arg3295Gln)
|
rs201965465
|
0.00001
|
NM_001164508.2(NEB):c.9890T>C (p.Ile3297Thr)
|
rs1323917769
|
0.00001
|
NM_001164508.2(NEB):c.9964T>A (p.Phe3322Ile)
|
rs369385033
|
0.00001
|
NM_001164508.2(NEB):c.9986T>A (p.Phe3329Tyr)
|
rs776107526
|
0.00001
|
NM_006063.3(KLHL41):c.1075A>G (p.Asn359Asp)
|
rs143883202
|
0.00001
|
NM_006063.3(KLHL41):c.1147C>A (p.Pro383Thr)
|
rs760973350
|
0.00001
|
NM_006063.3(KLHL41):c.1174G>A (p.Gly392Ser)
|
rs374204816
|
0.00001
|
NM_006063.3(KLHL41):c.1346T>C (p.Ile449Thr)
|
rs1410868438
|
0.00001
|
NM_006063.3(KLHL41):c.1460T>C (p.Met487Thr)
|
rs753046029
|
0.00001
|
NM_006063.3(KLHL41):c.14G>A (p.Arg5Gln)
|
rs747822404
|
0.00001
|
NM_006063.3(KLHL41):c.1516G>T (p.Asp506Tyr)
|
rs746755443
|
0.00001
|
NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp)
|
rs1237694295
|
0.00001
|
NM_006063.3(KLHL41):c.1745T>C (p.Leu582Ser)
|
rs940060854
|
0.00001
|
NM_006063.3(KLHL41):c.176G>A (p.Arg59His)
|
rs759521852
|
0.00001
|
NM_006063.3(KLHL41):c.1794A>C (p.Leu598Phe)
|
rs893355163
|
0.00001
|
NM_006063.3(KLHL41):c.193G>A (p.Glu65Lys)
|
rs772174002
|
0.00001
|
NM_006063.3(KLHL41):c.209A>T (p.Lys70Ile)
|
rs751688698
|
0.00001
|
NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala)
|
rs553091070
|
0.00001
|
NM_006063.3(KLHL41):c.530A>C (p.Gln177Pro)
|
rs1053056040
|
0.00001
|
NM_006063.3(KLHL41):c.581A>C (p.Glu194Ala)
|
rs201591782
|
0.00001
|
NM_006063.3(KLHL41):c.751A>G (p.Lys251Glu)
|
rs777151398
|
0.00001
|
NM_006063.3(KLHL41):c.778G>A (p.Ala260Thr)
|
rs766071573
|
0.00001
|
NM_006063.3(KLHL41):c.812C>T (p.Ala271Val)
|
rs1304097331
|
0.00001
|
NM_006063.3(KLHL41):c.843T>G (p.Asp281Glu)
|
rs773869984
|
0.00001
|
NM_006063.3(KLHL41):c.883A>G (p.Ile295Val)
|
rs774846657
|
0.00001
|
NM_006063.3(KLHL41):c.959C>T (p.Thr320Met)
|
rs781536513
|
0.00001
|
NM_006063.3(KLHL41):c.994C>A (p.Gln332Lys)
|
rs756595110
|
0.00001
|
NM_152263.4(TPM3):c.567-4A>C
|
rs199517163
|
0.00001
|
NM_152263.4(TPM3):c.642+4G>T
|
rs1462764945
|
0.00001
|
NM_152263.4(TPM3):c.643-3C>T
|
rs529845435
|
0.00001
|
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln)
|
rs1553251640
|
0.00001
|
NM_152263.4(TPM3):c.680A>G (p.Lys227Arg)
|
rs201202440
|
0.00001
|
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr)
|
rs761036509
|
0.00001
|
NM_152263.4(TPM3):c.788C>G (p.Ala263Gly)
|
rs1455676920
|
0.00001
|
NM_152263.4(TPM3):c.816C>G (p.Ser272Arg)
|
rs536564074
|
0.00001
|
NM_152263.4(TPM3):c.829C>A (p.His277Asn)
|
rs747794605
|
0.00001
|
NM_152263.4(TPM3):c.832G>A (p.Ala278Thr)
|
rs377438824
|
0.00001
|
NM_152263.4(TPM3):c.835C>G (p.Leu279Val)
|
rs186253666
|
0.00001
|
NM_152263.4(TPM3):c.844A>G (p.Met282Val)
|
rs1661325667
|
0.00001
|
NM_152263.4(TPM3):c.853A>G (p.Ile285Val)
|
rs758557977
|
0.00001
|
NC_000001.10:g.(?_154140413)_(154164494_?)dup
|
|
|
NC_000001.10:g.(?_154163642)_(154164494_?)del
|
|
|
NC_000001.10:g.(?_229567246)_(232172577_?)dup
|
|
|
NC_000001.11:g.(?_154191166)_(154192038_?)del
|
|
|
NC_000001.11:g.(?_229431489)_(229433125_?)dup
|
|
|
NC_000002.11:g.(?_152342274)_(152432888_?)dup
|
|
|
NC_000002.11:g.(?_152369227)_(152376302_?)del
|
|
|
NC_000002.11:g.(?_152466303)_(152477560_?)dup
|
|
|
NC_000002.11:g.(?_152470770)_(152471121_?)del
|
|
|
NC_000002.11:g.(?_152484352)_152490482del
|
|
|
NC_000002.11:g.(?_152539156)_(152539303_?)del
|
|
|
NC_000002.11:g.(?_170366289)_(170382206_?)dup
|
|
|
NC_000002.12:g.(?_151496266)_(151497728_?)del
|
|
|
NC_000002.12:g.(?_151496921)_(151497053_?)del
|
|
|
NC_000002.12:g.(?_151496921)_(151497738_?)del
|
|
|
NC_000002.12:g.(?_151496931)_(151497043_?)del
|
|
|
NC_000002.12:g.(?_169509769)_(169525706_?)dup
|
|
|
NC_000015.9:g.(?_65255951)_(65370540_?)del
|
|
|
NM_001100.3(ACTA1):c.220G>C (p.Glu74Gln)
|
rs727503798
|
|
NM_001100.4(ACTA1):c.1010G>A (p.Arg337His)
|
|
|
NM_001100.4(ACTA1):c.1014A>C (p.Lys338Asn)
|
rs1553255306
|
|
NM_001100.4(ACTA1):c.1015T>A (p.Tyr339Asn)
|
|
|
NM_001100.4(ACTA1):c.1018T>G (p.Ser340Ala)
|
|
|
NM_001100.4(ACTA1):c.1030G>A (p.Gly344Ser)
|
|
|
NM_001100.4(ACTA1):c.1031G>A (p.Gly344Asp)
|
rs1558081360
|
|
NM_001100.4(ACTA1):c.1033G>A (p.Gly345Ser)
|
|
|
NM_001100.4(ACTA1):c.1044_1060del (p.Ala349fs)
|
rs2102735016
|
|
NM_001100.4(ACTA1):c.104C>G (p.Ser35Cys)
|
rs2102736568
|
|
NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala)
|
rs1659934469
|
|
NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)
|
|
|
NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile)
|
rs745494410
|
|
NM_001100.4(ACTA1):c.1109C>A (p.Ser370Tyr)
|
rs1553255290
|
|
NM_001100.4(ACTA1):c.113G>A (p.Gly38Asp)
|
rs2102736562
|
|
NM_001100.4(ACTA1):c.119C>G (p.Pro40Arg)
|
rs1659984455
|
|
NM_001100.4(ACTA1):c.121C>G (p.Arg41Gly)
|
rs1429699993
|
|
NM_001100.4(ACTA1):c.129+4A>T
|
|
|
NM_001100.4(ACTA1):c.130-11C>A
|
|
|
NM_001100.4(ACTA1):c.130-3C>T
|
|
|
NM_001100.4(ACTA1):c.130G>T (p.Gly44Cys)
|
rs1131691941
|
|
NM_001100.4(ACTA1):c.131G>T (p.Gly44Val)
|
rs1558082125
|
|
NM_001100.4(ACTA1):c.133G>A (p.Val45Ile)
|
rs398123562
|
|
NM_001100.4(ACTA1):c.148G>T (p.Gly50Cys)
|
rs1558082103
|
|
NM_001100.4(ACTA1):c.153G>C (p.Gln51His)
|
rs2102736429
|
|
NM_001100.4(ACTA1):c.191G>T (p.Arg64Ile)
|
rs2102736399
|
|
NM_001100.4(ACTA1):c.215C>T (p.Pro72Leu)
|
|
|
NM_001100.4(ACTA1):c.284A>G (p.Glu95Gly)
|
|
|
NM_001100.4(ACTA1):c.307C>T (p.His103Tyr)
|
|
|
NM_001100.4(ACTA1):c.311C>A (p.Pro104His)
|
|
|
NM_001100.4(ACTA1):c.323C>T (p.Thr108Ile)
|
rs1659976518
|
|
NM_001100.4(ACTA1):c.331_348del (p.Pro111_Ala116del)
|
|
|
NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile)
|
rs146508471
|
|
NM_001100.4(ACTA1):c.346G>T (p.Ala116Ser)
|
rs1659975786
|
|
NM_001100.4(ACTA1):c.349A>T (p.Asn117Tyr)
|
|
|
NM_001100.4(ACTA1):c.358A>C (p.Lys120Gln)
|
|
|
NM_001100.4(ACTA1):c.370A>G (p.Ile124Val)
|
|
|
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn)
|
rs1571894217
|
|
NM_001100.4(ACTA1):c.391G>A (p.Val131Met)
|
rs1273559032
|
|
NM_001100.4(ACTA1):c.3G>A (p.Met1Ile)
|
|
|
NM_001100.4(ACTA1):c.407T>C (p.Val136Ala)
|
|
|
NM_001100.4(ACTA1):c.40A>T (p.Asn14Tyr)
|
rs2102736617
|
|
NM_001100.4(ACTA1):c.410C>A (p.Ala137Asp)
|
|
|
NM_001100.4(ACTA1):c.425T>G (p.Leu142Arg)
|
rs1553255482
|
|
NM_001100.4(ACTA1):c.428C>T (p.Ser143Phe)
|
|
|
NM_001100.4(ACTA1):c.431T>C (p.Leu144Pro)
|
|
|
NM_001100.4(ACTA1):c.434A>T (p.Tyr145Phe)
|
|
|
NM_001100.4(ACTA1):c.437C>T (p.Ala146Val)
|
rs1659973054
|
|
NM_001100.4(ACTA1):c.442G>C (p.Gly148Arg)
|
rs398123563
|
|
NM_001100.4(ACTA1):c.446G>A (p.Arg149Lys)
|
rs398123564
|
|
NM_001100.4(ACTA1):c.452C>A (p.Thr151Asn)
|
rs2102736155
|
|
NM_001100.4(ACTA1):c.453C>G (p.Thr151=)
|
rs76030344
|
|
NM_001100.4(ACTA1):c.453C>T (p.Thr151=)
|
rs76030344
|
|
NM_001100.4(ACTA1):c.455-20TC[2]
|
|
|
NM_001100.4(ACTA1):c.455-7C>A
|
|
|
NM_001100.4(ACTA1):c.491A>G (p.Asn164Ser)
|
|
|
NM_001100.4(ACTA1):c.515C>T (p.Ala172Val)
|
rs587780272
|
|
NM_001100.4(ACTA1):c.517C>A (p.Leu173Met)
|
rs2102735941
|
|
NM_001100.4(ACTA1):c.532A>C (p.Met178Leu)
|
|
|
NM_001100.4(ACTA1):c.575T>C (p.Met192Thr)
|
rs1057523333
|
|
NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile)
|
rs2102735869
|
|
NM_001100.4(ACTA1):c.616+4C>G
|
rs371799971
|
|
NM_001100.4(ACTA1):c.616+4C>T
|
rs371799971
|
|
NM_001100.4(ACTA1):c.61G>A (p.Ala21Thr)
|
rs1659986179
|
|
NM_001100.4(ACTA1):c.627G>T (p.Glu209Asp)
|
|
|
NM_001100.4(ACTA1):c.64G>T (p.Gly22Cys)
|
|
|
NM_001100.4(ACTA1):c.659A>T (p.Tyr220Phe)
|
rs1571893107
|
|
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)
|
rs121909530
|
|
NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys)
|
rs1057521118
|
|
NM_001100.4(ACTA1):c.697_698delinsAA (p.Ala233Asn)
|
rs2102735641
|
|
NM_001100.4(ACTA1):c.69C>A (p.Phe23Leu)
|
|
|
NM_001100.4(ACTA1):c.709T>C (p.Ser237Pro)
|
|
|
NM_001100.4(ACTA1):c.713T>C (p.Leu238Pro)
|
rs1571893051
|
|
NM_001100.4(ACTA1):c.716A>G (p.Glu239Gly)
|
|
|
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys)
|
rs367543051
|
|
NM_001100.4(ACTA1):c.727G>C (p.Glu243Gln)
|
|
|
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)
|
rs748592740
|
|
NM_001100.4(ACTA1):c.738C>G (p.Asp246Glu)
|
|
|
NM_001100.4(ACTA1):c.742C>A (p.Gln248Lys)
|
rs1659954634
|
|
NM_001100.4(ACTA1):c.751A>T (p.Thr251Ser)
|
|
|
NM_001100.4(ACTA1):c.757G>T (p.Gly253Cys)
|
rs2102735572
|
|
NM_001100.4(ACTA1):c.796C>T (p.Pro266Ser)
|
rs1553255405
|
|
NM_001100.4(ACTA1):c.797C>T (p.Pro266Leu)
|
|
|
NM_001100.4(ACTA1):c.800C>G (p.Ser267Cys)
|
rs2102735536
|
|
NM_001100.4(ACTA1):c.805A>G (p.Ile269Val)
|
|
|
NM_001100.4(ACTA1):c.808+3G>A
|
rs549268481
|
|
NM_001100.4(ACTA1):c.809-10C>A
|
rs1659945481
|
|
NM_001100.4(ACTA1):c.809-9G>A
|
|
|
NM_001100.4(ACTA1):c.811A>G (p.Met271Val)
|
rs1553255361
|
|
NM_001100.4(ACTA1):c.819_820delinsTT (p.Ala274Ser)
|
|
|
NM_001100.4(ACTA1):c.81C>A (p.Asp27Glu)
|
rs1553255533
|
|
NM_001100.4(ACTA1):c.82G>A (p.Ala28Thr)
|
|
|
NM_001100.4(ACTA1):c.82_83delinsTG (p.Ala28Cys)
|
rs2102736585
|
|
NM_001100.4(ACTA1):c.836C>A (p.Thr279Asn)
|
|
|
NM_001100.4(ACTA1):c.866T>A (p.Ile289Asn)
|
rs1659943773
|
|
NM_001100.4(ACTA1):c.897C>A (p.Asn299Lys)
|
rs533868659
|
|
NM_001100.4(ACTA1):c.898G>T (p.Val300Phe)
|
rs1553255349
|
|
NM_001100.4(ACTA1):c.911G>A (p.Gly304Asp)
|
rs2102735242
|
|
NM_001100.4(ACTA1):c.922T>C (p.Tyr308His)
|
rs2102735230
|
|
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys)
|
rs878854374
|
|
NM_001100.4(ACTA1):c.963_968del (p.Leu322_Ala323del)
|
rs1553255336
|
|
NM_001100.4(ACTA1):c.964C>G (p.Leu322Val)
|
rs1659940726
|
|
NM_001100.4(ACTA1):c.965T>A (p.Leu322Gln)
|
rs1571892527
|
|
NM_001100.4(ACTA1):c.981G>C (p.Met327Ile)
|
rs1553255334
|
|
NM_001100.4(ACTA1):c.983_985del (p.Lys328del)
|
rs1659939983
|
|
NM_001100.4(ACTA1):c.986T>C (p.Ile329Thr)
|
|
|
NM_001100.4(ACTA1):c.986_989dup (p.Lys330fs)
|
|
|
NM_001100.4(ACTA1):c.990+3G>T
|
|
|
NM_001101362.3(KBTBD13):c.-20_265del (p.Met1_Gln89del)
|
rs2086974277
|
|
NM_001101362.3(KBTBD13):c.1001C>A (p.Ala334Asp)
|
|
|
NM_001101362.3(KBTBD13):c.1001C>T (p.Ala334Val)
|
rs200804273
|
|
NM_001101362.3(KBTBD13):c.1005_1006delinsAA (p.Leu336Met)
|
rs2140545326
|
|
NM_001101362.3(KBTBD13):c.1006C>A (p.Leu336Met)
|
rs1131691634
|
|
NM_001101362.3(KBTBD13):c.1006C>G (p.Leu336Val)
|
rs1131691634
|
|
NM_001101362.3(KBTBD13):c.1020G>C (p.Gln340His)
|
|
|
NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)
|
|
|
NM_001101362.3(KBTBD13):c.1034G>C (p.Cys345Ser)
|
|
|
NM_001101362.3(KBTBD13):c.103C>T (p.Leu35Phe)
|
|
|
NM_001101362.3(KBTBD13):c.1044C>G (p.Ala348=)
|
|
|
NM_001101362.3(KBTBD13):c.1048C>T (p.Arg350Cys)
|
|
|
NM_001101362.3(KBTBD13):c.1066G>C (p.Val356Leu)
|
|
|
NM_001101362.3(KBTBD13):c.1069C>T (p.Arg357Cys)
|
|
|
NM_001101362.3(KBTBD13):c.1108G>C (p.Asp370His)
|
rs779342567
|
|
NM_001101362.3(KBTBD13):c.113C>G (p.Ser38Cys)
|
|
|
NM_001101362.3(KBTBD13):c.1150G>A (p.Gly384Ser)
|
|
|
NM_001101362.3(KBTBD13):c.1158C>G (p.Phe386Leu)
|
|
|
NM_001101362.3(KBTBD13):c.115G>T (p.Gly39Cys)
|
rs201420126
|
|
NM_001101362.3(KBTBD13):c.1171G>A (p.Gly391Arg)
|
|
|
NM_001101362.3(KBTBD13):c.1184C>G (p.Thr395Arg)
|
rs758995387
|
|
NM_001101362.3(KBTBD13):c.1187C>T (p.Ala396Val)
|
|
|
NM_001101362.3(KBTBD13):c.118A>G (p.Met40Val)
|
rs1479237002
|
|
NM_001101362.3(KBTBD13):c.1196G>A (p.Arg399His)
|
|
|
NM_001101362.3(KBTBD13):c.1209C>G (p.Val403=)
|
|
|
NM_001101362.3(KBTBD13):c.1222dup (p.Arg408fs)
|
|
|
NM_001101362.3(KBTBD13):c.1240T>C (p.Tyr414His)
|
rs1555407759
|
|
NM_001101362.3(KBTBD13):c.1249G>C (p.Glu417Gln)
|
|
|
NM_001101362.3(KBTBD13):c.1274G>C (p.Arg425Thr)
|
|
|
NM_001101362.3(KBTBD13):c.1292C>T (p.Pro431Leu)
|
|
|
NM_001101362.3(KBTBD13):c.1297C>T (p.Pro433Ser)
|
rs1555407773
|
|
NM_001101362.3(KBTBD13):c.1307T>A (p.Leu436Ter)
|
rs2140546093
|
|
NM_001101362.3(KBTBD13):c.1322T>A (p.Leu441Gln)
|
|
|
NM_001101362.3(KBTBD13):c.1334C>A (p.Pro445His)
|
rs192406963
|
|
NM_001101362.3(KBTBD13):c.1356T>G (p.Thr452=)
|
|
|
NM_001101362.3(KBTBD13):c.1358C>G (p.Ser453Trp)
|
|
|
NM_001101362.3(KBTBD13):c.1361C>T (p.Thr454Ile)
|
|
|
NM_001101362.3(KBTBD13):c.1366del (p.Ala456fs)
|
|
|
NM_001101362.3(KBTBD13):c.136G>C (p.Ala46Pro)
|
|
|
NM_001101362.3(KBTBD13):c.1373T>C (p.Leu458Pro)
|
rs2140546272
|
|
NM_001101362.3(KBTBD13):c.139G>A (p.Glu47Lys)
|
|
|
NM_001101362.3(KBTBD13):c.13C>G (p.Pro5Ala)
|
rs2086975088
|
|
NM_001101362.3(KBTBD13):c.140A>G (p.Glu47Gly)
|
|
|
NM_001101362.3(KBTBD13):c.143T>C (p.Val48Ala)
|
|
|
NM_001101362.3(KBTBD13):c.145C>T (p.Arg49Cys)
|
|
|
NM_001101362.3(KBTBD13):c.146G>C (p.Arg49Pro)
|
|
|
NM_001101362.3(KBTBD13):c.146G>T (p.Arg49Leu)
|
rs1027726798
|
|
NM_001101362.3(KBTBD13):c.152G>C (p.Gly51Ala)
|
|
|
NM_001101362.3(KBTBD13):c.164C>T (p.Ala55Val)
|
rs757684085
|
|
NM_001101362.3(KBTBD13):c.170del (p.Gly57fs)
|
rs1555407559
|
|
NM_001101362.3(KBTBD13):c.174C>A (p.Phe58Leu)
|
|
|
NM_001101362.3(KBTBD13):c.175C>G (p.Arg59Gly)
|
|
|
NM_001101362.3(KBTBD13):c.175C>T (p.Arg59Cys)
|
rs1406748219
|
|
NM_001101362.3(KBTBD13):c.176G>A (p.Arg59His)
|
|
|
NM_001101362.3(KBTBD13):c.178G>C (p.Ala60Pro)
|
|
|
NM_001101362.3(KBTBD13):c.182C>T (p.Thr61Met)
|
|
|
NM_001101362.3(KBTBD13):c.191T>G (p.Val64Gly)
|
|
|
NM_001101362.3(KBTBD13):c.194T>C (p.Leu65Pro)
|
|
|
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His)
|
rs939242678
|
|
NM_001101362.3(KBTBD13):c.199G>A (p.Gly67Ser)
|
|
|
NM_001101362.3(KBTBD13):c.206G>C (p.Arg69Pro)
|
|
|
NM_001101362.3(KBTBD13):c.209C>G (p.Pro70Arg)
|
rs766269932
|
|
NM_001101362.3(KBTBD13):c.209C>T (p.Pro70Leu)
|
rs766269932
|
|
NM_001101362.3(KBTBD13):c.217G>A (p.Ala73Thr)
|
rs1313295854
|
|
NM_001101362.3(KBTBD13):c.218C>A (p.Ala73Glu)
|
|
|
NM_001101362.3(KBTBD13):c.225G>C (p.Glu75Asp)
|
|
|
NM_001101362.3(KBTBD13):c.226G>A (p.Asp76Asn)
|
rs1258831129
|
|
NM_001101362.3(KBTBD13):c.229G>C (p.Glu77Gln)
|
|
|
NM_001101362.3(KBTBD13):c.229_271dup (p.Pro91fs)
|
rs1401828622
|
|
NM_001101362.3(KBTBD13):c.238C>T (p.Gln80Ter)
|
rs886051333
|
|
NM_001101362.3(KBTBD13):c.23T>C (p.Leu8Pro)
|
|
|
NM_001101362.3(KBTBD13):c.241_242insTCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGG (p.Gln80_Ala81insValValGluCysAlaAlaPheLeuGlnAlaProAlaLeuAlaAlaGluAspGluLeuLeuGln)
|
|
|
NM_001101362.3(KBTBD13):c.247G>T (p.Glu83Ter)
|
rs781438362
|
|
NM_001101362.3(KBTBD13):c.253G>A (p.Ala85Thr)
|
rs1595912432
|
|
NM_001101362.3(KBTBD13):c.25G>T (p.Val9Leu)
|
|
|
NM_001101362.3(KBTBD13):c.269C>T (p.Ala90Val)
|
|
|
NM_001101362.3(KBTBD13):c.272_286dup (p.Arg95_Phe96insSerAlaLeuAlaArg)
|
|
|
NM_001101362.3(KBTBD13):c.27G>A (p.Val9=)
|
|
|
NM_001101362.3(KBTBD13):c.283C>T (p.Arg95Cys)
|
|
|
NM_001101362.3(KBTBD13):c.291G>C (p.Leu97=)
|
|
|
NM_001101362.3(KBTBD13):c.292G>A (p.Glu98Lys)
|
rs752222694
|
|
NM_001101362.3(KBTBD13):c.292G>C (p.Glu98Gln)
|
|
|
NM_001101362.3(KBTBD13):c.292G>T (p.Glu98Ter)
|
|
|
NM_001101362.3(KBTBD13):c.314A>T (p.Asn105Ile)
|
rs2086983386
|
|
NM_001101362.3(KBTBD13):c.31G>A (p.Val11Met)
|
|
|
NM_001101362.3(KBTBD13):c.320C>G (p.Ala107Gly)
|
rs1264692363
|
|
NM_001101362.3(KBTBD13):c.325_327dup (p.Leu109_Cys110insLeu)
|
|
|
NM_001101362.3(KBTBD13):c.331G>C (p.Asp111His)
|
|
|
NM_001101362.3(KBTBD13):c.331G>T (p.Asp111Tyr)
|
|
|
NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu)
|
|
|
NM_001101362.3(KBTBD13):c.340G>C (p.Ala114Pro)
|
rs1344068633
|
|
NM_001101362.3(KBTBD13):c.348C>A (p.Phe116Leu)
|
rs1222501717
|
|
NM_001101362.3(KBTBD13):c.34T>G (p.Trp12Gly)
|
|
|
NM_001101362.3(KBTBD13):c.350_351delinsCA (p.Gly117Ala)
|
rs2086984445
|
|
NM_001101362.3(KBTBD13):c.355C>G (p.Arg119Gly)
|
rs1222805926
|
|
NM_001101362.3(KBTBD13):c.360C>G (p.Asp120Glu)
|
|
|
NM_001101362.3(KBTBD13):c.374C>G (p.Ala125Gly)
|
rs575149903
|
|
NM_001101362.3(KBTBD13):c.381_382dup (p.Phe128fs)
|
|
|
NM_001101362.3(KBTBD13):c.387C>G (p.Ile129Met)
|
rs1246047806
|
|
NM_001101362.3(KBTBD13):c.389G>C (p.Cys130Ser)
|
rs1316788781
|
|
NM_001101362.3(KBTBD13):c.392A>C (p.Asp131Ala)
|
|
|
NM_001101362.3(KBTBD13):c.397G>A (p.Glu133Lys)
|
rs192935606
|
|
NM_001101362.3(KBTBD13):c.400C>G (p.Arg134Gly)
|
|
|
NM_001101362.3(KBTBD13):c.405G>C (p.Glu135Asp)
|
rs2086986320
|
|
NM_001101362.3(KBTBD13):c.40G>A (p.Gly14Ser)
|
|
|
NM_001101362.3(KBTBD13):c.412_423dup (p.Ala138_Ala141dup)
|
rs2086986389
|
|
NM_001101362.3(KBTBD13):c.415G>A (p.Glu139Lys)
|
rs1244821047
|
|
NM_001101362.3(KBTBD13):c.423G>A (p.Ala141=)
|
|
|
NM_001101362.3(KBTBD13):c.424C>A (p.Leu142Met)
|
rs1476921965
|
|
NM_001101362.3(KBTBD13):c.432G>C (p.Glu144Asp)
|
|
|
NM_001101362.3(KBTBD13):c.434C>A (p.Ala145Asp)
|
|
|
NM_001101362.3(KBTBD13):c.439G>A (p.Ala147Thr)
|
|
|
NM_001101362.3(KBTBD13):c.444C>G (p.Tyr148Ter)
|
|
|
NM_001101362.3(KBTBD13):c.449C>T (p.Ala150Val)
|
|
|
NM_001101362.3(KBTBD13):c.470A>T (p.Tyr157Phe)
|
rs1481116487
|
|
NM_001101362.3(KBTBD13):c.471C>G (p.Tyr157Ter)
|
rs550724858
|
|
NM_001101362.3(KBTBD13):c.473_474del (p.Ala158fs)
|
|
|
NM_001101362.3(KBTBD13):c.475G>A (p.Ala159Thr)
|
rs2140544169
|
|
NM_001101362.3(KBTBD13):c.475_478dup (p.Val160fs)
|
|
|
NM_001101362.3(KBTBD13):c.477del (p.Ala159_Val160insTer)
|
rs1555407608
|
|
NM_001101362.3(KBTBD13):c.481A>T (p.Ser161Cys)
|
|
|
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro)
|
rs777916743
|
|
NM_001101362.3(KBTBD13):c.521C>G (p.Ser174Trp)
|
rs772025364
|
|
NM_001101362.3(KBTBD13):c.521C>T (p.Ser174Leu)
|
rs772025364
|
|
NM_001101362.3(KBTBD13):c.524G>C (p.Arg175Pro)
|
rs1226640143
|
|
NM_001101362.3(KBTBD13):c.527C>T (p.Thr176Met)
|
|
|
NM_001101362.3(KBTBD13):c.537C>G (p.Tyr179Ter)
|
rs1465166108
|
|
NM_001101362.3(KBTBD13):c.541G>T (p.Asp181Tyr)
|
|
|
NM_001101362.3(KBTBD13):c.544G>T (p.Glu182Ter)
|
rs952061379
|
|
NM_001101362.3(KBTBD13):c.552G>C (p.Glu184Asp)
|
rs1595912705
|
|
NM_001101362.3(KBTBD13):c.563G>A (p.Arg188His)
|
|
|
NM_001101362.3(KBTBD13):c.571G>C (p.Ala191Pro)
|
rs2086990576
|
|
NM_001101362.3(KBTBD13):c.572C>G (p.Ala191Gly)
|
rs1014978095
|
|
NM_001101362.3(KBTBD13):c.580C>T (p.Pro194Ser)
|
|
|
NM_001101362.3(KBTBD13):c.581C>T (p.Pro194Leu)
|
rs1481658087
|
|
NM_001101362.3(KBTBD13):c.589G>A (p.Ala197Thr)
|
|
|
NM_001101362.3(KBTBD13):c.592A>G (p.Ser198Gly)
|
|
|
NM_001101362.3(KBTBD13):c.594C>G (p.Ser198Arg)
|
rs1365801743
|
|
NM_001101362.3(KBTBD13):c.607G>A (p.Gly203Arg)
|
rs944113571
|
|
NM_001101362.3(KBTBD13):c.607_615del (p.Gly203_Ala205del)
|
rs1595912738
|
|
NM_001101362.3(KBTBD13):c.610G>A (p.Val204Met)
|
|
|
NM_001101362.3(KBTBD13):c.614C>T (p.Ala205Val)
|
|
|
NM_001101362.3(KBTBD13):c.623G>A (p.Gly208Asp)
|
rs1198118426
|
|
NM_001101362.3(KBTBD13):c.625A>T (p.Asn209Tyr)
|
|
|
NM_001101362.3(KBTBD13):c.626A>G (p.Asn209Ser)
|
rs1039913863
|
|
NM_001101362.3(KBTBD13):c.627C>T (p.Asn209=)
|
|
|
NM_001101362.3(KBTBD13):c.640G>A (p.Val214Met)
|
|
|
NM_001101362.3(KBTBD13):c.653G>A (p.Arg218His)
|
|
|
NM_001101362.3(KBTBD13):c.656G>C (p.Gly219Ala)
|
|
|
NM_001101362.3(KBTBD13):c.65G>T (p.Arg22Leu)
|
|
|
NM_001101362.3(KBTBD13):c.697C>A (p.Pro233Thr)
|
|
|
NM_001101362.3(KBTBD13):c.700G>A (p.Asp234Asn)
|
|
|
NM_001101362.3(KBTBD13):c.702C>G (p.Asp234Glu)
|
rs761192296
|
|
NM_001101362.3(KBTBD13):c.703G>A (p.Gly235Ser)
|
rs1278649126
|
|
NM_001101362.3(KBTBD13):c.706G>A (p.Gly236Ser)
|
|
|
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys)
|
rs1293899823
|
|
NM_001101362.3(KBTBD13):c.738G>A (p.Gln246=)
|
|
|
NM_001101362.3(KBTBD13):c.740C>G (p.Pro247Arg)
|
|
|
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser)
|
rs200549195
|
|
NM_001101362.3(KBTBD13):c.746A>G (p.Tyr249Cys)
|
|
|
NM_001101362.3(KBTBD13):c.751A>C (p.Thr251Pro)
|
|
|
NM_001101362.3(KBTBD13):c.752_753del (p.Thr251fs)
|
rs770027984
|
|
NM_001101362.3(KBTBD13):c.75_76delinsCT (p.Val26Leu)
|
rs2140543014
|
|
NM_001101362.3(KBTBD13):c.768C>A (p.Phe256Leu)
|
|
|
NM_001101362.3(KBTBD13):c.769G>A (p.Asp257Asn)
|
rs568675071
|
|
NM_001101362.3(KBTBD13):c.76G>A (p.Val26Met)
|
rs775846405
|
|
NM_001101362.3(KBTBD13):c.782A>G (p.Tyr261Cys)
|
rs958756775
|
|
NM_001101362.3(KBTBD13):c.784G>A (p.Ala262Thr)
|
|
|
NM_001101362.3(KBTBD13):c.797_798delinsTG (p.Glu266Val)
|
|
|
NM_001101362.3(KBTBD13):c.823G>C (p.Val275Leu)
|
rs1566960251
|
|
NM_001101362.3(KBTBD13):c.829C>G (p.Arg277Gly)
|
rs754708028
|
|
NM_001101362.3(KBTBD13):c.83A>G (p.His28Arg)
|
|
|
NM_001101362.3(KBTBD13):c.842C>T (p.Ala281Val)
|
rs1171797812
|
|
NM_001101362.3(KBTBD13):c.843C>T (p.Ala281=)
|
|
|
NM_001101362.3(KBTBD13):c.847G>A (p.Gly283Ser)
|
rs770737413
|
|
NM_001101362.3(KBTBD13):c.861C>G (p.Phe287Leu)
|
rs777259450
|
|
NM_001101362.3(KBTBD13):c.862G>A (p.Val288Met)
|
|
|
NM_001101362.3(KBTBD13):c.86del (p.Cys29fs)
|
rs1191393272
|
|
NM_001101362.3(KBTBD13):c.886G>A (p.Ala296Thr)
|
|
|
NM_001101362.3(KBTBD13):c.887C>T (p.Ala296Val)
|
rs1469851032
|
|
NM_001101362.3(KBTBD13):c.888del (p.Gly297fs)
|
|
|
NM_001101362.3(KBTBD13):c.925G>C (p.Val309Leu)
|
rs532324778
|
|
NM_001101362.3(KBTBD13):c.938G>T (p.Arg313Leu)
|
rs1399367095
|
|
NM_001101362.3(KBTBD13):c.939_940delinsAT (p.Pro314Ser)
|
rs2086999390
|
|
NM_001101362.3(KBTBD13):c.946G>A (p.Asp316Asn)
|
rs2140545192
|
|
NM_001101362.3(KBTBD13):c.949del (p.Thr317fs)
|
rs2140545202
|
|
NM_001101362.3(KBTBD13):c.958G>C (p.Val320Leu)
|
|
|
NM_001101362.3(KBTBD13):c.965_975del (p.Glu322fs)
|
rs2087000027
|
|
NM_001101362.3(KBTBD13):c.970G>A (p.Ala324Thr)
|
rs1216341966
|
|
NM_001101362.3(KBTBD13):c.977G>C (p.Arg326Pro)
|
rs779729198
|
|
NM_001101362.3(KBTBD13):c.97C>G (p.Arg33Gly)
|
|
|
NM_001101362.3(KBTBD13):c.985G>T (p.Ala329Ser)
|
rs1158844505
|
|
NM_001101362.3(KBTBD13):c.988T>A (p.Trp330Arg)
|
|
|
NM_001101362.3(KBTBD13):c.98G>A (p.Arg33Gln)
|
rs200548009
|
|
NM_001101362.3(KBTBD13):c.990G>C (p.Trp330Cys)
|
rs1064797021
|
|
NM_001164507.2(NEB):c.21348T>G (p.Asp7116Glu)
|
rs199934793
|
|
NM_001164507.2(NEB):c.21352T>C (p.Tyr7118His)
|
|
|
NM_001164507.2(NEB):c.21397G>T (p.Ala7133Ser)
|
rs988993094
|
|
NM_001164508.2(NEB):c.10007T>C (p.Leu3336Pro)
|
rs1392434296
|
|
NM_001164508.2(NEB):c.10012G>A (p.Val3338Met)
|
rs534475193
|
|
NM_001164508.2(NEB):c.10015G>T (p.Val3339Leu)
|
|
|
NM_001164508.2(NEB):c.10021G>T (p.Ala3341Ser)
|
rs1574279999
|
|
NM_001164508.2(NEB):c.10036A>G (p.Thr3346Ala)
|
rs2098550963
|
|
NM_001164508.2(NEB):c.10048G>A (p.Asp3350Asn)
|
rs377180119
|
|
NM_001164508.2(NEB):c.1004T>A (p.Met335Lys)
|
|
|
NM_001164508.2(NEB):c.10056C>G (p.Asp3352Glu)
|
|
|
NM_001164508.2(NEB):c.10058A>G (p.Tyr3353Cys)
|
|
|
NM_001164508.2(NEB):c.10061A>G (p.Lys3354Arg)
|
|
|
NM_001164508.2(NEB):c.10080G>T (p.Trp3360Cys)
|
rs1574278301
|
|
NM_001164508.2(NEB):c.10087C>A (p.Leu3363Met)
|
rs2098550303
|
|
NM_001164508.2(NEB):c.10143+5G>C
|
rs1158552388
|
|
NM_001164508.2(NEB):c.10144-10_10144-9delinsG
|
rs1553928417
|
|
NM_001164508.2(NEB):c.10144-17GT[3]
|
|
|
NM_001164508.2(NEB):c.10144-7_10144-5del
|
rs2154058615
|
|
NM_001164508.2(NEB):c.10154A>T (p.Lys3385Ile)
|
|
|
NM_001164508.2(NEB):c.1016C>T (p.Ala339Val)
|
|
|
NM_001164508.2(NEB):c.10211T>G (p.Val3404Gly)
|
rs2154058359
|
|
NM_001164508.2(NEB):c.10213G>T (p.Val3405Phe)
|
rs1553927988
|
|
NM_001164508.2(NEB):c.10217A>G (p.Lys3406Arg)
|
rs1574259964
|
|
NM_001164508.2(NEB):c.10228G>A (p.Ala3410Thr)
|
rs1298375132
|
|
NM_001164508.2(NEB):c.10231G>T (p.Ala3411Ser)
|
rs727504034
|
|
NM_001164508.2(NEB):c.10259G>A (p.Arg3420His)
|
|
|
NM_001164508.2(NEB):c.10289G>A (p.Ser3430Asn)
|
rs1370385550
|
|
NM_001164508.2(NEB):c.10303C>G (p.Leu3435Val)
|
rs768451216
|
|
NM_001164508.2(NEB):c.10316T>C (p.Leu3439Pro)
|
rs2154058008
|
|
NM_001164508.2(NEB):c.10326C>G (p.Asn3442Lys)
|
|
|
NM_001164508.2(NEB):c.10347+3G>A
|
rs1226603362
|
|
NM_001164508.2(NEB):c.10347G>A (p.Lys3449=)
|
rs1051033510
|
|
NM_001164508.2(NEB):c.10349G>A (p.Arg3450His)
|
|
|
NM_001164508.2(NEB):c.1035+15T>C
|
|
|
NM_001164508.2(NEB):c.1035+6A>G
|
rs1577251081
|
|
NM_001164508.2(NEB):c.10358C>A (p.Thr3453Lys)
|
rs781408732
|
|
NM_001164508.2(NEB):c.10369G>A (p.Asp3457Asn)
|
rs1319060772
|
|
NM_001164508.2(NEB):c.10373A>C (p.Lys3458Thr)
|
|
|
NM_001164508.2(NEB):c.10381A>G (p.Thr3461Ala)
|
|
|
NM_001164508.2(NEB):c.10419G>T (p.Met3473Ile)
|
rs368842783
|
|
NM_001164508.2(NEB):c.10423G>T (p.Ala3475Ser)
|
rs2098506984
|
|
NM_001164508.2(NEB):c.10433A>G (p.Asn3478Ser)
|
rs1246003078
|
|
NM_001164508.2(NEB):c.10447A>G (p.Ser3483Gly)
|
|
|
NM_001164508.2(NEB):c.10452+3A>G
|
rs2154051876
|
|
NM_001164508.2(NEB):c.10453-17A>G
|
|
|
NM_001164508.2(NEB):c.10453A>T (p.Ser3485Cys)
|
rs2154027931
|
|
NM_001164508.2(NEB):c.10519C>T (p.Pro3507Ser)
|
|
|
NM_001164508.2(NEB):c.10537G>A (p.Ala3513Thr)
|
rs1560541262
|
|
NM_001164508.2(NEB):c.10560+4A>G
|
|
|
NM_001164508.2(NEB):c.10599C>A (p.His3533Gln)
|
|
|
NM_001164508.2(NEB):c.10603A>T (p.Ile3535Phe)
|
|
|
NM_001164508.2(NEB):c.10613G>T (p.Arg3538Leu)
|
|
|
NM_001164508.2(NEB):c.10624G>A (p.Asp3542Asn)
|
rs777939660
|
|
NM_001164508.2(NEB):c.10624G>C (p.Asp3542His)
|
|
|
NM_001164508.2(NEB):c.1063A>G (p.Asn355Asp)
|
|
|
NM_001164508.2(NEB):c.10654A>T (p.Ile3552Phe)
|
|
|
NM_001164508.2(NEB):c.10657G>T (p.Ala3553Ser)
|
rs1372803594
|
|
NM_001164508.2(NEB):c.10660A>G (p.Lys3554Glu)
|
rs1553912139
|
|
NM_001164508.2(NEB):c.10687A>G (p.Lys3563Glu)
|
|
|
NM_001164508.2(NEB):c.10706A>G (p.Lys3569Arg)
|
rs371572709
|
|
NM_001164508.2(NEB):c.10709C>T (p.Thr3570Ile)
|
|
|
NM_001164508.2(NEB):c.1070G>A (p.Gly357Glu)
|
rs1221725692
|
|
NM_001164508.2(NEB):c.10712G>A (p.Arg3571Lys)
|
rs761487598
|
|
NM_001164508.2(NEB):c.10783G>A (p.Asp3595Asn)
|
|
|
NM_001164508.2(NEB):c.10792C>T (p.His3598Tyr)
|
|
|
NM_001164508.2(NEB):c.10807T>C (p.Trp3603Arg)
|
|
|
NM_001164508.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal)
|
rs1573936944
|
|
NM_001164508.2(NEB):c.10817T>C (p.Leu3606Pro)
|
|
|
NM_001164508.2(NEB):c.10819C>A (p.Pro3607Thr)
|
rs2098331597
|
|
NM_001164508.2(NEB):c.10822G>A (p.Asp3608Asn)
|
|
|
NM_001164508.2(NEB):c.10855T>C (p.Tyr3619His)
|
|
|
NM_001164508.2(NEB):c.10861C>G (p.Leu3621Val)
|
rs1573934764
|
|
NM_001164508.2(NEB):c.10870G>A (p.Asp3624Asn)
|
|
|
NM_001164508.2(NEB):c.10872+4A>G
|
|
|
NM_001164508.2(NEB):c.10880A>G (p.Tyr3627Cys)
|
rs573537251
|
|
NM_001164508.2(NEB):c.10884G>T (p.Lys3628Asn)
|
rs2154017407
|
|
NM_001164508.2(NEB):c.10913G>C (p.Gly3638Ala)
|
|
|
NM_001164508.2(NEB):c.10955G>A (p.Arg3652Lys)
|
rs1553908653
|
|
NM_001164508.2(NEB):c.10957G>A (p.Ala3653Thr)
|
|
|
NM_001164508.2(NEB):c.10972A>G (p.Ser3658Gly)
|
rs2154016610
|
|
NM_001164508.2(NEB):c.10982T>C (p.Ile3661Thr)
|
rs886940194
|
|
NM_001164508.2(NEB):c.11022A>G (p.Ile3674Met)
|
|
|
NM_001164508.2(NEB):c.11032C>G (p.Pro3678Ala)
|
rs879255369
|
|
NM_001164508.2(NEB):c.11054A>G (p.Asn3685Ser)
|
|
|
NM_001164508.2(NEB):c.11077-18_11077-17insTCTCTC
|
|
|
NM_001164508.2(NEB):c.11077-20_11077-19insCTC
|
rs1553905611
|
|
NM_001164508.2(NEB):c.11119C>T (p.His3707Tyr)
|
|
|
NM_001164508.2(NEB):c.11132A>T (p.Asp3711Val)
|
|
|
NM_001164508.2(NEB):c.11147T>C (p.Met3716Thr)
|
rs2098235987
|
|
NM_001164508.2(NEB):c.11164C>G (p.Arg3722Gly)
|
|
|
NM_001164508.2(NEB):c.11173T>C (p.Tyr3725His)
|
|
|
NM_001164508.2(NEB):c.11177G>A (p.Ser3726Asn)
|
|
|
NM_001164508.2(NEB):c.11207A>T (p.Glu3736Val)
|
|
|
NM_001164508.2(NEB):c.1121A>G (p.Gln374Arg)
|
|
|
NM_001164508.2(NEB):c.11234G>A (p.Arg3745His)
|
|
|
NM_001164508.2(NEB):c.11239G>T (p.Asp3747Tyr)
|
|
|
NM_001164508.2(NEB):c.11248C>T (p.Pro3750Ser)
|
|
|
NM_001164508.2(NEB):c.11249C>A (p.Pro3750Gln)
|
rs2098183275
|
|
NM_001164508.2(NEB):c.11253C>G (p.Ile3751Met)
|
|
|
NM_001164508.2(NEB):c.11288A>G (p.Asp3763Gly)
|
|
|
NM_001164508.2(NEB):c.11312G>T (p.Arg3771Leu)
|
rs374486286
|
|
NM_001164508.2(NEB):c.11324G>A (p.Gly3775Asp)
|
|
|
NM_001164508.2(NEB):c.11339C>A (p.Ala3780Asp)
|
|
|
NM_001164508.2(NEB):c.11342G>A (p.Arg3781Gln)
|
|
|
NM_001164508.2(NEB):c.11360C>G (p.Pro3787Arg)
|
|
|
NM_001164508.2(NEB):c.11360C>T (p.Pro3787Leu)
|
|
|
NM_001164508.2(NEB):c.11367G>T (p.Met3789Ile)
|
rs1256861153
|
|
NM_001164508.2(NEB):c.11371T>C (p.Trp3791Arg)
|
rs2098127092
|
|
NM_001164508.2(NEB):c.11403C>G (p.Asp3801Glu)
|
|
|
NM_001164508.2(NEB):c.11417A>G (p.Lys3806Arg)
|
rs2098126289
|
|
NM_001164508.2(NEB):c.11440A>G (p.Lys3814Glu)
|
rs1553897365
|
|
NM_001164508.2(NEB):c.11441A>G (p.Lys3814Arg)
|
|
|
NM_001164508.2(NEB):c.11450G>A (p.Ser3817Asn)
|
rs776337697
|
|
NM_001164508.2(NEB):c.11459A>T (p.Asp3820Val)
|
rs1008059245
|
|
NM_001164508.2(NEB):c.11461A>T (p.Met3821Leu)
|
rs1057524782
|
|
NM_001164508.2(NEB):c.11467G>C (p.Gly3823Arg)
|
rs1489953672
|
|
NM_001164508.2(NEB):c.11498T>C (p.Leu3833Pro)
|
rs2098124760
|
|
NM_001164508.2(NEB):c.11515T>C (p.Tyr3839His)
|
|
|
NM_001164508.2(NEB):c.11516A>G (p.Tyr3839Cys)
|
|
|
NM_001164508.2(NEB):c.1152+6T>C
|
|
|
NM_001164508.2(NEB):c.1153-12T>G
|
|
|
NM_001164508.2(NEB):c.1153-18A>G
|
|
|
NM_001164508.2(NEB):c.11581G>A (p.Ala3861Thr)
|
|
|
NM_001164508.2(NEB):c.11585A>G (p.Tyr3862Cys)
|
|
|
NM_001164508.2(NEB):c.11612A>C (p.Lys3871Thr)
|
|
|
NM_001164508.2(NEB):c.11612A>T (p.Lys3871Ile)
|
|
|
NM_001164508.2(NEB):c.11621T>C (p.Leu3874Pro)
|
rs1131691534
|
|
NM_001164508.2(NEB):c.1162A>G (p.Lys388Glu)
|
rs1159204491
|
|
NM_001164508.2(NEB):c.11636G>A (p.Gly3879Asp)
|
rs199766288
|
|
NM_001164508.2(NEB):c.11654T>A (p.Ile3885Asn)
|
rs1367960856
|
|
NM_001164508.2(NEB):c.11668G>T (p.Val3890Phe)
|
|
|
NM_001164508.2(NEB):c.11686G>C (p.Ala3896Pro)
|
|
|
NM_001164508.2(NEB):c.11690G>A (p.Gly3897Glu)
|
rs777129630
|
|
NM_001164508.2(NEB):c.1169A>G (p.Asn390Ser)
|
|
|
NM_001164508.2(NEB):c.11708G>A (p.Arg3903Lys)
|
rs2098010006
|
|
NM_001164508.2(NEB):c.11730C>G (p.Asp3910Glu)
|
|
|
NM_001164508.2(NEB):c.11756A>G (p.Asp3919Gly)
|
rs2098007899
|
|
NM_001164508.2(NEB):c.11836A>G (p.Lys3946Glu)
|
|
|
NM_001164508.2(NEB):c.11873T>C (p.Ile3958Thr)
|
|
|
NM_001164508.2(NEB):c.11890A>G (p.Asn3964Asp)
|
|
|
NM_001164508.2(NEB):c.11891A>T (p.Asn3964Ile)
|
rs1560398552
|
|
NM_001164508.2(NEB):c.11902A>G (p.Ile3968Val)
|
|
|
NM_001164508.2(NEB):c.11910+3A>G
|
rs2097920067
|
|
NM_001164508.2(NEB):c.11911-12T>G
|
rs2153974946
|
|
NM_001164508.2(NEB):c.11911-16A>G
|
|
|
NM_001164508.2(NEB):c.11911A>G (p.Lys3971Glu)
|
rs762228870
|
|
NM_001164508.2(NEB):c.11932G>T (p.Asp3978Tyr)
|
rs2097912400
|
|
NM_001164508.2(NEB):c.11949_11957dup (p.Tyr3985_Asp3986insGluAspTyr)
|
rs753048510
|
|
NM_001164508.2(NEB):c.11977T>C (p.Ser3993Pro)
|
rs2153974640
|
|
NM_001164508.2(NEB):c.11980A>G (p.Ile3994Val)
|
rs751650751
|
|
NM_001164508.2(NEB):c.12010G>C (p.Ala4004Pro)
|
|
|
NM_001164508.2(NEB):c.12013A>T (p.Ser4005Cys)
|
|
|
NM_001164508.2(NEB):c.12018C>T (p.Asp4006=)
|
|
|
NM_001164508.2(NEB):c.12019-9G>A
|
|
|
NM_001164508.2(NEB):c.12020A>C (p.Tyr4007Ser)
|
rs758528247
|
|
NM_001164508.2(NEB):c.12020A>G (p.Tyr4007Cys)
|
rs758528247
|
|
NM_001164508.2(NEB):c.12041A>G (p.Glu4014Gly)
|
rs2153972362
|
|
NM_001164508.2(NEB):c.1204T>G (p.Cys402Gly)
|
|
|
NM_001164508.2(NEB):c.12072G>T (p.Gln4024His)
|
|
|
NM_001164508.2(NEB):c.12080A>G (p.Glu4027Gly)
|
rs1188050770
|
|
NM_001164508.2(NEB):c.12082G>A (p.Asp4028Asn)
|
rs2153972179
|
|
NM_001164508.2(NEB):c.1209G>T (p.Glu403Asp)
|
rs1576715880
|
|
NM_001164508.2(NEB):c.12100T>A (p.Cys4034Ser)
|
rs973939120
|
|
NM_001164508.2(NEB):c.12137A>G (p.Glu4046Gly)
|
|
|
NM_001164508.2(NEB):c.12151T>C (p.Phe4051Leu)
|
|
|
NM_001164508.2(NEB):c.12158A>C (p.Lys4053Thr)
|
|
|
NM_001164508.2(NEB):c.12185T>C (p.Val4062Ala)
|
|
|
NM_001164508.2(NEB):c.12206T>C (p.Leu4069Pro)
|
|
|
NM_001164508.2(NEB):c.12218G>A (p.Cys4073Tyr)
|
|
|
NM_001164508.2(NEB):c.12218G>C (p.Cys4073Ser)
|
rs1316221324
|
|
NM_001164508.2(NEB):c.12221A>T (p.Gln4074Leu)
|
rs1257852959
|
|
NM_001164508.2(NEB):c.12244T>C (p.Tyr4082His)
|
|
|
NM_001164508.2(NEB):c.12251A>G (p.Asn4084Ser)
|
rs761668198
|
|
NM_001164508.2(NEB):c.12262G>C (p.Glu4088Gln)
|
|
|
NM_001164508.2(NEB):c.12274A>G (p.Met4092Val)
|
|
|
NM_001164508.2(NEB):c.12275T>G (p.Met4092Arg)
|
|
|
NM_001164508.2(NEB):c.12278C>G (p.Pro4093Arg)
|
rs749270501
|
|
NM_001164508.2(NEB):c.12288C>A (p.Asn4096Lys)
|
rs755521679
|
|
NM_001164508.2(NEB):c.12297C>G (p.Ile4099Met)
|
rs1442726188
|
|
NM_001164508.2(NEB):c.1229A>C (p.Asp410Ala)
|
rs1576715183
|
|
NM_001164508.2(NEB):c.12304A>C (p.Lys4102Gln)
|
rs2153971169
|
|
NM_001164508.2(NEB):c.12310G>A (p.Ala4104Thr)
|
|
|
NM_001164508.2(NEB):c.12311C>T (p.Ala4104Val)
|
|
|
NM_001164508.2(NEB):c.12312C>G (p.Ala4104=)
|
|
|
NM_001164508.2(NEB):c.12314A>G (p.Tyr4105Cys)
|
|
|
NM_001164508.2(NEB):c.1231A>T (p.Thr411Ser)
|
rs2099605512
|
|
NM_001164508.2(NEB):c.12326G>C (p.Ser4109Thr)
|
|
|
NM_001164508.2(NEB):c.12369C>G (p.Ile4123Met)
|
rs1277282343
|
|
NM_001164508.2(NEB):c.12370G>A (p.Gly4124Ser)
|
rs1227592399
|
|
NM_001164508.2(NEB):c.12382G>A (p.Glu4128Lys)
|
rs1553877949
|
|
NM_001164508.2(NEB):c.12395A>G (p.Glu4132Gly)
|
rs1553877904
|
|
NM_001164508.2(NEB):c.12406G>A (p.Val4136Met)
|
rs1553877868
|
|
NM_001164508.2(NEB):c.12407T>G (p.Val4136Gly)
|
rs1553877860
|
|
NM_001164508.2(NEB):c.12413T>G (p.Val4138Gly)
|
rs1553877811
|
|
NM_001164508.2(NEB):c.12443A>G (p.Tyr4148Cys)
|
rs1553877721
|
|
NM_001164508.2(NEB):c.12490C>T (p.Pro4164Ser)
|
rs1553877565
|
|
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys)
|
rs1553877493
|
|
NM_001164508.2(NEB):c.12534+3A>C
|
|
|
NM_001164508.2(NEB):c.12534+3A>G
|
rs2097772131
|
|
NM_001164508.2(NEB):c.12535-3C>T
|
rs2153958050
|
|
NM_001164508.2(NEB):c.12550G>A (p.Ala4184Thr)
|
rs1553877049
|
|
NM_001164508.2(NEB):c.1257+3A>G
|
|
|
NM_001164508.2(NEB):c.12601A>T (p.Met4201Leu)
|
rs1553876833
|
|
NM_001164508.2(NEB):c.12639+4A>G
|
|
|
NM_001164508.2(NEB):c.12662A>G (p.Asn4221Ser)
|
rs1553875590
|
|
NM_001164508.2(NEB):c.1267A>G (p.Lys423Glu)
|
rs2099604411
|
|
NM_001164508.2(NEB):c.12686A>G (p.Asp4229Gly)
|
rs1553875409
|
|
NM_001164508.2(NEB):c.1273T>G (p.Ser425Ala)
|
rs1270235018
|
|
NM_001164508.2(NEB):c.12747+5G>A
|
rs1251007091
|
|
NM_001164508.2(NEB):c.127G>C (p.Glu43Gln)
|
rs1578040162
|
|
NM_001164508.2(NEB):c.12800G>A (p.Arg4267His)
|
rs1049044616
|
|
NM_001164508.2(NEB):c.12808C>A (p.Gln4270Lys)
|
rs1057524648
|
|
NM_001164508.2(NEB):c.128A>C (p.Glu43Ala)
|
rs752660824
|
|
NM_001164508.2(NEB):c.12902A>T (p.His4301Leu)
|
rs1553872062
|
|
NM_001164508.2(NEB):c.12911C>T (p.Pro4304Leu)
|
rs1456001729
|
|
NM_001164508.2(NEB):c.12922A>G (p.Met4308Val)
|
rs1553871982
|
|
NM_001164508.2(NEB):c.1293G>A (p.Leu431=)
|
|
|
NM_001164508.2(NEB):c.12977G>A (p.Arg4326His)
|
rs1429486273
|
|
NM_001164508.2(NEB):c.129G>T (p.Glu43Asp)
|
rs1290183134
|
|
NM_001164508.2(NEB):c.1303G>T (p.Val435Leu)
|
rs763255052
|
|
NM_001164508.2(NEB):c.13052A>G (p.Gln4351Arg)
|
rs1553871396
|
|
NM_001164508.2(NEB):c.13056C>A (p.Ser4352Arg)
|
rs1468240932
|
|
NM_001164508.2(NEB):c.13059+5G>A
|
|
|
NM_001164508.2(NEB):c.1310G>A (p.Ser437Asn)
|
rs1466400136
|
|
NM_001164508.2(NEB):c.1315G>C (p.Glu439Gln)
|
|
|
NM_001164508.2(NEB):c.13263+4A>G
|
rs2097566924
|
|
NM_001164508.2(NEB):c.13263+8C>T
|
rs1553866957
|
|
NM_001164508.2(NEB):c.1333C>T (p.His445Tyr)
|
rs771832822
|
|
NM_001164508.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser)
|
rs1553865895
|
|
NM_001164508.2(NEB):c.13368+6A>G
|
rs886038433
|
|
NM_001164508.2(NEB):c.13369-14CT[2]
|
rs1553865749
|
|
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr)
|
rs1057521174
|
|
NM_001164508.2(NEB):c.13406C>T (p.Thr4469Ile)
|
rs1192545815
|
|
NM_001164508.2(NEB):c.13456T>A (p.Ser4486Thr)
|
rs886038434
|
|
NM_001164508.2(NEB):c.13460G>T (p.Arg4487Met)
|
rs1553865625
|
|
NM_001164508.2(NEB):c.13465A>C (p.Ile4489Leu)
|
rs1553865611
|
|
NM_001164508.2(NEB):c.13466T>C (p.Ile4489Thr)
|
rs1433188091
|
|
NM_001164508.2(NEB):c.13475_13476delinsTT (p.Asp4492Val)
|
rs1553865579
|
|
NM_001164508.2(NEB):c.13476+6A>C
|
|
|
NM_001164508.2(NEB):c.13520T>C (p.Ile4507Thr)
|
rs1553862732
|
|
NM_001164508.2(NEB):c.13651G>A (p.Val4551Met)
|
rs1553862399
|
|
NM_001164508.2(NEB):c.1366-17A>G
|
|
|
NM_001164508.2(NEB):c.1366-3T>C
|
|
|
NM_001164508.2(NEB):c.13670A>G (p.Lys4557Arg)
|
|
|
NM_001164508.2(NEB):c.13680G>C (p.Gln4560His)
|
rs886038439
|
|
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His)
|
rs1216367965
|
|
NM_001164508.2(NEB):c.13717C>T (p.His4573Tyr)
|
rs1553862206
|
|
NM_001164508.2(NEB):c.13719_13721delinsTCG (p.His4574Arg)
|
rs2153902861
|
|
NM_001164508.2(NEB):c.1372T>C (p.Tyr458His)
|
rs2149353691
|
|
NM_001164508.2(NEB):c.13753A>G (p.Ile4585Val)
|
rs886038440
|
|
NM_001164508.2(NEB):c.13754T>C (p.Ile4585Thr)
|
rs1553862132
|
|
NM_001164508.2(NEB):c.13788+2dup
|
rs2153902530
|
|
NM_001164508.2(NEB):c.1396A>G (p.Arg466Gly)
|
|
|
NM_001164508.2(NEB):c.1405G>T (p.Gly469Cys)
|
|
|
NM_001164508.2(NEB):c.1406G>C (p.Gly469Ala)
|
|
|
NM_001164508.2(NEB):c.1419G>T (p.Gln473His)
|
rs761722604
|
|
NM_001164508.2(NEB):c.1444A>G (p.Ile482Val)
|
rs945055152
|
|
NM_001164508.2(NEB):c.1461G>T (p.Gln487His)
|
|
|
NM_001164508.2(NEB):c.1462T>A (p.Cys488Ser)
|
rs749228422
|
|
NM_001164508.2(NEB):c.1471-3C>T
|
|
|
NM_001164508.2(NEB):c.1531C>G (p.Leu511Val)
|
|
|
NM_001164508.2(NEB):c.1535T>A (p.Leu512Gln)
|
rs2099599001
|
|
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1])
|
rs757726895
|
|
NM_001164508.2(NEB):c.1545A>C (p.Gln515His)
|
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3])
|
rs377452683
|
|
NM_001164508.2(NEB):c.155T>G (p.Leu52Arg)
|
|
|
NM_001164508.2(NEB):c.1569+3A>T
|
rs1576671314
|
|
NM_001164508.2(NEB):c.1570-13C>T
|
|
|
NM_001164508.2(NEB):c.1580A>G (p.Lys527Arg)
|
rs773132178
|
|
NM_001164508.2(NEB):c.1618C>G (p.Pro540Ala)
|
rs1271816542
|
|
NM_001164508.2(NEB):c.1624G>T (p.Asp542Tyr)
|
|
|
NM_001164508.2(NEB):c.1654A>G (p.Asn552Asp)
|
rs2099590400
|
|
NM_001164508.2(NEB):c.16708C>T (p.Leu5570Phe)
|
|
|
NM_001164508.2(NEB):c.16725G>T (p.Leu5575Phe)
|
rs2153808846
|
|
NM_001164508.2(NEB):c.16736G>A (p.Arg5579His)
|
|
|
NM_001164508.2(NEB):c.1674+3A>C
|
rs2099590253
|
|
NM_001164508.2(NEB):c.16765C>T (p.Pro5589Ser)
|
rs1490534583
|
|
NM_001164508.2(NEB):c.16780G>A (p.Val5594Ile)
|
|
|
NM_001164508.2(NEB):c.16789G>A (p.Ala5597Thr)
|
rs749713442
|
|
NM_001164508.2(NEB):c.16789G>T (p.Ala5597Ser)
|
rs749713442
|
|
NM_001164508.2(NEB):c.16792C>A (p.Gln5598Lys)
|
|
|
NM_001164508.2(NEB):c.16837C>G (p.Leu5613Val)
|
|
|
NM_001164508.2(NEB):c.1684A>G (p.Lys562Glu)
|
|
|
NM_001164508.2(NEB):c.16908+3_16908+6del
|
|
|
NM_001164508.2(NEB):c.16932C>A (p.Asp5644Glu)
|
|
|
NM_001164508.2(NEB):c.16949T>C (p.Ile5650Thr)
|
rs202009284
|
|
NM_001164508.2(NEB):c.1696G>A (p.Glu566Lys)
|
|
|
NM_001164508.2(NEB):c.16991C>A (p.Ala5664Glu)
|
|
|
NM_001164508.2(NEB):c.16994A>C (p.Asn5665Thr)
|
rs2153806253
|
|
NM_001164508.2(NEB):c.1700A>T (p.Lys567Met)
|
rs1360278350
|
|
NM_001164508.2(NEB):c.17012A>G (p.Asn5671Ser)
|
rs1390168520
|
|
NM_001164508.2(NEB):c.17018T>G (p.Leu5673Arg)
|
rs2096589517
|
|
NM_001164508.2(NEB):c.17023C>G (p.Arg5675Gly)
|
rs547231033
|
|
NM_001164508.2(NEB):c.17038G>A (p.Glu5680Lys)
|
|
|
NM_001164508.2(NEB):c.17047G>A (p.Ala5683Thr)
|
|
|
NM_001164508.2(NEB):c.17054G>C (p.Cys5685Ser)
|
|
|
NM_001164508.2(NEB):c.17063G>T (p.Arg5688Leu)
|
|
|
NM_001164508.2(NEB):c.17069A>G (p.Asp5690Gly)
|
|
|
NM_001164508.2(NEB):c.17078C>T (p.Pro5693Leu)
|
rs2096588016
|
|
NM_001164508.2(NEB):c.17118+15_17118+16del
|
|
|
NM_001164508.2(NEB):c.17118C>A (p.Asp5706Glu)
|
rs769476760
|
|
NM_001164508.2(NEB):c.17119-21_17119-5del
|
rs2153759284
|
|
NM_001164508.2(NEB):c.17173A>C (p.Thr5725Pro)
|
rs2096580140
|
|
NM_001164508.2(NEB):c.17183A>G (p.Asp5728Gly)
|
rs756098317
|
|
NM_001164508.2(NEB):c.17188A>G (p.Asn5730Asp)
|
|
|
NM_001164508.2(NEB):c.17189A>G (p.Asn5730Ser)
|
|
|
NM_001164508.2(NEB):c.17198G>T (p.Arg5733Leu)
|
rs371681892
|
|
NM_001164508.2(NEB):c.17228A>G (p.Asn5743Ser)
|
rs1022255644
|
|
NM_001164508.2(NEB):c.17234G>A (p.Arg5745Gln)
|
rs773556106
|
|
NM_001164508.2(NEB):c.1724T>C (p.Ile575Thr)
|
|
|
NM_001164508.2(NEB):c.17251T>G (p.Trp5751Gly)
|
rs2096578090
|
|
NM_001164508.2(NEB):c.17258A>G (p.Lys5753Arg)
|
rs2153754800
|
|
NM_001164508.2(NEB):c.17277G>C (p.Gln5759His)
|
|
|
NM_001164508.2(NEB):c.17281C>G (p.Pro5761Ala)
|
rs2153753928
|
|
NM_001164508.2(NEB):c.17297C>T (p.Ser5766Phe)
|
rs745836611
|
|
NM_001164508.2(NEB):c.1729G>A (p.Val577Met)
|
rs1419317928
|
|
NM_001164508.2(NEB):c.17333G>A (p.Ser5778Asn)
|
rs2153752911
|
|
NM_001164508.2(NEB):c.17341G>C (p.Asp5781His)
|
rs897368602
|
|
NM_001164508.2(NEB):c.17341G>T (p.Asp5781Tyr)
|
|
|
NM_001164508.2(NEB):c.17348G>A (p.Arg5783His)
|
|
|
NM_001164508.2(NEB):c.17367G>C (p.Trp5789Cys)
|
|
|
NM_001164508.2(NEB):c.17373C>T (p.Cys5791=)
|
|
|
NM_001164508.2(NEB):c.17377C>T (p.Pro5793Ser)
|
|
|
NM_001164508.2(NEB):c.17396T>C (p.Ile5799Thr)
|
rs1262861131
|
|
NM_001164508.2(NEB):c.17404AAG[1] (p.Lys5803del)
|
rs1553787578
|
|
NM_001164508.2(NEB):c.17408A>C (p.Lys5803Thr)
|
|
|
NM_001164508.2(NEB):c.1741C>T (p.Pro581Ser)
|
|
|
NM_001164508.2(NEB):c.17452G>C (p.Glu5818Gln)
|
rs1193153766
|
|
NM_001164508.2(NEB):c.17468T>C (p.Ile5823Thr)
|
rs768866431
|
|
NM_001164508.2(NEB):c.17479C>T (p.Pro5827Ser)
|
rs1560050173
|
|
NM_001164508.2(NEB):c.17498T>C (p.Val5833Ala)
|
|
|
NM_001164508.2(NEB):c.1750G>T (p.Ala584Ser)
|
|
|
NM_001164508.2(NEB):c.17535+3A>G
|
rs1553784210
|
|
NM_001164508.2(NEB):c.17536-3T>C
|
|
|
NM_001164508.2(NEB):c.17543A>G (p.Tyr5848Cys)
|
rs1577949283
|
|
NM_001164508.2(NEB):c.17546G>T (p.Arg5849Leu)
|
|
|
NM_001164508.2(NEB):c.1754C>T (p.Ala585Val)
|
rs2099581852
|
|
NM_001164508.2(NEB):c.1756A>G (p.Lys586Glu)
|
rs1576598655
|
|
NM_001164508.2(NEB):c.175C>G (p.Gln59Glu)
|
rs867732907
|
|
NM_001164508.2(NEB):c.17608A>C (p.Lys5870Gln)
|
|
|
NM_001164508.2(NEB):c.17627T>C (p.Leu5876Pro)
|
rs1181510782
|
|
NM_001164508.2(NEB):c.17629G>T (p.Asp5877Tyr)
|
|
|
NM_001164508.2(NEB):c.17635-16_17635-14del
|
rs2153745540
|
|
NM_001164508.2(NEB):c.17635-17C>G
|
|
|
NM_001164508.2(NEB):c.1763A>G (p.Asn588Ser)
|
rs2099581808
|
|
NM_001164508.2(NEB):c.17647A>C (p.Lys5883Gln)
|
|
|
NM_001164508.2(NEB):c.17648A>G (p.Lys5883Arg)
|
|
|
NM_001164508.2(NEB):c.17678C>A (p.Thr5893Asn)
|
|
|
NM_001164508.2(NEB):c.17681T>A (p.Leu5894His)
|
rs201072996
|
|
NM_001164508.2(NEB):c.17681T>G (p.Leu5894Arg)
|
|
|
NM_001164508.2(NEB):c.17690C>G (p.Thr5897Ser)
|
|
|
NM_001164508.2(NEB):c.17705C>T (p.Thr5902Ile)
|
|
|
NM_001164508.2(NEB):c.17708C>T (p.Ala5903Val)
|
rs2153745118
|
|
NM_001164508.2(NEB):c.17724G>C (p.Arg5908Ser)
|
|
|
NM_001164508.2(NEB):c.17744A>G (p.Tyr5915Cys)
|
|
|
NM_001164508.2(NEB):c.17789C>T (p.Pro5930Leu)
|
|
|
NM_001164508.2(NEB):c.1778G>A (p.Ser593Asn)
|
rs2099581746
|
|
NM_001164508.2(NEB):c.177G>C (p.Gln59His)
|
rs200990309
|
|
NM_001164508.2(NEB):c.1780G>A (p.Asp594Asn)
|
|
|
NM_001164508.2(NEB):c.1781A>T (p.Asp594Val)
|
|
|
NM_001164508.2(NEB):c.1782+4_1782+5del
|
rs398124168
|
|
NM_001164508.2(NEB):c.1782+5G>A
|
|
|
NM_001164508.2(NEB):c.17842G>A (p.Glu5948Lys)
|
|
|
NM_001164508.2(NEB):c.17845-11C>A
|
|
|
NM_001164508.2(NEB):c.17845-3C>G
|
rs2153740439
|
|
NM_001164508.2(NEB):c.17848A>G (p.Lys5950Glu)
|
|
|
NM_001164508.2(NEB):c.17865T>G (p.His5955Gln)
|
rs1394078245
|
|
NM_001164508.2(NEB):c.17872C>A (p.Gln5958Lys)
|
|
|
NM_001164508.2(NEB):c.17896C>G (p.Pro5966Ala)
|
rs2096453351
|
|
NM_001164508.2(NEB):c.17903T>A (p.Met5968Lys)
|
|
|
NM_001164508.2(NEB):c.17914C>T (p.Pro5972Ser)
|
|
|
NM_001164508.2(NEB):c.17915C>A (p.Pro5972His)
|
rs4327235
|
|
NM_001164508.2(NEB):c.17915C>T (p.Pro5972Leu)
|
rs4327235
|
|
NM_001164508.2(NEB):c.17939C>A (p.Ala5980Glu)
|
rs143582290
|
|
NM_001164508.2(NEB):c.17942G>T (p.Gly5981Val)
|
|
|
NM_001164508.2(NEB):c.17948T>G (p.Ile5983Ser)
|
|
|
NM_001164508.2(NEB):c.17965T>A (p.Tyr5989Asn)
|
rs752113075
|
|
NM_001164508.2(NEB):c.17980C>G (p.His5994Asp)
|
rs764985237
|
|
NM_001164508.2(NEB):c.17999T>A (p.Ile6000Asn)
|
|
|
NM_001164508.2(NEB):c.18008C>G (p.Pro6003Arg)
|
rs2096449520
|
|
NM_001164508.2(NEB):c.1800C>A (p.Asp600Glu)
|
|
|
NM_001164508.2(NEB):c.18037A>C (p.Lys6013Gln)
|
rs2096448727
|
|
NM_001164508.2(NEB):c.18070T>G (p.Tyr6024Asp)
|
|
|
NM_001164508.2(NEB):c.18080A>G (p.Tyr6027Cys)
|
|
|
NM_001164508.2(NEB):c.18096G>A (p.Met6032Ile)
|
rs764679933
|
|
NM_001164508.2(NEB):c.18106G>C (p.Asp6036His)
|
|
|
NM_001164508.2(NEB):c.18110A>G (p.Gln6037Arg)
|
|
|
NM_001164508.2(NEB):c.18122T>C (p.Ile6041Thr)
|
rs2096445948
|
|
NM_001164508.2(NEB):c.18127G>A (p.Ala6043Thr)
|
rs1553775860
|
|
NM_001164508.2(NEB):c.1812C>A (p.Asn604Lys)
|
rs772151546
|
|
NM_001164508.2(NEB):c.18136G>C (p.Ala6046Pro)
|
rs2096445433
|
|
NM_001164508.2(NEB):c.18149A>C (p.Gln6050Pro)
|
|
|
NM_001164508.2(NEB):c.18149A>G (p.Gln6050Arg)
|
|
|
NM_001164508.2(NEB):c.18152G>A (p.Ser6051Asn)
|
rs1577885822
|
|
NM_001164508.2(NEB):c.18160G>A (p.Val6054Ile)
|
rs975134897
|
|
NM_001164508.2(NEB):c.18188G>A (p.Arg6063Gln)
|
|
|
NM_001164508.2(NEB):c.18194T>C (p.Ile6065Thr)
|
|
|
NM_001164508.2(NEB):c.1824G>A (p.Met608Ile)
|
|
|
NM_001164508.2(NEB):c.18261+19_18261+21del
|
rs1319324645
|
|
NM_001164508.2(NEB):c.18261+4C>G
|
rs757739475
|
|
NM_001164508.2(NEB):c.18261+4C>T
|
|
|
NM_001164508.2(NEB):c.18261+5G>A
|
rs375167899
|
|
NM_001164508.2(NEB):c.18262-3C>T
|
|
|
NM_001164508.2(NEB):c.182C>G (p.Ala61Gly)
|
rs2099795617
|
|
NM_001164508.2(NEB):c.18302T>C (p.Phe6101Ser)
|
rs2153729845
|
|
NM_001164508.2(NEB):c.18310G>C (p.Val6104Leu)
|
rs1253544291
|
|
NM_001164508.2(NEB):c.18310G>T (p.Val6104Leu)
|
|
|
NM_001164508.2(NEB):c.18314T>C (p.Val6105Ala)
|
rs2096324310
|
|
NM_001164508.2(NEB):c.18327G>T (p.Glu6109Asp)
|
rs2096323303
|
|
NM_001164508.2(NEB):c.18374A>G (p.Tyr6125Cys)
|
rs2096294914
|
|
NM_001164508.2(NEB):c.18406T>C (p.Tyr6136His)
|
|
|
NM_001164508.2(NEB):c.18407A>G (p.Tyr6136Cys)
|
|
|
NM_001164508.2(NEB):c.18422A>T (p.Asp6141Val)
|
|
|
NM_001164508.2(NEB):c.18425C>A (p.Thr6142Lys)
|
rs377179553
|
|
NM_001164508.2(NEB):c.18436T>C (p.Ser6146Pro)
|
rs1231291915
|
|
NM_001164508.2(NEB):c.18496G>A (p.Gly6166Ser)
|
rs1239862833
|
|
NM_001164508.2(NEB):c.1849G>A (p.Asp617Asn)
|
|
|
NM_001164508.2(NEB):c.18515A>G (p.Tyr6172Cys)
|
|
|
NM_001164508.2(NEB):c.18517A>C (p.Thr6173Pro)
|
|
|
NM_001164508.2(NEB):c.18523G>A (p.Asp6175Asn)
|
|
|
NM_001164508.2(NEB):c.18538C>T (p.Pro6180Ser)
|
|
|
NM_001164508.2(NEB):c.18541A>T (p.Ile6181Phe)
|
|
|
NM_001164508.2(NEB):c.18559G>A (p.Ala6187Thr)
|
rs994460843
|
|
NM_001164508.2(NEB):c.18572A>G (p.Asn6191Ser)
|
rs2096236392
|
|
NM_001164508.2(NEB):c.18575G>C (p.Ser6192Thr)
|
|
|
NM_001164508.2(NEB):c.18580-19T>C
|
|
|
NM_001164508.2(NEB):c.18596C>T (p.Thr6199Ile)
|
rs1331648772
|
|
NM_001164508.2(NEB):c.18603G>C (p.Glu6201Asp)
|
|
|
NM_001164508.2(NEB):c.18656T>G (p.Val6219Gly)
|
rs753261774
|
|
NM_001164508.2(NEB):c.18683T>A (p.Met6228Lys)
|
|
|
NM_001164508.2(NEB):c.18693+5G>C
|
rs377482159
|
|
NM_001164508.2(NEB):c.18694-6_18694-2del
|
rs1377029367
|
|
NM_001164508.2(NEB):c.18701A>G (p.Tyr6234Cys)
|
|
|
NM_001164508.2(NEB):c.18724A>G (p.Lys6242Glu)
|
rs886054937
|
|
NM_001164508.2(NEB):c.1874A>C (p.Lys625Thr)
|
|
|
NM_001164508.2(NEB):c.18751A>G (p.Met6251Val)
|
|
|
NM_001164508.2(NEB):c.18763G>T (p.Val6255Leu)
|
rs781706876
|
|
NM_001164508.2(NEB):c.18787A>G (p.Ile6263Val)
|
|
|
NM_001164508.2(NEB):c.18804G>C (p.Glu6268Asp)
|
|
|
NM_001164508.2(NEB):c.18814T>C (p.Tyr6272His)
|
rs921387109
|
|
NM_001164508.2(NEB):c.18823C>A (p.Gln6275Lys)
|
|
|
NM_001164508.2(NEB):c.1883A>C (p.Lys628Thr)
|
rs1176664285
|
|
NM_001164508.2(NEB):c.1883A>G (p.Lys628Arg)
|
rs1176664285
|
|
NM_001164508.2(NEB):c.18847C>T (p.Pro6283Ser)
|
|
|
NM_001164508.2(NEB):c.18862G>T (p.Val6288Phe)
|
|
|
NM_001164508.2(NEB):c.18872C>T (p.Ala6291Val)
|
|
|
NM_001164508.2(NEB):c.18892-15CT[2]
|
|
|
NM_001164508.2(NEB):c.18893A>G (p.Asn6298Ser)
|
rs781054657
|
|
NM_001164508.2(NEB):c.18893A>T (p.Asn6298Ile)
|
|
|
NM_001164508.2(NEB):c.18908A>C (p.Asp6303Ala)
|
|
|
NM_001164508.2(NEB):c.18909C>A (p.Asp6303Glu)
|
|
|
NM_001164508.2(NEB):c.18918G>T (p.Trp6306Cys)
|
rs1559952676
|
|
NM_001164508.2(NEB):c.18940G>A (p.Val6314Ile)
|
rs764044045
|
|
NM_001164508.2(NEB):c.1896+4_1896+5del
|
|
|
NM_001164508.2(NEB):c.18962T>A (p.Leu6321His)
|
|
|
NM_001164508.2(NEB):c.19001A>T (p.Gln6334Leu)
|
|
|
NM_001164508.2(NEB):c.19016G>A (p.Gly6339Asp)
|
|
|
NM_001164508.2(NEB):c.19030C>A (p.Gln6344Lys)
|
|
|
NM_001164508.2(NEB):c.19064A>G (p.Tyr6355Cys)
|
rs968608271
|
|
NM_001164508.2(NEB):c.19075G>C (p.Val6359Leu)
|
|
|
NM_001164508.2(NEB):c.19092T>A (p.Asn6364Lys)
|
rs2096022022
|
|
NM_001164508.2(NEB):c.19097G>A (p.Ser6366Asn)
|
rs191579691
|
|
NM_001164508.2(NEB):c.19102-10_19102-4del
|
rs1577576425
|
|
NM_001164508.2(NEB):c.19102G>A (p.Val6368Ile)
|
|
|
NM_001164508.2(NEB):c.19144A>G (p.Thr6382Ala)
|
|
|
NM_001164508.2(NEB):c.1916A>G (p.Tyr639Cys)
|
rs1559315113
|
|
NM_001164508.2(NEB):c.19206+17T>C
|
|
|
NM_001164508.2(NEB):c.19207-20_19207-18del
|
rs768751352
|
|
NM_001164508.2(NEB):c.19211T>C (p.Leu6404Pro)
|
|
|
NM_001164508.2(NEB):c.19223C>T (p.Ala6408Val)
|
|
|
NM_001164508.2(NEB):c.19234G>T (p.Val6412Leu)
|
rs2095980616
|
|
NM_001164508.2(NEB):c.1925C>A (p.Thr642Lys)
|
|
|
NM_001164508.2(NEB):c.19284C>G (p.His6428Gln)
|
rs201005449
|
|
NM_001164508.2(NEB):c.19286C>T (p.Ala6429Val)
|
|
|
NM_001164508.2(NEB):c.19301A>C (p.His6434Pro)
|
rs1577553776
|
|
NM_001164508.2(NEB):c.19315-3T>C
|
rs756491764
|
|
NM_001164508.2(NEB):c.19337A>G (p.Glu6446Gly)
|
rs2153666324
|
|
NM_001164508.2(NEB):c.19357A>G (p.Thr6453Ala)
|
rs968182845
|
|
NM_001164508.2(NEB):c.19382_19383delinsTG (p.Asp6461Val)
|
|
|
NM_001164508.2(NEB):c.19400G>C (p.Cys6467Ser)
|
rs1577306997
|
|
NM_001164508.2(NEB):c.19406G>C (p.Arg6469Pro)
|
rs556624010
|
|
NM_001164508.2(NEB):c.19429C>A (p.Arg6477Ser)
|
|
|
NM_001164508.2(NEB):c.19429C>T (p.Arg6477Cys)
|
rs765181095
|
|
NM_001164508.2(NEB):c.1948T>C (p.Cys650Arg)
|
|
|
NM_001164508.2(NEB):c.19495A>G (p.Met6499Val)
|
rs2095482134
|
|
NM_001164508.2(NEB):c.19499T>G (p.Val6500Gly)
|
|
|
NM_001164508.2(NEB):c.1949G>A (p.Cys650Tyr)
|
|
|
NM_001164508.2(NEB):c.19529G>A (p.Ser6510Asn)
|
|
|
NM_001164508.2(NEB):c.1952A>T (p.Glu651Val)
|
rs1553592436
|
|
NM_001164508.2(NEB):c.19534A>G (p.Ile6512Val)
|
rs2095480638
|
|
NM_001164508.2(NEB):c.19583A>C (p.Gln6528Pro)
|
rs2153660026
|
|
NM_001164508.2(NEB):c.19583A>G (p.Gln6528Arg)
|
|
|
NM_001164508.2(NEB):c.19603A>G (p.Lys6535Glu)
|
rs898837153
|
|
NM_001164508.2(NEB):c.19624_19625insGTA (p.Asp6542delinsGlyAsn)
|
rs2153659819
|
|
NM_001164508.2(NEB):c.19626+13C>T
|
|
|
NM_001164508.2(NEB):c.19724G>T (p.Arg6575Leu)
|
rs185999504
|
|
NM_001164508.2(NEB):c.19728T>A (p.Asp6576Glu)
|
|
|
NM_001164508.2(NEB):c.19729G>A (p.Asp6577Asn)
|
rs2095448833
|
|
NM_001164508.2(NEB):c.19736A>G (p.Lys6579Arg)
|
|
|
NM_001164508.2(NEB):c.19751T>C (p.Met6584Thr)
|
rs190605644
|
|
NM_001164508.2(NEB):c.19756A>G (p.Lys6586Glu)
|
rs2153653983
|
|
NM_001164508.2(NEB):c.19763G>A (p.Arg6588Lys)
|
|
|
NM_001164508.2(NEB):c.19799A>T (p.Tyr6600Phe)
|
rs2095412773
|
|
NM_001164508.2(NEB):c.19814A>G (p.Lys6605Arg)
|
rs2095412206
|
|
NM_001164508.2(NEB):c.19826A>T (p.Gln6609Leu)
|
rs1553730155
|
|
NM_001164508.2(NEB):c.19836+6T>C
|
rs2153653644
|
|
NM_001164508.2(NEB):c.19868T>G (p.Val6623Gly)
|
|
|
NM_001164508.2(NEB):c.19915G>A (p.Ala6639Thr)
|
rs2095356884
|
|
NM_001164508.2(NEB):c.19916C>A (p.Ala6639Asp)
|
rs2153647567
|
|
NM_001164508.2(NEB):c.19918C>T (p.Leu6640Phe)
|
rs2095356788
|
|
NM_001164508.2(NEB):c.19919T>C (p.Leu6640Pro)
|
|
|
NM_001164508.2(NEB):c.19923T>G (p.His6641Gln)
|
rs773870323
|
|
NM_001164508.2(NEB):c.19934T>G (p.Leu6645Arg)
|
|
|
NM_001164508.2(NEB):c.19944+6_19944+12del
|
rs2153647219
|
|
NM_001164508.2(NEB):c.19945-3C>G
|
rs1206840358
|
|
NM_001164508.2(NEB):c.19976C>G (p.Pro6659Arg)
|
rs2153633083
|
|
NM_001164508.2(NEB):c.20003C>G (p.Thr6668Ser)
|
rs2153632972
|
|
NM_001164508.2(NEB):c.20018A>C (p.His6673Pro)
|
rs763237724
|
|
NM_001164508.2(NEB):c.20021_20023del (p.Ile6674del)
|
rs1577105410
|
|
NM_001164508.2(NEB):c.20038A>G (p.Met6680Val)
|
rs1265237421
|
|
NM_001164508.2(NEB):c.20044A>G (p.Ser6682Gly)
|
|
|
NM_001164508.2(NEB):c.20050-3C>T
|
|
|
NM_001164508.2(NEB):c.20056T>C (p.Tyr6686His)
|
rs2153624429
|
|
NM_001164508.2(NEB):c.20104C>T (p.Pro6702Ser)
|
|
|
NM_001164508.2(NEB):c.20108A>G (p.Lys6703Arg)
|
|
|
NM_001164508.2(NEB):c.2011G>C (p.Asp671His)
|
|
|
NM_001164508.2(NEB):c.2013C>G (p.Asp671Glu)
|
|
|
NM_001164508.2(NEB):c.20165A>T (p.Tyr6722Phe)
|
rs2153618365
|
|
NM_001164508.2(NEB):c.2017T>C (p.Tyr673His)
|
|
|
NM_001164508.2(NEB):c.20191G>T (p.Asp6731Tyr)
|
|
|
NM_001164508.2(NEB):c.20195A>G (p.Lys6732Arg)
|
|
|
NM_001164508.2(NEB):c.20216C>T (p.Thr6739Ile)
|
|
|
NM_001164508.2(NEB):c.20220T>A (p.Pro6740=)
|
|
|
NM_001164508.2(NEB):c.20241G>T (p.Lys6747Asn)
|
rs2153617719
|
|
NM_001164508.2(NEB):c.20302A>G (p.Met6768Val)
|
rs780579848
|
|
NM_001164508.2(NEB):c.20308T>C (p.Ser6770Pro)
|
|
|
NM_001164508.2(NEB):c.20315C>T (p.Pro6772Leu)
|
rs1559782362
|
|
NM_001164508.2(NEB):c.20323C>T (p.Pro6775Ser)
|
|
|
NM_001164508.2(NEB):c.20327A>G (p.Gln6776Arg)
|
rs1377556613
|
|
NM_001164508.2(NEB):c.20351G>C (p.Gly6784Ala)
|
|
|
NM_001164508.2(NEB):c.20359A>G (p.Thr6787Ala)
|
rs1028441065
|
|
NM_001164508.2(NEB):c.20367+13T>G
|
|
|
NM_001164508.2(NEB):c.20367+3A>G
|
|
|
NM_001164508.2(NEB):c.20368-17C>T
|
|
|
NM_001164508.2(NEB):c.20369T>A (p.Ile6790Asn)
|
|
|
NM_001164508.2(NEB):c.20384A>G (p.Asp6795Gly)
|
|
|
NM_001164508.2(NEB):c.20385C>G (p.Asp6795Glu)
|
rs2153608107
|
|
NM_001164508.2(NEB):c.2038C>A (p.His680Asn)
|
rs773702715
|
|
NM_001164508.2(NEB):c.20401G>A (p.Gly6801Arg)
|
|
|
NM_001164508.2(NEB):c.20407G>A (p.Gly6803Ser)
|
|
|
NM_001164508.2(NEB):c.20437G>T (p.Val6813Phe)
|
|
|
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
|
|
|
NM_001164508.2(NEB):c.20465G>C (p.Trp6822Ser)
|
rs2153607705
|
|
NM_001164508.2(NEB):c.20466+5G>C
|
rs2094687409
|
|
NM_001164508.2(NEB):c.20467-20_20467-19insG
|
|
|
NM_001164508.2(NEB):c.20467-3A>G
|
rs1463738651
|
|
NM_001164508.2(NEB):c.2056G>A (p.Glu686Lys)
|
|
|
NM_001164508.2(NEB):c.20578-18A>G
|
|
|
NM_001164508.2(NEB):c.20578-20A>G
|
rs2153575431
|
|
NM_001164508.2(NEB):c.20591C>T (p.Ala6864Val)
|
|
|
NM_001164508.2(NEB):c.20606A>T (p.Gln6869Leu)
|
|
|
NM_001164508.2(NEB):c.20653G>T (p.Ala6885Ser)
|
rs1201503713
|
|
NM_001164508.2(NEB):c.20670G>C (p.Lys6890Asn)
|
rs768041857
|
|
NM_001164508.2(NEB):c.20692G>A (p.Val6898Ile)
|
|
|
NM_001164508.2(NEB):c.20719C>T (p.His6907Tyr)
|
|
|
NM_001164508.2(NEB):c.20721T>A (p.His6907Gln)
|
rs2093933909
|
|
NM_001164508.2(NEB):c.20728G>T (p.Ala6910Ser)
|
|
|
NM_001164508.2(NEB):c.20752A>C (p.Lys6918Gln)
|
|
|
NM_001164508.2(NEB):c.20755C>T (p.His6919Tyr)
|
rs2093931355
|
|
NM_001164508.2(NEB):c.20765A>T (p.Asp6922Val)
|
rs2093930817
|
|
NM_001164508.2(NEB):c.20776A>G (p.Met6926Val)
|
rs1559707924
|
|
NM_001164508.2(NEB):c.2080A>C (p.Met694Leu)
|
|
|
NM_001164508.2(NEB):c.20822A>G (p.Asp6941Gly)
|
|
|
NM_001164508.2(NEB):c.20827T>C (p.Tyr6943His)
|
|
|
NM_001164508.2(NEB):c.20851A>G (p.Ile6951Val)
|
rs1168345348
|
|
NM_001164508.2(NEB):c.20863G>A (p.Ala6955Thr)
|
rs2153567154
|
|
NM_001164508.2(NEB):c.20892T>A (p.Asp6964Glu)
|
rs1553694845
|
|
NM_001164508.2(NEB):c.20892T>G (p.Asp6964Glu)
|
rs1553694845
|
|
NM_001164508.2(NEB):c.20894T>A (p.Leu6965Gln)
|
rs1239615497
|
|
NM_001164508.2(NEB):c.20906A>T (p.Glu6969Val)
|
rs371680259
|
|
NM_001164508.2(NEB):c.20928G>T (p.Gly6976=)
|
|
|
NM_001164508.2(NEB):c.20933A>G (p.Tyr6978Cys)
|
rs761780939
|
|
NM_001164508.2(NEB):c.20966A>G (p.Tyr6989Cys)
|
|
|
NM_001164508.2(NEB):c.20968C>T (p.His6990Tyr)
|
rs1383294380
|
|
NM_001164508.2(NEB):c.20974A>G (p.Lys6992Glu)
|
|
|
NM_001164508.2(NEB):c.2098A>G (p.Asn700Asp)
|
|
|
NM_001164508.2(NEB):c.21021G>A (p.Met7007Ile)
|
|
|
NM_001164508.2(NEB):c.21037T>G (p.Trp7013Gly)
|
rs2153551039
|
|
NM_001164508.2(NEB):c.21058C>A (p.Pro7020Thr)
|
|
|
NM_001164508.2(NEB):c.2107A>G (p.Lys703Glu)
|
|
|
NM_001164508.2(NEB):c.21094G>C (p.Val7032Leu)
|
|
|
NM_001164508.2(NEB):c.21097A>C (p.Ser7033Arg)
|
|
|
NM_001164508.2(NEB):c.21102+5G>A
|
|
|
NM_001164508.2(NEB):c.21102T>C (p.Asp7034=)
|
rs531711771
|
|
NM_001164508.2(NEB):c.21115G>C (p.Glu7039Gln)
|
|
|
NM_001164508.2(NEB):c.2111G>A (p.Ser704Asn)
|
|
|
NM_001164508.2(NEB):c.21194C>T (p.Thr7065Ile)
|
|
|
NM_001164508.2(NEB):c.21197T>C (p.Leu7066Pro)
|
|
|
NM_001164508.2(NEB):c.21207+4T>C
|
|
|
NM_001164508.2(NEB):c.21207+6T>C
|
|
|
NM_001164508.2(NEB):c.21212A>C (p.Lys7071Thr)
|
|
|
NM_001164508.2(NEB):c.21212A>G (p.Lys7071Arg)
|
rs2093050726
|
|
NM_001164508.2(NEB):c.2122G>A (p.Glu708Lys)
|
rs1553587676
|
|
NM_001164508.2(NEB):c.21245A>G (p.Asp7082Gly)
|
|
|
NM_001164508.2(NEB):c.21246T>G (p.Asp7082Glu)
|
rs2153534764
|
|
NM_001164508.2(NEB):c.21287A>G (p.Lys7096Arg)
|
|
|
NM_001164508.2(NEB):c.2128G>A (p.Glu710Lys)
|
|
|
NM_001164508.2(NEB):c.21296C>G (p.Thr7099Ser)
|
|
|
NM_001164508.2(NEB):c.21329G>A (p.Ser7110Asn)
|
|
|
NM_001164508.2(NEB):c.21344T>C (p.Leu7115Pro)
|
rs1003798007
|
|
NM_001164508.2(NEB):c.21348A>T (p.Gln7116His)
|
|
|
NM_001164508.2(NEB):c.21358A>C (p.Asn7120His)
|
|
|
NM_001164508.2(NEB):c.2136T>G (p.Asp712Glu)
|
rs1359338282
|
|
NM_001164508.2(NEB):c.21392T>C (p.Leu7131Pro)
|
rs2092301005
|
|
NM_001164508.2(NEB):c.21403C>T (p.His7135Tyr)
|
|
|
NM_001164508.2(NEB):c.21411G>C (p.Trp7137Cys)
|
rs1343837039
|
|
NM_001164508.2(NEB):c.21417+3A>T
|
|
|
NM_001164508.2(NEB):c.2141G>A (p.Gly714Glu)
|
|
|
NM_001164508.2(NEB):c.21420C>G (p.Ile7140Met)
|
|
|
NM_001164508.2(NEB):c.21424T>C (p.Tyr7142His)
|
|
|
NM_001164508.2(NEB):c.21435C>A (p.Asn7145Lys)
|
|
|
NM_001164508.2(NEB):c.21454A>G (p.Lys7152Glu)
|
rs2153501624
|
|
NM_001164508.2(NEB):c.21457T>G (p.Phe7153Val)
|
rs2153501601
|
|
NM_001164508.2(NEB):c.21469G>T (p.Val7157Leu)
|
rs1576490497
|
|
NM_001164508.2(NEB):c.21484C>T (p.His7162Tyr)
|
|
|
NM_001164508.2(NEB):c.21490C>A (p.Arg7164Ser)
|
rs771050596
|
|
NM_001164508.2(NEB):c.21491G>C (p.Arg7164Pro)
|
rs16830171
|
|
NM_001164508.2(NEB):c.214A>G (p.Ile72Val)
|
rs1553698165
|
|
NM_001164508.2(NEB):c.21519C>A (p.Ser7173Arg)
|
|
|
NM_001164508.2(NEB):c.21520G>A (p.Asp7174Asn)
|
rs1227689355
|
|
NM_001164508.2(NEB):c.21529T>C (p.Tyr7177His)
|
|
|
NM_001164508.2(NEB):c.21541T>C (p.Tyr7181His)
|
|
|
NM_001164508.2(NEB):c.21546C>A (p.Asn7182Lys)
|
rs149510427
|
|
NM_001164508.2(NEB):c.21560G>C (p.Arg7187Thr)
|
|
|
NM_001164508.2(NEB):c.21563G>A (p.Gly7188Asp)
|
|
|
NM_001164508.2(NEB):c.21572C>G (p.Thr7191Arg)
|
|
|
NM_001164508.2(NEB):c.21584_21585inv (p.Thr7195Met)
|
|
|
NM_001164508.2(NEB):c.21599A>G (p.His7200Arg)
|
|
|
NM_001164508.2(NEB):c.21606C>T (p.Arg7202=)
|
rs2153489433
|
|
NM_001164508.2(NEB):c.21609G>C (p.Lys7203Asn)
|
rs2090430591
|
|
NM_001164508.2(NEB):c.21631-17del
|
|
|
NM_001164508.2(NEB):c.21631-7C>G
|
|
|
NM_001164508.2(NEB):c.21641AAG[1] (p.Glu7215del)
|
|
|
NM_001164508.2(NEB):c.21646G>A (p.Val7216Ile)
|
rs2153475893
|
|
NM_001164508.2(NEB):c.2164A>G (p.Ile722Val)
|
|
|
NM_001164508.2(NEB):c.21668A>C (p.Asn7223Thr)
|
|
|
NM_001164508.2(NEB):c.21739G>C (p.Asp7247His)
|
|
|
NM_001164508.2(NEB):c.21743A>G (p.Tyr7248Cys)
|
rs2153463102
|
|
NM_001164508.2(NEB):c.21773A>G (p.His7258Arg)
|
|
|
NM_001164508.2(NEB):c.21794G>A (p.Arg7265Gln)
|
|
|
NM_001164508.2(NEB):c.21826C>A (p.Leu7276Met)
|
|
|
NM_001164508.2(NEB):c.2182G>A (p.Ala728Thr)
|
rs1187124982
|
|
NM_001164508.2(NEB):c.21862G>A (p.Glu7288Lys)
|
rs768693028
|
|
NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)
|
|
|
NM_001164508.2(NEB):c.21874G>C (p.Gly7292Arg)
|
|
|
NM_001164508.2(NEB):c.21879C>T (p.Cys7293=)
|
|
|
NM_001164508.2(NEB):c.21908C>G (p.Thr7303Arg)
|
rs374819736
|
|
NM_001164508.2(NEB):c.21910G>A (p.Val7304Met)
|
|
|
NM_001164508.2(NEB):c.21919C>A (p.Leu7307Ile)
|
|
|
NM_001164508.2(NEB):c.21945T>C (p.Asp7315=)
|
|
|
NM_001164508.2(NEB):c.21980G>C (p.Gly7327Ala)
|
rs751167749
|
|
NM_001164508.2(NEB):c.21982A>G (p.Thr7328Ala)
|
|
|
NM_001164508.2(NEB):c.21983C>A (p.Thr7328Asn)
|
|
|
NM_001164508.2(NEB):c.22007C>T (p.Pro7336Leu)
|
rs1559547106
|
|
NM_001164508.2(NEB):c.22025A>G (p.Lys7342Arg)
|
|
|
NM_001164508.2(NEB):c.22042G>A (p.Val7348Met)
|
rs200918570
|
|
NM_001164508.2(NEB):c.22090G>C (p.Gly7364Arg)
|
rs2085588572
|
|
NM_001164508.2(NEB):c.2211+4A>C
|
rs2099553895
|
|
NM_001164508.2(NEB):c.2211T>C (p.Asp737=)
|
rs765620977
|
|
NM_001164508.2(NEB):c.2212-12C>G
|
|
|
NM_001164508.2(NEB):c.2212-9_2212-7del
|
rs2099542943
|
|
NM_001164508.2(NEB):c.22124C>T (p.Thr7375Ile)
|
rs1195608964
|
|
NM_001164508.2(NEB):c.22161+17_22161+18delinsTC
|
rs2153451799
|
|
NM_001164508.2(NEB):c.2216C>A (p.Thr739Asn)
|
rs2099542868
|
|
NM_001164508.2(NEB):c.22173A>T (p.Lys7391Asn)
|
rs2085025144
|
|
NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser)
|
rs2153447855
|
|
NM_001164508.2(NEB):c.22213A>G (p.Ile7405Val)
|
rs2153447751
|
|
NM_001164508.2(NEB):c.22228C>T (p.Pro7410Ser)
|
|
|
NM_001164508.2(NEB):c.22233G>C (p.Glu7411Asp)
|
rs1576243073
|
|
NM_001164508.2(NEB):c.22252G>A (p.Val7418Met)
|
|
|
NM_001164508.2(NEB):c.22264C>G (p.Gln7422Glu)
|
rs369642754
|
|
NM_001164508.2(NEB):c.22272+17A>G
|
|
|
NM_001164508.2(NEB):c.22273G>T (p.Val7425Phe)
|
rs752028559
|
|
NM_001164508.2(NEB):c.22301A>C (p.Asn7434Thr)
|
|
|
NM_001164508.2(NEB):c.2230C>T (p.Pro744Ser)
|
|
|
NM_001164508.2(NEB):c.22313C>T (p.Thr7438Ile)
|
rs2153439522
|
|
NM_001164508.2(NEB):c.22328G>A (p.Arg7443Gln)
|
|
|
NM_001164508.2(NEB):c.22328G>C (p.Arg7443Pro)
|
rs2084210932
|
|
NM_001164508.2(NEB):c.22330C>G (p.Pro7444Ala)
|
|
|
NM_001164508.2(NEB):c.22342A>G (p.Lys7448Glu)
|
|
|
NM_001164508.2(NEB):c.2234A>G (p.Asp745Gly)
|
rs1436329266
|
|
NM_001164508.2(NEB):c.22351C>G (p.Gln7451Glu)
|
rs2084197089
|
|
NM_001164508.2(NEB):c.22367C>T (p.Ala7456Val)
|
rs2153439115
|
|
NM_001164508.2(NEB):c.22374+9del
|
|
|
NM_001164508.2(NEB):c.2240C>A (p.Thr747Asn)
|
|
|
NM_001164508.2(NEB):c.22411C>T (p.His7471Tyr)
|
|
|
NM_001164508.2(NEB):c.2243A>G (p.Lys748Arg)
|
|
|
NM_001164508.2(NEB):c.22447A>T (p.Met7483Leu)
|
|
|
NM_001164508.2(NEB):c.22456_22457delinsGC (p.Lys7486Ala)
|
|
|
NM_001164508.2(NEB):c.22466A>G (p.Lys7489Arg)
|
rs2084038575
|
|
NM_001164508.2(NEB):c.22479+4A>C
|
|
|
NM_001164508.2(NEB):c.22500C>A (p.Phe7500Leu)
|
|
|
NM_001164508.2(NEB):c.22513G>A (p.Gly7505Ser)
|
|
|
NM_001164508.2(NEB):c.22523C>T (p.Pro7508Leu)
|
rs780741468
|
|
NM_001164508.2(NEB):c.22531A>G (p.Asn7511Asp)
|
rs2153396290
|
|
NM_001164508.2(NEB):c.22532A>C (p.Asn7511Thr)
|
|
|
NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg)
|
rs376609115
|
|
NM_001164508.2(NEB):c.22555A>G (p.Lys7519Glu)
|
rs2080605863
|
|
NM_001164508.2(NEB):c.22567G>C (p.Asp7523His)
|
rs2153395893
|
|
NM_001164508.2(NEB):c.22591-17del
|
|
|
NM_001164508.2(NEB):c.22591-3C>T
|
rs778824203
|
|
NM_001164508.2(NEB):c.22619T>C (p.Leu7540Pro)
|
|
|
NM_001164508.2(NEB):c.2263T>C (p.Ser755Pro)
|
|
|
NM_001164508.2(NEB):c.22676C>T (p.Thr7559Ile)
|
rs2080067943
|
|
NM_001164508.2(NEB):c.22690A>G (p.Ser7564Gly)
|
rs749222946
|
|
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del)
|
rs760161843
|
|
NM_001164508.2(NEB):c.22747C>T (p.Pro7583Ser)
|
rs2153380639
|
|
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg)
|
rs1575897069
|
|
NM_001164508.2(NEB):c.22754A>C (p.Asn7585Thr)
|
|
|
NM_001164508.2(NEB):c.22771C>A (p.Leu7591Ile)
|
|
|
NM_001164508.2(NEB):c.22841C>T (p.Pro7614Leu)
|
rs1182955893
|
|
NM_001164508.2(NEB):c.22912T>C (p.Tyr7638His)
|
|
|
NM_001164508.2(NEB):c.22950C>G (p.Asn7650Lys)
|
rs2153320948
|
|
NM_001164508.2(NEB):c.22991A>C (p.Lys7664Thr)
|
|
|
NM_001164508.2(NEB):c.23005A>C (p.Ile7669Leu)
|
|
|
NM_001164508.2(NEB):c.23016+3A>G
|
rs1194138148
|
|
NM_001164508.2(NEB):c.23016+4G>A
|
|
|
NM_001164508.2(NEB):c.23028G>C (p.Arg7676Ser)
|
|
|
NM_001164508.2(NEB):c.23083C>T (p.Pro7695Ser)
|
|
|
NM_001164508.2(NEB):c.230A>G (p.Asp77Gly)
|
|
|
NM_001164508.2(NEB):c.23102A>G (p.Lys7701Arg)
|
|
|
NM_001164508.2(NEB):c.23168G>A (p.Arg7723Lys)
|
rs947053462
|
|
NM_001164508.2(NEB):c.23182A>G (p.Met7728Val)
|
|
|
NM_001164508.2(NEB):c.23186C>T (p.Ala7729Val)
|
rs1284612506
|
|
NM_001164508.2(NEB):c.23197_23205del (p.Pro7733_Phe7735del)
|
|
|
NM_001164508.2(NEB):c.23225C>G (p.Thr7742Ser)
|
|
|
NM_001164508.2(NEB):c.23230A>G (p.Ile7744Val)
|
rs2075994673
|
|
NM_001164508.2(NEB):c.23233G>T (p.Ala7745Ser)
|
rs1179461829
|
|
NM_001164508.2(NEB):c.23242A>G (p.Ile7748Val)
|
rs767590150
|
|
NM_001164508.2(NEB):c.23288C>T (p.Ser7763Phe)
|
|
|
NM_001164508.2(NEB):c.23314C>T (p.His7772Tyr)
|
rs2075487458
|
|
NM_001164508.2(NEB):c.23316T>A (p.His7772Gln)
|
|
|
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del)
|
rs1553614214
|
|
NM_001164508.2(NEB):c.23338T>A (p.Ser7780Thr)
|
rs1553614160
|
|
NM_001164508.2(NEB):c.23341A>G (p.Ser7781Gly)
|
rs745794892
|
|
NM_001164508.2(NEB):c.23346+2dup
|
rs2153272570
|
|
NM_001164508.2(NEB):c.23350A>G (p.Lys7784Glu)
|
rs2070773602
|
|
NM_001164508.2(NEB):c.23405C>A (p.Thr7802Asn)
|
rs780379101
|
|
NM_001164508.2(NEB):c.23405C>T (p.Thr7802Ile)
|
rs780379101
|
|
NM_001164508.2(NEB):c.23480G>A (p.Ser7827Asn)
|
|
|
NM_001164508.2(NEB):c.2348A>G (p.Lys783Arg)
|
rs2099519230
|
|
NM_001164508.2(NEB):c.23524C>A (p.Arg7842Ser)
|
rs184516994
|
|
NM_001164508.2(NEB):c.2353C>A (p.His785Asn)
|
rs2099519209
|
|
NM_001164508.2(NEB):c.23576T>A (p.Val7859Asp)
|
|
|
NM_001164508.2(NEB):c.23609A>T (p.Glu7870Val)
|
rs1454960791
|
|
NM_001164508.2(NEB):c.23647T>C (p.Ser7883Pro)
|
|
|
NM_001164508.2(NEB):c.23648C>G (p.Ser7883Trp)
|
rs202191938
|
|
NM_001164508.2(NEB):c.2368_2370dup (p.Ala790dup)
|
rs2148990366
|
|
NM_001164508.2(NEB):c.23705T>C (p.Val7902Ala)
|
|
|
NM_001164508.2(NEB):c.23713G>A (p.Val7905Met)
|
|
|
NM_001164508.2(NEB):c.23731C>A (p.His7911Asn)
|
|
|
NM_001164508.2(NEB):c.23742G>A (p.Ser7914=)
|
|
|
NM_001164508.2(NEB):c.23743G>A (p.Val7915Ile)
|
rs767404419
|
|
NM_001164508.2(NEB):c.23752A>G (p.Lys7918Glu)
|
rs758478063
|
|
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup)
|
rs778176240
|
|
NM_001164508.2(NEB):c.23765G>A (p.Gly7922Glu)
|
|
|
NM_001164508.2(NEB):c.23773A>G (p.Ile7925Val)
|
rs1322894219
|
|
NM_001164508.2(NEB):c.23802G>C (p.Glu7934Asp)
|
|
|
NM_001164508.2(NEB):c.23827T>C (p.Phe7943Leu)
|
|
|
NM_001164508.2(NEB):c.23836-14C>T
|
|
|
NM_001164508.2(NEB):c.2384A>G (p.Gln795Arg)
|
|
|
NM_001164508.2(NEB):c.23867T>C (p.Ile7956Thr)
|
rs933996254
|
|
NM_001164508.2(NEB):c.23889G>C (p.Glu7963Asp)
|
rs975397268
|
|
NM_001164508.2(NEB):c.23889G>T (p.Glu7963Asp)
|
|
|
NM_001164508.2(NEB):c.2390G>T (p.Arg797Ile)
|
|
|
NM_001164508.2(NEB):c.23916G>C (p.Glu7972Asp)
|
|
|
NM_001164508.2(NEB):c.23926T>A (p.Ser7976Thr)
|
rs2065743787
|
|
NM_001164508.2(NEB):c.23929-12_23929-11del
|
|
|
NM_001164508.2(NEB):c.23949G>C (p.Leu7983Phe)
|
rs2153073370
|
|
NM_001164508.2(NEB):c.23955G>C (p.Lys7985Asn)
|
rs1189932875
|
|
NM_001164508.2(NEB):c.23957G>C (p.Gly7986Ala)
|
rs2064473141
|
|
NM_001164508.2(NEB):c.23984T>A (p.Met7995Lys)
|
|
|
NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr)
|
rs1064796521
|
|
NM_001164508.2(NEB):c.23992G>A (p.Val7998Ile)
|
|
|
NM_001164508.2(NEB):c.24022-10T>G
|
|
|
NM_001164508.2(NEB):c.24022-9_24022-8del
|
|
|
NM_001164508.2(NEB):c.24028T>C (p.Tyr8010His)
|
rs555681348
|
|
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala)
|
rs1323764871
|
|
NM_001164508.2(NEB):c.24071C>G (p.Pro8024Arg)
|
rs2153021543
|
|
NM_001164508.2(NEB):c.24082A>G (p.Arg8028Gly)
|
rs2062685891
|
|
NM_001164508.2(NEB):c.24095A>G (p.Asn8032Ser)
|
rs946188918
|
|
NM_001164508.2(NEB):c.24107T>G (p.Phe8036Cys)
|
|
|
NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu)
|
rs1458048713
|
|
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=)
|
rs781581005
|
|
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=)
|
rs781581005
|
|
NM_001164508.2(NEB):c.2415+6T>C
|
rs760614044
|
|
NM_001164508.2(NEB):c.24158T>C (p.Ile8053Thr)
|
rs2061739053
|
|
NM_001164508.2(NEB):c.24207+12_24207+16dup
|
rs1559228786
|
|
NM_001164508.2(NEB):c.24208-7C>A
|
rs113048349
|
|
NM_001164508.2(NEB):c.24208-7_24208-6insTAA
|
|
|
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup)
|
rs769252768
|
|
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup)
|
rs780724946
|
|
NM_001164508.2(NEB):c.24300+18G>C
|
|
|
NM_001164508.2(NEB):c.24300G>C (p.Ser8100=)
|
rs541126160
|
|
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.2432A>T (p.Asp811Val)
|
rs896028175
|
|
NM_001164508.2(NEB):c.24350C>G (p.Pro8117Arg)
|
|
|
NM_001164508.2(NEB):c.24393+14A>G
|
|
|
NM_001164508.2(NEB):c.24394G>C (p.Val8132Leu)
|
|
|
NM_001164508.2(NEB):c.24433G>A (p.Ala8145Thr)
|
|
|
NM_001164508.2(NEB):c.24451G>A (p.Glu8151Lys)
|
rs1385464726
|
|
NM_001164508.2(NEB):c.24454C>G (p.Arg8152Gly)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24508G>A (p.Gly8170Arg)
|
rs1553537770
|
|
NM_001164508.2(NEB):c.24508G>C (p.Gly8170Arg)
|
rs1553537770
|
|
NM_001164508.2(NEB):c.24518C>T (p.Thr8173Ile)
|
|
|
NM_001164508.2(NEB):c.24536C>T (p.Pro8179Leu)
|
|
|
NM_001164508.2(NEB):c.24575G>C (p.Ser8192Thr)
|
rs2152874768
|
|
NM_001164508.2(NEB):c.24581T>A (p.Val8194Glu)
|
|
|
NM_001164508.2(NEB):c.24589A>G (p.Lys8197Glu)
|
|
|
NM_001164508.2(NEB):c.24608C>G (p.Ala8203Gly)
|
rs2152863881
|
|
NM_001164508.2(NEB):c.24619C>A (p.Pro8207Thr)
|
|
|
NM_001164508.2(NEB):c.24625A>G (p.Thr8209Ala)
|
rs1680474922
|
|
NM_001164508.2(NEB):c.24632A>C (p.Glu8211Ala)
|
rs201243201
|
|
NM_001164508.2(NEB):c.24636G>A (p.Met8212Ile)
|
rs770656983
|
|
NM_001164508.2(NEB):c.24657A>C (p.Gln8219His)
|
|
|
NM_001164508.2(NEB):c.24690C>G (p.Asn8230Lys)
|
rs2058061871
|
|
NM_001164508.2(NEB):c.24700G>C (p.Ala8234Pro)
|
|
|
NM_001164508.2(NEB):c.24710C>T (p.Thr8237Ile)
|
rs369083039
|
|
NM_001164508.2(NEB):c.24722C>T (p.Pro8241Leu)
|
rs2152851388
|
|
NM_001164508.2(NEB):c.24728T>G (p.Met8243Arg)
|
rs778196202
|
|
NM_001164508.2(NEB):c.24731A>G (p.Glu8244Gly)
|
rs2152851090
|
|
NM_001164508.2(NEB):c.24733A>G (p.Arg8245Gly)
|
rs2058041442
|
|
NM_001164508.2(NEB):c.24764C>T (p.Ser8255Leu)
|
|
|
NM_001164508.2(NEB):c.24769C>T (p.Leu8257Phe)
|
|
|
NM_001164508.2(NEB):c.24772T>A (p.Tyr8258Asn)
|
|
|
NM_001164508.2(NEB):c.24775_24780del (p.Asp8260_Ser8261del)
|
|
|
NM_001164508.2(NEB):c.2477C>T (p.Ala826Val)
|
|
|
NM_001164508.2(NEB):c.24781A>G (p.Ser8261Gly)
|
|
|
NM_001164508.2(NEB):c.24788G>A (p.Arg8263Gln)
|
rs745615279
|
|
NM_001164508.2(NEB):c.24799C>G (p.Gln8267Glu)
|
rs2152828559
|
|
NM_001164508.2(NEB):c.2479A>G (p.Ile827Val)
|
|
|
NM_001164508.2(NEB):c.24802G>A (p.Gly8268Ser)
|
|
|
NM_001164508.2(NEB):c.24817G>A (p.Val8273Ile)
|
|
|
NM_001164508.2(NEB):c.24829C>G (p.Pro8277Ala)
|
|
|
NM_001164508.2(NEB):c.24830C>A (p.Pro8277His)
|
rs2152828148
|
|
NM_001164508.2(NEB):c.24832G>C (p.Glu8278Gln)
|
|
|
NM_001164508.2(NEB):c.24839G>A (p.Arg8280Lys)
|
rs759522039
|
|
NM_001164508.2(NEB):c.24845T>C (p.Val8282Ala)
|
|
|
NM_001164508.2(NEB):c.24857A>G (p.Gln8286Arg)
|
|
|
NM_001164508.2(NEB):c.2485C>G (p.Leu829Val)
|
rs2099513616
|
|
NM_001164508.2(NEB):c.24873G>T (p.Thr8291=)
|
|
|
NM_001164508.2(NEB):c.24875T>C (p.Val8292Ala)
|
|
|
NM_001164508.2(NEB):c.24907G>C (p.Gly8303Arg)
|
rs780925059
|
|
NM_001164508.2(NEB):c.24908G>A (p.Gly8303Asp)
|
|
|
NM_001164508.2(NEB):c.24925G>C (p.Val8309Leu)
|
rs1401528056
|
|
NM_001164508.2(NEB):c.24946C>G (p.Arg8316Gly)
|
|
|
NM_001164508.2(NEB):c.24949G>A (p.Val8317Ile)
|
rs1341580706
|
|
NM_001164508.2(NEB):c.24971T>C (p.Phe8324Ser)
|
|
|
NM_001164508.2(NEB):c.24980T>C (p.Ile8327Thr)
|
rs775698655
|
|
NM_001164508.2(NEB):c.24998A>T (p.Gln8333Leu)
|
|
|
NM_001164508.2(NEB):c.25007T>C (p.Val8336Ala)
|
rs1574651626
|
|
NM_001164508.2(NEB):c.25010T>G (p.Val8337Gly)
|
rs2057127460
|
|
NM_001164508.2(NEB):c.25021C>A (p.Gln8341Lys)
|
|
|
NM_001164508.2(NEB):c.25037A>G (p.Gln8346Arg)
|
rs2057118708
|
|
NM_001164508.2(NEB):c.25049C>T (p.Thr8350Ile)
|
rs2057112732
|
|
NM_001164508.2(NEB):c.25066G>A (p.Val8356Ile)
|
|
|
NM_001164508.2(NEB):c.25088C>T (p.Ser8363Leu)
|
|
|
NM_001164508.2(NEB):c.25099T>C (p.Tyr8367His)
|
|
|
NM_001164508.2(NEB):c.25105C>G (p.Pro8369Ala)
|
rs1038960610
|
|
NM_001164508.2(NEB):c.25130G>C (p.Arg8377Pro)
|
|
|
NM_001164508.2(NEB):c.25132A>G (p.Ser8378Gly)
|
|
|
NM_001164508.2(NEB):c.25153C>A (p.Gln8385Lys)
|
|
|
NM_001164508.2(NEB):c.25162C>A (p.Arg8388Ser)
|
|
|
NM_001164508.2(NEB):c.25166G>A (p.Arg8389Gln)
|
|
|
NM_001164508.2(NEB):c.25180T>C (p.Ser8394Pro)
|
|
|
NM_001164508.2(NEB):c.25184G>T (p.Arg8395Leu)
|
rs779983347
|
|
NM_001164508.2(NEB):c.25192A>G (p.Ser8398Gly)
|
rs1308512715
|
|
NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)
|
|
|
NM_001164508.2(NEB):c.25214G>T (p.Gly8405Val)
|
rs768811942
|
|
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)
|
rs1553520266
|
|
NM_001164508.2(NEB):c.25216GAG[1] (p.Glu8407del)
|
|
|
NM_001164508.2(NEB):c.2523+6T>C
|
rs2099513341
|
|
NM_001164508.2(NEB):c.2524-12A>G
|
|
|
NM_001164508.2(NEB):c.25255C>T (p.Leu8419Phe)
|
|
|
NM_001164508.2(NEB):c.25297+4C>T
|
rs1410859190
|
|
NM_001164508.2(NEB):c.25304A>G (p.Lys8435Arg)
|
|
|
NM_001164508.2(NEB):c.25360C>T (p.Gln8454Ter)
|
|
|
NM_001164508.2(NEB):c.25361A>G (p.Gln8454Arg)
|
|
|
NM_001164508.2(NEB):c.25396A>G (p.Thr8466Ala)
|
rs2152762849
|
|
NM_001164508.2(NEB):c.25409T>C (p.Ile8470Thr)
|
rs1280701887
|
|
NM_001164508.2(NEB):c.2542T>C (p.Tyr848His)
|
|
|
NM_001164508.2(NEB):c.25444G>A (p.Ala8482Thr)
|
|
|
NM_001164508.2(NEB):c.25447G>C (p.Asp8483His)
|
rs993833092
|
|
NM_001164508.2(NEB):c.25447G>T (p.Asp8483Tyr)
|
|
|
NM_001164508.2(NEB):c.25469G>A (p.Gly8490Glu)
|
|
|
NM_001164508.2(NEB):c.25498G>A (p.Asp8500Asn)
|
rs1574251962
|
|
NM_001164508.2(NEB):c.254A>G (p.Tyr85Cys)
|
rs1201662596
|
|
NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter)
|
|
|
NM_001164508.2(NEB):c.25519A>G (p.Thr8507Ala)
|
|
|
NM_001164508.2(NEB):c.2552G>A (p.Ser851Asn)
|
|
|
NM_001164508.2(NEB):c.25535G>A (p.Gly8512Asp)
|
rs2152614968
|
|
NM_001164508.2(NEB):c.25564G>T (p.Val8522Phe)
|
rs117861109
|
|
NM_001164508.2(NEB):c.2567T>C (p.Ile856Thr)
|
|
|
NM_001164508.2(NEB):c.2569G>A (p.Gly857Arg)
|
rs1559253666
|
|
NM_001164508.2(NEB):c.2572G>A (p.Ala858Thr)
|
|
|
NM_001164508.2(NEB):c.2581A>G (p.Ile861Val)
|
rs755695934
|
|
NM_001164508.2(NEB):c.2586T>A (p.Asn862Lys)
|
|
|
NM_001164508.2(NEB):c.25G>A (p.Glu9Lys)
|
rs2151148401
|
|
NM_001164508.2(NEB):c.2609C>T (p.Ser870Phe)
|
rs896068588
|
|
NM_001164508.2(NEB):c.2618C>T (p.Thr873Ile)
|
|
|
NM_001164508.2(NEB):c.2624A>G (p.Lys875Arg)
|
|
|
NM_001164508.2(NEB):c.2630A>T (p.Gln877Leu)
|
rs373892420
|
|
NM_001164508.2(NEB):c.2637+3G>C
|
|
|
NM_001164508.2(NEB):c.2659G>A (p.Glu887Lys)
|
rs1553558398
|
|
NM_001164508.2(NEB):c.2678A>G (p.Tyr893Cys)
|
|
|
NM_001164508.2(NEB):c.2681C>A (p.Thr894Lys)
|
|
|
NM_001164508.2(NEB):c.2681C>T (p.Thr894Met)
|
|
|
NM_001164508.2(NEB):c.2762T>C (p.Leu921Ser)
|
rs2099480203
|
|
NM_001164508.2(NEB):c.2833G>A (p.Asp945Asn)
|
|
|
NM_001164508.2(NEB):c.2833G>T (p.Asp945Tyr)
|
rs549231016
|
|
NM_001164508.2(NEB):c.2835+20G>A
|
|
|
NM_001164508.2(NEB):c.2835+5G>C
|
rs2148837364
|
|
NM_001164508.2(NEB):c.2835+7A>T
|
|
|
NM_001164508.2(NEB):c.2866A>T (p.Met956Leu)
|
|
|
NM_001164508.2(NEB):c.2906T>G (p.Met969Arg)
|
rs2099429603
|
|
NM_001164508.2(NEB):c.2921G>T (p.Arg974Leu)
|
rs368642083
|
|
NM_001164508.2(NEB):c.2942A>G (p.Glu981Gly)
|
rs1225494274
|
|
NM_001164508.2(NEB):c.2943+5dup
|
rs2099429370
|
|
NM_001164508.2(NEB):c.296A>T (p.Asn99Ile)
|
|
|
NM_001164508.2(NEB):c.2975A>T (p.Lys992Met)
|
|
|
NM_001164508.2(NEB):c.2998C>G (p.Pro1000Ala)
|
rs763910385
|
|
NM_001164508.2(NEB):c.3022A>G (p.Asn1008Asp)
|
rs1576128802
|
|
NM_001164508.2(NEB):c.3028G>C (p.Ala1010Pro)
|
rs770003609
|
|
NM_001164508.2(NEB):c.3042+3_3042+6del
|
rs2099408346
|
|
NM_001164508.2(NEB):c.3047C>T (p.Ala1016Val)
|
rs2148609477
|
|
NM_001164508.2(NEB):c.3071T>C (p.Ile1024Thr)
|
|
|
NM_001164508.2(NEB):c.3098A>G (p.Asp1033Gly)
|
|
|
NM_001164508.2(NEB):c.3101T>C (p.Leu1034Pro)
|
|
|
NM_001164508.2(NEB):c.3147+14C>T
|
|
|
NM_001164508.2(NEB):c.3147+5G>T
|
|
|
NM_001164508.2(NEB):c.3148-3C>A
|
|
|
NM_001164508.2(NEB):c.3154T>C (p.Tyr1052His)
|
rs1553539456
|
|
NM_001164508.2(NEB):c.3165C>G (p.Asp1055Glu)
|
|
|
NM_001164508.2(NEB):c.3183G>C (p.Lys1061Asn)
|
|
|
NM_001164508.2(NEB):c.3190T>A (p.Tyr1064Asn)
|
rs2148596836
|
|
NM_001164508.2(NEB):c.3209C>T (p.Ala1070Val)
|
rs371710158
|
|
NM_001164508.2(NEB):c.3223G>A (p.Ala1075Thr)
|
|
|
NM_001164508.2(NEB):c.3230A>G (p.Lys1077Arg)
|
rs2099400877
|
|
NM_001164508.2(NEB):c.3235G>T (p.Ala1079Ser)
|
rs1576082029
|
|
NM_001164508.2(NEB):c.3238_3239insAACCTGCCA (p.Ala1079_Arg1080insLysProAla)
|
rs2099400833
|
|
NM_001164508.2(NEB):c.3286A>G (p.Lys1096Glu)
|
|
|
NM_001164508.2(NEB):c.3320A>T (p.Asp1107Val)
|
|
|
NM_001164508.2(NEB):c.3362A>G (p.Gln1121Arg)
|
rs1559152642
|
|
NM_001164508.2(NEB):c.3397A>G (p.Thr1133Ala)
|
rs1294520829
|
|
NM_001164508.2(NEB):c.3428T>A (p.Met1143Lys)
|
rs1428000725
|
|
NM_001164508.2(NEB):c.3445G>T (p.Ala1149Ser)
|
rs752178904
|
|
NM_001164508.2(NEB):c.3474T>G (p.Asn1158Lys)
|
|
|
NM_001164508.2(NEB):c.3500A>G (p.His1167Arg)
|
rs2154210444
|
|
NM_001164508.2(NEB):c.352G>T (p.Asp118Tyr)
|
|
|
NM_001164508.2(NEB):c.3551T>C (p.Met1184Thr)
|
rs1308063415
|
|
NM_001164508.2(NEB):c.3568-15_3568-14insGCCCTCACTCCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_001164508.2(NEB):c.36+2dup
|
|
|
NM_001164508.2(NEB):c.36+4A>G
|
|
|
NM_001164508.2(NEB):c.3616A>G (p.Ile1206Val)
|
|
|
NM_001164508.2(NEB):c.3630T>G (p.Ser1210Arg)
|
|
|
NM_001164508.2(NEB):c.3662A>G (p.Asp1221Gly)
|
|
|
NM_001164508.2(NEB):c.3664G>T (p.Ala1222Ser)
|
|
|
NM_001164508.2(NEB):c.3677A>G (p.Lys1226Arg)
|
rs2099381015
|
|
NM_001164508.2(NEB):c.3681G>T (p.Lys1227Asn)
|
|
|
NM_001164508.2(NEB):c.3698A>G (p.Asp1233Gly)
|
|
|
NM_001164508.2(NEB):c.3700A>G (p.Thr1234Ala)
|
|
|
NM_001164508.2(NEB):c.3713C>T (p.Thr1238Ile)
|
rs1311528896
|
|
NM_001164508.2(NEB):c.3715A>C (p.Ser1239Arg)
|
rs759109957
|
|
NM_001164508.2(NEB):c.3717C>G (p.Ser1239Arg)
|
rs765671775
|
|
NM_001164508.2(NEB):c.3724G>A (p.Asp1242Asn)
|
|
|
NM_001164508.2(NEB):c.3774+4A>C
|
rs1026503983
|
|
NM_001164508.2(NEB):c.3776T>C (p.Ile1259Thr)
|
rs1553522143
|
|
NM_001164508.2(NEB):c.3786G>T (p.Lys1262Asn)
|
|
|
NM_001164508.2(NEB):c.3788C>A (p.Ala1263Asp)
|
rs1575886894
|
|
NM_001164508.2(NEB):c.3807A>C (p.Lys1269Asn)
|
|
|
NM_001164508.2(NEB):c.3853A>G (p.Lys1285Glu)
|
|
|
NM_001164508.2(NEB):c.3869A>G (p.Asn1290Ser)
|
|
|
NM_001164508.2(NEB):c.3871A>G (p.Ile1291Val)
|
|
|
NM_001164508.2(NEB):c.3879+2dup
|
rs2099350895
|
|
NM_001164508.2(NEB):c.3879C>T (p.Asp1293=)
|
|
|
NM_001164508.2(NEB):c.3896A>T (p.Asp1299Val)
|
|
|
NM_001164508.2(NEB):c.3910A>G (p.Ile1304Val)
|
|
|
NM_001164508.2(NEB):c.3918G>T (p.Lys1306Asn)
|
|
|
NM_001164508.2(NEB):c.3938A>G (p.Asp1313Gly)
|
rs2154198103
|
|
NM_001164508.2(NEB):c.3940G>A (p.Ala1314Thr)
|
rs2154198100
|
|
NM_001164508.2(NEB):c.3943A>G (p.Ile1315Val)
|
|
|
NM_001164508.2(NEB):c.3943_3945delinsTGG (p.Ile1315Trp)
|
|
|
NM_001164508.2(NEB):c.394C>T (p.Leu132Phe)
|
rs2099787743
|
|
NM_001164508.2(NEB):c.4010A>G (p.Glu1337Gly)
|
rs921890762
|
|
NM_001164508.2(NEB):c.401A>G (p.Glu134Gly)
|
rs2150794998
|
|
NM_001164508.2(NEB):c.402+4G>A
|
rs1162289427
|
|
NM_001164508.2(NEB):c.402+4_402+27del
|
|
|
NM_001164508.2(NEB):c.4027C>G (p.His1343Asp)
|
|
|
NM_001164508.2(NEB):c.4034G>A (p.Gly1345Asp)
|
|
|
NM_001164508.2(NEB):c.4042A>G (p.Ser1348Gly)
|
|
|
NM_001164508.2(NEB):c.4073A>G (p.Tyr1358Cys)
|
rs1223706560
|
|
NM_001164508.2(NEB):c.4119C>A (p.Asn1373Lys)
|
rs377653217
|
|
NM_001164508.2(NEB):c.4144C>G (p.His1382Asp)
|
rs2099313352
|
|
NM_001164508.2(NEB):c.4185G>A (p.Met1395Ile)
|
|
|
NM_001164508.2(NEB):c.4192G>T (p.Asp1398Tyr)
|
|
|
NM_001164508.2(NEB):c.4214A>G (p.Tyr1405Cys)
|
|
|
NM_001164508.2(NEB):c.422G>A (p.Gly141Asp)
|
rs973669056
|
|
NM_001164508.2(NEB):c.4235A>T (p.Tyr1412Phe)
|
|
|
NM_001164508.2(NEB):c.4244T>A (p.Leu1415Gln)
|
rs2099312411
|
|
NM_001164508.2(NEB):c.4264G>C (p.Glu1422Gln)
|
rs921972170
|
|
NM_001164508.2(NEB):c.4300-3C>T
|
rs2154190807
|
|
NM_001164508.2(NEB):c.4325G>T (p.Ser1442Ile)
|
|
|
NM_001164508.2(NEB):c.4339A>G (p.Ile1447Val)
|
|
|
NM_001164508.2(NEB):c.4372G>A (p.Glu1458Lys)
|
rs1559073472
|
|
NM_001164508.2(NEB):c.43A>G (p.Thr15Ala)
|
rs918736685
|
|
NM_001164508.2(NEB):c.4412A>C (p.Lys1471Thr)
|
|
|
NM_001164508.2(NEB):c.4415A>G (p.Tyr1472Cys)
|
|
|
NM_001164508.2(NEB):c.441A>G (p.Ile147Met)
|
rs2099785798
|
|
NM_001164508.2(NEB):c.4424A>G (p.His1475Arg)
|
rs2154190465
|
|
NM_001164508.2(NEB):c.4432A>G (p.Thr1478Ala)
|
rs2099279650
|
|
NM_001164508.2(NEB):c.4439A>C (p.Lys1480Thr)
|
|
|
NM_001164508.2(NEB):c.4448G>A (p.Ser1483Asn)
|
rs1417148362
|
|
NM_001164508.2(NEB):c.4462A>G (p.Met1488Val)
|
|
|
NM_001164508.2(NEB):c.4466G>T (p.Gly1489Val)
|
rs74482326
|
|
NM_001164508.2(NEB):c.446A>G (p.His149Arg)
|
rs2150762228
|
|
NM_001164508.2(NEB):c.4498C>T (p.Leu1500=)
|
|
|
NM_001164508.2(NEB):c.4506+4A>G
|
|
|
NM_001164508.2(NEB):c.4520T>G (p.Val1507Gly)
|
|
|
NM_001164508.2(NEB):c.4523A>G (p.Glu1508Gly)
|
|
|
NM_001164508.2(NEB):c.4526G>A (p.Gly1509Glu)
|
rs2154185771
|
|
NM_001164508.2(NEB):c.452A>G (p.Asp151Gly)
|
|
|
NM_001164508.2(NEB):c.4568C>T (p.Pro1523Leu)
|
|
|
NM_001164508.2(NEB):c.4583C>T (p.Ala1528Val)
|
rs1023227996
|
|
NM_001164508.2(NEB):c.4595C>A (p.Ala1532Asp)
|
rs1456966310
|
|
NM_001164508.2(NEB):c.4603A>G (p.Met1535Val)
|
|
|
NM_001164508.2(NEB):c.4611T>C (p.Asp1537=)
|
rs2099254265
|
|
NM_001164508.2(NEB):c.4652G>A (p.Gly1551Asp)
|
rs2099240158
|
|
NM_001164508.2(NEB):c.4684G>T (p.Val1562Phe)
|
|
|
NM_001164508.2(NEB):c.4694A>C (p.Lys1565Thr)
|
|
|
NM_001164508.2(NEB):c.4703G>A (p.Arg1568Lys)
|
|
|
NM_001164508.2(NEB):c.4738T>C (p.Tyr1580His)
|
rs2154179233
|
|
NM_001164508.2(NEB):c.476A>G (p.His159Arg)
|
|
|
NM_001164508.2(NEB):c.4775G>C (p.Ser1592Thr)
|
|
|
NM_001164508.2(NEB):c.47A>G (p.Glu16Gly)
|
|
|
NM_001164508.2(NEB):c.4802A>G (p.His1601Arg)
|
|
|
NM_001164508.2(NEB):c.4819A>G (p.Lys1607Glu)
|
|
|
NM_001164508.2(NEB):c.481A>G (p.Lys161Glu)
|
rs1440684786
|
|
NM_001164508.2(NEB):c.4834C>A (p.Arg1612Ser)
|
rs200545007
|
|
NM_001164508.2(NEB):c.4835G>C (p.Arg1612Pro)
|
|
|
NM_001164508.2(NEB):c.4835G>T (p.Arg1612Leu)
|
rs534531948
|
|
NM_001164508.2(NEB):c.4843A>G (p.Lys1615Glu)
|
rs1237432906
|
|
NM_001164508.2(NEB):c.4847A>G (p.Lys1616Arg)
|
|
|
NM_001164508.2(NEB):c.4853A>G (p.Tyr1618Cys)
|
rs759773612
|
|
NM_001164508.2(NEB):c.4868C>G (p.Thr1623Ser)
|
|
|
NM_001164508.2(NEB):c.4880C>T (p.Thr1627Ile)
|
rs1651215974
|
|
NM_001164508.2(NEB):c.4934C>A (p.Thr1645Asn)
|
|
|
NM_001164508.2(NEB):c.4937A>G (p.Asn1646Ser)
|
|
|
NM_001164508.2(NEB):c.4938C>A (p.Asn1646Lys)
|
|
|
NM_001164508.2(NEB):c.4960C>A (p.His1654Asn)
|
rs2154178833
|
|
NM_001164508.2(NEB):c.4964A>G (p.His1655Arg)
|
rs2099214775
|
|
NM_001164508.2(NEB):c.4970C>G (p.Thr1657Ser)
|
|
|
NM_001164508.2(NEB):c.4985C>A (p.Ala1662Asp)
|
rs2154178777
|
|
NM_001164508.2(NEB):c.4987T>A (p.Leu1663Met)
|
rs2154178771
|
|
NM_001164508.2(NEB):c.499G>C (p.Val167Leu)
|
|
|
NM_001164508.2(NEB):c.5024A>G (p.Gln1675Arg)
|
rs2099214265
|
|
NM_001164508.2(NEB):c.5030A>G (p.Asp1677Gly)
|
|
|
NM_001164508.2(NEB):c.5039_5044del (p.Tyr1680_Lys1681del)
|
rs1300563797
|
|
NM_001164508.2(NEB):c.5074G>A (p.Gly1692Ser)
|
rs764638678
|
|
NM_001164508.2(NEB):c.5104G>A (p.Glu1702Lys)
|
|
|
NM_001164508.2(NEB):c.5120C>A (p.Ala1707Glu)
|
rs1575576650
|
|
NM_001164508.2(NEB):c.5132T>C (p.Leu1711Pro)
|
rs2099203051
|
|
NM_001164508.2(NEB):c.5140AAG[1] (p.Lys1715del)
|
rs1553492424
|
|
NM_001164508.2(NEB):c.5150G>T (p.Arg1717Leu)
|
rs747091795
|
|
NM_001164508.2(NEB):c.5153A>T (p.Gln1718Leu)
|
rs1064796520
|
|
NM_001164508.2(NEB):c.5170_5172del (p.Lys1724del)
|
rs1553492107
|
|
NM_001164508.2(NEB):c.5211_5213del (p.Asn1737del)
|
rs1553491789
|
|
NM_001164508.2(NEB):c.5239A>G (p.Arg1747Gly)
|
rs1272476034
|
|
NM_001164508.2(NEB):c.5257T>C (p.Trp1753Arg)
|
|
|
NM_001164508.2(NEB):c.5261A>G (p.Asn1754Ser)
|
|
|
NM_001164508.2(NEB):c.5264A>T (p.Lys1755Met)
|
|
|
NM_001164508.2(NEB):c.5279T>G (p.Ile1760Ser)
|
|
|
NM_001164508.2(NEB):c.529G>A (p.Glu177Lys)
|
rs1403433350
|
|
NM_001164508.2(NEB):c.52G>C (p.Val18Leu)
|
rs2150994592
|
|
NM_001164508.2(NEB):c.5304T>A (p.Asp1768Glu)
|
|
|
NM_001164508.2(NEB):c.5311C>T (p.Leu1771Phe)
|
|
|
NM_001164508.2(NEB):c.5329A>G (p.Ile1777Val)
|
|
|
NM_001164508.2(NEB):c.5335A>T (p.Met1779Leu)
|
rs962698882
|
|
NM_001164508.2(NEB):c.5337G>A (p.Met1779Ile)
|
|
|
NM_001164508.2(NEB):c.5345A>C (p.Lys1782Thr)
|
|
|
NM_001164508.2(NEB):c.5348T>C (p.Leu1783Pro)
|
|
|
NM_001164508.2(NEB):c.5365G>A (p.Glu1789Lys)
|
rs774196513
|
|
NM_001164508.2(NEB):c.5403T>G (p.Asp1801Glu)
|
|
|
NM_001164508.2(NEB):c.5405C>A (p.Ala1802Asp)
|
|
|
NM_001164508.2(NEB):c.5419G>C (p.Ala1807Pro)
|
|
|
NM_001164508.2(NEB):c.5419G>T (p.Ala1807Ser)
|
rs374677022
|
|
NM_001164508.2(NEB):c.5420C>G (p.Ala1807Gly)
|
rs373790988
|
|
NM_001164508.2(NEB):c.5432C>G (p.Ser1811Cys)
|
|
|
NM_001164508.2(NEB):c.5436A>C (p.Arg1812Ser)
|
|
|
NM_001164508.2(NEB):c.5437G>A (p.Asp1813Asn)
|
rs2099187269
|
|
NM_001164508.2(NEB):c.5444C>G (p.Ala1815Gly)
|
rs767491081
|
|
NM_001164508.2(NEB):c.5451T>C (p.Asp1817=)
|
|
|
NM_001164508.2(NEB):c.5467G>T (p.Ala1823Ser)
|
rs2099173290
|
|
NM_001164508.2(NEB):c.5515G>A (p.Asp1839Asn)
|
rs2099172820
|
|
NM_001164508.2(NEB):c.5525A>G (p.Lys1842Arg)
|
rs2099172694
|
|
NM_001164508.2(NEB):c.5535C>G (p.His1845Gln)
|
|
|
NM_001164508.2(NEB):c.5555T>C (p.Met1852Thr)
|
rs144180493
|
|
NM_001164508.2(NEB):c.5558A>C (p.Gln1853Pro)
|
rs748760784
|
|
NM_001164508.2(NEB):c.5561C>T (p.Ser1854Leu)
|
rs1553485582
|
|
NM_001164508.2(NEB):c.5587G>A (p.Glu1863Lys)
|
|
|
NM_001164508.2(NEB):c.5596A>G (p.Lys1866Glu)
|
|
|
NM_001164508.2(NEB):c.5612C>A (p.Thr1871Asn)
|
rs753865894
|
|
NM_001164508.2(NEB):c.5630G>T (p.Ser1877Ile)
|
|
|
NM_001164508.2(NEB):c.5641_5642delinsAG (p.Ala1881Ser)
|
rs2154172447
|
|
NM_001164508.2(NEB):c.5669A>T (p.Asn1890Ile)
|
|
|
NM_001164508.2(NEB):c.5678A>G (p.Tyr1893Cys)
|
|
|
NM_001164508.2(NEB):c.5683A>C (p.Asn1895His)
|
|
|
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del)
|
rs775531807
|
|
NM_001164508.2(NEB):c.5699A>T (p.Tyr1900Phe)
|
|
|
NM_001164508.2(NEB):c.5717C>T (p.Ala1906Val)
|
rs2099170735
|
|
NM_001164508.2(NEB):c.5719A>G (p.Met1907Val)
|
|
|
NM_001164508.2(NEB):c.5720T>G (p.Met1907Arg)
|
|
|
NM_001164508.2(NEB):c.5754T>G (p.Ile1918Met)
|
|
|
NM_001164508.2(NEB):c.5767C>G (p.Gln1923Glu)
|
rs2154169026
|
|
NM_001164508.2(NEB):c.5771A>C (p.Tyr1924Ser)
|
|
|
NM_001164508.2(NEB):c.5771A>G (p.Tyr1924Cys)
|
rs747326135
|
|
NM_001164508.2(NEB):c.5806G>A (p.Gly1936Arg)
|
rs997951612
|
|
NM_001164508.2(NEB):c.5816C>T (p.Pro1939Leu)
|
rs1486289467
|
|
NM_001164508.2(NEB):c.5824T>A (p.Ser1942Thr)
|
rs2154168846
|
|
NM_001164508.2(NEB):c.5836G>A (p.Glu1946Lys)
|
|
|
NM_001164508.2(NEB):c.5843A>T (p.Asn1948Ile)
|
rs2154168814
|
|
NM_001164508.2(NEB):c.5864T>C (p.Ile1955Thr)
|
|
|
NM_001164508.2(NEB):c.5895C>A (p.Asp1965Glu)
|
|
|
NM_001164508.2(NEB):c.5924C>T (p.Ser1975Leu)
|
|
|
NM_001164508.2(NEB):c.5935G>C (p.Val1979Leu)
|
rs771329756
|
|
NM_001164508.2(NEB):c.5936T>C (p.Val1979Ala)
|
rs749553879
|
|
NM_001164508.2(NEB):c.5945A>C (p.Gln1982Pro)
|
rs1212716508
|
|
NM_001164508.2(NEB):c.5971-12T>C
|
|
|
NM_001164508.2(NEB):c.5973T>A (p.His1991Gln)
|
|
|
NM_001164508.2(NEB):c.5985A>G (p.Gln1995=)
|
rs2099118542
|
|
NM_001164508.2(NEB):c.5986G>A (p.Ala1996Thr)
|
|
|
NM_001164508.2(NEB):c.5986G>C (p.Ala1996Pro)
|
|
|
NM_001164508.2(NEB):c.5987C>A (p.Ala1996Glu)
|
|
|
NM_001164508.2(NEB):c.5992G>C (p.Glu1998Gln)
|
|
|
NM_001164508.2(NEB):c.6031C>T (p.Pro2011Ser)
|
|
|
NM_001164508.2(NEB):c.6032C>T (p.Pro2011Leu)
|
rs2099118243
|
|
NM_001164508.2(NEB):c.6035A>G (p.Gln2012Arg)
|
rs2154157733
|
|
NM_001164508.2(NEB):c.6046G>C (p.Ala2016Pro)
|
rs1558927613
|
|
NM_001164508.2(NEB):c.6075+3A>T
|
rs986325764
|
|
NM_001164508.2(NEB):c.6075+8T>C
|
|
|
NM_001164508.2(NEB):c.6077A>G (p.Lys2026Arg)
|
|
|
NM_001164508.2(NEB):c.6080T>A (p.Leu2027His)
|
|
|
NM_001164508.2(NEB):c.6085A>C (p.Lys2029Gln)
|
rs1387009037
|
|
NM_001164508.2(NEB):c.6143C>T (p.Pro2048Leu)
|
|
|
NM_001164508.2(NEB):c.6179G>T (p.Ser2060Ile)
|
|
|
NM_001164508.2(NEB):c.617T>G (p.Leu206Arg)
|
|
|
NM_001164508.2(NEB):c.6184-17_6184-16del
|
|
|
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1])
|
rs767681176
|
|
NM_001164508.2(NEB):c.6226G>A (p.Val2076Ile)
|
|
|
NM_001164508.2(NEB):c.6241C>T (p.Leu2081Phe)
|
|
|
NM_001164508.2(NEB):c.6242T>G (p.Leu2081Arg)
|
rs2099085781
|
|
NM_001164508.2(NEB):c.6254C>T (p.Pro2085Leu)
|
rs773025267
|
|
NM_001164508.2(NEB):c.6263T>C (p.Val2088Ala)
|
|
|
NM_001164508.2(NEB):c.6271A>C (p.Met2091Leu)
|
|
|
NM_001164508.2(NEB):c.6288G>A (p.Met2096Ile)
|
rs2154149119
|
|
NM_001164508.2(NEB):c.6323A>G (p.Asn2108Ser)
|
rs1558891493
|
|
NM_001164508.2(NEB):c.6340C>T (p.His2114Tyr)
|
|
|
NM_001164508.2(NEB):c.6355A>G (p.Met2119Val)
|
|
|
NM_001164508.2(NEB):c.6394A>G (p.Ile2132Val)
|
rs755394940
|
|
NM_001164508.2(NEB):c.6403A>G (p.Thr2135Ala)
|
|
|
NM_001164508.2(NEB):c.6430T>G (p.Tyr2144Asp)
|
|
|
NM_001164508.2(NEB):c.6455A>G (p.Asn2152Ser)
|
|
|
NM_001164508.2(NEB):c.6467C>G (p.Thr2156Ser)
|
|
|
NM_001164508.2(NEB):c.6493G>A (p.Asp2165Asn)
|
rs1234273631
|
|
NM_001164508.2(NEB):c.6493G>C (p.Asp2165His)
|
rs1234273631
|
|
NM_001164508.2(NEB):c.64G>A (p.Glu22Lys)
|
rs2150994058
|
|
NM_001164508.2(NEB):c.6502T>C (p.Tyr2168His)
|
|
|
NM_001164508.2(NEB):c.6547C>A (p.Pro2183Thr)
|
|
|
NM_001164508.2(NEB):c.6568G>A (p.Glu2190Lys)
|
rs2099082027
|
|
NM_001164508.2(NEB):c.6577A>G (p.Lys2193Glu)
|
|
|
NM_001164508.2(NEB):c.6591A>G (p.Glu2197=)
|
rs1553462437
|
|
NM_001164508.2(NEB):c.6629A>C (p.Asn2210Thr)
|
rs768864684
|
|
NM_001164508.2(NEB):c.662A>G (p.Tyr221Cys)
|
rs571230045
|
|
NM_001164508.2(NEB):c.6660G>A (p.Met2220Ile)
|
rs199766131
|
|
NM_001164508.2(NEB):c.6679C>G (p.Gln2227Glu)
|
|
|
NM_001164508.2(NEB):c.6713C>G (p.Thr2238Ser)
|
|
|
NM_001164508.2(NEB):c.6713C>T (p.Thr2238Ile)
|
|
|
NM_001164508.2(NEB):c.6719A>G (p.Asp2240Gly)
|
rs1362776689
|
|
NM_001164508.2(NEB):c.6730G>A (p.Asp2244Asn)
|
|
|
NM_001164508.2(NEB):c.6778G>A (p.Ala2260Thr)
|
|
|
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn)
|
rs2099075647
|
|
NM_001164508.2(NEB):c.6828G>C (p.Trp2276Cys)
|
rs2099059984
|
|
NM_001164508.2(NEB):c.682A>T (p.Arg228Trp)
|
rs1363435897
|
|
NM_001164508.2(NEB):c.6851A>C (p.Tyr2284Ser)
|
rs778637750
|
|
NM_001164508.2(NEB):c.6867_6869dup (p.Ala2290_Ile2291insAla)
|
|
|
NM_001164508.2(NEB):c.6873T>G (p.Ile2291Met)
|
rs1265000238
|
|
NM_001164508.2(NEB):c.6884T>C (p.Leu2295Pro)
|
rs2099059670
|
|
NM_001164508.2(NEB):c.6914A>T (p.Asp2305Val)
|
|
|
NM_001164508.2(NEB):c.6916-16_6916-8del
|
rs2099021798
|
|
NM_001164508.2(NEB):c.6922T>A (p.Tyr2308Asn)
|
|
|
NM_001164508.2(NEB):c.6923A>G (p.Tyr2308Cys)
|
|
|
NM_001164508.2(NEB):c.6926A>C (p.Lys2309Thr)
|
|
|
NM_001164508.2(NEB):c.6928C>A (p.Gln2310Lys)
|
|
|
NM_001164508.2(NEB):c.6928C>G (p.Gln2310Glu)
|
|
|
NM_001164508.2(NEB):c.6931G>A (p.Gly2311Ser)
|
rs757526825
|
|
NM_001164508.2(NEB):c.6935A>G (p.Tyr2312Cys)
|
|
|
NM_001164508.2(NEB):c.6946C>G (p.Leu2316Val)
|
|
|
NM_001164508.2(NEB):c.6954C>G (p.His2318Gln)
|
|
|
NM_001164508.2(NEB):c.6961G>A (p.Gly2321Arg)
|
rs1575132924
|
|
NM_001164508.2(NEB):c.7003A>G (p.Met2335Val)
|
|
|
NM_001164508.2(NEB):c.7004T>C (p.Met2335Thr)
|
rs769646337
|
|
NM_001164508.2(NEB):c.7025G>C (p.Ser2342Thr)
|
rs372132667
|
|
NM_001164508.2(NEB):c.7033G>C (p.Glu2345Gln)
|
|
|
NM_001164508.2(NEB):c.7039A>G (p.Lys2347Glu)
|
|
|
NM_001164508.2(NEB):c.706G>C (p.Ala236Pro)
|
|
|
NM_001164508.2(NEB):c.709C>T (p.Leu237Phe)
|
|
|
NM_001164508.2(NEB):c.7102C>G (p.Leu2368Val)
|
rs1553449170
|
|
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del)
|
rs1326831435
|
|
NM_001164508.2(NEB):c.7144A>G (p.Lys2382Glu)
|
|
|
NM_001164508.2(NEB):c.7160A>G (p.Gln2387Arg)
|
rs2099020273
|
|
NM_001164508.2(NEB):c.7198G>A (p.Ala2400Thr)
|
|
|
NM_001164508.2(NEB):c.71C>A (p.Pro24Gln)
|
|
|
NM_001164508.2(NEB):c.7207G>C (p.Val2403Leu)
|
|
|
NM_001164508.2(NEB):c.7228-3C>G
|
rs577996029
|
|
NM_001164508.2(NEB):c.7265T>G (p.Ile2422Arg)
|
|
|
NM_001164508.2(NEB):c.727A>G (p.Lys243Glu)
|
|
|
NM_001164508.2(NEB):c.728A>G (p.Lys243Arg)
|
rs1031592589
|
|
NM_001164508.2(NEB):c.7310G>T (p.Arg2437Leu)
|
rs61730780
|
|
NM_001164508.2(NEB):c.7312G>A (p.Ala2438Thr)
|
rs202233025
|
|
NM_001164508.2(NEB):c.7318G>A (p.Glu2440Lys)
|
|
|
NM_001164508.2(NEB):c.7324A>G (p.Ile2442Val)
|
rs1553447698
|
|
NM_001164508.2(NEB):c.7328G>T (p.Ser2443Ile)
|
|
|
NM_001164508.2(NEB):c.7339T>C (p.Tyr2447His)
|
|
|
NM_001164508.2(NEB):c.7369A>C (p.Thr2457Pro)
|
|
|
NM_001164508.2(NEB):c.7372A>G (p.Ser2458Gly)
|
|
|
NM_001164508.2(NEB):c.7373_7374delinsAA (p.Ser2458Lys)
|
|
|
NM_001164508.2(NEB):c.7421A>C (p.Asn2474Thr)
|
|
|
NM_001164508.2(NEB):c.7434A>T (p.Arg2478Ser)
|
|
|
NM_001164508.2(NEB):c.7469A>C (p.Gln2490Pro)
|
rs1446110323
|
|
NM_001164508.2(NEB):c.7487A>G (p.Asp2496Gly)
|
rs767734665
|
|
NM_001164508.2(NEB):c.74G>A (p.Gly25Glu)
|
|
|
NM_001164508.2(NEB):c.7523T>C (p.Ile2508Thr)
|
|
|
NM_001164508.2(NEB):c.7538A>G (p.Lys2513Arg)
|
rs190059793
|
|
NM_001164508.2(NEB):c.7543T>C (p.Tyr2515His)
|
|
|
NM_001164508.2(NEB):c.7549_7551del (p.Met2517del)
|
rs1553985641
|
|
NM_001164508.2(NEB):c.7569G>C (p.Lys2523Asn)
|
|
|
NM_001164508.2(NEB):c.7588C>T (p.Pro2530Ser)
|
|
|
NM_001164508.2(NEB):c.7603C>A (p.Pro2535Thr)
|
|
|
NM_001164508.2(NEB):c.7645-6dup
|
|
|
NM_001164508.2(NEB):c.7646A>G (p.Tyr2549Cys)
|
rs1553984101
|
|
NM_001164508.2(NEB):c.764C>G (p.Pro255Arg)
|
rs1553663195
|
|
NM_001164508.2(NEB):c.7667G>A (p.Arg2556His)
|
|
|
NM_001164508.2(NEB):c.7667G>T (p.Arg2556Leu)
|
|
|
NM_001164508.2(NEB):c.7679G>T (p.Gly2560Val)
|
|
|
NM_001164508.2(NEB):c.7697G>A (p.Arg2566Gln)
|
|
|
NM_001164508.2(NEB):c.7697G>C (p.Arg2566Pro)
|
|
|
NM_001164508.2(NEB):c.7706A>C (p.Glu2569Ala)
|
|
|
NM_001164508.2(NEB):c.7710T>A (p.Asp2570Glu)
|
|
|
NM_001164508.2(NEB):c.771_772inv (p.Asp258Asn)
|
|
|
NM_001164508.2(NEB):c.7733T>C (p.Met2578Thr)
|
|
|
NM_001164508.2(NEB):c.7740G>A (p.Val2580=)
|
rs2098921464
|
|
NM_001164508.2(NEB):c.7751A>G (p.Gln2584Arg)
|
|
|
NM_001164508.2(NEB):c.7762G>A (p.Glu2588Lys)
|
rs756738995
|
|
NM_001164508.2(NEB):c.7769A>G (p.Lys2590Arg)
|
|
|
NM_001164508.2(NEB):c.776C>T (p.Pro259Leu)
|
|
|
NM_001164508.2(NEB):c.778C>T (p.Pro260Ser)
|
rs1425616065
|
|
NM_001164508.2(NEB):c.7802G>A (p.Ser2601Asn)
|
|
|
NM_001164508.2(NEB):c.7837_7839delinsCAC (p.Lys2613His)
|
|
|
NM_001164508.2(NEB):c.7844G>T (p.Cys2615Phe)
|
rs749508488
|
|
NM_001164508.2(NEB):c.7865T>C (p.Val2622Ala)
|
rs563691738
|
|
NM_001164508.2(NEB):c.7867G>A (p.Asp2623Asn)
|
rs543795912
|
|
NM_001164508.2(NEB):c.7882C>G (p.Leu2628Val)
|
rs1222037893
|
|
NM_001164508.2(NEB):c.78G>A (p.Glu26=)
|
rs1553702617
|
|
NM_001164508.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn)
|
rs1574937918
|
|
NM_001164508.2(NEB):c.7915G>A (p.Asp2639Asn)
|
|
|
NM_001164508.2(NEB):c.7925A>G (p.His2642Arg)
|
|
|
NM_001164508.2(NEB):c.7930C>T (p.Arg2644Trp)
|
|
|
NM_001164508.2(NEB):c.7956+13T>C
|
|
|
NM_001164508.2(NEB):c.7957-13C>G
|
|
|
NM_001164508.2(NEB):c.7957-20T>A
|
|
|
NM_001164508.2(NEB):c.7957-7C>T
|
|
|
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys)
|
rs1389374032
|
|
NM_001164508.2(NEB):c.7968G>C (p.Lys2656Asn)
|
|
|
NM_001164508.2(NEB):c.7993A>T (p.Ile2665Phe)
|
rs2098910017
|
|
NM_001164508.2(NEB):c.8027A>G (p.Glu2676Gly)
|
rs2154114705
|
|
NM_001164508.2(NEB):c.8029A>G (p.Lys2677Glu)
|
|
|
NM_001164508.2(NEB):c.8047C>A (p.Gln2683Lys)
|
rs2154114662
|
|
NM_001164508.2(NEB):c.8111A>C (p.Asp2704Ala)
|
rs2098907855
|
|
NM_001164508.2(NEB):c.8111A>T (p.Asp2704Val)
|
|
|
NM_001164508.2(NEB):c.8146A>G (p.Ile2716Val)
|
rs1574917037
|
|
NM_001164508.2(NEB):c.8159A>C (p.His2720Pro)
|
|
|
NM_001164508.2(NEB):c.8161C>A (p.Arg2721Ser)
|
|
|
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys)
|
rs570763682
|
|
NM_001164508.2(NEB):c.8171C>T (p.Thr2724Ile)
|
|
|
NM_001164508.2(NEB):c.8190T>A (p.Asp2730Glu)
|
|
|
NM_001164508.2(NEB):c.8203C>G (p.His2735Asp)
|
rs759848500
|
|
NM_001164508.2(NEB):c.820A>G (p.Lys274Glu)
|
|
|
NM_001164508.2(NEB):c.8213C>T (p.Pro2738Leu)
|
|
|
NM_001164508.2(NEB):c.8219C>A (p.Thr2740Asn)
|
|
|
NM_001164508.2(NEB):c.8219C>T (p.Thr2740Ile)
|
rs763429938
|
|
NM_001164508.2(NEB):c.8221C>T (p.Pro2741Ser)
|
|
|
NM_001164508.2(NEB):c.8251G>A (p.Val2751Ile)
|
|
|
NM_001164508.2(NEB):c.8305G>A (p.Gly2769Ser)
|
|
|
NM_001164508.2(NEB):c.8306G>T (p.Gly2769Val)
|
rs762272453
|
|
NM_001164508.2(NEB):c.8315T>G (p.Met2772Arg)
|
rs1574896797
|
|
NM_001164508.2(NEB):c.8326G>C (p.Ala2776Pro)
|
rs2098890629
|
|
NM_001164508.2(NEB):c.8333C>T (p.Pro2778Leu)
|
rs2154112954
|
|
NM_001164508.2(NEB):c.8341G>T (p.Ala2781Ser)
|
rs1160244999
|
|
NM_001164508.2(NEB):c.8344_8345delinsTT (p.Ala2782Phe)
|
|
|
NM_001164508.2(NEB):c.8350G>A (p.Ala2784Thr)
|
|
|
NM_001164508.2(NEB):c.8353T>C (p.Ser2785Pro)
|
rs398124173
|
|
NM_001164508.2(NEB):c.8359G>A (p.Asp2787Asn)
|
|
|
NM_001164508.2(NEB):c.8374-10C>A
|
|
|
NM_001164508.2(NEB):c.8374-3T>C
|
rs2154105691
|
|
NM_001164508.2(NEB):c.8383A>G (p.Lys2795Glu)
|
|
|
NM_001164508.2(NEB):c.8386G>A (p.Glu2796Lys)
|
|
|
NM_001164508.2(NEB):c.8387A>G (p.Glu2796Gly)
|
|
|
NM_001164508.2(NEB):c.8395C>G (p.Arg2799Gly)
|
rs779321118
|
|
NM_001164508.2(NEB):c.8395C>T (p.Arg2799Cys)
|
|
|
NM_001164508.2(NEB):c.8398A>G (p.Lys2800Glu)
|
|
|
NM_001164508.2(NEB):c.8422G>T (p.Ala2808Ser)
|
|
|
NM_001164508.2(NEB):c.8434C>A (p.Arg2812Ser)
|
rs747131655
|
|
NM_001164508.2(NEB):c.8435G>A (p.Arg2812His)
|
|
|
NM_001164508.2(NEB):c.8461A>G (p.Met2821Val)
|
rs2098834032
|
|
NM_001164508.2(NEB):c.8485G>A (p.Asp2829Asn)
|
|
|
NM_001164508.2(NEB):c.8493G>T (p.Glu2831Asp)
|
rs2098833761
|
|
NM_001164508.2(NEB):c.8498A>G (p.Lys2833Arg)
|
|
|
NM_001164508.2(NEB):c.8515T>A (p.Trp2839Arg)
|
|
|
NM_001164508.2(NEB):c.8530A>T (p.Ser2844Cys)
|
|
|
NM_001164508.2(NEB):c.8547G>C (p.Met2849Ile)
|
rs2098833299
|
|
NM_001164508.2(NEB):c.8554G>T (p.Val2852Leu)
|
rs1256097684
|
|
NM_001164508.2(NEB):c.8584G>T (p.Val2862Phe)
|
rs949616238
|
|
NM_001164508.2(NEB):c.8590G>T (p.Asp2864Tyr)
|
|
|
NM_001164508.2(NEB):c.8597A>G (p.Asp2866Gly)
|
rs370002964
|
|
NM_001164508.2(NEB):c.8598C>G (p.Asp2866Glu)
|
rs1553966356
|
|
NM_001164508.2(NEB):c.8599T>C (p.Tyr2867His)
|
|
|
NM_001164508.2(NEB):c.85A>G (p.Thr29Ala)
|
|
|
NM_001164508.2(NEB):c.8609A>G (p.Tyr2870Cys)
|
|
|
NM_001164508.2(NEB):c.8615A>G (p.His2872Arg)
|
rs2098832647
|
|
NM_001164508.2(NEB):c.8617C>A (p.Gln2873Lys)
|
|
|
NM_001164508.2(NEB):c.8620T>A (p.Trp2874Arg)
|
rs2154104967
|
|
NM_001164508.2(NEB):c.8648T>C (p.Val2883Ala)
|
rs2098832346
|
|
NM_001164508.2(NEB):c.8659C>T (p.Arg2887Trp)
|
rs748618562
|
|
NM_001164508.2(NEB):c.8666C>G (p.Ala2889Gly)
|
|
|
NM_001164508.2(NEB):c.8668T>G (p.Tyr2890Asp)
|
|
|
NM_001164508.2(NEB):c.8680A>C (p.Ser2894Arg)
|
|
|
NM_001164508.2(NEB):c.8681G>A (p.Ser2894Asn)
|
rs1420993227
|
|
NM_001164508.2(NEB):c.8685+3G>A
|
|
|
NM_001164508.2(NEB):c.8686-3C>T
|
rs2098827787
|
|
NM_001164508.2(NEB):c.8693A>G (p.Tyr2898Cys)
|
|
|
NM_001164508.2(NEB):c.8717G>C (p.Arg2906Thr)
|
rs2154103510
|
|
NM_001164508.2(NEB):c.8722A>C (p.Ile2908Leu)
|
|
|
NM_001164508.2(NEB):c.8726G>C (p.Gly2909Ala)
|
|
|
NM_001164508.2(NEB):c.8733_8734inv (p.Ser2912Pro)
|
|
|
NM_001164508.2(NEB):c.8789A>G (p.Asp2930Gly)
|
rs979095688
|
|
NM_001164508.2(NEB):c.8790T>G (p.Asp2930Glu)
|
|
|
NM_001164508.2(NEB):c.8793A>C (p.Lys2931Asn)
|
rs764708311
|
|
NM_001164508.2(NEB):c.8794A>G (p.Ile2932Val)
|
rs2098826922
|
|
NM_001164508.2(NEB):c.8831G>A (p.Ser2944Asn)
|
|
|
NM_001164508.2(NEB):c.8851C>G (p.Gln2951Glu)
|
rs2154103068
|
|
NM_001164508.2(NEB):c.8876T>A (p.Ile2959Asn)
|
rs1228319024
|
|
NM_001164508.2(NEB):c.8891G>A (p.Arg2964His)
|
|
|
NM_001164508.2(NEB):c.8897A>G (p.Tyr2966Cys)
|
rs1560822452
|
|
NM_001164508.2(NEB):c.8982C>G (p.Ile2994Met)
|
rs1251791997
|
|
NM_001164508.2(NEB):c.8997T>A (p.Ser2999Arg)
|
rs2154090899
|
|
NM_001164508.2(NEB):c.9002A>G (p.Tyr3001Cys)
|
rs1574635522
|
|
NM_001164508.2(NEB):c.902_903delinsAT (p.Arg301Asn)
|
rs2099741678
|
|
NM_001164508.2(NEB):c.9046C>G (p.Arg3016Gly)
|
rs1057517977
|
|
NM_001164508.2(NEB):c.904A>G (p.Met302Val)
|
rs755508128
|
|
NM_001164508.2(NEB):c.9052G>T (p.Asp3018Tyr)
|
|
|
NM_001164508.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del)
|
rs1165631470
|
|
NM_001164508.2(NEB):c.9056C>T (p.Ala3019Val)
|
rs1394119778
|
|
NM_001164508.2(NEB):c.906G>A (p.Met302Ile)
|
|
|
NM_001164508.2(NEB):c.9077A>G (p.Lys3026Arg)
|
|
|
NM_001164508.2(NEB):c.9102C>A (p.Asp3034Glu)
|
|
|
NM_001164508.2(NEB):c.9108A>T (p.Lys3036Asn)
|
|
|
NM_001164508.2(NEB):c.9118G>A (p.Gly3040Ser)
|
rs758739517
|
|
NM_001164508.2(NEB):c.9124_9125inv (p.Cys3042His)
|
|
|
NM_001164508.2(NEB):c.9176A>G (p.Lys3059Arg)
|
|
|
NM_001164508.2(NEB):c.9193C>T (p.His3065Tyr)
|
|
|
NM_001164508.2(NEB):c.9296A>G (p.Lys3099Arg)
|
|
|
NM_001164508.2(NEB):c.9336C>G (p.Asn3112Lys)
|
|
|
NM_001164508.2(NEB):c.9351G>T (p.Trp3117Cys)
|
|
|
NM_001164508.2(NEB):c.9365A>G (p.Asp3122Gly)
|
rs2154080790
|
|
NM_001164508.2(NEB):c.9371G>A (p.Ser3124Asn)
|
|
|
NM_001164508.2(NEB):c.9374A>G (p.Asp3125Gly)
|
|
|
NM_001164508.2(NEB):c.9383A>G (p.His3128Arg)
|
rs1460535254
|
|
NM_001164508.2(NEB):c.9389G>A (p.Arg3130Gln)
|
|
|
NM_001164508.2(NEB):c.938A>G (p.Gln313Arg)
|
rs1559506055
|
|
NM_001164508.2(NEB):c.9398A>G (p.Tyr3133Cys)
|
|
|
NM_001164508.2(NEB):c.9407A>G (p.Gln3136Arg)
|
|
|
NM_001164508.2(NEB):c.9414+5G>A
|
rs2154080637
|
|
NM_001164508.2(NEB):c.9439T>G (p.Trp3147Gly)
|
rs2098662413
|
|
NM_001164508.2(NEB):c.943G>T (p.Asp315Tyr)
|
|
|
NM_001164508.2(NEB):c.9448G>A (p.Gly3150Ser)
|
|
|
NM_001164508.2(NEB):c.9463C>A (p.Pro3155Thr)
|
|
|
NM_001164508.2(NEB):c.9466A>T (p.Ile3156Phe)
|
rs749280613
|
|
NM_001164508.2(NEB):c.9467T>C (p.Ile3156Thr)
|
rs145770770
|
|
NM_001164508.2(NEB):c.946T>C (p.Phe316Leu)
|
rs2150019628
|
|
NM_001164508.2(NEB):c.9473C>T (p.Ser3158Phe)
|
|
|
NM_001164508.2(NEB):c.9476T>C (p.Met3159Thr)
|
|
|
NM_001164508.2(NEB):c.9481G>A (p.Val3161Met)
|
rs1560693635
|
|
NM_001164508.2(NEB):c.9488A>G (p.Lys3163Arg)
|
|
|
NM_001164508.2(NEB):c.9490T>C (p.Cys3164Arg)
|
rs1292713138
|
|
NM_001164508.2(NEB):c.9494A>G (p.Lys3165Arg)
|
rs771512413
|
|
NM_001164508.2(NEB):c.9503C>T (p.Thr3168Ile)
|
rs2098661076
|
|
NM_001164508.2(NEB):c.9530G>A (p.Arg3177His)
|
|
|
NM_001164508.2(NEB):c.9542A>C (p.Asp3181Ala)
|
rs767042929
|
|
NM_001164508.2(NEB):c.9542A>G (p.Asp3181Gly)
|
|
|
NM_001164508.2(NEB):c.9550A>G (p.Lys3184Glu)
|
|
|
NM_001164508.2(NEB):c.9551A>T (p.Lys3184Ile)
|
rs2154073147
|
|
NM_001164508.2(NEB):c.9556A>T (p.Thr3186Ser)
|
rs2154073125
|
|
NM_001164508.2(NEB):c.955A>G (p.Met319Val)
|
rs1269690979
|
|
NM_001164508.2(NEB):c.9562G>A (p.Val3188Met)
|
|
|
NM_001164508.2(NEB):c.9586C>G (p.Leu3196Val)
|
|
|
NM_001164508.2(NEB):c.9587T>G (p.Leu3196Arg)
|
rs754001835
|
|
NM_001164508.2(NEB):c.9590C>T (p.Ala3197Val)
|
rs778131603
|
|
NM_001164508.2(NEB):c.9619C>A (p.Arg3207Ser)
|
rs200351671
|
|
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys)
|
rs200351671
|
|
NM_001164508.2(NEB):c.9620G>T (p.Arg3207Leu)
|
rs111841612
|
|
NM_001164508.2(NEB):c.9643A>G (p.Lys3215Glu)
|
|
|
NM_001164508.2(NEB):c.9659T>G (p.Ile3220Ser)
|
rs2098651541
|
|
NM_001164508.2(NEB):c.9690G>A (p.Met3230Ile)
|
|
|
NM_001164508.2(NEB):c.9694G>A (p.Ala3232Thr)
|
rs1329330602
|
|
NM_001164508.2(NEB):c.9704A>G (p.Asn3235Ser)
|
|
|
NM_001164508.2(NEB):c.9712A>G (p.Asn3238Asp)
|
|
|
NM_001164508.2(NEB):c.9723+4G>A
|
rs577635321
|
|
NM_001164508.2(NEB):c.9725C>G (p.Thr3242Ser)
|
|
|
NM_001164508.2(NEB):c.9749A>C (p.Glu3250Ala)
|
|
|
NM_001164508.2(NEB):c.9751G>A (p.Ala3251Thr)
|
|
|
NM_001164508.2(NEB):c.9754A>C (p.Lys3252Gln)
|
|
|
NM_001164508.2(NEB):c.9760A>C (p.Lys3254Gln)
|
|
|
NM_001164508.2(NEB):c.9790C>G (p.Pro3264Ala)
|
rs755708498
|
|
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg)
|
rs1553934027
|
|
NM_001164508.2(NEB):c.9836A>G (p.Lys3279Arg)
|
rs772766917
|
|
NM_001164508.2(NEB):c.9848G>T (p.Gly3283Val)
|
rs2098553051
|
|
NM_001164508.2(NEB):c.985G>A (p.Glu329Lys)
|
rs753638647
|
|
NM_001164508.2(NEB):c.9868C>T (p.His3290Tyr)
|
|
|
NM_001164508.2(NEB):c.9871C>G (p.His3291Asp)
|
rs2154061498
|
|
NM_001164508.2(NEB):c.9889A>G (p.Ile3297Val)
|
rs1245785481
|
|
NM_001164508.2(NEB):c.9917C>T (p.Ser3306Phe)
|
rs2154061189
|
|
NM_001164508.2(NEB):c.9919A>G (p.Met3307Val)
|
|
|
NM_001164508.2(NEB):c.9921G>A (p.Met3307Ile)
|
rs756185799
|
|
NM_001164508.2(NEB):c.9922C>T (p.His3308Tyr)
|
rs1369787156
|
|
NM_001164508.2(NEB):c.9925G>A (p.Val3309Met)
|
|
|
NM_001164508.2(NEB):c.9947G>A (p.Arg3316Lys)
|
|
|
NM_001164508.2(NEB):c.9959A>T (p.Lys3320Met)
|
rs373285394
|
|
NM_001164508.2(NEB):c.9960G>C (p.Lys3320Asn)
|
|
|
NM_001271208.1(NEB):c.21213_21218del
|
rs1553683577
|
|
NM_001278188.2(TPM3):c.69-3046CTGAGG[3]
|
|
|
NM_006063.3(KLHL41):c.101A>G (p.Asp34Gly)
|
rs2105307804
|
|
NM_006063.3(KLHL41):c.1055G>T (p.Gly352Val)
|
|
|
NM_006063.3(KLHL41):c.1076A>G (p.Asn359Ser)
|
|
|
NM_006063.3(KLHL41):c.1081G>T (p.Asp361Tyr)
|
|
|
NM_006063.3(KLHL41):c.1110+6_1110+8del
|
rs1186579373
|
|
NM_006063.3(KLHL41):c.1114G>C (p.Asp372His)
|
|
|
NM_006063.3(KLHL41):c.1116T>C (p.Asp372=)
|
rs762618255
|
|
NM_006063.3(KLHL41):c.1135G>A (p.Val379Ile)
|
rs751438442
|
|
NM_006063.3(KLHL41):c.1183G>A (p.Glu395Lys)
|
rs1684085913
|
|
NM_006063.3(KLHL41):c.1192G>T (p.Asp398Tyr)
|
rs1574351200
|
|
NM_006063.3(KLHL41):c.1202A>G (p.Tyr401Cys)
|
rs2105309733
|
|
NM_006063.3(KLHL41):c.1205T>C (p.Val402Ala)
|
rs1684086471
|
|
NM_006063.3(KLHL41):c.1225C>G (p.Gln409Glu)
|
rs1168210084
|
|
NM_006063.3(KLHL41):c.1268T>C (p.Val423Ala)
|
rs1225657950
|
|
NM_006063.3(KLHL41):c.1273G>A (p.Ala425Thr)
|
rs1451090688
|
|
NM_006063.3(KLHL41):c.1276A>G (p.Lys426Glu)
|
rs750512280
|
|
NM_006063.3(KLHL41):c.1313A>G (p.Tyr438Cys)
|
|
|
NM_006063.3(KLHL41):c.1363A>C (p.Lys455Gln)
|
rs940791315
|
|
NM_006063.3(KLHL41):c.1393G>A (p.Val465Met)
|
|
|
NM_006063.3(KLHL41):c.1393G>T (p.Val465Leu)
|
|
|
NM_006063.3(KLHL41):c.1409C>T (p.Pro470Leu)
|
rs779897118
|
|
NM_006063.3(KLHL41):c.1412A>G (p.Lys471Arg)
|
|
|
NM_006063.3(KLHL41):c.1438C>T (p.Pro480Ser)
|
|
|
NM_006063.3(KLHL41):c.1464T>G (p.Phe488Leu)
|
rs2105311166
|
|
NM_006063.3(KLHL41):c.1468G>A (p.Val490Ile)
|
|
|
NM_006063.3(KLHL41):c.146T>C (p.Leu49Ser)
|
rs1684003271
|
|
NM_006063.3(KLHL41):c.1477C>T (p.His493Tyr)
|
rs2105311181
|
|
NM_006063.3(KLHL41):c.1528G>C (p.Ala510Pro)
|
|
|
NM_006063.3(KLHL41):c.1580A>G (p.Glu527Gly)
|
rs2105312517
|
|
NM_006063.3(KLHL41):c.1590A>G (p.Gln530=)
|
|
|
NM_006063.3(KLHL41):c.1603A>T (p.Ile535Phe)
|
rs2105312532
|
|
NM_006063.3(KLHL41):c.1624G>C (p.Gly542Arg)
|
|
|
NM_006063.3(KLHL41):c.1654A>G (p.Met552Val)
|
|
|
NM_006063.3(KLHL41):c.1662A>T (p.Gln554His)
|
rs747439201
|
|
NM_006063.3(KLHL41):c.170_171delinsCT (p.Tyr57Ser)
|
rs1684004022
|
|
NM_006063.3(KLHL41):c.1717GAT[3] (p.Asp574dup)
|
rs765973620
|
|
NM_006063.3(KLHL41):c.1789C>A (p.Arg597Ser)
|
rs1033276582
|
|
NM_006063.3(KLHL41):c.199G>C (p.Asp67His)
|
rs1446324489
|
|
NM_006063.3(KLHL41):c.223G>A (p.Val75Met)
|
|
|
NM_006063.3(KLHL41):c.229G>C (p.Asp77His)
|
rs1222243445
|
|
NM_006063.3(KLHL41):c.22G>A (p.Ala8Thr)
|
rs1684001399
|
|
NM_006063.3(KLHL41):c.233A>G (p.Asn78Ser)
|
|
|
NM_006063.3(KLHL41):c.241C>T (p.Pro81Ser)
|
|
|
NM_006063.3(KLHL41):c.266A>G (p.Lys89Arg)
|
|
|
NM_006063.3(KLHL41):c.314A>G (p.Asp105Gly)
|
|
|
NM_006063.3(KLHL41):c.318T>G (p.Ile106Met)
|
rs1684007542
|
|
NM_006063.3(KLHL41):c.335G>A (p.Arg112His)
|
|
|
NM_006063.3(KLHL41):c.376C>G (p.Leu126Val)
|
|
|
NM_006063.3(KLHL41):c.391G>A (p.Ala131Thr)
|
rs1202015569
|
|
NM_006063.3(KLHL41):c.427CTT[2] (p.Leu145del)
|
rs760524187
|
|
NM_006063.3(KLHL41):c.431T>C (p.Leu144Pro)
|
|
|
NM_006063.3(KLHL41):c.458C>A (p.Ser153Tyr)
|
rs1684010288
|
|
NM_006063.3(KLHL41):c.463C>T (p.Arg155Cys)
|
|
|
NM_006063.3(KLHL41):c.464G>A (p.Arg155His)
|
|
|
NM_006063.3(KLHL41):c.495T>G (p.Ile165Met)
|
|
|
NM_006063.3(KLHL41):c.50C>G (p.Thr17Ser)
|
|
|
NM_006063.3(KLHL41):c.519A>T (p.Gln173His)
|
rs144844327
|
|
NM_006063.3(KLHL41):c.524C>G (p.Ser175Cys)
|
rs1684011448
|
|
NM_006063.3(KLHL41):c.52C>T (p.Leu18Phe)
|
|
|
NM_006063.3(KLHL41):c.539T>A (p.Ile180Asn)
|
|
|
NM_006063.3(KLHL41):c.558C>G (p.Asp186Glu)
|
|
|
NM_006063.3(KLHL41):c.61G>C (p.Asp21His)
|
|
|
NM_006063.3(KLHL41):c.631A>G (p.Arg211Gly)
|
rs1684012984
|
|
NM_006063.3(KLHL41):c.65G>C (p.Gly22Ala)
|
rs780361528
|
|
NM_006063.3(KLHL41):c.661T>A (p.Cys221Ser)
|
rs2105308096
|
|
NM_006063.3(KLHL41):c.734A>T (p.Asn245Ile)
|
rs1684014413
|
|
NM_006063.3(KLHL41):c.73G>A (p.Asp25Asn)
|
|
|
NM_006063.3(KLHL41):c.73G>T (p.Asp25Tyr)
|
|
|
NM_006063.3(KLHL41):c.743T>C (p.Leu248Pro)
|
rs1684014498
|
|
NM_006063.3(KLHL41):c.769G>C (p.Asp257His)
|
rs916111973
|
|
NM_006063.3(KLHL41):c.784A>G (p.Lys262Glu)
|
rs759037384
|
|
NM_006063.3(KLHL41):c.807T>A (p.Asn269Lys)
|
rs1684016282
|
|
NM_006063.3(KLHL41):c.869G>A (p.Gly290Asp)
|
|
|
NM_006063.3(KLHL41):c.869G>C (p.Gly290Ala)
|
|
|
NM_006063.3(KLHL41):c.931G>A (p.Asp311Asn)
|
|
|
NM_006063.3(KLHL41):c.935C>T (p.Thr312Ile)
|
|
|
NM_006063.3(KLHL41):c.959C>A (p.Thr320Lys)
|
rs781536513
|
|
NM_152263.4(TPM3):c.118-3T>C
|
rs375206251
|
|
NM_152263.4(TPM3):c.118-3_118-2del
|
|
|
NM_152263.4(TPM3):c.118C>G (p.Leu40Val)
|
rs1160675914
|
|
NM_152263.4(TPM3):c.118C>T (p.Leu40=)
|
|
|
NM_152263.4(TPM3):c.11C>T (p.Ala4Val)
|
rs199474711
|
|
NM_152263.4(TPM3):c.124G>A (p.Asp42Asn)
|
rs1663671899
|
|
NM_152263.4(TPM3):c.163G>A (p.Glu55Lys)
|
rs2148294608
|
|
NM_152263.4(TPM3):c.185_193del (p.Ser62_Ala64del)
|
|
|
NM_152263.4(TPM3):c.19A>G (p.Lys7Glu)
|
|
|
NM_152263.4(TPM3):c.212A>T (p.Lys71Met)
|
rs2148294477
|
|
NM_152263.4(TPM3):c.229AAG[1] (p.Lys78del)
|
rs2148294430
|
|
NM_152263.4(TPM3):c.235G>C (p.Ala79Pro)
|
|
|
NM_152263.4(TPM3):c.245C>T (p.Ala82Val)
|
|
|
NM_152263.4(TPM3):c.273_281del (p.Arg92_Gln94del)
|
|
|
NM_152263.4(TPM3):c.301G>A (p.Asp101Asn)
|
rs2148257542
|
|
NM_152263.4(TPM3):c.317G>A (p.Arg106His)
|
|
|
NM_152263.4(TPM3):c.346G>A (p.Glu116Lys)
|
|
|
NM_152263.4(TPM3):c.401G>A (p.Arg134Gln)
|
rs769493959
|
|
NM_152263.4(TPM3):c.412G>C (p.Asp138His)
|
rs2148242185
|
|
NM_152263.4(TPM3):c.466G>A (p.Ala156Thr)
|
rs199474714
|
|
NM_152263.4(TPM3):c.494A>G (p.Glu165Gly)
|
rs1661790334
|
|
NM_152263.4(TPM3):c.503G>T (p.Arg168Leu)
|
|
|
NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)
|
|
|
NM_152263.4(TPM3):c.589_590delinsAT (p.Glu197Met)
|
rs2148235398
|
|
NM_152263.4(TPM3):c.635C>T (p.Ala212Val)
|
|
|
NM_152263.4(TPM3):c.705+12G>T
|
|
|
NM_152263.4(TPM3):c.706-2dup
|
rs1085307588
|
|
NM_152263.4(TPM3):c.706-3C>T
|
rs750493083
|
|
NM_152263.4(TPM3):c.706-6C>T
|
rs1661447571
|
|
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys)
|
rs1661445206
|
|
NM_152263.4(TPM3):c.716G>A (p.Arg239His)
|
|
|
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu)
|
rs1553248522
|
|
NM_152263.4(TPM3):c.760A>G (p.Ile254Val)
|
rs1553248513
|
|
NM_152263.4(TPM3):c.763G>A (p.Asp255Asn)
|
|
|
NM_152263.4(TPM3):c.775+6G>T
|
|
|
NM_152263.4(TPM3):c.776-18G>T
|
|
|
NM_152263.4(TPM3):c.821A>C (p.Glu274Ala)
|
|
|
NM_152263.4(TPM3):c.85G>A (p.Glu29Lys)
|
rs1663696530
|
|
NM_152263.4(TPM3):c.88C>G (p.Gln30Glu)
|
rs1160965388
|
|
NM_152263.4(TPM3):c.8A>C (p.Glu3Ala)
|
|
|