NM_003172.4(SURF1):c.*118T>C
|
rs4962133
|
0.05734
|
NM_003172.4(SURF1):c.573C>G (p.Thr191=)
|
rs28715079
|
0.05492
|
NM_003172.4(SURF1):c.280T>C (p.Leu94=)
|
rs28615629
|
0.04975
|
NM_003172.4(SURF1):c.751+6T>C
|
rs41296099
|
0.01414
|
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly)
|
rs116779216
|
0.01318
|
NM_003172.4(SURF1):c.543C>T (p.Phe181=)
|
rs62637580
|
0.01036
|
NM_003172.4(SURF1):c.604G>C (p.Asp202His)
|
rs72619327
|
0.00517
|
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys)
|
rs147312193
|
0.00385
|
NM_003172.4(SURF1):c.834-13T>C
|
rs139870012
|
0.00318
|
NM_003172.4(SURF1):c.*47G>A
|
rs138050767
|
0.00242
|
NM_003172.4(SURF1):c.211G>C (p.Val71Leu)
|
rs147993882
|
0.00099
|
NM_003172.4(SURF1):c.687T>C (p.Tyr229=)
|
rs373154583
|
0.00030
|
NM_003172.4(SURF1):c.833+13C>T
|
rs368685731
|
0.00027
|
NM_003172.4(SURF1):c.108G>A (p.Gly36=)
|
rs201675965
|
0.00024
|
NM_003172.4(SURF1):c.657G>A (p.Glu219=)
|
rs149494670
|
0.00019
|
NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser)
|
rs145615218
|
0.00017
|
NM_003172.4(SURF1):c.833+15G>A
|
rs202237153
|
0.00017
|
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp)
|
rs587669420
|
0.00016
|
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser)
|
rs200702528
|
0.00010
|
NM_003172.4(SURF1):c.17C>T (p.Ala6Val)
|
rs587727919
|
0.00009
|
NM_003172.4(SURF1):c.240+9C>T
|
rs376459836
|
0.00009
|
NM_003172.4(SURF1):c.720C>T (p.Gly240=)
|
rs200407815
|
0.00008
|
NM_003172.4(SURF1):c.833+14G>A
|
rs375695890
|
0.00008
|
NM_003172.4(SURF1):c.879C>T (p.Phe293=)
|
rs145088629
|
0.00008
|
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg)
|
rs201822068
|
0.00008
|
NM_003172.4(SURF1):c.321C>T (p.Ala107=)
|
rs141425824
|
0.00007
|
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)
|
rs782623477
|
0.00007
|
NM_003172.4(SURF1):c.240+5A>T
|
rs370901434
|
0.00006
|
NM_003172.4(SURF1):c.352A>T (p.Arg118Trp)
|
rs201492662
|
0.00006
|
NM_003172.4(SURF1):c.751+4C>T
|
rs782184113
|
0.00006
|
NM_003172.4(SURF1):c.807C>T (p.Asn269=)
|
rs150726485
|
0.00006
|
NM_003172.4(SURF1):c.825C>T (p.Ile275=)
|
rs372660779
|
0.00006
|
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn)
|
rs863224226
|
0.00005
|
NM_003172.4(SURF1):c.439C>T (p.Arg147Trp)
|
rs151258319
|
0.00005
|
NM_003172.4(SURF1):c.507C>T (p.Thr169=)
|
rs782614599
|
0.00005
|
NM_003172.4(SURF1):c.834-4C>T
|
rs375626121
|
0.00005
|
NM_003172.4(SURF1):c.240+1G>T
|
rs781948238
|
0.00004
|
NM_003172.4(SURF1):c.324-11T>C
|
rs375398247
|
0.00004
|
NM_003172.4(SURF1):c.342T>A (p.Asn114Lys)
|
rs146580899
|
0.00004
|
NM_003172.4(SURF1):c.36G>A (p.Arg12=)
|
rs888052160
|
0.00004
|
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn)
|
rs782358655
|
0.00004
|
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)
|
rs782190413
|
0.00004
|
NM_003172.4(SURF1):c.591T>A (p.Ile197=)
|
rs373355971
|
0.00004
|
NM_003172.4(SURF1):c.594G>A (p.Glu198=)
|
rs144427528
|
0.00004
|
NM_003172.4(SURF1):c.834-19G>A
|
rs1427282719
|
0.00004
|
NM_003172.4(SURF1):c.10G>A (p.Val4Met)
|
rs1169550986
|
0.00003
|
NM_003172.4(SURF1):c.328A>G (p.Met110Val)
|
rs782754332
|
0.00003
|
NM_003172.4(SURF1):c.514G>A (p.Gly172Arg)
|
rs1396233239
|
0.00003
|
NM_003172.4(SURF1):c.721G>A (p.Ala241Thr)
|
rs782157083
|
0.00003
|
NM_003172.4(SURF1):c.736A>G (p.Ile246Val)
|
rs782480169
|
0.00003
|
NM_003172.4(SURF1):c.751+5G>A
|
rs781934508
|
0.00003
|
NM_003172.4(SURF1):c.752-4dup
|
rs1159512660
|
0.00003
|
NM_003172.4(SURF1):c.826G>A (p.Val276Met)
|
rs141561701
|
0.00003
|
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp)
|
rs373551988
|
0.00002
|
NM_003172.4(SURF1):c.437C>T (p.Ala146Val)
|
rs140443050
|
0.00002
|
NM_003172.4(SURF1):c.447C>T (p.Gly149=)
|
rs782511878
|
0.00002
|
NM_003172.4(SURF1):c.516-2A>G
|
rs782682492
|
0.00002
|
NM_003172.4(SURF1):c.516-8T>C
|
rs374829956
|
0.00002
|
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter)
|
rs147816470
|
0.00002
|
NM_003172.4(SURF1):c.589-9C>G
|
rs375758001
|
0.00002
|
NM_003172.4(SURF1):c.643C>G (p.Pro215Ala)
|
rs147165855
|
0.00002
|
NM_003172.4(SURF1):c.834-5C>T
|
rs370520197
|
0.00002
|
NM_003172.4(SURF1):c.897del (p.Val300fs)
|
rs782010013
|
0.00002
|
NM_003172.4(SURF1):c.106+15C>G
|
rs781892153
|
0.00001
|
NM_003172.4(SURF1):c.107-14G>A
|
rs782090285
|
0.00001
|
NM_003172.4(SURF1):c.107-19G>A
|
rs782610286
|
0.00001
|
NM_003172.4(SURF1):c.118A>T (p.Arg40Trp)
|
rs781831910
|
0.00001
|
NM_003172.4(SURF1):c.169G>A (p.Glu57Lys)
|
rs782410389
|
0.00001
|
NM_003172.4(SURF1):c.185T>G (p.Leu62Arg)
|
rs782125974
|
0.00001
|
NM_003172.4(SURF1):c.225C>T (p.Gly75=)
|
rs948692485
|
0.00001
|
NM_003172.4(SURF1):c.228G>A (p.Leu76=)
|
rs1334031754
|
0.00001
|
NM_003172.4(SURF1):c.240+10G>A
|
rs782763797
|
0.00001
|
NM_003172.4(SURF1):c.241-20C>T
|
rs368476982
|
0.00001
|
NM_003172.4(SURF1):c.241-7A>C
|
rs997493975
|
0.00001
|
NM_003172.4(SURF1):c.248G>A (p.Arg83His)
|
rs1370356387
|
0.00001
|
NM_003172.4(SURF1):c.251G>A (p.Arg84Gln)
|
rs782044026
|
0.00001
|
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)
|
rs782024654
|
0.00001
|
NM_003172.4(SURF1):c.309C>T (p.Val103=)
|
rs782203738
|
0.00001
|
NM_003172.4(SURF1):c.323+15G>C
|
rs1836518077
|
0.00001
|
NM_003172.4(SURF1):c.324-5T>C
|
rs140805315
|
0.00001
|
NM_003172.4(SURF1):c.335T>C (p.Leu112Pro)
|
rs782811025
|
0.00001
|
NM_003172.4(SURF1):c.366C>T (p.Val122=)
|
rs886063630
|
0.00001
|
NM_003172.4(SURF1):c.40G>A (p.Ala14Thr)
|
rs863224224
|
0.00001
|
NM_003172.4(SURF1):c.412A>C (p.Thr138Pro)
|
rs1227317118
|
0.00001
|
NM_003172.4(SURF1):c.448G>A (p.Gly150Ser)
|
rs1371101979
|
0.00001
|
NM_003172.4(SURF1):c.461C>T (p.Ser154Phe)
|
rs1392714895
|
0.00001
|
NM_003172.4(SURF1):c.491C>T (p.Thr164Ile)
|
rs782214884
|
0.00001
|
NM_003172.4(SURF1):c.544G>A (p.Val182Ile)
|
rs782638354
|
0.00001
|
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)
|
rs782021521
|
0.00001
|
NM_003172.4(SURF1):c.603G>A (p.Val201=)
|
rs782635006
|
0.00001
|
NM_003172.4(SURF1):c.629C>T (p.Thr210Ile)
|
rs1836455088
|
0.00001
|
NM_003172.4(SURF1):c.649G>A (p.Val217Ile)
|
rs1836454464
|
0.00001
|
NM_003172.4(SURF1):c.708C>A (p.Ala236=)
|
rs782596103
|
0.00001
|
NM_003172.4(SURF1):c.751+9T>C
|
rs782649117
|
0.00001
|
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)
|
rs121918657
|
0.00001
|
NM_003172.4(SURF1):c.752-1G>C
|
rs1391748504
|
0.00001
|
NM_003172.4(SURF1):c.752-4A>C
|
rs1458022944
|
0.00001
|
NM_003172.4(SURF1):c.801G>A (p.Leu267=)
|
rs782120692
|
0.00001
|
NM_003172.4(SURF1):c.804G>C (p.Arg268Ser)
|
rs781880723
|
0.00001
|
NM_003172.4(SURF1):c.808G>A (p.Glu270Lys)
|
rs781924765
|
0.00001
|
NM_003172.4(SURF1):c.833+11A>G
|
rs1036443876
|
0.00001
|
NM_003172.4(SURF1):c.834G>A (p.Trp278Ter)
|
rs782601312
|
0.00001
|
NM_003172.4(SURF1):c.836A>G (p.Tyr279Cys)
|
rs587758543
|
0.00001
|
NM_003172.4(SURF1):c.850G>A (p.Ala284Thr)
|
rs781902619
|
0.00001
|
NM_003172.4(SURF1):c.865T>G (p.Trp289Gly)
|
rs373591762
|
0.00001
|
NM_003172.4(SURF1):c.889A>C (p.Thr297Pro)
|
rs782620122
|
0.00001
|
NM_003172.4(SURF1):c.897T>C (p.Gly299=)
|
rs76574453
|
0.00001
|
NM_003172.4(SURF1):c.900G>C (p.Val300=)
|
rs781873188
|
0.00001
|
NC_000009.11:g.(?_136223104)_(136223329_?)dup
|
|
|
NC_000009.12:g.133352139CT[1]
|
|
|
NC_000009.12:g.133352606_133352609del
|
|
|
NC_000009.12:g.133354954_133354958del
|
|
|
NC_000009.12:g.133354958dup
|
|
|
NM_003172.2(SURF1):c.-37C>T
|
rs523304
|
|
NM_003172.4(SURF1):c.*93C>T
|
rs1836416878
|
|
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)
|
rs863224229
|
|
NM_003172.4(SURF1):c.106+10G>A
|
|
|
NM_003172.4(SURF1):c.106+12A>G
|
|
|
NM_003172.4(SURF1):c.106+14G>A
|
|
|
NM_003172.4(SURF1):c.106+15C>T
|
rs781892153
|
|
NM_003172.4(SURF1):c.106+15_106+16insA
|
|
|
NM_003172.4(SURF1):c.106+16C>A
|
|
|
NM_003172.4(SURF1):c.106+16C>G
|
|
|
NM_003172.4(SURF1):c.106+16C>T
|
|
|
NM_003172.4(SURF1):c.106+18G>C
|
|
|
NM_003172.4(SURF1):c.106+19G>A
|
|
|
NM_003172.4(SURF1):c.106+1G>C
|
rs863224926
|
|
NM_003172.4(SURF1):c.106+6G>A
|
|
|
NM_003172.4(SURF1):c.106+7G>A
|
|
|
NM_003172.4(SURF1):c.106+7G>T
|
rs1836579608
|
|
NM_003172.4(SURF1):c.106+7del
|
|
|
NM_003172.4(SURF1):c.107-15T>C
|
|
|
NM_003172.4(SURF1):c.107-17G>A
|
|
|
NM_003172.4(SURF1):c.107-17G>T
|
|
|
NM_003172.4(SURF1):c.107-4C>G
|
|
|
NM_003172.4(SURF1):c.107-5T>C
|
|
|
NM_003172.4(SURF1):c.107-7T>G
|
|
|
NM_003172.4(SURF1):c.107-8C>T
|
|
|
NM_003172.4(SURF1):c.108G>C (p.Gly36=)
|
|
|
NM_003172.4(SURF1):c.11_27dup (p.Gly10fs)
|
rs1588693841
|
|
NM_003172.4(SURF1):c.126C>T (p.Ser42=)
|
|
|
NM_003172.4(SURF1):c.129A>G (p.Arg43=)
|
|
|
NM_003172.4(SURF1):c.159_199dup (p.Leu67fs)
|
|
|
NM_003172.4(SURF1):c.161C>G (p.Thr54Arg)
|
rs781958165
|
|
NM_003172.4(SURF1):c.163A>G (p.Lys55Glu)
|
rs2119085332
|
|
NM_003172.4(SURF1):c.168G>A (p.Ala56=)
|
|
|
NM_003172.4(SURF1):c.16G>T (p.Ala6Ser)
|
rs2119089250
|
|
NM_003172.4(SURF1):c.171A>G (p.Glu57=)
|
|
|
NM_003172.4(SURF1):c.179C>G (p.Ser60Cys)
|
|
|
NM_003172.4(SURF1):c.180C>T (p.Ser60=)
|
|
|
NM_003172.4(SURF1):c.183_186del (p.Leu62fs)
|
rs1433471292
|
|
NM_003172.4(SURF1):c.189G>A (p.Gln63=)
|
|
|
NM_003172.4(SURF1):c.18G>A (p.Ala6=)
|
|
|
NM_003172.4(SURF1):c.18G>T (p.Ala6=)
|
rs1256975566
|
|
NM_003172.4(SURF1):c.190T>C (p.Trp64Arg)
|
|
|
NM_003172.4(SURF1):c.195C>T (p.Val65=)
|
|
|
NM_003172.4(SURF1):c.19_35del (p.Leu7fs)
|
rs1836590086
|
|
NM_003172.4(SURF1):c.19_35dup (p.Ala13fs)
|
|
|
NM_003172.4(SURF1):c.1A>G (p.Met1Val)
|
|
|
NM_003172.4(SURF1):c.1A>T (p.Met1Leu)
|
|
|
NM_003172.4(SURF1):c.1_9dup (p.Met1_Ala3dup)
|
rs1477692276
|
|
NM_003172.4(SURF1):c.200T>C (p.Leu67Pro)
|
|
|
NM_003172.4(SURF1):c.201C>T (p.Leu67=)
|
|
|
NM_003172.4(SURF1):c.202C>T (p.Leu68Phe)
|
|
|
NM_003172.4(SURF1):c.204C>G (p.Leu68=)
|
|
|
NM_003172.4(SURF1):c.204C>T (p.Leu68=)
|
|
|
NM_003172.4(SURF1):c.208C>T (p.Pro70Ser)
|
|
|
NM_003172.4(SURF1):c.211G>T (p.Val71Leu)
|
rs147993882
|
|
NM_003172.4(SURF1):c.212T>C (p.Val71Ala)
|
|
|
NM_003172.4(SURF1):c.219C>G (p.Ala73=)
|
|
|
NM_003172.4(SURF1):c.226T>C (p.Leu76=)
|
rs782036327
|
|
NM_003172.4(SURF1):c.226T>G (p.Leu76Val)
|
|
|
NM_003172.4(SURF1):c.22C>T (p.Gln8Ter)
|
rs1836590782
|
|
NM_003172.4(SURF1):c.233C>T (p.Thr78Ile)
|
|
|
NM_003172.4(SURF1):c.234A>G (p.Thr78=)
|
|
|
NM_003172.4(SURF1):c.236G>A (p.Trp79Ter)
|
rs1244071473
|
|
NM_003172.4(SURF1):c.240+11G>C
|
|
|
NM_003172.4(SURF1):c.240+15C>T
|
|
|
NM_003172.4(SURF1):c.240+15_240+21del
|
rs782039658
|
|
NM_003172.4(SURF1):c.240+17G>A
|
|
|
NM_003172.4(SURF1):c.240+1G>A
|
|
|
NM_003172.4(SURF1):c.240+6G>A
|
rs587676139
|
|
NM_003172.4(SURF1):c.240+9C>A
|
|
|
NM_003172.4(SURF1):c.241-11T>C
|
|
|
NM_003172.4(SURF1):c.241-12C>G
|
|
|
NM_003172.4(SURF1):c.241-14C>T
|
|
|
NM_003172.4(SURF1):c.241-15G>C
|
|
|
NM_003172.4(SURF1):c.241-15G>T
|
rs1247921829
|
|
NM_003172.4(SURF1):c.241-16T>A
|
rs146939127
|
|
NM_003172.4(SURF1):c.241-16T>C
|
|
|
NM_003172.4(SURF1):c.241-7A>G
|
rs997493975
|
|
NM_003172.4(SURF1):c.245A>T (p.Gln82Leu)
|
|
|
NM_003172.4(SURF1):c.247C>T (p.Arg83Cys)
|
|
|
NM_003172.4(SURF1):c.24G>A (p.Gln8=)
|
|
|
NM_003172.4(SURF1):c.251G>C (p.Arg84Pro)
|
rs782044026
|
|
NM_003172.4(SURF1):c.252G>T (p.Arg84=)
|
|
|
NM_003172.4(SURF1):c.260A>G (p.Lys87Arg)
|
|
|
NM_003172.4(SURF1):c.262C>T (p.Leu88=)
|
|
|
NM_003172.4(SURF1):c.266_271del (p.Asn89_Leu90del)
|
rs2119085074
|
|
NM_003172.4(SURF1):c.267C>T (p.Asn89=)
|
|
|
NM_003172.4(SURF1):c.273del (p.Ile91fs)
|
rs2119085056
|
|
NM_003172.4(SURF1):c.276A>C (p.Ala92=)
|
|
|
NM_003172.4(SURF1):c.276A>G (p.Ala92=)
|
|
|
NM_003172.4(SURF1):c.27G>A (p.Leu9=)
|
|
|
NM_003172.4(SURF1):c.27G>C (p.Leu9=)
|
|
|
NM_003172.4(SURF1):c.281dup (p.Leu94fs)
|
rs1588691786
|
|
NM_003172.4(SURF1):c.282G>A (p.Leu94=)
|
|
|
NM_003172.4(SURF1):c.283del (p.Glu95fs)
|
rs2119085025
|
|
NM_003172.4(SURF1):c.28G>A (p.Gly10Arg)
|
|
|
NM_003172.4(SURF1):c.295C>G (p.Leu99Val)
|
|
|
NM_003172.4(SURF1):c.297G>C (p.Leu99=)
|
|
|
NM_003172.4(SURF1):c.303G>A (p.Glu101=)
|
rs1554768670
|
|
NM_003172.4(SURF1):c.304C>G (p.Pro102Ala)
|
|
|
NM_003172.4(SURF1):c.306T>G (p.Pro102=)
|
|
|
NM_003172.4(SURF1):c.309C>A (p.Val103=)
|
|
|
NM_003172.4(SURF1):c.30G>A (p.Gly10=)
|
|
|
NM_003172.4(SURF1):c.30G>T (p.Gly10=)
|
|
|
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)
|
rs863224228
|
|
NM_003172.4(SURF1):c.321C>A (p.Ala107=)
|
|
|
NM_003172.4(SURF1):c.321C>G (p.Ala107=)
|
|
|
NM_003172.4(SURF1):c.323+11G>A
|
|
|
NM_003172.4(SURF1):c.323+11G>T
|
|
|
NM_003172.4(SURF1):c.323+12G>C
|
|
|
NM_003172.4(SURF1):c.323+14T>G
|
|
|
NM_003172.4(SURF1):c.323+18C>T
|
|
|
NM_003172.4(SURF1):c.323+19C>G
|
rs368538379
|
|
NM_003172.4(SURF1):c.323+19C>T
|
|
|
NM_003172.4(SURF1):c.323+20C>A
|
rs376340323
|
|
NM_003172.4(SURF1):c.323+20C>G
|
rs376340323
|
|
NM_003172.4(SURF1):c.323+20C>T
|
|
|
NM_003172.4(SURF1):c.323+7G>A
|
|
|
NM_003172.4(SURF1):c.323+7G>C
|
|
|
NM_003172.4(SURF1):c.323+9A>C
|
|
|
NM_003172.4(SURF1):c.324-10_324-9insAGA
|
rs1299986010
|
|
NM_003172.4(SURF1):c.324-11T>G
|
rs375398247
|
|
NM_003172.4(SURF1):c.324-15C>T
|
|
|
NM_003172.4(SURF1):c.324-19T>C
|
rs369080027
|
|
NM_003172.4(SURF1):c.324-19T>G
|
rs369080027
|
|
NM_003172.4(SURF1):c.324-3C>G
|
rs2119083618
|
|
NM_003172.4(SURF1):c.324-6A>G
|
|
|
NM_003172.4(SURF1):c.329T>C (p.Met110Thr)
|
rs1189141759
|
|
NM_003172.4(SURF1):c.32T>C (p.Leu11Pro)
|
rs1773521003
|
|
NM_003172.4(SURF1):c.32T>G (p.Leu11Arg)
|
rs1773521003
|
|
NM_003172.4(SURF1):c.32_38dup (p.Leu16fs)
|
rs1410388157
|
|
NM_003172.4(SURF1):c.334C>T (p.Leu112=)
|
|
|
NM_003172.4(SURF1):c.338A>G (p.Lys113Arg)
|
rs2119083584
|
|
NM_003172.4(SURF1):c.343C>T (p.Leu115=)
|
rs1255547783
|
|
NM_003172.4(SURF1):c.347A>G (p.Glu116Gly)
|
rs1018457058
|
|
NM_003172.4(SURF1):c.348G>A (p.Glu116=)
|
|
|
NM_003172.4(SURF1):c.34C>A (p.Arg12=)
|
|
|
NM_003172.4(SURF1):c.352A>G (p.Arg118Gly)
|
|
|
NM_003172.4(SURF1):c.357A>G (p.Pro119=)
|
|
|
NM_003172.4(SURF1):c.35G>T (p.Arg12Leu)
|
|
|
NM_003172.4(SURF1):c.360G>A (p.Val120=)
|
|
|
NM_003172.4(SURF1):c.361A>T (p.Lys121Ter)
|
|
|
NM_003172.4(SURF1):c.363G>C (p.Lys121Asn)
|
|
|
NM_003172.4(SURF1):c.367_368del (p.Arg123fs)
|
rs2119083553
|
|
NM_003172.4(SURF1):c.369G>C (p.Arg123Ser)
|
|
|
NM_003172.4(SURF1):c.371G>A (p.Gly124Glu)
|
rs28933402
|
|
NM_003172.4(SURF1):c.372G>A (p.Gly124=)
|
|
|
NM_003172.4(SURF1):c.372G>T (p.Gly124=)
|
|
|
NM_003172.4(SURF1):c.380A>C (p.Asp127Ala)
|
rs782197597
|
|
NM_003172.4(SURF1):c.384T>C (p.His128=)
|
|
|
NM_003172.4(SURF1):c.387C>A (p.Ser129=)
|
|
|
NM_003172.4(SURF1):c.38_44del (p.Ala13fs)
|
|
|
NM_003172.4(SURF1):c.398A>G (p.Tyr133Cys)
|
|
|
NM_003172.4(SURF1):c.3G>A (p.Met1Ile)
|
|
|
NM_003172.4(SURF1):c.400A>T (p.Met134Leu)
|
rs2119083514
|
|
NM_003172.4(SURF1):c.406C>T (p.Pro136Ser)
|
|
|
NM_003172.4(SURF1):c.407C>T (p.Pro136Leu)
|
|
|
NM_003172.4(SURF1):c.410G>A (p.Arg137Gln)
|
|
|
NM_003172.4(SURF1):c.416T>C (p.Met139Thr)
|
|
|
NM_003172.4(SURF1):c.426T>C (p.Pro142=)
|
|
|
NM_003172.4(SURF1):c.42G>A (p.Ala14=)
|
|
|
NM_003172.4(SURF1):c.430C>T (p.Arg144Trp)
|
|
|
NM_003172.4(SURF1):c.431G>A (p.Arg144Gln)
|
|
|
NM_003172.4(SURF1):c.432G>A (p.Arg144=)
|
|
|
NM_003172.4(SURF1):c.435G>A (p.Glu145=)
|
|
|
NM_003172.4(SURF1):c.437_445del (p.Ala146_Glu148del)
|
rs782387264
|
|
NM_003172.4(SURF1):c.440G>A (p.Arg147Gln)
|
|
|
NM_003172.4(SURF1):c.441G>A (p.Arg147=)
|
|
|
NM_003172.4(SURF1):c.442G>A (p.Glu148Lys)
|
|
|
NM_003172.4(SURF1):c.444G>A (p.Glu148=)
|
|
|
NM_003172.4(SURF1):c.453C>T (p.Leu151=)
|
|
|
NM_003172.4(SURF1):c.456C>A (p.Ile152=)
|
|
|
NM_003172.4(SURF1):c.456CTC[2] (p.Ser155del)
|
rs782208909
|
|
NM_003172.4(SURF1):c.459C>A (p.Ser153=)
|
|
|
NM_003172.4(SURF1):c.45G>C (p.Gly15=)
|
|
|
NM_003172.4(SURF1):c.45G>T (p.Gly15=)
|
|
|
NM_003172.4(SURF1):c.464C>T (p.Ser155Leu)
|
|
|
NM_003172.4(SURF1):c.465_466del (p.Thr156fs)
|
rs1564349176
|
|
NM_003172.4(SURF1):c.468T>C (p.Thr156=)
|
|
|
NM_003172.4(SURF1):c.470dup (p.Ser158fs)
|
|
|
NM_003172.4(SURF1):c.480C>T (p.Ala160=)
|
|
|
NM_003172.4(SURF1):c.482A>G (p.Tyr161Cys)
|
|
|
NM_003172.4(SURF1):c.485_486del (p.Val162fs)
|
rs2119083367
|
|
NM_003172.4(SURF1):c.486G>C (p.Val162=)
|
|
|
NM_003172.4(SURF1):c.487G>A (p.Val163Ile)
|
|
|
NM_003172.4(SURF1):c.489C>G (p.Val163=)
|
|
|
NM_003172.4(SURF1):c.489C>T (p.Val163=)
|
|
|
NM_003172.4(SURF1):c.491C>G (p.Thr164Ser)
|
|
|
NM_003172.4(SURF1):c.492T>A (p.Thr164=)
|
|
|
NM_003172.4(SURF1):c.495C>T (p.Pro165=)
|
|
|
NM_003172.4(SURF1):c.500A>G (p.His167Arg)
|
rs373251271
|
|
NM_003172.4(SURF1):c.501C>T (p.His167=)
|
|
|
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter)
|
rs1564349087
|
|
NM_003172.4(SURF1):c.510C>A (p.Asp170Glu)
|
|
|
NM_003172.4(SURF1):c.510C>G (p.Asp170Glu)
|
rs587683200
|
|
NM_003172.4(SURF1):c.510C>T (p.Asp170=)
|
|
|
NM_003172.4(SURF1):c.511C>T (p.Leu171=)
|
|
|
NM_003172.4(SURF1):c.512T>C (p.Leu171Pro)
|
rs1836495532
|
|
NM_003172.4(SURF1):c.515+12A>C
|
|
|
NM_003172.4(SURF1):c.515+12A>G
|
|
|
NM_003172.4(SURF1):c.515+12_515+13del
|
|
|
NM_003172.4(SURF1):c.515+13T>C
|
rs782781013
|
|
NM_003172.4(SURF1):c.515+14G>A
|
|
|
NM_003172.4(SURF1):c.515+15T>A
|
|
|
NM_003172.4(SURF1):c.515+15_515+17del
|
|
|
NM_003172.4(SURF1):c.515+17G>A
|
|
|
NM_003172.4(SURF1):c.515+1del
|
|
|
NM_003172.4(SURF1):c.516-11C>G
|
rs782375599
|
|
NM_003172.4(SURF1):c.516-11C>T
|
rs782375599
|
|
NM_003172.4(SURF1):c.516-12del
|
rs781784237
|
|
NM_003172.4(SURF1):c.516-20T>C
|
|
|
NM_003172.4(SURF1):c.516-6C>T
|
|
|
NM_003172.4(SURF1):c.525C>T (p.Ile175=)
|
rs966755440
|
|
NM_003172.4(SURF1):c.527del (p.Leu176fs)
|
|
|
NM_003172.4(SURF1):c.531A>G (p.Val177=)
|
|
|
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr)
|
rs587753385
|
|
NM_003172.4(SURF1):c.532_535del (p.Asn178fs)
|
rs1057517942
|
|
NM_003172.4(SURF1):c.533dup (p.Asn178fs)
|
|
|
NM_003172.4(SURF1):c.534_535del (p.Asn178fs)
|
rs1242159511
|
|
NM_003172.4(SURF1):c.535dup (p.Arg179fs)
|
|
|
NM_003172.4(SURF1):c.538G>C (p.Gly180Arg)
|
rs1444801979
|
|
NM_003172.4(SURF1):c.542T>A (p.Phe181Tyr)
|
rs2119081467
|
|
NM_003172.4(SURF1):c.542T>G (p.Phe181Cys)
|
|
|
NM_003172.4(SURF1):c.547C>T (p.Pro183Ser)
|
rs782765995
|
|
NM_003172.4(SURF1):c.549_566del (p.Arg184_Pro189del)
|
rs1836463353
|
|
NM_003172.4(SURF1):c.552G>A (p.Arg184=)
|
|
|
NM_003172.4(SURF1):c.552del (p.Lys185fs)
|
rs782542152
|
|
NM_003172.4(SURF1):c.555_556del (p.Lys186fs)
|
rs1363125797
|
|
NM_003172.4(SURF1):c.573C>T (p.Thr191=)
|
|
|
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)
|
rs782289759
|
|
NM_003172.4(SURF1):c.576G>A (p.Arg192=)
|
|
|
NM_003172.4(SURF1):c.577C>T (p.Gln193Ter)
|
rs782420522
|
|
NM_003172.4(SURF1):c.579_580del (p.Lys194fs)
|
|
|
NM_003172.4(SURF1):c.579del (p.Gly195fs)
|
|
|
NM_003172.4(SURF1):c.581_582del (p.Lys194fs)
|
|
|
NM_003172.4(SURF1):c.582A>G (p.Lys194=)
|
rs2119081390
|
|
NM_003172.4(SURF1):c.585C>T (p.Gly195=)
|
|
|
NM_003172.4(SURF1):c.588+10A>G
|
|
|
NM_003172.4(SURF1):c.588+11T>A
|
|
|
NM_003172.4(SURF1):c.588+11T>C
|
rs1340125652
|
|
NM_003172.4(SURF1):c.588+12G>A
|
|
|
NM_003172.4(SURF1):c.588+15C>G
|
|
|
NM_003172.4(SURF1):c.588+15C>T
|
|
|
NM_003172.4(SURF1):c.588+16T>C
|
|
|
NM_003172.4(SURF1):c.588+17C>T
|
|
|
NM_003172.4(SURF1):c.588+19T>C
|
|
|
NM_003172.4(SURF1):c.588+1G>A
|
rs1219762677
|
|
NM_003172.4(SURF1):c.588+1G>C
|
|
|
NM_003172.4(SURF1):c.588+8A>T
|
|
|
NM_003172.4(SURF1):c.588+9C>T
|
|
|
NM_003172.4(SURF1):c.588G>A (p.Gln196=)
|
|
|
NM_003172.4(SURF1):c.589-10T>G
|
|
|
NM_003172.4(SURF1):c.589-12C>T
|
|
|
NM_003172.4(SURF1):c.589-14A>G
|
|
|
NM_003172.4(SURF1):c.589-17C>T
|
|
|
NM_003172.4(SURF1):c.589-18A>C
|
|
|
NM_003172.4(SURF1):c.589-19C>G
|
|
|
NM_003172.4(SURF1):c.589-1G>C
|
|
|
NM_003172.4(SURF1):c.589-20T>C
|
|
|
NM_003172.4(SURF1):c.589-4A>G
|
rs2119081254
|
|
NM_003172.4(SURF1):c.589-5T>C
|
|
|
NM_003172.4(SURF1):c.589-7T>C
|
|
|
NM_003172.4(SURF1):c.589-8C>T
|
|
|
NM_003172.4(SURF1):c.589-9C>T
|
|
|
NM_003172.4(SURF1):c.595_598del (p.Gly199fs)
|
rs2119081217
|
|
NM_003172.4(SURF1):c.596G>A (p.Gly199Glu)
|
rs1836456450
|
|
NM_003172.4(SURF1):c.598G>C (p.Glu200Gln)
|
|
|
NM_003172.4(SURF1):c.606C>T (p.Asp202=)
|
|
|
NM_003172.4(SURF1):c.606_610dup (p.Ile204fs)
|
|
|
NM_003172.4(SURF1):c.607C>T (p.Leu203Phe)
|
|
|
NM_003172.4(SURF1):c.609C>T (p.Leu203=)
|
|
|
NM_003172.4(SURF1):c.611T>G (p.Ile204Ser)
|
rs1209784974
|
|
NM_003172.4(SURF1):c.621G>A (p.Val207=)
|
|
|
NM_003172.4(SURF1):c.627G>A (p.Leu209=)
|
|
|
NM_003172.4(SURF1):c.630A>G (p.Thr210=)
|
|
|
NM_003172.4(SURF1):c.631_632del (p.Glu211fs)
|
rs1554768333
|
|
NM_003172.4(SURF1):c.632_642del (p.Glu211fs)
|
rs781954439
|
|
NM_003172.4(SURF1):c.636C>T (p.Thr212=)
|
rs1293829440
|
|
NM_003172.4(SURF1):c.638G>C (p.Arg213Thr)
|
|
|
NM_003172.4(SURF1):c.639G>A (p.Arg213=)
|
|
|
NM_003172.4(SURF1):c.640C>T (p.Gln214Ter)
|
|
|
NM_003172.4(SURF1):c.641_643del (p.Gln214del)
|
rs2119081112
|
|
NM_003172.4(SURF1):c.643C>T (p.Pro215Ser)
|
|
|
NM_003172.4(SURF1):c.648T>C (p.Phe216=)
|
|
|
NM_003172.4(SURF1):c.654T>C (p.Pro218=)
|
|
|
NM_003172.4(SURF1):c.655G>C (p.Glu219Gln)
|
|
|
NM_003172.4(SURF1):c.657G>C (p.Glu219Asp)
|
|
|
NM_003172.4(SURF1):c.661A>G (p.Asn221Asp)
|
|
|
NM_003172.4(SURF1):c.665C>G (p.Pro222Arg)
|
|
|
NM_003172.4(SURF1):c.668A>G (p.Glu223Gly)
|
|
|
NM_003172.4(SURF1):c.678C>T (p.His226=)
|
rs2119081052
|
|
NM_003172.4(SURF1):c.679T>A (p.Trp227Arg)
|
rs398122806
|
|
NM_003172.4(SURF1):c.681G>A (p.Trp227Ter)
|
rs1057520688
|
|
NM_003172.4(SURF1):c.692A>G (p.Asp231Gly)
|
|
|
NM_003172.4(SURF1):c.693C>G (p.Asp231Glu)
|
|
|
NM_003172.4(SURF1):c.694C>T (p.Leu232=)
|
|
|
NM_003172.4(SURF1):c.6G>A (p.Ala2=)
|
rs997217991
|
|
NM_003172.4(SURF1):c.6_22dup (p.Gln8fs)
|
|
|
NM_003172.4(SURF1):c.700G>C (p.Ala234Pro)
|
|
|
NM_003172.4(SURF1):c.703A>C (p.Met235Leu)
|
|
|
NM_003172.4(SURF1):c.703A>G (p.Met235Val)
|
rs782437393
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NM_003172.4(SURF1):c.706G>A (p.Ala236Thr)
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rs781807153
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NM_003172.4(SURF1):c.707C>T (p.Ala236Val)
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NM_003172.4(SURF1):c.708C>T (p.Ala236=)
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NM_003172.4(SURF1):c.713T>C (p.Ile238Thr)
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rs1318116962
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NM_003172.4(SURF1):c.723A>G (p.Ala241=)
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NM_003172.4(SURF1):c.727C>A (p.Pro243Thr)
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NM_003172.4(SURF1):c.732C>T (p.Ile244=)
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NM_003172.4(SURF1):c.738T>C (p.Ile246=)
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NM_003172.4(SURF1):c.741T>C (p.Asp247=)
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NM_003172.4(SURF1):c.747C>A (p.Asn249Lys)
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rs1208965322
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NM_003172.4(SURF1):c.747C>T (p.Asn249=)
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NM_003172.4(SURF1):c.750C>G (p.Phe250Leu)
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rs782109120
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NM_003172.4(SURF1):c.751+10G>A
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NM_003172.4(SURF1):c.751+12A>G
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NM_003172.4(SURF1):c.751+13C>T
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NM_003172.4(SURF1):c.751+15A>G
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NM_003172.4(SURF1):c.751+16G>T
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NM_003172.4(SURF1):c.751+1G>A
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NM_003172.4(SURF1):c.751+7T>C
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NM_003172.4(SURF1):c.752-10G>C
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rs782262936
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NM_003172.4(SURF1):c.752-11T>C
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NM_003172.4(SURF1):c.752-14T>C
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NM_003172.4(SURF1):c.752-14T>G
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rs781967602
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NM_003172.4(SURF1):c.752-15_752-14del
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rs2119080171
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NM_003172.4(SURF1):c.752-17G>C
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NM_003172.4(SURF1):c.752-18A>G
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NM_003172.4(SURF1):c.752-20dup
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NM_003172.4(SURF1):c.752-3C>G
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NM_003172.4(SURF1):c.752-8C>T
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NM_003172.4(SURF1):c.753G>A (p.Gln251=)
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NM_003172.4(SURF1):c.754_755del
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rs782007828
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NM_003172.4(SURF1):c.758C>G (p.Thr253Arg)
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NM_003172.4(SURF1):c.758_759del (p.Thr253fs)
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rs782349178
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NM_003172.4(SURF1):c.759A>G (p.Thr253=)
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NM_003172.4(SURF1):c.759dup (p.Val254fs)
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rs1554768246
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NM_003172.4(SURF1):c.762C>G (p.Val254=)
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NM_003172.4(SURF1):c.763C>T (p.Pro255Ser)
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NM_003172.4(SURF1):c.764C>A (p.Pro255His)
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NM_003172.4(SURF1):c.764del (p.Pro255fs)
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NM_003172.4(SURF1):c.765T>C (p.Pro255=)
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NM_003172.4(SURF1):c.769G>A (p.Gly257Arg)
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NM_003172.4(SURF1):c.771A>C (p.Gly257=)
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NM_003172.4(SURF1):c.771A>G (p.Gly257=)
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NM_003172.4(SURF1):c.772C>T (p.Pro258Ser)
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rs1053850536
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NM_003172.4(SURF1):c.773C>G (p.Pro258Arg)
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NM_003172.4(SURF1):c.773_774del (p.Pro258fs)
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NM_003172.4(SURF1):c.773_784del (p.Pro258_Gly261del)
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rs1333638410
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NM_003172.4(SURF1):c.775A>G (p.Ile259Val)
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NM_003172.4(SURF1):c.776T>C (p.Ile259Thr)
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NM_003172.4(SURF1):c.786A>G (p.Gln262=)
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NM_003172.4(SURF1):c.788C>G (p.Thr263Ser)
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rs2119080085
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NM_003172.4(SURF1):c.789C>G (p.Thr263=)
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NM_003172.4(SURF1):c.792_793del (p.Arg264fs)
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rs782490558
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NM_003172.4(SURF1):c.794_795dup (p.Thr266fs)
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rs1588688823
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NM_003172.4(SURF1):c.795T>C (p.Val265=)
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NM_003172.4(SURF1):c.795_804dup (p.Asn269fs)
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NM_003172.4(SURF1):c.796A>T (p.Thr266Ser)
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NM_003172.4(SURF1):c.798T>C (p.Thr266=)
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NM_003172.4(SURF1):c.799C>T (p.Leu267=)
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NM_003172.4(SURF1):c.799_800del (p.Leu267fs)
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rs864309500
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NM_003172.4(SURF1):c.800T>C (p.Leu267Pro)
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NM_003172.4(SURF1):c.804del (p.Asn269fs)
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NM_003172.4(SURF1):c.808G>T (p.Glu270Ter)
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NM_003172.4(SURF1):c.808_812del (p.Glu270fs)
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rs1836430953
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NM_003172.4(SURF1):c.808_814dup (p.Leu272fs)
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rs1554768224
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NM_003172.4(SURF1):c.808_817dup (p.Gln273fs)
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NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup)
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rs782161777
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NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup)
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rs782488388
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NM_003172.4(SURF1):c.814C>T (p.Leu272=)
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NM_003172.4(SURF1):c.815T>C (p.Leu272Pro)
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NM_003172.4(SURF1):c.815_825dup (p.Val276fs)
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rs1220688120
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NM_003172.4(SURF1):c.816G>A (p.Leu272=)
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NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)
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NM_003172.4(SURF1):c.820_824dup (p.Val276fs)
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NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys)
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NM_003172.4(SURF1):c.822C>T (p.Tyr274=)
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NM_003172.4(SURF1):c.823A>C (p.Ile275Leu)
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rs1050473947
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NM_003172.4(SURF1):c.823A>G (p.Ile275Val)
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NM_003172.4(SURF1):c.823A>T (p.Ile275Phe)
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rs1050473947
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NM_003172.4(SURF1):c.827T>C (p.Val276Ala)
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NM_003172.4(SURF1):c.828G>A (p.Val276=)
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NM_003172.4(SURF1):c.831C>A (p.Thr277=)
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NM_003172.4(SURF1):c.831C>G (p.Thr277=)
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NM_003172.4(SURF1):c.831C>T (p.Thr277=)
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NM_003172.4(SURF1):c.833+10del
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NM_003172.4(SURF1):c.833+11A>T
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NM_003172.4(SURF1):c.833+12G>T
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NM_003172.4(SURF1):c.833+15G>C
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NM_003172.4(SURF1):c.833+16C>T
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NM_003172.4(SURF1):c.833+17C>T
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NM_003172.4(SURF1):c.833+18C>G
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NM_003172.4(SURF1):c.833+19T>C
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NM_003172.4(SURF1):c.833+19T>G
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NM_003172.4(SURF1):c.833+1G>A
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rs782609482
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NM_003172.4(SURF1):c.833+1G>C
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rs782609482
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NM_003172.4(SURF1):c.833+1_833+2insACCTGGGGAC
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rs2119079909
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NM_003172.4(SURF1):c.833+3G>A
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rs587699821
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NM_003172.4(SURF1):c.833+7C>T
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NM_003172.4(SURF1):c.834-11T>C
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NM_003172.4(SURF1):c.834-11T>G
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NM_003172.4(SURF1):c.834-13_834-9dup
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NM_003172.4(SURF1):c.834-14C>G
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NM_003172.4(SURF1):c.834-15G>C
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NM_003172.4(SURF1):c.834-17T>C
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NM_003172.4(SURF1):c.834-4dup
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NM_003172.4(SURF1):c.834-6C>T
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NM_003172.4(SURF1):c.836A>T (p.Tyr279Phe)
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rs587758543
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NM_003172.4(SURF1):c.838_839dup (p.Leu281fs)
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NM_003172.4(SURF1):c.845C>G (p.Ser282Cys)
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NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
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rs782316919
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NM_003172.4(SURF1):c.846T>C (p.Ser282=)
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NM_003172.4(SURF1):c.847G>A (p.Ala283Thr)
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rs139025632
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NM_003172.4(SURF1):c.849A>T (p.Ala283=)
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NM_003172.4(SURF1):c.850G>C (p.Ala284Pro)
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NM_003172.4(SURF1):c.855A>G (p.Thr285=)
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rs956430151
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NM_003172.4(SURF1):c.856T>G (p.Ser286Ala)
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rs2119079774
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NM_003172.4(SURF1):c.858C>T (p.Ser286=)
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NM_003172.4(SURF1):c.861C>T (p.Tyr287=)
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NM_003172.4(SURF1):c.862C>T (p.Leu288=)
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NM_003172.4(SURF1):c.863T>A (p.Leu288Gln)
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rs200841752
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NM_003172.4(SURF1):c.864G>A (p.Leu288=)
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NM_003172.4(SURF1):c.864G>T (p.Leu288=)
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NM_003172.4(SURF1):c.867G>A (p.Trp289Ter)
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rs2119079745
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NM_003172.4(SURF1):c.870del (p.Phe290fs)
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NM_003172.4(SURF1):c.870dup (p.Lys291Ter)
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rs782061187
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NM_003172.4(SURF1):c.879C>G (p.Phe293Leu)
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NM_003172.4(SURF1):c.87C>T (p.Leu29=)
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NM_003172.4(SURF1):c.882A>G (p.Leu294=)
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rs2119079701
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NM_003172.4(SURF1):c.882A>T (p.Leu294=)
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NM_003172.4(SURF1):c.884G>A (p.Arg295His)
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NM_003172.4(SURF1):c.884G>T (p.Arg295Leu)
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rs369247238
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NM_003172.4(SURF1):c.891A>C (p.Thr297=)
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NM_003172.4(SURF1):c.891A>G (p.Thr297=)
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NM_003172.4(SURF1):c.898G>A (p.Val300Met)
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rs782746186
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NM_003172.4(SURF1):c.8C>T (p.Ala3Val)
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rs966145163
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NM_003172.4(SURF1):c.903A>G (p.Ter301Trp)
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NM_003172.4(SURF1):c.903A>T (p.Ter301Cys)
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NM_003172.4(SURF1):c.93C>T (p.Val31=)
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rs2119088398
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NM_003172.4(SURF1):c.96C>T (p.Ser32=)
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NM_003172.4(SURF1):c.97C>G (p.Pro33Ala)
|
rs1295640591
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NM_003172.4(SURF1):c.98C>G (p.Pro33Arg)
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NM_003172.4(SURF1):c.9G>A (p.Ala3=)
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NM_003172.4(SURF1):c.9G>T (p.Ala3=)
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