ClinVar Miner

List of variants in gene SURF1 studied for Leigh syndrome

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Gene type:
ClinVar version:
Total variants: 557
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HGVS dbSNP gnomAD frequency
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
NM_003172.4(SURF1):c.706G>A (p.Ala236Thr) rs781807153
NM_003172.4(SURF1):c.707C>T (p.Ala236Val)
NM_003172.4(SURF1):c.708C>T (p.Ala236=)
NM_003172.4(SURF1):c.713T>C (p.Ile238Thr) rs1318116962
NM_003172.4(SURF1):c.723A>G (p.Ala241=)
NM_003172.4(SURF1):c.727C>A (p.Pro243Thr)
NM_003172.4(SURF1):c.732C>T (p.Ile244=)
NM_003172.4(SURF1):c.738T>C (p.Ile246=)
NM_003172.4(SURF1):c.741T>C (p.Asp247=)
NM_003172.4(SURF1):c.747C>A (p.Asn249Lys) rs1208965322
NM_003172.4(SURF1):c.747C>T (p.Asn249=)
NM_003172.4(SURF1):c.750C>G (p.Phe250Leu) rs782109120
NM_003172.4(SURF1):c.751+10G>A
NM_003172.4(SURF1):c.751+12A>G
NM_003172.4(SURF1):c.751+13C>T
NM_003172.4(SURF1):c.751+15A>G
NM_003172.4(SURF1):c.751+16G>T
NM_003172.4(SURF1):c.751+1G>A
NM_003172.4(SURF1):c.751+7T>C
NM_003172.4(SURF1):c.752-10G>C rs782262936
NM_003172.4(SURF1):c.752-11T>C
NM_003172.4(SURF1):c.752-14T>C
NM_003172.4(SURF1):c.752-14T>G rs781967602
NM_003172.4(SURF1):c.752-15_752-14del rs2119080171
NM_003172.4(SURF1):c.752-17G>C
NM_003172.4(SURF1):c.752-18A>G
NM_003172.4(SURF1):c.752-20dup
NM_003172.4(SURF1):c.752-3C>G
NM_003172.4(SURF1):c.752-8C>T
NM_003172.4(SURF1):c.753G>A (p.Gln251=)
NM_003172.4(SURF1):c.754_755del rs782007828
NM_003172.4(SURF1):c.758C>G (p.Thr253Arg)
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.759A>G (p.Thr253=)
NM_003172.4(SURF1):c.759dup (p.Val254fs) rs1554768246
NM_003172.4(SURF1):c.762C>G (p.Val254=)
NM_003172.4(SURF1):c.763C>T (p.Pro255Ser)
NM_003172.4(SURF1):c.764C>A (p.Pro255His)
NM_003172.4(SURF1):c.764del (p.Pro255fs)
NM_003172.4(SURF1):c.765T>C (p.Pro255=)
NM_003172.4(SURF1):c.769G>A (p.Gly257Arg)
NM_003172.4(SURF1):c.771A>C (p.Gly257=)
NM_003172.4(SURF1):c.771A>G (p.Gly257=)
NM_003172.4(SURF1):c.772C>T (p.Pro258Ser) rs1053850536
NM_003172.4(SURF1):c.773C>G (p.Pro258Arg)
NM_003172.4(SURF1):c.773_774del (p.Pro258fs)
NM_003172.4(SURF1):c.773_784del (p.Pro258_Gly261del) rs1333638410
NM_003172.4(SURF1):c.775A>G (p.Ile259Val)
NM_003172.4(SURF1):c.776T>C (p.Ile259Thr)
NM_003172.4(SURF1):c.786A>G (p.Gln262=)
NM_003172.4(SURF1):c.788C>G (p.Thr263Ser) rs2119080085
NM_003172.4(SURF1):c.789C>G (p.Thr263=)
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs) rs1588688823
NM_003172.4(SURF1):c.795T>C (p.Val265=)
NM_003172.4(SURF1):c.795_804dup (p.Asn269fs)
NM_003172.4(SURF1):c.796A>T (p.Thr266Ser)
NM_003172.4(SURF1):c.798T>C (p.Thr266=)
NM_003172.4(SURF1):c.799C>T (p.Leu267=)
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.800T>C (p.Leu267Pro)
NM_003172.4(SURF1):c.804del (p.Asn269fs)
NM_003172.4(SURF1):c.808G>T (p.Glu270Ter)
NM_003172.4(SURF1):c.808_812del (p.Glu270fs) rs1836430953
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_003172.4(SURF1):c.808_817dup (p.Gln273fs)
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) rs782488388
NM_003172.4(SURF1):c.814C>T (p.Leu272=)
NM_003172.4(SURF1):c.815T>C (p.Leu272Pro)
NM_003172.4(SURF1):c.815_825dup (p.Val276fs) rs1220688120
NM_003172.4(SURF1):c.816G>A (p.Leu272=)
NM_003172.4(SURF1):c.817C>T (p.Gln273Ter)
NM_003172.4(SURF1):c.820_824dup (p.Val276fs)
NM_003172.4(SURF1):c.821A>G (p.Tyr274Cys)
NM_003172.4(SURF1):c.822C>T (p.Tyr274=)
NM_003172.4(SURF1):c.823A>C (p.Ile275Leu) rs1050473947
NM_003172.4(SURF1):c.823A>G (p.Ile275Val)
NM_003172.4(SURF1):c.823A>T (p.Ile275Phe) rs1050473947
NM_003172.4(SURF1):c.827T>C (p.Val276Ala)
NM_003172.4(SURF1):c.828G>A (p.Val276=)
NM_003172.4(SURF1):c.831C>A (p.Thr277=)
NM_003172.4(SURF1):c.831C>G (p.Thr277=)
NM_003172.4(SURF1):c.831C>T (p.Thr277=)
NM_003172.4(SURF1):c.833+10del
NM_003172.4(SURF1):c.833+11A>T
NM_003172.4(SURF1):c.833+12G>T
NM_003172.4(SURF1):c.833+15G>C
NM_003172.4(SURF1):c.833+16C>T
NM_003172.4(SURF1):c.833+17C>T
NM_003172.4(SURF1):c.833+18C>G
NM_003172.4(SURF1):c.833+19T>C
NM_003172.4(SURF1):c.833+19T>G
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003172.4(SURF1):c.833+1G>C rs782609482
NM_003172.4(SURF1):c.833+1_833+2insACCTGGGGAC rs2119079909
NM_003172.4(SURF1):c.833+3G>A rs587699821
NM_003172.4(SURF1):c.833+7C>T
NM_003172.4(SURF1):c.834-11T>C
NM_003172.4(SURF1):c.834-11T>G
NM_003172.4(SURF1):c.834-13_834-9dup
NM_003172.4(SURF1):c.834-14C>G
NM_003172.4(SURF1):c.834-15G>C
NM_003172.4(SURF1):c.834-17T>C
NM_003172.4(SURF1):c.834-4dup
NM_003172.4(SURF1):c.834-6C>T
NM_003172.4(SURF1):c.836A>T (p.Tyr279Phe) rs587758543
NM_003172.4(SURF1):c.838_839dup (p.Leu281fs)
NM_003172.4(SURF1):c.845C>G (p.Ser282Cys)
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.846T>C (p.Ser282=)
NM_003172.4(SURF1):c.847G>A (p.Ala283Thr) rs139025632
NM_003172.4(SURF1):c.849A>T (p.Ala283=)
NM_003172.4(SURF1):c.850G>C (p.Ala284Pro)
NM_003172.4(SURF1):c.855A>G (p.Thr285=) rs956430151
NM_003172.4(SURF1):c.856T>G (p.Ser286Ala) rs2119079774
NM_003172.4(SURF1):c.858C>T (p.Ser286=)
NM_003172.4(SURF1):c.861C>T (p.Tyr287=)
NM_003172.4(SURF1):c.862C>T (p.Leu288=)
NM_003172.4(SURF1):c.863T>A (p.Leu288Gln) rs200841752
NM_003172.4(SURF1):c.864G>A (p.Leu288=)
NM_003172.4(SURF1):c.864G>T (p.Leu288=)
NM_003172.4(SURF1):c.867G>A (p.Trp289Ter) rs2119079745
NM_003172.4(SURF1):c.870del (p.Phe290fs)
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187
NM_003172.4(SURF1):c.879C>G (p.Phe293Leu)
NM_003172.4(SURF1):c.87C>T (p.Leu29=)
NM_003172.4(SURF1):c.882A>G (p.Leu294=) rs2119079701
NM_003172.4(SURF1):c.882A>T (p.Leu294=)
NM_003172.4(SURF1):c.884G>A (p.Arg295His)
NM_003172.4(SURF1):c.884G>T (p.Arg295Leu) rs369247238
NM_003172.4(SURF1):c.891A>C (p.Thr297=)
NM_003172.4(SURF1):c.891A>G (p.Thr297=)
NM_003172.4(SURF1):c.898G>A (p.Val300Met) rs782746186
NM_003172.4(SURF1):c.8C>T (p.Ala3Val) rs966145163
NM_003172.4(SURF1):c.903A>G (p.Ter301Trp)
NM_003172.4(SURF1):c.903A>T (p.Ter301Cys)
NM_003172.4(SURF1):c.93C>T (p.Val31=) rs2119088398
NM_003172.4(SURF1):c.96C>T (p.Ser32=)
NM_003172.4(SURF1):c.97C>G (p.Pro33Ala) rs1295640591
NM_003172.4(SURF1):c.98C>G (p.Pro33Arg)
NM_003172.4(SURF1):c.9G>A (p.Ala3=)
NM_003172.4(SURF1):c.9G>T (p.Ala3=)

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