ClinVar Miner

List of variants reported as uncertain significance for hereditary epidermal appendage anomaly

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12151
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_153717.3(EVC):c.*1112T>C rs28460555 0.20666
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_153717.3(EVC):c.*1123A>G rs112378896 0.01481
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_002855.5(NECTIN1):c.*3440G>A rs113799084 0.01372
NM_002855.5(NECTIN1):c.*2413A>G rs78968779 0.01307
NM_002855.5(NECTIN1):c.*1139G>A rs60405761 0.00920
NM_002855.5(NECTIN1):c.596G>A (p.Arg199Gln) rs78809001 0.00872
NM_002855.5(NECTIN1):c.*1554G>A rs77555237 0.00835
NM_002855.5(NECTIN1):c.*532T>C rs138678304 0.00777
NM_002855.5(NECTIN1):c.264C>T (p.Ser88=) rs7131391 0.00772
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_153717.3(EVC):c.*922G>A rs71599840 0.00749
NM_002855.5(NECTIN1):c.*607C>A rs187441699 0.00715
NM_025099.6(CTC1):c.*825C>T rs3027248 0.00659
NM_002855.5(NECTIN1):c.*1132G>A rs147857166 0.00595
NM_001793.5(CDH3):c.-267C>T rs182969772 0.00570
NM_002855.5(NECTIN1):c.*1337T>C rs114244021 0.00558
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467 0.00486
NM_002855.5(NECTIN1):c.*2416A>G rs370905459 0.00417
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_153717.3(EVC):c.*1136T>C rs71599852 0.00394
NM_002855.5(NECTIN1):c.*3714A>T rs146163519 0.00375
NM_002855.5(NECTIN1):c.*481C>T rs148928883 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_001005337.3(PKP1):c.*221C>T rs547062578 0.00336
NM_002855.5(NECTIN1):c.*2751G>A rs368910346 0.00332
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NM_153717.3(EVC):c.-35C>A rs546318095 0.00314
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_020779.4(WDR35):c.*813A>T rs148210550 0.00290
NM_153717.3(EVC):c.-36G>A rs577263762 0.00288
NM_147127.5(EVC2):c.*90C>T rs115810595 0.00287
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_020639.3(RIPK4):c.*416C>T rs187507566 0.00280
NM_002855.5(NECTIN1):c.*185T>C rs543648905 0.00248
NM_002855.5(NECTIN1):c.*315T>C rs565357962 0.00247
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_002855.5(NECTIN1):c.*84C>T rs559757852 0.00236
NM_153717.3(EVC):c.*1248T>G rs559890176 0.00230
NM_001363.5(DKC1):c.-142C>G rs199422241 0.00229
NM_001099857.5(IKBKG):c.399+19G>C rs386134239 0.00223
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_000165.5(GJA1):c.*214G>A rs549064986 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_002855.5(NECTIN1):c.*2509G>A rs116014183 0.00205
NM_025099.6(CTC1):c.*1176C>T rs149513613 0.00203
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_001099857.5(IKBKG):c.518+7C>T rs386134241 0.00200
NM_020779.4(WDR35):c.*3225G>A rs189820516 0.00198
NM_020779.4(WDR35):c.*3235C>A rs186978842 0.00198
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_020779.4(WDR35):c.*997T>C rs536197643 0.00183
NM_020639.3(RIPK4):c.*1234G>A rs115885677 0.00180
NM_020639.3(RIPK4):c.*73G>A rs188084540 0.00178
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro) rs138190335 0.00175
NM_153717.3(EVC):c.*1243A>G rs111984543 0.00173
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_024589.3(ROGDI):c.822+8C>T rs376868221 0.00168
NM_001793.6(CDH3):c.*87G>C rs555473968 0.00166
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_020779.4(WDR35):c.*1582C>T rs757203175 0.00162
NM_002855.5(NECTIN1):c.*3136G>A rs76084281 0.00161
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_002855.5(NECTIN1):c.*352C>T rs59681945 0.00157
NM_002855.5(NECTIN1):c.635G>A (p.Arg212His) rs142930935 0.00157
NM_025099.6(CTC1):c.*558G>A rs112446369 0.00150
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) rs201597047 0.00150
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) rs145201970 0.00146
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_153717.3(EVC):c.*971C>G rs13121258 0.00145
NM_020779.4(WDR35):c.*2160T>C rs192966128 0.00144
NM_000400.4(ERCC2):c.2191-4G>A rs201840907 0.00143
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_020639.3(RIPK4):c.*637G>A rs572218247 0.00137
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_153717.3(EVC):c.*1288T>C rs1280696850 0.00134
NM_020639.3(RIPK4):c.267C>T (p.Arg89=) rs55798804 0.00131
NM_020639.3(RIPK4):c.*701A>G rs553704130 0.00130
NM_000400.4(ERCC2):c.1119-85G>A rs148028467 0.00129
NM_020639.3(RIPK4):c.832+2T>C rs146341788 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150 0.00125
NM_001793.4(CDH3):c.-646_-645insA rs886052221 0.00124
NM_004278.4(PIGL):c.526+10G>A rs138410893 0.00121
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_001005337.3(PKP1):c.263A>G (p.Tyr88Cys) rs141060367 0.00118
NM_001793.6(CDH3):c.1681G>A (p.Val561Met) rs151198926 0.00118
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_002855.5(NECTIN1):c.*3194C>T rs536746735 0.00112
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr) rs143550996 0.00108
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914 0.00105
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) rs187332731 0.00101
NM_020779.4(WDR35):c.*1006G>A rs80292673 0.00098
NM_020779.4(WDR35):c.*1668A>C rs191316348 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_001143992.2(WRAP53):c.1521C>T (p.His507=) rs146651237 0.00096
NM_024589.3(ROGDI):c.*44C>G rs200440067 0.00096
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_001854.4(COL11A1):c.*628dup rs532806397 0.00093
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_153717.3(EVC):c.*263T>C rs575488876 0.00093
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_002855.5(NECTIN1):c.*736C>T rs561395081 0.00092
NM_001005337.3(PKP1):c.241G>A (p.Gly81Arg) rs147328328 0.00091
NM_020639.3(RIPK4):c.2145C>T (p.His715=) rs61739694 0.00090
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_002855.5(NECTIN1):c.629G>A (p.Arg210His) rs142863092 0.00087
NM_002855.5(NECTIN1):c.*152C>A rs541555437 0.00086
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904 0.00085
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) rs567650961 0.00084
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr) rs114670807 0.00083
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_002855.5(NECTIN1):c.*1595C>A rs368193026 0.00082
NM_002855.5(NECTIN1):c.*3705G>A rs184430239 0.00082
NM_020639.3(RIPK4):c.2008G>A (p.Gly670Ser) rs148192173 0.00081
NM_025099.6(CTC1):c.*3186G>A rs8072826 0.00081
NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser) rs34813787 0.00079
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) rs199765304 0.00079
NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser) rs137991779 0.00077
NM_020529.3(NFKBIA):c.*366G>A rs552418731 0.00077
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala) rs144140226 0.00077
NM_001793.5(CDH3):c.-193G>T rs550203444 0.00076
NM_024589.3(ROGDI):c.783C>T (p.Phe261=) rs142481526 0.00075
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_001793.5(CDH3):c.-72T>C rs557660477 0.00074
NM_020639.3(RIPK4):c.1243G>A (p.Val415Met) rs55645753 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_024589.3(ROGDI):c.243C>T (p.Ala81=) rs148051351 0.00073
NM_024589.3(ROGDI):c.432+13C>T rs371432203 0.00071
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_024589.2(ROGDI):c.-131C>G rs186867384 0.00070
NM_025099.6(CTC1):c.*234C>T rs570408909 0.00070
NM_020639.3(RIPK4):c.*978C>G rs76434022 0.00069
NM_025099.6(CTC1):c.*1156G>A rs538807522 0.00069
NM_001793.4(CDH3):c.-679T>C rs150247850 0.00068
NM_020779.4(WDR35):c.*2620G>A rs545271105 0.00068
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) rs3744824 0.00067
NM_025216.3(WNT10A):c.-123C>A rs928677784 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_002855.5(NECTIN1):c.*1120T>A rs570248260 0.00066
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735 0.00066
NM_020779.4(WDR35):c.*2797G>A rs528776835 0.00066
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_001005337.3(PKP1):c.*1229C>T rs775406062 0.00064
NM_020779.4(WDR35):c.*2619C>T rs565144558 0.00064
NM_025099.6(CTC1):c.*1410A>G rs570429563 0.00064
NM_001793.6(CDH3):c.1785C>T (p.Val595=) rs376302917 0.00063
NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly) rs144549494 0.00062
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn) rs116247954 0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707 0.00062
NM_001793.5(CDH3):c.-141C>G rs537339409 0.00061
NM_001793.6(CDH3):c.909G>T (p.Met303Ile) rs148535251 0.00061
NM_020639.3(RIPK4):c.*1361T>A rs190283912 0.00061
NM_002855.5(NECTIN1):c.*296T>C rs769907939 0.00060
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_002855.5(NECTIN1):c.1548C>T (p.Tyr516=) rs146113849 0.00059
NM_024589.3(ROGDI):c.567G>A (p.Leu189=) rs143000899 0.00059
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322 0.00058
NM_002855.5(NECTIN1):c.423G>A (p.Thr141=) rs142753103 0.00058
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00058
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) rs145438428 0.00056
NM_002855.5(NECTIN1):c.*3545C>G rs569437093 0.00056
NM_001143992.2(WRAP53):c.919C>T (p.Arg307Trp) rs149828392 0.00055
NM_001283009.2(RTEL1):c.3251C>T (p.Thr1084Ile) rs142457144 0.00055
NM_153717.3(EVC):c.*1592C>T rs193184679 0.00055
NM_022336.4(EDAR):c.-238C>T rs529174103 0.00054
NM_024589.2(ROGDI):c.-338C>T rs757790008 0.00054
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00053
NM_001793.6(CDH3):c.1443C>T (p.Asp481=) rs144403828 0.00053
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=) rs143736590 0.00053
NM_025132.4(WDR19):c.3918-6A>C rs199546190 0.00053
NM_198253.3(TERT):c.769G>T (p.Ala257Ser) rs964055372 0.00053
NM_020639.3(RIPK4):c.252G>A (p.Val84=) rs138268998 0.00052
NM_000122.2(ERCC3):c.144G>C (p.Glu48Asp) rs149309991 0.00051
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=) rs142739953 0.00051
NM_002855.5(NECTIN1):c.*3636G>A rs981570094 0.00051
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_025099.6(CTC1):c.*1936A>G rs767476369 0.00051
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_001110219.3(GJB6):c.-295-99A>C rs886050035 0.00050
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His) rs113684274 0.00050
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr) rs140623081 0.00050
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_052989.3(IFT122):c.986C>T (p.Ala329Val) rs200915373 0.00049
NM_153717.3(EVC):c.*709T>C rs183727253 0.00049
NM_025099.6(CTC1):c.*1930A>G rs780992571 0.00048
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_030916.3(NECTIN4):c.1387C>G (p.Pro463Ala) rs142579218 0.00048
NM_198253.3(TERT):c.2130+10G>A rs373879259 0.00048
NM_022336.4(EDAR):c.*625C>A rs781048595 0.00047
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_147127.5(EVC2):c.1505T>G (p.Leu502Arg) rs145909403 0.00046
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_153717.3(EVC):c.*3161A>C rs550678702 0.00046
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) rs140753861 0.00045
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804 0.00045
NM_001082486.2(ACD):c.46C>A (p.Leu16Met) rs200365807 0.00044
NM_153717.3(EVC):c.*1069A>G rs13147953 0.00044
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_001283009.2(RTEL1):c.1189C>G (p.Gln397Glu) rs150285674 0.00043
NM_001283009.2(RTEL1):c.1482-7C>T rs189271525 0.00043
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_016004.5(IFT52):c.157G>A (p.Val53Met) rs137979762 0.00043
NM_025132.4(WDR19):c.*106T>G rs147600266 0.00043
NM_000165.5(GJA1):c.*285A>T rs72548748 0.00042
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001283009.2(RTEL1):c.2652+4C>T rs374540895 0.00042
NM_022336.4(EDAR):c.*1108G>A rs564052014 0.00042
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_001005337.3(PKP1):c.1134C>T (p.Arg378=) rs148096263 0.00041
NM_001793.4(CDH3):c.-634_-633insG rs886052224 0.00041
NM_002855.5(NECTIN1):c.*1555C>T rs1023855669 0.00041
NM_002855.5(NECTIN1):c.565T>C (p.Leu189=) rs140389200 0.00041
NM_020639.3(RIPK4):c.2277C>T (p.Ala759=) rs201802815 0.00041
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_001283009.2(RTEL1):c.612C>T (p.His204=) rs142711955 0.00040
NM_025099.6(CTC1):c.*1130G>C rs375962823 0.00040
NM_025216.3(WNT10A):c.*108G>A rs190527122 0.00040
NM_001793.4(CDH3):c.-635_-634insG rs886052222 0.00039
NM_025132.4(WDR19):c.*152G>A rs533059483 0.00039
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 0.00039
NM_145861.4(EDARADD):c.*1072C>T rs988277282 0.00039
NM_153717.3(EVC):c.*858G>A rs544337142 0.00039
NM_002582.4(PARN):c.466G>T (p.Ala156Ser) rs200103366 0.00038
NM_017838.4(NHP2):c.190G>A (p.Val64Met) rs79031130 0.00038
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_153717.3(EVC):c.*198G>A rs181401771 0.00038
NM_002855.5(NECTIN1):c.375G>A (p.Glu125=) rs146919951 0.00037
NM_018648.4(NOP10):c.55-9C>T rs72720799 0.00037
NM_153447.4(NLRP5):c.2840T>C (p.Leu947Pro) rs202181446 0.00037
NM_153717.3(EVC):c.*1256C>T rs532180814 0.00037
NM_153717.3(EVC):c.*1599C>T rs527297174 0.00037
NM_153717.3(EVC):c.2782+15C>G rs373862588 0.00037
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00037
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235 0.00036
NM_001793.4(CDH3):c.-621G>A rs886052225 0.00036
NM_002855.5(NECTIN1):c.*2374C>T rs753029528 0.00036
NM_022336.4(EDAR):c.1000G>A (p.Ala334Thr) rs752662417 0.00036
NM_024589.3(ROGDI):c.859T>C (p.Phe287Leu) rs149138180 0.00036
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) rs148626512 0.00036
NM_145861.4(EDARADD):c.*757A>C rs201197563 0.00036
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_001005337.3(PKP1):c.*2623C>G rs550560601 0.00035
NM_001143992.2(WRAP53):c.720A>G (p.Pro240=) rs199901527 0.00035
NM_001793.6(CDH3):c.-36C>T rs373351410 0.00035
NM_002855.5(NECTIN1):c.561T>A (p.Thr187=) rs144990451 0.00035
NM_014112.5(TRPS1):c.*338del rs530055629 0.00035
NM_020639.3(RIPK4):c.936+6G>A rs199827829 0.00035
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730 0.00035
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser) rs142655964 0.00035
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys) rs369531662 0.00035
NM_001005337.3(PKP1):c.*2559A>G rs563345525 0.00034
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) rs113967308 0.00034
NM_025099.6(CTC1):c.*1853G>A rs540866407 0.00034
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_052989.3(IFT122):c.1553G>A (p.Arg518His) rs138223055 0.00034
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_198253.3(TERT):c.219+7C>T rs573817924 0.00034
NM_001005337.3(PKP1):c.*1730G>A rs186347223 0.00033
NM_001814.6(CTSC):c.-48G>A rs200415443 0.00033
NM_002855.5(NECTIN1):c.*348C>T rs748100409 0.00033
NM_025099.6(CTC1):c.*797C>T rs142486253 0.00033
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00033
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) rs200172266 0.00032
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) rs778513540 0.00032
NM_001283009.2(RTEL1):c.2146G>A (p.Ala716Thr) rs200003693 0.00032
NM_001283009.2(RTEL1):c.489C>T (p.Cys163=) rs142058793 0.00032
NM_025099.6(CTC1):c.*1540C>T rs755418655 0.00032
NM_052989.3(IFT122):c.2643C>T (p.Ala881=) rs150055466 0.00032
NM_145861.4(EDARADD):c.*272G>A rs760609411 0.00032
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn) rs142662151 0.00031
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr) rs202104741 0.00031
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633 0.00031
NM_001143992.2(WRAP53):c.1269-13C>T rs371953585 0.00031
NM_001283009.2(RTEL1):c.3080C>T (p.Pro1027Leu) rs141782041 0.00031
NM_001283009.2(RTEL1):c.3590G>C (p.Gly1197Ala) rs138500086 0.00031
NM_001854.4(COL11A1):c.-198_-195del rs886044981 0.00031
NM_002855.5(NECTIN1):c.*3567G>A rs181207779 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_020779.4(WDR35):c.*1253C>G rs368665906 0.00031
NM_020779.4(WDR35):c.2965-4G>T rs199696980 0.00031
NM_022836.4(DCLRE1B):c.848G>A (p.Arg283His) rs143568469 0.00031
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_025099.6(CTC1):c.194A>G (p.Tyr65Cys) rs201731405 0.00031
NM_001099274.3(TINF2):c.-233T>G rs868258192 0.00030
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622 0.00030
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_020639.3(RIPK4):c.812G>A (p.Arg271Gln) rs144179743 0.00030
NM_020779.4(WDR35):c.*795C>T rs190700326 0.00030
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00030
NM_153717.3(EVC):c.-139G>A rs779841092 0.00030
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_198253.3(TERT):c.3333G>A (p.Thr1111=) rs200102606 0.00030
NM_000165.5(GJA1):c.*1252A>G rs976353489 0.00029
NM_000400.4(ERCC2):c.462C>G (p.His154Gln) rs139263710 0.00029
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00029
NM_004004.6(GJB2):c.*423C>T rs112457424 0.00029
NM_004004.6(GJB2):c.*598C>A rs550600399 0.00029
NM_025132.4(WDR19):c.1566C>T (p.Pro522=) rs200692490 0.00029
NM_025216.2(WNT10A):c.-341A>G rs762914440 0.00029
NM_025216.3(WNT10A):c.756+14C>T rs200733269 0.00029
NM_001283009.2(RTEL1):c.3900G>T (p.Gln1300His) rs374244090 0.00028
NM_001814.5(CTSC):c.-80G>C rs758293258 0.00028
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu) rs376216833 0.00028
NM_025216.3(WNT10A):c.668G>A (p.Arg223His) rs143424659 0.00028
NM_145861.4(EDARADD):c.*195G>T rs775159272 0.00028
NM_147127.5(EVC2):c.1886+11A>G rs61218140 0.00028
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_207118.3(GTF2H5):c.167G>A (p.Arg56Gln) rs181096841 0.00028
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met) rs143430766 0.00027
NM_001110219.3(GJB6):c.-106G>T rs555718664 0.00027
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_002855.5(NECTIN1):c.*1382T>C rs545288869 0.00027
NM_020779.4(WDR35):c.*1413C>T rs567295822 0.00027
NM_024589.3(ROGDI):c.658G>A (p.Ala220Thr) rs546063670 0.00027
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) rs200670161 0.00027
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_000165.5(GJA1):c.724G>A (p.Gly242Arg) rs138386744 0.00026
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_002855.5(NECTIN1):c.*1330G>C rs891490437 0.00026
NM_002855.5(NECTIN1):c.*2969A>T rs768510314 0.00026
NM_002855.5(NECTIN1):c.1471G>A (p.Asp491Asn) rs374643713 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_024589.3(ROGDI):c.378G>C (p.Leu126=) rs145588848 0.00026
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230 0.00026
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter) rs150616080 0.00025
NM_001110219.3(GJB6):c.*25C>T rs112845420 0.00025
NM_001793.4(CDH3):c.-983A>G rs151123159 0.00025
NM_004415.4(DSP):c.-157G>A rs886061742 0.00025
NM_025099.6(CTC1):c.*536T>G rs533538191 0.00025
NM_198253.3(TERT):c.403G>A (p.Gly135Arg) rs200843534 0.00025
NM_001005337.3(PKP1):c.*894T>C rs566087080 0.00024
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val) rs147933112 0.00024
NM_001283009.2(RTEL1):c.538+3A>G rs201706459 0.00024
NM_020639.3(RIPK4):c.1039G>A (p.Val347Ile) rs150480670 0.00024
NM_022336.4(EDAR):c.607G>A (p.Val203Ile) rs148212997 0.00024
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro) rs62637612 0.00024
NM_025099.6(CTC1):c.34-9T>G rs201195157 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_025132.4(WDR19):c.3484-15T>C rs376870184 0.00024
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_153717.3(EVC):c.2519C>T (p.Thr840Met) rs143464806 0.00024
NM_198253.3(TERT):c.*237C>T rs567092780 0.00024
NM_198253.3(TERT):c.2014C>T (p.Arg672Cys) rs368430301 0.00024
NM_002855.5(NECTIN1):c.618G>A (p.Thr206=) rs146567321 0.00023
NM_020639.3(RIPK4):c.*204G>A rs533596469 0.00023
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys) rs141190788 0.00023
NM_145861.4(EDARADD):c.*765G>A rs573814452 0.00023
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_000165.5(GJA1):c.*521G>C rs1270925038 0.00022
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650 0.00022
NM_001143992.2(WRAP53):c.1606G>A (p.Gly536Arg) rs80354016 0.00022
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu) rs201682415 0.00022
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu) rs28381069 0.00022
NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val) rs571554235 0.00022
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127 0.00022
NM_025216.2(WNT10A):c.-149G>T rs886055641 0.00022
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala) rs149527560 0.00022
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_198253.3(TERT):c.*83G>A rs533940688 0.00022
NR_003051.4(RMRP):n.125C>A rs758130879 0.00022
NR_003051.4(RMRP):n.164C>T rs550203343 0.00022
NC_000009.12:g.35657749A>G rs551655682 0.00021
NM_001005337.3(PKP1):c.1132C>T (p.Arg378Cys) rs200975137 0.00021
NM_001110219.3(GJB6):c.*192C>T rs761029974 0.00021
NM_001143992.2(WRAP53):c.187G>A (p.Val63Met) rs145760222 0.00021
NM_002582.4(PARN):c.1733T>G (p.Leu578Arg) rs748575531 0.00021
NM_002582.4(PARN):c.1785T>G (p.Asp595Glu) rs200434143 0.00021
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) rs762561997 0.00021
NM_020529.3(NFKBIA):c.*252T>G rs940642653 0.00021
NM_020529.3(NFKBIA):c.337-20G>A rs371120371 0.00021
NM_020779.4(WDR35):c.*1370G>A rs1039776865 0.00021
NM_025099.6(CTC1):c.*1534G>A rs561385282 0.00021
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys) rs201273283 0.00021
NM_145861.4(EDARADD):c.*1250C>T rs1018635371 0.00021
NM_147127.5(EVC2):c.2668G>A (p.Val890Met) rs371698182 0.00021
NM_153717.3(EVC):c.*302G>A rs560005309 0.00021
NM_153717.3(EVC):c.1807G>A (p.Val603Met) rs886042994 0.00021
NM_198253.3(TERT):c.3257G>A (p.Arg1086His) rs200288187 0.00021
NR_003051.4(RMRP):n.59_60insA rs1053360711 0.00021
NM_001099274.3(TINF2):c.507+6G>A rs142144996 0.00020
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=) rs78258482 0.00020
NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met) rs149145821 0.00020
NM_002448.3(MSX1):c.581A>G (p.Lys194Arg) rs149092063 0.00020
NM_002582.4(PARN):c.1493G>A (p.Ser498Asn) rs200471459 0.00020
NM_022836.4(DCLRE1B):c.394G>C (p.Ala132Pro) rs140411676 0.00020
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu) rs193183329 0.00020
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_001005337.3(PKP1):c.*1032C>T rs147193741 0.00019
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His) rs137914057 0.00019
NM_001283009.2(RTEL1):c.3278A>G (p.Asp1093Gly) rs374338519 0.00019
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr) rs151214675 0.00019
NM_001283009.2(RTEL1):c.3393G>A (p.Thr1131=) rs142965557 0.00019
NM_001793.6(CDH3):c.918C>T (p.Asp306=) rs201521473 0.00019
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_002582.4(PARN):c.943A>G (p.Thr315Ala) rs371788207 0.00019
NM_002855.5(NECTIN1):c.480G>A (p.Lys160=) rs145986556 0.00019
NM_002855.5(NECTIN1):c.79+4A>G rs542760632 0.00019
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_020639.3(RIPK4):c.*59C>T rs886057088 0.00019
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) rs140196566 0.00019
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe) rs202133913 0.00019
NM_024589.3(ROGDI):c.*454G>A rs540581745 0.00019
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.3340C>T (p.Pro1114Ser) rs370564569 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) rs368280129 0.00019
NM_052989.3(IFT122):c.2760G>A (p.Met920Ile) rs374188891 0.00019
NM_052989.3(IFT122):c.478A>G (p.Asn160Asp) rs199886551 0.00019
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223 0.00019
NM_153717.3(EVC):c.*3170T>C rs886059519 0.00019
NM_153717.3(EVC):c.-163G>A rs989585218 0.00019
NM_198253.3(TERT):c.2884C>T (p.Arg962Cys) rs144697790 0.00019
NR_003051.4(RMRP):n.2G>A rs773520232 0.00019
NM_001283009.2(RTEL1):c.2523C>T (p.Ser841=) rs764719355 0.00018
NM_020779.4(WDR35):c.1330C>T (p.Arg444Cys) rs148510977 0.00018
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp) rs141081316 0.00018
NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln) rs146482651 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile) rs184583316 0.00017
NM_000165.5(GJA1):c.1132G>A (p.Asp378Asn) rs553879521 0.00017
NM_001102564.3(IFT43):c.444+5G>A rs377078385 0.00017
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro) rs143248833 0.00017
NM_001793.6(CDH3):c.*3G>T rs372478072 0.00017
NM_002582.4(PARN):c.1213A>G (p.Lys405Glu) rs548716060 0.00017
NM_002855.5(NECTIN1):c.*3629C>G rs538935498 0.00017
NM_004278.4(PIGL):c.446G>C (p.Gly149Ala) rs140211194 0.00017
NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met) rs769393520 0.00017
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_025099.6(CTC1):c.-10C>T rs201782976 0.00017
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr) rs144831946 0.00017
NM_145861.4(EDARADD):c.*2052C>T rs759188384 0.00017
NM_147127.5(EVC2):c.1003C>T (p.Arg335Trp) rs148884226 0.00017
NM_153717.3(EVC):c.*1573T>A rs958649706 0.00017
NR_003051.4(RMRP):n.92A>C rs752723025 0.00017
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) rs529637184 0.00016
NM_000165.5(GJA1):c.*926A>T rs765290352 0.00016
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969 0.00016
NM_001283009.2(RTEL1):c.2921G>A (p.Arg974Gln) rs369716125 0.00016
NM_001793.6(CDH3):c.1339G>A (p.Val447Ile) rs145160881 0.00016
NM_001814.6(CTSC):c.259A>G (p.Ile87Val) rs45447392 0.00016
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) rs142378484 0.00016
NM_002855.5(NECTIN1):c.1194C>T (p.Asn398=) rs188936128 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser) rs369682599 0.00016
NM_015559.3(SETBP1):c.*1377G>A rs886053804 0.00016
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys) rs587784381 0.00016
NM_020779.4(WDR35):c.*1062G>A rs778834686 0.00016
NM_020779.4(WDR35):c.2254G>A (p.Glu752Lys) rs756006241 0.00016
NM_022336.4(EDAR):c.*1798G>C rs756408508 0.00016
NM_024589.3(ROGDI):c.541G>A (p.Ala181Thr) rs750166706 0.00016
NM_024589.3(ROGDI):c.577T>C (p.Tyr193His) rs376765258 0.00016
NM_025099.6(CTC1):c.*1046T>C rs550911189 0.00016
NM_025099.6(CTC1):c.*2530G>A rs780560618 0.00016
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=) rs531326479 0.00016
NM_025216.3(WNT10A):c.216G>T (p.Met72Ile) rs373607885 0.00016
NM_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603 0.00016
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640 0.00016
NM_153717.3(EVC):c.*2808C>T rs558094887 0.00016
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) rs141425941 0.00016
NR_003051.4(RMRP):n.160A>G rs535595484 0.00016
NM_001143992.2(WRAP53):c.46T>G (p.Ser16Ala) rs150282629 0.00015
NM_001283009.2(RTEL1):c.2899G>C (p.Val967Leu) rs149537474 0.00015
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile) rs561054389 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_004278.4(PIGL):c.439G>A (p.Asp147Asn) rs148238492 0.00015
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val) rs370951527 0.00015
NM_024589.3(ROGDI):c.823-15C>T rs372520122 0.00015
NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser) rs376302717 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_052989.3(IFT122):c.2458A>G (p.Ser820Gly) rs755556032 0.00015
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075 0.00015
NM_153717.3(EVC):c.*907C>T rs71599839 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NR_003051.4(RMRP):n.181dup rs940080676 0.00015
NC_000009.12:g.35658036G>C rs775303012 0.00014
NM_000165.5(GJA1):c.*1077T>C rs528853645 0.00014
NM_001005337.3(PKP1):c.*2281C>T rs1010792641 0.00014
NM_001082486.2(ACD):c.1334T>C (p.Phe445Ser) rs150078051 0.00014
NM_001099274.3(TINF2):c.1073_1081dup (p.Tyr360_Met361insAsnCysTyr) rs776727691 0.00014
NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr) rs35653076 0.00014
NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly) rs143962007 0.00014
NM_001283009.2(RTEL1):c.3361C>T (p.Arg1121Cys) rs374441172 0.00014
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln) rs758614807 0.00014
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys) rs146182103 0.00014
NM_003722.5(TP63):c.1480A>G (p.Thr494Ala) rs200203171 0.00014
NM_004278.4(PIGL):c.493A>C (p.Arg165=) rs184077858 0.00014
NM_004278.4(PIGL):c.595T>C (p.Leu199=) rs114176862 0.00014
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_022336.4(EDAR):c.68C>T (p.Ser23Leu) rs760731007 0.00014
NM_024589.3(ROGDI):c.781T>C (p.Phe261Leu) rs371511979 0.00014
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln) rs142411476 0.00014
NM_025099.6(CTC1):c.*1042T>C rs974655494 0.00014
NM_025099.6(CTC1):c.3151C>T (p.Arg1051Trp) rs370674203 0.00014
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) rs141539693 0.00014
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 0.00014
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00014
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00014
NM_153717.3(EVC):c.2098-10T>C rs774109576 0.00014
NM_198253.3(TERT):c.645C>T (p.Gly215=) rs768426236 0.00014
NM_000165.5(GJA1):c.706G>A (p.Val236Ile) rs148384161 0.00013
NM_000165.5(GJA1):c.784T>C (p.Ser262Pro) rs149442143 0.00013
NM_001005337.3(PKP1):c.1557C>T (p.Ser519=) rs150488138 0.00013
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu) rs149051014 0.00013
NM_001099274.3(TINF2):c.371C>T (p.Ala124Val) rs369712095 0.00013
NM_001283009.2(RTEL1):c.208C>T (p.Arg70Cys) rs778775766 0.00013
NM_001283009.2(RTEL1):c.2534C>T (p.Ala845Val) rs371852881 0.00013
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn) rs374771308 0.00013
NM_001793.6(CDH3):c.*405G>A rs778268579 0.00013
NM_001793.6(CDH3):c.390+5G>A rs570628442 0.00013
NM_004415.4(DSP):c.251G>A (p.Arg84Gln) rs373736975 0.00013
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_014112.5(TRPS1):c.1687T>A (p.Tyr563Asn) rs886062623 0.00013
NM_014112.5(TRPS1):c.3400G>A (p.Val1134Ile) rs143500511 0.00013
NM_020639.3(RIPK4):c.*1203A>T rs555235524 0.00013
NM_020639.3(RIPK4):c.277G>A (p.Gly93Ser) rs372343704 0.00013
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly) rs369515554 0.00013
NM_022336.4(EDAR):c.*188G>C rs768401042 0.00013
NM_025099.6(CTC1):c.*1177C>T rs886053604 0.00013
NM_025099.6(CTC1):c.*64T>G rs886053609 0.00013
NM_025099.6(CTC1):c.3083C>T (p.Ser1028Phe) rs779906449 0.00013
NM_025132.4(WDR19):c.1134+13T>G rs374615138 0.00013
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) rs373737104 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser) rs369010851 0.00013
NM_153717.3(EVC):c.*1871C>T rs150764469 0.00013
NM_153717.3(EVC):c.*2569C>T rs117573606 0.00013
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00013
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_153717.3(EVC):c.2449+4C>T rs753679138 0.00013
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
NM_001005337.3(PKP1):c.*1203C>T rs574230662 0.00012
NM_001005337.3(PKP1):c.*2460C>T rs916166946 0.00012
NM_001005337.3(PKP1):c.*2591G>A rs889060249 0.00012
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe) rs199740488 0.00012
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu) rs199698251 0.00012
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser) rs150686112 0.00012
NM_002855.5(NECTIN1):c.*795C>A rs750967066 0.00012
NM_003823.4(TNFRSF6B):c.785C>T (p.Thr262Met) rs766509761 0.00012
NM_004004.6(GJB2):c.*114T>C rs182085649 0.00012
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn) rs143727462 0.00012
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) rs202049575 0.00012
NM_014112.5(TRPS1):c.1279T>G (p.Ser427Ala) rs373510969 0.00012
NM_022336.4(EDAR):c.-256C>T rs970357940 0.00012
NM_025099.6(CTC1):c.*1630G>A rs77202978 0.00012
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met) rs375566943 0.00012
NM_153717.3(EVC):c.*1369G>A rs1414205292 0.00012
NM_153717.3(EVC):c.*1403C>T rs547015924 0.00012
NM_153717.3(EVC):c.-20C>A rs991444136 0.00012
NR_003051.4(RMRP):n.112G>A rs1031995271 0.00012
NR_003051.4(RMRP):n.90G>A rs780957606 0.00012
NM_000165.5(GJA1):c.*444A>G rs919415571 0.00011
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly) rs201828535 0.00011
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln) rs782604431 0.00011
NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=) rs138784430 0.00011
NM_001283009.2(RTEL1):c.2474T>C (p.Val825Ala) rs778102066 0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001283009.2(RTEL1):c.3022G>A (p.Val1008Met) rs145335410 0.00011
NM_001283009.2(RTEL1):c.3239T>C (p.Leu1080Ser) rs770243852 0.00011
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg) rs376632263 0.00011
NM_001793.4(CDH3):c.-1085A>G rs768872455 0.00011
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) rs201849355 0.00011
NM_002582.4(PARN):c.1151A>G (p.Tyr384Cys) rs199551987 0.00011
NM_002582.4(PARN):c.1613G>C (p.Arg538Pro) rs377199187 0.00011
NM_002855.5(NECTIN1):c.*201G>A rs982875298 0.00011
NM_003722.5(TP63):c.1814G>A (p.Arg605Gln) rs142981128 0.00011
NM_004004.6(GJB2):c.*800A>G rs886050027 0.00011
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln) rs766933370 0.00011
NM_014112.5(TRPS1):c.3140C>T (p.Pro1047Leu) rs200876887 0.00011
NM_018081.2(WRAP53):c.-255G>A rs564330662 0.00011
NM_020639.3(RIPK4):c.1779G>A (p.Pro593=) rs202049606 0.00011
NM_020639.3(RIPK4):c.2041G>A (p.Gly681Arg) rs371444612 0.00011
NM_020779.4(WDR35):c.*2618G>A rs563586298 0.00011
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys) rs374073530 0.00011
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln) rs539243373 0.00011
NM_022336.4(EDAR):c.*499C>T rs886054743 0.00011
NM_022336.4(EDAR):c.122C>A (p.Thr41Lys) rs368553609 0.00011
NM_024589.3(ROGDI):c.178A>G (p.Asn60Asp) rs997016379 0.00011
NM_024589.3(ROGDI):c.517G>A (p.Ala173Thr) rs544047205 0.00011
NM_024589.3(ROGDI):c.523G>A (p.Gly175Ser) rs376116493 0.00011
NM_024589.3(ROGDI):c.691A>G (p.Met231Val) rs137934107 0.00011
NM_024589.3(ROGDI):c.851A>G (p.Tyr284Cys) rs370584122 0.00011
NM_025099.6(CTC1):c.*1125G>C rs779298230 0.00011
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414 0.00011
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) rs193273000 0.00011
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys) rs548534755 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu) rs199980023 0.00011
NM_025216.3(WNT10A):c.347T>C (p.Ile116Thr) rs762311530 0.00011
NM_025216.3(WNT10A):c.427C>T (p.His143Tyr) rs202024965 0.00011
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_145861.4(EDARADD):c.*1508C>T rs886046196 0.00011
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys) rs371876802 0.00011
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) rs145786485 0.00011
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu) rs369153874 0.00011
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu) rs138882677 0.00011
NM_153717.3(EVC):c.*1568C>T rs886059514 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_153717.3(EVC):c.299A>G (p.Asp100Gly) rs1282571678 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln) rs144779807 0.00011
NM_000165.5(GJA1):c.*1334T>C rs749953074 0.00010
NM_000165.5(GJA1):c.*191G>A rs886061012 0.00010
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln) rs200293827 0.00010
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser) rs200454893 0.00010
NM_001283009.2(RTEL1):c.2413+4C>T rs761756257 0.00010
NM_001283009.2(RTEL1):c.250C>T (p.Arg84Trp) rs373874416 0.00010
NM_001283009.2(RTEL1):c.3103C>T (p.Pro1035Ser) rs754768798 0.00010
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val) rs141578937 0.00010
NM_001793.6(CDH3):c.*498G>A rs746152331 0.00010
NM_001793.6(CDH3):c.2361C>T (p.Ser787=) rs201352240 0.00010
NM_001814.6(CTSC):c.29C>T (p.Ala10Val) rs765499436 0.00010
NM_002582.4(PARN):c.1046G>A (p.Arg349Gln) rs201053607 0.00010
NM_002855.5(NECTIN1):c.*2439G>A rs899031960 0.00010
NM_002855.5(NECTIN1):c.*3425G>A rs963530966 0.00010
NM_004278.4(PIGL):c.354A>G (p.Pro118=) rs149094276 0.00010
NM_004278.4(PIGL):c.542C>T (p.Thr181Met) rs748231024 0.00010
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395 0.00010
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_014112.5(TRPS1):c.-487A>C rs886062633 0.00010
NM_018648.4(NOP10):c.*172T>G rs886051058 0.00010
NM_020639.3(RIPK4):c.*1248C>T rs755144689 0.00010
NM_020639.3(RIPK4):c.*60G>A rs886057087 0.00010
NM_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val) rs142747676 0.00010
NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys) rs368157267 0.00010
NM_025099.6(CTC1):c.*1201T>C rs886053603 0.00010
NM_025099.6(CTC1):c.*1475A>G rs745973862 0.00010
NM_025099.6(CTC1):c.*1861A>G rs868663416 0.00010
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr) rs367822614 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg) rs190192706 0.00010
NM_025132.4(WDR19):c.2464A>G (p.Ile822Val) rs138364911 0.00010
NM_025216.2(WNT10A):c.-270G>C rs774035749 0.00010
NM_025216.3(WNT10A):c.444G>A (p.Ala148=) rs147145554 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln) rs781994662 0.00010
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg) rs201555920 0.00010
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 0.00010
NM_153717.3(EVC):c.*2847G>A rs935054019 0.00010
NM_153717.3(EVC):c.*355C>G rs933138943 0.00010
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr) rs145645536 0.00010
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621 0.00010
NM_198253.3(TERT):c.3332C>T (p.Thr1111Met) rs370686937 0.00010
NR_003051.4(RMRP):n.67A>G rs530883024 0.00010
NM_000400.4(ERCC2):c.1238-1192G>A rs180850149 0.00009
NM_001005337.3(PKP1):c.*2778C>T rs886045826 0.00009
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser) rs370512338 0.00009
NM_001099274.3(TINF2):c.1081A>G (p.Met361Val) rs201787600 0.00009
NM_001110219.3(GJB6):c.-295-192A>G rs886050036 0.00009
NM_001110219.3(GJB6):c.-33G>A rs533982140 0.00009
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846 0.00009
NM_001143992.2(WRAP53):c.-62C>T rs748265946 0.00009
NM_001283009.2(RTEL1):c.1161C>T (p.Ala387=) rs141241780 0.00009
NM_001283009.2(RTEL1):c.1395C>T (p.His465=) rs376423914 0.00009
NM_001283009.2(RTEL1):c.2935C>T (p.Arg979Trp) rs144034326 0.00009
NM_001283009.2(RTEL1):c.3064C>G (p.Leu1022Val) rs200933423 0.00009
NM_001283009.2(RTEL1):c.3137G>A (p.Gly1046Glu) rs772914279 0.00009
NM_001814.6(CTSC):c.-49C>T rs779871521 0.00009
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) rs200627023 0.00009
NM_002582.4(PARN):c.702+5C>T rs368739970 0.00009
NM_002855.5(NECTIN1):c.*1184G>T rs370017613 0.00009
NM_002855.5(NECTIN1):c.*2551T>G rs570496726 0.00009
NM_002855.5(NECTIN1):c.*853C>G rs368934157 0.00009
NM_002855.5(NECTIN1):c.1333G>A (p.Gly445Ser) rs539461545 0.00009
NM_002855.5(NECTIN1):c.1520G>A (p.Gly507Glu) rs202095358 0.00009
NM_002855.5(NECTIN1):c.502C>T (p.Leu168=) rs149093951 0.00009
NM_003722.5(TP63):c.1121C>T (p.Thr374Met) rs199807776 0.00009
NM_003722.5(TP63):c.1367C>T (p.Pro456Leu) rs201479097 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn) rs200104963 0.00009
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018 0.00009
NM_004415.4(DSP):c.424C>T (p.Leu142Phe) rs373769397 0.00009
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser) rs376005629 0.00009
NM_017838.4(NHP2):c.394C>T (p.His132Tyr) rs146766601 0.00009
NM_020639.3(RIPK4):c.*1117T>C rs941229311 0.00009
NM_020639.3(RIPK4):c.1862G>A (p.Arg621His) rs56056485 0.00009
NM_020639.3(RIPK4):c.959G>A (p.Arg320Gln) rs187728866 0.00009
NM_020779.4(WDR35):c.*2559A>G rs751743368 0.00009
NM_020779.4(WDR35):c.*2887T>C rs749198501 0.00009
NM_020779.4(WDR35):c.*712A>T rs572859023 0.00009
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly) rs139543775 0.00009
NM_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn) rs200392246 0.00009
NM_024589.3(ROGDI):c.*54C>G rs76593206 0.00009
NM_024589.3(ROGDI):c.218G>C (p.Gly73Ala) rs201865380 0.00009
NM_024589.3(ROGDI):c.410A>G (p.Lys137Arg) rs374819268 0.00009
NM_024589.3(ROGDI):c.574G>A (p.Val192Ile) rs201931071 0.00009
NM_024589.3(ROGDI):c.659C>G (p.Ala220Gly) rs138707436 0.00009
NM_025099.6(CTC1):c.*2353A>G rs559152657 0.00009
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 0.00009
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837 0.00009
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165 0.00009
NM_025099.6(CTC1):c.50A>G (p.Glu17Gly) rs200054513 0.00009
NM_025132.4(WDR19):c.2364-15T>C rs771036360 0.00009
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) rs563367049 0.00009
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val) rs115715082 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter) rs200446614 0.00009
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00009
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg) rs142738089 0.00009
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816 0.00009
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu) rs201330213 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NR_003051.4(RMRP):n.121C>T rs549849356 0.00009
NC_000009.12:g.35658040A>G rs947939533 0.00008
NM_001082486.2(ACD):c.-24C>T rs770445581 0.00008
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser) rs775607009 0.00008
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu) rs374925782 0.00008
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val) rs369249473 0.00008
NM_001099274.3(TINF2):c.590G>A (p.Gly197Glu) rs540798467 0.00008
NM_001110219.3(GJB6):c.672A>G (p.Arg224=) rs756597598 0.00008
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) rs201340741 0.00008
NM_001143992.2(WRAP53):c.495C>T (p.Ser165=) rs147817526 0.00008
NM_001143992.2(WRAP53):c.956-6del rs773916846 0.00008
NM_001283009.2(RTEL1):c.1602C>T (p.Ser534=) rs745339095 0.00008
NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=) rs146666432 0.00008
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln) rs373996455 0.00008
NM_001283009.2(RTEL1):c.3107C>G (p.Thr1036Arg) rs138576158 0.00008
NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val) rs202157063 0.00008
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001793.6(CDH3):c.1632T>G (p.His544Gln) rs779777939 0.00008
NM_001793.6(CDH3):c.798C>T (p.His266=) rs748455192 0.00008
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_002582.4(PARN):c.1405+3A>G rs368839652 0.00008
NM_002855.5(NECTIN1):c.*3365G>A rs574961662 0.00008
NM_002855.5(NECTIN1):c.1182C>T (p.His394=) rs761931104 0.00008
NM_003823.4(TNFRSF6B):c.772C>T (p.Arg258Cys) rs570762078 0.00008
NM_004278.4(PIGL):c.4G>A (p.Glu2Lys) rs150000731 0.00008
NM_004278.4(PIGL):c.627C>T (p.Phe209=) rs146164310 0.00008
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459 0.00008
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe) rs1431507005 0.00008
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile) rs757394666 0.00008
NM_014112.5(TRPS1):c.3797C>T (p.Thr1266Met) rs376875568 0.00008
NM_020779.4(WDR35):c.*563T>G rs561642193 0.00008
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys) rs201860485 0.00008
NM_022336.4(EDAR):c.*2189G>T rs547979348 0.00008
NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp) rs777030988 0.00008
NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn) rs370614998 0.00008
NM_024589.3(ROGDI):c.20C>A (p.Ala7Glu) rs752140233 0.00008
NM_024589.3(ROGDI):c.301G>A (p.Ala101Thr) rs371783831 0.00008
NM_025099.6(CTC1):c.*474G>A rs139392724 0.00008
NM_025099.6(CTC1):c.1379G>A (p.Arg460His) rs200619397 0.00008
NM_025099.6(CTC1):c.1946-6C>T rs369285521 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 0.00008
NM_025099.6(CTC1):c.2896C>T (p.Arg966Trp) rs200208356 0.00008
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln) rs778830884 0.00008
NM_025099.6(CTC1):c.484C>T (p.Arg162Cys) rs367666200 0.00008
NM_025099.6(CTC1):c.616C>G (p.Pro206Ala) rs778922727 0.00008
NM_025099.6(CTC1):c.878G>C (p.Gly293Ala) rs377324497 0.00008
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala) rs773816730 0.00008
NM_025132.4(WDR19):c.1357-7G>A rs377101599 0.00008
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_052989.3(IFT122):c.-3G>A rs367704478 0.00008
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.2721G>A (p.Ala907=) rs371570973 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_145861.4(EDARADD):c.*863C>T rs570062425 0.00008
NM_147127.5(EVC2):c.1456C>T (p.Arg486Cys) rs780919705 0.00008
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723 0.00008
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg) rs200743695 0.00008
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln) rs752020764 0.00008
NM_198253.3(TERT):c.2127C>G (p.Val709=) rs765264494 0.00008
NR_003051.4(RMRP):n.150C>T rs977992022 0.00008
NC_000009.12:g.35657748A>G rs377349293 0.00007
NM_000165.5(GJA1):c.-161G>T rs764033415 0.00007
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00007
NM_001110219.3(GJB6):c.30C>T (p.Ile10=) rs377181573 0.00007
NM_001283009.2(RTEL1):c.1310G>C (p.Arg437Pro) rs537151019 0.00007
NM_001283009.2(RTEL1):c.1722+3G>A rs200599544 0.00007
NM_001283009.2(RTEL1):c.3589G>A (p.Gly1197Ser) rs545606632 0.00007
NM_001283009.2(RTEL1):c.94C>T (p.Leu32=) rs375849124 0.00007
NM_001283009.2(RTEL1):c.958+3A>G rs200787633 0.00007
NM_001363.5(DKC1):c.494G>C (p.Gly165Ala) rs782622660 0.00007
NM_001793.6(CDH3):c.2115G>A (p.Gly705=) rs200124759 0.00007
NM_001793.6(CDH3):c.318G>A (p.Lys106=) rs886052229 0.00007
NM_002582.4(PARN):c.1006-11G>A rs746114163 0.00007
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402 0.00007
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) rs144106775 0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_020779.4(WDR35):c.*1146T>C rs1036362475 0.00007
NM_020779.4(WDR35):c.*1207C>G rs1466981368 0.00007
NM_020779.4(WDR35):c.2230G>A (p.Glu744Lys) rs1420842472 0.00007
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu) rs774768083 0.00007
NM_025099.6(CTC1):c.*1711A>G rs563822041 0.00007
NM_025099.6(CTC1):c.*2842G>A rs1035127593 0.00007
NM_025099.6(CTC1):c.1052G>A (p.Arg351Gln) rs371166242 0.00007
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr) rs139078502 0.00007
NM_025099.6(CTC1):c.2611G>A (p.Val871Met) rs369255297 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025099.6(CTC1):c.3191C>T (p.Thr1064Met) rs1001797761 0.00007
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) rs369201153 0.00007
NM_025132.4(WDR19):c.1839A>G (p.Leu613=) rs201320006 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe) rs763332787 0.00007
NM_052989.3(IFT122):c.2315T>A (p.Ile772Asn) rs371325633 0.00007
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_153717.3(EVC):c.*662G>A rs866110948 0.00007
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00007
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly) rs540660500 0.00007
NM_198253.3(TERT):c.2108C>T (p.Pro703Leu) rs564647937 0.00007
NM_198253.3(TERT):c.569C>T (p.Ala190Val) rs781435225 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NR_003051.4(RMRP):n.51C>T rs1030486815 0.00007
NC_000003.12:g.169764701G>C rs777348518 0.00006
NM_000165.5(GJA1):c.508T>G (p.Leu170Val) rs377077470 0.00006
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala) rs759116129 0.00006
NM_000400.4(ERCC2):c.491A>G (p.His164Arg) rs769656890 0.00006
NM_001005337.3(PKP1):c.*1716C>T rs543171855 0.00006
NM_001005337.3(PKP1):c.1200T>C (p.Pro400=) rs375406840 0.00006
NM_001005337.3(PKP1):c.1585C>T (p.Arg529Cys) rs747503125 0.00006
NM_001005337.3(PKP1):c.346C>T (p.Arg116Cys) rs536458815 0.00006
NM_001005337.3(PKP1):c.417C>T (p.Gly139=) rs374045033 0.00006
NM_001099274.3(TINF2):c.-277C>G rs886050435 0.00006
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995 0.00006
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741 0.00006
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu) rs778799892 0.00006
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser) rs554856028 0.00006
NM_001110219.3(GJB6):c.-296+210C>A rs886050039 0.00006
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724 0.00006
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) rs200480676 0.00006
NM_001143992.2(WRAP53):c.1522G>A (p.Val508Ile) rs768089496 0.00006
NM_001143992.2(WRAP53):c.208G>T (p.Gly70Trp) rs976099760 0.00006
NM_001283009.2(RTEL1):c.2261G>A (p.Arg754Gln) rs141423196 0.00006
NM_001283009.2(RTEL1):c.2548G>A (p.Glu850Lys) rs757613157 0.00006
NM_001283009.2(RTEL1):c.2707G>A (p.Val903Met) rs143317975 0.00006
NM_001283009.2(RTEL1):c.2903G>C (p.Cys968Ser) rs375503989 0.00006
NM_001283009.2(RTEL1):c.3357T>C (p.Phe1119=) rs371805350 0.00006
NM_001283009.2(RTEL1):c.3508C>T (p.Arg1170Trp) rs773894104 0.00006
NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln) rs375593361 0.00006
NM_001363.5(DKC1):c.1167G>A (p.Lys389=) rs369066088 0.00006
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr) rs372511229 0.00006
NM_001793.6(CDH3):c.1593G>A (p.Thr531=) rs147208782 0.00006
NM_001793.6(CDH3):c.2419G>A (p.Asp807Asn) rs535174122 0.00006
NM_001793.6(CDH3):c.34C>T (p.Leu12Phe) rs373974671 0.00006
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_002448.3(MSX1):c.817G>A (p.Gly273Ser) rs184700656 0.00006
NM_002582.4(PARN):c.1501G>T (p.Ala501Ser) rs199651788 0.00006
NM_002582.4(PARN):c.1660C>T (p.Arg554Cys) rs754540436 0.00006
NM_002582.4(PARN):c.745C>T (p.Arg249Cys) rs774170618 0.00006
NM_002582.4(PARN):c.840+4A>G rs777207121 0.00006
NM_002582.4(PARN):c.917C>T (p.Ala306Val) rs201362263 0.00006
NM_002755.4(MAP2K1):c.*148_*149del rs745540522 0.00006
NM_002755.4(MAP2K1):c.56C>G (p.Ala19Gly) rs727504413 0.00006
NM_002855.5(NECTIN1):c.*2847C>T rs572933507 0.00006
NM_002855.5(NECTIN1):c.*3032T>C rs774879984 0.00006
NM_002855.5(NECTIN1):c.*886C>T rs992176073 0.00006
NM_002855.5(NECTIN1):c.177C>T (p.Ser59=) rs139418917 0.00006
NM_002855.5(NECTIN1):c.429G>A (p.Met143Ile) rs371142221 0.00006
NM_003722.5(TP63):c.2021G>A (p.Arg674His) rs34713855 0.00006
NM_004004.6(GJB2):c.-1G>A rs768338285 0.00006
NM_004278.4(PIGL):c.*184A>C rs886052643 0.00006
NM_004333.6(BRAF):c.52C>G (p.Leu18Val) rs1222192591 0.00006
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys) rs773113261 0.00006
NM_004415.4(DSP):c.259C>G (p.Leu87Val) rs377652477 0.00006
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu) rs535762713 0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079 0.00006
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val) rs753270443 0.00006
NM_004415.4(DSP):c.4022G>A (p.Arg1341His) rs112242645 0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877 0.00006
NM_004415.4(DSP):c.4793T>A (p.Leu1598Gln) rs369449858 0.00006
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn) rs138588403 0.00006
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser) rs149773722 0.00006
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) rs142927608 0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp) rs149827779 0.00006
NM_004985.5(KRAS):c.451-5560T>A rs373169526 0.00006
NM_014112.5(TRPS1):c.99C>G (p.Ile33Met) rs61758125 0.00006
NM_017838.4(NHP2):c.289A>G (p.Met97Val) rs372840247 0.00006
NM_017838.4(NHP2):c.290T>C (p.Met97Thr) rs147530082 0.00006
NM_017838.4(NHP2):c.328T>A (p.Ser110Thr) rs780696831 0.00006
NM_020639.3(RIPK4):c.*1081C>T rs886057082 0.00006
NM_020639.3(RIPK4):c.*281G>A rs576215477 0.00006
NM_020639.3(RIPK4):c.1344C>T (p.Ala448=) rs577583084 0.00006
NM_020639.3(RIPK4):c.1681G>A (p.Val561Met) rs773070455 0.00006
NM_020639.3(RIPK4):c.474+14C>T rs532592992 0.00006
NM_020779.4(WDR35):c.1250A>T (p.Asp417Val) rs371757004 0.00006
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln) rs146380332 0.00006
NM_020779.4(WDR35):c.2137G>A (p.Asp713Asn) rs778732776 0.00006
NM_020779.4(WDR35):c.2644G>A (p.Val882Ile) rs377535267 0.00006
NM_020779.4(WDR35):c.2930C>T (p.Ala977Val) rs754516323 0.00006
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser) rs200258619 0.00006
NM_020779.4(WDR35):c.817T>G (p.Phe273Val) rs370377789 0.00006
NM_022336.4(EDAR):c.*1710G>C rs1042398708 0.00006
NM_022336.4(EDAR):c.*402G>A rs758376546 0.00006
NM_022336.4(EDAR):c.224C>T (p.Pro75Leu) rs748806220 0.00006
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg) rs764178255 0.00006
NM_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala) rs200134441 0.00006
NM_022836.4(DCLRE1B):c.929T>A (p.Leu310Gln) rs201436658 0.00006
NM_024589.2(ROGDI):c.-127C>T rs996686042 0.00006
NM_024589.3(ROGDI):c.397A>G (p.Ser133Gly) rs987191768 0.00006
NM_024589.3(ROGDI):c.485C>A (p.Thr162Asn) rs754416466 0.00006
NM_024589.3(ROGDI):c.584A>G (p.Asn195Ser) rs201116642 0.00006
NM_024589.3(ROGDI):c.822+14G>A rs200558978 0.00006
NM_025099.6(CTC1):c.*1166C>T rs753309673 0.00006
NM_025099.6(CTC1):c.1264G>A (p.Ala422Thr) rs369078832 0.00006
NM_025099.6(CTC1):c.1274T>C (p.Leu425Pro) rs371812914 0.00006
NM_025099.6(CTC1):c.1378C>T (p.Arg460Cys) rs561676622 0.00006
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys) rs759152295 0.00006
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583 0.00006
NM_025099.6(CTC1):c.2472C>T (p.Pro824=) rs558802130 0.00006
NM_025099.6(CTC1):c.2510G>C (p.Cys837Ser) rs377390001 0.00006
NM_025099.6(CTC1):c.2575A>T (p.Thr859Ser) rs780809830 0.00006
NM_025099.6(CTC1):c.257C>T (p.Ser86Leu) rs778742090 0.00006
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly) rs202226502 0.00006
NM_025099.6(CTC1):c.3337G>A (p.Val1113Met) rs543241073 0.00006
NM_025099.6(CTC1):c.596C>T (p.Thr199Met) rs747323535 0.00006
NM_025099.6(CTC1):c.884G>A (p.Arg295His) rs763386935 0.00006
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly) rs371744495 0.00006
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser) rs758716599 0.00006
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys) rs779337768 0.00006
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_025132.4(WDR19):c.785G>A (p.Gly262Glu) rs778096567 0.00006
NM_025132.4(WDR19):c.842T>C (p.Ile281Thr) rs369657594 0.00006
NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln) rs730880514 0.00006
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met) rs769471250 0.00006
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln) rs140111079 0.00006
NM_033360.4(KRAS):c.*2815C>T rs886049185 0.00006
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp) rs139079256 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln) rs146270512 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.273-268A>T rs376246143 0.00006
NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser) rs555281580 0.00006
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His) rs576743578 0.00006
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys) rs771499492 0.00006
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_052989.3(IFT122):c.783G>A (p.Gln261=) rs144727222 0.00006
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser) rs782056388 0.00006
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile) rs782716325 0.00006
NM_145861.4(EDARADD):c.*1004G>A rs750918090 0.00006
NM_145861.4(EDARADD):c.*100C>T rs886046187 0.00006
NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln) rs757261515 0.00006
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys) rs377461598 0.00006
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys) rs144270330 0.00006
NM_147127.5(EVC2):c.2267A>C (p.Asn756Thr) rs146837459 0.00006
NM_147127.5(EVC2):c.2829+9A>C rs370232376 0.00006
NM_147127.5(EVC2):c.337C>T (p.Leu113Phe) rs768224457 0.00006
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00006
NM_153717.3(EVC):c.*1150A>G rs1195713966 0.00006
NM_153717.3(EVC):c.*1313C>T rs548196260 0.00006
NM_153717.3(EVC):c.*1554A>C rs531598994 0.00006
NM_153717.3(EVC):c.*2321C>T rs928733602 0.00006
NM_153717.3(EVC):c.*2361C>T rs570533057 0.00006
NM_153717.3(EVC):c.*3118C>G rs906071299 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_198253.3(TERT):c.1025G>A (p.Arg342Gln) rs773366454 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys) rs147521473 0.00006
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_198253.3(TERT):c.737C>T (p.Pro246Leu) rs377315722 0.00006
NR_003051.4(RMRP):n.107_108insT rs775287390 0.00006
NR_003051.4(RMRP):n.116G>A rs747605028 0.00006
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NR_003051.4(RMRP):n.56C>T rs1032219537 0.00006
NM_000122.2(ERCC3):c.385G>A (p.Val129Ile) rs145762413 0.00005
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) rs374798062 0.00005
NM_001005337.3(PKP1):c.*1040G>A rs774719541 0.00005
NM_001005337.3(PKP1):c.*1643C>A rs548099839 0.00005
NM_001005337.3(PKP1):c.1747C>T (p.Leu583=) rs369918615 0.00005
NM_001082486.2(ACD):c.100-7C>G rs774058030 0.00005
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg) rs553014261 0.00005
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys) rs531580930 0.00005
NM_001082486.2(ACD):c.1226G>A (p.Arg409His) rs374742891 0.00005
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met) rs372747629 0.00005
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys) rs200909340 0.00005
NM_001082486.2(ACD):c.617A>C (p.His206Pro) rs755371076 0.00005
NM_001082486.2(ACD):c.793C>G (p.Leu265Val) rs200934242 0.00005
NM_001099274.3(TINF2):c.1253T>C (p.Phe418Ser) rs773286175 0.00005
NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn) rs765992492 0.00005
NM_001099274.3(TINF2):c.61C>G (p.Gln21Glu) rs767648367 0.00005
NM_001102564.3(IFT43):c.397C>T (p.Arg133Cys) rs372547166 0.00005
NM_001110219.3(GJB6):c.-149G>A rs886050032 0.00005
NM_001143992.2(WRAP53):c.1484G>C (p.Gly495Ala) rs777880143 0.00005
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_001283009.2(RTEL1):c.1135C>T (p.Arg379Cys) rs201938707 0.00005
NM_001283009.2(RTEL1):c.1191+6G>T rs760073413 0.00005
NM_001283009.2(RTEL1):c.1399C>G (p.Leu467Val) rs369714122 0.00005
NM_001283009.2(RTEL1):c.1863G>A (p.Ala621=) rs553627522 0.00005
NM_001283009.2(RTEL1):c.2275C>G (p.Pro759Ala) rs775121139 0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00005
NM_001283009.2(RTEL1):c.2318C>G (p.Ala773Gly) rs746270116 0.00005
NM_001283009.2(RTEL1):c.2834A>G (p.Lys945Arg) rs369064972 0.00005
NM_001283009.2(RTEL1):c.3109+5C>T rs372267276 0.00005
NM_001283009.2(RTEL1):c.3178G>A (p.Val1060Met) rs116768542 0.00005
NM_001283009.2(RTEL1):c.3221C>T (p.Ala1074Val) rs370571374 0.00005
NM_001283009.2(RTEL1):c.3277G>A (p.Asp1093Asn) rs767674666 0.00005
NM_001283009.2(RTEL1):c.3344-4G>A rs367703929 0.00005
NM_001283009.2(RTEL1):c.3592G>A (p.Glu1198Lys) rs771457769 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_001793.6(CDH3):c.1240G>A (p.Ala414Thr) rs145203128 0.00005
NM_001793.6(CDH3):c.2227A>G (p.Met743Val) rs367654075 0.00005
NM_001793.6(CDH3):c.2469C>T (p.Tyr823=) rs576190086 0.00005
NM_001793.6(CDH3):c.547-12T>C rs370978420 0.00005
NM_002448.3(MSX1):c.365G>T (p.Gly122Val) rs28933081 0.00005
NM_002582.4(PARN):c.1655A>G (p.Tyr552Cys) rs375813873 0.00005
NM_002582.4(PARN):c.168G>C (p.Lys56Asn) rs375964590 0.00005
NM_002582.4(PARN):c.1891A>G (p.Thr631Ala) rs200677089 0.00005
NM_002582.4(PARN):c.19+4C>T rs748893191 0.00005
NM_002582.4(PARN):c.407A>T (p.Gln136Leu) rs374762200 0.00005
NM_002855.5(NECTIN1):c.*1368G>A rs576817361 0.00005
NM_002855.5(NECTIN1):c.*521G>C rs998507978 0.00005
NM_002855.5(NECTIN1):c.431-4G>A rs375284374 0.00005
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342 0.00005
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) rs749820299 0.00005
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val) rs372288373 0.00005
NM_004415.4(DSP):c.5221G>A (p.Ala1741Thr) rs777773801 0.00005
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln) rs751849031 0.00005
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061 0.00005
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln) rs367759510 0.00005
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp) rs767661570 0.00005
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu) rs374262024 0.00005
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln) rs769706539 0.00005
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr) rs376751288 0.00005
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys) rs144850908 0.00005
NM_004415.4(DSP):c.916G>A (p.Ala306Thr) rs368193211 0.00005
NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu) rs371482940 0.00005
NM_020639.3(RIPK4):c.*1206A>G rs369347545 0.00005
NM_020639.3(RIPK4):c.2139C>T (p.His713=) rs202070628 0.00005
NM_020639.3(RIPK4):c.504C>T (p.Asn168=) rs200523041 0.00005
NM_020779.4(WDR35):c.*1957C>T rs947201612 0.00005
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val) rs763618858 0.00005
NM_020779.4(WDR35):c.2580G>A (p.Met860Ile) rs201443916 0.00005
NM_020779.4(WDR35):c.2836G>A (p.Glu946Lys) rs779009587 0.00005
NM_020779.4(WDR35):c.2842A>T (p.Lys948Ter) rs749233041 0.00005
NM_025099.6(CTC1):c.*2146G>A rs773269538 0.00005
NM_025099.6(CTC1):c.*2296T>A rs777042904 0.00005
NM_025099.6(CTC1):c.*3079C>T rs890664978 0.00005
NM_025099.6(CTC1):c.1051C>T (p.Arg351Trp) rs374781255 0.00005
NM_025099.6(CTC1):c.1076C>T (p.Ser359Leu) rs561782597 0.00005
NM_025099.6(CTC1):c.1565G>A (p.Arg522Gln) rs375999182 0.00005
NM_025099.6(CTC1):c.17C>T (p.Ala6Val) rs371541763 0.00005
NM_025099.6(CTC1):c.1904T>G (p.Leu635Arg) rs763326051 0.00005
NM_025099.6(CTC1):c.198-3C>T rs761189766 0.00005
NM_025099.6(CTC1):c.1981G>A (p.Val661Ile) rs534923467 0.00005
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr) rs369721966 0.00005
NM_025099.6(CTC1):c.3281C>T (p.Ala1094Val) rs536983035 0.00005
NM_025099.6(CTC1):c.3286G>A (p.Ala1096Thr) rs748072446 0.00005
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219 0.00005
NM_025099.6(CTC1):c.562G>A (p.Val188Met) rs769331687 0.00005
NM_025099.6(CTC1):c.648-9C>T rs779778738 0.00005
NM_025099.6(CTC1):c.827G>A (p.Arg276Gln) rs761903168 0.00005
NM_025099.6(CTC1):c.873C>G (p.Ile291Met) rs199900567 0.00005
NM_025099.6(CTC1):c.887A>G (p.Gln296Arg) rs746829533 0.00005
NM_025132.4(WDR19):c.1173C>T (p.Asn391=) rs777985189 0.00005
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu) rs571678102 0.00005
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu) rs749621367 0.00005
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) rs757564170 0.00005
NM_025132.4(WDR19):c.592G>A (p.Ala198Thr) rs575149055 0.00005
NM_025216.3(WNT10A):c.205C>T (p.Arg69Trp) rs200487809 0.00005
NM_025216.3(WNT10A):c.551G>A (p.Arg184His) rs372756514 0.00005
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_030662.4(MAP2K2):c.536G>A (p.Arg179Gln) rs776316565 0.00005
NM_033360.4(KRAS):c.*2391_*2392insC rs886049188 0.00005
NM_052989.3(IFT122):c.228C>T (p.Ser76=) rs772835552 0.00005
NM_052989.3(IFT122):c.3046C>T (p.Arg1016Trp) rs776052135 0.00005
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile) rs138028750 0.00005
NM_052989.3(IFT122):c.54C>T (p.Ile18=) rs139138308 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp) rs755493101 0.00005
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp) rs760871098 0.00005
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His) rs139577475 0.00005
NM_147127.5(EVC2):c.3696G>T (p.Arg1232Ser) rs150551872 0.00005
NM_147127.5(EVC2):c.446G>A (p.Arg149His) rs202198132 0.00005
NM_153717.3(EVC):c.*1766C>T rs1012765159 0.00005
NM_153717.3(EVC):c.1019G>A (p.Arg340Gln) rs775052481 0.00005
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln) rs767013073 0.00005
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610 0.00005
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196 0.00005
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2141C>T (p.Thr714Met) rs772441504 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_198253.3(TERT):c.3302C>T (p.Thr1101Met) rs764602705 0.00005
NR_001566.3(TERC):n.234C>T rs1032106566 0.00005
NR_003051.4(RMRP):n.137C>T rs940224067 0.00005
NR_003051.4(RMRP):n.139C>T rs928825069 0.00005
NR_003051.4(RMRP):n.229C>T rs560328768 0.00005
NR_003051.4(RMRP):n.36A>G rs572081363 0.00005
NR_003051.4(RMRP):n.37C>A rs549085067 0.00005
NC_000003.12:g.169764710G>C rs925088948 0.00004
NC_000016.10:g.67660342del rs753666055 0.00004
NC_000016.10:g.67660363C>T rs199612237 0.00004
NC_000016.10:g.67660399C>T rs778255016 0.00004
NC_000016.10:g.67660459C>G rs373593390 0.00004
NC_000020.11:g.63698646G>A rs767909940 0.00004
NM_000122.2(ERCC3):c.350A>G (p.Lys117Arg) rs1805161 0.00004
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582 0.00004
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn) rs765459582 0.00004
NM_000165.5(GJA1):c.868A>G (p.Thr290Ala) rs562513101 0.00004
NM_000400.4(ERCC2):c.1585G>A (p.Ala529Thr) rs370819591 0.00004
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr) rs201382232 0.00004
NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln) rs367829012 0.00004
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp) rs139884931 0.00004
NM_001005337.3(PKP1):c.*320G>T rs886045816 0.00004
NM_001005337.3(PKP1):c.1258C>T (p.Arg420Cys) rs146785756 0.00004
NM_001005337.3(PKP1):c.1401C>T (p.Ala467=) rs569564663 0.00004
NM_001005337.3(PKP1):c.2051G>A (p.Arg684Gln) rs573352897 0.00004
NM_001005337.3(PKP1):c.383G>A (p.Arg128Gln) rs775588543 0.00004
NM_001005337.3(PKP1):c.996C>T (p.Arg332=) rs147633517 0.00004
NM_001006657.2(WDR35):c.1204G>A (p.Glu402Lys) rs553534590 0.00004
NM_001082486.2(ACD):c.399_400insAAG (p.Leu133_Arg134insLys) rs781239912 0.00004
NM_001082486.2(ACD):c.741G>C (p.Gln247His) rs776468683 0.00004
NM_001082486.2(ACD):c.944C>A (p.Pro315His) rs147306863 0.00004
NM_001099274.3(TINF2):c.30A>G (p.Ala10=) rs779819186 0.00004
NM_001099274.3(TINF2):c.500C>T (p.Ala167Val) rs562843857 0.00004
NM_001099274.3(TINF2):c.507+5C>T rs761308889 0.00004
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822 0.00004
NM_001102564.3(IFT43):c.104A>G (p.Asn35Ser) rs144327903 0.00004
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met) rs759241440 0.00004
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) rs727505123 0.00004
NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln) rs771412904 0.00004
NM_001143992.2(WRAP53):c.1325C>T (p.Thr442Met) rs188668951 0.00004
NM_001143992.2(WRAP53):c.330C>T (p.Asn110=) rs150180394 0.00004
NM_001143992.2(WRAP53):c.893G>A (p.Arg298Gln) rs560038082 0.00004
NM_001143992.2(WRAP53):c.976G>A (p.Gly326Ser) rs758704444 0.00004
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg) rs777466386 0.00004
NM_001283009.2(RTEL1):c.1004C>G (p.Pro335Arg) rs750272281 0.00004
NM_001283009.2(RTEL1):c.1012G>A (p.Asp338Asn) rs116495318 0.00004
NM_001283009.2(RTEL1):c.1178C>T (p.Ala393Val) rs200555432 0.00004
NM_001283009.2(RTEL1):c.1594C>T (p.Arg532Trp) rs779050514 0.00004
NM_001283009.2(RTEL1):c.1596-8G>A rs374702981 0.00004
NM_001283009.2(RTEL1):c.1729G>A (p.Asp577Asn) rs371161995 0.00004
NM_001283009.2(RTEL1):c.1800+4G>A rs370973086 0.00004
NM_001283009.2(RTEL1):c.1848C>T (p.Gly616=) rs141436916 0.00004
NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys) rs773265745 0.00004
NM_001283009.2(RTEL1):c.2085C>T (p.Ile695=) rs774642602 0.00004
NM_001283009.2(RTEL1):c.2191C>T (p.His731Tyr) rs149063501 0.00004
NM_001283009.2(RTEL1):c.220G>A (p.Glu74Lys) rs140042227 0.00004
NM_001283009.2(RTEL1):c.2273C>T (p.Ala758Val) rs745535053 0.00004
NM_001283009.2(RTEL1):c.2279C>T (p.Ala760Val) rs761666401 0.00004
NM_001283009.2(RTEL1):c.2284C>T (p.Arg762Trp) rs750251447 0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00004
NM_001283009.2(RTEL1):c.246G>A (p.Pro82=) rs775247678 0.00004
NM_001283009.2(RTEL1):c.2509G>A (p.Ala837Thr) rs753435220 0.00004
NM_001283009.2(RTEL1):c.2579C>T (p.Ser860Phe) rs772872062 0.00004
NM_001283009.2(RTEL1):c.259T>A (p.Ser87Thr) rs543685758 0.00004
NM_001283009.2(RTEL1):c.2624G>A (p.Arg875Lys) rs200565373 0.00004
NM_001283009.2(RTEL1):c.2761G>C (p.Asp921His) rs765668627 0.00004
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met) rs201560152 0.00004
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=) rs766455566 0.00004
NM_001283009.2(RTEL1):c.3362G>A (p.Arg1121His) rs765060195 0.00004
NM_001283009.2(RTEL1):c.3392C>T (p.Thr1131Met) rs372852392 0.00004
NM_001283009.2(RTEL1):c.3409G>A (p.Gly1137Ser) rs202193792 0.00004
NM_001283009.2(RTEL1):c.3437C>T (p.Pro1146Leu) rs749331637 0.00004
NM_001283009.2(RTEL1):c.3479C>T (p.Thr1160Ile) rs754781364 0.00004
NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=) rs774018403 0.00004
NM_001283009.2(RTEL1):c.3584C>T (p.Ala1195Val) rs778286683 0.00004
NM_001283009.2(RTEL1):c.380G>A (p.Arg127Gln) rs769163032 0.00004
NM_001283009.2(RTEL1):c.3876G>A (p.Met1292Ile) rs199760510 0.00004
NM_001283009.2(RTEL1):c.638G>A (p.Arg213Gln) rs770742969 0.00004
NM_001283009.2(RTEL1):c.666A>G (p.Ile222Met) rs373656372 0.00004
NM_001283009.2(RTEL1):c.763G>A (p.Val255Met) rs778675789 0.00004
NM_001283009.2(RTEL1):c.902C>T (p.Ala301Val) rs373849709 0.00004
NM_001283009.2(RTEL1):c.988G>A (p.Asp330Asn) rs753838163 0.00004
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val) rs782631659 0.00004
NM_001363.5(DKC1):c.55C>T (p.Arg19Trp) rs782010351 0.00004
NM_001363.5(DKC1):c.84C>T (p.Ala28=) rs142474971 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 0.00004
NM_001793.6(CDH3):c.-11T>C rs370893872 0.00004
NM_001793.6(CDH3):c.1011G>C (p.Val337=) rs201726457 0.00004
NM_001793.6(CDH3):c.1221C>T (p.Tyr407=) rs368241091 0.00004
NM_001793.6(CDH3):c.1808T>C (p.Val603Ala) rs367858076 0.00004
NM_001793.6(CDH3):c.2362G>A (p.Asp788Asn) rs377354522 0.00004
NM_001793.6(CDH3):c.654C>T (p.Asp218=) rs763136509 0.00004
NM_001793.6(CDH3):c.867+6T>C rs753122508 0.00004
NM_001814.6(CTSC):c.*381A>G rs939550734 0.00004
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) rs575727793 0.00004
NM_001854.4(COL11A1):c.2241+6T>C rs374197371 0.00004
NM_002582.4(PARN):c.1330C>T (p.Arg444Cys) rs765981944 0.00004
NM_002582.4(PARN):c.19A>C (p.Asn7His) rs1371498176 0.00004
NM_002582.4(PARN):c.383G>A (p.Arg128Gln) rs778795386 0.00004
NM_002582.4(PARN):c.448C>T (p.Arg150Cys) rs777558836 0.00004
NM_002582.4(PARN):c.482A>G (p.Tyr161Cys) rs201990148 0.00004
NM_002582.4(PARN):c.530A>G (p.Gln177Arg) rs772994032 0.00004
NM_002582.4(PARN):c.619G>A (p.Gly207Arg) rs373203553 0.00004
NM_002582.4(PARN):c.692A>G (p.Glu231Gly) rs757910862 0.00004
NM_002582.4(PARN):c.840G>A (p.Ser280=) rs200026431 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002855.5(NECTIN1):c.*1129A>T rs140371623 0.00004
NM_002855.5(NECTIN1):c.*1266C>T rs1305206364 0.00004
NM_002855.5(NECTIN1):c.*1666C>T rs187027061 0.00004
NM_002855.5(NECTIN1):c.*2397A>C rs964715355 0.00004
NM_002855.5(NECTIN1):c.*2398G>T rs1018126118 0.00004
NM_002855.5(NECTIN1):c.*3488C>T rs139964288 0.00004
NM_002855.5(NECTIN1):c.900C>G (p.Leu300=) rs1294282077 0.00004
NM_003823.4(TNFRSF6B):c.859G>A (p.Gly287Arg) rs917853575 0.00004
NM_004004.6(GJB2):c.*1040A>G rs1370756376 0.00004
NM_004004.6(GJB2):c.*236A>T rs922232025 0.00004
NM_004004.6(GJB2):c.*308G>A rs886090162 0.00004
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633 0.00004
NM_004278.4(PIGL):c.*324A>G rs886052645 0.00004
NM_004278.4(PIGL):c.263G>A (p.Arg88His) rs755380500 0.00004
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro) rs923739321 0.00004
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile) rs1008080053 0.00004
NM_004360.5(CDH1):c.1501G>A (p.Val501Met) rs368690400 0.00004
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln) rs587781311 0.00004
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu) rs587781312 0.00004
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu) rs746703615 0.00004
NM_004415.4(DSP):c.1222A>C (p.Asn408His) rs142129767 0.00004
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg) rs746802503 0.00004
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.2308G>A (p.Val770Ile) rs1225927424 0.00004
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn) rs765645957 0.00004
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg) rs746482538 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln) rs748109826 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val) rs201785897 0.00004
NM_004415.4(DSP):c.4819G>A (p.Glu1607Lys) rs750054075 0.00004
NM_004415.4(DSP):c.4996C>T (p.Arg1666Trp) rs758312365 0.00004
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891 0.00004
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp) rs200336897 0.00004
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) rs780224658 0.00004
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val) rs749124581 0.00004
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu) rs397516947 0.00004
NM_004415.4(DSP):c.5795G>A (p.Arg1932His) rs770522444 0.00004
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His) rs767259019 0.00004
NM_004415.4(DSP):c.596G>A (p.Arg199Lys) rs143648545 0.00004
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) rs144539278 0.00004
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe) rs549451471 0.00004
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr) rs371129517 0.00004
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile) rs1478775642 0.00004
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr) rs764994940 0.00004
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) rs537588390 0.00004
NM_004415.4(DSP):c.8209G>C (p.Val2737Leu) rs149123428 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu) rs764514210 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004990.4(MARS1):c.2569C>T (p.Arg857Ter) rs768234938 0.00004
NM_014112.5(TRPS1):c.1607A>G (p.Tyr536Cys) rs749022707 0.00004
NM_014112.5(TRPS1):c.3724A>C (p.Met1242Leu) rs374209544 0.00004
NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly) rs587784380 0.00004
NM_015559.3(SETBP1):c.1503C>T (p.Pro501=) rs374300895 0.00004
NM_016004.5(IFT52):c.1189C>T (p.Pro397Ser) rs764053825 0.00004
NM_016580.4(PCDH12):c.1060G>A (p.Val354Ile) rs763363704 0.00004
NM_017838.4(NHP2):c.335C>T (p.Thr112Met) rs768262654 0.00004
NM_017838.4(NHP2):c.441G>T (p.Gln147His) rs757655789 0.00004
NM_018648.4(NOP10):c.-57C>T rs775092898 0.00004
NM_018648.4(NOP10):c.51G>C (p.Leu17=) rs761222362 0.00004
NM_020639.3(RIPK4):c.*823A>G rs182698444 0.00004
NM_020639.3(RIPK4):c.1137C>T (p.Ser379=) rs200420912 0.00004
NM_020639.3(RIPK4):c.1164G>A (p.Ser388=) rs535635195 0.00004
NM_020639.3(RIPK4):c.1511A>G (p.Gln504Arg) rs372327761 0.00004
NM_020779.4(WDR35):c.*1219G>A rs1003005484 0.00004
NM_020779.4(WDR35):c.*2989C>T rs886055392 0.00004
NM_020779.4(WDR35):c.*3269G>A rs886055391 0.00004
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) rs536150588 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_020779.4(WDR35):c.1529G>A (p.Arg510His) rs763031783 0.00004
NM_020779.4(WDR35):c.1637G>A (p.Arg546His) rs529313875 0.00004
NM_020779.4(WDR35):c.1697C>T (p.Thr566Met) rs780159239 0.00004
NM_020779.4(WDR35):c.2278A>G (p.Ile760Val) rs370956261 0.00004
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly) rs1281384371 0.00004
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His) rs200760434 0.00004
NM_020779.4(WDR35):c.3307A>T (p.Thr1103Ser) rs774898515 0.00004
NM_020779.4(WDR35):c.551A>G (p.Asp184Gly) rs370873468 0.00004
NM_020779.4(WDR35):c.742G>A (p.Val248Ile) rs372968757 0.00004
NM_020779.4(WDR35):c.798C>T (p.Ser266=) rs141118263 0.00004
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile) rs573430534 0.00004
NM_022336.4(EDAR):c.*191C>T rs780909525 0.00004
NM_022336.4(EDAR):c.*639T>G rs750539909 0.00004
NM_022336.4(EDAR):c.-226T>C rs886054748 0.00004
NM_022336.4(EDAR):c.208G>A (p.Gly70Ser) rs759735008 0.00004
NM_022336.4(EDAR):c.991G>A (p.Asp331Asn) rs374079078 0.00004
NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly) rs1199130382 0.00004
NM_024589.3(ROGDI):c.389G>A (p.Arg130Gln) rs374603311 0.00004
NM_024589.3(ROGDI):c.555G>C (p.Pro185=) rs771793763 0.00004
NM_024589.3(ROGDI):c.697G>A (p.Glu233Lys) rs370388318 0.00004
NM_024589.3(ROGDI):c.811C>T (p.Leu271Phe) rs766106593 0.00004
NM_024589.3(ROGDI):c.836C>G (p.Ser279Cys) rs765616394 0.00004
NM_025099.6(CTC1):c.*1495G>A rs886053600 0.00004
NM_025099.6(CTC1):c.*1964G>A rs1167690919 0.00004
NM_025099.6(CTC1):c.*2007A>G rs886053591 0.00004
NM_025099.6(CTC1):c.*218T>G rs886053607 0.00004
NM_025099.6(CTC1):c.1028A>G (p.Lys343Arg) rs746477108 0.00004
NM_025099.6(CTC1):c.1043G>A (p.Ser348Asn) rs372396041 0.00004
NM_025099.6(CTC1):c.139A>G (p.Lys47Glu) rs544760936 0.00004
NM_025099.6(CTC1):c.1542A>G (p.Leu514=) rs369802087 0.00004
NM_025099.6(CTC1):c.1682G>A (p.Arg561His) rs373690929 0.00004
NM_025099.6(CTC1):c.1727C>T (p.Pro576Leu) rs755218326 0.00004
NM_025099.6(CTC1):c.1936C>T (p.Arg646Trp) rs780151711 0.00004
NM_025099.6(CTC1):c.1990G>A (p.Asp664Asn) rs747911941 0.00004
NM_025099.6(CTC1):c.202G>A (p.Val68Ile) rs1060499949 0.00004
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala) rs370354906 0.00004
NM_025099.6(CTC1):c.2653G>A (p.Asp885Asn) rs370102181 0.00004
NM_025099.6(CTC1):c.3176G>T (p.Gly1059Val) rs957741030 0.00004
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile) rs377491661 0.00004
NM_025099.6(CTC1):c.547G>T (p.Asp183Tyr) rs751596403 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr) rs768082694 0.00004
NM_025132.4(WDR19):c.2577G>A (p.Ala859=) rs753596825 0.00004
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His) rs781620821 0.00004
NM_025132.4(WDR19):c.3474A>G (p.Ile1158Met) rs760312911 0.00004
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn) rs750250561 0.00004
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp) rs754690461 0.00004
NM_025132.4(WDR19):c.427A>T (p.Thr143Ser) rs1300821144 0.00004
NM_025216.3(WNT10A):c.1134C>T (p.Gly378=) rs886055644 0.00004
NM_025216.3(WNT10A):c.349C>T (p.Pro117Ser) rs144212422 0.00004
NM_025216.3(WNT10A):c.437C>G (p.Ser146Cys) rs759718991 0.00004
NM_025216.3(WNT10A):c.498C>T (p.Asp166=) rs143463683 0.00004
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.743C>T (p.Ser248Leu) rs761669626 0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_052985.3(IFT122):c.-145T>A rs923805618 0.00004
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn) rs76007598 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.2720C>T (p.Ala907Val) rs377690924 0.00004
NM_052989.3(IFT122):c.273-260T>C rs369997431 0.00004
NM_052989.3(IFT122):c.273-346C>T rs778846137 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3073C>G (p.Leu1025Val) rs778888913 0.00004
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu) rs368574590 0.00004
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu) rs557159295 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_052989.3(IFT122):c.524C>T (p.Ser175Phe) rs777645844 0.00004
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser) rs754782458 0.00004
NM_052989.3(IFT122):c.849C>T (p.Pro283=) rs771115196 0.00004
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys) rs782088056 0.00004
NM_145861.4(EDARADD):c.*1149G>A rs886046194 0.00004
NM_145861.4(EDARADD):c.*1303T>G rs780044781 0.00004
NM_145861.4(EDARADD):c.*1738A>G rs878897423 0.00004
NM_147127.5(EVC2):c.1122G>A (p.Gly374=) rs780172151 0.00004
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839 0.00004
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235 0.00004
NM_147127.5(EVC2):c.2706+13T>C rs200000369 0.00004
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln) rs573448772 0.00004
NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu) rs145071652 0.00004
NM_147127.5(EVC2):c.707T>C (p.Val236Ala) rs764307512 0.00004
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu) rs370838180 0.00004
NM_147127.5(EVC2):c.986A>G (p.Asn329Ser) rs368314615 0.00004
NM_153717.3(EVC):c.*104G>A rs753484436 0.00004
NM_153717.3(EVC):c.*254G>A rs557237233 0.00004
NM_153717.3(EVC):c.*2593C>T rs943646882 0.00004
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920 0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00004
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp) rs748220728 0.00004
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.455C>T (p.Pro152Leu) rs371671127 0.00004
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) rs201780665 0.00004
NM_198253.3(TERT):c.*230T>C rs751808151 0.00004
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser) rs551522837 0.00004
NM_198253.3(TERT):c.1760T>C (p.Ile587Thr) rs148882731 0.00004
NM_198253.3(TERT):c.1949G>A (p.Arg650Lys) rs190125817 0.00004
NM_198253.3(TERT):c.2009C>T (p.Ala670Val) rs767382450 0.00004
NM_198253.3(TERT):c.2188G>A (p.Ala730Thr) rs761116773 0.00004
NM_198253.3(TERT):c.2255A>G (p.His752Arg) rs375699185 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.2368G>A (p.Val790Ile) rs371413388 0.00004
NM_198253.3(TERT):c.2469-9C>T rs764029536 0.00004
NM_198253.3(TERT):c.2576G>A (p.Arg859Gln) rs755183437 0.00004
NM_198253.3(TERT):c.2580C>T (p.Asp860=) rs751752830 0.00004
NM_198253.3(TERT):c.2750C>T (p.Thr917Met) rs779102560 0.00004
NM_198253.3(TERT):c.3032+6C>T rs1405075700 0.00004
NM_198253.3(TERT):c.3089C>G (p.Thr1030Arg) rs377419542 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) rs376255453 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_198253.3(TERT):c.553C>T (p.Arg185Trp) rs770436206 0.00004
NR_003051.4(RMRP):n.172G>A rs995230090 0.00004
NR_003051.4(RMRP):n.196dup rs796065036 0.00004
NC_000003.12:g.169764862G>A rs760168757 0.00003
NC_000009.12:g.35658039T>G rs563106486 0.00003
NC_000009.12:g.35658044T>C rs1479868789 0.00003
NC_000016.10:g.67660300A>C rs753367228 0.00003
NC_000020.11:g.63698638G>A rs1375849919 0.00003
NM_000122.2(ERCC3):c.1348A>G (p.Met450Val) rs200291162 0.00003
NM_000165.5(GJA1):c.*1143T>G rs765423162 0.00003
NM_000165.5(GJA1):c.365A>G (p.Asn122Ser) rs769704488 0.00003
NM_001005337.3(PKP1):c.*1498A>G rs886045822 0.00003
NM_001005337.3(PKP1):c.*56C>A rs886045812 0.00003
NM_001005337.3(PKP1):c.136A>T (p.Met46Leu) rs369806569 0.00003
NM_001005337.3(PKP1):c.2015G>A (p.Arg672Gln) rs139909774 0.00003
NM_001006657.2(WDR35):c.1206G>T (p.Glu402Asp) rs762190195 0.00003
NM_001082486.2(ACD):c.1077G>C (p.Gln359His) rs200526158 0.00003
NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu) rs781117606 0.00003
NM_001082486.2(ACD):c.602C>T (p.Ala201Val) rs777707916 0.00003
NM_001082486.2(ACD):c.607C>T (p.Pro203Ser) rs758700674 0.00003
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser) rs1300291520 0.00003
NM_001099274.3(TINF2):c.1221+1G>C rs374008344 0.00003
NM_001099274.3(TINF2):c.1221+3G>C rs762455414 0.00003
NM_001099274.3(TINF2):c.278T>C (p.Ile93Thr) rs762140055 0.00003
NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser) rs746625511 0.00003
NM_001099274.3(TINF2):c.640C>T (p.Pro214Ser) rs372610524 0.00003
NM_001102564.3(IFT43):c.365C>T (p.Pro122Leu) rs202182087 0.00003
NM_001110219.3(GJB6):c.-122T>C rs886050031 0.00003
NM_001110219.3(GJB6):c.228del (p.Trp77fs) rs751484173 0.00003
NM_001142730.3(KCTD1):c.2384C>T (p.Ser795Leu) rs370694764 0.00003
NM_001143992.2(WRAP53):c.1132G>A (p.Asp378Asn) rs552807362 0.00003
NM_001143992.2(WRAP53):c.1268C>T (p.Pro423Leu) rs762178428 0.00003
NM_001143992.2(WRAP53):c.1619C>A (p.Thr540Lys) rs375718073 0.00003
NM_001143992.2(WRAP53):c.305C>T (p.Thr102Ile) rs759428765 0.00003
NM_001143992.2(WRAP53):c.560A>C (p.Asn187Thr) rs35762939 0.00003
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) rs377449787 0.00003
NM_001283009.2(RTEL1):c.103-13G>A rs183862736 0.00003
NM_001283009.2(RTEL1):c.1225C>G (p.Pro409Ala) rs371603433 0.00003
NM_001283009.2(RTEL1):c.1294C>T (p.Arg432Trp) rs748434559 0.00003
NM_001283009.2(RTEL1):c.1452G>A (p.Pro484=) rs201307924 0.00003
NM_001283009.2(RTEL1):c.1871G>A (p.Arg624Gln) rs753779060 0.00003
NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp) rs764349649 0.00003
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.2547C>T (p.Gly849=) rs371353556 0.00003
NM_001283009.2(RTEL1):c.2561A>C (p.His854Pro) rs747542418 0.00003
NM_001283009.2(RTEL1):c.2692C>T (p.Leu898Phe) rs555482478 0.00003
NM_001283009.2(RTEL1):c.2782T>G (p.Phe928Val) rs953069213 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.3020C>G (p.Thr1007Ser) rs776712596 0.00003
NM_001283009.2(RTEL1):c.3063C>A (p.His1021Gln) rs761907604 0.00003
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser) rs550764571 0.00003
NM_001283009.2(RTEL1):c.3503C>T (p.Pro1168Leu) rs376829126 0.00003
NM_001283009.2(RTEL1):c.3521C>T (p.Thr1174Ile) rs201992738 0.00003
NM_001283009.2(RTEL1):c.3704G>A (p.Gly1235Asp) rs942254441 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001283009.2(RTEL1):c.490C>T (p.Arg164Cys) rs752046445 0.00003
NM_001283009.2(RTEL1):c.600C>A (p.Ser200Arg) rs771785679 0.00003
NM_001283009.2(RTEL1):c.709G>A (p.Ala237Thr) rs1023502136 0.00003
NM_001283009.2(RTEL1):c.771G>C (p.Lys257Asn) rs1036504358 0.00003
NM_001283009.2(RTEL1):c.785C>T (p.Ser262Leu) rs772044888 0.00003
NM_001283009.2(RTEL1):c.901G>A (p.Ala301Thr) rs201365106 0.00003
NM_001321396.3(IKBKG):c.-16+3G>A rs782367664 0.00003
NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn) rs782598355 0.00003
NM_001363.5(DKC1):c.487A>G (p.Ile163Val) rs782159247 0.00003
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) rs749039663 0.00003
NM_001793.6(CDH3):c.2484C>T (p.Asp828=) rs202210726 0.00003
NM_001854.4(COL11A1):c.3817-10C>A rs776718424 0.00003
NM_002582.4(PARN):c.1637A>G (p.Tyr546Cys) rs752082579 0.00003
NM_002582.4(PARN):c.1691T>C (p.Val564Ala) rs200433771 0.00003
NM_002582.4(PARN):c.581G>A (p.Ser194Asn) rs374622245 0.00003
NM_002855.5(NECTIN1):c.431-5C>T rs559278757 0.00003
NM_002855.5(NECTIN1):c.682G>A (p.Val228Ile) rs200513188 0.00003
NM_003722.5(TP63):c.1352C>G (p.Thr451Ser) rs747305746 0.00003
NM_003722.5(TP63):c.1697C>T (p.Thr566Met) rs745687224 0.00003
NM_003722.5(TP63):c.1807G>C (p.Asp603His) rs767906723 0.00003
NM_003722.5(TP63):c.50C>G (p.Pro17Arg) rs1408730457 0.00003
NM_003823.4(TNFRSF6B):c.175C>T (p.Gln59Ter) rs747918186 0.00003
NM_003823.4(TNFRSF6B):c.773G>A (p.Arg258His) rs767090761 0.00003
NM_003823.4(TNFRSF6B):c.841C>T (p.Arg281Cys) rs768195916 0.00003
NM_003823.4(TNFRSF6B):c.878G>A (p.Arg293His) rs575430880 0.00003
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly) rs201839979 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004278.4(PIGL):c.426+14T>C rs138467285 0.00003
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val) rs555976452 0.00003
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys) rs769076258 0.00003
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578 0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala) rs755492444 0.00003
NM_004415.4(DSP):c.1630A>C (p.Met544Leu) rs201960323 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.2038G>A (p.Glu680Lys) rs1186943530 0.00003
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys) rs775181391 0.00003
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly) rs557966264 0.00003
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu) rs727504657 0.00003
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys) rs778636665 0.00003
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu) rs779253041 0.00003
NM_004415.4(DSP):c.256G>C (p.Glu86Gln) rs764993760 0.00003
NM_004415.4(DSP):c.2720G>A (p.Arg907His) rs774665110 0.00003
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys) rs563387839 0.00003
NM_004415.4(DSP):c.3275C>T (p.Ser1092Leu) rs755481878 0.00003
NM_004415.4(DSP):c.344A>G (p.Asn115Ser) rs28763958 0.00003
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln) rs147909031 0.00003
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile) rs778448699 0.00003
NM_004415.4(DSP):c.4019G>A (p.Arg1340His) rs765247380 0.00003
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg) rs747326519 0.00003
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) rs794728122 0.00003
NM_004415.4(DSP):c.484C>T (p.Arg162Cys) rs760711308 0.00003
NM_004415.4(DSP):c.485G>T (p.Arg162Leu) rs397516944 0.00003
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp) rs773113214 0.00003
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr) rs869025394 0.00003
NM_004415.4(DSP):c.55C>A (p.Arg19Ser) rs777340009 0.00003
NM_004415.4(DSP):c.578G>T (p.Gly193Val) rs750350474 0.00003
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) rs140663822 0.00003
NM_004415.4(DSP):c.5899G>A (p.Val1967Met) rs397516949 0.00003
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly) rs760673242 0.00003
NM_004415.4(DSP):c.607G>A (p.Asp203Asn) rs374100807 0.00003
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly) rs374090050 0.00003
NM_004415.4(DSP):c.6248G>A (p.Arg2083His) rs574637009 0.00003
NM_004415.4(DSP):c.6368G>A (p.Arg2123His) rs142272846 0.00003
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala) rs886061748 0.00003
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val) rs768837509 0.00003
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val) rs774087560 0.00003
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg) rs376923069 0.00003
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe) rs397516958 0.00003
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser) rs397516959 0.00003
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp) rs771553674 0.00003
NM_004415.4(DSP):c.8030A>G (p.Gln2677Arg) rs749806703 0.00003
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987 0.00003
NM_004415.4(DSP):c.860A>G (p.Asn287Ser) rs138872423 0.00003
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575 0.00003
NM_014112.5(TRPS1):c.*2752_*2754del rs886062612 0.00003
NM_014112.5(TRPS1):c.1526C>T (p.Thr509Ile) rs774172927 0.00003
NM_014112.5(TRPS1):c.890G>A (p.Arg297His) rs376460318 0.00003
NM_017838.4(NHP2):c.109C>T (p.Pro37Ser) rs201390429 0.00003
NM_017838.4(NHP2):c.388_395dup (p.His132fs) rs755460344 0.00003
NM_018648.4(NOP10):c.*132T>G rs995405881 0.00003
NM_020529.3(NFKBIA):c.228-3C>T rs374251732 0.00003
NM_020529.3(NFKBIA):c.337-3T>C rs756930611 0.00003
NM_020529.3(NFKBIA):c.379G>A (p.Ala127Thr) rs377380656 0.00003
NM_020529.3(NFKBIA):c.547+10C>T rs201614038 0.00003
NM_020639.3(RIPK4):c.1561C>T (p.Arg521Trp) rs148559295 0.00003
NM_020779.4(WDR35):c.*1038C>G rs145549829 0.00003
NM_020779.4(WDR35):c.*1218C>T rs990547735 0.00003
NM_020779.4(WDR35):c.*1821A>G rs978221263 0.00003
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) rs573958749 0.00003
NM_020779.4(WDR35):c.142+5A>G rs762617889 0.00003
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys) rs549077153 0.00003
NM_020779.4(WDR35):c.197C>T (p.Thr66Ile) rs143397737 0.00003
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys) rs781365658 0.00003
NM_020779.4(WDR35):c.2446C>T (p.Arg816Trp) rs374027943 0.00003
NM_020779.4(WDR35):c.2864G>A (p.Arg955His) rs780666056 0.00003
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val) rs376284452 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_020779.4(WDR35):c.628A>G (p.Ile210Val) rs1413290520 0.00003
NM_020779.4(WDR35):c.766G>A (p.Val256Ile) rs745580829 0.00003
NM_022336.4(EDAR):c.1156G>A (p.Asp386Asn) rs149835516 0.00003
NM_022336.4(EDAR):c.674C>T (p.Pro225Leu) rs376622302 0.00003
NM_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala) rs367553852 0.00003
NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met) rs375759945 0.00003
NM_022836.4(DCLRE1B):c.1360G>A (p.Gly454Arg) rs770223898 0.00003
NM_022836.4(DCLRE1B):c.1519A>T (p.Thr507Ser) rs757797519 0.00003
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met) rs749431578 0.00003
NM_024589.3(ROGDI):c.388C>T (p.Arg130Trp) rs758414235 0.00003
NM_024589.3(ROGDI):c.418G>A (p.Ala140Thr) rs146815588 0.00003
NM_024589.3(ROGDI):c.49G>A (p.Glu17Lys) rs745342114 0.00003
NM_024589.3(ROGDI):c.4G>A (p.Ala2Thr) rs1022157711 0.00003
NM_024589.3(ROGDI):c.559G>A (p.Asp187Asn) rs773589345 0.00003
NM_024589.3(ROGDI):c.572A>C (p.Asn191Thr) rs965246266 0.00003
NM_024589.3(ROGDI):c.578A>C (p.Tyr193Ser) rs80033521 0.00003
NM_024589.3(ROGDI):c.620A>G (p.His207Arg) rs994876248 0.00003
NM_024589.3(ROGDI):c.667G>T (p.Ala223Ser) rs756917973 0.00003
NM_025099.6(CTC1):c.*1286A>G rs886053601 0.00003
NM_025099.6(CTC1):c.*1438C>G rs141383858 0.00003
NM_025099.6(CTC1):c.*1852G>A rs559541027 0.00003
NM_025099.6(CTC1):c.*445A>T rs977398110 0.00003
NM_025099.6(CTC1):c.1045C>T (p.Leu349Phe) rs745499039 0.00003
NM_025099.6(CTC1):c.1108G>A (p.Ala370Thr) rs771759195 0.00003
NM_025099.6(CTC1):c.1177C>T (p.Arg393Trp) rs767962215 0.00003
NM_025099.6(CTC1):c.1178G>A (p.Arg393Gln) rs755414520 0.00003
NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp) rs375293707 0.00003
NM_025099.6(CTC1):c.1265C>T (p.Ala422Val) rs532962550 0.00003
NM_025099.6(CTC1):c.1276C>T (p.Arg426Cys) rs367898339 0.00003
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile) rs201560353 0.00003
NM_025099.6(CTC1):c.2012C>G (p.Ser671Cys) rs764799661 0.00003
NM_025099.6(CTC1):c.2036G>A (p.Gly679Asp) rs201006130 0.00003
NM_025099.6(CTC1):c.2191C>T (p.Arg731Trp) rs781720954 0.00003
NM_025099.6(CTC1):c.2266G>A (p.Val756Met) rs200779057 0.00003
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln) rs772328631 0.00003
NM_025099.6(CTC1):c.2497G>C (p.Asp833His) rs754510180 0.00003
NM_025099.6(CTC1):c.268A>G (p.Ser90Gly) rs371308970 0.00003
NM_025099.6(CTC1):c.2770G>A (p.Ala924Thr) rs376358881 0.00003
NM_025099.6(CTC1):c.2942A>G (p.Asn981Ser) rs375371933 0.00003
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=) rs760547081 0.00003
NM_025132.4(WDR19):c.*131C>T rs886059404 0.00003
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg) rs773773910 0.00003
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr) rs752803760 0.00003
NM_025132.4(WDR19):c.1430G>A (p.Arg477His) rs371117988 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.2320A>G (p.Ile774Val) rs762043395 0.00003
NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys) rs770091572 0.00003
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr) rs1057523257 0.00003
NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser) rs763190830 0.00003
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=) rs769329045 0.00003
NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe) rs199625785 0.00003
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met) rs529745222 0.00003
NM_025132.4(WDR19):c.3874T>C (p.Cys1292Arg) rs766752510 0.00003
NM_025132.4(WDR19):c.523-3T>C rs747603843 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_025216.3(WNT10A):c.*115C>T rs886055646 0.00003
NM_025216.3(WNT10A):c.914G>A (p.Arg305His) rs746769946 0.00003
NM_030662.4(MAP2K2):c.1190G>A (p.Arg397His) rs751040819 0.00003
NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys) rs187018595 0.00003
NM_030662.4(MAP2K2):c.884C>T (p.Ser295Leu) rs531584619 0.00003
NM_052989.3(IFT122):c.*16C>T rs763993447 0.00003
NM_052989.3(IFT122):c.1207A>C (p.Ile403Leu) rs149915993 0.00003
NM_052989.3(IFT122):c.1795G>A (p.Gly599Ser) rs758194778 0.00003
NM_052989.3(IFT122):c.2389G>A (p.Ala797Thr) rs376362722 0.00003
NM_052989.3(IFT122):c.2840G>A (p.Arg947His) rs760810819 0.00003
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His) rs143602964 0.00003
NM_052989.3(IFT122):c.3554G>A (p.Arg1185Gln) rs754808589 0.00003
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu) rs751262275 0.00003
NM_052989.3(IFT122):c.3697C>T (p.Arg1233Cys) rs778449955 0.00003
NM_145861.4(EDARADD):c.*2008G>A rs184215335 0.00003
NM_147127.5(EVC2):c.1111G>A (p.Glu371Lys) rs929810328 0.00003
NM_147127.5(EVC2):c.221G>A (p.Ser74Asn) rs1191013607 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val) rs376048508 0.00003
NM_147127.5(EVC2):c.2551A>G (p.Met851Val) rs373004013 0.00003
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn) rs746187559 0.00003
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg) rs748417016 0.00003
NM_147127.5(EVC2):c.3757G>A (p.Ala1253Thr) rs745540572 0.00003
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala) rs142952894 0.00003
NM_153717.3(EVC):c.*1071G>C rs1397822380 0.00003
NM_153717.3(EVC):c.*1981A>G rs886059516 0.00003
NM_153717.3(EVC):c.*542C>T rs1168888994 0.00003
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088 0.00003
NM_153717.3(EVC):c.1574T>G (p.Phe525Cys) rs771560788 0.00003
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.461A>G (p.Glu154Gly) rs1386247667 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_198253.3(TERT):c.*104C>T rs886059830 0.00003
NM_198253.3(TERT):c.1099G>T (p.Gly367Cys) rs1751163506 0.00003
NM_198253.3(TERT):c.1142G>C (p.Arg381Pro) rs777343359 0.00003
NM_198253.3(TERT):c.1270G>A (p.Gly424Ser) rs374180689 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.1769+16G>A rs202108457 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_198253.3(TERT):c.1957C>T (p.Arg653Cys) rs372272356 0.00003
NM_198253.3(TERT):c.2012G>A (p.Arg671Gln) rs774381540 0.00003
NM_198253.3(TERT):c.2145C>T (p.Gly715=) rs769467251 0.00003
NM_198253.3(TERT):c.2221G>T (p.Val741Leu) rs150819225 0.00003
NM_198253.3(TERT):c.2354C>G (p.Pro785Arg) rs483352771 0.00003
NM_198253.3(TERT):c.2387C>T (p.Ser796Phe) rs369810792 0.00003
NM_198253.3(TERT):c.2422G>A (p.Val808Ile) rs200119385 0.00003
NM_198253.3(TERT):c.2449G>A (p.Ala817Thr) rs778051907 0.00003
NM_198253.3(TERT):c.3033-13G>A rs746630679 0.00003
NM_198253.3(TERT):c.3110C>G (p.Ser1037Cys) rs1060503001 0.00003
NM_198253.3(TERT):c.3116C>T (p.Thr1039Met) rs763381198 0.00003
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=) rs759883263 0.00003
NM_198253.3(TERT):c.536G>T (p.Gly179Val) rs771590775 0.00003
NM_198253.3(TERT):c.611A>T (p.Asn204Ile) rs764473257 0.00003
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_198253.3(TERT):c.859G>A (p.Gly287Ser) rs746095609 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198253.3(TERT):c.968C>G (p.Pro323Arg) rs139342764 0.00003
NM_198253.3(TERT):c.976G>A (p.Ala326Thr) rs1030156757 0.00003
NR_001566.3(TERC):n.37A>G rs199422261 0.00003
NR_003051.4(RMRP):n.140C>T rs746248517 0.00003
NR_003051.4(RMRP):n.146C>T rs759632477 0.00003
NR_003051.4(RMRP):n.187C>T rs1051076135 0.00003
NR_003051.4(RMRP):n.194C>T rs1045976155 0.00003
NR_003051.4(RMRP):n.204C>T rs964504772 0.00003
NR_003051.4(RMRP):n.206C>T rs925085494 0.00003
NR_003051.4(RMRP):n.214G>A rs145720742 0.00003
NC_000003.12:g.169764704A>G rs569827301 0.00002
NC_000003.12:g.169764717G>A rs374793413 0.00002
NC_000003.12:g.169764830G>A rs906136164 0.00002
NC_000003.12:g.169764856G>A rs1192146620 0.00002
NC_000003.12:g.169764986G>A rs771988301 0.00002
NC_000003.12:g.169765037T>C rs766746392 0.00002
NC_000016.10:g.67660436C>T rs752006255 0.00002
NM_000122.2(ERCC3):c.32A>G (p.Lys11Arg) rs199934696 0.00002
NM_000122.2(ERCC3):c.359C>T (p.Ala120Val) rs370115857 0.00002
NM_000165.5(GJA1):c.-197T>G rs1387189062 0.00002
NM_000165.5(GJA1):c.-87C>T rs1263521795 0.00002
NM_000400.4(ERCC2):c.2084G>A (p.Arg695His) rs746618110 0.00002
NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu) rs1213865808 0.00002
NM_000400.4(ERCC2):c.860G>A (p.Arg287His) rs765839639 0.00002
NM_001005337.3(PKP1):c.1237C>A (p.Leu413Met) rs370631788 0.00002
NM_001005337.3(PKP1):c.750T>C (p.Ala250=) rs201749145 0.00002
NM_001005337.3(PKP1):c.945G>A (p.Val315=) rs200097129 0.00002
NM_001082486.2(ACD):c.1004G>A (p.Arg335His) rs774558672 0.00002
NM_001082486.2(ACD):c.1211C>A (p.Pro404His) rs201907421 0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001082486.2(ACD):c.1217A>G (p.Lys406Arg) rs773274371 0.00002
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu) rs150387011 0.00002
NM_001082486.2(ACD):c.545dup (p.Ala184fs) rs1567641214 0.00002
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile) rs1181866888 0.00002
NM_001082486.2(ACD):c.608_609del (p.Pro203fs) rs777476880 0.00002
NM_001082486.2(ACD):c.853A>G (p.Met285Val) rs780951085 0.00002
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu) rs1006777863 0.00002
NM_001099274.3(TINF2):c.1060G>A (p.Glu354Lys) rs992428548 0.00002
NM_001099274.3(TINF2):c.1062-3C>T rs1176026210 0.00002
NM_001099274.3(TINF2):c.1084G>C (p.Asp362His) rs371044766 0.00002
NM_001099274.3(TINF2):c.1222-3C>A rs760553298 0.00002
NM_001099274.3(TINF2):c.1312C>G (p.Pro438Ala) rs1359891417 0.00002
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg) rs1375036989 0.00002
NM_001102564.3(IFT43):c.296-5681A>G rs755977535 0.00002
NM_001102564.3(IFT43):c.398G>A (p.Arg133His) rs755396441 0.00002
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp) rs1483926431 0.00002
NM_001110219.3(GJB6):c.109G>A (p.Val37Met) rs761985641 0.00002
NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg) rs760079142 0.00002
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) rs146231737 0.00002
NM_001110219.3(GJB6):c.666A>G (p.Ser222=) rs138571061 0.00002
NM_001143992.2(WRAP53):c.1352C>T (p.Pro451Leu) rs147407953 0.00002
NM_001143992.2(WRAP53):c.643-4A>G rs770005848 0.00002
NM_001143992.2(WRAP53):c.914C>T (p.Thr305Met) rs375033488 0.00002
NM_001143992.2(WRAP53):c.956-14C>T rs1484627654 0.00002
NM_001283009.2(RTEL1):c.1228G>T (p.Gly410Cys) rs866955014 0.00002
NM_001283009.2(RTEL1):c.1266+3A>G rs889856101 0.00002
NM_001283009.2(RTEL1):c.1267-6C>T rs779075624 0.00002
NM_001283009.2(RTEL1):c.1393C>T (p.His465Tyr) rs142928306 0.00002
NM_001283009.2(RTEL1):c.1477C>G (p.Gln493Glu) rs372871657 0.00002
NM_001283009.2(RTEL1):c.1603G>A (p.Glu535Lys) rs1367858373 0.00002
NM_001283009.2(RTEL1):c.1661A>G (p.Tyr554Cys) rs1046172136 0.00002
NM_001283009.2(RTEL1):c.1723-13C>T rs751640004 0.00002
NM_001283009.2(RTEL1):c.1728C>T (p.Arg576=) rs754225573 0.00002
NM_001283009.2(RTEL1):c.1800+3C>T rs764757029 0.00002
NM_001283009.2(RTEL1):c.1948C>T (p.Pro650Ser) rs768489017 0.00002
NM_001283009.2(RTEL1):c.1951C>T (p.Arg651Cys) rs765231471 0.00002
NM_001283009.2(RTEL1):c.2142-7C>G rs879582201 0.00002
NM_001283009.2(RTEL1):c.2413+5G>A rs750836127 0.00002
NM_001283009.2(RTEL1):c.2414-14G>A rs770111225 0.00002
NM_001283009.2(RTEL1):c.2512C>G (p.Leu838Val) rs996529824 0.00002
NM_001283009.2(RTEL1):c.2530C>T (p.Arg844Trp) rs368297230 0.00002
NM_001283009.2(RTEL1):c.2531G>A (p.Arg844Gln) rs758245234 0.00002
NM_001283009.2(RTEL1):c.2638C>G (p.Leu880Val) rs376204071 0.00002
NM_001283009.2(RTEL1):c.2652G>A (p.Pro884=) rs201784607 0.00002
NM_001283009.2(RTEL1):c.2753C>T (p.Ala918Val) rs1234595238 0.00002
NM_001283009.2(RTEL1):c.3002C>T (p.Ala1001Val) rs150072861 0.00002
NM_001283009.2(RTEL1):c.3089C>T (p.Ser1030Leu) rs756579704 0.00002
NM_001283009.2(RTEL1):c.3202C>T (p.Arg1068Cys) rs762640318 0.00002
NM_001283009.2(RTEL1):c.3438G>A (p.Pro1146=) rs770920450 0.00002
NM_001283009.2(RTEL1):c.350C>T (p.Ser117Leu) rs372278974 0.00002
NM_001283009.2(RTEL1):c.3701C>T (p.Pro1234Leu) rs537878959 0.00002
NM_001283009.2(RTEL1):c.3712C>T (p.Leu1238Phe) rs765763485 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001283009.2(RTEL1):c.3751G>A (p.Asp1251Asn) rs773592856 0.00002
NM_001283009.2(RTEL1):c.765+4A>G rs948594061 0.00002
NM_001283009.2(RTEL1):c.890C>T (p.Pro297Leu) rs748022323 0.00002
NM_001283009.2(RTEL1):c.8A>C (p.Lys3Thr) rs779282812 0.00002
NM_001283009.2(RTEL1):c.940G>A (p.Asp314Asn) rs758615955 0.00002
NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys) rs771452777 0.00002
NM_001323.4(CST6):c.62C>T (p.Ala21Val) rs753288221 0.00002
NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp) rs1557265675 0.00002
NM_001363.5(DKC1):c.1451A>C (p.Glu484Ala) rs781923825 0.00002
NM_001363.5(DKC1):c.64T>G (p.Leu22Val) rs781849751 0.00002
NM_001399.5(EDA):c.157C>T (p.Leu53Phe) rs974684362 0.00002
NM_001399.5(EDA):c.301C>T (p.Pro101Ser) rs182251004 0.00002
NM_001399.5(EDA):c.396+10C>T rs754163471 0.00002
NM_001793.5(CDH3):c.-302C>T rs145687049 0.00002
NM_001793.6(CDH3):c.*2C>T rs777390548 0.00002
NM_001793.6(CDH3):c.*529G>A rs886052235 0.00002
NM_001793.6(CDH3):c.*535G>A rs955104733 0.00002
NM_001793.6(CDH3):c.1571-7C>G rs373529822 0.00002
NM_001793.6(CDH3):c.1652G>A (p.Arg551His) rs779413254 0.00002
NM_001793.6(CDH3):c.166A>G (p.Met56Val) rs886052228 0.00002
NM_001793.6(CDH3):c.691G>C (p.Gly231Arg) rs886052230 0.00002
NM_001793.6(CDH3):c.854G>T (p.Gly285Val) rs753255861 0.00002
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) rs748729285 0.00002
NM_002582.4(PARN):c.1031C>T (p.Ala344Val) rs374213957 0.00002
NM_002582.4(PARN):c.1171A>G (p.Ile391Val) rs765070513 0.00002
NM_002582.4(PARN):c.1250C>G (p.Pro417Arg) rs1451726091 0.00002
NM_002582.4(PARN):c.1458C>G (p.Ser486Arg) rs375177493 0.00002
NM_002582.4(PARN):c.1513C>T (p.Arg505Trp) rs375185166 0.00002
NM_002582.4(PARN):c.1768G>C (p.Glu590Gln) rs975097908 0.00002
NM_002582.4(PARN):c.1842G>A (p.Met614Ile) rs913617123 0.00002
NM_002582.4(PARN):c.271T>A (p.Tyr91Asn) rs764315291 0.00002
NM_002582.4(PARN):c.34C>T (p.Leu12Phe) rs777848795 0.00002
NM_002582.4(PARN):c.458C>T (p.Ala153Val) rs371072064 0.00002
NM_002582.4(PARN):c.55A>G (p.Ile19Val) rs367979521 0.00002
NM_002582.4(PARN):c.665C>T (p.Pro222Leu) rs770353163 0.00002
NM_002582.4(PARN):c.710G>A (p.Arg237Gln) rs376992177 0.00002
NM_002582.4(PARN):c.902A>G (p.Tyr301Cys) rs942688617 0.00002
NM_002755.4(MAP2K1):c.1062A>C (p.Gln354His) rs750035241 0.00002
NM_002755.4(MAP2K1):c.1135A>G (p.Ile379Val) rs373794940 0.00002
NM_002755.4(MAP2K1):c.1177G>A (p.Val393Ile) rs200442489 0.00002
NM_002855.5(NECTIN1):c.*1241T>A rs963747375 0.00002
NM_002855.5(NECTIN1):c.*2355C>T rs1456398872 0.00002
NM_002855.5(NECTIN1):c.*2882G>A rs1200712188 0.00002
NM_002855.5(NECTIN1):c.1422C>T (p.Ala474=) rs763407766 0.00002
NM_003722.5(TP63):c.110G>A (p.Arg37Gln) rs754361670 0.00002
NM_003823.4(TNFRSF6B):c.823C>T (p.Arg275Trp) rs756317669 0.00002
NM_003823.4(TNFRSF6B):c.873C>T (p.Ser291=) rs555469304 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004278.4(PIGL):c.420C>T (p.Ile140=) rs374713933 0.00002
NM_004278.4(PIGL):c.724C>T (p.Arg242Trp) rs377632512 0.00002
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln) rs373364873 0.00002
NM_004360.5(CDH1):c.1946C>T (p.Ser649Phe) rs1238607560 0.00002
NM_004360.5(CDH1):c.2098C>A (p.Pro700Thr) rs878854681 0.00002
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe) rs786202598 0.00002
NM_004360.5(CDH1):c.2558C>T (p.Ser853Leu) rs569928380 0.00002
NM_004360.5(CDH1):c.2590G>A (p.Glu864Lys) rs142927667 0.00002
NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys) rs778019174 0.00002
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr) rs757208743 0.00002
NM_004415.4(DSP):c.104G>C (p.Gly35Ala) rs202194206 0.00002
NM_004415.4(DSP):c.130C>T (p.Arg44Trp) rs1255744065 0.00002
NM_004415.4(DSP):c.1419+5G>C rs1004508873 0.00002
NM_004415.4(DSP):c.1522G>A (p.Val508Met) rs751537483 0.00002
NM_004415.4(DSP):c.1732A>C (p.Lys578Gln) rs761478865 0.00002
NM_004415.4(DSP):c.1744G>A (p.Asp582Asn) rs756671027 0.00002
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp) rs372467697 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_004415.4(DSP):c.2000G>C (p.Trp667Ser) rs760214732 0.00002
NM_004415.4(DSP):c.2027G>A (p.Arg676His) rs777782794 0.00002
NM_004415.4(DSP):c.2046C>T (p.Cys682=) rs771674559 0.00002
NM_004415.4(DSP):c.2234A>G (p.Glu745Gly) rs969462343 0.00002
NM_004415.4(DSP):c.2329A>G (p.Ile777Val) rs755860619 0.00002
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu) rs774638728 0.00002
NM_004415.4(DSP):c.2479A>T (p.Thr827Ser) rs1009521297 0.00002
NM_004415.4(DSP):c.2674C>T (p.Arg892Cys) rs750800025 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.2771T>C (p.Met924Thr) rs752816142 0.00002
NM_004415.4(DSP):c.3766C>T (p.Leu1256Phe) rs775080202 0.00002
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu) rs748733750 0.00002
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln) rs759698959 0.00002
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr) rs763915365 0.00002
NM_004415.4(DSP):c.384G>A (p.Met128Ile) rs930440897 0.00002
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665 0.00002
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp) rs764189408 0.00002
NM_004415.4(DSP):c.3954G>A (p.Lys1318=) rs866656949 0.00002
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser) rs771721410 0.00002
NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser) rs763489227 0.00002
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582 0.00002
NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn) rs768402359 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.449G>A (p.Arg150Gln) rs587782940 0.00002
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val) rs375919492 0.00002
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met) rs375150075 0.00002
NM_004415.4(DSP):c.4610G>A (p.Arg1537His) rs762135558 0.00002
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn) rs730880084 0.00002
NM_004415.4(DSP):c.4670C>T (p.Thr1557Met) rs747582734 0.00002
NM_004415.4(DSP):c.467T>A (p.Ile156Asn) rs767692014 0.00002
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys) rs869025393 0.00002
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro) rs749679496 0.00002
NM_004415.4(DSP):c.4991T>G (p.Leu1664Arg) rs746139953 0.00002
NM_004415.4(DSP):c.5009A>G (p.Gln1670Arg) rs1052973336 0.00002
NM_004415.4(DSP):c.5084G>A (p.Ser1695Asn) rs758637843 0.00002
NM_004415.4(DSP):c.517A>T (p.Thr173Ser) rs1372912970 0.00002
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys) rs750854585 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr) rs764279057 0.00002
NM_004415.4(DSP):c.5726T>C (p.Ile1909Thr) rs752360866 0.00002
NM_004415.4(DSP):c.5932A>G (p.Met1978Val) rs770077556 0.00002
NM_004415.4(DSP):c.5935C>G (p.Gln1979Glu) rs773436512 0.00002
NM_004415.4(DSP):c.6100G>A (p.Ala2034Thr) rs1043978096 0.00002
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly) rs755069593 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp) rs181608152 0.00002
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe) rs1581822548 0.00002
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala) rs730880088 0.00002
NM_004415.4(DSP):c.668G>A (p.Gly223Asp) rs199509943 0.00002
NM_004415.4(DSP):c.7117G>A (p.Ala2373Thr) rs373965771 0.00002
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp) rs777930834 0.00002
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp) rs1209240894 0.00002
NM_004415.4(DSP):c.740C>T (p.Ala247Val) rs544360130 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala) rs746166372 0.00002
NM_004415.4(DSP):c.8044C>G (p.Gln2682Glu) rs772365921 0.00002
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val) rs747284663 0.00002
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp) rs766454930 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.8402G>A (p.Arg2801His) rs763712887 0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_014112.5(TRPS1):c.601C>G (p.Gln201Glu) rs766826774 0.00002
NM_015559.3(SETBP1):c.3832C>G (p.Leu1278Val) rs751429016 0.00002
NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser) rs761385178 0.00002
NM_017838.4(NHP2):c.138G>C (p.Lys46Asn) rs761328868 0.00002
NM_017838.4(NHP2):c.235A>T (p.Met79Leu) rs377700562 0.00002
NM_017838.4(NHP2):c.289_290del (p.Met97fs) rs762821341 0.00002
NM_017838.4(NHP2):c.50C>T (p.Ala17Val) rs1467408923 0.00002
NM_017838.4(NHP2):c.70T>A (p.Tyr24Asn) rs757358075 0.00002
NM_018648.4(NOP10):c.31G>A (p.Gly11Arg) rs370894572 0.00002
NM_020529.3(NFKBIA):c.111G>A (p.Met37Ile) rs764415243 0.00002
NM_020639.3(RIPK4):c.*1447A>C rs1356634807 0.00002
NM_020639.3(RIPK4):c.1195+8G>C rs750525932 0.00002
NM_020639.3(RIPK4):c.1453G>A (p.Gly485Ser) rs376154775 0.00002
NM_020639.3(RIPK4):c.1530T>C (p.Phe510=) rs761959722 0.00002
NM_020639.3(RIPK4):c.1995C>T (p.Ala665=) rs758168721 0.00002
NM_020639.3(RIPK4):c.302C>T (p.Thr101Met) rs778210206 0.00002
NM_020639.3(RIPK4):c.488G>A (p.Gly163Asp) rs764278537 0.00002
NM_020639.3(RIPK4):c.779G>A (p.Arg260His) rs549925444 0.00002
NM_020779.4(WDR35):c.*297A>G rs886891593 0.00002
NM_020779.4(WDR35):c.*305T>C rs1404107870 0.00002
NM_020779.4(WDR35):c.1435A>G (p.Met479Val) rs797046099 0.00002
NM_020779.4(WDR35):c.1798A>G (p.Met600Val) rs751974091 0.00002
NM_020779.4(WDR35):c.1972C>T (p.Arg658Trp) rs754056303 0.00002
NM_020779.4(WDR35):c.2030A>G (p.Gln677Arg) rs771708013 0.00002
NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala) rs886055405 0.00002
NM_020779.4(WDR35):c.2726A>G (p.Tyr909Cys) rs369793891 0.00002
NM_020779.4(WDR35):c.287T>C (p.Ile96Thr) rs1388421523 0.00002
NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn) rs190070503 0.00002
NM_020779.4(WDR35):c.670T>C (p.Cys224Arg) rs757871845 0.00002
NM_020779.4(WDR35):c.764A>G (p.Tyr255Cys) rs1228498799 0.00002
NM_022336.4(EDAR):c.*1435G>A rs1193003358 0.00002
NM_022336.4(EDAR):c.167C>G (p.Pro56Arg) rs770245989 0.00002
NM_022336.4(EDAR):c.187G>A (p.Gly63Ser) rs764223500 0.00002
NM_022336.4(EDAR):c.802A>T (p.Ser268Cys) rs770872155 0.00002
NM_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu) rs527254164 0.00002
NM_022836.4(DCLRE1B):c.1058T>C (p.Val353Ala) rs777529403 0.00002
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu) rs780781288 0.00002
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg) rs745340882 0.00002
NM_022836.4(DCLRE1B):c.178C>G (p.Arg60Gly) rs764770290 0.00002
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter) rs150374247 0.00002
NM_022836.4(DCLRE1B):c.689A>G (p.His230Arg) rs755456896 0.00002
NM_024589.2(ROGDI):c.-74A>C rs886052039 0.00002
NM_024589.3(ROGDI):c.19G>A (p.Ala7Thr) rs1350070250 0.00002
NM_024589.3(ROGDI):c.356A>G (p.His119Arg) rs905717859 0.00002
NM_024589.3(ROGDI):c.553C>T (p.Pro185Ser) rs775198813 0.00002
NM_024589.3(ROGDI):c.646-6C>G rs200792197 0.00002
NM_024589.3(ROGDI):c.724A>G (p.Ser242Gly) rs148274786 0.00002
NM_024589.3(ROGDI):c.785C>G (p.Thr262Ser) rs1373575683 0.00002
NM_024589.3(ROGDI):c.787G>A (p.Val263Ile) rs768480593 0.00002
NM_024589.3(ROGDI):c.829G>A (p.Val277Met) rs759234056 0.00002
NM_025099.6(CTC1):c.*1553C>T rs986375644 0.00002
NM_025099.6(CTC1):c.*2685C>T rs886053588 0.00002
NM_025099.6(CTC1):c.*642A>G rs1282456436 0.00002
NM_025099.6(CTC1):c.1007T>C (p.Met336Thr) rs376721027 0.00002
NM_025099.6(CTC1):c.1147C>T (p.Leu383Phe) rs199532891 0.00002
NM_025099.6(CTC1):c.1166G>A (p.Arg389His) rs758605320 0.00002
NM_025099.6(CTC1):c.1343A>G (p.Tyr448Cys) rs779866795 0.00002
NM_025099.6(CTC1):c.1525C>T (p.Pro509Ser) rs369917627 0.00002
NM_025099.6(CTC1):c.1558C>G (p.Pro520Ala) rs371714831 0.00002
NM_025099.6(CTC1):c.1624C>T (p.Arg542Trp) rs901245332 0.00002
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln) rs776684484 0.00002
NM_025099.6(CTC1):c.196A>G (p.Ser66Gly) rs1366348022 0.00002
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn) rs754090012 0.00002
NM_025099.6(CTC1):c.2441G>A (p.Gly814Glu) rs375914513 0.00002
NM_025099.6(CTC1):c.2557A>G (p.Thr853Ala) rs758218109 0.00002
NM_025099.6(CTC1):c.2785G>A (p.Val929Met) rs778339506 0.00002
NM_025099.6(CTC1):c.3007A>G (p.Ile1003Val) rs758498343 0.00002
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys) rs376349076 0.00002
NM_025099.6(CTC1):c.3170G>A (p.Arg1057His) rs776956576 0.00002
NM_025099.6(CTC1):c.3173T>G (p.Leu1058Arg) rs146536910 0.00002
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser) rs373875495 0.00002
NM_025099.6(CTC1):c.3222G>C (p.Arg1074Ser) rs1393187047 0.00002
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu) rs766537691 0.00002
NM_025099.6(CTC1):c.448G>A (p.Asp150Asn) rs374418436 0.00002
NM_025099.6(CTC1):c.500C>T (p.Pro167Leu) rs1390966539 0.00002
NM_025099.6(CTC1):c.647+4A>G rs751360780 0.00002
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527 0.00002
NM_025099.6(CTC1):c.874C>T (p.Arg292Cys) rs1013688033 0.00002
NM_025099.6(CTC1):c.8C>G (p.Ala3Gly) rs923853643 0.00002
NM_025099.6(CTC1):c.980T>C (p.Leu327Ser) rs902038280 0.00002
NM_025132.4(WDR19):c.*296T>G rs542204770 0.00002
NM_025132.4(WDR19):c.128G>A (p.Arg43His) rs770312522 0.00002
NM_025132.4(WDR19):c.13+14C>T rs758352852 0.00002
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) rs1482640692 0.00002
NM_025132.4(WDR19):c.1904A>G (p.His635Arg) rs763696990 0.00002
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly) rs778896318 0.00002
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys) rs1470166429 0.00002
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys) rs769807270 0.00002
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=) rs761990492 0.00002
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu) rs766029437 0.00002
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg) rs376471437 0.00002
NM_025132.4(WDR19):c.3483+11T>C rs766475725 0.00002
NM_025132.4(WDR19):c.4014G>A (p.Thr1338=) rs763555032 0.00002
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) rs777646123 0.00002
NM_025132.4(WDR19):c.822T>C (p.His274=) rs750215526 0.00002
NM_025216.2(WNT10A):c.-285C>T rs886055636 0.00002
NM_025216.3(WNT10A):c.*15C>T rs886055645 0.00002
NM_025216.3(WNT10A):c.377-11T>C rs369995297 0.00002
NM_025216.3(WNT10A):c.660C>T (p.Phe220=) rs765046353 0.00002
NM_025216.3(WNT10A):c.694C>T (p.Arg232Trp) rs193098360 0.00002
NM_030662.4(MAP2K2):c.1163G>A (p.Arg388Gln) rs749615795 0.00002
NM_030662.4(MAP2K2):c.326C>T (p.Pro109Leu) rs544242665 0.00002
NM_030662.4(MAP2K2):c.491G>T (p.Arg164Met) rs751317148 0.00002
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=) rs767939999 0.00002
NM_030662.4(MAP2K2):c.692G>A (p.Arg231His) rs730880511 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_052989.3(IFT122):c.1577G>A (p.Arg526His) rs754275024 0.00002
NM_052989.3(IFT122):c.2302G>A (p.Val768Met) rs561825107 0.00002
NM_052989.3(IFT122):c.2393G>A (p.Arg798His) rs755677495 0.00002
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys) rs773080594 0.00002
NM_052989.3(IFT122):c.3047G>A (p.Arg1016Gln) rs758998922 0.00002
NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly) rs767833675 0.00002
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His) rs753932809 0.00002
NM_052989.3(IFT122):c.3154-9G>A rs759975764 0.00002
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu) rs1269892119 0.00002
NM_052989.3(IFT122):c.3252C>T (p.Ser1084=) rs775568842 0.00002
NM_052989.3(IFT122):c.394A>G (p.Ser132Gly) rs1048830398 0.00002
NM_052989.3(IFT122):c.511C>T (p.Arg171Trp) rs1064794186 0.00002
NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile) rs778910338 0.00002
NM_145861.4(EDARADD):c.*1985A>G rs774501424 0.00002
NM_145861.4(EDARADD):c.*921G>A rs886046192 0.00002
NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) rs1005957166 0.00002
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129 0.00002
NM_147127.5(EVC2):c.1092G>A (p.Met364Ile) rs769447796 0.00002
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00002
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln) rs770644264 0.00002
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser) rs200622704 0.00002
NM_147127.5(EVC2):c.2180G>A (p.Arg727His) rs140363692 0.00002
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415 0.00002
NM_147127.5(EVC2):c.2681A>T (p.Gln894Leu) rs556658594 0.00002
NM_147127.5(EVC2):c.2707-9C>G rs772234395 0.00002
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln) rs767317898 0.00002
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp) rs139610006 0.00002
NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val) rs750108569 0.00002
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr) rs747562782 0.00002
NM_147127.5(EVC2):c.3827G>T (p.Arg1276Ile) rs751725959 0.00002
NM_147127.5(EVC2):c.663G>T (p.Arg221Ser) rs753207027 0.00002
NM_147127.5(EVC2):c.705A>G (p.Gln235=) rs768647764 0.00002
NM_147127.5(EVC2):c.869C>T (p.Thr290Met) rs149414427 0.00002
NM_147127.5(EVC2):c.973T>C (p.Cys325Arg) rs1467471693 0.00002
NM_153717.3(EVC):c.*2465C>T rs555611922 0.00002
NM_153717.3(EVC):c.*869A>G rs79612644 0.00002
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys) rs756430334 0.00002
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801 0.00002
NM_153717.3(EVC):c.1776+5G>A rs968001713 0.00002
NM_153717.3(EVC):c.187C>G (p.Gln63Glu) rs371329240 0.00002
NM_153717.3(EVC):c.188A>G (p.Gln63Arg) rs772017175 0.00002
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys) rs745451709 0.00002
NM_153717.3(EVC):c.2554C>G (p.His852Asp) rs574669392 0.00002
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys) rs772327981 0.00002
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200 0.00002
NM_153717.3(EVC):c.626T>C (p.Val209Ala) rs1230866971 0.00002
NM_198253.3(TERT):c.*64G>A rs1327773385 0.00002
NM_198253.3(TERT):c.1130G>A (p.Arg377His) rs756954938 0.00002
NM_198253.3(TERT):c.146C>G (p.Ala49Gly) rs1060503013 0.00002
NM_198253.3(TERT):c.1580G>T (p.Gly527Val) rs1006357203 0.00002
NM_198253.3(TERT):c.1590G>A (p.Pro530=) rs1396912668 0.00002
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln) rs768168259 0.00002
NM_198253.3(TERT):c.2251G>A (p.Ala751Thr) rs772070672 0.00002
NM_198253.3(TERT):c.2444A>G (p.His815Arg) rs771392980 0.00002
NM_198253.3(TERT):c.2666G>A (p.Arg889Gln) rs532158398 0.00002
NM_198253.3(TERT):c.2744G>A (p.Gly915Asp) rs202033269 0.00002
NM_198253.3(TERT):c.2885G>A (p.Arg962His) rs759490631 0.00002
NM_198253.3(TERT):c.2886C>T (p.Arg962=) rs542440625 0.00002
NM_198253.3(TERT):c.2908A>C (p.Met970Leu) rs762647113 0.00002
NM_198253.3(TERT):c.2971-3T>C rs765078035 0.00002
NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln) rs765787352 0.00002
NM_198253.3(TERT):c.3304C>A (p.Gln1102Lys) rs1042447238 0.00002
NM_198253.3(TERT):c.3349G>T (p.Ala1117Ser) rs749874887 0.00002
NM_198253.3(TERT):c.550G>A (p.Ala184Thr) rs773758089 0.00002
NM_198253.3(TERT):c.592G>A (p.Gly198Arg) rs758442518 0.00002
NM_198253.3(TERT):c.619G>A (p.Val207Ile) rs943176303 0.00002
NM_198253.3(TERT):c.718C>A (p.Arg240Ser) rs1252662816 0.00002
NM_198253.3(TERT):c.724G>C (p.Ala242Pro) rs766054124 0.00002
NM_198253.3(TERT):c.776C>T (p.Pro259Leu) rs775613951 0.00002
NM_207118.3(GTF2H5):c.116A>T (p.Asp39Val) rs773165282 0.00002
NR_003051.4(RMRP):n.122A>G rs557578605 0.00002
NR_003051.4(RMRP):n.163C>T rs370797103 0.00002
NR_003051.4(RMRP):n.174C>T rs565056797 0.00002
NR_003051.4(RMRP):n.17C>T rs772664375 0.00002
NR_003051.4(RMRP):n.18C>T rs769169620 0.00002
NR_003051.4(RMRP):n.203C>T rs183570217 0.00002
NR_003051.4(RMRP):n.215C>T rs772665785 0.00002
NR_003051.4(RMRP):n.233G>A rs774897161 0.00002
NR_003051.4(RMRP):n.265G>A rs578123788 0.00002
NR_003051.4(RMRP):n.60T>C rs1040824418 0.00002
NC_000003.12:g.169764610G>A rs1060502986 0.00001
NC_000003.12:g.169764611C>T rs199422287 0.00001
NC_000003.12:g.169764629T>C rs1479831336 0.00001
NC_000003.12:g.169764630G>A rs1374142931 0.00001
NC_000003.12:g.169764631G>C rs1230531511 0.00001
NC_000003.12:g.169764638G>A rs776902194 0.00001
NC_000003.12:g.169764646G>A rs762726864 0.00001
NC_000003.12:g.169764652G>A rs766203739 0.00001
NC_000003.12:g.169764664C>T rs767519425 0.00001
NC_000003.12:g.169764666C>A rs1415109076 0.00001
NC_000003.12:g.169764671G>T rs1777958283 0.00001
NC_000003.12:g.169764679T>C rs1777958465 0.00001
NC_000003.12:g.169764698C>G rs1475263094 0.00001
NC_000003.12:g.169764702A>G rs753524068 0.00001
NC_000003.12:g.169764721T>G rs746192063 0.00001
NC_000003.12:g.169764740G>A rs747154095 0.00001
NC_000003.12:g.169764764G>A rs1206628752 0.00001
NC_000003.12:g.169764767G>A rs1254978694 0.00001
NC_000003.12:g.169764776T>C rs1777960434 0.00001
NC_000003.12:g.169764781C>G rs776511480 0.00001
NC_000003.12:g.169764794G>A rs762111072 0.00001
NC_000003.12:g.169764796G>A rs1167306715 0.00001
NC_000003.12:g.169764828C>T rs1325097452 0.00001
NC_000003.12:g.169764835G>A rs1367910897 0.00001
NC_000003.12:g.169764850G>A rs1346505603 0.00001
NC_000003.12:g.169764865G>A rs573600318 0.00001
NC_000003.12:g.169764892T>C rs1439415851 0.00001
NC_000003.12:g.169764896C>T rs367842608 0.00001
NC_000003.12:g.169764897T>G rs750837239 0.00001
NC_000003.12:g.169764901G>A rs747522689 0.00001
NC_000003.12:g.169764904T>A rs1268597311 0.00001
NC_000003.12:g.169764910G>A rs768990533 0.00001
NC_000003.12:g.169764911T>C rs781357040 0.00001
NC_000003.12:g.169764921C>T rs1469879190 0.00001
NC_000003.12:g.169764968C>G rs745711557 0.00001
NC_000003.12:g.169765006T>A rs1777964464 0.00001
NC_000003.12:g.169765017C>T rs763886920 0.00001
NC_000003.12:g.169765031C>T rs954091557 0.00001
NC_000003.12:g.169765032A>T rs1336050074 0.00001
NC_000003.12:g.169765050C>A rs1159032173 0.00001
NC_000009.12:g.35657948_35657949del rs1491544612 0.00001
NC_000009.12:g.35658013_35658020dup rs1169511671 0.00001
NC_000009.12:g.35658025del rs911564838 0.00001
NC_000009.12:g.35658034C>T rs780414839 0.00001
NC_000016.10:g.67660264G>T rs765105630 0.00001
NC_000016.10:g.67660304C>T rs1406176384 0.00001
NC_000016.10:g.67660316G>T rs774922687 0.00001
NC_000016.10:g.67660348C>A rs756883228 0.00001
NC_000016.10:g.67660354G>T rs1396620065 0.00001
NC_000016.10:g.67660357T>G rs755584473 0.00001
NC_000016.10:g.67660372C>T rs527307806 0.00001
NC_000016.10:g.67660382G>A rs776842448 0.00001
NC_000016.10:g.67660388T>C rs949049586 0.00001
NC_000016.10:g.67660402C>G rs781229512 0.00001
NC_000016.10:g.67660412C>G rs760222002 0.00001
NC_000020.11:g.63698573C>T rs766685059 0.00001
NM_000122.2(ERCC3):c.1457C>T (p.Pro486Leu) rs759152503 0.00001
NM_000122.2(ERCC3):c.1996G>A (p.Asp666Asn) rs587778275 0.00001
NM_000122.2(ERCC3):c.2089G>A (p.Glu697Lys) rs374262917 0.00001
NM_000165.5(GJA1):c.*538G>A rs886061014 0.00001
NM_000165.5(GJA1):c.*635C>T rs886061015 0.00001
NM_000165.5(GJA1):c.*916_*918del rs886061018 0.00001
NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn) rs772121642 0.00001
NM_000165.5(GJA1):c.1033A>G (p.Lys345Glu) rs764494850 0.00001
NM_000165.5(GJA1):c.1108C>T (p.Arg370Cys) rs994770541 0.00001
NM_000165.5(GJA1):c.1147T>C (p.Ter383Gln) rs751144223 0.00001
NM_000165.5(GJA1):c.353C>T (p.Thr118Ile) rs1773903009 0.00001
NM_000165.5(GJA1):c.483C>G (p.Phe161Leu) rs750243405 0.00001
NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr) rs143026885 0.00001
NM_000165.5(GJA1):c.743A>G (p.His248Arg) rs747365823 0.00001
NM_000165.5(GJA1):c.748A>G (p.Thr250Ala) rs769333167 0.00001
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro) rs376074787 0.00001
NM_000165.5(GJA1):c.860A>G (p.Lys287Arg) rs555927773 0.00001
NM_000165.5(GJA1):c.896G>A (p.Arg299His) rs778457698 0.00001
NM_000165.5(GJA1):c.905A>G (p.Asn302Ser) rs746806096 0.00001
NM_000165.5(GJA1):c.962G>T (p.Gly321Val) rs1294212392 0.00001
NM_000165.5(GJA1):c.968C>T (p.Ala323Val) rs756523929 0.00001
NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr) rs768632615 0.00001
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) rs141457460 0.00001
NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) rs1039034665 0.00001
NM_000400.4(ERCC2):c.1843G>A (p.Gly615Arg) rs1309347920 0.00001
NM_000400.4(ERCC2):c.1958C>T (p.Thr653Ile) rs763885481 0.00001
NM_000400.4(ERCC2):c.595-10G>A rs761737358 0.00001
NM_001005337.3(PKP1):c.*2543C>A rs140498940 0.00001
NM_001005337.3(PKP1):c.*2859G>A rs886045827 0.00001
NM_001005337.3(PKP1):c.*329C>T rs886045817 0.00001
NM_001005337.3(PKP1):c.*417G>A rs566048359 0.00001
NM_001005337.3(PKP1):c.*63G>C rs886045813 0.00001
NM_001005337.3(PKP1):c.*933A>G rs1454840941 0.00001
NM_001005337.3(PKP1):c.1014G>A (p.Leu338=) rs886045811 0.00001
NM_001005337.3(PKP1):c.1859C>T (p.Thr620Ile) rs777930312 0.00001
NM_001005337.3(PKP1):c.1934G>A (p.Arg645Lys) rs757610907 0.00001
NM_001005337.3(PKP1):c.378G>C (p.Trp126Cys) rs886045808 0.00001
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser) rs971237623 0.00001
NM_001082486.2(ACD):c.-20C>T rs148124985 0.00001
NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn) rs368783801 0.00001
NM_001082486.2(ACD):c.1018C>G (p.Pro340Ala) rs745338439 0.00001
NM_001082486.2(ACD):c.1046del (p.Ser349fs) rs1291433639 0.00001
NM_001082486.2(ACD):c.1052G>A (p.Arg351His) rs370293582 0.00001
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser) rs757414908 0.00001
NM_001082486.2(ACD):c.1088C>G (p.Thr363Ser) rs996525402 0.00001
NM_001082486.2(ACD):c.1125T>G (p.Phe375Leu) rs772867895 0.00001
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp) rs747913250 0.00001
NM_001082486.2(ACD):c.1205G>A (p.Trp402Ter) rs761750721 0.00001
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser) rs779041176 0.00001
NM_001082486.2(ACD):c.124G>A (p.Val42Ile) rs758513965 0.00001
NM_001082486.2(ACD):c.1262C>G (p.Pro421Arg) rs149418249 0.00001
NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp) rs775323156 0.00001
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln) rs1397584716 0.00001
NM_001082486.2(ACD):c.170C>T (p.Thr57Met) rs1383980242 0.00001
NM_001082486.2(ACD):c.175C>T (p.Leu59Phe) rs368387402 0.00001
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys) rs775602659 0.00001
NM_001082486.2(ACD):c.494-3C>G rs1173572864 0.00001
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro) rs1435126124 0.00001
NM_001082486.2(ACD):c.545del (p.Gln182fs) rs756960132 0.00001
NM_001082486.2(ACD):c.581C>T (p.Thr194Ile) rs144087853 0.00001
NM_001082486.2(ACD):c.590G>T (p.Gly197Val) rs780160617 0.00001
NM_001082486.2(ACD):c.608C>T (p.Pro203Leu) rs1445067662 0.00001
NM_001082486.2(ACD):c.631C>T (p.Arg211Ter) rs1339068886 0.00001
NM_001082486.2(ACD):c.632G>A (p.Arg211Gln) rs146270351 0.00001
NM_001082486.2(ACD):c.644C>T (p.Thr215Met) rs72547495 0.00001
NM_001082486.2(ACD):c.645G>A (p.Thr215=) rs571116752 0.00001
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr) rs1039048796 0.00001
NM_001082486.2(ACD):c.683G>A (p.Cys228Tyr) rs748280747 0.00001
NM_001082486.2(ACD):c.689C>A (p.Ser230Tyr) rs752793753 0.00001
NM_001082486.2(ACD):c.725C>T (p.Pro242Leu) rs139256582 0.00001
NM_001082486.2(ACD):c.742+4A>G rs1380521995 0.00001
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu) rs754631809 0.00001
NM_001082486.2(ACD):c.781C>G (p.Leu261Val) rs760404492 0.00001
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu) rs1035052101 0.00001
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu) rs1370466465 0.00001
NM_001082486.2(ACD):c.839C>G (p.Ala280Gly) rs779705657 0.00001
NM_001082486.2(ACD):c.85G>C (p.Gly29Arg) rs754815475 0.00001
NM_001082486.2(ACD):c.862G>A (p.Glu288Lys) rs200298308 0.00001
NM_001082486.2(ACD):c.884G>A (p.Ser295Asn) rs760978454 0.00001
NM_001082486.2(ACD):c.932G>A (p.Ser311Asn) rs748834837 0.00001
NM_001082486.2(ACD):c.99+3G>A rs1189416936 0.00001
NM_001099274.3(TINF2):c.1076G>A (p.Cys359Tyr) rs368350757 0.00001
NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu) rs201422008 0.00001
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile) rs749534744 0.00001
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln) rs1594548909 0.00001
NM_001099274.3(TINF2):c.128C>A (p.Ala43Asp) rs771709910 0.00001
NM_001099274.3(TINF2):c.1291C>A (p.Pro431Thr) rs756840009 0.00001
NM_001099274.3(TINF2):c.1309A>G (p.Ile437Val) rs777060713 0.00001
NM_001099274.3(TINF2):c.1313C>T (p.Pro438Leu) rs1184256281 0.00001
NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val) rs532096263 0.00001
NM_001099274.3(TINF2):c.144_145insTT (p.Val49fs) rs1334044756 0.00001
NM_001099274.3(TINF2):c.166C>G (p.Arg56Gly) rs753814680 0.00001
NM_001099274.3(TINF2):c.167G>A (p.Arg56His) rs777925529 0.00001
NM_001099274.3(TINF2):c.251A>G (p.Asn84Ser) rs1043122818 0.00001
NM_001099274.3(TINF2):c.253C>G (p.His85Asp) rs758462532 0.00001
NM_001099274.3(TINF2):c.364T>A (p.Ser122Thr) rs776604725 0.00001
NM_001099274.3(TINF2):c.388T>C (p.Ser130Pro) rs959871602 0.00001
NM_001099274.3(TINF2):c.389C>T (p.Ser130Leu) rs746984199 0.00001
NM_001099274.3(TINF2):c.400G>A (p.Glu134Lys) rs1429817346 0.00001
NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg) rs749849244 0.00001
NM_001099274.3(TINF2):c.598C>T (p.Leu200Phe) rs772502368 0.00001
NM_001099274.3(TINF2):c.621C>G (p.Asp207Glu) rs775914928 0.00001
NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro) rs377436580 0.00001
NM_001099274.3(TINF2):c.631C>G (p.Leu211Val) rs746287594 0.00001
NM_001099274.3(TINF2):c.679C>T (p.Leu227Phe) rs754706260 0.00001
NM_001099274.3(TINF2):c.716A>C (p.His239Pro) rs2040558735 0.00001
NM_001099274.3(TINF2):c.731C>T (p.Pro244Leu) rs775202856 0.00001
NM_001099274.3(TINF2):c.73G>C (p.Gly25Arg) rs766671951 0.00001
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter) rs200320654 0.00001
NM_001099274.3(TINF2):c.797G>A (p.Arg266Gln) rs200025766 0.00001
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu) rs369926102 0.00001
NM_001099274.3(TINF2):c.922G>T (p.Glu308Ter) rs1232383398 0.00001
NM_001099274.3(TINF2):c.932T>C (p.Ile311Thr) rs757221051 0.00001
NM_001099274.3(TINF2):c.967G>C (p.Ala323Pro) rs755072937 0.00001
NM_001099274.3(TINF2):c.984dup (p.Lys329Ter) rs903141690 0.00001
NM_001099274.3(TINF2):c.995G>A (p.Cys332Tyr) rs750745512 0.00001
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln) rs756786140 0.00001
NM_001102564.3(IFT43):c.214_215+2del rs777112610 0.00001
NM_001102564.3(IFT43):c.29A>G (p.Glu10Gly) rs1023671414 0.00001
NM_001102564.3(IFT43):c.311C>T (p.Pro104Leu) rs144547737 0.00001
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe) rs756188997 0.00001
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys) rs749145719 0.00001
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser) rs1359937590 0.00001
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile) rs1414874776 0.00001
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val) rs371422510 0.00001
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp) rs141866033 0.00001
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu) rs894168247 0.00001
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val) rs764790125 0.00001
NM_001110219.3(GJB6):c.*559C>T rs886050029 0.00001
NM_001110219.3(GJB6):c.-26A>G rs886050030 0.00001
NM_001110219.3(GJB6):c.-296+283T>C rs886050037 0.00001
NM_001110219.3(GJB6):c.-3G>A rs372835743 0.00001
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794 0.00001
NM_001110219.3(GJB6):c.393G>A (p.Ser131=) rs200353369 0.00001
NM_001110219.3(GJB6):c.458T>C (p.Val153Ala) rs779119807 0.00001
NM_001110219.3(GJB6):c.458T>G (p.Val153Gly) rs779119807 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg) rs752343828 0.00001
NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln) rs766604251 0.00001
NM_001143992.2(WRAP53):c.106G>A (p.Ala36Thr) rs1162035408 0.00001
NM_001143992.2(WRAP53):c.1241A>G (p.Asn414Ser) rs543868835 0.00001
NM_001143992.2(WRAP53):c.1273G>A (p.Gly425Arg) rs567221089 0.00001
NM_001143992.2(WRAP53):c.1394A>G (p.Asn465Ser) rs776553040 0.00001
NM_001143992.2(WRAP53):c.1441G>A (p.Gly481Ser) rs763828661 0.00001
NM_001143992.2(WRAP53):c.1448G>A (p.Arg483His) rs199522817 0.00001
NM_001143992.2(WRAP53):c.1480G>A (p.Glu494Lys) rs35123152 0.00001
NM_001143992.2(WRAP53):c.14A>C (p.Glu5Ala) rs752687945 0.00001
NM_001143992.2(WRAP53):c.1517G>A (p.Arg506His) rs143189042 0.00001
NM_001143992.2(WRAP53):c.159G>T (p.Leu53Phe) rs762717799 0.00001
NM_001143992.2(WRAP53):c.280G>A (p.Glu94Lys) rs554392556 0.00001
NM_001143992.2(WRAP53):c.432-15C>G rs771063284 0.00001
NM_001143992.2(WRAP53):c.752A>G (p.Glu251Gly) rs1255617679 0.00001
NM_001143992.2(WRAP53):c.767T>C (p.Ile256Thr) rs548123219 0.00001
NM_001143992.2(WRAP53):c.794G>A (p.Arg265Gln) rs752066677 0.00001
NM_001143992.2(WRAP53):c.822+10G>A rs372606750 0.00001
NM_001143992.2(WRAP53):c.860C>T (p.Pro287Leu) rs375280065 0.00001
NM_001283009.2(RTEL1):c.1058C>T (p.Ala353Val) rs762936013 0.00001
NM_001283009.2(RTEL1):c.1103C>T (p.Ser368Leu) rs765792997 0.00001
NM_001283009.2(RTEL1):c.1157C>T (p.Thr386Met) rs371141081 0.00001
NM_001283009.2(RTEL1):c.1183A>G (p.Ile395Val) rs1355147182 0.00001
NM_001283009.2(RTEL1):c.1216G>A (p.Glu406Lys) rs1417269541 0.00001
NM_001283009.2(RTEL1):c.1282G>A (p.Asp428Asn) rs758640195 0.00001
NM_001283009.2(RTEL1):c.1331C>G (p.Thr444Ser) rs763825991 0.00001
NM_001283009.2(RTEL1):c.1344G>C (p.Lys448Asn) rs755129499 0.00001
NM_001283009.2(RTEL1):c.1346G>A (p.Arg449Gln) rs779873020 0.00001
NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser) rs764665173 0.00001
NM_001283009.2(RTEL1):c.1414G>A (p.Val472Ile) rs941024707 0.00001
NM_001283009.2(RTEL1):c.1417C>T (p.Arg473Cys) rs1409999749 0.00001
NM_001283009.2(RTEL1):c.1460C>T (p.Ser487Phe) rs764219586 0.00001
NM_001283009.2(RTEL1):c.1482-10C>G rs754623770 0.00001
NM_001283009.2(RTEL1):c.1546G>A (p.Val516Ile) rs748223349 0.00001
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00001
NM_001283009.2(RTEL1):c.1691C>T (p.Pro564Leu) rs1189892333 0.00001
NM_001283009.2(RTEL1):c.1720C>T (p.Arg574Trp) rs1601164606 0.00001
NM_001283009.2(RTEL1):c.1742A>G (p.Lys581Arg) rs376161950 0.00001
NM_001283009.2(RTEL1):c.1751C>T (p.Ala584Val) rs779562019 0.00001
NM_001283009.2(RTEL1):c.1789A>G (p.Ser597Gly) rs774400247 0.00001
NM_001283009.2(RTEL1):c.179G>A (p.Arg60Gln) rs763415620 0.00001
NM_001283009.2(RTEL1):c.1862C>T (p.Ala621Val) rs535749230 0.00001
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg) rs1018679403 0.00001
NM_001283009.2(RTEL1):c.1906A>G (p.Thr636Ala) rs749428089 0.00001
NM_001283009.2(RTEL1):c.1907C>T (p.Thr636Met) rs200847054 0.00001
NM_001283009.2(RTEL1):c.191G>A (p.Arg64Gln) rs146544609 0.00001
NM_001283009.2(RTEL1):c.1931C>T (p.Thr644Met) rs1258123825 0.00001
NM_001283009.2(RTEL1):c.1936C>T (p.Leu646Phe) rs1323023332 0.00001
NM_001283009.2(RTEL1):c.1952G>T (p.Arg651Leu) rs773159241 0.00001
NM_001283009.2(RTEL1):c.2020G>T (p.Gly674Cys) rs747831615 0.00001
NM_001283009.2(RTEL1):c.2023C>A (p.Gln675Lys) rs772605324 0.00001
NM_001283009.2(RTEL1):c.2090G>T (p.Arg697Leu) rs1176364985 0.00001
NM_001283009.2(RTEL1):c.2098C>T (p.Arg700Trp) rs1003156687 0.00001
NM_001283009.2(RTEL1):c.2105G>A (p.Arg702His) rs1035926074 0.00001
NM_001283009.2(RTEL1):c.2114A>G (p.Tyr705Cys) rs2090684972 0.00001
NM_001283009.2(RTEL1):c.2140A>G (p.Arg714Gly) rs1156625021 0.00001
NM_001283009.2(RTEL1):c.2141+4C>T rs780002400 0.00001
NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn) rs781231332 0.00001
NM_001283009.2(RTEL1):c.2158G>A (p.Ala720Thr) rs755928414 0.00001
NM_001283009.2(RTEL1):c.217G>T (p.Ala73Ser) rs774311444 0.00001
NM_001283009.2(RTEL1):c.2266-3C>T rs200536844 0.00001
NM_001283009.2(RTEL1):c.2297C>A (p.Pro766His) rs2090705111 0.00001
NM_001283009.2(RTEL1):c.230A>G (p.Gln77Arg) rs771462323 0.00001
NM_001283009.2(RTEL1):c.2336C>T (p.Ser779Leu) rs761805038 0.00001
NM_001283009.2(RTEL1):c.2438A>C (p.Glu813Ala) rs756711633 0.00001
NM_001283009.2(RTEL1):c.2483G>A (p.Arg828Gln) rs774640608 0.00001
NM_001283009.2(RTEL1):c.2507C>G (p.Ala836Gly) rs761063091 0.00001
NM_001283009.2(RTEL1):c.2542C>A (p.Pro848Thr) rs1295440820 0.00001
NM_001283009.2(RTEL1):c.2567G>C (p.Cys856Ser) rs1398820483 0.00001
NM_001283009.2(RTEL1):c.2568C>G (p.Cys856Trp) rs1465417616 0.00001
NM_001283009.2(RTEL1):c.2590G>A (p.Glu864Lys) rs369777001 0.00001
NM_001283009.2(RTEL1):c.2620G>A (p.Gly874Arg) rs781632993 0.00001
NM_001283009.2(RTEL1):c.2635C>T (p.Arg879Trp) rs142877871 0.00001
NM_001283009.2(RTEL1):c.2669G>A (p.Gly890Asp) rs1243516442 0.00001
NM_001283009.2(RTEL1):c.2672C>T (p.Ala891Val) rs761295679 0.00001
NM_001283009.2(RTEL1):c.2705C>G (p.Ala902Gly) rs1394884130 0.00001
NM_001283009.2(RTEL1):c.2728G>C (p.Ala910Pro) rs751106916 0.00001
NM_001283009.2(RTEL1):c.2731A>C (p.Asn911His) rs754727644 0.00001
NM_001283009.2(RTEL1):c.2733C>A (p.Asn911Lys) rs372027131 0.00001
NM_001283009.2(RTEL1):c.2736T>G (p.Phe912Leu) rs755652402 0.00001
NM_001283009.2(RTEL1):c.2776G>A (p.Asp926Asn) rs369357121 0.00001
NM_001283009.2(RTEL1):c.2788G>A (p.Ala930Thr) rs371721039 0.00001
NM_001283009.2(RTEL1):c.2789C>T (p.Ala930Val) rs745711145 0.00001
NM_001283009.2(RTEL1):c.2795C>T (p.Ala932Val) rs1239433355 0.00001
NM_001283009.2(RTEL1):c.2798C>T (p.Ala933Val) rs541761600 0.00001
NM_001283009.2(RTEL1):c.2801G>T (p.Cys934Phe) rs1263651818 0.00001
NM_001283009.2(RTEL1):c.2842C>G (p.Leu948Val) rs750311914 0.00001
NM_001283009.2(RTEL1):c.2852G>T (p.Gly951Val) rs925928624 0.00001
NM_001283009.2(RTEL1):c.2866G>C (p.Val956Leu) rs942820151 0.00001
NM_001283009.2(RTEL1):c.2870G>A (p.Arg957Gln) rs753270617 0.00001
NM_001283009.2(RTEL1):c.2923G>C (p.Gly975Arg) rs754293748 0.00001
NM_001283009.2(RTEL1):c.2939C>G (p.Pro980Arg) rs1340326956 0.00001
NM_001283009.2(RTEL1):c.2963A>G (p.Gln988Arg) rs1357930914 0.00001
NM_001283009.2(RTEL1):c.2979C>G (p.Val993=) rs116365288 0.00001
NM_001283009.2(RTEL1):c.29C>T (p.Thr10Ile) rs751168157 0.00001
NM_001283009.2(RTEL1):c.3026C>T (p.Ser1009Phe) rs1026729377 0.00001
NM_001283009.2(RTEL1):c.3037G>A (p.Ala1013Thr) rs142568980 0.00001
NM_001283009.2(RTEL1):c.3073G>A (p.Gly1025Ser) rs1483445218 0.00001
NM_001283009.2(RTEL1):c.3082C>T (p.His1028Tyr) rs1368646805 0.00001
NM_001283009.2(RTEL1):c.3110-4C>G rs1417877726 0.00001
NM_001283009.2(RTEL1):c.3115C>T (p.Pro1039Ser) rs976592801 0.00001
NM_001283009.2(RTEL1):c.3148C>T (p.Pro1050Ser) rs368303890 0.00001
NM_001283009.2(RTEL1):c.3154G>A (p.Ala1052Thr) rs1266676069 0.00001
NM_001283009.2(RTEL1):c.3157G>C (p.Gly1053Arg) rs1321802859 0.00001
NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr) rs773397014 0.00001
NM_001283009.2(RTEL1):c.3190C>G (p.Leu1064Val) rs373448481 0.00001
NM_001283009.2(RTEL1):c.3196G>A (p.Asp1066Asn) rs748671796 0.00001
NM_001283009.2(RTEL1):c.3220G>A (p.Ala1074Thr) rs780364760 0.00001
NM_001283009.2(RTEL1):c.3227G>A (p.Cys1076Tyr) rs781481182 0.00001
NM_001283009.2(RTEL1):c.3254C>T (p.Ala1085Val) rs771545243 0.00001
NM_001283009.2(RTEL1):c.3268G>A (p.Asp1090Asn) rs761447586 0.00001
NM_001283009.2(RTEL1):c.3301G>A (p.Ala1101Thr) rs746445840 0.00001
NM_001283009.2(RTEL1):c.3325G>A (p.Asp1109Asn) rs764303844 0.00001
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr) rs148621466 0.00001
NM_001283009.2(RTEL1):c.3332C>T (p.Pro1111Leu) rs746179380 0.00001
NM_001283009.2(RTEL1):c.3344-6C>G rs1455821579 0.00001
NM_001283009.2(RTEL1):c.336C>T (p.Ala112=) rs778831023 0.00001
NM_001283009.2(RTEL1):c.3379C>T (p.Arg1127Cys) rs745614952 0.00001
NM_001283009.2(RTEL1):c.3380G>A (p.Arg1127His) rs771768208 0.00001
NM_001283009.2(RTEL1):c.3391A>T (p.Thr1131Ser) rs1471853155 0.00001
NM_001283009.2(RTEL1):c.3419A>T (p.Tyr1140Phe) rs200622914 0.00001
NM_001283009.2(RTEL1):c.3467C>T (p.Pro1156Leu) rs746759990 0.00001
NM_001283009.2(RTEL1):c.3523G>A (p.Gly1175Arg) rs769538947 0.00001
NM_001283009.2(RTEL1):c.3530C>T (p.Thr1177Ile) rs755098827 0.00001
NM_001283009.2(RTEL1):c.3536G>A (p.Ser1179Asn) rs1350306450 0.00001
NM_001283009.2(RTEL1):c.3594G>C (p.Glu1198Asp) rs1440306935 0.00001
NM_001283009.2(RTEL1):c.3640G>A (p.Ala1214Thr) rs1247941163 0.00001
NM_001283009.2(RTEL1):c.3672C>G (p.Asp1224Glu) rs779295227 0.00001
NM_001283009.2(RTEL1):c.3676G>A (p.Ala1226Thr) rs371373011 0.00001
NM_001283009.2(RTEL1):c.3790C>T (p.Arg1264Cys) rs761902346 0.00001
NM_001283009.2(RTEL1):c.3811C>T (p.Arg1271Trp) rs993254667 0.00001
NM_001283009.2(RTEL1):c.3812G>A (p.Arg1271Gln) rs754719045 0.00001
NM_001283009.2(RTEL1):c.3823-13G>A rs879061607 0.00001
NM_001283009.2(RTEL1):c.3823-3C>T rs1242643276 0.00001
NM_001283009.2(RTEL1):c.3853G>A (p.Ala1285Thr) rs760281201 0.00001
NM_001283009.2(RTEL1):c.3875T>G (p.Met1292Arg) rs2090967240 0.00001
NM_001283009.2(RTEL1):c.395G>A (p.Arg132Gln) rs762587175 0.00001
NM_001283009.2(RTEL1):c.396-31C>T rs562173928 0.00001
NM_001283009.2(RTEL1):c.396-48G>A rs1274609500 0.00001
NM_001283009.2(RTEL1):c.396-79C>T rs776396450 0.00001
NM_001283009.2(RTEL1):c.436A>G (p.Ile146Val) rs1420390084 0.00001
NM_001283009.2(RTEL1):c.454A>G (p.Lys152Glu) rs1234907654 0.00001
NM_001283009.2(RTEL1):c.477+7T>C rs141915461 0.00001
NM_001283009.2(RTEL1):c.509G>A (p.Arg170His) rs750794827 0.00001
NM_001283009.2(RTEL1):c.532G>A (p.Val178Ile) rs184051277 0.00001
NM_001283009.2(RTEL1):c.533T>C (p.Val178Ala) rs199685200 0.00001
NM_001283009.2(RTEL1):c.539-6C>A rs778544732 0.00001
NM_001283009.2(RTEL1):c.563C>T (p.Ala188Val) rs1258972797 0.00001
NM_001283009.2(RTEL1):c.596A>G (p.Lys199Arg) rs1377331597 0.00001
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp) rs560281693 0.00001
NM_001283009.2(RTEL1):c.658G>A (p.Asp220Asn) rs776356655 0.00001
NM_001283009.2(RTEL1):c.703C>T (p.Arg235Cys) rs866782181 0.00001
NM_001283009.2(RTEL1):c.739G>A (p.Val247Met) rs1194320122 0.00001
NM_001283009.2(RTEL1):c.773T>C (p.Met258Thr) rs1555901763 0.00001
NM_001283009.2(RTEL1):c.883C>A (p.Pro295Thr) rs755010352 0.00001
NM_001283009.2(RTEL1):c.905A>G (p.Asp302Gly) rs776979963 0.00001
NM_001283009.2(RTEL1):c.983C>G (p.Ala328Gly) rs561033103 0.00001
NM_001363.5(DKC1):c.1006A>G (p.Ile336Val) rs781943265 0.00001
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala) rs1347625639 0.00001
NM_001363.5(DKC1):c.1318G>A (p.Glu440Lys) rs782193188 0.00001
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val) rs782117503 0.00001
NM_001363.5(DKC1):c.1353T>A (p.Ser451Arg) rs370788135 0.00001
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu) rs1557265697 0.00001
NM_001363.5(DKC1):c.1481G>A (p.Ser494Asn) rs1557265768 0.00001
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn) rs1370393255 0.00001
NM_001363.5(DKC1):c.259A>G (p.Ile87Val) rs782202263 0.00001
NM_001363.5(DKC1):c.537C>G (p.Ala179=) rs782697778 0.00001
NM_001363.5(DKC1):c.640+3G>A rs1557264306 0.00001
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser) rs140273992 0.00001
NM_001399.5(EDA):c.1163C>A (p.Ala388Asp) rs755527924 0.00001
NM_001399.5(EDA):c.249C>G (p.Thr83=) rs769141538 0.00001
NM_001793.5(CDH3):c.-282G>T rs886052226 0.00001
NM_001793.6(CDH3):c.1050G>A (p.Thr350=) rs551272419 0.00001
NM_001793.6(CDH3):c.1119C>T (p.Asp373=) rs995548981 0.00001
NM_001793.6(CDH3):c.1199C>G (p.Ala400Gly) rs112133581 0.00001
NM_001793.6(CDH3):c.1284G>A (p.Val428=) rs911987634 0.00001
NM_001793.6(CDH3):c.1848C>T (p.Asp616=) rs768811436 0.00001
NM_001793.6(CDH3):c.1932C>T (p.Val644=) rs750805163 0.00001
NM_001793.6(CDH3):c.2061C>T (p.Leu687=) rs1567457224 0.00001
NM_001793.6(CDH3):c.2340C>T (p.Phe780=) rs1425381774 0.00001
NM_001793.6(CDH3):c.2444G>A (p.Arg815His) rs557740168 0.00001
NM_001793.6(CDH3):c.324T>C (p.Asp108=) rs780231573 0.00001
NM_001793.6(CDH3):c.46-11C>T rs1191322448 0.00001
NM_001793.6(CDH3):c.475G>A (p.Ala159Thr) rs773525226 0.00001
NM_001793.6(CDH3):c.820C>T (p.Arg274Trp) rs199812197 0.00001
NM_001793.6(CDH3):c.886C>G (p.Leu296Val) rs565345878 0.00001
NM_001814.6(CTSC):c.1097A>T (p.His366Leu) rs751798574 0.00001
NM_001814.6(CTSC):c.12G>A (p.Gly4=) rs755959403 0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val) rs886048742 0.00001
NM_001814.6(CTSC):c.318+4A>G rs781383788 0.00001
NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys) rs763656343 0.00001
NM_001814.6(CTSC):c.642-15A>G rs748280232 0.00001
NM_001814.6(CTSC):c.81T>G (p.Pro27=) rs1370319468 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237 0.00001
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile) rs780411112 0.00001
NM_001854.4(COL11A1):c.4373T>C (p.Ile1458Thr) rs1651478594 0.00001
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg) rs925433052 0.00001
NM_002448.3(MSX1):c.251A>T (p.Glu84Val) rs28928890 0.00001
NM_002448.3(MSX1):c.310G>C (p.Gly104Arg) rs768005654 0.00001
NM_002448.3(MSX1):c.544G>A (p.Ala182Thr) rs549162057 0.00001
NM_002448.3(MSX1):c.623C>G (p.Ser208Trp) rs104893853 0.00001
NM_002448.3(MSX1):c.782C>G (p.Ala261Gly) rs1459531026 0.00001
NM_002448.3(MSX1):c.850C>T (p.Pro284Ser) rs771885867 0.00001
NM_002582.4(PARN):c.1019A>G (p.Asn340Ser) rs768793595 0.00001
NM_002582.4(PARN):c.1045C>T (p.Arg349Trp) rs754368658 0.00001
NM_002582.4(PARN):c.104G>C (p.Ser35Thr) rs1972801342 0.00001
NM_002582.4(PARN):c.1067A>G (p.Asn356Ser) rs757655633 0.00001
NM_002582.4(PARN):c.1090G>A (p.Glu364Lys) rs772109946 0.00001
NM_002582.4(PARN):c.1132G>A (p.Glu378Lys) rs761566642 0.00001
NM_002582.4(PARN):c.1262+6T>C rs1382552508 0.00001
NM_002582.4(PARN):c.1262A>G (p.Lys421Arg) rs777090017 0.00001
NM_002582.4(PARN):c.1277G>A (p.Arg426Lys) rs1267290979 0.00001
NM_002582.4(PARN):c.1331G>A (p.Arg444His) rs1171017864 0.00001
NM_002582.4(PARN):c.1381C>G (p.Leu461Val) rs1225884986 0.00001
NM_002582.4(PARN):c.1497A>C (p.Lys499Asn) rs1185388930 0.00001
NM_002582.4(PARN):c.1514G>A (p.Arg505Gln) rs760452316 0.00001
NM_002582.4(PARN):c.1531G>A (p.Glu511Lys) rs759381342 0.00001
NM_002582.4(PARN):c.1612C>T (p.Arg538Trp) rs183781022 0.00001
NM_002582.4(PARN):c.178-3C>T rs1394966197 0.00001
NM_002582.4(PARN):c.1783G>T (p.Asp595Tyr) rs767702074 0.00001
NM_002582.4(PARN):c.1835A>G (p.Lys612Arg) rs1361443338 0.00001
NM_002582.4(PARN):c.1870A>G (p.Ile624Val) rs535627250 0.00001
NM_002582.4(PARN):c.244_245+6dup rs1481415822 0.00001
NM_002582.4(PARN):c.250A>G (p.Ile84Val) rs1430004851 0.00001
NM_002582.4(PARN):c.281C>T (p.Pro94Leu) rs1972723198 0.00001
NM_002582.4(PARN):c.350C>G (p.Ala117Gly) rs1972010104 0.00001
NM_002582.4(PARN):c.449G>A (p.Arg150His) rs755153974 0.00001
NM_002582.4(PARN):c.494A>G (p.Asn165Ser) rs775164255 0.00001
NM_002582.4(PARN):c.496A>G (p.Thr166Ala) rs370388189 0.00001
NM_002582.4(PARN):c.515C>T (p.Thr172Met) rs201180499 0.00001
NM_002582.4(PARN):c.540_554+8dup rs755696071 0.00001
NM_002582.4(PARN):c.573A>T (p.Leu191Phe) rs765326441 0.00001
NM_002582.4(PARN):c.733G>A (p.Asp245Asn) rs1375796074 0.00001
NM_002582.4(PARN):c.746G>A (p.Arg249His) rs775658912 0.00001
NM_002582.4(PARN):c.76G>A (p.Ala26Thr) rs768398246 0.00001
NM_002582.4(PARN):c.853A>G (p.Ile285Val) rs376031010 0.00001
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val) rs533695080 0.00001
NM_002755.4(MAP2K1):c.71G>C (p.Ser24Thr) rs1290055913 0.00001
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser) rs771613524 0.00001
NM_002855.5(NECTIN1):c.*1168C>T rs572202348 0.00001
NM_002855.5(NECTIN1):c.*1422G>A rs973497387 0.00001
NM_002855.5(NECTIN1):c.*3185C>T rs778138067 0.00001
NM_002855.5(NECTIN1):c.*3294G>T rs560856416 0.00001
NM_002855.5(NECTIN1):c.*3426C>T rs908923186 0.00001
NM_002855.5(NECTIN1):c.*3634T>C rs1460034515 0.00001
NM_002855.5(NECTIN1):c.*438C>T rs760416313 0.00001
NM_002855.5(NECTIN1):c.-50C>G rs1410948549 0.00001
NM_002855.5(NECTIN1):c.1438G>A (p.Gly480Ser) rs147334676 0.00001
NM_003722.5(TP63):c.1394C>T (p.Pro465Leu) rs775037738 0.00001
NM_003722.5(TP63):c.1528A>T (p.Met510Leu) rs769778189 0.00001
NM_003722.5(TP63):c.1612A>G (p.Thr538Ala) rs565094952 0.00001
NM_003722.5(TP63):c.1825G>A (p.Glu609Lys) rs142762485 0.00001
NM_003722.5(TP63):c.2003G>A (p.Arg668His) rs758317410 0.00001
NM_003722.5(TP63):c.210G>C (p.Gln70His) rs201631366 0.00001
NM_003722.5(TP63):c.289C>T (p.Arg97Cys) rs121908848 0.00001
NM_003722.5(TP63):c.290G>A (p.Arg97His) rs752080701 0.00001
NM_003722.5(TP63):c.62G>A (p.Arg21His) rs766583971 0.00001
NM_003823.4(TNFRSF6B):c.364C>T (p.His122Tyr) rs750153793 0.00001
NM_003823.4(TNFRSF6B):c.748C>T (p.Arg250Cys) rs753653499 0.00001
NM_004004.6(GJB2):c.*550A>G rs1959051090 0.00001
NM_004004.6(GJB2):c.*679T>C rs1006432105 0.00001
NM_004004.6(GJB2):c.*979A>G rs546826225 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.174A>G (p.Pro58=) rs778922005 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.512C>T (p.Ala171Val) rs1555341850 0.00001
NM_004004.6(GJB2):c.557C>T (p.Thr186Met) rs753674300 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004278.4(PIGL):c.*318C>A rs146448001 0.00001
NM_004278.4(PIGL):c.130C>T (p.Leu44=) rs776742163 0.00001
NM_004278.4(PIGL):c.296T>G (p.Leu99Trp) rs1179113684 0.00001
NM_004278.4(PIGL):c.30G>T (p.Ala10=) rs147669920 0.00001
NM_004278.4(PIGL):c.480G>A (p.Leu160=) rs114697377 0.00001
NM_004278.4(PIGL):c.534T>C (p.Ser178=) rs114145762 0.00001
NM_004278.4(PIGL):c.535G>A (p.Val179Met) rs116591352 0.00001
NM_004278.4(PIGL):c.540C>T (p.Leu180=) rs115695383 0.00001
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln) rs1158980679 0.00001
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro) rs1011563467 0.00001
NM_004333.6(BRAF):c.113C>T (p.Ala38Val) rs886042293 0.00001
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072 0.00001
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637 0.00001
NM_004333.6(BRAF):c.1690A>G (p.Met564Val) rs745783052 0.00001
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala) rs1211436028 0.00001
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_004333.6(BRAF):c.89G>A (p.Gly30Asp) rs1273585752 0.00001
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met) rs587782856 0.00001
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile) rs556110297 0.00001
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser) rs773441320 0.00001
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met) rs587778170 0.00001
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val) rs1003012321 0.00001
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile) rs587780120 0.00001
NM_004360.5(CDH1):c.2380G>A (p.Val794Ile) rs587782466 0.00001
NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys) rs587782162 0.00001
NM_004360.5(CDH1):c.2602C>A (p.Arg868Ser) rs864622630 0.00001
NM_004360.5(CDH1):c.2603G>A (p.Arg868His) rs369126891 0.00001
NM_004360.5(CDH1):c.322A>G (p.Arg108Gly) rs587778172 0.00001
NM_004360.5(CDH1):c.631A>G (p.Thr211Ala) rs587781766 0.00001
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe) rs774852168 0.00001
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser) rs746245682 0.00001
NM_004415.4(DSP):c.1045-3C>T rs765077011 0.00001
NM_004415.4(DSP):c.1051A>G (p.Met351Val) rs1372435657 0.00001
NM_004415.4(DSP):c.106G>A (p.Gly36Ser) rs1395509692 0.00001
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe) rs794728112 0.00001
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser) rs1064795084 0.00001
NM_004415.4(DSP):c.117G>T (p.Arg39Ser) rs748578019 0.00001
NM_004415.4(DSP):c.1197C>G (p.Ile399Met) rs375828592 0.00001
NM_004415.4(DSP):c.120G>A (p.Met40Ile) rs1377575571 0.00001
NM_004415.4(DSP):c.1225A>T (p.Met409Leu) rs890837021 0.00001
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro) rs763523373 0.00001
NM_004415.4(DSP):c.1268A>G (p.Lys423Arg) rs1175321093 0.00001
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) rs397516916 0.00001
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu) rs1430756602 0.00001
NM_004415.4(DSP):c.1283T>A (p.Ile428Asn) rs760246407 0.00001
NM_004415.4(DSP):c.1291T>C (p.Tyr431His) rs1039885114 0.00001
NM_004415.4(DSP):c.1297C>T (p.Arg433Cys) rs767032884 0.00001
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn) rs1037212969 0.00001
NM_004415.4(DSP):c.136G>A (p.Gly46Ser) rs371517189 0.00001
NM_004415.4(DSP):c.1378C>G (p.Pro460Ala) rs749422119 0.00001
NM_004415.4(DSP):c.1465G>A (p.Glu489Lys) rs904467199 0.00001
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.146C>G (p.Thr49Ser) rs151153655 0.00001
NM_004415.4(DSP):c.1472G>A (p.Ser491Asn) rs930342643 0.00001
NM_004415.4(DSP):c.1502T>C (p.Val501Ala) rs544017143 0.00001
NM_004415.4(DSP):c.1553T>G (p.Leu518Arg) rs1758969230 0.00001
NM_004415.4(DSP):c.1564C>G (p.Leu522Val) rs1230995902 0.00001
NM_004415.4(DSP):c.1568C>T (p.Ser523Phe) rs1276338018 0.00001
NM_004415.4(DSP):c.1574+3A>G rs1231896749 0.00001
NM_004415.4(DSP):c.1582C>G (p.Gln528Glu) rs1267435790 0.00001
NM_004415.4(DSP):c.1671A>G (p.Ile557Met) rs766505506 0.00001
NM_004415.4(DSP):c.1714C>T (p.Arg572Trp) rs796851273 0.00001
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln) rs370531666 0.00001
NM_004415.4(DSP):c.1726T>C (p.Tyr576His) rs1251859576 0.00001
NM_004415.4(DSP):c.1730T>C (p.Met577Thr) rs141956992 0.00001
NM_004415.4(DSP):c.1731G>A (p.Met577Ile) rs794728101 0.00001
NM_004415.4(DSP):c.17G>A (p.Gly6Asp) rs1339636876 0.00001
NM_004415.4(DSP):c.181A>G (p.Thr61Ala) rs1380249575 0.00001
NM_004415.4(DSP):c.182C>T (p.Thr61Met) rs200250096 0.00001
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg) rs139964486 0.00001
NM_004415.4(DSP):c.1960G>A (p.Val654Ile) rs375629257 0.00001
NM_004415.4(DSP):c.197A>T (p.Gln66Leu) rs794728152 0.00001
NM_004415.4(DSP):c.2023A>G (p.Ile675Val) rs142619902 0.00001
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys) rs749238502 0.00001
NM_004415.4(DSP):c.2054G>C (p.Arg685Thr) rs1212756552 0.00001
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe) rs1363445022 0.00001
NM_004415.4(DSP):c.2077C>G (p.Leu693Val) rs1339486272 0.00001
NM_004415.4(DSP):c.2081C>T (p.Ala694Val) rs543446763 0.00001
NM_004415.4(DSP):c.2158G>T (p.Ala720Ser) rs1180846023 0.00001
NM_004415.4(DSP):c.2186T>C (p.Met729Thr) rs758200210 0.00001
NM_004415.4(DSP):c.2192C>A (p.Ala731Asp) rs1280322841 0.00001
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro) rs935504136 0.00001
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys) rs730880080 0.00001
NM_004415.4(DSP):c.2298-3C>T rs1300722110 0.00001
NM_004415.4(DSP):c.2372T>C (p.Leu791Pro) rs1406788095 0.00001
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397 0.00001
NM_004415.4(DSP):c.2415A>C (p.Glu805Asp) rs1554107530 0.00001
NM_004415.4(DSP):c.2423G>A (p.Arg808His) rs372906646 0.00001
NM_004415.4(DSP):c.2482A>G (p.Met828Val) rs1338201926 0.00001
NM_004415.4(DSP):c.249G>A (p.Met83Ile) rs1426930663 0.00001
NM_004415.4(DSP):c.2510A>C (p.Gln837Pro) rs1202933658 0.00001
NM_004415.4(DSP):c.2515C>T (p.His839Tyr) rs1561693806 0.00001
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup) rs730880373 0.00001
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr) rs534413559 0.00001
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu) rs794728118 0.00001
NM_004415.4(DSP):c.2629A>C (p.Arg877=) rs1581810753 0.00001
NM_004415.4(DSP):c.2630+3A>G rs1174928581 0.00001
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys) rs730880081 0.00001
NM_004415.4(DSP):c.265G>A (p.Val89Met) rs766022243 0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_004415.4(DSP):c.2698A>G (p.Lys900Glu) rs371493210 0.00001
NM_004415.4(DSP):c.2728G>A (p.Asp910Asn) rs775080138 0.00001
NM_004415.4(DSP):c.273+3A>G rs794728107 0.00001
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) rs759869347 0.00001
NM_004415.4(DSP):c.2850T>G (p.Ile950Met) rs727502999 0.00001
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro) rs745641212 0.00001
NM_004415.4(DSP):c.2872A>G (p.Ile958Val) rs377116090 0.00001
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile) rs1265482489 0.00001
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro) rs1473895931 0.00001
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr) rs397516929 0.00001
NM_004415.4(DSP):c.2962C>T (p.Pro988Ser) rs774742340 0.00001
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559 0.00001
NM_004415.4(DSP):c.2985G>A (p.Glu995=) rs768858918 0.00001
NM_004415.4(DSP):c.2995G>A (p.Val999Ile) rs1261418744 0.00001
NM_004415.4(DSP):c.2T>G (p.Met1Arg) rs748738880 0.00001
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser) rs1218975129 0.00001
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp) rs772551736 0.00001
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly) rs1413346143 0.00001
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr) rs773331618 0.00001
NM_004415.4(DSP):c.3067A>C (p.Ser1023Arg) rs766388963 0.00001
NM_004415.4(DSP):c.3084G>A (p.Lys1028=) rs964949139 0.00001
NM_004415.4(DSP):c.308G>A (p.Arg103Gln) rs775015862 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3200C>T (p.Ala1067Val) rs1317030435 0.00001
NM_004415.4(DSP):c.3221C>T (p.Ala1074Val) rs745849763 0.00001
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr) rs1185986064 0.00001
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala) rs761524542 0.00001
NM_004415.4(DSP):c.3379T>C (p.Ser1127Pro) rs1581815458 0.00001
NM_004415.4(DSP):c.3526G>T (p.Val1176Phe) rs1261167694 0.00001
NM_004415.4(DSP):c.3530T>A (p.Leu1177Gln) rs770489625 0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634 0.00001
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys) rs751566392 0.00001
NM_004415.4(DSP):c.3605A>T (p.Glu1202Val) rs374266534 0.00001
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser) rs777375223 0.00001
NM_004415.4(DSP):c.3649A>T (p.Thr1217Ser) rs770484693 0.00001
NM_004415.4(DSP):c.364G>A (p.Asp122Asn) rs756013600 0.00001
NM_004415.4(DSP):c.3680A>G (p.Gln1227Arg) rs1458557680 0.00001
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln) rs867067755 0.00001
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn) rs989348634 0.00001
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu) rs924651718 0.00001
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504 0.00001
NM_004415.4(DSP):c.3838T>C (p.Cys1280Arg) rs1473719755 0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456 0.00001
NM_004415.4(DSP):c.386G>A (p.Arg129Gln) rs749155619 0.00001
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637 0.00001
NM_004415.4(DSP):c.3905G>A (p.Arg1302His) rs760691999 0.00001
NM_004415.4(DSP):c.3919G>A (p.Ala1307Thr) rs367579811 0.00001
NM_004415.4(DSP):c.3968A>G (p.Lys1323Arg) rs971198843 0.00001
NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys) rs547568275 0.00001
NM_004415.4(DSP):c.4043T>G (p.Leu1348Arg) rs767003564 0.00001
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn) rs144465638 0.00001
NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser) rs746333083 0.00001
NM_004415.4(DSP):c.408T>G (p.Asp136Glu) rs774188472 0.00001
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile) rs530481219 0.00001
NM_004415.4(DSP):c.4112A>G (p.Asn1371Ser) rs369649373 0.00001
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile) rs762930286 0.00001
NM_004415.4(DSP):c.4142C>G (p.Thr1381Ser) rs767174407 0.00001
NM_004415.4(DSP):c.4184T>A (p.Ile1395Lys) rs1220191244 0.00001
NM_004415.4(DSP):c.423G>C (p.Arg141Ser) rs771688614 0.00001
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271 0.00001
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro) rs1561698695 0.00001
NM_004415.4(DSP):c.431A>C (p.Gln144Pro) rs768178768 0.00001
NM_004415.4(DSP):c.4358A>C (p.Gln1453Pro) rs1464785832 0.00001
NM_004415.4(DSP):c.4433A>G (p.Asp1478Gly) rs767339003 0.00001
NM_004415.4(DSP):c.4447A>T (p.Ile1483Leu) rs775143161 0.00001
NM_004415.4(DSP):c.4448T>C (p.Ile1483Thr) rs745872344 0.00001
NM_004415.4(DSP):c.4457T>C (p.Leu1486Ser) rs779863353 0.00001
NM_004415.4(DSP):c.4513G>A (p.Ala1505Thr) rs1488770025 0.00001
NM_004415.4(DSP):c.4592A>C (p.Gln1531Pro) rs1208037043 0.00001
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn) rs750607476 0.00001
NM_004415.4(DSP):c.4625A>G (p.Tyr1542Cys) rs1279142467 0.00001
NM_004415.4(DSP):c.4666A>G (p.Ile1556Val) rs530647574 0.00001
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro) rs1394590334 0.00001
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp) rs755868373 0.00001
NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser) rs778603023 0.00001
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu) rs773622004 0.00001
NM_004415.4(DSP):c.479G>A (p.Arg160Gln) rs752941845 0.00001
NM_004415.4(DSP):c.4841A>G (p.Asn1614Ser) rs1759419529 0.00001
NM_004415.4(DSP):c.4862A>G (p.Gln1621Arg) rs1226931552 0.00001
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly) rs1304994640 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_004415.4(DSP):c.50T>G (p.Met17Arg) rs559248100 0.00001
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu) rs768870428 0.00001
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe) rs372452104 0.00001
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser) rs1278859783 0.00001
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg) rs377344768 0.00001
NM_004415.4(DSP):c.5242A>G (p.Thr1748Ala) rs1315952619 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_004415.4(DSP):c.5284C>T (p.Arg1762Trp) rs766833113 0.00001
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg) rs987386495 0.00001
NM_004415.4(DSP):c.5412G>T (p.Gln1804His) rs779809935 0.00001
NM_004415.4(DSP):c.5485C>G (p.Leu1829Val) rs769284245 0.00001
NM_004415.4(DSP):c.5647T>C (p.Ser1883Pro) rs1056652234 0.00001
NM_004415.4(DSP):c.5648C>T (p.Ser1883Leu) rs1418959797 0.00001
NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys) rs794728103 0.00001
NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys) rs1352220803 0.00001
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104 0.00001
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys) rs748825632 0.00001
NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys) rs777048976 0.00001
NM_004415.4(DSP):c.5822A>C (p.Lys1941Thr) rs143484124 0.00001
NM_004415.4(DSP):c.582G>T (p.Trp194Cys) rs1345570966 0.00001
NM_004415.4(DSP):c.5833C>T (p.Arg1945Cys) rs1456378645 0.00001
NM_004415.4(DSP):c.5834G>A (p.Arg1945His) rs759516161 0.00001
NM_004415.4(DSP):c.5875T>C (p.Trp1959Arg) rs1759501923 0.00001
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950 0.00001
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn) rs759443302 0.00001
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu) rs763921000 0.00001
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) rs794728128 0.00001
NM_004415.4(DSP):c.599C>T (p.Ala200Val) rs1337095425 0.00001
NM_004415.4(DSP):c.6002T>A (p.Val2001Glu) rs926676669 0.00001
NM_004415.4(DSP):c.6014C>T (p.Ala2005Val) rs749925817 0.00001
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala) rs1327599046 0.00001
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln) rs185846631 0.00001
NM_004415.4(DSP):c.6137T>G (p.Val2046Gly) rs746016404 0.00001
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile) rs374226658 0.00001
NM_004415.4(DSP):c.61G>A (p.Glu21Lys) rs747956457 0.00001
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr) rs377035113 0.00001
NM_004415.4(DSP):c.6235G>C (p.Asp2079His) rs992731463 0.00001
NM_004415.4(DSP):c.6259T>C (p.Tyr2087His) rs780332266 0.00001
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys) rs397516951 0.00001
NM_004415.4(DSP):c.634G>A (p.Ala212Thr) rs1028793473 0.00001
NM_004415.4(DSP):c.6359C>T (p.Thr2120Ile) rs1759528864 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.6403G>A (p.Val2135Ile) rs1416815807 0.00001
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp) rs762434061 0.00001
NM_004415.4(DSP):c.6455G>T (p.Gly2152Val) rs1040120840 0.00001
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln) rs771692503 0.00001
NM_004415.4(DSP):c.6547T>G (p.Tyr2183Asp) rs763549172 0.00001
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile) rs958098310 0.00001
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val) rs752057967 0.00001
NM_004415.4(DSP):c.664C>T (p.Arg222Trp) rs1233981969 0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu) rs759982048 0.00001
NM_004415.4(DSP):c.6733G>A (p.Glu2245Lys) rs539763516 0.00001
NM_004415.4(DSP):c.677A>G (p.Asn226Ser) rs921332894 0.00001
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser) rs869025396 0.00001
NM_004415.4(DSP):c.6880G>A (p.Ala2294Thr) rs1422022096 0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys) rs765245807 0.00001
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687 0.00001
NM_004415.4(DSP):c.695G>A (p.Arg232His) rs749438581 0.00001
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) rs777901747 0.00001
NM_004415.4(DSP):c.7162G>A (p.Val2388Ile) rs370490538 0.00001
NM_004415.4(DSP):c.7172C>T (p.Ala2391Val) rs879254351 0.00001
NM_004415.4(DSP):c.7193A>G (p.Asn2398Ser) rs1251606363 0.00001
NM_004415.4(DSP):c.721G>A (p.Asp241Asn) rs868293429 0.00001
NM_004415.4(DSP):c.7235C>A (p.Thr2412Asn) rs775399575 0.00001
NM_004415.4(DSP):c.7279C>A (p.Leu2427Met) rs555784793 0.00001
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn) rs755448403 0.00001
NM_004415.4(DSP):c.7390C>T (p.Arg2464Cys) rs778822920 0.00001
NM_004415.4(DSP):c.7396G>A (p.Val2466Met) rs745862520 0.00001
NM_004415.4(DSP):c.7433C>T (p.Ser2478Phe) rs1759570987 0.00001
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg) rs1346398330 0.00001
NM_004415.4(DSP):c.7501T>C (p.Cys2501Arg) rs776405018 0.00001
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr) rs772574987 0.00001
NM_004415.4(DSP):c.7562A>G (p.Asp2521Gly) rs758490440 0.00001
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys) rs746932951 0.00001
NM_004415.4(DSP):c.7618G>A (p.Asp2540Asn) rs761136328 0.00001
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe) rs1490279963 0.00001
NM_004415.4(DSP):c.7694A>C (p.Asn2565Thr) rs769572594 0.00001
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) rs751712837 0.00001
NM_004415.4(DSP):c.7767A>G (p.Ser2589=) rs755928079 0.00001
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser) rs563272509 0.00001
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala) rs1170072296 0.00001
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile) rs772951950 0.00001
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val) rs1301635888 0.00001
NM_004415.4(DSP):c.7819A>G (p.Ser2607Gly) rs1371480664 0.00001
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu) rs571577908 0.00001
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308 0.00001
NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys) rs756976948 0.00001
NM_004415.4(DSP):c.7910T>C (p.Ile2637Thr) rs1229128923 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu) rs1064793890 0.00001
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro) rs1060500612 0.00001
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser) rs1371748682 0.00001
NM_004415.4(DSP):c.8050A>G (p.Met2684Val) rs147801650 0.00001
NM_004415.4(DSP):c.8053G>T (p.Ala2685Ser) rs760754021 0.00001
NM_004415.4(DSP):c.809G>A (p.Arg270Gln) rs1203795810 0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp) rs375348086 0.00001
NM_004415.4(DSP):c.8137G>A (p.Val2713Met) rs1219478425 0.00001
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile) rs727504569 0.00001
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe) rs367972703 0.00001
NM_004415.4(DSP):c.8162A>G (p.Glu2721Gly) rs1324438820 0.00001
NM_004415.4(DSP):c.8197A>T (p.Thr2733Ser) rs1157650702 0.00001
NM_004415.4(DSP):c.8210T>C (p.Val2737Ala) rs794728155 0.00001
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu) rs761527198 0.00001
NM_004415.4(DSP):c.8221G>A (p.Val2741Met) rs779485431 0.00001
NM_004415.4(DSP):c.8253C>G (p.Ile2751Met) rs1165200201 0.00001
NM_004415.4(DSP):c.8330C>A (p.Pro2777His) rs376273136 0.00001
NM_004415.4(DSP):c.8389A>G (p.Ile2797Val) rs1040353645 0.00001
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe) rs201271117 0.00001
NM_004415.4(DSP):c.844G>A (p.Glu282Lys) rs397516966 0.00001
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) rs139969658 0.00001
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val) rs397516970 0.00001
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys) rs767961179 0.00001
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr) rs148550678 0.00001
NM_004415.4(DSP):c.8606T>C (p.Ile2869Thr) rs1759656543 0.00001
NM_004415.4(DSP):c.917C>G (p.Ala306Gly) rs1758833983 0.00001
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777 0.00001
NM_004415.4(DSP):c.976C>T (p.Leu326Phe) rs117961973 0.00001
NM_004985.5(KRAS):c.407G>A (p.Ser136Asn) rs757816355 0.00001
NM_004985.5(KRAS):c.487A>G (p.Ile163Val) rs1470495974 0.00001
NM_014112.5(TRPS1):c.2060T>C (p.Ile687Thr) rs774019004 0.00001
NM_014112.5(TRPS1):c.2647T>A (p.Tyr883Asn) rs1039993281 0.00001
NM_014112.5(TRPS1):c.2823G>A (p.Ser941=) rs774932870 0.00001
NM_014112.5(TRPS1):c.3846C>A (p.Asn1282Lys) rs1343541017 0.00001
NM_014112.5(TRPS1):c.3855A>C (p.Gln1285His) rs1335170890 0.00001
NM_014112.5(TRPS1):c.457G>A (p.Ala153Thr) rs570746805 0.00001
NM_014112.5(TRPS1):c.822C>G (p.Asp274Glu) rs374893780 0.00001
NM_014112.5(TRPS1):c.988A>G (p.Ile330Val) rs748358474 0.00001
NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423 0.00001
NM_015559.3(SETBP1):c.1051G>T (p.Asp351Tyr) rs370610721 0.00001
NM_015559.3(SETBP1):c.165G>A (p.Met55Ile) rs778818507 0.00001
NM_015559.3(SETBP1):c.3632A>G (p.Lys1211Arg) rs144471715 0.00001
NM_017838.4(NHP2):c.161-2A>T rs766032992 0.00001
NM_017838.4(NHP2):c.182G>A (p.Arg61Gln) rs769920343 0.00001
NM_017838.4(NHP2):c.215A>G (p.Asn72Ser) rs1756325870 0.00001
NM_017838.4(NHP2):c.236T>C (p.Met79Thr) rs1426285845 0.00001
NM_017838.4(NHP2):c.25G>A (p.Asp9Asn) rs769331750 0.00001
NM_017838.4(NHP2):c.292T>G (p.Cys98Gly) rs201129701 0.00001
NM_017838.4(NHP2):c.336G>A (p.Thr112=) rs746472214 0.00001
NM_017838.4(NHP2):c.434A>T (p.Glu145Val) rs143501297 0.00001
NM_017838.4(NHP2):c.439C>A (p.Gln147Lys) rs779452625 0.00001
NM_017838.4(NHP2):c.449C>A (p.Pro150His) rs1401974529 0.00001
NM_017838.4(NHP2):c.67A>G (p.Thr23Ala) rs1196159721 0.00001
NM_018648.4(NOP10):c.*108T>C rs1890481506 0.00001
NM_018648.4(NOP10):c.179C>T (p.Pro60Leu) rs765367178 0.00001
NM_018648.4(NOP10):c.75A>T (p.Gln25His) rs368082745 0.00001
NM_020529.3(NFKBIA):c.117C>G (p.Asp39Glu) rs753085459 0.00001
NM_020529.3(NFKBIA):c.11C>T (p.Ala4Val) rs1394403932 0.00001
NM_020529.3(NFKBIA):c.16G>A (p.Glu6Lys) rs923187160 0.00001
NM_020529.3(NFKBIA):c.194C>T (p.Pro65Leu) rs756648390 0.00001
NM_020529.3(NFKBIA):c.283C>T (p.Arg95Cys) rs779105881 0.00001
NM_020529.3(NFKBIA):c.299A>G (p.Asp100Gly) rs753891384 0.00001
NM_020529.3(NFKBIA):c.320A>G (p.Gln107Arg) rs1430171440 0.00001
NM_020529.3(NFKBIA):c.341C>T (p.Pro114Leu) rs760056320 0.00001
NM_020529.3(NFKBIA):c.437C>T (p.Thr146Ile) rs753691609 0.00001
NM_020529.3(NFKBIA):c.477C>A (p.Ser159Arg) rs199877737 0.00001
NM_020529.3(NFKBIA):c.682C>G (p.Gln228Glu) rs1227706340 0.00001
NM_020529.3(NFKBIA):c.742T>C (p.Tyr248His) rs2052739616 0.00001
NM_020529.3(NFKBIA):c.790C>T (p.Arg264Trp) rs747273949 0.00001
NM_020529.3(NFKBIA):c.853G>A (p.Asp285Asn) rs1448842981 0.00001
NM_020529.3(NFKBIA):c.887C>T (p.Thr296Met) rs201191831 0.00001
NM_020529.3(NFKBIA):c.944T>G (p.Leu315Arg) rs761313156 0.00001
NM_020639.3(RIPK4):c.*1376C>T rs938071196 0.00001
NM_020639.3(RIPK4):c.*142G>A rs886057086 0.00001
NM_020639.3(RIPK4):c.*298A>G rs1325503303 0.00001
NM_020639.3(RIPK4):c.*729C>T rs886057084 0.00001
NM_020639.3(RIPK4):c.*72C>T rs1193530619 0.00001
NM_020639.3(RIPK4):c.*824C>T rs1413927849 0.00001
NM_020639.3(RIPK4):c.1106A>G (p.Lys369Arg) rs377595424 0.00001
NM_020639.3(RIPK4):c.1477C>T (p.Arg493Trp) rs745574177 0.00001
NM_020639.3(RIPK4):c.2001C>G (p.Thr667=) rs759122850 0.00001
NM_020639.3(RIPK4):c.271C>A (p.Pro91Thr) rs886057089 0.00001
NM_020639.3(RIPK4):c.377C>T (p.Ala126Val) rs773242499 0.00001
NM_020639.3(RIPK4):c.899A>T (p.Asp300Val) rs1479686520 0.00001
NM_020779.4(WDR35):c.*2228C>T rs1669828408 0.00001
NM_020779.4(WDR35):c.*2288C>T rs886055398 0.00001
NM_020779.4(WDR35):c.*2725G>T rs886055396 0.00001
NM_020779.4(WDR35):c.*2726A>G rs886055395 0.00001
NM_020779.4(WDR35):c.*2748G>T rs886055394 0.00001
NM_020779.4(WDR35):c.*380G>A rs886055401 0.00001
NM_020779.4(WDR35):c.*747C>T rs1451842817 0.00001
NM_020779.4(WDR35):c.1088C>T (p.Thr363Met) rs200341288 0.00001
NM_020779.4(WDR35):c.10T>C (p.Tyr4His) rs772365561 0.00001
NM_020779.4(WDR35):c.1104A>G (p.Lys368=) rs745634789 0.00001
NM_020779.4(WDR35):c.1220T>C (p.Ile407Thr) rs780584500 0.00001
NM_020779.4(WDR35):c.1276A>G (p.Thr426Ala) rs1371644144 0.00001
NM_020779.4(WDR35):c.1310C>T (p.Ala437Val) rs1671332812 0.00001
NM_020779.4(WDR35):c.1348A>C (p.Thr450Pro) rs771656961 0.00001
NM_020779.4(WDR35):c.1470+6T>C rs1162916086 0.00001
NM_020779.4(WDR35):c.1526G>T (p.Gly509Val) rs398123536 0.00001
NM_020779.4(WDR35):c.1662A>T (p.Gly554=) rs767878828 0.00001
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser) rs139252416 0.00001
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala) rs758919526 0.00001
NM_020779.4(WDR35):c.1991G>A (p.Arg664Gln) rs750367225 0.00001
NM_020779.4(WDR35):c.2165G>A (p.Arg722His) rs758991146 0.00001
NM_020779.4(WDR35):c.2194A>C (p.Lys732Gln) rs748476979 0.00001
NM_020779.4(WDR35):c.2220C>T (p.Phe740=) rs535522970 0.00001
NM_020779.4(WDR35):c.2267+9T>C rs376307803 0.00001
NM_020779.4(WDR35):c.2268-11T>G rs745664606 0.00001
NM_020779.4(WDR35):c.2298G>A (p.Leu766=) rs1287745296 0.00001
NM_020779.4(WDR35):c.2524C>T (p.Pro842Ser) rs777217654 0.00001
NM_020779.4(WDR35):c.2555C>T (p.Ala852Val) rs772896944 0.00001
NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly) rs199849430 0.00001
NM_020779.4(WDR35):c.2672T>C (p.Val891Ala) rs370706293 0.00001
NM_020779.4(WDR35):c.2779C>T (p.Arg927Trp) rs149815363 0.00001
NM_020779.4(WDR35):c.2780G>A (p.Arg927Gln) rs754997630 0.00001
NM_020779.4(WDR35):c.2879A>G (p.Tyr960Cys) rs397515535 0.00001
NM_020779.4(WDR35):c.2900T>C (p.Ile967Thr) rs776936691 0.00001
NM_020779.4(WDR35):c.308G>T (p.Gly103Val) rs886055406 0.00001
NM_020779.4(WDR35):c.3122-3T>C rs751769266 0.00001
NM_020779.4(WDR35):c.3190G>A (p.Ala1064Thr) rs759338583 0.00001
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys) rs978909925 0.00001
NM_020779.4(WDR35):c.485T>C (p.Val162Ala) rs754439440 0.00001
NM_020779.4(WDR35):c.626G>A (p.Gly209Glu) rs1410550467 0.00001
NM_020779.4(WDR35):c.722A>G (p.His241Arg) rs138366348 0.00001
NM_020779.4(WDR35):c.847G>A (p.Val283Met) rs576085633 0.00001
NM_020779.4(WDR35):c.976A>G (p.Ile326Val) rs1438742194 0.00001
NM_022336.4(EDAR):c.*1298G>C rs1696567664 0.00001
NM_022336.4(EDAR):c.*1703G>A rs1459775112 0.00001
NM_022336.4(EDAR):c.*1761G>A rs886054737 0.00001
NM_022336.4(EDAR):c.*242T>C rs1398672274 0.00001
NM_022336.4(EDAR):c.*602T>A rs886054742 0.00001
NM_022336.4(EDAR):c.-71C>G rs1207037322 0.00001
NM_022336.4(EDAR):c.1006G>A (p.Val336Met) rs1300767499 0.00001
NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter) rs758536902 0.00001
NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile) rs899642068 0.00001
NM_022336.4(EDAR):c.186C>T (p.Tyr62=) rs751600128 0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) rs121908451 0.00001
NM_022336.4(EDAR):c.560C>T (p.Ala187Val) rs1411472080 0.00001
NM_022336.4(EDAR):c.569T>C (p.Ile190Thr) rs1696920814 0.00001
NM_022336.4(EDAR):c.606C>T (p.Ile202=) rs201950451 0.00001
NM_022336.4(EDAR):c.71C>A (p.Ala24Asp) rs1306259287 0.00001
NM_022836.4(DCLRE1B):c.1181T>G (p.Leu394Trp) rs758926583 0.00001
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp) rs774397708 0.00001
NM_022836.4(DCLRE1B):c.1433G>T (p.Gly478Val) rs781509316 0.00001
NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg) rs748342283 0.00001
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala) rs770692934 0.00001
NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg) rs1439653012 0.00001
NM_022836.4(DCLRE1B):c.280C>T (p.Leu94Phe) rs758475213 0.00001
NM_022836.4(DCLRE1B):c.524A>G (p.His175Arg) rs375674908 0.00001
NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln) rs1401066315 0.00001
NM_022836.4(DCLRE1B):c.752C>T (p.Thr251Met) rs745991382 0.00001
NM_022836.4(DCLRE1B):c.781A>G (p.Ile261Val) rs1478635543 0.00001
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile) rs921843370 0.00001
NM_022836.4(DCLRE1B):c.899G>A (p.Arg300Gln) rs1216262296 0.00001
NM_024589.3(ROGDI):c.*208G>A rs2082661454 0.00001
NM_024589.3(ROGDI):c.*246G>A rs1039786573 0.00001
NM_024589.3(ROGDI):c.*451C>G rs886052034 0.00001
NM_024589.3(ROGDI):c.118-3C>T rs144168578 0.00001
NM_024589.3(ROGDI):c.149C>G (p.Ser50Cys) rs2082719118 0.00001
NM_024589.3(ROGDI):c.151G>A (p.Gly51Ser) rs768939862 0.00001
NM_024589.3(ROGDI):c.154A>G (p.Thr52Ala) rs747235473 0.00001
NM_024589.3(ROGDI):c.155C>T (p.Thr52Ile) rs779951541 0.00001
NM_024589.3(ROGDI):c.190G>A (p.Gly64Ser) rs901817632 0.00001
NM_024589.3(ROGDI):c.215A>G (p.Lys72Arg) rs779096456 0.00001
NM_024589.3(ROGDI):c.254C>T (p.Ala85Val) rs748119074 0.00001
NM_024589.3(ROGDI):c.274C>A (p.Pro92Thr) rs143620755 0.00001
NM_024589.3(ROGDI):c.302C>G (p.Ala101Gly) rs1343790004 0.00001
NM_024589.3(ROGDI):c.308G>A (p.Arg103Gln) rs552833661 0.00001
NM_024589.3(ROGDI):c.313G>A (p.Asp105Asn) rs368831986 0.00001
NM_024589.3(ROGDI):c.318G>C (p.Lys106Asn) rs1239643038 0.00001
NM_024589.3(ROGDI):c.344A>G (p.Asp115Gly) rs771509465 0.00001
NM_024589.3(ROGDI):c.347C>G (p.Ala116Gly) rs1060502982 0.00001
NM_024589.3(ROGDI):c.349A>G (p.Arg117Gly) rs1434946457 0.00001
NM_024589.3(ROGDI):c.34C>T (p.Arg12Trp) rs867005426 0.00001
NM_024589.3(ROGDI):c.374A>C (p.Tyr125Ser) rs1190821261 0.00001
NM_024589.3(ROGDI):c.391G>C (p.Asp131His) rs1235377184 0.00001
NM_024589.3(ROGDI):c.427C>T (p.Leu143Phe) rs985601573 0.00001
NM_024589.3(ROGDI):c.445G>C (p.Val149Leu) rs1248019368 0.00001
NM_024589.3(ROGDI):c.470G>A (p.Arg157Gln) rs780893164 0.00001
NM_024589.3(ROGDI):c.490G>A (p.Ala164Thr) rs760780110 0.00001
NM_024589.3(ROGDI):c.507C>T (p.Pro169=) rs767771299 0.00001
NM_024589.3(ROGDI):c.508G>A (p.Glu170Lys) rs575700252 0.00001
NM_024589.3(ROGDI):c.514G>A (p.Ala172Thr) rs201213891 0.00001
NM_024589.3(ROGDI):c.531G>A (p.Thr177=) rs930841516 0.00001
NM_024589.3(ROGDI):c.591C>G (p.Asn197Lys) rs551129970 0.00001
NM_024589.3(ROGDI):c.615G>T (p.Gln205His) rs148557909 0.00001
NM_024589.3(ROGDI):c.623C>T (p.Ala208Val) rs745998638 0.00001
NM_024589.3(ROGDI):c.631C>A (p.Pro211Thr) rs943573881 0.00001
NM_024589.3(ROGDI):c.645+3G>A rs990386555 0.00001
NM_024589.3(ROGDI):c.661G>C (p.Gly221Arg) rs757872277 0.00001
NM_024589.3(ROGDI):c.665G>A (p.Gly222Asp) rs1317312771 0.00001
NM_024589.3(ROGDI):c.695T>C (p.Phe232Ser) rs776235683 0.00001
NM_024589.3(ROGDI):c.712C>T (p.Arg238Cys) rs760809797 0.00001
NM_024589.3(ROGDI):c.730G>A (p.Val244Met) rs748820137 0.00001
NM_024589.3(ROGDI):c.740T>A (p.Val247Glu) rs1319338750 0.00001
NM_024589.3(ROGDI):c.748G>A (p.Val250Met) rs749565672 0.00001
NM_024589.3(ROGDI):c.753C>T (p.Ile251=) rs144581570 0.00001
NM_024589.3(ROGDI):c.755C>G (p.Pro252Arg) rs1276539581 0.00001
NM_024589.3(ROGDI):c.766G>A (p.Asp256Asn) rs1161402172 0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) rs749782882 0.00001
NM_024589.3(ROGDI):c.797A>G (p.Gln266Arg) rs2082669298 0.00001
NM_024589.3(ROGDI):c.838A>G (p.Ser280Gly) rs777114840 0.00001
NM_024589.3(ROGDI):c.85G>A (p.Ala29Thr) rs376839753 0.00001
NM_024589.3(ROGDI):c.88G>T (p.Val30Leu) rs751917059 0.00001
NM_025099.6(CTC1):c.*1061C>T rs1240025210 0.00001
NM_025099.6(CTC1):c.*1204T>C rs886053602 0.00001
NM_025099.6(CTC1):c.*1565A>G rs886053598 0.00001
NM_025099.6(CTC1):c.*1578T>A rs535373058 0.00001
NM_025099.6(CTC1):c.*1939G>A rs886053593 0.00001
NM_025099.6(CTC1):c.*1994A>G rs897034375 0.00001
NM_025099.6(CTC1):c.*2337G>A rs1311396995 0.00001
NM_025099.6(CTC1):c.*286G>A rs886053606 0.00001
NM_025099.6(CTC1):c.*305G>A rs1161700028 0.00001
NM_025099.6(CTC1):c.*384G>A rs912438390 0.00001
NM_025099.6(CTC1):c.*509C>T rs758527781 0.00001
NM_025099.6(CTC1):c.*759A>G rs1986820804 0.00001
NM_025099.6(CTC1):c.100C>T (p.Pro34Ser) rs374857685 0.00001
NM_025099.6(CTC1):c.1077+6C>T rs199696637 0.00001
NM_025099.6(CTC1):c.1078-13G>A rs200325111 0.00001
NM_025099.6(CTC1):c.1092C>T (p.Gly364=) rs761668228 0.00001
NM_025099.6(CTC1):c.1094T>C (p.Val365Ala) rs763967881 0.00001
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His) rs1200884099 0.00001
NM_025099.6(CTC1):c.1165C>T (p.Arg389Cys) rs780333162 0.00001
NM_025099.6(CTC1):c.1184T>C (p.Met395Thr) rs1417486388 0.00001
NM_025099.6(CTC1):c.1187G>A (p.Arg396Gln) rs1478316787 0.00001
NM_025099.6(CTC1):c.1199G>A (p.Cys400Tyr) rs1483913680 0.00001
NM_025099.6(CTC1):c.1219C>A (p.His407Asn) rs1286168861 0.00001
NM_025099.6(CTC1):c.1277G>A (p.Arg426His) rs1215600600 0.00001
NM_025099.6(CTC1):c.1279G>A (p.Gly427Ser) rs749511585 0.00001
NM_025099.6(CTC1):c.1282G>A (p.Ala428Thr) rs1382263305 0.00001
NM_025099.6(CTC1):c.1285G>A (p.Val429Ile) rs191350236 0.00001
NM_025099.6(CTC1):c.1297A>G (p.Ser433Gly) rs1391872586 0.00001
NM_025099.6(CTC1):c.1306C>T (p.Arg436Cys) rs764414504 0.00001
NM_025099.6(CTC1):c.1360G>A (p.Glu454Lys) rs774972007 0.00001
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly) rs747887601 0.00001
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183 0.00001
NM_025099.6(CTC1):c.1528A>G (p.Thr510Ala) rs578120516 0.00001
NM_025099.6(CTC1):c.1547C>T (p.Pro516Leu) rs747574053 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.1613A>G (p.Gln538Arg) rs1371252082 0.00001
NM_025099.6(CTC1):c.1646T>C (p.Phe549Ser) rs1019443155 0.00001
NM_025099.6(CTC1):c.1673A>G (p.Glu558Gly) rs371121503 0.00001
NM_025099.6(CTC1):c.1697C>G (p.Ser566Cys) rs1351692819 0.00001
NM_025099.6(CTC1):c.1756C>G (p.Leu586Val) rs760274760 0.00001
NM_025099.6(CTC1):c.1759A>C (p.Asn587His) rs774920348 0.00001
NM_025099.6(CTC1):c.1801G>A (p.Ala601Thr) rs963962577 0.00001
NM_025099.6(CTC1):c.1819-14T>G rs753627056 0.00001
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp) rs759039504 0.00001
NM_025099.6(CTC1):c.1871G>A (p.Arg624Gln) rs377423237 0.00001
NM_025099.6(CTC1):c.1909A>G (p.Lys637Glu) rs773628396 0.00001
NM_025099.6(CTC1):c.1937G>A (p.Arg646Gln) rs1243670945 0.00001
NM_025099.6(CTC1):c.1974G>T (p.Gln658His) rs779228652 0.00001
NM_025099.6(CTC1):c.1993G>A (p.Val665Met) rs751450242 0.00001
NM_025099.6(CTC1):c.2008C>T (p.Pro670Ser) rs750104621 0.00001
NM_025099.6(CTC1):c.2089G>A (p.Ala697Thr) rs778524852 0.00001
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr) rs1567604032 0.00001
NM_025099.6(CTC1):c.2141C>T (p.Thr714Ile) rs547897675 0.00001
NM_025099.6(CTC1):c.21G>C (p.Gln7His) rs370153216 0.00001
NM_025099.6(CTC1):c.221A>G (p.Lys74Arg) rs774606496 0.00001
NM_025099.6(CTC1):c.2230C>T (p.Arg744Cys) rs752134243 0.00001
NM_025099.6(CTC1):c.2249C>A (p.Pro750Gln) rs1417430299 0.00001
NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys) rs376729433 0.00001
NM_025099.6(CTC1):c.2312G>A (p.Gly771Glu) rs1287605629 0.00001
NM_025099.6(CTC1):c.2329G>C (p.Glu777Gln) rs753665719 0.00001
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp) rs1427706121 0.00001
NM_025099.6(CTC1):c.2356C>A (p.Pro786Thr) rs1026203083 0.00001
NM_025099.6(CTC1):c.2386-10A>G rs746382653 0.00001
NM_025099.6(CTC1):c.2416C>T (p.Arg806Cys) rs758151645 0.00001
NM_025099.6(CTC1):c.2417G>A (p.Arg806His) rs750387015 0.00001
NM_025099.6(CTC1):c.2421G>T (p.Trp807Cys) rs765221206 0.00001
NM_025099.6(CTC1):c.2437C>T (p.Pro813Ser) rs776324067 0.00001
NM_025099.6(CTC1):c.2438C>T (p.Pro813Leu) rs764138772 0.00001
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730 0.00001
NM_025099.6(CTC1):c.2477C>A (p.Thr826Lys) rs757061571 0.00001
NM_025099.6(CTC1):c.2564A>G (p.Gln855Arg) rs1226186528 0.00001
NM_025099.6(CTC1):c.2576C>T (p.Thr859Ile) rs754425018 0.00001
NM_025099.6(CTC1):c.25C>T (p.Pro9Ser) rs1034774367 0.00001
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu) rs761241839 0.00001
NM_025099.6(CTC1):c.2698G>A (p.Ala900Thr) rs371670247 0.00001
NM_025099.6(CTC1):c.26C>G (p.Pro9Arg) rs377386669 0.00001
NM_025099.6(CTC1):c.2729C>A (p.Pro910His) rs532454635 0.00001
NM_025099.6(CTC1):c.275A>G (p.Tyr92Cys) rs753289258 0.00001
NM_025099.6(CTC1):c.2765C>T (p.Thr922Met) rs760623153 0.00001
NM_025099.6(CTC1):c.286G>T (p.Ala96Ser) rs751570124 0.00001
NM_025099.6(CTC1):c.2897G>A (p.Arg966Gln) rs759485791 0.00001
NM_025099.6(CTC1):c.28T>A (p.Ser10Thr) rs781595383 0.00001
NM_025099.6(CTC1):c.2972A>G (p.Tyr991Cys) rs1471047572 0.00001
NM_025099.6(CTC1):c.2993C>T (p.Pro998Leu) rs368344044 0.00001
NM_025099.6(CTC1):c.2996C>A (p.Pro999His) rs780572571 0.00001
NM_025099.6(CTC1):c.2996C>T (p.Pro999Leu) rs780572571 0.00001
NM_025099.6(CTC1):c.3113A>G (p.Gln1038Arg) rs1486092046 0.00001
NM_025099.6(CTC1):c.3157-3C>T rs1010558106 0.00001
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385 0.00001
NM_025099.6(CTC1):c.3221G>A (p.Arg1074Lys) rs751960515 0.00001
NM_025099.6(CTC1):c.3269A>G (p.Asn1090Ser) rs368562418 0.00001
NM_025099.6(CTC1):c.3273C>A (p.His1091Gln) rs564631876 0.00001
NM_025099.6(CTC1):c.3293G>A (p.Gly1098Glu) rs1986954991 0.00001
NM_025099.6(CTC1):c.3305G>A (p.Arg1102Lys) rs372789589 0.00001
NM_025099.6(CTC1):c.3323T>C (p.Leu1108Pro) rs1445322884 0.00001
NM_025099.6(CTC1):c.3369G>T (p.Gly1123=) rs759771248 0.00001
NM_025099.6(CTC1):c.3400G>T (p.Val1134Phe) rs1446511863 0.00001
NM_025099.6(CTC1):c.3403G>A (p.Asp1135Asn) rs755212243 0.00001
NM_025099.6(CTC1):c.3406G>A (p.Glu1136Lys) rs761553012 0.00001
NM_025099.6(CTC1):c.3420G>A (p.Met1140Ile) rs554183453 0.00001
NM_025099.6(CTC1):c.3458G>A (p.Arg1153His) rs748674791 0.00001
NM_025099.6(CTC1):c.3514+3A>G rs759039342 0.00001
NM_025099.6(CTC1):c.3523C>T (p.Arg1175Trp) rs747504166 0.00001
NM_025099.6(CTC1):c.3620C>T (p.Ser1207Phe) rs892408695 0.00001
NM_025099.6(CTC1):c.367G>T (p.Asp123Tyr) rs777260624 0.00001
NM_025099.6(CTC1):c.37C>G (p.Gln13Glu) rs767073205 0.00001
NM_025099.6(CTC1):c.421G>A (p.Val141Ile) rs532695142 0.00001
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu) rs542910040 0.00001
NM_025099.6(CTC1):c.485G>A (p.Arg162His) rs199966003 0.00001
NM_025099.6(CTC1):c.505G>A (p.Ala169Thr) rs757366100 0.00001
NM_025099.6(CTC1):c.553C>G (p.Pro185Ala) rs766180217 0.00001
NM_025099.6(CTC1):c.592G>A (p.Val198Ile) rs989763856 0.00001
NM_025099.6(CTC1):c.595A>C (p.Thr199Pro) rs1221916551 0.00001
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser) rs772395506 0.00001
NM_025099.6(CTC1):c.599C>T (p.Pro200Leu) rs1456198284 0.00001
NM_025099.6(CTC1):c.5C>A (p.Ala2Glu) rs749391693 0.00001
NM_025099.6(CTC1):c.740T>C (p.Leu247Pro) rs774742711 0.00001
NM_025099.6(CTC1):c.770C>T (p.Thr257Ile) rs1007776903 0.00001
NM_025099.6(CTC1):c.780C>T (p.Ser260=) rs769988270 0.00001
NM_025099.6(CTC1):c.793-13C>G rs957555496 0.00001
NM_025099.6(CTC1):c.79C>G (p.Leu27Val) rs369069450 0.00001
NM_025099.6(CTC1):c.817A>G (p.Arg273Gly) rs370483878 0.00001
NM_025099.6(CTC1):c.855A>C (p.Glu285Asp) rs1987719230 0.00001
NM_025099.6(CTC1):c.883C>T (p.Arg295Cys) rs373549661 0.00001
NM_025099.6(CTC1):c.888G>T (p.Gln296His) rs199553763 0.00001
NM_025099.6(CTC1):c.917G>A (p.Arg306His) rs567779457 0.00001
NM_025099.6(CTC1):c.949G>C (p.Glu317Gln) rs1480736168 0.00001
NM_025099.6(CTC1):c.992C>G (p.Pro331Arg) rs765673141 0.00001
NM_025099.6(CTC1):c.995A>G (p.Lys332Arg) rs937598790 0.00001
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala) rs745627337 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) rs537283735 0.00001
NM_025132.4(WDR19):c.164+12A>G rs776617179 0.00001
NM_025132.4(WDR19):c.1716A>G (p.Val572=) rs1730484886 0.00001
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys) rs780273002 0.00001
NM_025132.4(WDR19):c.1932G>A (p.Thr644=) rs886059398 0.00001
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile) rs746795141 0.00001
NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr) rs1024499799 0.00001
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr) rs780879248 0.00001
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser) rs370948119 0.00001
NM_025132.4(WDR19):c.2095C>T (p.Arg699Trp) rs886042728 0.00001
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile) rs1157984983 0.00001
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp) rs1170632040 0.00001
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val) rs746141233 0.00001
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr) rs1407602801 0.00001
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile) rs757105603 0.00001
NM_025132.4(WDR19):c.291-12_291-11del rs1324399102 0.00001
NM_025132.4(WDR19):c.2948C>T (p.Ala983Val) rs1293022423 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser) rs759424617 0.00001
NM_025132.4(WDR19):c.3114+3T>C rs1275093466 0.00001
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu) rs763748984 0.00001
NM_025132.4(WDR19):c.3188G>A (p.Gly1063Asp) rs760222006 0.00001
NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp) rs369310189 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn) rs767727756 0.00001
NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr) rs778261943 0.00001
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met) rs368286694 0.00001
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val) rs571331592 0.00001
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) rs1035768119 0.00001
NM_025132.4(WDR19):c.389G>A (p.Arg130Gln) rs747065633 0.00001
NM_025132.4(WDR19):c.404T>C (p.Leu135Pro) rs1361187656 0.00001
NM_025132.4(WDR19):c.410A>G (p.Lys137Arg) rs763605734 0.00001
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925 0.00001
NM_025132.4(WDR19):c.6+3A>G rs1415721879 0.00001
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala) rs757241775 0.00001
NM_025132.4(WDR19):c.8G>A (p.Arg3His) rs922584346 0.00001
NM_025132.4(WDR19):c.935T>C (p.Ile312Thr) rs886059396 0.00001
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys) rs1729012449 0.00001
NM_025216.2(WNT10A):c.-153G>A rs886055640 0.00001
NM_025216.3(WNT10A):c.*238C>T rs1176499706 0.00001
NM_025216.3(WNT10A):c.-70G>C rs1042922024 0.00001
NM_025216.3(WNT10A):c.1061C>T (p.Ser354Leu) rs781178898 0.00001
NM_025216.3(WNT10A):c.1162C>T (p.Arg388Cys) rs1186983054 0.00001
NM_025216.3(WNT10A):c.212A>T (p.Gln71Leu) rs368943130 0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759 0.00001
NM_025216.3(WNT10A):c.403G>A (p.Ala135Thr) rs1402990329 0.00001
NM_025216.3(WNT10A):c.443C>T (p.Ala148Val) rs373695499 0.00001
NM_025216.3(WNT10A):c.519G>T (p.Lys173Asn) rs758023820 0.00001
NM_025216.3(WNT10A):c.526C>T (p.Arg176Cys) rs754010310 0.00001
NM_025216.3(WNT10A):c.650A>G (p.Asp217Gly) rs1057520655 0.00001
NM_025216.3(WNT10A):c.652A>G (p.Met218Val) rs373991357 0.00001
NM_025216.3(WNT10A):c.670T>C (p.Phe224Leu) rs749857233 0.00001
NM_025216.3(WNT10A):c.695G>A (p.Arg232Gln) rs772154760 0.00001
NM_025216.3(WNT10A):c.697G>A (p.Glu233Lys) rs121908118 0.00001
NM_025216.3(WNT10A):c.756G>A (p.Gln252=) rs768536054 0.00001
NM_025216.3(WNT10A):c.7A>T (p.Ser3Cys) rs1324234734 0.00001
NM_025216.3(WNT10A):c.831G>T (p.Trp277Cys) rs1234227647 0.00001
NM_025216.3(WNT10A):c.838A>T (p.Thr280Ser) rs886055643 0.00001
NM_025216.3(WNT10A):c.910A>C (p.Asn304His) rs1434390821 0.00001
NM_025216.3(WNT10A):c.959C>G (p.Pro320Arg) rs974508350 0.00001
NM_030662.4(MAP2K2):c.1006G>A (p.Gly336Ser) rs1599282416 0.00001
NM_030662.4(MAP2K2):c.1036G>A (p.Val346Ile) rs1015139062 0.00001
NM_030662.4(MAP2K2):c.1092A>C (p.Thr364=) rs779378237 0.00001
NM_030662.4(MAP2K2):c.247G>A (p.Gly83Ser) rs765755554 0.00001
NM_030662.4(MAP2K2):c.457G>A (p.Gly153Ser) rs772534863 0.00001
NM_030662.4(MAP2K2):c.553C>T (p.Arg185Ter) rs1390219813 0.00001
NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn) rs2041001051 0.00001
NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn) rs758031424 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_030662.4(MAP2K2):c.842G>A (p.Arg281Gln) rs1332074575 0.00001
NM_030662.4(MAP2K2):c.907C>T (p.Arg303Cys) rs770521279 0.00001
NM_030662.4(MAP2K2):c.913G>A (p.Val305Ile) rs730880509 0.00001
NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp) rs772831628 0.00001
NM_030662.4(MAP2K2):c.971A>G (p.Tyr324Cys) rs730880512 0.00001
NM_032208.3(ANTXR1):c.1105G>A (p.Gly369Ser) rs769332274 0.00001
NM_033360.4(KRAS):c.*1777A>G rs886049193 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_052989.3(IFT122):c.1009G>C (p.Val337Leu) rs769712676 0.00001
NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn) rs768644199 0.00001
NM_052989.3(IFT122):c.1067A>C (p.His356Pro) rs1064796598 0.00001
NM_052989.3(IFT122):c.1190A>G (p.Tyr397Cys) rs965712410 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NM_052989.3(IFT122):c.1487A>G (p.Gln496Arg) rs1203426032 0.00001
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp) rs774723842 0.00001
NM_052989.3(IFT122):c.1851+5C>T rs375595062 0.00001
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.2055G>T (p.Lys685Asn) rs779236550 0.00001
NM_052989.3(IFT122):c.2138A>G (p.Tyr713Cys) rs1332128088 0.00001
NM_052989.3(IFT122):c.2245A>T (p.Met749Leu) rs794727330 0.00001
NM_052989.3(IFT122):c.227G>A (p.Ser76Asn) rs1012943423 0.00001
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr) rs199856807 0.00001
NM_052989.3(IFT122):c.2437A>G (p.Thr813Ala) rs565504126 0.00001
NM_052989.3(IFT122):c.2482T>C (p.Tyr828His) rs1298243007 0.00001
NM_052989.3(IFT122):c.2536C>T (p.Arg846Cys) rs750010740 0.00001
NM_052989.3(IFT122):c.2878C>T (p.Arg960Cys) rs765190529 0.00001
NM_052989.3(IFT122):c.2887-3C>T rs773452716 0.00001
NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser) rs767491295 0.00001
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys) rs774343448 0.00001
NM_052989.3(IFT122):c.3268G>A (p.Val1090Met) rs147517019 0.00001
NM_052989.3(IFT122):c.3446C>T (p.Pro1149Leu) rs373326394 0.00001
NM_052989.3(IFT122):c.349+4C>T rs753626217 0.00001
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser) rs1278478989 0.00001
NM_052989.3(IFT122):c.748C>T (p.Arg250Cys) rs373212863 0.00001
NM_052989.3(IFT122):c.832G>A (p.Ala278Thr) rs773531126 0.00001
NM_052989.3(IFT122):c.877G>A (p.Glu293Lys) rs775510906 0.00001
NM_145861.4(EDARADD):c.*12T>C rs568663942 0.00001
NM_145861.4(EDARADD):c.*1535C>T rs202115969 0.00001
NM_145861.4(EDARADD):c.*1809C>T rs878900513 0.00001
NM_145861.4(EDARADD):c.*1871C>T rs886046197 0.00001
NM_145861.4(EDARADD):c.*719C>T rs188977509 0.00001
NM_145861.4(EDARADD):c.*920C>T rs1242190032 0.00001
NM_145861.4(EDARADD):c.121-6C>G rs1476912628 0.00001
NM_145861.4(EDARADD):c.199A>T (p.Asn67Tyr) rs751704449 0.00001
NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn) rs748587639 0.00001
NM_145861.4(EDARADD):c.587G>A (p.Arg196His) rs483352767 0.00001
NM_147127.5(EVC2):c.*68T>C rs886059470 0.00001
NM_147127.5(EVC2):c.1006-12A>G rs1205381388 0.00001
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser) rs769781725 0.00001
NM_147127.5(EVC2):c.11C>T (p.Ser4Leu) rs1468421367 0.00001
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr) rs1459733035 0.00001
NM_147127.5(EVC2):c.1346G>A (p.Arg449Gln) rs774976776 0.00001
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val) rs774347118 0.00001
NM_147127.5(EVC2):c.1502C>T (p.Thr501Ile) rs1209098952 0.00001
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly) rs766349604 0.00001
NM_147127.5(EVC2):c.1702A>G (p.Lys568Glu) rs769178878 0.00001
NM_147127.5(EVC2):c.1711-6T>A rs780082286 0.00001
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn) rs757316188 0.00001
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys) rs1222356750 0.00001
NM_147127.5(EVC2):c.1852G>A (p.Ala618Thr) rs765933739 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379 0.00001
NM_147127.5(EVC2):c.2023A>G (p.Arg675Gly) rs754390055 0.00001
NM_147127.5(EVC2):c.2075C>A (p.Ser692Tyr) rs1318313186 0.00001
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp) rs532778814 0.00001
NM_147127.5(EVC2):c.2343C>T (p.Gly781=) rs762082443 0.00001
NM_147127.5(EVC2):c.2404G>C (p.Gly802Arg) rs577020845 0.00001
NM_147127.5(EVC2):c.2424G>C (p.Gln808His) rs541956407 0.00001
NM_147127.5(EVC2):c.2706+5G>T rs747272944 0.00001
NM_147127.5(EVC2):c.2707-3C>T rs755042717 0.00001
NM_147127.5(EVC2):c.2758C>T (p.Leu920Phe) rs762404021 0.00001
NM_147127.5(EVC2):c.2776G>A (p.Glu926Lys) rs761946397 0.00001
NM_147127.5(EVC2):c.2876A>T (p.Gln959Leu) rs1228531350 0.00001
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser) rs753942333 0.00001
NM_147127.5(EVC2):c.295C>T (p.Leu99Phe) rs897972159 0.00001
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys) rs779884599 0.00001
NM_147127.5(EVC2):c.3499G>A (p.Val1167Met) rs775202977 0.00001
NM_147127.5(EVC2):c.3508G>A (p.Ala1170Thr) rs748514374 0.00001
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562 0.00001
NM_147127.5(EVC2):c.3579A>C (p.Gln1193His) rs1346353134 0.00001
NM_147127.5(EVC2):c.3604G>A (p.Asp1202Asn) rs752599166 0.00001
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901 0.00001
NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro) rs746578489 0.00001
NM_147127.5(EVC2):c.451-15T>C rs554022197 0.00001
NM_147127.5(EVC2):c.551G>A (p.Arg184His) rs771841841 0.00001
NM_147127.5(EVC2):c.572A>C (p.Asn191Thr) rs754001550 0.00001
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.706+13C>T rs371526145 0.00001
NM_147127.5(EVC2):c.737C>G (p.Ala246Gly) rs765973029 0.00001
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg) rs771493745 0.00001
NM_153717.3(EVC):c.*1008G>A rs1217574266 0.00001
NM_153717.3(EVC):c.*1374G>C rs549720489 0.00001
NM_153717.3(EVC):c.*1446A>G rs754781931 0.00001
NM_153717.3(EVC):c.*1684A>G rs886059515 0.00001
NM_153717.3(EVC):c.*2686G>A rs545215581 0.00001
NM_153717.3(EVC):c.*2922A>C rs886059518 0.00001
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln) rs745640537 0.00001
NM_153717.3(EVC):c.1283C>T (p.Ala428Val) rs1409088904 0.00001
NM_153717.3(EVC):c.1316-10T>A rs1730755993 0.00001
NM_153717.3(EVC):c.136C>T (p.Leu46Phe) rs1246844384 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070 0.00001
NM_153717.3(EVC):c.1638G>T (p.Met546Ile) rs1225766769 0.00001
NM_153717.3(EVC):c.1683C>T (p.Val561=) rs913909906 0.00001
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr) rs926749491 0.00001
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp) rs1373148885 0.00001
NM_153717.3(EVC):c.1821C>G (p.His607Gln) rs779056864 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004 0.00001
NM_153717.3(EVC):c.1942A>G (p.Arg648Gly) rs1418345759 0.00001
NM_153717.3(EVC):c.1955G>A (p.Arg652His) rs765024763 0.00001
NM_153717.3(EVC):c.1957G>A (p.Gly653Ser) rs762716384 0.00001
NM_153717.3(EVC):c.1994C>T (p.Ser665Leu) rs375340438 0.00001
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys) rs367968708 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.2305-5C>G rs760071065 0.00001
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser) rs1395596111 0.00001
NM_153717.3(EVC):c.2522C>T (p.Ala841Val) rs1378303023 0.00001
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160 0.00001
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln) rs930402783 0.00001
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749 0.00001
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser) rs771505230 0.00001
NM_153717.3(EVC):c.27G>C (p.Lys9Asn) rs1474600088 0.00001
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424 0.00001
NM_153717.3(EVC):c.340G>A (p.Ala114Thr) rs756208272 0.00001
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311 0.00001
NM_153717.3(EVC):c.388C>T (p.Leu130=) rs886059496 0.00001
NM_153717.3(EVC):c.49G>A (p.Gly17Arg) rs1722991667 0.00001
NM_153717.3(EVC):c.568C>T (p.Arg190Cys) rs1286815295 0.00001
NM_153717.3(EVC):c.581G>A (p.Arg194Gln) rs777256784 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.835_837del (p.Lys279del) rs761463883 0.00001
NM_153717.3(EVC):c.853A>G (p.Met285Val) rs1464387798 0.00001
NM_153717.3(EVC):c.86C>T (p.Ala29Val) rs1314509668 0.00001
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys) rs1252316234 0.00001
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_198253.3(TERT):c.*339T>C rs920370048 0.00001
NM_198253.3(TERT):c.1013A>G (p.Lys338Arg) rs1393461978 0.00001
NM_198253.3(TERT):c.1028C>G (p.Pro343Arg) rs1233561979 0.00001
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn) rs1279397908 0.00001
NM_198253.3(TERT):c.1073G>A (p.Arg358Gln) rs200191524 0.00001
NM_198253.3(TERT):c.1090A>G (p.Ile364Val) rs748699440 0.00001
NM_198253.3(TERT):c.1141C>G (p.Arg381Gly) rs573210043 0.00001
NM_198253.3(TERT):c.1208G>C (p.Cys403Ser) rs767558514 0.00001
NM_198253.3(TERT):c.1232C>T (p.Thr411Met) rs1262077490 0.00001
NM_198253.3(TERT):c.1253C>T (p.Ala418Val) rs1561213598 0.00001
NM_198253.3(TERT):c.1264G>A (p.Ala422Thr) rs1298013724 0.00001
NM_198253.3(TERT):c.1282C>T (p.Arg428Trp) rs1400139919 0.00001
NM_198253.3(TERT):c.1292C>T (p.Pro431Leu) rs1164823749 0.00001
NM_198253.3(TERT):c.1301C>T (p.Ser434Phe) rs1751138304 0.00001
NM_198253.3(TERT):c.1307C>T (p.Ala436Val) rs986886145 0.00001
NM_198253.3(TERT):c.1323G>T (p.Glu441Asp) rs1213914911 0.00001
NM_198253.3(TERT):c.1324G>A (p.Asp442Asn) rs780427764 0.00001
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly) rs878855299 0.00001
NM_198253.3(TERT):c.1339C>T (p.Arg447Cys) rs1304418053 0.00001
NM_198253.3(TERT):c.1349A>G (p.Gln450Arg) rs1751132215 0.00001
NM_198253.3(TERT):c.1462C>T (p.Leu488Phe) rs746216837 0.00001
NM_198253.3(TERT):c.146C>T (p.Ala49Val) rs1060503013 0.00001
NM_198253.3(TERT):c.1490T>G (p.Leu497Arg) rs1751116306 0.00001
NM_198253.3(TERT):c.1514T>A (p.Leu505Gln) rs1344847833 0.00001
NM_198253.3(TERT):c.1561C>T (p.Arg521Cys) rs1448835821 0.00001
NM_198253.3(TERT):c.1573+6G>T rs1561213199 0.00001
NM_198253.3(TERT):c.1589C>T (p.Pro530Leu) rs369539932 0.00001
NM_198253.3(TERT):c.1604G>A (p.Arg535His) rs768398955 0.00001
NM_198253.3(TERT):c.1609C>T (p.Arg537Cys) rs760352197 0.00001
NM_198253.3(TERT):c.1615G>A (p.Glu539Lys) rs1203927893 0.00001
NM_198253.3(TERT):c.1624G>T (p.Ala542Ser) rs771542084 0.00001
NM_198253.3(TERT):c.1657G>A (p.Val553Ile) rs749051614 0.00001
NM_198253.3(TERT):c.1730G>A (p.Arg577Gln) rs1311034283 0.00001
NM_198253.3(TERT):c.1736G>T (p.Ser579Ile) rs1176093960 0.00001
NM_198253.3(TERT):c.1737T>A (p.Ser579Arg) rs1395379702 0.00001
NM_198253.3(TERT):c.175C>T (p.Pro59Ser) rs1446206464 0.00001
NM_198253.3(TERT):c.1779G>T (p.Leu593Phe) rs199585924 0.00001
NM_198253.3(TERT):c.1796G>A (p.Arg599Gln) rs372511089 0.00001
NM_198253.3(TERT):c.1805C>T (p.Ser602Leu) rs759017540 0.00001
NM_198253.3(TERT):c.1825C>T (p.His609Tyr) rs1263419082 0.00001
NM_198253.3(TERT):c.1880C>G (p.Pro627Arg) rs146439826 0.00001
NM_198253.3(TERT):c.188G>A (p.Arg63Gln) rs1336720402 0.00001
NM_198253.3(TERT):c.189G>A (p.Arg63=) rs1554043134 0.00001
NM_198253.3(TERT):c.1904A>G (p.Asn635Ser) rs1749924823 0.00001
NM_198253.3(TERT):c.1907T>C (p.Met636Thr) rs1060503010 0.00001
NM_198253.3(TERT):c.1915G>A (p.Val639Ile) rs151121796 0.00001
NM_198253.3(TERT):c.1918G>A (p.Val640Met) rs765195721 0.00001
NM_198253.3(TERT):c.1924G>A (p.Ala642Thr) rs761603068 0.00001
NM_198253.3(TERT):c.1937G>A (p.Arg646His) rs779338296 0.00001
NM_198253.3(TERT):c.1939A>C (p.Arg647=) rs144821759 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.2002G>A (p.Glu668Lys) rs1368095577 0.00001
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp) rs372140951 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_198253.3(TERT):c.2015G>A (p.Arg672His) rs1353891039 0.00001
NM_198253.3(TERT):c.2021G>A (p.Gly674Asp) rs1238092784 0.00001
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) rs754809046 0.00001
NM_198253.3(TERT):c.2185A>G (p.Ile729Val) rs753929279 0.00001
NM_198253.3(TERT):c.2213C>T (p.Thr738Met) rs1749789095 0.00001
NM_198253.3(TERT):c.2225G>A (p.Arg742His) rs727503468 0.00001
NM_198253.3(TERT):c.2227C>T (p.Arg743Trp) rs1388515349 0.00001
NM_198253.3(TERT):c.2266C>T (p.Arg756Cys) rs754018580 0.00001
NM_198253.3(TERT):c.2267G>A (p.Arg756His) rs374206276 0.00001
NM_198253.3(TERT):c.2286C>T (p.His762=) rs768062052 0.00001
NM_198253.3(TERT):c.2312C>T (p.Pro771Leu) rs1309399887 0.00001
NM_198253.3(TERT):c.2321G>A (p.Arg774Gln) rs1579564912 0.00001
NM_198253.3(TERT):c.2354C>T (p.Pro785Leu) rs483352771 0.00001
NM_198253.3(TERT):c.2360G>A (p.Arg787Lys) rs1202226678 0.00001
NM_198253.3(TERT):c.2411G>T (p.Gly804Val) rs1442845192 0.00001
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn) rs1169312254 0.00001
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) rs199422301 0.00001
NM_198253.3(TERT):c.2437A>G (p.Met813Val) rs1749002393 0.00001
NM_198253.3(TERT):c.2452G>A (p.Val818Met) rs1046621943 0.00001
NM_198253.3(TERT):c.2455C>T (p.Arg819Cys) rs746621306 0.00001
NM_198253.3(TERT):c.2456G>A (p.Arg819His) rs1343662571 0.00001
NM_198253.3(TERT):c.2465G>A (p.Gly822Asp) rs757820442 0.00001
NM_198253.3(TERT):c.2476G>A (p.Val826Ile) rs1060503009 0.00001
NM_198253.3(TERT):c.2516C>T (p.Thr839Met) rs748503447 0.00001
NM_198253.3(TERT):c.2564C>T (p.Ala855Val) rs775014633 0.00001
NM_198253.3(TERT):c.260G>A (p.Arg87Lys) rs776383511 0.00001
NM_198253.3(TERT):c.2639C>T (p.Ala880Val) rs1748613384 0.00001
NM_198253.3(TERT):c.2644A>T (p.Thr882Ser) rs1263276346 0.00001
NM_198253.3(TERT):c.2655-47_2659dup rs1561193114 0.00001
NM_198253.3(TERT):c.2655G>C (p.Arg885Ser) rs754372863 0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) rs199422304 0.00001
NM_198253.3(TERT):c.2702G>A (p.Arg901Gln) rs772974254 0.00001
NM_198253.3(TERT):c.2776G>A (p.Gly926Ser) rs547377569 0.00001
NM_198253.3(TERT):c.2781A>G (p.Leu927=) rs370292237 0.00001
NM_198253.3(TERT):c.2831G>A (p.Ser944Asn) rs759314942 0.00001
NM_198253.3(TERT):c.2844C>G (p.Ser948Arg) rs34062885 0.00001
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp) rs370445231 0.00001
NM_198253.3(TERT):c.2852G>A (p.Arg951Gln) rs755707625 0.00001
NM_198253.3(TERT):c.2905A>C (p.Asn969His) rs1748154333 0.00001
NM_198253.3(TERT):c.2914C>T (p.Arg972Cys) rs773537902 0.00001
NM_198253.3(TERT):c.2915G>A (p.Arg972His) rs1278994586 0.00001
NM_198253.3(TERT):c.2980C>T (p.Leu994Phe) rs866369624 0.00001
NM_198253.3(TERT):c.2987C>T (p.Thr996Met) rs1223394183 0.00001
NM_198253.3(TERT):c.3018G>C (p.Leu1006=) rs941352340 0.00001
NM_198253.3(TERT):c.3032+5G>A rs1187296169 0.00001
NM_198253.3(TERT):c.3101G>A (p.Arg1034His) rs62331332 0.00001
NM_198253.3(TERT):c.3103G>A (p.Val1035Ile) rs374968697 0.00001
NM_198253.3(TERT):c.3157+3A>T rs369807900 0.00001
NM_198253.3(TERT):c.316G>C (p.Gly106Arg) rs1751265277 0.00001
NM_198253.3(TERT):c.3172G>T (p.Ala1058Ser) rs1478959357 0.00001
NM_198253.3(TERT):c.3208G>A (p.Val1070Met) rs1747569185 0.00001
NM_198253.3(TERT):c.3352G>A (p.Ala1118Thr) rs756628621 0.00001
NM_198253.3(TERT):c.358C>T (p.Arg120Cys) rs1436692848 0.00001
NM_198253.3(TERT):c.362G>A (p.Ser121Asn) rs1751257719 0.00001
NM_198253.3(TERT):c.404G>C (p.Gly135Ala) rs1414898591 0.00001
NM_198253.3(TERT):c.456G>C (p.Leu152=) rs757121533 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.554G>T (p.Arg185Leu) rs749187042 0.00001
NM_198253.3(TERT):c.560C>G (p.Pro187Arg) rs906128293 0.00001
NM_198253.3(TERT):c.566A>G (p.His189Arg) rs769638625 0.00001
NM_198253.3(TERT):c.568G>A (p.Ala190Thr) rs377016753 0.00001
NM_198253.3(TERT):c.571A>G (p.Ser191Gly) rs1425605385 0.00001
NM_198253.3(TERT):c.601C>T (p.Arg201Trp) rs765833936 0.00001
NM_198253.3(TERT):c.670C>T (p.Arg224Cys) rs750497661 0.00001
NM_198253.3(TERT):c.689G>A (p.Arg230Gln) rs957794083 0.00001
NM_198253.3(TERT):c.702G>C (p.Leu234Phe) rs754359147 0.00001
NM_198253.3(TERT):c.708G>C (p.Lys236Asn) rs1250720718 0.00001
NM_198253.3(TERT):c.719G>A (p.Arg240His) rs751231538 0.00001
NM_198253.3(TERT):c.736C>T (p.Pro246Ser) rs1379205693 0.00001
NM_198253.3(TERT):c.746C>T (p.Thr249Met) rs1174718400 0.00001
NM_198253.3(TERT):c.751G>T (p.Val251Phe) rs776569822 0.00001
NM_198253.3(TERT):c.758A>G (p.Gln253Arg) rs1172617636 0.00001
NM_198253.3(TERT):c.760G>A (p.Gly254Arg) rs1439775799 0.00001
NM_198253.3(TERT):c.76A>G (p.Thr26Ala) rs1579599309 0.00001
NM_198253.3(TERT):c.770C>G (p.Ala257Gly) rs746814762 0.00001
NM_198253.3(TERT):c.77C>T (p.Thr26Met) rs760727529 0.00001
NM_198253.3(TERT):c.800A>G (p.Asp267Gly) rs878855306 0.00001
NM_198253.3(TERT):c.802C>T (p.Arg268Cys) rs749827230 0.00001
NM_198253.3(TERT):c.814G>A (p.Val272Met) rs1751201506 0.00001
NM_198253.3(TERT):c.880C>T (p.His294Tyr) rs886059906 0.00001
NM_198253.3(TERT):c.881A>T (p.His294Leu) rs1240646657 0.00001
NM_198253.3(TERT):c.892T>A (p.Ser298Thr) rs1334806555 0.00001
NM_198253.3(TERT):c.895G>A (p.Val299Met) rs756624928 0.00001
NM_198253.3(TERT):c.907C>A (p.His303Asn) rs376074999 0.00001
NM_198253.3(TERT):c.922C>G (p.Pro308Ala) rs753366759 0.00001
NM_198253.3(TERT):c.934C>T (p.Arg312Trp) rs760697425 0.00001
NM_198253.3(TERT):c.941C>G (p.Pro314Arg) rs1306142415 0.00001
NM_198253.3(TERT):c.944G>A (p.Arg315His) rs1369958224 0.00001
NM_198253.3(TERT):c.956C>T (p.Thr319Met) rs1213662764 0.00001
NM_198253.3(TERT):c.965C>T (p.Pro322Leu) rs1438162956 0.00001
NM_198253.3(TERT):c.970G>A (p.Val324Met) rs878855307 0.00001
NM_198253.3(TERT):c.979G>C (p.Glu327Gln) rs371457181 0.00001
NM_198253.3(TERT):c.988C>A (p.His330Asn) rs1172004659 0.00001
NR_001566.3(TERC):n.193G>A rs753227339 0.00001
NR_001566.3(TERC):n.202T>C rs1277188982 0.00001
NR_001566.3(TERC):n.35C>T rs199422260 0.00001
NR_001566.3(TERC):n.36C>T rs1248582778 0.00001
NR_003051.3(RMRP):n.-15delT rs1554651530 0.00001
NR_003051.3(RMRP):n.-20_-18delCTC rs1210447003 0.00001
NR_003051.3(RMRP):n.-20_-18dupCTC rs1554651542 0.00001
NR_003051.4(RMRP):n.102A>G rs983337094 0.00001
NR_003051.4(RMRP):n.115_116insA rs769131655 0.00001
NR_003051.4(RMRP):n.122_124dup rs1240755048 0.00001
NR_003051.4(RMRP):n.127C>T rs1303461251 0.00001
NR_003051.4(RMRP):n.130C>T rs1335579840 0.00001
NR_003051.4(RMRP):n.167T>G rs1160309777 0.00001
NR_003051.4(RMRP):n.202C>T rs1245933575 0.00001
NR_003051.4(RMRP):n.20G>C rs910861550 0.00001
NR_003051.4(RMRP):n.232C>T rs762145032 0.00001
NR_003051.4(RMRP):n.235A>G rs1371155716 0.00001
NR_003051.4(RMRP):n.247G>A rs1345047056 0.00001
NR_003051.4(RMRP):n.256C>G rs1170858087 0.00001
NR_003051.4(RMRP):n.263C>G rs533294975 0.00001
NR_003051.4(RMRP):n.46C>T rs1394104178 0.00001
NR_003051.4(RMRP):n.67delA rs1317019943 0.00001
NR_003051.4(RMRP):n.77C>T rs902757638 0.00001
NR_003051.4(RMRP):n.94A>C rs928762713 0.00001
NR_003051.4(RMRP):n.97G>A rs970510851 0.00001
NC_000001.10:g.(?_236631511)_(236645949_?)dup
NC_000002.11:g.(?_109336043)_(109579739_?)dup
NC_000002.11:g.(?_109367964)_(109579739_?)dup
NC_000003.11:g.(?_129150344)_(129159234_?)dup
NC_000003.11:g.(?_129150344)_(129252561_?)dup
NC_000003.11:g.(?_169482388)_(170130102_?)dup
NC_000003.11:g.(?_169482398)_(169482848_?)dup
NC_000003.12:g.(?_169764590)_(169765080_?)dup
NC_000003.12:g.(?_169764600)_(169765070_?)dup
NC_000003.12:g.(?_169764600)_(169765159_?)dup
NC_000003.12:g.169764612A>C rs2108182721
NC_000003.12:g.169764617T>C rs1560578539
NC_000003.12:g.169764621C>T rs2108182728
NC_000003.12:g.169764622C>G rs1777956819
NC_000003.12:g.169764622C>T rs1777956819
NC_000003.12:g.169764627C>T rs2108182735
NC_000003.12:g.169764628C>T
NC_000003.12:g.169764629T>A
NC_000003.12:g.169764629T>G rs1479831336
NC_000003.12:g.169764634G>A rs1777957096
NC_000003.12:g.169764637C>A rs1337708802
NC_000003.12:g.169764651G>C rs199422286
NC_000003.12:g.169764653G>A rs199422284
NC_000003.12:g.169764656T>C rs138034348
NC_000003.12:g.169764657C>A rs2108182785
NC_000003.12:g.169764660G>A rs759566601
NC_000003.12:g.169764664C>G rs767519425
NC_000003.12:g.169764665G>A rs1483089001
NC_000003.12:g.169764666C>T
NC_000003.12:g.169764668C>T
NC_000003.12:g.169764669G>T rs1777957949
NC_000003.12:g.169764672G>A rs762378141
NC_000003.12:g.169764672G>T
NC_000003.12:g.169764676C>G
NC_000003.12:g.169764677G>A rs1777958436
NC_000003.12:g.169764681C>T
NC_000003.12:g.169764686C>T
NC_000003.12:g.169764688C>A rs1777958605
NC_000003.12:g.169764690T>C
NC_000003.12:g.169764694G>A
NC_000003.12:g.169764695C>A rs1560578577
NC_000003.12:g.169764696G>A
NC_000003.12:g.169764697G>C
NC_000003.12:g.169764699C>A rs1553915587
NC_000003.12:g.169764700_169764702delinsCTT
NC_000003.12:g.169764701G>A rs777348518
NC_000003.12:g.169764701G>T rs777348518
NC_000003.12:g.169764704A>T rs569827301
NC_000003.12:g.169764706G>T
NC_000003.12:g.169764708C>G
NC_000003.12:g.169764710G>A rs925088948
NC_000003.12:g.169764712A>G rs2108182875
NC_000003.12:g.169764712A>T
NC_000003.12:g.169764715T>A rs1777959711
NC_000003.12:g.169764716C>A
NC_000003.12:g.169764721T>C rs746192063
NC_000003.12:g.169764722C>G rs772608895
NC_000003.12:g.169764722C>T
NC_000003.12:g.169764723G>A rs935100722
NC_000003.12:g.169764726C>A
NC_000003.12:g.169764729G>A
NC_000003.12:g.169764730A>G rs2108182899
NC_000003.12:g.169764733del
NC_000003.12:g.169764734A>G
NC_000003.12:g.169764734A>T
NC_000003.12:g.169764744G>A rs2108182912
NC_000003.12:g.169764750G>C rs2108182925
NC_000003.12:g.169764755A>G
NC_000003.12:g.169764756C>G
NC_000003.12:g.169764758C>G
NC_000003.12:g.169764762G>A
NC_000003.12:g.169764763C>T rs2108182936
NC_000003.12:g.169764765G>A
NC_000003.12:g.169764765G>T rs2108182940
NC_000003.12:g.169764766T>C rs1297308302
NC_000003.12:g.169764774G>C
NC_000003.12:g.169764774G>T rs1777960407
NC_000003.12:g.169764775G>C
NC_000003.12:g.169764777G>A rs1577384177
NC_000003.12:g.169764777G>T
NC_000003.12:g.169764778C>A rs2108182963
NC_000003.12:g.169764779C>T rs1777960488
NC_000003.12:g.169764780T>C
NC_000003.12:g.169764782C>A
NC_000003.12:g.169764783G>A rs1777960566
NC_000003.12:g.169764785A>G
NC_000003.12:g.169764786G>A
NC_000003.12:g.169764791C>T rs1777960642
NC_000003.12:g.169764793C>T rs2108182996
NC_000003.12:g.169764795G>A rs1777960682
NC_000003.12:g.169764800A>C
NC_000003.12:g.169764803G>A rs1577384186
NC_000003.12:g.169764805G>A rs1777960849
NC_000003.12:g.169764806G>A rs2108183019
NC_000003.12:g.169764808C>T
NC_000003.12:g.169764810C>T rs2108183025
NC_000003.12:g.169764814G>T
NC_000003.12:g.169764817G>A
NC_000003.12:g.169764817G>C
NC_000003.12:g.169764818G>A rs2108183041
NC_000003.12:g.169764819G>A rs1375071104
NC_000003.12:g.169764820T>C rs537355285
NC_000003.12:g.169764822C>T rs1016737019
NC_000003.12:g.169764823G>A rs1577384200
NC_000003.12:g.169764825G>C rs1777961092
NC_000003.12:g.169764831G>A rs893587661
NC_000003.12:g.169764832G>A
NC_000003.12:g.169764833C>A
NC_000003.12:g.169764840C>G
NC_000003.12:g.169764842C>T rs1277657900
NC_000003.12:g.169764843G>A
NC_000003.12:g.169764844C>G rs1553915599
NC_000003.12:g.169764850G>T
NC_000003.12:g.169764851T>G
NC_000003.12:g.169764852C>A rs1200725441
NC_000003.12:g.169764852C>G rs1200725441
NC_000003.12:g.169764852C>T rs1200725441
NC_000003.12:g.169764855C>T rs1445101144
NC_000003.12:g.169764861G>A rs1777961769
NC_000003.12:g.169764862G>T
NC_000003.12:g.169764863G>A rs1191661277
NC_000003.12:g.169764864C>T rs763663847
NC_000003.12:g.169764869G>A rs1383015695
NC_000003.12:g.169764869G>C
NC_000003.12:g.169764871G>A
NC_000003.12:g.169764877A>G
NC_000003.12:g.169764878G>A rs1391283733
NC_000003.12:g.169764879C>G rs1777962078
NC_000003.12:g.169764884A>G
NC_000003.12:g.169764895G>T rs1303286129
NC_000003.12:g.169764898C>A rs758748876
NC_000003.12:g.169764898C>G
NC_000003.12:g.169764898C>T rs758748876
NC_000003.12:g.169764899T>C rs1777962278
NC_000003.12:g.169764899T>G rs1777962278
NC_000003.12:g.169764905G>A rs887909084
NC_000003.12:g.169764906A>C
NC_000003.12:g.169764908C>A rs1211790833
NC_000003.12:g.169764908C>T rs1211790833
NC_000003.12:g.169764909G>A rs1777962509
NC_000003.12:g.169764912G>A
NC_000003.12:g.169764913G>C rs2108183190
NC_000003.12:g.169764916G>A rs1777962706
NC_000003.12:g.169764919G>T rs1560578689
NC_000003.12:g.169764920G>A
NC_000003.12:g.169764927G>A rs1306157402
NC_000003.12:g.169764927G>C rs1306157402
NC_000003.12:g.169764928A>G rs1777963007
NC_000003.12:g.169764929G>A rs1160164639
NC_000003.12:g.169764930G>A rs1414718271
NC_000003.12:g.169764931C>T rs2108183226
NC_000003.12:g.169764933T>C rs1553915610
NC_000003.12:g.169764940C>T
NC_000003.12:g.169764942G>A rs1021170574
NC_000003.12:g.169764945G>C
NC_000003.12:g.169764946A>C rs1777963295
NC_000003.12:g.169764953G>A
NC_000003.12:g.169764954C>G rs1553915617
NC_000003.12:g.169764955G>A
NC_000003.12:g.169764956A>T
NC_000003.12:g.169764957G>A rs1777963465
NC_000003.12:g.169764962A>G
NC_000003.12:g.169764964A>C rs1777963567
NC_000003.12:g.169764965G>A rs1777963621
NC_000003.12:g.169764967G>A rs1212628582
NC_000003.12:g.169764970C>A rs1777963764
NC_000003.12:g.169764971G>A
NC_000003.12:g.169764971G>T rs1560578729
NC_000003.12:g.169764973G>A rs2108183299
NC_000003.12:g.169764973G>T rs2108183299
NC_000003.12:g.169764974G>A
NC_000003.12:g.169764974G>C rs1777963818
NC_000003.12:g.169764976G>A
NC_000003.12:g.169764977C>T
NC_000003.12:g.169764978A>G
NC_000003.12:g.169764983C>A
NC_000003.12:g.169764985C>T
NC_000003.12:g.169764986G>C rs771988301
NC_000003.12:g.169764987G>A
NC_000003.12:g.169764989G>A
NC_000003.12:g.169764990C>A rs1777964145
NC_000003.12:g.169764995G>T rs1577384356
NC_000003.12:g.169764996C>A rs2108183345
NC_000003.12:g.169764996C>T
NC_000003.12:g.169764999T>A
NC_000003.12:g.169764999T>C
NC_000003.12:g.169764999T>G rs1203113072
NC_000003.12:g.169765001C>T rs1777964257
NC_000003.12:g.169765003C>G rs113487931
NC_000003.12:g.169765003_169765004del rs1777964336
NC_000003.12:g.169765004A>G rs1777964371
NC_000003.12:g.169765005G>C rs1777964433
NC_000003.12:g.169765006T>C
NC_000003.12:g.169765007T>C rs1288561509
NC_000003.12:g.169765015G>A rs1330995437
NC_000003.12:g.169765015G>C rs1330995437
NC_000003.12:g.169765016A>C
NC_000003.12:g.169765017C>A
NC_000003.12:g.169765018A>C rs1553915624
NC_000003.12:g.169765018A>G
NC_000003.12:g.169765021A>C
NC_000003.12:g.169765022A>G rs1777964782
NC_000003.12:g.169765023A>T rs1488733250
NC_000003.12:g.169765024T>A rs199422261
NC_000003.12:g.169765024T>G rs199422261
NC_000003.12:g.169765029A>G
NC_000003.12:g.169765030C>A
NC_000003.12:g.169765030C>G
NC_000003.12:g.169765030C>T rs1446625124
NC_000003.12:g.169765032A>G rs1336050074
NC_000003.12:g.169765033C>G rs757982667
NC_000003.12:g.169765033C>T rs757982667
NC_000003.12:g.169765034_169765035insG
NC_000003.12:g.169765035C>A
NC_000003.12:g.169765035C>G
NC_000003.12:g.169765035C>T
NC_000003.12:g.169765036C>A
NC_000003.12:g.169765040C>G
NC_000003.12:g.169765041A>C
NC_000003.12:g.169765041A>G rs1060502987
NC_000003.12:g.169765042G>A
NC_000003.12:g.169765043G>T
NC_000003.12:g.169765048C>A rs1383902005
NC_000003.12:g.169765049C>T
NC_000003.12:g.169765054G>A
NC_000003.12:g.169765054G>T rs781517281
NC_000003.12:g.169765055C>T rs1777965825
NC_000003.12:g.169765057A>T
NC_000003.12:g.169765058C>G rs1351896490
NC_000003.12:g.169765058C>T rs1351896490
NC_000003.12:g.169765059C>T
NC_000003.12:g.169765060C>G rs953309807
NC_000004.11:g.(?_5564575)_(5735182_?)dup
NC_000004.11:g.(?_5617129)_(5617291_?)del
NC_000004.11:g.(?_5682967)_(5683060_?)del
NC_000004.11:g.(?_5720955)_(5721120_?)del
NC_000005.10:g.(?_1253708)_(1258679_?)dup
NC_000005.10:g.(?_1253708)_(1272300_?)dup
NC_000005.10:g.(?_1253728)_(1253841_?)dup
NC_000005.10:g.(?_1253728)_(1255421_?)dup
NC_000005.10:g.(?_1258588)_(1295046_?)dup
NC_000005.10:g.(?_177600191)_(178153837_?)dup
NC_000005.10:g.(?_178149693)_(178153837_?)del
NC_000005.10:g.(?_178149693)_(178153837_?)dup
NC_000005.10:g.(?_178149707)_(178153823_?)del
NC_000005.10:g.(?_218349)_(1297373_?)dup
NC_000005.9:g.(?_1201766)_(1258794_?)dup
NC_000005.9:g.(?_1201766)_(1443312_?)dup
NC_000005.9:g.(?_1253833)_(1253956_?)dup
NC_000005.9:g.(?_1253833)_(1255536_?)dup
NC_000005.9:g.(?_1253833)_(1258784_?)dup
NC_000005.9:g.(?_1253833)_(1272405_?)dup
NC_000005.9:g.(?_1253833)_(1295114_?)dup
NC_000005.9:g.(?_1253833)_(1295161_?)dup
NC_000005.9:g.(?_1253837)_(1295110_?)dup
NC_000005.9:g.(?_1253843)_(1258784_?)dup
NC_000005.9:g.(?_1253843)_(1258794_?)dup
NC_000005.9:g.(?_1253843)_(1264717_?)dup
NC_000005.9:g.(?_1253843)_(1272405_?)dup
NC_000005.9:g.(?_1253843)_(1280463_?)dup
NC_000005.9:g.(?_1253843)_(1297488_?)dup
NC_000005.9:g.(?_1254473)_(1322087_?)dup
NC_000005.9:g.(?_1258693)_(1268768_?)dup
NC_000005.9:g.(?_1268615)_(1268768_?)del
NC_000005.9:g.(?_1271224)_(1297488_?)dup
NC_000005.9:g.(?_1278746)_(1297488_?)dup
NC_000005.9:g.(?_1293408)_(1443312_?)dup
NC_000005.9:g.(?_1293418)_(1295161_?)dup
NC_000005.9:g.(?_177419710)_(177578014_?)dup
NC_000005.9:g.(?_893114)_(1272415_?)dup
NC_000006.11:g.(?_121401917)_(121769142_?)del
NC_000006.11:g.(?_121767974)_(121769162_?)dup
NC_000006.11:g.(?_7542149)_(7542338_?)dup
NC_000006.11:g.(?_7542149)_(7880576_?)dup
NC_000006.11:g.(?_7579782)_(7581194_?)del
NC_000008.10:g.(?_116426251)_(120844804_?)dup
NC_000009.12:g.35657873G>A rs757576534
NC_000009.12:g.35657928T>C rs752723025
NC_000009.12:g.35658020C>A rs958637129
NC_000009.12:g.35658020C>T rs958637129
NC_000009.12:g.35658022T>A rs555890962
NC_000009.12:g.35658022T>C rs555890962
NC_000009.12:g.35658023C>A rs7024732
NC_000009.12:g.35658024C>A rs191438045
NC_000009.12:g.35658024C>G rs191438045
NC_000009.12:g.35658025T>A rs111909453
NC_000009.12:g.35658026C>T rs898955976
NC_000009.12:g.35658027A>G rs12552387
NC_000009.12:g.35658028G>C rs572830134
NC_000009.12:g.35658028G>T rs572830134
NC_000009.12:g.35658029C>T rs545020206
NC_000009.12:g.35658030T>C rs372044910
NC_000009.12:g.35658033A>G rs765292137
NC_000009.12:g.35658036G>A rs775303012
NC_000009.12:g.35658038G>A rs183974004
NC_000009.12:g.35658041G>T rs188660894
NC_000009.12:g.35658042T>A rs529852688
NC_000009.12:g.35658042T>G rs529852688
NC_000009.12:g.35658049T>C rs145463993
NC_000009.12:g.35658072A>T rs181777676
NC_000009.12:g.35658073del rs1554651600
NC_000011.10:g.(?_88293986)_(88337727_?)dup
NC_000011.9:g.(?_88027174)_(88029452_?)dup
NC_000011.9:g.(?_88027174)_(89018142_?)dup
NC_000013.10:g.(?_20716100)_(21398980_?)dup
NC_000013.10:g.(?_20763040)_(20797619_?)dup
NC_000013.10:g.(?_20796834)_(21099933_?)del
NC_000014.8:g.(?_24707479)_(24711538_?)dup
NC_000014.8:g.(?_24711327)_(24731558_?)dup
NC_000014.8:g.(?_35182071)_(35873850_?)del
NC_000015.10:g.(?_34341948)_(34343093_?)dup
NC_000015.9:g.(?_34634149)_(34635294_?)del
NC_000015.9:g.(?_34634169)_(34635274_?)dup
NC_000016.10:g.(?_14436697)_(14609143_?)dup
NC_000016.10:g.(?_3727698)_(4802591_?)dup
NC_000016.10:g.4802447CCT[2] rs1319711782
NC_000016.10:g.67660262C>T
NC_000016.10:g.67660263_67660288del
NC_000016.10:g.67660263_67660288dup rs1339425052
NC_000016.10:g.67660265C>G
NC_000016.10:g.67660270G>A rs758189246
NC_000016.10:g.67660271C>A
NC_000016.10:g.67660271C>T rs763682845
NC_000016.10:g.67660277C>G rs776666988
NC_000016.10:g.67660280C>T
NC_000016.10:g.67660291G>C
NC_000016.10:g.67660292G>A rs2142976460
NC_000016.10:g.67660292_67660309del rs1185708088
NC_000016.10:g.67660295G>A
NC_000016.10:g.67660297G>A
NC_000016.10:g.67660300A>G
NC_000016.10:g.67660300del rs2142976499
NC_000016.10:g.67660303T>C
NC_000016.10:g.67660322G>A rs773291286
NC_000016.10:g.67660322_67660356del rs2142976594
NC_000016.10:g.67660324AGG[2] rs1198905942
NC_000016.10:g.67660324del
NC_000016.10:g.67660325G>T
NC_000016.10:g.67660330A>C
NC_000016.10:g.67660332_67660346dup rs2142976632
NC_000016.10:g.67660346C>A
NC_000016.10:g.67660346C>T
NC_000016.10:g.67660351C>T rs767099534
NC_000016.10:g.67660354G>A
NC_000016.10:g.67660355C>T
NC_000016.10:g.67660358G>A rs1347436636
NC_000016.10:g.67660358G>T
NC_000016.10:g.67660360G>T
NC_000016.10:g.67660361C>T
NC_000016.10:g.67660364G>A
NC_000016.10:g.67660370G>A rs748543340
NC_000016.10:g.67660370G>T
NC_000016.10:g.67660373C>T rs1452825225
NC_000016.10:g.67660376C>T rs772377460
NC_000016.10:g.67660378C>A
NC_000016.10:g.67660378C>G
NC_000016.10:g.67660379G>C
NC_000016.10:g.67660381G>T
NC_000016.10:g.67660384C>A
NC_000016.10:g.67660384C>T rs774085628
NC_000016.10:g.67660385C>A rs761628896
NC_000016.10:g.67660385C>G rs761628896
NC_000016.10:g.67660387G>C
NC_000016.10:g.67660391G>A rs376813282
NC_000016.10:g.67660393A>C
NC_000016.10:g.67660393A>G
NC_000016.10:g.67660393A>T
NC_000016.10:g.67660400C>G rs2052987449
NC_000016.10:g.67660401G>T
NC_000016.10:g.67660405G>C rs1237579301
NC_000016.10:g.67660407C>A
NC_000016.10:g.67660407C>T rs745972649
NC_000016.10:g.67660407_67660419dup rs757084527
NC_000016.10:g.67660408C>T
NC_000016.10:g.67660414G>A
NC_000016.10:g.67660415C>G
NC_000016.10:g.67660417G>A
NC_000016.10:g.67660423C>G
NC_000016.10:g.67660423C>T
NC_000016.10:g.67660426G>A
NC_000016.10:g.67660435C>G
NC_000016.10:g.67660442C>T rs781424953
NC_000016.10:g.67660444C>G
NC_000016.10:g.67660450G>C
NC_000016.10:g.67660461C>G
NC_000016.10:g.67660465C>T rs1555542868
NC_000016.10:g.67660468C>T
NC_000016.10:g.67660472C>G
NC_000016.10:g.67660478T>C rs1308323945
NC_000016.9:g.(?_14530574)_(14530649_?)dup
NC_000016.9:g.(?_14530574)_(14540958_?)dup
NC_000016.9:g.(?_14530574)_(14576704_?)dup
NC_000016.9:g.(?_14530574)_(14724045_?)dup
NC_000016.9:g.(?_14540725)_(14576704_?)dup
NC_000016.9:g.(?_14645858)_(14724045_?)dup
NC_000016.9:g.(?_14674711)_(14724002_?)dup
NC_000016.9:g.(?_14693751)_(14724045_?)dup
NC_000016.9:g.(?_14711427)_(14724045_?)dup
NC_000016.9:g.(?_14723944)_(14724045_?)dup
NC_000016.9:g.(?_4847441)_(4852592_?)dup
NC_000016.9:g.(?_4847919)_(4852572_?)dup
NC_000016.9:g.(?_65821800)_(72146396_?)del
NC_000016.9:g.(?_67692438)_(67694381_?)del
NC_000017.10:g.(?_6589506)_(8151374_?)dup
NC_000017.10:g.(?_8131498)_(8285628_?)dup
NC_000017.11:g.(?_8228170)_(8382320_?)dup
NC_000020.10:g.(?_61978090)_(62324656_?)dup
NC_000020.10:g.(?_62290736)_(62327158_?)dup
NC_000020.10:g.(?_62290756)_(62297442_?)dup
NC_000020.10:g.(?_62290756)_(62327211_?)dup
NC_000020.10:g.(?_62290756)_(62328484_?)dup
NC_000020.10:g.(?_62303889)_(62312092_?)del
NC_000020.10:g.(?_62325705)_(62329916_?)dup
NC_000020.10:g.(?_62325715)_(62326337_?)del
NC_000020.11:g.(?_63659403)_(63693293_?)dup
NC_000020.11:g.63692805GAG[1] rs2145445535
NC_000020.11:g.63698429C>A rs1301451713
NC_000020.11:g.63698447G>A rs781286204
NC_000020.11:g.63698566C>T rs1270503048
NC_000020.11:g.63698647T>C rs1555816562
NC_000023.10:g.(?_152014869)_(154563736_?)del
NC_000023.10:g.(?_153991099)_(154005162_?)dup
NC_000023.10:g.(?_153991100)_(153993815_?)dup
NC_000023.10:g.(?_153991100)_(154005142_?)dup
NC_000023.11:g.70027902_70027919del rs397516668
NM_000122.2(ERCC3):c.1018C>T (p.Leu340Phe)
NM_000122.2(ERCC3):c.1628C>G (p.Ala543Gly)
NM_000122.2(ERCC3):c.2146G>A (p.Val716Ile)
NM_000122.2(ERCC3):c.518A>G (p.Asn173Ser)
NM_000122.2(ERCC3):c.701G>A (p.Arg234Gln) rs1249110579
NM_000165.5(GJA1):c.*1020_*1021del rs375943953
NM_000165.5(GJA1):c.*1043T>C rs886061021
NM_000165.5(GJA1):c.*1101T>C rs886061022
NM_000165.5(GJA1):c.*1204A>G rs1773943656
NM_000165.5(GJA1):c.*163G>A rs886061011
NM_000165.5(GJA1):c.*212A>T rs1408036306
NM_000165.5(GJA1):c.*301C>T rs72548749
NM_000165.5(GJA1):c.*47A>G rs886061010
NM_000165.5(GJA1):c.*529C>G rs886061013
NM_000165.5(GJA1):c.*694T>C rs886061016
NM_000165.5(GJA1):c.*750G>A rs1773934302
NM_000165.5(GJA1):c.*773del rs397698276
NM_000165.5(GJA1):c.*832C>G rs773394030
NM_000165.5(GJA1):c.*888C>A rs1329687638
NM_000165.5(GJA1):c.*992G>A rs903940354
NM_000165.5(GJA1):c.-188G>T rs886061008
NM_000165.5(GJA1):c.1001C>T (p.Pro334Leu)
NM_000165.5(GJA1):c.1007A>T (p.Asp336Val)
NM_000165.5(GJA1):c.1055A>T (p.Glu352Val)
NM_000165.5(GJA1):c.1075G>A (p.Val359Met)
NM_000165.5(GJA1):c.1103G>A (p.Ser368Asn) rs1064796878
NM_000165.5(GJA1):c.1111G>A (p.Ala371Thr) rs1773918972
NM_000165.5(GJA1):c.1114A>G (p.Ser372Gly)
NM_000165.5(GJA1):c.1137C>A (p.Asp379Glu)
NM_000165.5(GJA1):c.116C>T (p.Thr39Ile)
NM_000165.5(GJA1):c.119_121del (p.Ala40del) rs2114282978
NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del) rs1562173999
NM_000165.5(GJA1):c.129A>G (p.Ser43=) rs749135596
NM_000165.5(GJA1):c.152C>G (p.Ala51Gly)
NM_000165.5(GJA1):c.158G>A (p.Arg53His)
NM_000165.5(GJA1):c.162dup (p.Asn55Ter) rs2114283056
NM_000165.5(GJA1):c.172C>A (p.Gln58Lys)
NM_000165.5(GJA1):c.184G>A (p.Glu62Lys)
NM_000165.5(GJA1):c.189T>G (p.Asn63Lys) rs139688042
NM_000165.5(GJA1):c.197A>G (p.Tyr66Cys)
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.233G>C (p.Trp78Ser)
NM_000165.5(GJA1):c.252T>A (p.Phe84Leu) rs1773901515
NM_000165.5(GJA1):c.256T>A (p.Ser86Thr) rs2114283193
NM_000165.5(GJA1):c.270C>G (p.Leu90=) rs886061009
NM_000165.5(GJA1):c.283C>T (p.His95Tyr)
NM_000165.5(GJA1):c.287T>C (p.Val96Ala)
NM_000165.5(GJA1):c.296T>A (p.Val99Glu) rs1554201009
NM_000165.5(GJA1):c.302G>A (p.Arg101Gln)
NM_000165.5(GJA1):c.305A>T (p.Lys102Met)
NM_000165.5(GJA1):c.317T>C (p.Leu106Pro) rs2114283321
NM_000165.5(GJA1):c.328G>A (p.Glu110Lys)
NM_000165.5(GJA1):c.359G>C (p.Gly120Ala)
NM_000165.5(GJA1):c.361G>A (p.Val121Ile)
NM_000165.5(GJA1):c.402G>C (p.Lys134Asn)
NM_000165.5(GJA1):c.413G>T (p.Gly138Val)
NM_000165.5(GJA1):c.430A>T (p.Lys144Ter)
NM_000165.5(GJA1):c.445G>A (p.Gly149Arg)
NM_000165.5(GJA1):c.457C>T (p.Arg153Ter)
NM_000165.5(GJA1):c.458G>A (p.Arg153Gln)
NM_000165.5(GJA1):c.461_465dup (p.Ile156fs)
NM_000165.5(GJA1):c.466A>G (p.Ile156Val)
NM_000165.5(GJA1):c.493T>C (p.Phe165Leu)
NM_000165.5(GJA1):c.494T>C (p.Phe165Ser)
NM_000165.5(GJA1):c.502G>A (p.Ala168Thr) rs2228961
NM_000165.5(GJA1):c.503C>G (p.Ala168Gly)
NM_000165.5(GJA1):c.526A>G (p.Ile176Val) rs878853696
NM_000165.5(GJA1):c.528C>G (p.Ile176Met)
NM_000165.5(GJA1):c.539G>T (p.Ser180Ile)
NM_000165.5(GJA1):c.545G>A (p.Ser182Asn)
NM_000165.5(GJA1):c.565del (p.Arg189fs) rs1582558420
NM_000165.5(GJA1):c.586G>A (p.Val196Met)
NM_000165.5(GJA1):c.605G>A (p.Arg202His) rs750294638
NM_000165.5(GJA1):c.634T>A (p.Phe212Ile) rs1773908003
NM_000165.5(GJA1):c.643G>A (p.Val215Met) rs1390364475
NM_000165.5(GJA1):c.655G>A (p.Val219Met)
NM_000165.5(GJA1):c.655G>C (p.Val219Leu)
NM_000165.5(GJA1):c.680A>G (p.Glu227Gly)
NM_000165.5(GJA1):c.681A>T (p.Glu227Asp) rs875989815
NM_000165.5(GJA1):c.682C>T (p.Leu228Phe)
NM_000165.5(GJA1):c.683T>G (p.Leu228Arg)
NM_000165.5(GJA1):c.689del (p.Tyr230fs) rs2114283978
NM_000165.5(GJA1):c.711G>C (p.Lys237Asn)
NM_000165.5(GJA1):c.718_719delinsAA (p.Val240Asn) rs2114284069
NM_000165.5(GJA1):c.732C>A (p.Ser244Arg) rs754052391
NM_000165.5(GJA1):c.733G>A (p.Asp245Asn)
NM_000165.5(GJA1):c.736C>A (p.Pro246Thr)
NM_000165.5(GJA1):c.746C>T (p.Ala249Val)
NM_000165.5(GJA1):c.755G>A (p.Gly252Asp) rs1773910782
NM_000165.5(GJA1):c.761T>C (p.Leu254Pro) rs1374645750
NM_000165.5(GJA1):c.803T>C (p.Phe268Ser)
NM_000165.5(GJA1):c.826G>A (p.Ala276Thr)
NM_000165.5(GJA1):c.832C>T (p.Leu278Phe)
NM_000165.5(GJA1):c.838C>T (p.Pro280Ser)
NM_000165.5(GJA1):c.847CCT[1] (p.Pro284del)
NM_000165.5(GJA1):c.851C>T (p.Pro284Leu)
NM_000165.5(GJA1):c.861G>T (p.Lys287Asn)
NM_000165.5(GJA1):c.875A>G (p.Asp292Gly)
NM_000165.5(GJA1):c.875A>T (p.Asp292Val)
NM_000165.5(GJA1):c.882C>G (p.Asn294Lys)
NM_000165.5(GJA1):c.884A>G (p.Asn295Ser)
NM_000165.5(GJA1):c.886T>C (p.Ser296Pro) rs1773914179
NM_000165.5(GJA1):c.887CTT[1] (p.Ser297del) rs976659652
NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr) rs1773914309
NM_000165.5(GJA1):c.895C>A (p.Arg299Ser) rs748954821
NM_000165.5(GJA1):c.895C>T (p.Arg299Cys) rs748954821
NM_000165.5(GJA1):c.896G>T (p.Arg299Leu) rs778457698
NM_000165.5(GJA1):c.904A>G (p.Asn302Asp)
NM_000165.5(GJA1):c.908A>G (p.Lys303Arg)
NM_000165.5(GJA1):c.92T>G (p.Ile31Ser)
NM_000165.5(GJA1):c.932del (p.Ala311fs) rs778110855
NM_000165.5(GJA1):c.937_945dup (p.Ala315_Glu316insTyrSerAla)
NM_000165.5(GJA1):c.952A>C (p.Asn318His)
NM_000165.5(GJA1):c.956G>A (p.Arg319Gln)
NM_000165.5(GJA1):c.962G>A (p.Gly321Glu) rs1294212392
NM_000165.5(GJA1):c.971G>A (p.Gly324Glu)
NM_000165.5(GJA1):c.977C>T (p.Thr326Ile)
NM_000165.5(GJA1):c.981C>G (p.Ile327Met)
NM_000165.5(GJA1):c.989C>G (p.Ser330Cys)
NM_000165.5(GJA1):c.992A>T (p.His331Leu)
NM_000168.6(GLI3):c.4436T>C (p.Leu1479Ser) rs1057519504
NM_000400.4(ERCC2):c.1118+4C>T rs762719901
NM_000400.4(ERCC2):c.1248C>G (p.Ile416Met)
NM_000400.4(ERCC2):c.1292C>G (p.Pro431Arg)
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs) rs1972045362
NM_000400.4(ERCC2):c.1483A>G (p.Ile495Val)
NM_000400.4(ERCC2):c.1832-3C>G rs1971859134
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.4(ERCC2):c.2252A>G (p.Lys751Arg)
NM_000400.4(ERCC2):c.2282G>C (p.Ter761Ser) rs966558219
NM_000400.4(ERCC2):c.688G>A (p.Val230Ile)
NM_000400.4(ERCC2):c.980A>G (p.Glu327Gly)
NM_001005337.2(PKP1):c.-235G>T rs1655631765
NM_001005337.3(PKP1):c.*1064G>A rs765354486
NM_001005337.3(PKP1):c.*1132T>A rs1657310525
NM_001005337.3(PKP1):c.*1197C>T rs540651814
NM_001005337.3(PKP1):c.*1409C>T rs886045821
NM_001005337.3(PKP1):c.*1443G>A rs530912477
NM_001005337.3(PKP1):c.*1516T>C rs886045823
NM_001005337.3(PKP1):c.*1558C>T rs1657326695
NM_001005337.3(PKP1):c.*1565C>T rs886045824
NM_001005337.3(PKP1):c.*1604C>T rs886045825
NM_001005337.3(PKP1):c.*177del rs886045814
NM_001005337.3(PKP1):c.*1812G>A rs149146601
NM_001005337.3(PKP1):c.*222G>A rs7541805
NM_001005337.3(PKP1):c.*224delinsGG rs1571568145
NM_001005337.3(PKP1):c.*2408A>G rs1657356104
NM_001005337.3(PKP1):c.*2501C>T rs1657360723
NM_001005337.3(PKP1):c.*2568_*2569insA rs139473144
NM_001005337.3(PKP1):c.*2805C>G rs1657376737
NM_001005337.3(PKP1):c.*2858C>A rs555268205
NM_001005337.3(PKP1):c.*349A>G rs886045818
NM_001005337.3(PKP1):c.*447A>T rs886045819
NM_001005337.3(PKP1):c.*448T>C rs925402795
NM_001005337.3(PKP1):c.*644G>A rs886045820
NM_001005337.3(PKP1):c.*673G>A rs74504311
NM_001005337.3(PKP1):c.*713T>G rs181019805
NM_001005337.3(PKP1):c.*741G>A rs1657297949
NM_001005337.3(PKP1):c.*861A>G rs1657302517
NM_001005337.3(PKP1):c.-96G>A rs886045807
NM_001005337.3(PKP1):c.1116G>C (p.Leu372=) rs371461061
NM_001005337.3(PKP1):c.1326G>T (p.Ala442=) rs200173870
NM_001005337.3(PKP1):c.1347+7G>A rs1558194110
NM_001005337.3(PKP1):c.1358A>G (p.Asn453Ser) rs1340478586
NM_001005337.3(PKP1):c.1438G>A (p.Ala480Thr) rs201459638
NM_001005337.3(PKP1):c.15G>T (p.Pro5=) rs760122260
NM_001005337.3(PKP1):c.1615A>G (p.Lys539Glu) rs1657000777
NM_001005337.3(PKP1):c.1681-1G>A rs1558196067
NM_001005337.3(PKP1):c.1938C>A (p.Asn646Lys) rs781360485
NM_001005337.3(PKP1):c.208A>G (p.Met70Val)
NM_001005337.3(PKP1):c.2093G>A (p.Gly698Asp) rs201628992
NM_001005337.3(PKP1):c.453G>T (p.Lys151Asn) rs149029415
NM_001005337.3(PKP1):c.475C>A (p.Leu159Ile)
NM_001005337.3(PKP1):c.790A>C (p.Ile264Leu) rs773235619
NM_001005337.3(PKP1):c.819C>T (p.Cys273=) rs886045809
NM_001005337.3(PKP1):c.822C>G (p.Phe274Leu) rs886045810
NM_001005337.3(PKP1):c.919G>T (p.Ala307Ser) rs142112484
NM_001005337.3(PKP1):c.995G>A (p.Arg332His) rs781540602
NM_001006657.1(WDR35):c.*3299C>T rs1669790644
NM_001006657.2(WDR35):c.1227G>A (p.Thr409=)
NM_001039570.3(KREMEN1):c.121G>C (p.Asp41His)
NM_001039570.3(KREMEN1):c.1351G>A (p.Asp451Asn)
NM_001039570.3(KREMEN1):c.460C>T (p.Arg154Trp)
NM_001071.4(TYMS):c.259G>A (p.Glu87Lys) rs2144258402
NM_001071.4(TYMS):c.480A>T (p.Gln160His) rs894600614
NM_001082486.1(ACD):c.119C>T (p.Ala40Val) rs374417270
NM_001082486.1(ACD):c.58G>A (p.Ala20Thr) rs372927331
NM_001082486.1(ACD):c.71_72invGG (p.Trp24Ser)
NM_001082486.2(ACD):c.-14G>T
NM_001082486.2(ACD):c.-23A>T rs746445437
NM_001082486.2(ACD):c.-26T>G
NM_001082486.2(ACD):c.-29C>A
NM_001082486.2(ACD):c.-29C>G rs534010648
NM_001082486.2(ACD):c.-29C>T
NM_001082486.2(ACD):c.-30C>T
NM_001082486.2(ACD):c.-36C>A rs762184098
NM_001082486.2(ACD):c.-36C>G rs762184098
NM_001082486.2(ACD):c.-36C>T
NM_001082486.2(ACD):c.-38A>T
NM_001082486.2(ACD):c.-6G>A
NM_001082486.2(ACD):c.-8C>G rs766360608
NM_001082486.2(ACD):c.-8C>T rs766360608
NM_001082486.2(ACD):c.-9G>A
NM_001082486.2(ACD):c.-9G>C rs377247506
NM_001082486.2(ACD):c.-9G>T rs377247506
NM_001082486.2(ACD):c.100-1G>A
NM_001082486.2(ACD):c.100-6C>A
NM_001082486.2(ACD):c.1003C>T (p.Arg335Cys) rs762262197
NM_001082486.2(ACD):c.1007C>T (p.Thr336Ile)
NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser)
NM_001082486.2(ACD):c.100G>A (p.Val34Ile) rs2052973227
NM_001082486.2(ACD):c.1019C>T (p.Pro340Leu) rs2142968039
NM_001082486.2(ACD):c.1024C>T (p.Gln342Ter) rs1316577809
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg) rs1567640107
NM_001082486.2(ACD):c.1040del (p.Ser347fs)
NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu) rs2142967912
NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu)
NM_001082486.2(ACD):c.1051C>T (p.Arg351Cys)
NM_001082486.2(ACD):c.1058A>G (p.His353Arg)
NM_001082486.2(ACD):c.1072C>T (p.His358Tyr)
NM_001082486.2(ACD):c.107A>G (p.Gln36Arg)
NM_001082486.2(ACD):c.1081C>T (p.Leu361Phe)
NM_001082486.2(ACD):c.1102C>T (p.Pro368Ser) rs143990276
NM_001082486.2(ACD):c.1103_1104del (p.Pro368fs)
NM_001082486.2(ACD):c.1106G>A (p.Ser369Asn)
NM_001082486.2(ACD):c.1117_1125dup (p.Phe375_Val376insLysGluPhe)
NM_001082486.2(ACD):c.1126G>A (p.Val376Ile)
NM_001082486.2(ACD):c.1130G>T (p.Gly377Val) rs2142967624
NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)
NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu)
NM_001082486.2(ACD):c.1177del (p.Arg393fs)
NM_001082486.2(ACD):c.1186C>T (p.Gln396Ter) rs2052908546
NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys)
NM_001082486.2(ACD):c.1201G>A (p.Val401Ile)
NM_001082486.2(ACD):c.1206+1G>C
NM_001082486.2(ACD):c.1206+4A>G rs2142967211
NM_001082486.2(ACD):c.1207-5T>C
NM_001082486.2(ACD):c.1207G>T (p.Glu403Ter)
NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu) rs201907421
NM_001082486.2(ACD):c.1214C>T (p.Pro405Leu)
NM_001082486.2(ACD):c.1216A>C (p.Lys406Gln)
NM_001082486.2(ACD):c.1224T>A (p.His408Gln)
NM_001082486.2(ACD):c.1225C>T (p.Arg409Cys)
NM_001082486.2(ACD):c.1232G>A (p.Gly411Asp)
NM_001082486.2(ACD):c.1238C>T (p.Ala413Val) rs2052901178
NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys) rs1476903915
NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn) rs1281121095
NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg)
NM_001082486.2(ACD):c.1259C>T (p.Pro420Leu)
NM_001082486.2(ACD):c.1262C>T (p.Pro421Leu) rs149418249
NM_001082486.2(ACD):c.1280C>T (p.Ala427Val)
NM_001082486.2(ACD):c.1289A>G (p.Gln430Arg)
NM_001082486.2(ACD):c.128C>G (p.Ala43Gly)
NM_001082486.2(ACD):c.1297A>C (p.Arg433=) rs1407657316
NM_001082486.2(ACD):c.1298+1G>C rs2052898891
NM_001082486.2(ACD):c.1299G>A (p.Arg433=)
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser) rs201926842
NM_001082486.2(ACD):c.131del (p.Gly44fs)
NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu)
NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn)
NM_001082486.2(ACD):c.1363C>T (p.Pro455Ser)
NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs) rs772312742
NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr)
NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala)
NM_001082486.2(ACD):c.1370_1371delinsTT (p.Pro457Leu) rs2142965523
NM_001082486.2(ACD):c.1373T>A (p.Met458Lys)
NM_001082486.2(ACD):c.137C>T (p.Ser46Phe)
NM_001082486.2(ACD):c.139C>G (p.His47Asp) rs1057522813
NM_001082486.2(ACD):c.139C>T (p.His47Tyr)
NM_001082486.2(ACD):c.140A>G (p.His47Arg)
NM_001082486.2(ACD):c.143C>G (p.Ala48Gly)
NM_001082486.2(ACD):c.145C>T (p.Pro49Ser)
NM_001082486.2(ACD):c.164G>T (p.Gly55Val)
NM_001082486.2(ACD):c.184G>A (p.Asp62Asn)
NM_001082486.2(ACD):c.187G>A (p.Gly63Arg)
NM_001082486.2(ACD):c.188G>C (p.Gly63Ala)
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser) rs779383442
NM_001082486.2(ACD):c.194A>G (p.His65Arg)
NM_001082486.2(ACD):c.203G>T (p.Arg68Leu)
NM_001082486.2(ACD):c.206G>C (p.Cys69Ser) rs748312961
NM_001082486.2(ACD):c.233C>A (p.Thr78Asn)
NM_001082486.2(ACD):c.242+5G>A
NM_001082486.2(ACD):c.266G>T (p.Arg89Leu)
NM_001082486.2(ACD):c.28C>T (p.Arg10Trp)
NM_001082486.2(ACD):c.290T>C (p.Leu97Pro)
NM_001082486.2(ACD):c.300_305dup (p.Gly102_Val103insCysGly)
NM_001082486.2(ACD):c.304G>C (p.Gly102Arg)
NM_001082486.2(ACD):c.305G>C (p.Gly102Ala)
NM_001082486.2(ACD):c.307G>T (p.Val103Phe)
NM_001082486.2(ACD):c.316C>T (p.Gln106Ter) rs2142974596
NM_001082486.2(ACD):c.317A>G (p.Gln106Arg)
NM_001082486.2(ACD):c.326A>T (p.Glu109Val)
NM_001082486.2(ACD):c.32C>T (p.Pro11Leu)
NM_001082486.2(ACD):c.332G>A (p.Gly111Asp) rs2142974572
NM_001082486.2(ACD):c.334G>A (p.Ala112Thr)
NM_001082486.2(ACD):c.336+12G>A
NM_001082486.2(ACD):c.336+1G>A
NM_001082486.2(ACD):c.340G>T (p.Ala114Ser) rs377701284
NM_001082486.2(ACD):c.343G>C (p.Glu115Gln) rs141113896
NM_001082486.2(ACD):c.343G>T (p.Glu115Ter)
NM_001082486.2(ACD):c.350A>T (p.Tyr117Phe)
NM_001082486.2(ACD):c.352C>G (p.Leu118Val)
NM_001082486.2(ACD):c.357G>C (p.Gln119His) rs2052958022
NM_001082486.2(ACD):c.359dup (p.Asp121fs)
NM_001082486.2(ACD):c.361G>C (p.Asp121His)
NM_001082486.2(ACD):c.36G>A (p.Trp12Ter) rs1244950221
NM_001082486.2(ACD):c.40C>A (p.Arg14=)
NM_001082486.2(ACD):c.413+1G>C
NM_001082486.2(ACD):c.418C>G (p.Gln140Glu)
NM_001082486.2(ACD):c.425T>G (p.Leu142Ter) rs2142973399
NM_001082486.2(ACD):c.427G>T (p.Asp143Tyr)
NM_001082486.2(ACD):c.430G>A (p.Val144Ile)
NM_001082486.2(ACD):c.43G>C (p.Glu15Gln) rs2142976000
NM_001082486.2(ACD):c.443T>C (p.Leu148Pro)
NM_001082486.2(ACD):c.448G>T (p.Asp150Tyr)
NM_001082486.2(ACD):c.452G>T (p.Cys151Phe)
NM_001082486.2(ACD):c.453C>A (p.Cys151Ter)
NM_001082486.2(ACD):c.481T>A (p.Ser161Thr)
NM_001082486.2(ACD):c.485_486insGC (p.Asn163fs) rs2142972519
NM_001082486.2(ACD):c.493+6G>A rs2052945054
NM_001082486.2(ACD):c.494-11C>G
NM_001082486.2(ACD):c.494-5C>G
NM_001082486.2(ACD):c.496_500del (p.Leu166fs)
NM_001082486.2(ACD):c.515T>C (p.Leu172Pro) rs2142971578
NM_001082486.2(ACD):c.526C>T (p.Arg176Trp)
NM_001082486.2(ACD):c.527G>A (p.Arg176Gln) rs145007645
NM_001082486.2(ACD):c.527G>T (p.Arg176Leu) rs145007645
NM_001082486.2(ACD):c.536A>G (p.Gln179Arg)
NM_001082486.2(ACD):c.536del (p.Gln179fs) rs2142971508
NM_001082486.2(ACD):c.547G>A (p.Gly183Arg) rs2142971458
NM_001082486.2(ACD):c.548G>A (p.Gly183Glu)
NM_001082486.2(ACD):c.556G>A (p.Val186Met)
NM_001082486.2(ACD):c.563T>C (p.Leu188Pro)
NM_001082486.2(ACD):c.578T>A (p.Leu193Gln)
NM_001082486.2(ACD):c.587A>T (p.Glu196Val)
NM_001082486.2(ACD):c.590G>A (p.Gly197Asp)
NM_001082486.2(ACD):c.607C>G (p.Pro203Ala)
NM_001082486.2(ACD):c.626C>T (p.Ala209Val)
NM_001082486.2(ACD):c.634T>C (p.Cys212Arg)
NM_001082486.2(ACD):c.641C>T (p.Ala214Val) rs1306270247
NM_001082486.2(ACD):c.645+10G>C
NM_001082486.2(ACD):c.645+2T>C
NM_001082486.2(ACD):c.645+4A>C
NM_001082486.2(ACD):c.646-20A>G
NM_001082486.2(ACD):c.653C>T (p.Ala218Val)
NM_001082486.2(ACD):c.657_665dup (p.Tyr220_Val222dup) rs2142970611
NM_001082486.2(ACD):c.662C>T (p.Thr221Ile)
NM_001082486.2(ACD):c.672C>G (p.Ser224Arg)
NM_001082486.2(ACD):c.676A>G (p.Met226Val)
NM_001082486.2(ACD):c.689C>T (p.Ser230Phe)
NM_001082486.2(ACD):c.702G>C (p.Gln234His) rs1202466632
NM_001082486.2(ACD):c.706A>T (p.Ile236Phe) rs757807430
NM_001082486.2(ACD):c.718C>G (p.Leu240Val)
NM_001082486.2(ACD):c.724C>T (p.Pro242Ser)
NM_001082486.2(ACD):c.727T>C (p.Cys243Arg)
NM_001082486.2(ACD):c.733A>G (p.Arg245Gly)
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys) rs1048865744
NM_001082486.2(ACD):c.734G>C (p.Arg245Thr) rs1048865744
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys) rs1555542235
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys) rs1597770431
NM_001082486.2(ACD):c.742+4del
NM_001082486.2(ACD):c.743G>A (p.Gly248Asp)
NM_001082486.2(ACD):c.751C>G (p.Leu251Val)
NM_001082486.2(ACD):c.755C>T (p.Pro252Leu)
NM_001082486.2(ACD):c.757C>T (p.Pro253Ser)
NM_001082486.2(ACD):c.764A>G (p.Asp255Gly) rs778481591
NM_001082486.2(ACD):c.767C>G (p.Pro256Arg)
NM_001082486.2(ACD):c.773T>C (p.Leu258Pro)
NM_001082486.2(ACD):c.791C>T (p.Thr264Ile)
NM_001082486.2(ACD):c.805CCT[1] (p.Pro270del)
NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr)
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del) rs777131279
NM_001082486.2(ACD):c.820A>G (p.Ser274Gly) rs2052924182
NM_001082486.2(ACD):c.821G>T (p.Ser274Ile)
NM_001082486.2(ACD):c.830-11CTC[2]
NM_001082486.2(ACD):c.830-1G>A rs1597769397
NM_001082486.2(ACD):c.830-2A>T rs2142968890
NM_001082486.2(ACD):c.833C>T (p.Thr278Ile)
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)
NM_001082486.2(ACD):c.857C>T (p.Ser286Leu)
NM_001082486.2(ACD):c.875C>G (p.Thr292Ser)
NM_001082486.2(ACD):c.878G>A (p.Ser293Asn) rs2052917223
NM_001082486.2(ACD):c.902C>A (p.Ser301Tyr)
NM_001082486.2(ACD):c.902C>G (p.Ser301Cys)
NM_001082486.2(ACD):c.90G>C (p.Gln30His) rs1242526760
NM_001082486.2(ACD):c.911C>T (p.Ala304Val) rs2142968526
NM_001082486.2(ACD):c.931A>T (p.Ser311Cys)
NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)
NM_001082486.2(ACD):c.950_951del (p.Pro317fs) rs2142968355
NM_001082486.2(ACD):c.953C>G (p.Ala318Gly)
NM_001082486.2(ACD):c.961T>A (p.Ser321Thr) rs2052915383
NM_001082486.2(ACD):c.965C>T (p.Ala322Val) rs2142968307
NM_001082486.2(ACD):c.971C>A (p.Ala324Asp)
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn) rs777812658
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile) rs777812658
NM_001082486.2(ACD):c.99+5G>A
NM_001082486.2(ACD):c.995_1021del (p.His332_Pro340del)
NM_001082486.2(ACD):c.998C>A (p.Ala333Asp) rs973439601
NM_001085458.2(CTNND1):c.1186C>G (p.Arg396Gly) rs533993840
NM_001085458.2(CTNND1):c.1837C>T (p.Pro613Ser)
NM_001085458.2(CTNND1):c.1889C>T (p.Ser630Phe)
NM_001085458.2(CTNND1):c.2091G>A (p.Thr697=) rs2137384936
NM_001099274.3(TINF2):c.*53G>A rs886050429
NM_001099274.3(TINF2):c.-130A>G rs2040602733
NM_001099274.3(TINF2):c.-223C>G rs886050434
NM_001099274.3(TINF2):c.-50A>G rs886050432
NM_001099274.3(TINF2):c.-93T>C rs886050433
NM_001099274.3(TINF2):c.1010G>A (p.Gly337Glu)
NM_001099274.3(TINF2):c.1010del (p.Gly337fs) rs756029660
NM_001099274.3(TINF2):c.1010dup (p.Arg338fs)
NM_001099274.3(TINF2):c.1012A>G (p.Arg338Gly)
NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val) rs1566366492
NM_001099274.3(TINF2):c.1019T>C (p.Leu340Pro)
NM_001099274.3(TINF2):c.1025A>C (p.Glu342Ala) rs1555303978
NM_001099274.3(TINF2):c.1027_1028del (p.Asn343fs)
NM_001099274.3(TINF2):c.1033G>C (p.Val345Leu)
NM_001099274.3(TINF2):c.1048A>G (p.Thr350Ala)
NM_001099274.3(TINF2):c.104T>C (p.Leu35Pro) rs1440307893
NM_001099274.3(TINF2):c.1058dup (p.Glu354fs) rs2040546606
NM_001099274.3(TINF2):c.1061+1G>T rs1594550523
NM_001099274.3(TINF2):c.1061+4_1061+7del
NM_001099274.3(TINF2):c.1062-15T>C
NM_001099274.3(TINF2):c.1062-18T>C
NM_001099274.3(TINF2):c.1062-2A>G
NM_001099274.3(TINF2):c.1067G>A (p.Cys356Tyr) rs1459244615
NM_001099274.3(TINF2):c.106G>A (p.Glu36Lys)
NM_001099274.3(TINF2):c.1070_1078dup (p.Cys359_Tyr360insLeuAspCys)
NM_001099274.3(TINF2):c.1074T>C (p.Asp358=) rs886050430
NM_001099274.3(TINF2):c.1075del (p.Cys359fs)
NM_001099274.3(TINF2):c.1076G>C (p.Cys359Ser) rs368350757
NM_001099274.3(TINF2):c.1079A>G (p.Tyr360Cys)
NM_001099274.3(TINF2):c.1083G>A (p.Met361Ile) rs2040542787
NM_001099274.3(TINF2):c.1087C>T (p.Pro363Ser)
NM_001099274.3(TINF2):c.1090C>A (p.Leu364Met)
NM_001099274.3(TINF2):c.1093A>G (p.Arg365Gly) rs374740382
NM_001099274.3(TINF2):c.1096C>A (p.Leu366Ile) rs2138996481
NM_001099274.3(TINF2):c.1108C>T (p.Pro370Ser) rs2040541718
NM_001099274.3(TINF2):c.1123_1129+1del rs1335513287
NM_001099274.3(TINF2):c.1128A>T (p.Pro376=) rs2138996390
NM_001099274.3(TINF2):c.1130-1G>T rs769640244
NM_001099274.3(TINF2):c.1130-3_1130-2del rs761173366
NM_001099274.3(TINF2):c.1130-4A>T
NM_001099274.3(TINF2):c.1136C>G (p.Pro379Arg)
NM_001099274.3(TINF2):c.1150A>T (p.Ser384Cys)
NM_001099274.3(TINF2):c.1151G>A (p.Ser384Asn)
NM_001099274.3(TINF2):c.1157T>A (p.Val386Asp)
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly) rs1367518236
NM_001099274.3(TINF2):c.1166T>A (p.Ile389Lys) rs192423622
NM_001099274.3(TINF2):c.1166T>G (p.Ile389Arg)
NM_001099274.3(TINF2):c.1177G>A (p.Val393Ile)
NM_001099274.3(TINF2):c.1188TGA[1] (p.Asp397del)
NM_001099274.3(TINF2):c.118T>C (p.Ser40Pro)
NM_001099274.3(TINF2):c.1209G>C (p.Gln403His)
NM_001099274.3(TINF2):c.1209G>T (p.Gln403His)
NM_001099274.3(TINF2):c.1211G>A (p.Gly404Glu) rs765918306
NM_001099274.3(TINF2):c.1211G>T (p.Gly404Val) rs765918306
NM_001099274.3(TINF2):c.1221+5G>A
NM_001099274.3(TINF2):c.1222-11del rs746206409
NM_001099274.3(TINF2):c.1222-2A>G rs1205167406
NM_001099274.3(TINF2):c.1222-3C>T rs760553298
NM_001099274.3(TINF2):c.1224A>C (p.Glu408Asp) rs2040530178
NM_001099274.3(TINF2):c.1224dup (p.Ser409fs)
NM_001099274.3(TINF2):c.1231G>C (p.Glu411Gln)
NM_001099274.3(TINF2):c.1237_1240del (p.Tyr413fs)
NM_001099274.3(TINF2):c.1238_1239del (p.Tyr413fs)
NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu)
NM_001099274.3(TINF2):c.1250A>C (p.Lys417Thr)
NM_001099274.3(TINF2):c.1267C>T (p.Pro423Ser)
NM_001099274.3(TINF2):c.1271C>T (p.Thr424Ile) rs1346082542
NM_001099274.3(TINF2):c.1274T>G (p.Leu425Arg)
NM_001099274.3(TINF2):c.1280A>G (p.Glu427Gly)
NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile) rs780647966
NM_001099274.3(TINF2):c.1285C>G (p.Leu429Val) rs780647966
NM_001099274.3(TINF2):c.1288C>A (p.Pro430Thr) rs374776408
NM_001099274.3(TINF2):c.1288C>G (p.Pro430Ala)
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser) rs374776408
NM_001099274.3(TINF2):c.1289C>G (p.Pro430Arg)
NM_001099274.3(TINF2):c.1289C>T (p.Pro430Leu)
NM_001099274.3(TINF2):c.1291C>G (p.Pro431Ala) rs756840009
NM_001099274.3(TINF2):c.1292C>A (p.Pro431His)
NM_001099274.3(TINF2):c.1292del (p.Pro431fs) rs770529422
NM_001099274.3(TINF2):c.1300C>G (p.His434Asp)
NM_001099274.3(TINF2):c.1302C>A (p.His434Gln)
NM_001099274.3(TINF2):c.1304G>A (p.Gly435Asp)
NM_001099274.3(TINF2):c.1307C>G (p.Ala436Gly)
NM_001099274.3(TINF2):c.131T>A (p.Val44Asp) rs1282299077
NM_001099274.3(TINF2):c.131T>C (p.Val44Ala)
NM_001099274.3(TINF2):c.1325G>T (p.Cys442Phe)
NM_001099274.3(TINF2):c.1331G>A (p.Cys444Tyr) rs1455962316
NM_001099274.3(TINF2):c.1333A>G (p.Arg445Gly) rs2138994183
NM_001099274.3(TINF2):c.1334G>A (p.Arg445Lys)
NM_001099274.3(TINF2):c.1338_1339del (p.Asp446fs)
NM_001099274.3(TINF2):c.1343C>G (p.Ser448Cys)
NM_001099274.3(TINF2):c.1343C>T (p.Ser448Phe)
NM_001099274.3(TINF2):c.1349C>T (p.Pro450Leu)
NM_001099274.3(TINF2):c.138del (p.Gly47fs)
NM_001099274.3(TINF2):c.144G>C (p.Leu48Phe) rs2139003740
NM_001099274.3(TINF2):c.146T>C (p.Val49Ala) rs1594555802
NM_001099274.3(TINF2):c.163G>A (p.Glu55Lys) rs757133062
NM_001099274.3(TINF2):c.169del (p.Leu57fs)
NM_001099274.3(TINF2):c.16G>C (p.Val6Leu)
NM_001099274.3(TINF2):c.176T>C (p.Met59Thr) rs376204748
NM_001099274.3(TINF2):c.17dup (p.Ala7fs)
NM_001099274.3(TINF2):c.199G>A (p.Val67Met) rs2040591219
NM_001099274.3(TINF2):c.19G>C (p.Ala7Pro) rs1329482510
NM_001099274.3(TINF2):c.209T>C (p.Ile70Thr)
NM_001099274.3(TINF2):c.20C>T (p.Ala7Val) rs2040599044
NM_001099274.3(TINF2):c.215A>T (p.Gln72Leu) rs2139003147
NM_001099274.3(TINF2):c.217G>C (p.Gly73Arg) rs2040590786
NM_001099274.3(TINF2):c.218G>A (p.Gly73Asp) rs1566369238
NM_001099274.3(TINF2):c.221G>A (p.Arg74Gln)
NM_001099274.3(TINF2):c.223C>T (p.Pro75Ser)
NM_001099274.3(TINF2):c.228G>A (p.Trp76Ter)
NM_001099274.3(TINF2):c.230C>T (p.Ala77Val) rs1324581269
NM_001099274.3(TINF2):c.233A>G (p.Gln78Arg) rs2139003067
NM_001099274.3(TINF2):c.239T>C (p.Leu80Pro)
NM_001099274.3(TINF2):c.23G>T (p.Gly8Val)
NM_001099274.3(TINF2):c.250A>C (p.Asn84His)
NM_001099274.3(TINF2):c.254A>G (p.His85Arg)
NM_001099274.3(TINF2):c.257_258del (p.His86fs) rs2040589135
NM_001099274.3(TINF2):c.262C>A (p.Pro88Thr) rs2139002944
NM_001099274.3(TINF2):c.268T>G (p.Ser90Ala)
NM_001099274.3(TINF2):c.274C>T (p.Pro92Ser) rs2040588888
NM_001099274.3(TINF2):c.280G>C (p.Val94Leu) rs754157164
NM_001099274.3(TINF2):c.293A>C (p.Lys98Thr)
NM_001099274.3(TINF2):c.295G>C (p.Ala99Pro)
NM_001099274.3(TINF2):c.297+1G>A
NM_001099274.3(TINF2):c.297+4A>G
NM_001099274.3(TINF2):c.297+5G>A rs2139002864
NM_001099274.3(TINF2):c.307G>C (p.Asp103His)
NM_001099274.3(TINF2):c.315G>T (p.Arg105Ser)
NM_001099274.3(TINF2):c.316A>G (p.Lys106Glu) rs2040584780
NM_001099274.3(TINF2):c.31G>C (p.Ala11Pro)
NM_001099274.3(TINF2):c.324G>C (p.Leu108Phe) rs2139002450
NM_001099274.3(TINF2):c.333G>T (p.Gln111His)
NM_001099274.3(TINF2):c.334G>C (p.Glu112Gln)
NM_001099274.3(TINF2):c.342_343del (p.Phe114fs) rs2139002396
NM_001099274.3(TINF2):c.344A>G (p.Tyr115Cys) rs1594554700
NM_001099274.3(TINF2):c.370G>C (p.Ala124Pro) rs2040583306
NM_001099274.3(TINF2):c.376G>A (p.Val126Met)
NM_001099274.3(TINF2):c.37C>T (p.Arg13Cys) rs2040598351
NM_001099274.3(TINF2):c.386C>T (p.Ala129Val)
NM_001099274.3(TINF2):c.389C>G (p.Ser130Trp)
NM_001099274.3(TINF2):c.400-3T>C rs2040574912
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.415T>G (p.Tyr139Asp)
NM_001099274.3(TINF2):c.425C>A (p.Pro142His)
NM_001099274.3(TINF2):c.425C>G (p.Pro142Arg) rs770995315
NM_001099274.3(TINF2):c.433G>A (p.Ala145Thr) rs2139001098
NM_001099274.3(TINF2):c.436G>A (p.Ala146Thr)
NM_001099274.3(TINF2):c.43G>C (p.Ala15Pro)
NM_001099274.3(TINF2):c.440T>C (p.Met147Thr)
NM_001099274.3(TINF2):c.455T>C (p.Phe152Ser)
NM_001099274.3(TINF2):c.466T>C (p.Cys156Arg)
NM_001099274.3(TINF2):c.487C>T (p.Pro163Ser)
NM_001099274.3(TINF2):c.490A>C (p.Thr164Pro)
NM_001099274.3(TINF2):c.493C>T (p.Pro165Ser) rs2139000919
NM_001099274.3(TINF2):c.494C>T (p.Pro165Leu)
NM_001099274.3(TINF2):c.494_502del (p.Pro165_Ala167del) rs747496593
NM_001099274.3(TINF2):c.507+12G>A
NM_001099274.3(TINF2):c.507+6G>T rs142144996
NM_001099274.3(TINF2):c.517G>A (p.Val173Met) rs2040569011
NM_001099274.3(TINF2):c.526T>C (p.Trp176Arg)
NM_001099274.3(TINF2):c.529A>T (p.Met177Leu)
NM_001099274.3(TINF2):c.530T>G (p.Met177Arg)
NM_001099274.3(TINF2):c.553T>A (p.Ser185Thr) rs2139000156
NM_001099274.3(TINF2):c.557C>T (p.Ser186Phe)
NM_001099274.3(TINF2):c.567G>T (p.Trp189Cys)
NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys) rs1382407347
NM_001099274.3(TINF2):c.586A>G (p.Met196Val) rs2040566613
NM_001099274.3(TINF2):c.588G>C (p.Met196Ile) rs1416935989
NM_001099274.3(TINF2):c.604G>C (p.Glu202Gln)
NM_001099274.3(TINF2):c.605-3C>T
NM_001099274.3(TINF2):c.606del (p.Glu202fs) rs2138999397
NM_001099274.3(TINF2):c.607T>C (p.Cys203Arg) rs2040562236
NM_001099274.3(TINF2):c.617C>T (p.Thr206Ile) rs2138999303
NM_001099274.3(TINF2):c.630C>G (p.Asn210Lys)
NM_001099274.3(TINF2):c.640C>A (p.Pro214Thr) rs372610524
NM_001099274.3(TINF2):c.648A>C (p.Glu216Asp)
NM_001099274.3(TINF2):c.64G>A (p.Val22Ile)
NM_001099274.3(TINF2):c.659C>T (p.Pro220Leu) rs2040560743
NM_001099274.3(TINF2):c.667C>G (p.Gln223Glu)
NM_001099274.3(TINF2):c.670A>G (p.Arg224Gly) rs747792016
NM_001099274.3(TINF2):c.682C>T (p.His228Tyr) rs886050431
NM_001099274.3(TINF2):c.684C>A (p.His228Gln) rs370555134
NM_001099274.3(TINF2):c.686A>G (p.Asn229Ser)
NM_001099274.3(TINF2):c.695C>T (p.Pro232Leu)
NM_001099274.3(TINF2):c.707C>T (p.Pro236Leu) rs2040559007
NM_001099274.3(TINF2):c.70C>T (p.Arg24Cys) rs2139004072
NM_001099274.3(TINF2):c.717T>G (p.His239Gln)
NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe) rs1594551965
NM_001099274.3(TINF2):c.728G>A (p.Gly243Glu)
NM_001099274.3(TINF2):c.73G>A (p.Gly25Arg)
NM_001099274.3(TINF2):c.743C>G (p.Thr248Arg)
NM_001099274.3(TINF2):c.749C>G (p.Pro250Arg)
NM_001099274.3(TINF2):c.751G>C (p.Glu251Gln)
NM_001099274.3(TINF2):c.757C>G (p.Leu253Val)
NM_001099274.3(TINF2):c.766C>T (p.Arg256Ter)
NM_001099274.3(TINF2):c.769C>T (p.His257Tyr)
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val) rs1594551733
NM_001099274.3(TINF2):c.790G>A (p.Gly264Ser)
NM_001099274.3(TINF2):c.794G>A (p.Arg265Gln)
NM_001099274.3(TINF2):c.796C>T (p.Arg266Ter) rs1064795632
NM_001099274.3(TINF2):c.79T>C (p.Cys27Arg) rs2040597244
NM_001099274.3(TINF2):c.801A>C (p.Arg267Ser)
NM_001099274.3(TINF2):c.818C>A (p.Ala273Asp)
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001099274.3(TINF2):c.823A>C (p.Thr275Pro) rs2138998293
NM_001099274.3(TINF2):c.828G>T (p.Arg276Ser) rs2138998258
NM_001099274.3(TINF2):c.82G>C (p.Val28Leu)
NM_001099274.3(TINF2):c.838A>C (p.Lys280Gln)
NM_001099274.3(TINF2):c.880G>A (p.Gly294Ser)
NM_001099274.3(TINF2):c.896T>C (p.Val299Ala) rs1050040349
NM_001099274.3(TINF2):c.896T>G (p.Val299Gly) rs1050040349
NM_001099274.3(TINF2):c.900A>G (p.Ile300Met)
NM_001099274.3(TINF2):c.906G>C (p.Lys302Asn)
NM_001099274.3(TINF2):c.910G>A (p.Glu304Lys) rs1566366788
NM_001099274.3(TINF2):c.913A>G (p.Ser305Gly)
NM_001099274.3(TINF2):c.914G>A (p.Ser305Asn)
NM_001099274.3(TINF2):c.914G>C (p.Ser305Thr) rs746657282
NM_001099274.3(TINF2):c.917A>G (p.Lys306Arg) rs1555304016
NM_001099274.3(TINF2):c.919del (p.Glu307fs)
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln) rs1232383398
NM_001099274.3(TINF2):c.926A>T (p.His309Leu)
NM_001099274.3(TINF2):c.927T>G (p.His309Gln)
NM_001099274.3(TINF2):c.928G>A (p.Ala310Thr) rs745711329
NM_001099274.3(TINF2):c.929C>T (p.Ala310Val) rs2040550859
NM_001099274.3(TINF2):c.937A>T (p.Thr313Ser) rs1391029850
NM_001099274.3(TINF2):c.93T>G (p.Phe31Leu)
NM_001099274.3(TINF2):c.954G>C (p.Met318Ile)
NM_001099274.3(TINF2):c.95C>T (p.Pro32Leu)
NM_001099274.3(TINF2):c.962G>C (p.Arg321Thr)
NM_001099274.3(TINF2):c.968C>T (p.Ala323Val)
NM_001099274.3(TINF2):c.974C>T (p.Thr325Ile)
NM_001099274.3(TINF2):c.985A>G (p.Lys329Glu) rs1238940302
NM_001099274.3(TINF2):c.986A>G (p.Lys329Arg)
NM_001099274.3(TINF2):c.98G>A (p.Arg33Gln)
NM_001099274.3(TINF2):c.995G>C (p.Cys332Ser)
NM_001099856.6(IKBKG):c.104G>C (p.Ser35Thr)
NM_001099857.5(IKBKG):c.1056-6= rs5945206
NM_001099857.5(IKBKG):c.1056-6C>T
NM_001099857.5(IKBKG):c.399+6C>T rs1557236080
NM_001099857.5(IKBKG):c.523C>T (p.Arg175Trp)
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly) rs2148383298
NM_001102564.3(IFT43):c.103A>G (p.Asn35Asp)
NM_001102564.3(IFT43):c.128C>G (p.Ser43Cys)
NM_001102564.3(IFT43):c.147+3G>A
NM_001102564.3(IFT43):c.16G>A (p.Asp6Asn)
NM_001102564.3(IFT43):c.26A>G (p.Glu9Gly)
NM_001102564.3(IFT43):c.296-5654A>G
NM_001102564.3(IFT43):c.296-5691_296-5687delinsAAAAA
NM_001102564.3(IFT43):c.299T>C (p.Ile100Thr)
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys) rs776120367
NM_001102564.3(IFT43):c.337G>C (p.Asp113His)
NM_001102564.3(IFT43):c.352G>A (p.Val118Met)
NM_001102564.3(IFT43):c.369-11C>A
NM_001102564.3(IFT43):c.449G>A (p.Gly150Glu)
NM_001102564.3(IFT43):c.468C>T (p.Leu156=) rs563086463
NM_001102564.3(IFT43):c.507+4C>G
NM_001102564.3(IFT43):c.508-3C>T
NM_001102564.3(IFT43):c.592_594del (p.Lys198del) rs753836897
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro) rs1330242492
NM_001110219.3(GJB6):c.*628G>T rs577545882
NM_001110219.3(GJB6):c.-166A>C rs886050033
NM_001110219.3(GJB6):c.-178C>T rs886050034
NM_001110219.3(GJB6):c.-296+265C>T rs886050038
NM_001110219.3(GJB6):c.154G>T (p.Val52Phe)
NM_001110219.3(GJB6):c.176G>T (p.Gly59Val)
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp) rs2137333664
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) rs571454176
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) rs571454176
NM_001110219.3(GJB6):c.310C>T (p.Arg104Cys)
NM_001110219.3(GJB6):c.311G>A (p.Arg104His) rs549918398
NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)
NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) rs747722057
NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)
NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) rs1869317427
NM_001110219.3(GJB6):c.380G>A (p.Arg127Gln)
NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) rs201783640
NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)
NM_001110219.3(GJB6):c.511A>T (p.Ile171Phe)
NM_001110219.3(GJB6):c.568G>A (p.Val190Met)
NM_001110219.3(GJB6):c.568G>T (p.Val190Leu)
NM_001110219.3(GJB6):c.569T>G (p.Val190Gly)
NM_001110219.3(GJB6):c.571T>A (p.Phe191Ile)
NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) rs200881320
NM_001110219.3(GJB6):c.602T>C (p.Ile201Thr)
NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)
NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110219.3(GJB6):c.695C>A (p.Pro232His) rs752253778
NM_001110219.3(GJB6):c.742A>G (p.Ile248Val) rs747371119
NM_001110219.3(GJB6):c.94C>T (p.Arg32Ter)
NM_001127.4(AP1B1):c.528G>A (p.Val176=)
NM_001142730.3(KCTD1):c.1106G>A (p.Ser369Asn)
NM_001142730.3(KCTD1):c.1871A>G (p.Asn624Ser)
NM_001142730.3(KCTD1):c.1882C>A (p.Pro628Thr)
NM_001142730.3(KCTD1):c.1977C>T (p.Tyr659=)
NM_001142730.3(KCTD1):c.2041C>T (p.Gln681Ter)
NM_001142730.3(KCTD1):c.2073G>A (p.Met691Ile)
NM_001142730.3(KCTD1):c.2133+4A>G
NM_001142730.3(KCTD1):c.2134-15_2134-14del
NM_001142730.3(KCTD1):c.2179C>T (p.Pro727Ser)
NM_001142730.3(KCTD1):c.2203T>C (p.Trp735Arg)
NM_001142730.3(KCTD1):c.2212G>A (p.Asp738Asn)
NM_001142730.3(KCTD1):c.2303A>C (p.Asp768Ala)
NM_001142730.3(KCTD1):c.2305A>C (p.Lys769Gln)
NM_001142730.3(KCTD1):c.2320G>A (p.Glu774Lys)
NM_001142730.3(KCTD1):c.2321A>T (p.Glu774Val)
NM_001142730.3(KCTD1):c.2344G>A (p.Val782Met)
NM_001142730.3(KCTD1):c.2355_2363del (p.Ser786_Asn788del)
NM_001142730.3(KCTD1):c.2379C>A (p.His793Gln)
NM_001142730.3(KCTD1):c.2384C>A (p.Ser795Ter)
NM_001142730.3(KCTD1):c.2387C>T (p.Thr796Met)
NM_001142730.3(KCTD1):c.2392G>A (p.Val798Ile)
NM_001142730.3(KCTD1):c.2440-10_2440-9insA
NM_001142730.3(KCTD1):c.2495G>A (p.Gly832Glu)
NM_001142730.3(KCTD1):c.2545C>T (p.Arg849Trp)
NM_001142730.3(KCTD1):c.2551C>A (p.Pro851Thr)
NM_001142730.3(KCTD1):c.2561C>T (p.Pro854Leu)
NM_001143992.2(WRAP53):c.-1-5T>C rs2074054532
NM_001143992.2(WRAP53):c.-1-5T>G rs2074054532
NM_001143992.2(WRAP53):c.-2+2T>C rs886053517
NM_001143992.2(WRAP53):c.-23C>G rs2074051591
NM_001143992.2(WRAP53):c.-52C>T rs79199718
NM_001143992.2(WRAP53):c.1028G>A (p.Gly343Asp)
NM_001143992.2(WRAP53):c.1036G>A (p.Gly346Ser)
NM_001143992.2(WRAP53):c.1049del (p.Gly350fs) rs759174078
NM_001143992.2(WRAP53):c.1078C>G (p.Leu360Val)
NM_001143992.2(WRAP53):c.1168G>A (p.Ala390Thr) rs2151097173
NM_001143992.2(WRAP53):c.1225C>G (p.Arg409Gly)
NM_001143992.2(WRAP53):c.1313C>T (p.Ser438Phe)
NM_001143992.2(WRAP53):c.1357C>G (p.Pro453Ala)
NM_001143992.2(WRAP53):c.1369T>C (p.Phe457Leu)
NM_001143992.2(WRAP53):c.1403+6C>T rs886053518
NM_001143992.2(WRAP53):c.142G>C (p.Gly48Arg) rs2151084774
NM_001143992.2(WRAP53):c.1481A>G (p.Glu494Gly)
NM_001143992.2(WRAP53):c.1516C>T (p.Arg506Cys)
NM_001143992.2(WRAP53):c.154C>T (p.Arg52Trp)
NM_001143992.2(WRAP53):c.1557_1559del (p.Cys519_Gly520delinsTrp) rs2074302817
NM_001143992.2(WRAP53):c.1561G>T (p.Gly521Trp) rs967111874
NM_001143992.2(WRAP53):c.1564del (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs) rs755116516
NM_001143992.2(WRAP53):c.1604A>G (p.Lys535Arg)
NM_001143992.2(WRAP53):c.1615G>A (p.Gly539Arg)
NM_001143992.2(WRAP53):c.1619C>T (p.Thr540Met) rs375718073
NM_001143992.2(WRAP53):c.1627G>A (p.Gly543Ser) rs2074304991
NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs) rs764437508
NM_001143992.2(WRAP53):c.232C>A (p.Pro78Thr)
NM_001143992.2(WRAP53):c.309C>G (p.Ser103Arg)
NM_001143992.2(WRAP53):c.359G>T (p.Gly120Val)
NM_001143992.2(WRAP53):c.361C>T (p.Pro121Ser)
NM_001143992.2(WRAP53):c.457C>G (p.Leu153Val) rs571153185
NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) rs776832907
NM_001143992.2(WRAP53):c.560A>G (p.Asn187Ser)
NM_001143992.2(WRAP53):c.574A>G (p.Ile192Val)
NM_001143992.2(WRAP53):c.599C>G (p.Pro200Arg)
NM_001143992.2(WRAP53):c.611A>G (p.His204Arg) rs2074082963
NM_001143992.2(WRAP53):c.616G>C (p.Gly206Arg)
NM_001143992.2(WRAP53):c.728C>T (p.Ser243Phe)
NM_001143992.2(WRAP53):c.764A>G (p.His255Arg)
NM_001143992.2(WRAP53):c.823-11C>G
NM_001143992.2(WRAP53):c.829C>G (p.Leu277Val)
NM_001143992.2(WRAP53):c.834G>A (p.Thr278=) rs372166304
NM_001143992.2(WRAP53):c.854T>C (p.Phe285Ser)
NM_001143992.2(WRAP53):c.892C>T (p.Arg298Trp)
NM_001143992.2(WRAP53):c.950C>T (p.Thr317Ile)
NM_001218.5(CA12):c.355C>T (p.His119Tyr) rs905385980
NM_001218.5(CA12):c.668G>C (p.Gly223Ala)
NM_001218.5(CA12):c.863_864insACCT (p.Phe289fs) rs2039037448
NM_001283009.2(RTEL1):c.1009G>T (p.Asp337Tyr)
NM_001283009.2(RTEL1):c.1016G>C (p.Ser339Thr)
NM_001283009.2(RTEL1):c.1017C>A (p.Ser339Arg)
NM_001283009.2(RTEL1):c.1019G>C (p.Gly340Ala)
NM_001283009.2(RTEL1):c.101_102+16dup rs1478655064
NM_001283009.2(RTEL1):c.102+3AG[3] rs1555899112
NM_001283009.2(RTEL1):c.1022T>C (p.Val341Ala)
NM_001283009.2(RTEL1):c.1030C>G (p.Pro344Ala)
NM_001283009.2(RTEL1):c.1030C>T (p.Pro344Ser) rs147789792
NM_001283009.2(RTEL1):c.1037+9C>T
NM_001283009.2(RTEL1):c.1038-12T>C
NM_001283009.2(RTEL1):c.1038-5G>A
NM_001283009.2(RTEL1):c.1039T>C (p.Tyr347His)
NM_001283009.2(RTEL1):c.1040A>G (p.Tyr347Cys) rs769658909
NM_001283009.2(RTEL1):c.1060G>A (p.Glu354Lys)
NM_001283009.2(RTEL1):c.1068G>C (p.Gln356His)
NM_001283009.2(RTEL1):c.1069A>T (p.Ile357Phe) rs2090446909
NM_001283009.2(RTEL1):c.106G>A (p.Val36Met)
NM_001283009.2(RTEL1):c.1071C>G (p.Ile357Met)
NM_001283009.2(RTEL1):c.1077T>G (p.Phe359Leu)
NM_001283009.2(RTEL1):c.1088G>A (p.Gly363Asp)
NM_001283009.2(RTEL1):c.1107G>A (p.Leu369=) rs1601138735
NM_001283009.2(RTEL1):c.110A>G (p.Asn37Ser)
NM_001283009.2(RTEL1):c.1111C>G (p.Gln371Glu)
NM_001283009.2(RTEL1):c.1123C>T (p.His375Tyr)
NM_001283009.2(RTEL1):c.1133G>A (p.Gly378Glu)
NM_001283009.2(RTEL1):c.1135+12C>T
NM_001283009.2(RTEL1):c.1139C>G (p.Ala380Gly)
NM_001283009.2(RTEL1):c.1139C>T (p.Ala380Val) rs770836729
NM_001283009.2(RTEL1):c.1144G>C (p.Val382Leu)
NM_001283009.2(RTEL1):c.1145T>C (p.Val382Ala)
NM_001283009.2(RTEL1):c.1149C>G (p.Phe383Leu)
NM_001283009.2(RTEL1):c.1159G>A (p.Ala387Thr) rs2146220003
NM_001283009.2(RTEL1):c.1191+4G>C
NM_001283009.2(RTEL1):c.1192-3C>T rs2145411176
NM_001283009.2(RTEL1):c.1201A>G (p.Ser401Gly)
NM_001283009.2(RTEL1):c.1201A>T (p.Ser401Cys)
NM_001283009.2(RTEL1):c.1209C>A (p.Asp403Glu) rs781077567
NM_001283009.2(RTEL1):c.1210C>A (p.Pro404Thr) rs2090573551
NM_001283009.2(RTEL1):c.1213T>G (p.Ser405Ala)
NM_001283009.2(RTEL1):c.1214C>T (p.Ser405Phe)
NM_001283009.2(RTEL1):c.1229G>C (p.Gly410Ala)
NM_001283009.2(RTEL1):c.1246G>A (p.Gly416Arg) rs772510897
NM_001283009.2(RTEL1):c.1249G>A (p.Ala417Thr)
NM_001283009.2(RTEL1):c.1255C>A (p.Gln419Lys)
NM_001283009.2(RTEL1):c.1255C>G (p.Gln419Glu)
NM_001283009.2(RTEL1):c.1259C>T (p.Ser420Phe)
NM_001283009.2(RTEL1):c.1261T>C (p.Tyr421His)
NM_001283009.2(RTEL1):c.1262A>C (p.Tyr421Ser)
NM_001283009.2(RTEL1):c.1262A>G (p.Tyr421Cys)
NM_001283009.2(RTEL1):c.1266+3del
NM_001283009.2(RTEL1):c.1266+6G>A
NM_001283009.2(RTEL1):c.1267G>A (p.Val423Met)
NM_001283009.2(RTEL1):c.1270C>T (p.His424Tyr) rs1568703945
NM_001283009.2(RTEL1):c.1271A>T (p.His424Leu)
NM_001283009.2(RTEL1):c.1276C>T (p.His426Tyr)
NM_001283009.2(RTEL1):c.127C>T (p.Pro43Ser)
NM_001283009.2(RTEL1):c.1282G>T (p.Asp428Tyr)
NM_001283009.2(RTEL1):c.1286C>A (p.Ala429Asp)
NM_001283009.2(RTEL1):c.1286C>G (p.Ala429Gly) rs149428839
NM_001283009.2(RTEL1):c.1289G>T (p.Gly430Val)
NM_001283009.2(RTEL1):c.1292A>T (p.His431Leu)
NM_001283009.2(RTEL1):c.1295G>A (p.Arg432Gln)
NM_001283009.2(RTEL1):c.1304C>A (p.Ala435Asp)
NM_001283009.2(RTEL1):c.1309C>T (p.Arg437Trp)
NM_001283009.2(RTEL1):c.1310G>A (p.Arg437Gln) rs537151019
NM_001283009.2(RTEL1):c.1318G>T (p.Ala440Ser)
NM_001283009.2(RTEL1):c.1319C>G (p.Ala440Gly)
NM_001283009.2(RTEL1):c.1323G>T (p.Trp441Cys) rs2090580676
NM_001283009.2(RTEL1):c.1331C>A (p.Thr444Asn)
NM_001283009.2(RTEL1):c.1333G>A (p.Ala445Thr)
NM_001283009.2(RTEL1):c.1348+3A>G
NM_001283009.2(RTEL1):c.1348+4C>T
NM_001283009.2(RTEL1):c.1348+6G>T rs371358328
NM_001283009.2(RTEL1):c.1352A>G (p.Lys451Arg)
NM_001283009.2(RTEL1):c.1364A>C (p.Tyr455Ser)
NM_001283009.2(RTEL1):c.1364A>G (p.Tyr455Cys)
NM_001283009.2(RTEL1):c.1364_1366del (p.Tyr455del) rs1555811251
NM_001283009.2(RTEL1):c.1378C>A (p.Pro460Thr)
NM_001283009.2(RTEL1):c.1395C>A (p.His465Gln)
NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys) rs1219409480
NM_001283009.2(RTEL1):c.1403T>G (p.Val468Gly) rs2145419818
NM_001283009.2(RTEL1):c.1405C>T (p.Arg469Cys)
NM_001283009.2(RTEL1):c.1406G>A (p.Arg469His)
NM_001283009.2(RTEL1):c.1406G>T (p.Arg469Leu) rs779627326
NM_001283009.2(RTEL1):c.1410G>T (p.Gln470His)
NM_001283009.2(RTEL1):c.1418G>A (p.Arg473His)
NM_001283009.2(RTEL1):c.1448C>T (p.Ala483Val) rs2090629357
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.1469T>C (p.Leu490Pro) rs2145420008
NM_001283009.2(RTEL1):c.146C>T (p.Thr49Met) rs1163455875
NM_001283009.2(RTEL1):c.1474A>T (p.Met492Leu)
NM_001283009.2(RTEL1):c.1479G>C (p.Gln493His) rs999309460
NM_001283009.2(RTEL1):c.1481+4C>T
NM_001283009.2(RTEL1):c.1481+6G>A
NM_001283009.2(RTEL1):c.1481+8C>G rs758734115
NM_001283009.2(RTEL1):c.1482-10C>T
NM_001283009.2(RTEL1):c.1482-11G>A
NM_001283009.2(RTEL1):c.1482-9C>A rs1601163130
NM_001283009.2(RTEL1):c.1505A>G (p.Asn502Ser) rs2145420924
NM_001283009.2(RTEL1):c.1507C>G (p.Pro503Ala)
NM_001283009.2(RTEL1):c.1508C>T (p.Pro503Leu)
NM_001283009.2(RTEL1):c.1519G>A (p.Asp507Asn)
NM_001283009.2(RTEL1):c.1520A>C (p.Asp507Ala)
NM_001283009.2(RTEL1):c.1520A>G (p.Asp507Gly)
NM_001283009.2(RTEL1):c.1522A>G (p.Lys508Glu) rs2090635139
NM_001283009.2(RTEL1):c.1527C>G (p.His509Gln)
NM_001283009.2(RTEL1):c.1541G>C (p.Gly514Ala)
NM_001283009.2(RTEL1):c.1543G>A (p.Val515Ile) rs1246091092
NM_001283009.2(RTEL1):c.1549C>T (p.Pro517Ser)
NM_001283009.2(RTEL1):c.1553G>C (p.Arg518Thr)
NM_001283009.2(RTEL1):c.1558C>G (p.Pro520Ala) rs763306707
NM_001283009.2(RTEL1):c.1571A>G (p.Gln524Arg)
NM_001283009.2(RTEL1):c.1576A>G (p.Ser526Gly)
NM_001283009.2(RTEL1):c.1582G>A (p.Ala528Thr)
NM_001283009.2(RTEL1):c.1583C>A (p.Ala528Glu) rs760398738
NM_001283009.2(RTEL1):c.1583C>T (p.Ala528Val) rs760398738
NM_001283009.2(RTEL1):c.1596-8G>C rs374702981
NM_001283009.2(RTEL1):c.1601C>A (p.Ser534Tyr)
NM_001283009.2(RTEL1):c.1610G>A (p.Cys537Tyr)
NM_001283009.2(RTEL1):c.1614A>T (p.Leu538Phe)
NM_001283009.2(RTEL1):c.1616C>T (p.Ser539Phe)
NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala) rs863225130
NM_001283009.2(RTEL1):c.1623G>A (p.Leu541=)
NM_001283009.2(RTEL1):c.1636+5G>A
NM_001283009.2(RTEL1):c.1636G>C (p.Gly546Arg)
NM_001283009.2(RTEL1):c.1637-3C>T
NM_001283009.2(RTEL1):c.1637G>A (p.Gly546Asp)
NM_001283009.2(RTEL1):c.163A>G (p.Thr55Ala)
NM_001283009.2(RTEL1):c.163A>T (p.Thr55Ser)
NM_001283009.2(RTEL1):c.1645G>A (p.Ala549Thr) rs1408202470
NM_001283009.2(RTEL1):c.1646C>T (p.Ala549Val) rs752494712
NM_001283009.2(RTEL1):c.1649G>A (p.Arg550His) rs765499822
NM_001283009.2(RTEL1):c.1658C>T (p.Pro553Leu)
NM_001283009.2(RTEL1):c.1660T>C (p.Tyr554His)
NM_001283009.2(RTEL1):c.1661A>C (p.Tyr554Ser)
NM_001283009.2(RTEL1):c.1670T>C (p.Leu557Pro) rs1601164500
NM_001283009.2(RTEL1):c.1672A>G (p.Ile558Val)
NM_001283009.2(RTEL1):c.1673T>A (p.Ile558Asn)
NM_001283009.2(RTEL1):c.1675T>A (p.Phe559Ile) rs747497376
NM_001283009.2(RTEL1):c.1675TTC[1] (p.Phe560del) rs779176651
NM_001283009.2(RTEL1):c.167C>T (p.Thr56Met) rs768910485
NM_001283009.2(RTEL1):c.1721G>A (p.Arg574Gln)
NM_001283009.2(RTEL1):c.1721G>C (p.Arg574Pro)
NM_001283009.2(RTEL1):c.1722+10C>G rs542270397
NM_001283009.2(RTEL1):c.1722+10_1722+11delinsTT
NM_001283009.2(RTEL1):c.1722+4C>T
NM_001283009.2(RTEL1):c.1722+5G>A
NM_001283009.2(RTEL1):c.1726C>T (p.Arg576Cys)
NM_001283009.2(RTEL1):c.1736C>T (p.Ala579Val) rs2145423231
NM_001283009.2(RTEL1):c.173C>G (p.Ala58Gly)
NM_001283009.2(RTEL1):c.1744A>G (p.Met582Val)
NM_001283009.2(RTEL1):c.1744A>T (p.Met582Leu)
NM_001283009.2(RTEL1):c.1750G>T (p.Ala584Ser)
NM_001283009.2(RTEL1):c.1760C>T (p.Pro587Leu)
NM_001283009.2(RTEL1):c.1763T>C (p.Leu588Pro)
NM_001283009.2(RTEL1):c.1783A>G (p.Lys595Glu) rs914471851
NM_001283009.2(RTEL1):c.1796C>A (p.Ser599Tyr)
NM_001283009.2(RTEL1):c.1798G>A (p.Glu600Lys)
NM_001283009.2(RTEL1):c.1800+4G>C rs370973086
NM_001283009.2(RTEL1):c.1800+5G>A
NM_001283009.2(RTEL1):c.1801-3C>T
NM_001283009.2(RTEL1):c.1802C>T (p.Thr601Ile)
NM_001283009.2(RTEL1):c.1805T>C (p.Ile602Thr)
NM_001283009.2(RTEL1):c.1817A>G (p.Tyr606Cys)
NM_001283009.2(RTEL1):c.1820C>G (p.Ala607Gly)
NM_001283009.2(RTEL1):c.1831G>A (p.Ala611Thr)
NM_001283009.2(RTEL1):c.1835C>T (p.Pro612Leu)
NM_001283009.2(RTEL1):c.1843A>G (p.Thr615Ala)
NM_001283009.2(RTEL1):c.1846G>A (p.Gly616Ser)
NM_001283009.2(RTEL1):c.1858C>G (p.Leu620Val) rs368411912
NM_001283009.2(RTEL1):c.1868G>A (p.Cys623Tyr)
NM_001283009.2(RTEL1):c.1870C>T (p.Arg624Trp)
NM_001283009.2(RTEL1):c.1871G>T (p.Arg624Leu)
NM_001283009.2(RTEL1):c.1874G>A (p.Gly625Asp) rs2145425936
NM_001283009.2(RTEL1):c.1876A>G (p.Lys626Glu)
NM_001283009.2(RTEL1):c.187C>G (p.Leu63Val) rs2090017111
NM_001283009.2(RTEL1):c.187C>T (p.Leu63Phe)
NM_001283009.2(RTEL1):c.1885G>A (p.Glu629Lys)
NM_001283009.2(RTEL1):c.1886A>G (p.Glu629Gly)
NM_001283009.2(RTEL1):c.188_190del (p.Leu63del)
NM_001283009.2(RTEL1):c.1909A>T (p.Asn637Tyr)
NM_001283009.2(RTEL1):c.1910A>G (p.Asn637Ser)
NM_001283009.2(RTEL1):c.1915C>T (p.Arg639Cys)
NM_001283009.2(RTEL1):c.1924A>C (p.Ile642Leu)
NM_001283009.2(RTEL1):c.1932G>A (p.Thr644=) rs374107857
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_001283009.2(RTEL1):c.1948C>A (p.Pro650Thr)
NM_001283009.2(RTEL1):c.194A>T (p.Asp65Val)
NM_001283009.2(RTEL1):c.1952G>A (p.Arg651His) rs773159241
NM_001283009.2(RTEL1):c.1954A>C (p.Met652Leu) rs766133842
NM_001283009.2(RTEL1):c.1955T>A (p.Met652Lys)
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.1957G>C (p.Asp653His)
NM_001283009.2(RTEL1):c.1961C>G (p.Pro654Arg)
NM_001283009.2(RTEL1):c.1964G>A (p.Arg655Gln) rs753884575
NM_001283009.2(RTEL1):c.196G>A (p.Gly66Ser) rs755641587
NM_001283009.2(RTEL1):c.197G>T (p.Gly66Val) rs777459653
NM_001283009.2(RTEL1):c.1982A>G (p.Gln661Arg) rs758832096
NM_001283009.2(RTEL1):c.1992T>A (p.Asp664Glu)
NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys)
NM_001283009.2(RTEL1):c.1998G>T (p.Met666Ile)
NM_001283009.2(RTEL1):c.2002G>A (p.Gly668Ser)
NM_001283009.2(RTEL1):c.2003G>A (p.Gly668Asp)
NM_001283009.2(RTEL1):c.2004C>T (p.Gly668=)
NM_001283009.2(RTEL1):c.2006A>G (p.Gln669Arg)
NM_001283009.2(RTEL1):c.2011G>A (p.Gly671Arg)
NM_001283009.2(RTEL1):c.2017G>A (p.Gly673Arg)
NM_001283009.2(RTEL1):c.2021_2025+27dup
NM_001283009.2(RTEL1):c.2025+5G>A rs762945317
NM_001283009.2(RTEL1):c.2026-15C>A
NM_001283009.2(RTEL1):c.2027T>C (p.Phe676Ser)
NM_001283009.2(RTEL1):c.2028C>T (p.Phe676=)
NM_001283009.2(RTEL1):c.2035G>A (p.Gly679Arg) rs1229240096
NM_001283009.2(RTEL1):c.2039A>T (p.Gln680Leu)
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
NM_001283009.2(RTEL1):c.2050C>T (p.Arg684Trp)
NM_001283009.2(RTEL1):c.205G>A (p.Ala69Thr) rs768524684
NM_001283009.2(RTEL1):c.2060C>T (p.Ala687Val)
NM_001283009.2(RTEL1):c.2083A>G (p.Ile695Val) rs2090684109
NM_001283009.2(RTEL1):c.2087G>A (p.Gly696Glu)
NM_001283009.2(RTEL1):c.208C>G (p.Arg70Gly)
NM_001283009.2(RTEL1):c.2099G>A (p.Arg700Gln)
NM_001283009.2(RTEL1):c.209G>A (p.Arg70His) rs61736616
NM_001283009.2(RTEL1):c.209G>T (p.Arg70Leu)
NM_001283009.2(RTEL1):c.2104C>T (p.Arg702Cys)
NM_001283009.2(RTEL1):c.2110G>A (p.Asp704Asn)
NM_001283009.2(RTEL1):c.2110_2112delinsAAT (p.Asp704Asn)
NM_001283009.2(RTEL1):c.2137C>G (p.His713Asp) rs2145429206
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2142-3C>T
NM_001283009.2(RTEL1):c.2142-3del rs755965232
NM_001283009.2(RTEL1):c.2142G>A (p.Arg714=) rs2145430556
NM_001283009.2(RTEL1):c.2142G>C (p.Arg714Ser)
NM_001283009.2(RTEL1):c.2152G>C (p.Ala718Pro)
NM_001283009.2(RTEL1):c.2159C>T (p.Ala720Val) rs2145430644
NM_001283009.2(RTEL1):c.215T>C (p.Ile72Thr)
NM_001283009.2(RTEL1):c.2162G>A (p.Arg721Lys)
NM_001283009.2(RTEL1):c.2164G>A (p.Ala722Thr)
NM_001283009.2(RTEL1):c.2164G>T (p.Ala722Ser) rs2090697243
NM_001283009.2(RTEL1):c.2169A>C (p.Gln723His)
NM_001283009.2(RTEL1):c.2169A>G (p.Gln723=) rs1224602711
NM_001283009.2(RTEL1):c.217G>A (p.Ala73Thr)
NM_001283009.2(RTEL1):c.2182G>A (p.Val728Met)
NM_001283009.2(RTEL1):c.2185C>T (p.Arg729Cys) rs1555811919
NM_001283009.2(RTEL1):c.2186G>A (p.Arg729His)
NM_001283009.2(RTEL1):c.2194G>A (p.Val732Ile) rs142039934
NM_001283009.2(RTEL1):c.2206_2208del (p.Asp736del)
NM_001283009.2(RTEL1):c.2210A>G (p.Asn737Ser)
NM_001283009.2(RTEL1):c.2211C>G (p.Asn737Lys)
NM_001283009.2(RTEL1):c.2222_2223delinsGT (p.Val741Gly)
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2233G>C (p.Val745Leu)
NM_001283009.2(RTEL1):c.2237C>T (p.Ala746Val)
NM_001283009.2(RTEL1):c.2248C>T (p.Arg750Cys) rs2090699912
NM_001283009.2(RTEL1):c.2249G>A (p.Arg750His) rs758667681
NM_001283009.2(RTEL1):c.2249G>T (p.Arg750Leu) rs758667681
NM_001283009.2(RTEL1):c.2257G>A (p.Glu753Lys)
NM_001283009.2(RTEL1):c.2261G>T (p.Arg754Leu) rs141423196
NM_001283009.2(RTEL1):c.2265T>G (p.Thr755=)
NM_001283009.2(RTEL1):c.2268G>A (p.Met756Ile)
NM_001283009.2(RTEL1):c.2269C>A (p.Pro757Thr) rs1348818075
NM_001283009.2(RTEL1):c.2274_2275delinsAG (p.Pro759Ala) rs1601171438
NM_001283009.2(RTEL1):c.2276C>G (p.Pro759Arg)
NM_001283009.2(RTEL1):c.2276C>T (p.Pro759Leu)
NM_001283009.2(RTEL1):c.2278G>C (p.Ala760Pro)
NM_001283009.2(RTEL1):c.2281C>T (p.Pro761Ser)
NM_001283009.2(RTEL1):c.2284C>G (p.Arg762Gly) rs750251447
NM_001283009.2(RTEL1):c.2285G>A (p.Arg762Gln)
NM_001283009.2(RTEL1):c.2291C>A (p.Thr764Lys)
NM_001283009.2(RTEL1):c.2291C>T (p.Thr764Ile) rs767774517
NM_001283009.2(RTEL1):c.2297C>T (p.Pro766Leu)
NM_001283009.2(RTEL1):c.2305C>T (p.Arg769Cys)
NM_001283009.2(RTEL1):c.2309_2311del (p.Gly770del) rs1555812033
NM_001283009.2(RTEL1):c.2323A>G (p.Ser775Gly)
NM_001283009.2(RTEL1):c.2324G>T (p.Ser775Ile)
NM_001283009.2(RTEL1):c.2326G>A (p.Glu776Lys)
NM_001283009.2(RTEL1):c.2326G>C (p.Glu776Gln) rs746677388
NM_001283009.2(RTEL1):c.2327A>G (p.Glu776Gly)
NM_001283009.2(RTEL1):c.2333A>G (p.Lys778Arg)
NM_001283009.2(RTEL1):c.2334G>C (p.Lys778Asn)
NM_001283009.2(RTEL1):c.2337G>A (p.Ser779=) rs769675904
NM_001283009.2(RTEL1):c.2339C>T (p.Pro780Leu)
NM_001283009.2(RTEL1):c.2345C>T (p.Pro782Leu) rs764157833
NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del) rs771771098
NM_001283009.2(RTEL1):c.2353_2355del (p.Ser785del)
NM_001283009.2(RTEL1):c.2354C>G (p.Ser785Cys)
NM_001283009.2(RTEL1):c.2366C>G (p.Ala789Gly) rs2090707111
NM_001283009.2(RTEL1):c.2368A>G (p.Lys790Glu)
NM_001283009.2(RTEL1):c.2369A>G (p.Lys790Arg)
NM_001283009.2(RTEL1):c.2371A>T (p.Ser791Cys)
NM_001283009.2(RTEL1):c.2377G>A (p.Asp793Asn)
NM_001283009.2(RTEL1):c.2377G>T (p.Asp793Tyr)
NM_001283009.2(RTEL1):c.2379C>A (p.Asp793Glu)
NM_001283009.2(RTEL1):c.2384A>G (p.His795Arg) rs2145432169
NM_001283009.2(RTEL1):c.2386G>C (p.Val796Leu)
NM_001283009.2(RTEL1):c.2387T>A (p.Val796Asp)
NM_001283009.2(RTEL1):c.2389C>G (p.Pro797Ala) rs2090707732
NM_001283009.2(RTEL1):c.2393G>C (p.Ser798Thr)
NM_001283009.2(RTEL1):c.2393G>T (p.Ser798Ile)
NM_001283009.2(RTEL1):c.2395C>G (p.Leu799Val) rs1601171872
NM_001283009.2(RTEL1):c.2401C>G (p.Gln801Glu)
NM_001283009.2(RTEL1):c.2405G>A (p.Arg802Lys)
NM_001283009.2(RTEL1):c.2410T>C (p.Ser804Pro) rs2145432315
NM_001283009.2(RTEL1):c.2413+4C>G
NM_001283009.2(RTEL1):c.2413+5G>C rs750836127
NM_001283009.2(RTEL1):c.2414G>A (p.Gly805Glu)
NM_001283009.2(RTEL1):c.2417C>T (p.Ser806Leu)
NM_001283009.2(RTEL1):c.2419C>T (p.Pro807Ser)
NM_001283009.2(RTEL1):c.2422G>A (p.Ala808Thr)
NM_001283009.2(RTEL1):c.2428G>C (p.Gly810Arg)
NM_001283009.2(RTEL1):c.2431G>A (p.Asp811Asn)
NM_001283009.2(RTEL1):c.2431G>T (p.Asp811Tyr)
NM_001283009.2(RTEL1):c.2434C>A (p.Pro812Thr) rs1601173488
NM_001283009.2(RTEL1):c.2435C>G (p.Pro812Arg)
NM_001283009.2(RTEL1):c.2437G>A (p.Glu813Lys)
NM_001283009.2(RTEL1):c.2441G>A (p.Ser814Asn)
NM_001283009.2(RTEL1):c.2441G>C (p.Ser814Thr)
NM_001283009.2(RTEL1):c.2441G>T (p.Ser814Ile)
NM_001283009.2(RTEL1):c.2443A>G (p.Ser815Gly)
NM_001283009.2(RTEL1):c.2446C>G (p.Leu816Val) rs2145434398
NM_001283009.2(RTEL1):c.2449T>C (p.Cys817Arg)
NM_001283009.2(RTEL1):c.2450G>A (p.Cys817Tyr)
NM_001283009.2(RTEL1):c.2456A>G (p.Glu819Gly)
NM_001283009.2(RTEL1):c.2458_2459insTCA (p.Tyr820delinsPheAsn) rs1254325984
NM_001283009.2(RTEL1):c.2461G>A (p.Glu821Lys)
NM_001283009.2(RTEL1):c.2469G>T (p.Glu823Asp)
NM_001283009.2(RTEL1):c.2471C>A (p.Pro824Gln) rs769874593
NM_001283009.2(RTEL1):c.2473G>A (p.Val825Ile)
NM_001283009.2(RTEL1):c.2476C>T (p.Pro826Ser)
NM_001283009.2(RTEL1):c.2480C>T (p.Ala827Val)
NM_001283009.2(RTEL1):c.2482C>T (p.Arg828Trp)
NM_001283009.2(RTEL1):c.2488A>T (p.Arg830Trp)
NM_001283009.2(RTEL1):c.2509G>T (p.Ala837Ser)
NM_001283009.2(RTEL1):c.2510C>T (p.Ala837Val)
NM_001283009.2(RTEL1):c.2519A>G (p.His840Arg)
NM_001283009.2(RTEL1):c.251G>A (p.Arg84Gln)
NM_001283009.2(RTEL1):c.251G>C (p.Arg84Pro)
NM_001283009.2(RTEL1):c.2524G>A (p.Glu842Lys)
NM_001283009.2(RTEL1):c.2526A>C (p.Glu842Asp) rs2145434771
NM_001283009.2(RTEL1):c.2528A>G (p.Gln843Arg) rs2090724190
NM_001283009.2(RTEL1):c.2536G>C (p.Gly846Arg)
NM_001283009.2(RTEL1):c.253G>A (p.Ala85Thr)
NM_001283009.2(RTEL1):c.2540G>A (p.Ser847Asn) rs545991923
NM_001283009.2(RTEL1):c.2544_2545delinsCC (p.Gly849Arg) rs2145434898
NM_001283009.2(RTEL1):c.2544_2545delinsCT (p.Gly849Cys) rs2145434898
NM_001283009.2(RTEL1):c.2544_2545inv (p.Gly849Ser)
NM_001283009.2(RTEL1):c.2544_2548delinsCGGCA (p.Glu850Lys)
NM_001283009.2(RTEL1):c.2556+5A>G
NM_001283009.2(RTEL1):c.2557-10T>G
NM_001283009.2(RTEL1):c.2557-19_2557-6del
NM_001283009.2(RTEL1):c.2557-5_2557-3del rs1279921309
NM_001283009.2(RTEL1):c.2560C>G (p.His854Asp) rs780005986
NM_001283009.2(RTEL1):c.2567G>A (p.Cys856Tyr)
NM_001283009.2(RTEL1):c.2570C>T (p.Ser857Phe)
NM_001283009.2(RTEL1):c.2576T>C (p.Leu859Pro)
NM_001283009.2(RTEL1):c.2581C>T (p.Leu861Phe)
NM_001283009.2(RTEL1):c.2585T>G (p.Leu862Arg) rs765909720
NM_001283009.2(RTEL1):c.2588C>T (p.Ser863Phe) rs1029017182
NM_001283009.2(RTEL1):c.2591A>C (p.Glu864Ala) rs2145439184
NM_001283009.2(RTEL1):c.2599C>G (p.Pro867Ala)
NM_001283009.2(RTEL1):c.259T>C (p.Ser87Pro)
NM_001283009.2(RTEL1):c.2600C>G (p.Pro867Arg)
NM_001283009.2(RTEL1):c.2602G>A (p.Ala868Thr) rs2090751615
NM_001283009.2(RTEL1):c.2605GAA[1] (p.Glu870del) rs1555812456
NM_001283009.2(RTEL1):c.260C>T (p.Ser87Leu)
NM_001283009.2(RTEL1):c.2615G>A (p.Arg872Gln)
NM_001283009.2(RTEL1):c.2616AGG[1] (p.Gly874del)
NM_001283009.2(RTEL1):c.2617G>A (p.Gly873Arg) rs2090752058
NM_001283009.2(RTEL1):c.2618G>A (p.Gly873Glu)
NM_001283009.2(RTEL1):c.2620G>T (p.Gly874Trp)
NM_001283009.2(RTEL1):c.2622G>T (p.Gly874=)
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del) rs1555812473
NM_001283009.2(RTEL1):c.2634C>G (p.Ile878Met)
NM_001283009.2(RTEL1):c.2636G>A (p.Arg879Gln) rs770539835
NM_001283009.2(RTEL1):c.2636G>C (p.Arg879Pro) rs770539835
NM_001283009.2(RTEL1):c.2636G>T (p.Arg879Leu) rs770539835
NM_001283009.2(RTEL1):c.263C>T (p.Ser88Phe) rs758172246
NM_001283009.2(RTEL1):c.2645G>A (p.Ser882Asn)
NM_001283009.2(RTEL1):c.2646C>G (p.Ser882Arg)
NM_001283009.2(RTEL1):c.2647C>A (p.His883Asn)
NM_001283009.2(RTEL1):c.2651C>G (p.Pro884Arg)
NM_001283009.2(RTEL1):c.2652+5G>A rs1555812507
NM_001283009.2(RTEL1):c.2653-7C>G rs1472538837
NM_001283009.2(RTEL1):c.2653G>C (p.Glu885Gln) rs2090784564
NM_001283009.2(RTEL1):c.2654A>G (p.Glu885Gly)
NM_001283009.2(RTEL1):c.2656G>A (p.Glu886Lys)
NM_001283009.2(RTEL1):c.2658G>T (p.Glu886Asp)
NM_001283009.2(RTEL1):c.2659C>T (p.Pro887Ser) rs1399014030
NM_001283009.2(RTEL1):c.265T>C (p.Trp89Arg) rs2090019014
NM_001283009.2(RTEL1):c.2660C>T (p.Pro887Leu) rs1568717000
NM_001283009.2(RTEL1):c.2662G>A (p.Val888Met) rs200505378
NM_001283009.2(RTEL1):c.2663T>G (p.Val888Gly)
NM_001283009.2(RTEL1):c.2665G>C (p.Ala889Pro)
NM_001283009.2(RTEL1):c.2682C>G (p.Asp894Glu) rs535831345
NM_001283009.2(RTEL1):c.2683A>G (p.Arg895Gly) rs2090785759
NM_001283009.2(RTEL1):c.2683A>T (p.Arg895Trp)
NM_001283009.2(RTEL1):c.2684G>A (p.Arg895Lys) rs150564915
NM_001283009.2(RTEL1):c.2684G>C (p.Arg895Thr)
NM_001283009.2(RTEL1):c.2686G>A (p.Ala896Thr)
NM_001283009.2(RTEL1):c.2690A>G (p.Lys897Arg)
NM_001283009.2(RTEL1):c.2698A>C (p.Met900Leu) rs749041304
NM_001283009.2(RTEL1):c.2698A>G (p.Met900Val)
NM_001283009.2(RTEL1):c.2699T>G (p.Met900Arg)
NM_001283009.2(RTEL1):c.2700G>A (p.Met900Ile) rs2145445906
NM_001283009.2(RTEL1):c.2713C>G (p.Gln905Glu) rs768610590
NM_001283009.2(RTEL1):c.2714A>C (p.Gln905Pro) rs2090786703
NM_001283009.2(RTEL1):c.2715G>C (p.Gln905His) rs1278177922
NM_001283009.2(RTEL1):c.2718G>C (p.Glu906Asp)
NM_001283009.2(RTEL1):c.271A>G (p.Asn91Asp)
NM_001283009.2(RTEL1):c.2721G>T (p.Leu907Phe)
NM_001283009.2(RTEL1):c.2722A>G (p.Ser908Gly) rs2090787000
NM_001283009.2(RTEL1):c.2726A>C (p.Gln909Pro)
NM_001283009.2(RTEL1):c.2729C>T (p.Ala910Val)
NM_001283009.2(RTEL1):c.272A>G (p.Asn91Ser) rs941773443
NM_001283009.2(RTEL1):c.272A>T (p.Asn91Ile)
NM_001283009.2(RTEL1):c.2732A>G (p.Asn911Ser)
NM_001283009.2(RTEL1):c.2733C>G (p.Asn911Lys) rs372027131
NM_001283009.2(RTEL1):c.2734T>C (p.Phe912Leu)
NM_001283009.2(RTEL1):c.2740A>G (p.Thr914Ala)
NM_001283009.2(RTEL1):c.2745C>G (p.Phe915Leu) rs1376717154
NM_001283009.2(RTEL1):c.2746A>T (p.Thr916Ser)
NM_001283009.2(RTEL1):c.2747C>G (p.Thr916Ser)
NM_001283009.2(RTEL1):c.274G>A (p.Ala92Thr) rs1404412328
NM_001283009.2(RTEL1):c.2755C>G (p.Leu919Val)
NM_001283009.2(RTEL1):c.2759A>G (p.Gln920Arg) rs2090788449
NM_001283009.2(RTEL1):c.275C>G (p.Ala92Gly)
NM_001283009.2(RTEL1):c.275CTG[4] (p.Ala96del)
NM_001283009.2(RTEL1):c.275CTG[6] (p.Ala96dup) rs769909059
NM_001283009.2(RTEL1):c.275CTG[7] (p.Ala95_Ala96dup) rs769909059
NM_001283009.2(RTEL1):c.2762A>G (p.Asp921Gly)
NM_001283009.2(RTEL1):c.2765A>G (p.Tyr922Cys)
NM_001283009.2(RTEL1):c.2767A>G (p.Lys923Glu)
NM_001283009.2(RTEL1):c.2771G>A (p.Gly924Asp)
NM_001283009.2(RTEL1):c.2774C>A (p.Ser925Tyr)
NM_001283009.2(RTEL1):c.2774C>G (p.Ser925Cys) rs770018942
NM_001283009.2(RTEL1):c.2774C>T (p.Ser925Phe)
NM_001283009.2(RTEL1):c.2779G>A (p.Asp927Asn)
NM_001283009.2(RTEL1):c.277G>A (p.Ala93Thr) rs2146149148
NM_001283009.2(RTEL1):c.2784_2785delinsTC (p.Ala929Pro)
NM_001283009.2(RTEL1):c.2788G>C (p.Ala930Pro) rs371721039
NM_001283009.2(RTEL1):c.2794G>A (p.Ala932Thr)
NM_001283009.2(RTEL1):c.2797G>A (p.Ala933Thr) rs781430438
NM_001283009.2(RTEL1):c.2797G>T (p.Ala933Ser) rs781430438
NM_001283009.2(RTEL1):c.2801G>A (p.Cys934Tyr) rs1263651818
NM_001283009.2(RTEL1):c.2801G>C (p.Cys934Ser) rs1263651818
NM_001283009.2(RTEL1):c.2806G>A (p.Gly936Ser)
NM_001283009.2(RTEL1):c.2807G>T (p.Gly936Val)
NM_001283009.2(RTEL1):c.280G>A (p.Ala94Thr) rs371690600
NM_001283009.2(RTEL1):c.2810C>G (p.Pro937Arg)
NM_001283009.2(RTEL1):c.2812C>G (p.Leu938Val)
NM_001283009.2(RTEL1):c.2813T>C (p.Leu938Pro)
NM_001283009.2(RTEL1):c.2821G>A (p.Glu941Lys)
NM_001283009.2(RTEL1):c.2822A>C (p.Glu941Ala)
NM_001283009.2(RTEL1):c.2825A>G (p.Asp942Gly)
NM_001283009.2(RTEL1):c.2827C>G (p.Pro943Ala)
NM_001283009.2(RTEL1):c.2827C>T (p.Pro943Ser)
NM_001283009.2(RTEL1):c.2828C>G (p.Pro943Arg) rs142969505
NM_001283009.2(RTEL1):c.2828C>T (p.Pro943Leu) rs142969505
NM_001283009.2(RTEL1):c.2830A>G (p.Lys944Glu)
NM_001283009.2(RTEL1):c.2831A>G (p.Lys944Arg)
NM_001283009.2(RTEL1):c.2832G>C (p.Lys944Asn)
NM_001283009.2(RTEL1):c.2833A>G (p.Lys945Glu)
NM_001283009.2(RTEL1):c.2836C>T (p.His946Tyr) rs1375502785
NM_001283009.2(RTEL1):c.2838C>G (p.His946Gln)
NM_001283009.2(RTEL1):c.2839A>C (p.Asn947His)
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser) rs761268803
NM_001283009.2(RTEL1):c.2843T>G (p.Leu948Arg)
NM_001283009.2(RTEL1):c.2849A>G (p.Gln950Arg) rs2145447147
NM_001283009.2(RTEL1):c.2851+10C>T
NM_001283009.2(RTEL1):c.2851+4C>T rs751450627
NM_001283009.2(RTEL1):c.2851+5C>T
NM_001283009.2(RTEL1):c.2851+6C>G rs1601183088
NM_001283009.2(RTEL1):c.2852-12C>T rs745776915
NM_001283009.2(RTEL1):c.2852-3C>T
NM_001283009.2(RTEL1):c.2852G>C (p.Gly951Ala) rs925928624
NM_001283009.2(RTEL1):c.2854T>C (p.Phe952Leu) rs1601184120
NM_001283009.2(RTEL1):c.2857T>C (p.Tyr953His)
NM_001283009.2(RTEL1):c.2860C>A (p.Gln954Lys) rs1159070520
NM_001283009.2(RTEL1):c.2860C>G (p.Gln954Glu)
NM_001283009.2(RTEL1):c.2861A>G (p.Gln954Arg)
NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=) rs398123018
NM_001283009.2(RTEL1):c.2870G>C (p.Arg957Pro)
NM_001283009.2(RTEL1):c.2875C>T (p.His959Tyr) rs1334634497
NM_001283009.2(RTEL1):c.287C>G (p.Ala96Gly)
NM_001283009.2(RTEL1):c.2882A>G (p.Lys961Arg) rs2145448755
NM_001283009.2(RTEL1):c.2884C>A (p.Gln962Lys)
NM_001283009.2(RTEL1):c.2884C>G (p.Gln962Glu)
NM_001283009.2(RTEL1):c.2891T>A (p.Phe964Tyr)
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.2893G>A (p.Glu965Lys)
NM_001283009.2(RTEL1):c.2893G>C (p.Glu965Gln)
NM_001283009.2(RTEL1):c.2895G>C (p.Glu965Asp) rs745327960
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=) rs115464632
NM_001283009.2(RTEL1):c.2899G>A (p.Val967Ile)
NM_001283009.2(RTEL1):c.2899G>T (p.Val967Phe)
NM_001283009.2(RTEL1):c.2905A>G (p.Ile969Val)
NM_001283009.2(RTEL1):c.2909A>G (p.Gln970Arg) rs2090804992
NM_001283009.2(RTEL1):c.2909A>T (p.Gln970Leu) rs2090804992
NM_001283009.2(RTEL1):c.2910G>C (p.Gln970His)
NM_001283009.2(RTEL1):c.2915C>A (p.Thr972Lys) rs199834369
NM_001283009.2(RTEL1):c.2917G>A (p.Gly973Arg)
NM_001283009.2(RTEL1):c.2918G>A (p.Gly973Glu) rs2145448980
NM_001283009.2(RTEL1):c.2921G>C (p.Arg974Pro)
NM_001283009.2(RTEL1):c.2924G>A (p.Gly975Asp)
NM_001283009.2(RTEL1):c.2924G>C (p.Gly975Ala) rs757725471
NM_001283009.2(RTEL1):c.2928T>G (p.Cys976Trp)
NM_001283009.2(RTEL1):c.2930G>A (p.Gly977Asp) rs2145449091
NM_001283009.2(RTEL1):c.2932T>C (p.Tyr978His) rs534046818
NM_001283009.2(RTEL1):c.2933A>G (p.Tyr978Cys) rs750109305
NM_001283009.2(RTEL1):c.2933A>T (p.Tyr978Phe) rs750109305
NM_001283009.2(RTEL1):c.2936G>A (p.Arg979Gln)
NM_001283009.2(RTEL1):c.2939C>T (p.Pro980Leu) rs1340326956
NM_001283009.2(RTEL1):c.2941G>A (p.Glu981Lys)
NM_001283009.2(RTEL1):c.2943G>C (p.Glu981Asp)
NM_001283009.2(RTEL1):c.2944C>T (p.His982Tyr)
NM_001283009.2(RTEL1):c.2945A>G (p.His982Arg)
NM_001283009.2(RTEL1):c.2947A>G (p.Ser983Gly)
NM_001283009.2(RTEL1):c.2948G>A (p.Ser983Asn)
NM_001283009.2(RTEL1):c.2948G>C (p.Ser983Thr)
NM_001283009.2(RTEL1):c.2950A>C (p.Ile984Leu)
NM_001283009.2(RTEL1):c.2953C>A (p.Pro985Thr) rs772031890
NM_001283009.2(RTEL1):c.2954C>A (p.Pro985His) rs1462195263
NM_001283009.2(RTEL1):c.2957G>T (p.Arg986Leu)
NM_001283009.2(RTEL1):c.2966G>A (p.Arg989Gln)
NM_001283009.2(RTEL1):c.2966G>C (p.Arg989Pro)
NM_001283009.2(RTEL1):c.2968G>A (p.Ala990Thr) rs751124641
NM_001283009.2(RTEL1):c.2969C>G (p.Ala990Gly)
NM_001283009.2(RTEL1):c.2969C>T (p.Ala990Val) rs370171864
NM_001283009.2(RTEL1):c.2971_2972delinsAG (p.Gln991Arg)
NM_001283009.2(RTEL1):c.2973G>C (p.Gln991His)
NM_001283009.2(RTEL1):c.2974C>T (p.Pro992Ser)
NM_001283009.2(RTEL1):c.2975C>G (p.Pro992Arg) rs143967591
NM_001283009.2(RTEL1):c.2979C>A (p.Val993=) rs116365288
NM_001283009.2(RTEL1):c.2980C>G (p.Leu994Val) rs2145449535
NM_001283009.2(RTEL1):c.2981T>C (p.Leu994Pro) rs1453207384
NM_001283009.2(RTEL1):c.2981T>G (p.Leu994Arg)
NM_001283009.2(RTEL1):c.2983G>A (p.Asp995Asn) rs202020298
NM_001283009.2(RTEL1):c.2983G>C (p.Asp995His)
NM_001283009.2(RTEL1):c.2983G>T (p.Asp995Tyr)
NM_001283009.2(RTEL1):c.2985C>A (p.Asp995Glu) rs762474261
NM_001283009.2(RTEL1):c.2985C>G (p.Asp995Glu) rs762474261
NM_001283009.2(RTEL1):c.2987C>G (p.Pro996Arg) rs373210484
NM_001283009.2(RTEL1):c.2987C>T (p.Pro996Leu) rs373210484
NM_001283009.2(RTEL1):c.2989A>G (p.Thr997Ala)
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser) rs1046295138
NM_001283009.2(RTEL1):c.2991T>C (p.Thr997=) rs2145449639
NM_001283009.2(RTEL1):c.2992+13C>A
NM_001283009.2(RTEL1):c.2992+16G>A
NM_001283009.2(RTEL1):c.2992+17G>T
NM_001283009.2(RTEL1):c.2992+4A>C
NM_001283009.2(RTEL1):c.2992+6T>C
NM_001283009.2(RTEL1):c.2992+8G>A rs1236751268
NM_001283009.2(RTEL1):c.2992+8G>C
NM_001283009.2(RTEL1):c.2992+9G>A
NM_001283009.2(RTEL1):c.2993-3C>T
NM_001283009.2(RTEL1):c.2993-4T>G
NM_001283009.2(RTEL1):c.2995A>G (p.Arg999Gly)
NM_001283009.2(RTEL1):c.2996G>A (p.Arg999Lys)
NM_001283009.2(RTEL1):c.3001G>A (p.Ala1001Thr)
NM_001283009.2(RTEL1):c.3005C>A (p.Pro1002Gln)
NM_001283009.2(RTEL1):c.3005C>G (p.Pro1002Arg) rs767735975
NM_001283009.2(RTEL1):c.3005C>T (p.Pro1002Leu)
NM_001283009.2(RTEL1):c.3008A>C (p.Asp1003Ala) rs2090912360
NM_001283009.2(RTEL1):c.301+3G>A
NM_001283009.2(RTEL1):c.301+5C>T
NM_001283009.2(RTEL1):c.3010C>G (p.Pro1004Ala)
NM_001283009.2(RTEL1):c.3014A>G (p.Lys1005Arg)
NM_001283009.2(RTEL1):c.3014A>T (p.Lys1005Met)
NM_001283009.2(RTEL1):c.302-6G>C
NM_001283009.2(RTEL1):c.3020C>T (p.Thr1007Ile) rs776712596
NM_001283009.2(RTEL1):c.3022G>C (p.Val1008Leu)
NM_001283009.2(RTEL1):c.3023T>G (p.Val1008Gly)
NM_001283009.2(RTEL1):c.3028A>C (p.Thr1010Pro) rs2145470968
NM_001283009.2(RTEL1):c.3029C>T (p.Thr1010Met) rs750539539
NM_001283009.2(RTEL1):c.3031G>A (p.Ala1011Thr)
NM_001283009.2(RTEL1):c.3034G>T (p.Ala1012Ser)
NM_001283009.2(RTEL1):c.3035C>A (p.Ala1012Glu)
NM_001283009.2(RTEL1):c.3044A>G (p.Gln1015Arg)
NM_001283009.2(RTEL1):c.3045G>C (p.Gln1015His) rs2145471144
NM_001283009.2(RTEL1):c.3046C>T (p.Leu1016=) rs1601194528
NM_001283009.2(RTEL1):c.3049G>C (p.Asp1017His) rs61736617
NM_001283009.2(RTEL1):c.3049G>T (p.Asp1017Tyr)
NM_001283009.2(RTEL1):c.304T>C (p.Cys102Arg)
NM_001283009.2(RTEL1):c.3053_3070dup (p.Asn1023_Gln1024insProGlnGluHisLeuAsn)
NM_001283009.2(RTEL1):c.3055C>G (p.Gln1019Glu) rs1435090971
NM_001283009.2(RTEL1):c.3058G>C (p.Glu1020Gln)
NM_001283009.2(RTEL1):c.3059A>G (p.Glu1020Gly) rs2090914407
NM_001283009.2(RTEL1):c.3060G>C (p.Glu1020Asp)
NM_001283009.2(RTEL1):c.3062A>T (p.His1021Leu) rs1345368614
NM_001283009.2(RTEL1):c.3069C>G (p.Asn1023Lys) rs773448494
NM_001283009.2(RTEL1):c.3074G>A (p.Gly1025Asp)
NM_001283009.2(RTEL1):c.3077G>T (p.Arg1026Met) rs1448735633
NM_001283009.2(RTEL1):c.3079C>T (p.Pro1027Ser) rs2090915113
NM_001283009.2(RTEL1):c.307T>C (p.Tyr103His)
NM_001283009.2(RTEL1):c.3083A>C (p.His1028Pro)
NM_001283009.2(RTEL1):c.3085C>G (p.Leu1029Val)
NM_001283009.2(RTEL1):c.3089C>G (p.Ser1030Trp) rs756579704
NM_001283009.2(RTEL1):c.3091C>T (p.Pro1031Ser) rs912272913
NM_001283009.2(RTEL1):c.3092C>T (p.Pro1031Leu)
NM_001283009.2(RTEL1):c.3096G>T (p.Arg1032Ser)
NM_001283009.2(RTEL1):c.3100C>T (p.Pro1034Ser)
NM_001283009.2(RTEL1):c.3104C>G (p.Pro1035Arg)
NM_001283009.2(RTEL1):c.3109+14G>T
NM_001283009.2(RTEL1):c.3109+5C>G
NM_001283009.2(RTEL1):c.3110-10C>G rs2090927100
NM_001283009.2(RTEL1):c.3110G>A (p.Gly1037Glu)
NM_001283009.2(RTEL1):c.3114C>A (p.Asp1038Glu) rs746139882
NM_001283009.2(RTEL1):c.3116C>G (p.Pro1039Arg)
NM_001283009.2(RTEL1):c.3118G>T (p.Gly1040Cys)
NM_001283009.2(RTEL1):c.3119G>T (p.Gly1040Val)
NM_001283009.2(RTEL1):c.311C>A (p.Thr104Lys) rs367809459
NM_001283009.2(RTEL1):c.311C>T (p.Thr104Met) rs367809459
NM_001283009.2(RTEL1):c.312G>A (p.Thr104=) rs1348086708
NM_001283009.2(RTEL1):c.3131A>G (p.Gln1044Arg) rs1350870028
NM_001283009.2(RTEL1):c.3136_3138del (p.Gly1046del) rs1555814207
NM_001283009.2(RTEL1):c.3143G>A (p.Gly1048Glu)
NM_001283009.2(RTEL1):c.3149C>G (p.Pro1050Arg)
NM_001283009.2(RTEL1):c.3155C>G (p.Ala1052Gly) rs1479396091
NM_001283009.2(RTEL1):c.316A>T (p.Ile106Phe) rs2090027158
NM_001283009.2(RTEL1):c.3171G>T (p.Gln1057His)
NM_001283009.2(RTEL1):c.3178G>T (p.Val1060Leu)
NM_001283009.2(RTEL1):c.3182G>A (p.Ser1061Asn) rs1167219600
NM_001283009.2(RTEL1):c.3185C>T (p.Ala1062Val)
NM_001283009.2(RTEL1):c.3186C>T (p.Ala1062=)
NM_001283009.2(RTEL1):c.31G>A (p.Val11Ile)
NM_001283009.2(RTEL1):c.3212T>C (p.Leu1071Pro)
NM_001283009.2(RTEL1):c.3217T>G (p.Ser1073Ala)
NM_001283009.2(RTEL1):c.3223G>T (p.Gly1075Cys) rs1431515751
NM_001283009.2(RTEL1):c.3235C>G (p.Leu1079Val)
NM_001283009.2(RTEL1):c.3238T>G (p.Leu1080Val)
NM_001283009.2(RTEL1):c.3245C>T (p.Ala1082Val)
NM_001283009.2(RTEL1):c.3253G>T (p.Ala1085Ser)
NM_001283009.2(RTEL1):c.3257A>G (p.Tyr1086Cys)
NM_001283009.2(RTEL1):c.3259A>G (p.Lys1087Glu)
NM_001283009.2(RTEL1):c.3261G>T (p.Lys1087Asn)
NM_001283009.2(RTEL1):c.3262C>G (p.Gln1088Glu) rs918462634
NM_001283009.2(RTEL1):c.3265GAC[2] (p.Asp1091del) rs1568724567
NM_001283009.2(RTEL1):c.3271G>A (p.Asp1091Asn)
NM_001283009.2(RTEL1):c.3274C>T (p.Leu1092Phe)
NM_001283009.2(RTEL1):c.3275T>C (p.Leu1092Pro)
NM_001283009.2(RTEL1):c.3277G>C (p.Asp1093His)
NM_001283009.2(RTEL1):c.3279C>G (p.Asp1093Glu)
NM_001283009.2(RTEL1):c.3282G>T (p.Lys1094Asn) rs778086975
NM_001283009.2(RTEL1):c.3283G>A (p.Val1095Met) rs757602436
NM_001283009.2(RTEL1):c.3286C>G (p.Leu1096Val)
NM_001283009.2(RTEL1):c.3291_3299del (p.1095VLA[1])
NM_001283009.2(RTEL1):c.3292G>A (p.Val1098Met)
NM_001283009.2(RTEL1):c.3292G>C (p.Val1098Leu)
NM_001283009.2(RTEL1):c.3293T>C (p.Val1098Ala)
NM_001283009.2(RTEL1):c.3296T>G (p.Leu1099Trp) rs199998697
NM_001283009.2(RTEL1):c.3304C>G (p.Leu1102Val)
NM_001283009.2(RTEL1):c.3308C>G (p.Thr1103Ser)
NM_001283009.2(RTEL1):c.3311C>G (p.Thr1104Ser)
NM_001283009.2(RTEL1):c.3313G>A (p.Ala1105Thr) rs752980702
NM_001283009.2(RTEL1):c.3314C>A (p.Ala1105Glu)
NM_001283009.2(RTEL1):c.3314C>G (p.Ala1105Gly) rs1193975279
NM_001283009.2(RTEL1):c.3320C>G (p.Pro1107Arg) rs115264605
NM_001283009.2(RTEL1):c.3320C>T (p.Pro1107Leu)
NM_001283009.2(RTEL1):c.3322G>A (p.Glu1108Lys) rs945952564
NM_001283009.2(RTEL1):c.3326A>C (p.Asp1109Ala)
NM_001283009.2(RTEL1):c.3328T>G (p.Phe1110Val) rs754275053
NM_001283009.2(RTEL1):c.3329T>C (p.Phe1110Ser) rs148621466
NM_001283009.2(RTEL1):c.3331C>T (p.Pro1111Ser)
NM_001283009.2(RTEL1):c.3342C>A (p.His1114Gln)
NM_001283009.2(RTEL1):c.3343+15C>T
NM_001283009.2(RTEL1):c.3343+8G>A rs768036242
NM_001283009.2(RTEL1):c.3343A>G (p.Arg1115Gly)
NM_001283009.2(RTEL1):c.3344G>A (p.Arg1115Lys)
NM_001283009.2(RTEL1):c.3349A>G (p.Ser1117Gly)
NM_001283009.2(RTEL1):c.3352A>G (p.Met1118Val) rs2090940417
NM_001283009.2(RTEL1):c.3358G>A (p.Val1120Met) rs1232203927
NM_001283009.2(RTEL1):c.3358G>C (p.Val1120Leu)
NM_001283009.2(RTEL1):c.335C>T (p.Ala112Val)
NM_001283009.2(RTEL1):c.3364C>G (p.Pro1122Ala)
NM_001283009.2(RTEL1):c.3364C>T (p.Pro1122Ser)
NM_001283009.2(RTEL1):c.3365C>T (p.Pro1122Leu)
NM_001283009.2(RTEL1):c.3369C>G (p.His1123Gln)
NM_001283009.2(RTEL1):c.3372C>G (p.His1124Gln)
NM_001283009.2(RTEL1):c.3374A>G (p.Lys1125Arg)
NM_001283009.2(RTEL1):c.3376C>G (p.Gln1126Glu) rs778734749
NM_001283009.2(RTEL1):c.3377A>T (p.Gln1126Leu)
NM_001283009.2(RTEL1):c.3378G>C (p.Gln1126His)
NM_001283009.2(RTEL1):c.3379C>A (p.Arg1127Ser) rs745614952
NM_001283009.2(RTEL1):c.3379C>G (p.Arg1127Gly)
NM_001283009.2(RTEL1):c.3382T>C (p.Phe1128Leu) rs2090941270
NM_001283009.2(RTEL1):c.3392C>A (p.Thr1131Lys)
NM_001283009.2(RTEL1):c.3392C>G (p.Thr1131Arg) rs372852392
NM_001283009.2(RTEL1):c.3394T>C (p.Cys1132Arg) rs2145477538
NM_001283009.2(RTEL1):c.3398C>G (p.Thr1133Arg)
NM_001283009.2(RTEL1):c.3412C>T (p.Arg1138Trp) rs6062495
NM_001283009.2(RTEL1):c.3413G>A (p.Arg1138Gln)
NM_001283009.2(RTEL1):c.3413G>C (p.Arg1138Pro)
NM_001283009.2(RTEL1):c.3413G>T (p.Arg1138Leu) rs756727783
NM_001283009.2(RTEL1):c.3416C>T (p.Pro1139Leu)
NM_001283009.2(RTEL1):c.3419A>G (p.Tyr1140Cys) rs200622914
NM_001283009.2(RTEL1):c.3425G>T (p.Gly1142Val)
NM_001283009.2(RTEL1):c.3433C>T (p.Pro1145Ser)
NM_001283009.2(RTEL1):c.3437C>G (p.Pro1146Arg) rs749331637
NM_001283009.2(RTEL1):c.3440G>A (p.Gly1147Glu)
NM_001283009.2(RTEL1):c.3443C>A (p.Pro1148His) rs116773320
NM_001283009.2(RTEL1):c.3443C>G (p.Pro1148Arg)
NM_001283009.2(RTEL1):c.3446A>C (p.Gln1149Pro)
NM_001283009.2(RTEL1):c.3446A>G (p.Gln1149Arg)
NM_001283009.2(RTEL1):c.3448G>A (p.Glu1150Lys)
NM_001283009.2(RTEL1):c.3448GAG[1] (p.Glu1151del) rs777014655
NM_001283009.2(RTEL1):c.3455G>A (p.Arg1152Lys)
NM_001283009.2(RTEL1):c.3456G>T (p.Arg1152Ser)
NM_001283009.2(RTEL1):c.3460G>C (p.Ala1154Pro)
NM_001283009.2(RTEL1):c.3461C>T (p.Ala1154Val)
NM_001283009.2(RTEL1):c.3463G>T (p.Val1155Leu)
NM_001283009.2(RTEL1):c.3470C>A (p.Pro1157His)
NM_001283009.2(RTEL1):c.3472G>A (p.Val1158Met)
NM_001283009.2(RTEL1):c.347A>G (p.His116Arg) rs746010778
NM_001283009.2(RTEL1):c.3487G>A (p.Ala1163Thr)
NM_001283009.2(RTEL1):c.3488C>T (p.Ala1163Val)
NM_001283009.2(RTEL1):c.3490C>G (p.Pro1164Ala)
NM_001283009.2(RTEL1):c.3491C>T (p.Pro1164Leu)
NM_001283009.2(RTEL1):c.3499+5_3499+6delinsTC
NM_001283009.2(RTEL1):c.3499+5_3499+6insT rs2145478219
NM_001283009.2(RTEL1):c.3499+6G>C
NM_001283009.2(RTEL1):c.3500-10_3500-9del
NM_001283009.2(RTEL1):c.3500-3C>T
NM_001283009.2(RTEL1):c.3502C>T (p.Pro1168Ser)
NM_001283009.2(RTEL1):c.3506C>T (p.Ser1169Leu)
NM_001283009.2(RTEL1):c.3509G>T (p.Arg1170Leu)
NM_001283009.2(RTEL1):c.3514G>A (p.Glu1172Lys)
NM_001283009.2(RTEL1):c.3515A>C (p.Glu1172Ala) rs2145479213
NM_001283009.2(RTEL1):c.3515_3523del (p.Glu1172_Thr1174del) rs1258943409
NM_001283009.2(RTEL1):c.3519G>C (p.Lys1173Asn)
NM_001283009.2(RTEL1):c.3523_3531dup (p.Gly1175_Thr1177dup) rs2090951149
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn) rs367598119
NM_001283009.2(RTEL1):c.3534G>C (p.Gln1178His) rs781484810
NM_001283009.2(RTEL1):c.3545C>T (p.Ser1182Leu)
NM_001283009.2(RTEL1):c.3547T>A (p.Ser1183Thr)
NM_001283009.2(RTEL1):c.3548C>T (p.Ser1183Phe)
NM_001283009.2(RTEL1):c.354A>C (p.Gln118His)
NM_001283009.2(RTEL1):c.3550T>G (p.Phe1184Val)
NM_001283009.2(RTEL1):c.3551T>G (p.Phe1184Cys)
NM_001283009.2(RTEL1):c.3553C>G (p.Leu1185Val) rs1439323475
NM_001283009.2(RTEL1):c.3553C>T (p.Leu1185Phe) rs1439323475
NM_001283009.2(RTEL1):c.3556A>G (p.Arg1186Gly)
NM_001283009.2(RTEL1):c.3557G>A (p.Arg1186Lys) rs2090952685
NM_001283009.2(RTEL1):c.3559C>G (p.Gln1187Glu)
NM_001283009.2(RTEL1):c.3565C>T (p.Pro1189Ser)
NM_001283009.2(RTEL1):c.3566C>T (p.Pro1189Leu)
NM_001283009.2(RTEL1):c.3569C>T (p.Ala1190Val)
NM_001283009.2(RTEL1):c.3571G>A (p.Gly1191Arg) rs2090953166
NM_001283009.2(RTEL1):c.3571G>C (p.Gly1191Arg)
NM_001283009.2(RTEL1):c.3572G>A (p.Gly1191Glu)
NM_001283009.2(RTEL1):c.3578T>G (p.Val1193Gly)
NM_001283009.2(RTEL1):c.3589G>C (p.Gly1197Arg)
NM_001283009.2(RTEL1):c.3595G>A (p.Asp1199Asn) rs2145479801
NM_001283009.2(RTEL1):c.3608G>A (p.Ser1203Asn) rs2145479866
NM_001283009.2(RTEL1):c.3608G>C (p.Ser1203Thr)
NM_001283009.2(RTEL1):c.3608G>T (p.Ser1203Ile) rs2145479866
NM_001283009.2(RTEL1):c.3614C>T (p.Ser1205Phe)
NM_001283009.2(RTEL1):c.3623C>T (p.Pro1208Leu)
NM_001283009.2(RTEL1):c.3629A>C (p.His1210Pro) rs1601199974
NM_001283009.2(RTEL1):c.3629A>G (p.His1210Arg) rs1601199974
NM_001283009.2(RTEL1):c.3630C>A (p.His1210Gln)
NM_001283009.2(RTEL1):c.3631G>A (p.Gly1211Arg) rs1354993689
NM_001283009.2(RTEL1):c.3653G>A (p.Gly1218Asp)
NM_001283009.2(RTEL1):c.3658C>T (p.Pro1220Ser)
NM_001283009.2(RTEL1):c.3665G>A (p.Gly1222Glu)
NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val) rs1177347580
NM_001283009.2(RTEL1):c.3676G>T (p.Ala1226Ser) rs371373011
NM_001283009.2(RTEL1):c.3680G>A (p.Gly1227Glu)
NM_001283009.2(RTEL1):c.3683A>G (p.Gln1228Arg)
NM_001283009.2(RTEL1):c.3684G>C (p.Gln1228His)
NM_001283009.2(RTEL1):c.3687G>C (p.Gln1229His)
NM_001283009.2(RTEL1):c.3688G>C (p.Ala1230Pro)
NM_001283009.2(RTEL1):c.3689C>T (p.Ala1230Val)
NM_001283009.2(RTEL1):c.3697G>A (p.Ala1233Thr) rs2090957083
NM_001283009.2(RTEL1):c.3698C>G (p.Ala1233Gly)
NM_001283009.2(RTEL1):c.369C>G (p.Ile123Met) rs2090027882
NM_001283009.2(RTEL1):c.3703G>C (p.Gly1235Arg)
NM_001283009.2(RTEL1):c.3707G>A (p.Gly1236Glu)
NM_001283009.2(RTEL1):c.3709C>T (p.Pro1237Ser)
NM_001283009.2(RTEL1):c.370A>G (p.Asn124Asp) rs1569080038
NM_001283009.2(RTEL1):c.3716C>T (p.Ser1239Leu)
NM_001283009.2(RTEL1):c.3718G>C (p.Ala1240Pro)
NM_001283009.2(RTEL1):c.3724T>A (p.Cys1242Ser)
NM_001283009.2(RTEL1):c.3725G>A (p.Cys1242Tyr)
NM_001283009.2(RTEL1):c.3725G>T (p.Cys1242Phe) rs765990015
NM_001283009.2(RTEL1):c.3733C>G (p.Gln1245Glu) rs1555814729
NM_001283009.2(RTEL1):c.3734A>G (p.Gln1245Arg) rs2090958582
NM_001283009.2(RTEL1):c.3736G>A (p.Gly1246Ser) rs2145480651
NM_001283009.2(RTEL1):c.373G>A (p.Glu125Lys)
NM_001283009.2(RTEL1):c.3746C>A (p.Ala1249Glu)
NM_001283009.2(RTEL1):c.3754GTG[1] (p.Val1253del)
NM_001283009.2(RTEL1):c.3760C>G (p.Pro1254Ala)
NM_001283009.2(RTEL1):c.3761C>T (p.Pro1254Leu)
NM_001283009.2(RTEL1):c.3766C>A (p.Gln1256Lys)
NM_001283009.2(RTEL1):c.3783C>G (p.Asp1261Glu) rs376313219
NM_001283009.2(RTEL1):c.379C>T (p.Arg127Trp)
NM_001283009.2(RTEL1):c.3805T>C (p.Trp1269Arg)
NM_001283009.2(RTEL1):c.3807G>A (p.Trp1269Ter)
NM_001283009.2(RTEL1):c.3807G>C (p.Trp1269Cys) rs2145481109
NM_001283009.2(RTEL1):c.3817C>T (p.Leu1273Phe)
NM_001283009.2(RTEL1):c.3821A>G (p.Gln1274Arg)
NM_001283009.2(RTEL1):c.3822+13C>T
NM_001283009.2(RTEL1):c.3822+1G>A
NM_001283009.2(RTEL1):c.3823-11T>C
NM_001283009.2(RTEL1):c.3823G>T (p.Ala1275Ser) rs2090966039
NM_001283009.2(RTEL1):c.3824C>G (p.Ala1275Gly) rs771296244
NM_001283009.2(RTEL1):c.3824C>T (p.Ala1275Val)
NM_001283009.2(RTEL1):c.3831G>T (p.Arg1277Ser)
NM_001283009.2(RTEL1):c.3832A>G (p.Met1278Val) rs1555814876
NM_001283009.2(RTEL1):c.3834G>A (p.Met1278Ile) rs1428387350
NM_001283009.2(RTEL1):c.3841G>A (p.Ala1281Thr)
NM_001283009.2(RTEL1):c.3842C>T (p.Ala1281Val) rs1601201761
NM_001283009.2(RTEL1):c.3847C>T (p.His1283Tyr) rs1555814886
NM_001283009.2(RTEL1):c.3857C>T (p.Ser1286Phe)
NM_001283009.2(RTEL1):c.3863A>G (p.Lys1288Arg)
NM_001283009.2(RTEL1):c.386CCT[1] (p.Ser130del) rs1555899638
NM_001283009.2(RTEL1):c.3871G>A (p.Val1291Ile)
NM_001283009.2(RTEL1):c.3874del (p.Met1292fs)
NM_001283009.2(RTEL1):c.3877C>G (p.Gln1293Glu)
NM_001283009.2(RTEL1):c.3877C>T (p.Gln1293Ter)
NM_001283009.2(RTEL1):c.3878del (p.Gln1293fs)
NM_001283009.2(RTEL1):c.3881T>C (p.Val1294Ala)
NM_001283009.2(RTEL1):c.3889C>T (p.Pro1297Ser) rs2090967528
NM_001283009.2(RTEL1):c.389C>A (p.Ser130Tyr)
NM_001283009.2(RTEL1):c.394C>A (p.Arg132=)
NM_001283009.2(RTEL1):c.394C>T (p.Arg132Trp) rs769533935
NM_001283009.2(RTEL1):c.395+4G>T rs2146151011
NM_001283009.2(RTEL1):c.396-20A>G rs1601086623
NM_001283009.2(RTEL1):c.396-43T>C
NM_001283009.2(RTEL1):c.396-50T>C rs1555899781
NM_001283009.2(RTEL1):c.396-74A>C rs1555899773
NM_001283009.2(RTEL1):c.396-8C>G
NM_001283009.2(RTEL1):c.396G>C (p.Arg132=)
NM_001283009.2(RTEL1):c.397C>A (p.Pro133Thr)
NM_001283009.2(RTEL1):c.397C>T (p.Pro133Ser) rs942504504
NM_001283009.2(RTEL1):c.402G>A (p.Lys134=) rs6062480
NM_001283009.2(RTEL1):c.422G>A (p.Arg141Gln) rs1242481082
NM_001283009.2(RTEL1):c.422G>T (p.Arg141Leu)
NM_001283009.2(RTEL1):c.424G>A (p.Glu142Lys)
NM_001283009.2(RTEL1):c.442C>T (p.Pro148Ser)
NM_001283009.2(RTEL1):c.447G>C (p.Glu149Asp)
NM_001283009.2(RTEL1):c.45C>A (p.Phe15Leu) rs1296968885
NM_001283009.2(RTEL1):c.460G>C (p.Glu154Gln) rs2146154075
NM_001283009.2(RTEL1):c.463A>G (p.Ser155Gly)
NM_001283009.2(RTEL1):c.467A>G (p.Asn156Ser) rs774724599
NM_001283009.2(RTEL1):c.477+6C>T rs1321816687
NM_001283009.2(RTEL1):c.47A>G (p.Gln16Arg)
NM_001283009.2(RTEL1):c.480C>G (p.Ile160Met)
NM_001283009.2(RTEL1):c.491G>A (p.Arg164His) rs377176432
NM_001283009.2(RTEL1):c.491G>T (p.Arg164Leu)
NM_001283009.2(RTEL1):c.499G>A (p.Val167Met)
NM_001283009.2(RTEL1):c.500T>G (p.Val167Gly) rs1601087815
NM_001283009.2(RTEL1):c.502G>A (p.Ala168Thr)
NM_001283009.2(RTEL1):c.503C>T (p.Ala168Val) rs2090048504
NM_001283009.2(RTEL1):c.508C>T (p.Arg170Cys) rs866785110
NM_001283009.2(RTEL1):c.522C>A (p.Phe174Leu)
NM_001283009.2(RTEL1):c.526A>G (p.Asn176Asp) rs2146155790
NM_001283009.2(RTEL1):c.530A>G (p.Asn177Ser)
NM_001283009.2(RTEL1):c.538+4C>G
NM_001283009.2(RTEL1):c.539-16T>A rs1460115448
NM_001283009.2(RTEL1):c.539A>G (p.Glu180Gly)
NM_001283009.2(RTEL1):c.540A>T (p.Glu180Asp) rs1301531897
NM_001283009.2(RTEL1):c.554A>G (p.Gln185Arg)
NM_001283009.2(RTEL1):c.557A>G (p.Glu186Gly)
NM_001283009.2(RTEL1):c.562G>A (p.Ala188Thr)
NM_001283009.2(RTEL1):c.56A>G (p.Lys19Arg) rs2146141516
NM_001283009.2(RTEL1):c.580A>G (p.Ile194Val) rs963605629
NM_001283009.2(RTEL1):c.595A>G (p.Lys199Glu) rs1601096259
NM_001283009.2(RTEL1):c.599G>A (p.Ser200Asn)
NM_001283009.2(RTEL1):c.599G>C (p.Ser200Thr) rs2090120174
NM_001283009.2(RTEL1):c.601G>A (p.Gly201Arg)
NM_001283009.2(RTEL1):c.613A>G (p.Arg205Gly)
NM_001283009.2(RTEL1):c.614+13A>G
NM_001283009.2(RTEL1):c.615-3C>G rs2090159810
NM_001283009.2(RTEL1):c.632T>A (p.Leu211Gln)
NM_001283009.2(RTEL1):c.635C>T (p.Ser212Phe)
NM_001283009.2(RTEL1):c.664A>G (p.Ile222Val) rs1235107432
NM_001283009.2(RTEL1):c.667T>C (p.Phe223Leu)
NM_001283009.2(RTEL1):c.670A>G (p.Met224Val)
NM_001283009.2(RTEL1):c.674C>G (p.Pro225Arg)
NM_001283009.2(RTEL1):c.674C>T (p.Pro225Leu)
NM_001283009.2(RTEL1):c.67G>A (p.Glu23Lys)
NM_001283009.2(RTEL1):c.680A>G (p.Asn227Ser)
NM_001283009.2(RTEL1):c.682T>C (p.Tyr228His)
NM_001283009.2(RTEL1):c.683A>G (p.Tyr228Cys)
NM_001283009.2(RTEL1):c.692A>T (p.Asp231Val)
NM_001283009.2(RTEL1):c.693T>A (p.Asp231Glu)
NM_001283009.2(RTEL1):c.695C>T (p.Ala232Val) rs1035560386
NM_001283009.2(RTEL1):c.698A>G (p.Lys233Arg)
NM_001283009.2(RTEL1):c.699+3G>A
NM_001283009.2(RTEL1):c.699+3G>T
NM_001283009.2(RTEL1):c.699+6G>T
NM_001283009.2(RTEL1):c.704G>A (p.Arg235His) rs549397879
NM_001283009.2(RTEL1):c.712C>T (p.His238Tyr)
NM_001283009.2(RTEL1):c.715A>G (p.Asn239Asp)
NM_001283009.2(RTEL1):c.716A>G (p.Asn239Ser) rs375403784
NM_001283009.2(RTEL1):c.717C>G (p.Asn239Lys)
NM_001283009.2(RTEL1):c.721G>A (p.Asp241Asn)
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=) rs919917378
NM_001283009.2(RTEL1):c.734C>T (p.Thr245Ile)
NM_001283009.2(RTEL1):c.744C>T (p.Ile248=) rs748518636
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_001283009.2(RTEL1):c.755C>T (p.Ala252Val)
NM_001283009.2(RTEL1):c.758A>T (p.His253Leu) rs2146193406
NM_001283009.2(RTEL1):c.75G>A (p.Met25Ile)
NM_001283009.2(RTEL1):c.763G>C (p.Val255Leu)
NM_001283009.2(RTEL1):c.775T>C (p.Cys259Arg)
NM_001283009.2(RTEL1):c.77C>T (p.Thr26Ile)
NM_001283009.2(RTEL1):c.802A>G (p.Thr268Ala) rs115889392
NM_001283009.2(RTEL1):c.806C>T (p.Pro269Leu)
NM_001283009.2(RTEL1):c.809A>C (p.His270Pro)
NM_001283009.2(RTEL1):c.80A>G (p.Lys27Arg) rs1240428205
NM_001283009.2(RTEL1):c.832G>A (p.Val278Ile)
NM_001283009.2(RTEL1):c.835A>C (p.Ile279Leu)
NM_001283009.2(RTEL1):c.836T>C (p.Ile279Thr)
NM_001283009.2(RTEL1):c.83T>G (p.Val28Gly)
NM_001283009.2(RTEL1):c.842A>G (p.Gln281Arg)
NM_001283009.2(RTEL1):c.865G>T (p.Ala289Ser)
NM_001283009.2(RTEL1):c.878G>A (p.Gly293Asp) rs779999090
NM_001283009.2(RTEL1):c.884C>G (p.Pro295Arg) rs781117322
NM_001283009.2(RTEL1):c.889C>G (p.Pro297Ala)
NM_001283009.2(RTEL1):c.889C>T (p.Pro297Ser)
NM_001283009.2(RTEL1):c.893A>C (p.Glu298Ala) rs371358427
NM_001283009.2(RTEL1):c.897C>G (p.Phe299Leu)
NM_001283009.2(RTEL1):c.898A>T (p.Ser300Cys) rs1601119963
NM_001283009.2(RTEL1):c.900C>G (p.Ser300Arg)
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=) rs146100165
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001283009.2(RTEL1):c.904G>A (p.Asp302Asn)
NM_001283009.2(RTEL1):c.904G>T (p.Asp302Tyr)
NM_001283009.2(RTEL1):c.915C>G (p.Ser305Arg)
NM_001283009.2(RTEL1):c.916C>T (p.Pro306Ser)
NM_001283009.2(RTEL1):c.919+3G>A
NM_001283009.2(RTEL1):c.919+3G>T
NM_001283009.2(RTEL1):c.919+4C>T
NM_001283009.2(RTEL1):c.919+5G>A
NM_001283009.2(RTEL1):c.920-13T>A
NM_001283009.2(RTEL1):c.934C>G (p.Leu312Val)
NM_001283009.2(RTEL1):c.937G>A (p.Glu313Lys)
NM_001283009.2(RTEL1):c.957G>A (p.Lys319=)
NM_001283009.2(RTEL1):c.958A>G (p.Met320Val)
NM_001283009.2(RTEL1):c.959-5C>G rs2090398159
NM_001283009.2(RTEL1):c.971G>T (p.Arg324Leu) rs113684274
NM_001283009.2(RTEL1):c.983C>A (p.Ala328Asp) rs561033103
NM_001283009.2(RTEL1):c.985A>G (p.Ile329Val)
NM_001283009.2(RTEL1):c.9G>C (p.Lys3Asn)
NM_001323.4(CST6):c.418C>T (p.Gln140Ter)
NM_001363.5(DKC1):c.1027A>G (p.Ile343Val) rs958540765
NM_001363.5(DKC1):c.1036+10G>T
NM_001363.5(DKC1):c.1036+6_1036+7del rs1557264868
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val) rs1248744087
NM_001363.5(DKC1):c.1046T>C (p.Leu349Ser)
NM_001363.5(DKC1):c.1066T>C (p.Ser356Pro)
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) rs137854492
NM_001363.5(DKC1):c.1091C>G (p.Ala364Gly) rs2148515101
NM_001363.5(DKC1):c.1114G>C (p.Glu372Gln) rs2148515114
NM_001363.5(DKC1):c.1120G>A (p.Asp374Asn)
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001363.5(DKC1):c.113T>G (p.Ile38Ser)
NM_001363.5(DKC1):c.1141G>A (p.Gly381Ser)
NM_001363.5(DKC1):c.1165A>C (p.Lys389Gln)
NM_001363.5(DKC1):c.1171C>A (p.Leu391Met) rs2148516382
NM_001363.5(DKC1):c.1214C>T (p.Thr405Ile)
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1225C>T (p.Pro409Ser) rs2148516431
NM_001363.5(DKC1):c.1232C>T (p.Thr411Ile)
NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)
NM_001363.5(DKC1):c.1275_1277del (p.Glu426del)
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln) rs2071881185
NM_001363.5(DKC1):c.1281_1310del (p.Val431_Glu440del)
NM_001363.5(DKC1):c.1293_1295del (p.Val432del)
NM_001363.5(DKC1):c.1294G>T (p.Val432Leu)
NM_001363.5(DKC1):c.1304C>T (p.Pro435Leu)
NM_001363.5(DKC1):c.1328A>C (p.Lys443Thr)
NM_001363.5(DKC1):c.1338+3G>C
NM_001363.5(DKC1):c.1339-10T>G
NM_001363.5(DKC1):c.1339-3C>T
NM_001363.5(DKC1):c.1343A>G (p.Lys448Arg) rs2148517505
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro) rs1289430524
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn) rs2071893244
NM_001363.5(DKC1):c.1352G>C (p.Ser451Thr) rs2071893244
NM_001363.5(DKC1):c.1373C>G (p.Thr458Ser) rs2071893601
NM_001363.5(DKC1):c.1373C>T (p.Thr458Ile)
NM_001363.5(DKC1):c.1387C>A (p.Pro463Thr) rs782434084
NM_001363.5(DKC1):c.1396A>G (p.Ile466Val)
NM_001363.5(DKC1):c.1398C>G (p.Ile466Met)
NM_001363.5(DKC1):c.1429AAG[1] (p.Lys478del) rs2148517599
NM_001363.5(DKC1):c.142G>A (p.Asp48Asn)
NM_001363.5(DKC1):c.1445G>T (p.Gly482Val)
NM_001363.5(DKC1):c.1462G>A (p.Glu488Lys)
NM_001363.5(DKC1):c.1477-14_1477-11del
NM_001363.5(DKC1):c.1477-1G>C rs2148517984
NM_001363.5(DKC1):c.1494GAA[4] (p.Lys503_Lys505del) rs782576893
NM_001363.5(DKC1):c.1496A>G (p.Lys499Arg)
NM_001363.5(DKC1):c.1508dup (p.Lys504fs)
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn) rs1557265783
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp) rs186518477
NM_001363.5(DKC1):c.166C>G (p.Leu56Val)
NM_001363.5(DKC1):c.176T>C (p.Phe59Ser)
NM_001363.5(DKC1):c.191T>G (p.Val64Gly) rs2071739379
NM_001363.5(DKC1):c.199A>G (p.Thr67Ala)
NM_001363.5(DKC1):c.211C>T (p.Pro71Ser)
NM_001363.5(DKC1):c.220T>C (p.Cys74Arg) rs2148509751
NM_001363.5(DKC1):c.244G>C (p.Glu82Gln)
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn) rs2148509772
NM_001363.5(DKC1):c.257A>G (p.Tyr86Cys)
NM_001363.5(DKC1):c.263+6T>C rs2071741038
NM_001363.5(DKC1):c.277A>T (p.Asn93Tyr) rs2148509897
NM_001363.5(DKC1):c.329G>A (p.Arg110Gln)
NM_001363.5(DKC1):c.332G>A (p.Arg111Gln) rs1036880108
NM_001363.5(DKC1):c.352A>C (p.Thr118Pro)
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.421C>A (p.Arg141Ser)
NM_001363.5(DKC1):c.421C>T (p.Arg141Cys)
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del) rs782201995
NM_001363.5(DKC1):c.442A>G (p.Ser148Gly)
NM_001363.5(DKC1):c.484G>A (p.Ala162Thr) rs2071754474
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) rs782159247
NM_001363.5(DKC1):c.494G>T (p.Gly165Val) rs782622660
NM_001363.5(DKC1):c.50A>G (p.Lys17Arg)
NM_001363.5(DKC1):c.515C>T (p.Ala172Val)
NM_001363.5(DKC1):c.52_54del (p.Glu18del) rs2071726998
NM_001363.5(DKC1):c.548G>A (p.Arg183Gln)
NM_001363.5(DKC1):c.559A>C (p.Ile187Leu)
NM_001363.5(DKC1):c.568G>A (p.Val190Ile) rs2071758363
NM_001363.5(DKC1):c.580C>A (p.Leu194Ile)
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.601G>C (p.Glu201Gln)
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly) rs2071759206
NM_001363.5(DKC1):c.62C>T (p.Ser21Leu)
NM_001363.5(DKC1):c.666T>A (p.Ala222=)
NM_001363.5(DKC1):c.67C>A (p.Pro23Thr)
NM_001363.5(DKC1):c.691G>A (p.Val231Met)
NM_001363.5(DKC1):c.70G>A (p.Glu24Lys) rs2148509194
NM_001363.5(DKC1):c.739C>A (p.Arg247=)
NM_001363.5(DKC1):c.749G>A (p.Arg250His)
NM_001363.5(DKC1):c.75A>T (p.Glu25Asp)
NM_001363.5(DKC1):c.763A>G (p.Ser255Gly)
NM_001363.5(DKC1):c.778A>G (p.Met260Val)
NM_001363.5(DKC1):c.880A>G (p.Thr294Ala)
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe) rs2071791712
NM_001363.5(DKC1):c.88A>G (p.Ile30Val)
NM_001363.5(DKC1):c.901A>G (p.Met301Val)
NM_001363.5(DKC1):c.915+10G>A rs1603429509
NM_001363.5(DKC1):c.948G>T (p.Met316Ile) rs2148513624
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) rs121912290
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_001363.5(DKC1):c.979A>G (p.Ile327Val) rs2071814299
NM_001363.5(DKC1):c.985G>A (p.Val329Ile) rs2071814456
NM_001363.5(DKC1):c.993G>T (p.Gln331His)
NM_001399.5(EDA):c.1022C>T (p.Thr341Ile)
NM_001399.5(EDA):c.106G>A (p.Glu36Lys)
NM_001399.5(EDA):c.1073A>G (p.Gln358Arg)
NM_001399.5(EDA):c.1075A>G (p.Lys359Glu)
NM_001399.5(EDA):c.1106T>A (p.Ile369Asn) rs1569407331
NM_001399.5(EDA):c.1111A>T (p.Ile371Phe)
NM_001399.5(EDA):c.1112T>A (p.Ile371Asn)
NM_001399.5(EDA):c.11C>G (p.Pro4Arg)
NM_001399.5(EDA):c.148T>G (p.Ser50Ala) rs1931939988
NM_001399.5(EDA):c.149C>G (p.Ser50Trp)
NM_001399.5(EDA):c.396+5G>C rs1931970978
NM_001399.5(EDA):c.410A>T (p.Asn137Ile) rs2147419026
NM_001399.5(EDA):c.440C>G (p.Ser147Cys) rs2147419080
NM_001399.5(EDA):c.466_467delinsTC (p.Arg156Ser)
NM_001399.5(EDA):c.532A>G (p.Lys178Glu)
NM_001399.5(EDA):c.533_544del (p.Lys178_Pro182delinsThr)
NM_001399.5(EDA):c.562C>T (p.Pro188Ser)
NM_001399.5(EDA):c.607C>G (p.Pro203Ala)
NM_001399.5(EDA):c.613A>T (p.Ile205Phe) rs1556098680
NM_001399.5(EDA):c.628G>C (p.Gly210Arg) rs1556098733
NM_001399.5(EDA):c.634A>G (p.Thr212Ala)
NM_001399.5(EDA):c.646C>T (p.Pro216Ser) rs1556098806
NM_001399.5(EDA):c.741G>T (p.Gln247His) rs886042183
NM_001399.5(EDA):c.760C>T (p.Gln254Ter)
NM_001399.5(EDA):c.769G>C (p.Gly257Arg) rs1057517882
NM_001399.5(EDA):c.794A>C (p.Asp265Ala)
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.803G>T (p.Gly268Val)
NM_001399.5(EDA):c.814A>G (p.Asn272Asp) rs1556106742
NM_001399.5(EDA):c.827G>C (p.Arg276Pro)
NM_001399.5(EDA):c.848T>G (p.Val283Gly)
NM_001399.5(EDA):c.853A>G (p.Lys285Glu) rs1556106974
NM_001399.5(EDA):c.865C>G (p.Arg289Gly)
NM_001399.5(EDA):c.866_867delinsAA (p.Arg289Gln) rs2020226101
NM_001399.5(EDA):c.885_890del (p.Leu296_Val297del) rs2147516497
NM_001399.5(EDA):c.901T>G (p.Tyr301Asp) rs2020226899
NM_001399.5(EDA):c.914G>A (p.Ser305Asn) rs2020227357
NM_001399.5(EDA):c.924+5G>A rs2020227617
NM_001399.5(EDA):c.924+8C>A rs370406516
NM_001399.5(EDA):c.941T>C (p.Phe314Ser) rs1556110180
NM_001399.5(EDA):c.950T>G (p.Phe317Cys) rs2020251589
NM_001399.5(EDA):c.956G>A (p.Ser319Asn) rs483352804
NM_001399.5(EDA):c.961G>A (p.Glu321Lys) rs397516682
NM_001399.5(EDA):c.973G>T (p.Asp325Tyr) rs2147519024
NM_001399.5(EDA):c.97C>T (p.Arg33Trp) rs1168030930
NM_001399.5(EDA):c.983C>A (p.Pro328His)
NM_001605.3(AARS1):c.621C>G (p.Asp207Glu) rs147424208
NM_001793.4(CDH3):c.-628G>A rs796187375
NM_001793.4(CDH3):c.-633_-627AAAAAGA[1] rs886052223
NM_001793.5(CDH3):c.-140G>T rs886052227
NM_001793.6(CDH3):c.*149G>T rs549357874
NM_001793.6(CDH3):c.*180G>C rs1961820138
NM_001793.6(CDH3):c.*523G>A rs1961830575
NM_001793.6(CDH3):c.*595G>A rs111487714
NM_001793.6(CDH3):c.*87G>T rs555473968
NM_001793.6(CDH3):c.100G>A (p.Ala34Thr) rs749754991
NM_001793.6(CDH3):c.1043G>A (p.Arg348Lys) rs886052231
NM_001793.6(CDH3):c.1178G>A (p.Arg393Lys) rs766325919
NM_001793.6(CDH3):c.1183-12C>T rs886052232
NM_001793.6(CDH3):c.1740G>C (p.Gln580His) rs886052233
NM_001793.6(CDH3):c.1796-11G>T rs752252704
NM_001793.6(CDH3):c.1984G>A (p.Ala662Thr) rs372221192
NM_001793.6(CDH3):c.2070A>G (p.Pro690=) rs886052234
NM_001793.6(CDH3):c.2251C>A (p.Pro751Thr) rs1961708493
NM_001793.6(CDH3):c.2305C>A (p.Pro769Thr) rs775268226
NM_001793.6(CDH3):c.45+6C>T rs562645181
NM_001793.6(CDH3):c.651G>C (p.Gln217His) rs1961118084
NM_001793.6(CDH3):c.958G>A (p.Asp320Asn)
NM_001814.6(CTSC):c.*350A>G rs1944265493
NM_001814.6(CTSC):c.*414A>G rs953848453
NM_001814.6(CTSC):c.-23C>G rs886048743
NM_001814.6(CTSC):c.-55C>T
NM_001814.6(CTSC):c.-7C>A rs770352776
NM_001814.6(CTSC):c.1006G>A (p.Asp336Asn)
NM_001814.6(CTSC):c.1007A>C (p.Asp336Ala)
NM_001814.6(CTSC):c.1010G>A (p.Cys337Tyr)
NM_001814.6(CTSC):c.1024T>G (p.Ser342Ala)
NM_001814.6(CTSC):c.1033T>C (p.Tyr345His)
NM_001814.6(CTSC):c.1038C>T (p.His346=) rs1355697311
NM_001814.6(CTSC):c.1055A>G (p.Tyr352Cys)
NM_001814.6(CTSC):c.1067A>G (p.Asn356Ser)
NM_001814.6(CTSC):c.1082A>C (p.Lys361Thr)
NM_001814.6(CTSC):c.1084C>G (p.Leu362Val)
NM_001814.6(CTSC):c.1094T>C (p.Val365Ala) rs1197515579
NM_001814.6(CTSC):c.1103G>A (p.Gly368Glu) rs1944274387
NM_001814.6(CTSC):c.1121T>C (p.Phe374Ser)
NM_001814.6(CTSC):c.1123G>A (p.Glu375Lys) rs886048738
NM_001814.6(CTSC):c.1145A>G (p.His382Arg)
NM_001814.6(CTSC):c.1159A>T (p.Ile387Phe)
NM_001814.6(CTSC):c.1160T>C (p.Ile387Thr)
NM_001814.6(CTSC):c.1165C>T (p.His389Tyr)
NM_001814.6(CTSC):c.1169A>G (p.His390Arg)
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1193A>G (p.Asn398Ser)
NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys)
NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys) rs201519830
NM_001814.6(CTSC):c.1222C>A (p.Leu408Met)
NM_001814.6(CTSC):c.1225C>G (p.Leu409Val)
NM_001814.6(CTSC):c.1276_1288A[5]CAGCTGGGCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAACCGCTGGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAGCTGGG[1] (p.Trp429_Gly430insAlaAlaValArgProGlyArgGlnSerGluThrProSerGlnLysLysLysLysLysLysLysLysLysAsnArgTrpGlyXaaXaaXaaXaaLysLysLysLysLysLysLysAsnSerTrp)
NM_001814.6(CTSC):c.127G>T (p.Val43Leu)
NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp)
NM_001814.6(CTSC):c.1294G>A (p.Gly432Ser)
NM_001814.6(CTSC):c.1303G>A (p.Glu435Lys)
NM_001814.6(CTSC):c.1317C>G (p.Phe439Leu)
NM_001814.6(CTSC):c.1318C>T (p.Arg440Trp)
NM_001814.6(CTSC):c.1319G>A (p.Arg440Gln)
NM_001814.6(CTSC):c.1325G>A (p.Arg442His)
NM_001814.6(CTSC):c.1335TGA[1] (p.Asp446del)
NM_001814.6(CTSC):c.1344_1345del (p.Ala449fs) rs771873680
NM_001814.6(CTSC):c.1345G>A (p.Ala449Thr)
NM_001814.6(CTSC):c.1346C>T (p.Ala449Val)
NM_001814.6(CTSC):c.1349T>C (p.Ile450Thr)
NM_001814.6(CTSC):c.134C>T (p.Ser45Phe)
NM_001814.6(CTSC):c.1351G>C (p.Glu451Gln)
NM_001814.6(CTSC):c.140G>T (p.Gly47Val)
NM_001814.6(CTSC):c.16T>G (p.Ser6Ala)
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-6del rs372892181
NM_001814.6(CTSC):c.175C>A (p.Pro59Thr)
NM_001814.6(CTSC):c.176C>T (p.Pro59Leu)
NM_001814.6(CTSC):c.21G>C (p.Leu7Phe)
NM_001814.6(CTSC):c.21G>T (p.Leu7Phe)
NM_001814.6(CTSC):c.233T>G (p.Leu78Arg)
NM_001814.6(CTSC):c.239A>G (p.Asn80Ser)
NM_001814.6(CTSC):c.252C>G (p.Phe84Leu)
NM_001814.6(CTSC):c.271G>C (p.Gly91Arg)
NM_001814.6(CTSC):c.290A>G (p.Asn97Ser)
NM_001814.6(CTSC):c.295T>C (p.Tyr99His)
NM_001814.6(CTSC):c.296A>T (p.Tyr99Phe)
NM_001814.6(CTSC):c.299A>G (p.Lys100Arg)
NM_001814.6(CTSC):c.308C>T (p.Ala103Val)
NM_001814.6(CTSC):c.312T>A (p.Phe104Leu)
NM_001814.6(CTSC):c.318+4_318+7del
NM_001814.6(CTSC):c.338A>G (p.Lys113Arg)
NM_001814.6(CTSC):c.340G>C (p.Val114Leu)
NM_001814.6(CTSC):c.344C>T (p.Thr115Ile)
NM_001814.6(CTSC):c.353G>A (p.Cys118Tyr)
NM_001814.6(CTSC):c.353G>T (p.Cys118Phe)
NM_001814.6(CTSC):c.358G>A (p.Glu120Lys)
NM_001814.6(CTSC):c.364A>G (p.Met122Val)
NM_001814.6(CTSC):c.37C>A (p.Leu13Met)
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
NM_001814.6(CTSC):c.386T>A (p.Val129Glu) rs760130711
NM_001814.6(CTSC):c.427G>C (p.Gly143Arg)
NM_001814.6(CTSC):c.434C>G (p.Ala145Gly)
NM_001814.6(CTSC):c.43C>T (p.Leu15Phe)
NM_001814.6(CTSC):c.449A>G (p.Tyr150Cys)
NM_001814.6(CTSC):c.4G>C (p.Gly2Arg)
NM_001814.6(CTSC):c.505A>G (p.Lys169Glu)
NM_001814.6(CTSC):c.53G>A (p.Gly18Asp)
NM_001814.6(CTSC):c.550T>C (p.Ser184Pro)
NM_001814.6(CTSC):c.562A>G (p.Thr188Ala)
NM_001814.6(CTSC):c.566C>T (p.Thr189Ile)
NM_001814.6(CTSC):c.574G>C (p.Glu192Gln)
NM_001814.6(CTSC):c.593T>A (p.Leu198Gln)
NM_001814.6(CTSC):c.615T>G (p.Ser205Arg)
NM_001814.6(CTSC):c.625A>C (p.Ser209Arg)
NM_001814.6(CTSC):c.629G>A (p.Arg210Gln)
NM_001814.6(CTSC):c.641+3A>G
NM_001814.6(CTSC):c.64G>T (p.Val22Leu)
NM_001814.6(CTSC):c.662CTG[1] (p.Ala222del)
NM_001814.6(CTSC):c.693G>C (p.Leu231Phe)
NM_001814.6(CTSC):c.719T>G (p.Val240Gly)
NM_001814.6(CTSC):c.71G>A (p.Cys24Tyr)
NM_001814.6(CTSC):c.729C>T (p.Ile243=) rs766063253
NM_001814.6(CTSC):c.757+3A>G
NM_001814.6(CTSC):c.757+5A>G
NM_001814.6(CTSC):c.757+6A>T rs886048741
NM_001814.6(CTSC):c.757G>A (p.Ala253Thr)
NM_001814.6(CTSC):c.758-16T>G
NM_001814.6(CTSC):c.758-7T>A
NM_001814.6(CTSC):c.769A>G (p.Ser257Gly)
NM_001814.6(CTSC):c.790A>C (p.Met264Leu)
NM_001814.6(CTSC):c.790A>G (p.Met264Val)
NM_001814.6(CTSC):c.796A>G (p.Met266Val)
NM_001814.6(CTSC):c.806C>T (p.Ala269Val)
NM_001814.6(CTSC):c.830A>G (p.Asn277Ser)
NM_001814.6(CTSC):c.839C>T (p.Thr280Ile)
NM_001814.6(CTSC):c.844A>G (p.Ile282Val)
NM_001814.6(CTSC):c.848T>C (p.Leu283Pro)
NM_001814.6(CTSC):c.850A>G (p.Ser284Gly) rs886048740
NM_001814.6(CTSC):c.872G>C (p.Cys291Ser)
NM_001814.6(CTSC):c.881A>G (p.Tyr294Cys)
NM_001814.6(CTSC):c.890G>T (p.Gly297Val)
NM_001814.6(CTSC):c.893G>A (p.Cys298Tyr)
NM_001814.6(CTSC):c.899G>A (p.Gly300Asp)
NM_001814.6(CTSC):c.907C>T (p.Pro303Ser)
NM_001814.6(CTSC):c.908C>T (p.Pro303Leu)
NM_001814.6(CTSC):c.917T>C (p.Ile306Thr)
NM_001814.6(CTSC):c.919G>A (p.Ala307Thr)
NM_001814.6(CTSC):c.921A>G (p.Ala307=)
NM_001814.6(CTSC):c.923G>A (p.Gly308Glu)
NM_001814.6(CTSC):c.931G>A (p.Ala311Thr)
NM_001814.6(CTSC):c.946C>G (p.Leu316Val)
NM_001814.6(CTSC):c.94T>C (p.Tyr32His)
NM_001814.6(CTSC):c.950T>G (p.Val317Gly)
NM_001814.6(CTSC):c.952G>A (p.Glu318Lys)
NM_001814.6(CTSC):c.953A>G (p.Glu318Gly)
NM_001814.6(CTSC):c.954A>G (p.Glu318=) rs886048739
NM_001814.6(CTSC):c.95A>G (p.Tyr32Cys)
NM_001814.6(CTSC):c.967C>T (p.Pro323Ser)
NM_001814.6(CTSC):c.979A>C (p.Thr327Pro)
NM_001814.6(CTSC):c.998T>C (p.Met333Thr)
NM_001854.4(COL11A1):c.-231dup rs886044983
NM_001854.4(COL11A1):c.1351-1G>A rs1666692498
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001854.4(COL11A1):c.1999-10T>C rs1665243141
NM_001854.4(COL11A1):c.2203C>G (p.Pro735Ala)
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del) rs2101750401
NM_001854.4(COL11A1):c.2503-3T>C
NM_001854.4(COL11A1):c.2590A>C (p.Asn864His) rs1557897680
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) rs2101679210
NM_001854.4(COL11A1):c.2890G>A (p.Gly964Arg)
NM_001854.4(COL11A1):c.2897G>T (p.Gly966Val)
NM_001854.4(COL11A1):c.3245C>T (p.Pro1082Leu)
NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu) rs17127270
NM_001854.4(COL11A1):c.3511G>C (p.Gly1171Arg)
NM_001854.4(COL11A1):c.3817-14_3817-13dup rs34228277
NM_001854.4(COL11A1):c.385G>A (p.Val129Ile) rs1672174219
NM_001854.4(COL11A1):c.4031C>A (p.Pro1344Gln) rs528959090
NM_001854.4(COL11A1):c.4186G>A (p.Gly1396Ser)
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.4357-16dup rs748850423
NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)
NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp)
NM_001854.4(COL11A1):c.5075A>G (p.Asn1692Ser)
NM_001854.4(COL11A1):c.5231A>G (p.Tyr1744Cys) rs769329430
NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del) rs774335092
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6dup rs36076089
NM_002283.4(KRT85):c.823T>C (p.Ser275Pro) rs1592141626
NM_002448.3(MSX1):c.100A>G (p.Ser34Gly)
NM_002448.3(MSX1):c.102C>G (p.Ser34Arg) rs1349964186
NM_002448.3(MSX1):c.371T>A (p.Leu124His)
NM_002448.3(MSX1):c.438G>A (p.Met146Ile)
NM_002448.3(MSX1):c.461C>T (p.Pro154Leu)
NM_002448.3(MSX1):c.470-9G>A
NM_002448.3(MSX1):c.472C>T (p.Arg158Trp)
NM_002448.3(MSX1):c.473G>C (p.Arg158Pro)
NM_002448.3(MSX1):c.527G>A (p.Arg176Gln)
NM_002448.3(MSX1):c.545C>T (p.Ala182Val)
NM_002448.3(MSX1):c.557C>T (p.Ala186Val)
NM_002448.3(MSX1):c.599C>T (p.Ala200Val) rs1346748006
NM_002448.3(MSX1):c.655T>C (p.Trp219Arg)
NM_002448.3(MSX1):c.670C>T (p.Arg224Cys) rs1342784720
NM_002448.3(MSX1):c.682_683del (p.Lys228fs) rs1737950636
NM_002448.3(MSX1):c.741_750del (p.Pro248fs) rs2108778693
NM_002448.3(MSX1):c.752_753delinsAA (p.Phe251Ter) rs1553878166
NM_002448.3(MSX1):c.787G>C (p.Val263Leu)
NM_002448.3(MSX1):c.796G>A (p.Ala266Thr) rs376516578
NM_002448.3(MSX1):c.797C>A (p.Ala266Glu)
NM_002448.3(MSX1):c.89G>C (p.Gly30Ala) rs1414674827
NM_002520.7(NPM1):c.641C>A (p.Ser214Ter)
NM_002582.4(PARN):c.1016ACA[1] (p.Asn340del) rs2151754075
NM_002582.4(PARN):c.1046G>T (p.Arg349Leu)
NM_002582.4(PARN):c.1048T>G (p.Leu350Val)
NM_002582.4(PARN):c.1052A>C (p.Lys351Thr)
NM_002582.4(PARN):c.1055A>G (p.Glu352Gly)
NM_002582.4(PARN):c.1069C>A (p.Pro357Thr) rs767096267
NM_002582.4(PARN):c.1075A>C (p.Lys359Gln)
NM_002582.4(PARN):c.1075A>G (p.Lys359Glu)
NM_002582.4(PARN):c.1078G>T (p.Val360Phe)
NM_002582.4(PARN):c.1079T>C (p.Val360Ala)
NM_002582.4(PARN):c.1081+3A>G
NM_002582.4(PARN):c.1094G>T (p.Gly365Val) rs1452851028
NM_002582.4(PARN):c.1109A>G (p.Asp370Gly)
NM_002582.4(PARN):c.112C>T (p.Pro38Ser) rs1972800939
NM_002582.4(PARN):c.113C>T (p.Pro38Leu) rs1972800795
NM_002582.4(PARN):c.1142A>G (p.Tyr381Cys)
NM_002582.4(PARN):c.1148C>G (p.Ala383Gly)
NM_002582.4(PARN):c.1159G>A (p.Gly387Arg)
NM_002582.4(PARN):c.1168T>G (p.Phe390Val)
NM_002582.4(PARN):c.1169T>G (p.Phe390Cys)
NM_002582.4(PARN):c.116C>T (p.Ser39Leu)
NM_002582.4(PARN):c.1172T>C (p.Ile391Thr)
NM_002582.4(PARN):c.1177A>C (p.Met393Leu)
NM_002582.4(PARN):c.1178T>C (p.Met393Thr)
NM_002582.4(PARN):c.1192+5G>C
NM_002582.4(PARN):c.1193G>T (p.Gly398Val) rs1447922914
NM_002582.4(PARN):c.119T>C (p.Val40Ala)
NM_002582.4(PARN):c.1200T>A (p.Phe400Leu)
NM_002582.4(PARN):c.1216A>C (p.Ile406Leu)
NM_002582.4(PARN):c.1219C>G (p.His407Asp) rs1596738260
NM_002582.4(PARN):c.1222G>C (p.Val408Leu)
NM_002582.4(PARN):c.122C>G (p.Ser41Cys)
NM_002582.4(PARN):c.122C>T (p.Ser41Phe) rs1433689115
NM_002582.4(PARN):c.1244T>C (p.Ile415Thr)
NM_002582.4(PARN):c.1249C>A (p.Pro417Thr)
NM_002582.4(PARN):c.125C>T (p.Ala42Val) rs1972799374
NM_002582.4(PARN):c.1262+3A>G
NM_002582.4(PARN):c.1262+4A>G
NM_002582.4(PARN):c.1279G>A (p.Val427Ile) rs762139840
NM_002582.4(PARN):c.1282A>G (p.Met428Val) rs1967640251
NM_002582.4(PARN):c.1285G>A (p.Asp429Asn) rs1967639910
NM_002582.4(PARN):c.1297C>A (p.Leu433Ile) rs201782700
NM_002582.4(PARN):c.1297C>G (p.Leu433Val) rs201782700
NM_002582.4(PARN):c.1317C>G (p.Asp439Glu) rs2151710973
NM_002582.4(PARN):c.1318T>C (p.Leu440=)
NM_002582.4(PARN):c.1319T>C (p.Leu440Ser) rs1967506241
NM_002582.4(PARN):c.1337A>G (p.His446Arg)
NM_002582.4(PARN):c.1339G>A (p.Val447Ile)
NM_002582.4(PARN):c.1351A>G (p.Thr451Ala) rs984383174
NM_002582.4(PARN):c.1354T>G (p.Phe452Val)
NM_002582.4(PARN):c.1358C>A (p.Pro453His) rs1967502478
NM_002582.4(PARN):c.1360A>G (p.Lys454Glu)
NM_002582.4(PARN):c.136G>A (p.Gly46Ser)
NM_002582.4(PARN):c.1378G>A (p.Asp460Asn) rs747006604
NM_002582.4(PARN):c.1385A>G (p.Tyr462Cys) rs1967500569
NM_002582.4(PARN):c.1396A>T (p.Ser466Cys)
NM_002582.4(PARN):c.139T>A (p.Phe47Ile)
NM_002582.4(PARN):c.1409_1417del (p.Asn470_Gln472del)
NM_002582.4(PARN):c.1416G>C (p.Gln472His)
NM_002582.4(PARN):c.1417A>T (p.Ile473Leu)
NM_002582.4(PARN):c.1421C>T (p.Ser474Phe) rs1967339819
NM_002582.4(PARN):c.1427T>C (p.Ile476Thr)
NM_002582.4(PARN):c.1430A>G (p.Asp477Gly)
NM_002582.4(PARN):c.1433A>G (p.Asp478Gly)
NM_002582.4(PARN):c.1456A>G (p.Ser486Gly)
NM_002582.4(PARN):c.145A>G (p.Thr49Ala)
NM_002582.4(PARN):c.1462C>T (p.Pro488Ser)
NM_002582.4(PARN):c.1469A>G (p.Gln490Arg) rs2151705664
NM_002582.4(PARN):c.146C>T (p.Thr49Ile)
NM_002582.4(PARN):c.1474A>C (p.Lys492Gln) rs759449443
NM_002582.4(PARN):c.1483G>A (p.Val495Ile)
NM_002582.4(PARN):c.1490C>A (p.Thr497Asn)
NM_002582.4(PARN):c.1490C>T (p.Thr497Ile) rs1963456314
NM_002582.4(PARN):c.1502C>T (p.Ala501Val)
NM_002582.4(PARN):c.1511A>G (p.Tyr504Cys) rs1181154287
NM_002582.4(PARN):c.152A>G (p.Glu51Gly)
NM_002582.4(PARN):c.1537A>G (p.Met513Val)
NM_002582.4(PARN):c.1539G>A (p.Met513Ile)
NM_002582.4(PARN):c.1544G>T (p.Arg515Ile)
NM_002582.4(PARN):c.1544_1545delinsTT (p.Arg515Ile) rs2151597307
NM_002582.4(PARN):c.154G>C (p.Glu52Gln) rs2151824669
NM_002582.4(PARN):c.1559A>G (p.Lys520Arg)
NM_002582.4(PARN):c.156G>C (p.Glu52Asp)
NM_002582.4(PARN):c.1584A>C (p.Glu528Asp)
NM_002582.4(PARN):c.15_17del (p.Arg5del)
NM_002582.4(PARN):c.1600G>A (p.Ala534Thr)
NM_002582.4(PARN):c.161A>T (p.Tyr54Phe) rs1972795595
NM_002582.4(PARN):c.1625A>G (p.Gln542Arg)
NM_002582.4(PARN):c.1627T>C (p.Cys543Arg) rs2151597189
NM_002582.4(PARN):c.1630A>C (p.Ile544Leu)
NM_002582.4(PARN):c.1635_1643del (p.Tyr546_Leu548del) rs2151597160
NM_002582.4(PARN):c.1650T>A (p.Asn550Lys) rs1368350204
NM_002582.4(PARN):c.1652A>C (p.His551Pro) rs2151597154
NM_002582.4(PARN):c.1654T>C (p.Tyr552His) rs965806129
NM_002582.4(PARN):c.1661G>A (p.Arg554His) rs372489171
NM_002582.4(PARN):c.1661G>T (p.Arg554Leu) rs372489171
NM_002582.4(PARN):c.1667A>G (p.Asn556Ser)
NM_002582.4(PARN):c.1670+5G>C
NM_002582.4(PARN):c.1673T>G (p.Phe558Cys)
NM_002582.4(PARN):c.1678G>A (p.Ala560Thr)
NM_002582.4(PARN):c.1684A>G (p.Ser562Gly)
NM_002582.4(PARN):c.1697A>G (p.Lys566Arg) rs1567284498
NM_002582.4(PARN):c.169C>T (p.Leu57Phe)
NM_002582.4(PARN):c.1700G>A (p.Arg567Lys)
NM_002582.4(PARN):c.1702A>G (p.Asn568Asp)
NM_002582.4(PARN):c.1707G>T (p.Leu569Phe)
NM_002582.4(PARN):c.170T>C (p.Leu57Pro) rs2151824639
NM_002582.4(PARN):c.1715G>A (p.Ser572Asn) rs1024969576
NM_002582.4(PARN):c.1727C>G (p.Ala576Gly)
NM_002582.4(PARN):c.1750G>A (p.Gly584Arg)
NM_002582.4(PARN):c.1751G>A (p.Gly584Glu) rs1961230542
NM_002582.4(PARN):c.1762G>A (p.Asp588Asn)
NM_002582.4(PARN):c.1762G>T (p.Asp588Tyr) rs750247455
NM_002582.4(PARN):c.1779G>T (p.Gln593His)
NM_002582.4(PARN):c.178-17T>A
NM_002582.4(PARN):c.178-5T>G rs1972739623
NM_002582.4(PARN):c.1781C>A (p.Thr594Asn)
NM_002582.4(PARN):c.1783G>A (p.Asp595Asn)
NM_002582.4(PARN):c.1787C>T (p.Ser596Phe)
NM_002582.4(PARN):c.1789T>C (p.Cys597Arg) rs1596433239
NM_002582.4(PARN):c.1796A>G (p.Glu599Gly) rs2151556910
NM_002582.4(PARN):c.1817A>G (p.Lys606Arg)
NM_002582.4(PARN):c.1838G>A (p.Arg613Lys)
NM_002582.4(PARN):c.1840A>G (p.Met614Val)
NM_002582.4(PARN):c.1841T>C (p.Met614Thr) rs1961224273
NM_002582.4(PARN):c.1843AAG[3] (p.Lys616dup) rs1961223739
NM_002582.4(PARN):c.184A>G (p.Met62Val) rs756788280
NM_002582.4(PARN):c.1850A>T (p.Glu617Val) rs1340012887
NM_002582.4(PARN):c.1858C>T (p.Pro620Ser)
NM_002582.4(PARN):c.1864+12A>T
NM_002582.4(PARN):c.1864+5G>T
NM_002582.4(PARN):c.1865G>A (p.Gly622Glu) rs1567278518
NM_002582.4(PARN):c.1878G>T (p.Lys626Asn)
NM_002582.4(PARN):c.1881C>A (p.Asn627Lys)
NM_002582.4(PARN):c.1881C>G (p.Asn627Lys)
NM_002582.4(PARN):c.1892C>G (p.Thr631Arg)
NM_002582.4(PARN):c.1895T>G (p.Leu632Arg)
NM_002582.4(PARN):c.189C>G (p.Asp63Glu)
NM_002582.4(PARN):c.18C>G (p.Ser6Arg)
NM_002582.4(PARN):c.19+3G>A
NM_002582.4(PARN):c.1900G>A (p.Glu634Lys)
NM_002582.4(PARN):c.1911C>A (p.Asp637Glu)
NM_002582.4(PARN):c.1915T>C (p.Trp639Arg)
NM_002582.4(PARN):c.1916G>A (p.Trp639Ter) rs1960716266
NM_002582.4(PARN):c.192T>G (p.Phe64Leu)
NM_002582.4(PARN):c.193T>A (p.Leu65Met)
NM_002582.4(PARN):c.201T>G (p.Phe67Leu)
NM_002582.4(PARN):c.20A>C (p.Asn7Thr)
NM_002582.4(PARN):c.218C>T (p.Thr73Ile) rs2151823476
NM_002582.4(PARN):c.227A>G (p.Tyr76Cys) rs752306700
NM_002582.4(PARN):c.233A>G (p.Tyr78Cys)
NM_002582.4(PARN):c.242C>T (p.Ser81Leu)
NM_002582.4(PARN):c.245+10_245+34del
NM_002582.4(PARN):c.245+3A>G
NM_002582.4(PARN):c.254C>G (p.Thr85Arg)
NM_002582.4(PARN):c.254C>T (p.Thr85Met)
NM_002582.4(PARN):c.259T>G (p.Ser87Ala)
NM_002582.4(PARN):c.270C>T (p.Phe90=)
NM_002582.4(PARN):c.272A>T (p.Tyr91Phe) rs201765587
NM_002582.4(PARN):c.278T>C (p.Phe93Ser)
NM_002582.4(PARN):c.293A>G (p.Asn98Ser)
NM_002582.4(PARN):c.296G>C (p.Arg99Thr)
NM_002582.4(PARN):c.298T>A (p.Ser100Thr)
NM_002582.4(PARN):c.299C>A (p.Ser100Tyr) rs759622779
NM_002582.4(PARN):c.308A>T (p.Asp103Val)
NM_002582.4(PARN):c.314A>G (p.Lys105Arg)
NM_002582.4(PARN):c.319G>A (p.Val107Ile) rs1338274189
NM_002582.4(PARN):c.323G>T (p.Cys108Phe)
NM_002582.4(PARN):c.327+3A>C
NM_002582.4(PARN):c.328-17T>G
NM_002582.4(PARN):c.32A>G (p.Asn11Ser)
NM_002582.4(PARN):c.336C>A (p.Ser112Arg)
NM_002582.4(PARN):c.338T>A (p.Ile113Asn) rs376765477
NM_002582.4(PARN):c.338T>C (p.Ile113Thr)
NM_002582.4(PARN):c.358G>A (p.Gly120Arg) rs1596886075
NM_002582.4(PARN):c.35T>A (p.Leu12His)
NM_002582.4(PARN):c.364G>A (p.Asp122Asn)
NM_002582.4(PARN):c.364G>C (p.Asp122His) rs779555557
NM_002582.4(PARN):c.37C>T (p.His13Tyr)
NM_002582.4(PARN):c.388+6A>T
NM_002582.4(PARN):c.388G>A (p.Gly130Arg)
NM_002582.4(PARN):c.391A>G (p.Ile131Val)
NM_002582.4(PARN):c.394C>G (p.Pro132Ala)
NM_002582.4(PARN):c.403A>G (p.Asn135Asp)
NM_002582.4(PARN):c.418A>G (p.Arg140Gly) rs778885248
NM_002582.4(PARN):c.434A>C (p.Gln145Pro) rs1195236338
NM_002582.4(PARN):c.466G>A (p.Ala156Thr)
NM_002582.4(PARN):c.467C>T (p.Ala156Val) rs1341620972
NM_002582.4(PARN):c.470G>A (p.Gly157Glu)
NM_002582.4(PARN):c.473C>G (p.Ala158Gly)
NM_002582.4(PARN):c.47A>G (p.Tyr16Cys)
NM_002582.4(PARN):c.512T>C (p.Val171Ala)
NM_002582.4(PARN):c.514A>C (p.Thr172Pro)
NM_002582.4(PARN):c.51G>C (p.Gln17His)
NM_002582.4(PARN):c.520C>A (p.Pro174Thr)
NM_002582.4(PARN):c.523G>A (p.Glu175Lys)
NM_002582.4(PARN):c.543T>G (p.Ile181Met)
NM_002582.4(PARN):c.550G>A (p.Val184Met)
NM_002582.4(PARN):c.551T>G (p.Val184Gly)
NM_002582.4(PARN):c.554T>C (p.Val185Ala)
NM_002582.4(PARN):c.555-16T>A
NM_002582.4(PARN):c.555-3C>T
NM_002582.4(PARN):c.566A>G (p.Glu189Gly)
NM_002582.4(PARN):c.569A>G (p.Asp190Gly) rs769599205
NM_002582.4(PARN):c.57A>G (p.Ile19Met) rs1972904968
NM_002582.4(PARN):c.587A>C (p.Glu196Ala)
NM_002582.4(PARN):c.591C>T (p.Asn197=)
NM_002582.4(PARN):c.59A>G (p.Glu20Gly) rs2151826832
NM_002582.4(PARN):c.600G>C (p.Leu200Phe)
NM_002582.4(PARN):c.616A>G (p.Thr206Ala)
NM_002582.4(PARN):c.620+3_620+4delinsAG rs1971361914
NM_002582.4(PARN):c.621G>T (p.Gly207=) rs964560089
NM_002582.4(PARN):c.625C>G (p.Gln209Glu) rs190870967
NM_002582.4(PARN):c.628A>G (p.Arg210Gly)
NM_002582.4(PARN):c.635T>C (p.Leu212Pro)
NM_002582.4(PARN):c.644A>G (p.Gln215Arg)
NM_002582.4(PARN):c.655T>G (p.Trp219Gly) rs1971316192
NM_002582.4(PARN):c.659+2dup
NM_002582.4(PARN):c.659+4_659+7del rs759131762
NM_002582.4(PARN):c.662A>G (p.Tyr221Cys)
NM_002582.4(PARN):c.664C>G (p.Pro222Ala) rs1971195178
NM_002582.4(PARN):c.665C>G (p.Pro222Arg) rs770353163
NM_002582.4(PARN):c.671G>A (p.Gly224Asp)
NM_002582.4(PARN):c.689T>C (p.Leu230Ser)
NM_002582.4(PARN):c.697G>A (p.Glu233Lys)
NM_002582.4(PARN):c.707A>G (p.Glu236Gly)
NM_002582.4(PARN):c.707A>T (p.Glu236Val)
NM_002582.4(PARN):c.70T>C (p.Phe24Leu)
NM_002582.4(PARN):c.712T>C (p.Tyr238His) rs1330990528
NM_002582.4(PARN):c.715A>G (p.Ile239Val)
NM_002582.4(PARN):c.718G>A (p.Val240Ile)
NM_002582.4(PARN):c.718G>C (p.Val240Leu)
NM_002582.4(PARN):c.724A>G (p.Ser242Gly) rs2151787480
NM_002582.4(PARN):c.729A>C (p.Lys243Asn) rs1172901128
NM_002582.4(PARN):c.734A>G (p.Asp245Gly)
NM_002582.4(PARN):c.736G>A (p.Glu246Lys)
NM_002582.4(PARN):c.736GAA[2] (p.Glu248del)
NM_002582.4(PARN):c.746G>C (p.Arg249Pro)
NM_002582.4(PARN):c.748A>C (p.Lys250Gln)
NM_002582.4(PARN):c.749A>G (p.Lys250Arg)
NM_002582.4(PARN):c.751A>G (p.Arg251Gly)
NM_002582.4(PARN):c.755G>A (p.Arg252Lys)
NM_002582.4(PARN):c.755G>C (p.Arg252Thr)
NM_002582.4(PARN):c.761A>T (p.Gln254Leu)
NM_002582.4(PARN):c.782A>G (p.Gln261Arg)
NM_002582.4(PARN):c.783+4A>C
NM_002582.4(PARN):c.783+4A>T rs1317955775
NM_002582.4(PARN):c.783+5T>C rs2151787329
NM_002582.4(PARN):c.783G>A (p.Gln261=) rs1261797823
NM_002582.4(PARN):c.787G>C (p.Glu263Gln)
NM_002582.4(PARN):c.787_788delinsTT (p.Glu263Leu)
NM_002582.4(PARN):c.790C>G (p.Leu264Val)
NM_002582.4(PARN):c.7A>G (p.Ile3Val) rs1567474981
NM_002582.4(PARN):c.823C>G (p.His275Asp)
NM_002582.4(PARN):c.826G>A (p.Ala276Thr)
NM_002582.4(PARN):c.830T>G (p.Ile277Ser)
NM_002582.4(PARN):c.839C>T (p.Ser280Leu) rs774827522
NM_002582.4(PARN):c.841-3T>A
NM_002582.4(PARN):c.842G>A (p.Gly281Glu)
NM_002582.4(PARN):c.851T>G (p.Val284Gly)
NM_002582.4(PARN):c.854T>C (p.Ile285Thr) rs1970312112
NM_002582.4(PARN):c.865A>G (p.Met289Val)
NM_002582.4(PARN):c.866T>C (p.Met289Thr)
NM_002582.4(PARN):c.867G>A (p.Met289Ile)
NM_002582.4(PARN):c.872T>G (p.Leu291Trp)
NM_002582.4(PARN):c.889G>A (p.Val297Ile)
NM_002582.4(PARN):c.904T>C (p.Cys302Arg)
NM_002582.4(PARN):c.908C>G (p.Pro303Arg) rs1211898404
NM_002582.4(PARN):c.910C>G (p.Leu304Val)
NM_002582.4(PARN):c.918+4A>G
NM_002582.4(PARN):c.918G>A (p.Ala306=) rs2151767064
NM_002582.4(PARN):c.919-5T>A rs1969855483
NM_002582.4(PARN):c.919G>A (p.Asp307Asn) rs755489002
NM_002582.4(PARN):c.924A>C (p.Leu308Phe) rs1336426171
NM_002582.4(PARN):c.937G>A (p.Glu313Lys) rs2151757148
NM_002582.4(PARN):c.952G>A (p.Val318Ile)
NM_002582.4(PARN):c.973A>G (p.Thr325Ala)
NM_002582.4(PARN):c.980T>C (p.Leu327Ser)
NM_002582.4(PARN):c.988A>G (p.Ser330Gly)
NM_002582.4(PARN):c.991A>G (p.Thr331Ala)
NM_002582.4(PARN):c.997C>A (p.Pro333Thr)
NM_002755.4(MAP2K1):c.*17A>T
NM_002755.4(MAP2K1):c.*917del rs886051370
NM_002755.4(MAP2K1):c.*917dup rs886051370
NM_002755.4(MAP2K1):c.-7G>A
NM_002755.4(MAP2K1):c.1022+6T>G
NM_002755.4(MAP2K1):c.1023-4T>A
NM_002755.4(MAP2K1):c.1030A>C (p.Lys344Gln)
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.1068+5G>A
NM_002755.4(MAP2K1):c.1166A>G (p.His389Arg)
NM_002755.4(MAP2K1):c.154G>A (p.Ala52Thr)
NM_002755.4(MAP2K1):c.174G>T (p.Gln58His) rs2093484335
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr) rs1057519732
NM_002755.4(MAP2K1):c.427A>C (p.Met143Leu)
NM_002755.4(MAP2K1):c.428T>C (p.Met143Thr)
NM_002755.4(MAP2K1):c.439-19C>G
NM_002755.4(MAP2K1):c.510C>T (p.Ser170=)
NM_002755.4(MAP2K1):c.516+1G>A rs1240248728
NM_002755.4(MAP2K1):c.516+3G>A
NM_002755.4(MAP2K1):c.528C>T (p.Gly176=)
NM_002755.4(MAP2K1):c.568+2T>C
NM_002755.4(MAP2K1):c.568+4A>G
NM_002755.4(MAP2K1):c.646A>G (p.Ile216Val)
NM_002755.4(MAP2K1):c.80+5G>A
NM_002755.4(MAP2K1):c.801T>A (p.Asp267Glu)
NM_002755.4(MAP2K1):c.875C>G (p.Thr292Ser) rs397516794
NM_002755.4(MAP2K1):c.893G>C (p.Ser298Thr)
NM_002755.4(MAP2K1):c.896-5T>C rs748953467
NM_002755.4(MAP2K1):c.914G>A (p.Arg305Gln) rs1595887104
NM_002755.4(MAP2K1):c.961-10G>C rs2140682882
NM_002855.5(NECTIN1):c.*1087G>A rs778554225
NM_002855.5(NECTIN1):c.*1108G>C rs377399603
NM_002855.5(NECTIN1):c.*1126C>T rs543126843
NM_002855.5(NECTIN1):c.*1179C>G rs142206052
NM_002855.5(NECTIN1):c.*1654C>G rs1864696619
NM_002855.5(NECTIN1):c.*165G>T rs574144297
NM_002855.5(NECTIN1):c.*1760C>G rs1864692767
NM_002855.5(NECTIN1):c.*2692C>G rs1864675866
NM_002855.5(NECTIN1):c.*269C>T rs138302957
NM_002855.5(NECTIN1):c.*2733T>C rs79306256
NM_002855.5(NECTIN1):c.*2750C>T rs1433590018
NM_002855.5(NECTIN1):c.*2852T>G rs1864673248
NM_002855.5(NECTIN1):c.*2902A>C rs372246353
NM_002855.5(NECTIN1):c.*3087C>G rs575574028
NM_002855.5(NECTIN1):c.*3174C>A rs1864665824
NM_002855.5(NECTIN1):c.*3351G>A rs1051657215
NM_002855.5(NECTIN1):c.*3405A>C rs1864660056
NM_002855.5(NECTIN1):c.*3647G>T rs967644002
NM_002855.5(NECTIN1):c.*46T>C rs1025182829
NM_002855.5(NECTIN1):c.*51G>C rs992478322
NM_002855.5(NECTIN1):c.*53A>C rs1204545098
NM_002855.5(NECTIN1):c.*554G>A rs369160682
NM_002855.5(NECTIN1):c.*72C>G rs59612995
NM_002855.5(NECTIN1):c.*780G>T rs115196807
NM_002855.5(NECTIN1):c.*883T>G rs918038363
NM_002855.5(NECTIN1):c.*917G>T rs979562618
NM_002855.5(NECTIN1):c.*961G>A rs567953400
NM_002855.5(NECTIN1):c.-102C>A rs868396650
NM_002855.5(NECTIN1):c.-146A>C rs1040977053
NM_002855.5(NECTIN1):c.-151A>C rs900655328
NM_002855.5(NECTIN1):c.1019C>A (p.Pro340Gln) rs375956459
NM_002855.5(NECTIN1):c.1078G>A (p.Val360Met) rs758801522
NM_002855.5(NECTIN1):c.1347C>T (p.Gly449=) rs116441631
NM_002855.5(NECTIN1):c.1380T>C (p.Tyr460=) rs1864734746
NM_002855.5(NECTIN1):c.328C>T (p.Arg110Cys) rs754922587
NM_002855.5(NECTIN1):c.3G>A (p.Met1Ile) rs1865957091
NM_002855.5(NECTIN1):c.42G>C (p.Trp14Cys) rs1591494857
NM_002855.5(NECTIN1):c.444T>C (p.Asn148=) rs1864986117
NM_003722.5(TP63):c.1142A>G (p.Asn381Ser)
NM_003722.5(TP63):c.1160T>A (p.Met387Lys)
NM_003722.5(TP63):c.1169T>A (p.Ile390Asn) rs1718128235
NM_003722.5(TP63):c.1223G>A (p.Arg408His)
NM_003722.5(TP63):c.122C>T (p.Ser41Phe)
NM_003722.5(TP63):c.131C>A (p.Thr44Lys)
NM_003722.5(TP63):c.1350-6263G>A
NM_003722.5(TP63):c.1350-7T>A
NM_003722.5(TP63):c.1362G>T (p.Gln454His)
NM_003722.5(TP63):c.1481C>T (p.Thr494Ile)
NM_003722.5(TP63):c.1507+6_1507+7del rs1239031252
NM_003722.5(TP63):c.1518G>A (p.Met506Ile)
NM_003722.5(TP63):c.1525C>T (p.His509Tyr)
NM_003722.5(TP63):c.1528A>G (p.Met510Val)
NM_003722.5(TP63):c.1534A>G (p.Met512Val)
NM_003722.5(TP63):c.1537G>C (p.Ala513Pro) rs1196701463
NM_003722.5(TP63):c.1565C>T (p.Thr522Ile)
NM_003722.5(TP63):c.1570G>A (p.Ala524Thr) rs1403304957
NM_003722.5(TP63):c.1583C>A (p.Pro528Gln) rs761041436
NM_003722.5(TP63):c.1594C>G (p.Pro532Ala)
NM_003722.5(TP63):c.1615C>T (p.Pro539Ser)
NM_003722.5(TP63):c.161T>C (p.Val54Ala)
NM_003722.5(TP63):c.1724A>G (p.Gln575Arg)
NM_003722.5(TP63):c.1797G>A (p.Lys599=)
NM_003722.5(TP63):c.1802T>C (p.Ile601Thr)
NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del) rs1294809942
NM_003722.5(TP63):c.1835C>A (p.Ser612Tyr)
NM_003722.5(TP63):c.1847T>G (p.Leu616Arg)
NM_003722.5(TP63):c.1861A>G (p.Ser621Gly)
NM_003722.5(TP63):c.19C>T (p.Arg7Trp)
NM_003722.5(TP63):c.2009A>G (p.Asn670Ser)
NM_003722.5(TP63):c.2036G>A (p.Gly679Glu)
NM_003722.5(TP63):c.2040G>C (p.Glu680Asp)
NM_003722.5(TP63):c.325-18411A>G
NM_003722.5(TP63):c.362A>G (p.Asp121Gly)
NM_003722.5(TP63):c.543C>G (p.Phe181Leu)
NM_003722.5(TP63):c.609C>T (p.Cys203=)
NM_003722.5(TP63):c.799G>A (p.Val267Ile) rs768752805
NM_003722.5(TP63):c.809A>G (p.Asn270Ser)
NM_003823.4(TNFRSF6B):c.168del (p.Phe57fs) rs1305695581
NM_003823.4(TNFRSF6B):c.743C>T (p.Ala248Val) rs1555816251
NM_003823.4(TNFRSF6B):c.837G>T (p.Ala279=) rs541025487
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*385G>C rs1959052059
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*52C>T rs1959054328
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.-170C>G rs1006263046
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004278.4(PIGL):c.*185A>C rs886052644
NM_004278.4(PIGL):c.169T>C (p.Phe57Leu) rs587784324
NM_004278.4(PIGL):c.176C>A (p.Pro59His) rs1057518948
NM_004278.4(PIGL):c.258_259del (p.Glu86fs) rs763616470
NM_004278.4(PIGL):c.262C>G (p.Arg88Gly) rs1064795400
NM_004278.4(PIGL):c.398A>G (p.Gln133Arg) rs749202572
NM_004278.4(PIGL):c.426+8G>A rs145914582
NM_004278.4(PIGL):c.535G>T (p.Val179Leu) rs116591352
NM_004278.4(PIGL):c.593C>T (p.Pro198Leu)
NM_004278.4(PIGL):c.652C>G (p.Gln218Glu) rs139004722
NM_004278.4(PIGL):c.725G>C (p.Arg242Pro) rs750654333
NM_004333.6(BRAF):c.1133A>G (p.Asn378Ser) rs1278451495
NM_004333.6(BRAF):c.1146G>C (p.Leu382Phe) rs1801519948
NM_004333.6(BRAF):c.1178-3T>C
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_004333.6(BRAF):c.1204C>T (p.Pro402Ser)
NM_004333.6(BRAF):c.1205C>A (p.Pro402His) rs199927105
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala) rs749792302
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser) rs2129153151
NM_004333.6(BRAF):c.1331G>A (p.Arg444Gln) rs1800890866
NM_004333.6(BRAF):c.1346A>G (p.Asp449Gly)
NM_004333.6(BRAF):c.1365G>T (p.Gly455=)
NM_004333.6(BRAF):c.1382A>G (p.Gln461Arg) rs1554399925
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1433-11T>A
NM_004333.6(BRAF):c.1558T>G (p.Ser520Ala)
NM_004333.6(BRAF):c.160A>G (p.Ile54Val)
NM_004333.6(BRAF):c.1627A>G (p.Ile543Val)
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1789C>T (p.Leu597=) rs121913369
NM_004333.6(BRAF):c.1820C>T (p.Ser607Phe) rs1255101216
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His) rs746010267
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.2035A>T (p.Ser679Cys)
NM_004333.6(BRAF):c.2039A>G (p.Lys680Arg)
NM_004333.6(BRAF):c.2046G>A (p.Arg682=)
NM_004333.6(BRAF):c.2065A>G (p.Met689Val)
NM_004333.6(BRAF):c.206G>C (p.Gly69Ala) rs1554412417
NM_004333.6(BRAF):c.208G>A (p.Gly70Arg)
NM_004333.6(BRAF):c.2127+4A>G
NM_004333.6(BRAF):c.2128-16_2128-15del rs886062015
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-28dup rs60814637
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.2182G>A (p.Ala728Thr)
NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser)
NM_004333.6(BRAF):c.2231G>C (p.Ser744Thr)
NM_004333.6(BRAF):c.22G>T (p.Gly8Cys)
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn) rs1033856250
NM_004333.6(BRAF):c.282A>G (p.Gln94=)
NM_004333.6(BRAF):c.366TTC[1] (p.Ser127del)
NM_004333.6(BRAF):c.39G>C (p.Glu13Asp) rs868441785
NM_004333.6(BRAF):c.416A>C (p.Gln139Pro)
NM_004333.6(BRAF):c.45C>T (p.Gly15=)
NM_004333.6(BRAF):c.505-20A>G
NM_004333.6(BRAF):c.517T>C (p.Cys173Arg) rs749677118
NM_004333.6(BRAF):c.608+6G>T
NM_004333.6(BRAF):c.679T>A (p.Leu227Met)
NM_004333.6(BRAF):c.67A>G (p.Met23Val) rs1818671266
NM_004333.6(BRAF):c.712-221T>C rs1803141356
NM_004333.6(BRAF):c.789_790del (p.Cys264fs) rs1803104915
NM_004333.6(BRAF):c.957C>A (p.Ser319=)
NM_004333.6(BRAF):c.958G>A (p.Ala320Thr) rs1461617552
NM_004333.6(BRAF):c.980G>A (p.Gly327Glu)
NM_004360.5(CDH1):c.1107C>A (p.Asn369Lys)
NM_004360.5(CDH1):c.1174G>C (p.Val392Leu) rs141864044
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn) rs1960893142
NM_004360.5(CDH1):c.1234G>A (p.Val412Ile) rs587782189
NM_004360.5(CDH1):c.1320G>A (p.Lys440=)
NM_004360.5(CDH1):c.1376T>C (p.Val459Ala) rs1555516109
NM_004360.5(CDH1):c.1403C>T (p.Thr468Ile) rs876659141
NM_004360.5(CDH1):c.1430T>C (p.Val477Ala)
NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn) rs2152135021
NM_004360.5(CDH1):c.1585A>G (p.Thr529Ala) rs776890776
NM_004360.5(CDH1):c.1626T>G (p.Ile542Met) rs1961075798
NM_004360.5(CDH1):c.1649G>C (p.Arg550Thr) rs771649648
NM_004360.5(CDH1):c.1741C>T (p.Leu581Phe) rs1567512154
NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser) rs35187787
NM_004360.5(CDH1):c.1927A>G (p.Asn643Asp) rs587781540
NM_004360.5(CDH1):c.202T>G (p.Tyr68Asp) rs1060501218
NM_004360.5(CDH1):c.2038A>G (p.Thr680Ala) rs876658936
NM_004360.5(CDH1):c.2116C>G (p.Gln706Glu)
NM_004360.5(CDH1):c.2222T>C (p.Leu741Ser)
NM_004360.5(CDH1):c.2356G>A (p.Asp786Asn) rs876659218
NM_004360.5(CDH1):c.2435A>G (p.Asp812Gly) rs878854684
NM_004360.5(CDH1):c.2578G>C (p.Asp860His) rs1412506259
NM_004360.5(CDH1):c.2623A>G (p.Met875Val) rs1555518287
NM_004360.5(CDH1):c.320A>G (p.Tyr107Cys) rs1060501241
NM_004360.5(CDH1):c.466T>G (p.Trp156Gly)
NM_004360.5(CDH1):c.488G>C (p.Cys163Ser) rs748783182
NM_004360.5(CDH1):c.56C>G (p.Ser19Cys) rs1221633501
NM_004360.5(CDH1):c.779C>T (p.Pro260Leu) rs1960783816
NM_004360.5(CDH1):c.862G>C (p.Asp288His) rs2152131922
NM_004360.5(CDH1):c.946A>G (p.Met316Val) rs761182866
NM_004415.3(DSP):c.-260A>G rs886061738
NM_004415.4(DSP):c.*300C>A rs886061750
NM_004415.4(DSP):c.*305C>A rs886061751
NM_004415.4(DSP):c.*384C>A rs886061753
NM_004415.4(DSP):c.*386G>T rs886061754
NM_004415.4(DSP):c.*598G>T rs886061756
NM_004415.4(DSP):c.*5_*6dup
NM_004415.4(DSP):c.*681C>A rs886061757
NM_004415.4(DSP):c.-179T>C rs886061741
NM_004415.4(DSP):c.-190G>T rs886061740
NM_004415.4(DSP):c.-228C>A rs886061739
NM_004415.4(DSP):c.-36C>A rs886061743
NM_004415.4(DSP):c.-70C>T rs1757982573
NM_004415.4(DSP):c.1021C>G (p.His341Asp)
NM_004415.4(DSP):c.1027G>A (p.Ala343Thr)
NM_004415.4(DSP):c.1035C>A (p.Asp345Glu)
NM_004415.4(DSP):c.1044+3A>C rs765089914
NM_004415.4(DSP):c.1044+3A>G rs765089914
NM_004415.4(DSP):c.1044+5G>T
NM_004415.4(DSP):c.1044G>A (p.Glu348=) rs1758868593
NM_004415.4(DSP):c.1045G>C (p.Ala349Pro)
NM_004415.4(DSP):c.1052T>G (p.Met351Arg)
NM_004415.4(DSP):c.1054G>A (p.Asp352Asn)
NM_004415.4(DSP):c.1056_1061del (p.Asp352_Leu354delinsGlu) rs1758892954
NM_004415.4(DSP):c.1058C>G (p.Thr353Ser)
NM_004415.4(DSP):c.1060C>G (p.Leu354Val)
NM_004415.4(DSP):c.1061T>C (p.Leu354Pro)
NM_004415.4(DSP):c.1061T>G (p.Leu354Arg)
NM_004415.4(DSP):c.1066A>G (p.Thr356Ala)
NM_004415.4(DSP):c.1066A>T (p.Thr356Ser) rs1052446501
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1067C>T (p.Thr356Met) rs780626687
NM_004415.4(DSP):c.1074G>C (p.Trp358Cys) rs1758893971
NM_004415.4(DSP):c.107G>A (p.Gly36Asp)
NM_004415.4(DSP):c.107G>T (p.Gly36Val)
NM_004415.4(DSP):c.1084C>T (p.Leu362Phe)
NM_004415.4(DSP):c.1089G>C (p.Gln363His)
NM_004415.4(DSP):c.1094C>G (p.Thr365Ser) rs754577019
NM_004415.4(DSP):c.109A>G (p.Thr37Ala)
NM_004415.4(DSP):c.1102A>G (p.Ile368Val) rs794728112
NM_004415.4(DSP):c.1106A>T (p.Asp369Val)
NM_004415.4(DSP):c.1108G>C (p.Val370Leu)
NM_004415.4(DSP):c.110C>G (p.Thr37Ser)
NM_004415.4(DSP):c.1112A>C (p.His371Pro) rs397516912
NM_004415.4(DSP):c.1112A>G (p.His371Arg) rs397516912
NM_004415.4(DSP):c.1112A>T (p.His371Leu)
NM_004415.4(DSP):c.1115T>C (p.Leu372Pro) rs1758895792
NM_004415.4(DSP):c.1126G>C (p.Ala376Pro)
NM_004415.4(DSP):c.1132T>A (p.Tyr378Asn)
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile) rs757853478
NM_004415.4(DSP):c.1142T>C (p.Phe381Ser) rs1209991251
NM_004415.4(DSP):c.1159T>C (p.Ser387Pro)
NM_004415.4(DSP):c.1160C>T (p.Ser387Phe)
NM_004415.4(DSP):c.1165G>A (p.Glu389Lys) rs1758909720
NM_004415.4(DSP):c.116G>A (p.Arg39Lys)
NM_004415.4(DSP):c.1181G>C (p.Gly394Ala)
NM_004415.4(DSP):c.1184T>C (p.Leu395Pro)
NM_004415.4(DSP):c.1187A>C (p.Gln396Pro)
NM_004415.4(DSP):c.11A>G (p.Asn4Ser)
NM_004415.4(DSP):c.1201A>G (p.Lys401Glu)
NM_004415.4(DSP):c.1204A>G (p.Lys402Glu)
NM_004415.4(DSP):c.1216G>A (p.Asp406Asn) rs1758911711
NM_004415.4(DSP):c.1222A>T (p.Asn408Tyr)
NM_004415.4(DSP):c.1223A>G (p.Asn408Ser)
NM_004415.4(DSP):c.1229C>A (p.Pro410His)
NM_004415.4(DSP):c.122A>G (p.Tyr41Cys)
NM_004415.4(DSP):c.1232T>C (p.Leu411Pro)
NM_004415.4(DSP):c.1236G>A (p.Gln412=)
NM_004415.4(DSP):c.123_125dup (p.Tyr42_Ser43insTyr)
NM_004415.4(DSP):c.1240C>G (p.Leu414Val) rs1758912999
NM_004415.4(DSP):c.1241T>A (p.Leu414Gln)
NM_004415.4(DSP):c.1256A>G (p.Lys419Arg)
NM_004415.4(DSP):c.125A>G (p.Tyr42Cys)
NM_004415.4(DSP):c.1266+3A>G
NM_004415.4(DSP):c.1266+6G>A rs73375345
NM_004415.4(DSP):c.1266G>A (p.Glu422=)
NM_004415.4(DSP):c.1266G>C (p.Glu422Asp) rs1758913797
NM_004415.4(DSP):c.1269A>C (p.Lys423Asn)
NM_004415.4(DSP):c.1274G>T (p.Arg425Leu) rs397516916
NM_004415.4(DSP):c.127T>C (p.Ser43Pro)
NM_004415.4(DSP):c.1282A>G (p.Ile428Val)
NM_004415.4(DSP):c.128C>G (p.Ser43Cys)
NM_004415.4(DSP):c.128C>T (p.Ser43Phe) rs1757997664
NM_004415.4(DSP):c.1294A>G (p.Lys432Glu)
NM_004415.4(DSP):c.1303G>A (p.Val435Met)
NM_004415.4(DSP):c.1308G>C (p.Gln436His) rs1057522715
NM_004415.4(DSP):c.1310A>G (p.Asn437Ser) rs2113674233
NM_004415.4(DSP):c.1325C>T (p.Ser442Phe) rs1321159751
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr) rs1554106843
NM_004415.4(DSP):c.1333A>G (p.Ile445Val)
NM_004415.4(DSP):c.1335T>G (p.Ile445Met) rs898213877
NM_004415.4(DSP):c.133C>T (p.Arg45Cys)
NM_004415.4(DSP):c.1341G>T (p.Gln447His)
NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu) rs1581802595
NM_004415.4(DSP):c.1351C>T (p.Arg451Cys) rs1057518309
NM_004415.4(DSP):c.1352G>A (p.Arg451His) rs786204294
NM_004415.4(DSP):c.1352G>C (p.Arg451Pro)
NM_004415.4(DSP):c.1357C>A (p.Pro453Thr)
NM_004415.4(DSP):c.1358C>T (p.Pro453Leu)
NM_004415.4(DSP):c.1370G>A (p.Ser457Asn)
NM_004415.4(DSP):c.1372A>T (p.Asn458Tyr)
NM_004415.4(DSP):c.1380C>T (p.Pro460=) rs1451086273
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr) rs1554106853
NM_004415.4(DSP):c.1392A>C (p.Arg464Ser) rs1403332231
NM_004415.4(DSP):c.1396C>T (p.Leu466Phe)
NM_004415.4(DSP):c.1397T>C (p.Leu466Pro) rs727504661
NM_004415.4(DSP):c.1405T>G (p.Tyr469Asp)
NM_004415.4(DSP):c.1411C>A (p.Gln471Lys)
NM_004415.4(DSP):c.1414G>A (p.Asp472Asn) rs2113674467
NM_004415.4(DSP):c.1419G>A (p.Gln473=)
NM_004415.4(DSP):c.1419G>T (p.Gln473His)
NM_004415.4(DSP):c.1420-3C>T rs786204296
NM_004415.4(DSP):c.1425C>G (p.Ile475Met)
NM_004415.4(DSP):c.1426G>A (p.Val476Met) rs367987327
NM_004415.4(DSP):c.1426G>C (p.Val476Leu)
NM_004415.4(DSP):c.1426G>T (p.Val476Leu)
NM_004415.4(DSP):c.1434G>C (p.Lys478Asn)
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg) rs1288305110
NM_004415.4(DSP):c.1441G>A (p.Glu481Lys) rs1758958794
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg) rs746816016
NM_004415.4(DSP):c.1444T>G (p.Cys482Gly)
NM_004415.4(DSP):c.1445G>A (p.Cys482Tyr) rs1472091469
NM_004415.4(DSP):c.1460A>G (p.Asn487Ser)
NM_004415.4(DSP):c.1463A>G (p.Asn488Ser)
NM_004415.4(DSP):c.146C>T (p.Thr49Ile) rs151153655
NM_004415.4(DSP):c.1483G>T (p.Val495Leu) rs372014020
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe) rs1064795582
NM_004415.4(DSP):c.1484T>C (p.Val495Ala) rs727504518
NM_004415.4(DSP):c.1484T>G (p.Val495Gly) rs727504518
NM_004415.4(DSP):c.1487C>G (p.Thr496Arg) rs374283517
NM_004415.4(DSP):c.1489G>A (p.Gly497Ser)
NM_004415.4(DSP):c.148G>C (p.Asp50His)
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala) rs1581803474
NM_004415.4(DSP):c.1492C>T (p.Pro498Ser) rs1581803474
NM_004415.4(DSP):c.1493C>G (p.Pro498Arg)
NM_004415.4(DSP):c.14G>C (p.Gly5Ala) rs1757989474
NM_004415.4(DSP):c.1502T>A (p.Val501Asp)
NM_004415.4(DSP):c.1504G>A (p.Asp502Asn) rs750547425
NM_004415.4(DSP):c.1509G>A (p.Met503Ile)
NM_004415.4(DSP):c.1511T>G (p.Leu504Arg)
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
NM_004415.4(DSP):c.1529T>C (p.Leu510Pro) rs2113675644
NM_004415.4(DSP):c.1532T>G (p.Ile511Ser)
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu) rs730880079
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys) rs1407207091
NM_004415.4(DSP):c.1555G>T (p.Ala519Ser) rs2113675699
NM_004415.4(DSP):c.1556C>T (p.Ala519Val) rs1395532173
NM_004415.4(DSP):c.1558G>T (p.Val520Leu) rs777545428
NM_004415.4(DSP):c.1561G>A (p.Asp521Asn) rs1449447405
NM_004415.4(DSP):c.1563C>A (p.Asp521Glu) rs113378925
NM_004415.4(DSP):c.1565T>C (p.Leu522Pro) rs955640904
NM_004415.4(DSP):c.1574+5G>A rs2113675801
NM_004415.4(DSP):c.1574A>C (p.Lys525Thr)
NM_004415.4(DSP):c.1574A>G (p.Lys525Arg)
NM_004415.4(DSP):c.1575-4_1575-3del rs1759008080
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr) rs1561689358
NM_004415.4(DSP):c.158C>T (p.Ser53Leu) rs1398517175
NM_004415.4(DSP):c.1597A>G (p.Ile533Val)
NM_004415.4(DSP):c.1603G>A (p.Ala535Thr) rs777088675
NM_004415.4(DSP):c.1603G>C (p.Ala535Pro) rs777088675
NM_004415.4(DSP):c.1615C>A (p.Gln539Lys) rs727504498
NM_004415.4(DSP):c.1619T>C (p.Leu540Pro)
NM_004415.4(DSP):c.1624A>G (p.Ile542Val) rs2113677376
NM_004415.4(DSP):c.162C>G (p.Asp54Glu)
NM_004415.4(DSP):c.1653C>G (p.His551Gln)
NM_004415.4(DSP):c.1660A>G (p.Met554Val)
NM_004415.4(DSP):c.1664T>C (p.Ile555Thr)
NM_004415.4(DSP):c.1670T>C (p.Ile557Thr) rs1759012793
NM_004415.4(DSP):c.1672G>C (p.Glu558Gln)
NM_004415.4(DSP):c.1675A>G (p.Lys559Glu)
NM_004415.4(DSP):c.1679T>C (p.Ile560Thr)
NM_004415.4(DSP):c.167A>G (p.Tyr56Cys)
NM_004415.4(DSP):c.1682G>C (p.Arg561Thr)
NM_004415.4(DSP):c.1695C>G (p.Ile565Met)
NM_004415.4(DSP):c.1699A>C (p.Lys567Gln)
NM_004415.4(DSP):c.169T>C (p.Cys57Arg)
NM_004415.4(DSP):c.170+2dup rs2113629250
NM_004415.4(DSP):c.170+5G>A rs727502996
NM_004415.4(DSP):c.170+5G>C rs727502996
NM_004415.4(DSP):c.170+5del rs1554104240
NM_004415.4(DSP):c.170+5dup
NM_004415.4(DSP):c.1700A>G (p.Lys567Arg) rs2113677553
NM_004415.4(DSP):c.1701G>A (p.Lys567=)
NM_004415.4(DSP):c.1702-13T>A rs771235236
NM_004415.4(DSP):c.1702-15C>A
NM_004415.4(DSP):c.1702-16_1702-15delinsCT
NM_004415.4(DSP):c.1705A>G (p.Lys569Glu)
NM_004415.4(DSP):c.171-3dup rs1554105600
NM_004415.4(DSP):c.1711A>G (p.Met571Val)
NM_004415.4(DSP):c.1712T>C (p.Met571Thr)
NM_004415.4(DSP):c.1729A>C (p.Met577Leu) rs764127243
NM_004415.4(DSP):c.1737_1738delinsTT (p.Ile580Leu)
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile) rs1759048949
NM_004415.4(DSP):c.178G>A (p.Gly60Ser) rs982933033
NM_004415.4(DSP):c.17G>C (p.Gly6Ala) rs1339636876
NM_004415.4(DSP):c.1815_1820dup (p.Lys607_Ile608insArgLys)
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln) rs576661499
NM_004415.4(DSP):c.1840G>C (p.Asp614His)
NM_004415.4(DSP):c.1847A>G (p.Gln616Arg)
NM_004415.4(DSP):c.184A>T (p.Met62Leu)
NM_004415.4(DSP):c.1852C>T (p.His618Tyr)
NM_004415.4(DSP):c.1855T>C (p.Tyr619His)
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.4(DSP):c.186G>A (p.Met62Ile) rs1758488135
NM_004415.4(DSP):c.1870A>G (p.Ile624Val) rs1759053122
NM_004415.4(DSP):c.1873C>G (p.Gln625Glu) rs876657638
NM_004415.4(DSP):c.1880C>T (p.Pro627Leu) rs2113679213
NM_004415.4(DSP):c.1901C>A (p.Thr634Lys) rs139964486
NM_004415.4(DSP):c.1901C>T (p.Thr634Ile)
NM_004415.4(DSP):c.1902A>G (p.Thr634=) rs1759054491
NM_004415.4(DSP):c.1903+11G>T
NM_004415.4(DSP):c.1903+3C>T rs754326012
NM_004415.4(DSP):c.1903+3del rs1064793548
NM_004415.4(DSP):c.1903+5G>T
NM_004415.4(DSP):c.1904T>C (p.Val635Ala)
NM_004415.4(DSP):c.1928A>G (p.His643Arg) rs1759064128
NM_004415.4(DSP):c.1942G>T (p.Asp648Tyr) rs200409452
NM_004415.4(DSP):c.1945G>A (p.Val649Ile) rs2113679772
NM_004415.4(DSP):c.194A>G (p.His65Arg) rs771190708
NM_004415.4(DSP):c.194A>T (p.His65Leu) rs771190708
NM_004415.4(DSP):c.1950C>A (p.Asn650Lys)
NM_004415.4(DSP):c.1952A>G (p.His651Arg) rs1759065265
NM_004415.4(DSP):c.1954A>G (p.Asn652Asp)
NM_004415.4(DSP):c.1954A>T (p.Asn652Tyr)
NM_004415.4(DSP):c.1957A>G (p.Lys653Glu)
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
NM_004415.4(DSP):c.1964T>A (p.Ile655Asn)
NM_004415.4(DSP):c.1964T>C (p.Ile655Thr)
NM_004415.4(DSP):c.1965T>G (p.Ile655Met)
NM_004415.4(DSP):c.1968A>T (p.Glu656Asp) rs2113679857
NM_004415.4(DSP):c.1970C>A (p.Thr657Asn)
NM_004415.4(DSP):c.1970C>T (p.Thr657Ile) rs1014373689
NM_004415.4(DSP):c.1975A>G (p.Arg659Gly)
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del) rs1554107128
NM_004415.4(DSP):c.1985A>G (p.Asp662Gly)
NM_004415.4(DSP):c.1993G>A (p.Glu665Lys) rs2113679925
NM_004415.4(DSP):c.1996A>G (p.Thr666Ala)
NM_004415.4(DSP):c.1997C>T (p.Thr666Ile) rs200053977
NM_004415.4(DSP):c.1A>G (p.Met1Val) rs1131691557
NM_004415.4(DSP):c.2002A>G (p.Met668Val)
NM_004415.4(DSP):c.2002A>T (p.Met668Leu)
NM_004415.4(DSP):c.2006T>C (p.Leu669Pro)
NM_004415.4(DSP):c.2008A>G (p.Met670Val)
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly) rs758530970
NM_004415.4(DSP):c.2014C>A (p.Leu672Met)
NM_004415.4(DSP):c.201C>A (p.Asn67Lys)
NM_004415.4(DSP):c.2023A>T (p.Ile675Phe) rs142619902
NM_004415.4(DSP):c.2033A>G (p.Gln678Arg)
NM_004415.4(DSP):c.2035_2037del (p.Ile679del)
NM_004415.4(DSP):c.2036T>C (p.Ile679Thr) rs1561690811
NM_004415.4(DSP):c.2042A>G (p.His681Arg)
NM_004415.4(DSP):c.2047G>C (p.Glu683Gln)
NM_004415.4(DSP):c.2050G>T (p.Gly684Cys) rs1759071281
NM_004415.4(DSP):c.2055G>T (p.Arg685Ser)
NM_004415.4(DSP):c.2059A>T (p.Thr687Ser)
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu) rs1561690890
NM_004415.4(DSP):c.2080G>A (p.Ala694Thr) rs2113680169
NM_004415.4(DSP):c.2084A>G (p.Asp695Gly) rs2113680188
NM_004415.4(DSP):c.2087A>G (p.Gln696Arg) rs1759072711
NM_004415.4(DSP):c.2099A>G (p.His700Arg)
NM_004415.4(DSP):c.20C>T (p.Ser7Phe)
NM_004415.4(DSP):c.2106C>T (p.Ile702=)
NM_004415.4(DSP):c.2107A>G (p.Thr703Ala)
NM_004415.4(DSP):c.2110G>A (p.Val704Met)
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp) rs756272327
NM_004415.4(DSP):c.2130+5G>A
NM_004415.4(DSP):c.2134G>T (p.Val712Leu) rs397516922
NM_004415.4(DSP):c.2135T>C (p.Val712Ala) rs2113682966
NM_004415.4(DSP):c.2139G>T (p.Gln713His)
NM_004415.4(DSP):c.2143G>T (p.Asp715Tyr)
NM_004415.4(DSP):c.2146T>G (p.Ser716Ala) rs1759149630
NM_004415.4(DSP):c.2152G>A (p.Ala718Thr)
NM_004415.4(DSP):c.2153C>T (p.Ala718Val) rs764290255
NM_004415.4(DSP):c.2156T>C (p.Ile719Thr)
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys) rs963374775
NM_004415.4(DSP):c.2164G>T (p.Val722Phe) rs1581808686
NM_004415.4(DSP):c.2176C>G (p.Leu726Val) rs1759151851
NM_004415.4(DSP):c.2182G>C (p.Asp728His) rs794728116
NM_004415.4(DSP):c.2188C>T (p.Leu730Phe) rs2113683126
NM_004415.4(DSP):c.2191G>A (p.Ala731Thr)
NM_004415.4(DSP):c.2196C>G (p.Asn732Lys) rs1424884336
NM_004415.4(DSP):c.2197T>C (p.Phe733Leu)
NM_004415.4(DSP):c.2199C>G (p.Phe733Leu) rs1306942907
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys) rs1561692443
NM_004415.4(DSP):c.2204G>A (p.Gly735Asp)
NM_004415.4(DSP):c.2204G>T (p.Gly735Val) rs1759154089
NM_004415.4(DSP):c.2218T>C (p.Cys740Arg)
NM_004415.4(DSP):c.2229G>T (p.Gln743His)
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala) rs969462343
NM_004415.4(DSP):c.2239T>C (p.Phe747Leu)
NM_004415.4(DSP):c.2239T>G (p.Phe747Val)
NM_004415.4(DSP):c.2264A>G (p.Asn755Ser)
NM_004415.4(DSP):c.2275G>T (p.Val759Phe)
NM_004415.4(DSP):c.2278A>T (p.Thr760Ser)
NM_004415.4(DSP):c.2279C>A (p.Thr760Lys)
NM_004415.4(DSP):c.227A>G (p.Gln76Arg) rs1581790962
NM_004415.4(DSP):c.2282A>G (p.Asp761Gly)
NM_004415.4(DSP):c.2297+5A>G
NM_004415.4(DSP):c.2299T>G (p.Leu767Val) rs1561692940
NM_004415.4(DSP):c.2301A>C (p.Leu767Phe) rs1759176601
NM_004415.4(DSP):c.2302T>C (p.Cys768Arg)
NM_004415.4(DSP):c.2307A>C (p.Thr769=)
NM_004415.4(DSP):c.2314G>C (p.Ala772Pro) rs766440842
NM_004415.4(DSP):c.2317C>G (p.Leu773Val)
NM_004415.4(DSP):c.2321T>A (p.Leu774His)
NM_004415.4(DSP):c.232T>G (p.Cys78Gly) rs1758490063
NM_004415.4(DSP):c.2333T>C (p.Leu778Pro) rs1337668206
NM_004415.4(DSP):c.2338A>G (p.Thr780Ala)
NM_004415.4(DSP):c.233G>T (p.Cys78Phe)
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr) rs2113684062
NM_004415.4(DSP):c.2347A>G (p.Met783Val)
NM_004415.4(DSP):c.2356G>A (p.Val786Ile)
NM_004415.4(DSP):c.2359T>A (p.Tyr787Asn)
NM_004415.4(DSP):c.2360A>C (p.Tyr787Ser) rs778350289
NM_004415.4(DSP):c.2368A>G (p.Arg790Gly)
NM_004415.4(DSP):c.2386A>G (p.Thr796Ala) rs1554107526
NM_004415.4(DSP):c.2389G>C (p.Val797Leu)
NM_004415.4(DSP):c.238G>A (p.Asp80Asn) rs1453492594
NM_004415.4(DSP):c.2393G>T (p.Cys798Phe)
NM_004415.4(DSP):c.239A>G (p.Asp80Gly)
NM_004415.4(DSP):c.23A>T (p.His8Leu)
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.2404G>C (p.Asp802His)
NM_004415.4(DSP):c.2408A>C (p.Lys803Thr) rs1759183296
NM_004415.4(DSP):c.2411T>C (p.Val804Ala)
NM_004415.4(DSP):c.242G>T (p.Cys81Phe) rs140965835
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.4(DSP):c.2432T>G (p.Leu811Arg) rs869025391
NM_004415.4(DSP):c.2435A>T (p.Lys812Met) rs1268969488
NM_004415.4(DSP):c.2436+6T>C
NM_004415.4(DSP):c.2436G>A (p.Lys812=)
NM_004415.4(DSP):c.2437A>C (p.Lys813Gln) rs1395903631
NM_004415.4(DSP):c.2437A>G (p.Lys813Glu) rs1395903631
NM_004415.4(DSP):c.243C>T (p.Cys81=) rs947998304
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr) rs1393048121
NM_004415.4(DSP):c.2461A>C (p.Lys821Gln)
NM_004415.4(DSP):c.2462A>G (p.Lys821Arg)
NM_004415.4(DSP):c.2464A>C (p.Lys822Gln)
NM_004415.4(DSP):c.2466G>C (p.Lys822Asn)
NM_004415.4(DSP):c.2479A>G (p.Thr827Ala)
NM_004415.4(DSP):c.248T>C (p.Met83Thr) rs2113653951
NM_004415.4(DSP):c.2491G>A (p.Glu831Lys)
NM_004415.4(DSP):c.24C>A (p.His8Gln)
NM_004415.4(DSP):c.2504C>T (p.Ala835Val)
NM_004415.4(DSP):c.2507A>G (p.Gln836Arg) rs1554107616
NM_004415.4(DSP):c.250C>G (p.Arg84Gly) rs768521444
NM_004415.4(DSP):c.2511G>C (p.Gln837His) rs2113685122
NM_004415.4(DSP):c.2522A>G (p.Gln841Arg)
NM_004415.4(DSP):c.253G>A (p.Ala85Thr)
NM_004415.4(DSP):c.2543T>C (p.Leu848Pro)
NM_004415.4(DSP):c.2548G>A (p.Asp850Asn) rs1554107626
NM_004415.4(DSP):c.2555A>G (p.Asp852Gly) rs1561693903
NM_004415.4(DSP):c.2564A>T (p.Lys855Met) rs2113685253
NM_004415.4(DSP):c.2567T>C (p.Phe856Ser)
NM_004415.4(DSP):c.2570G>A (p.Gly857Asp)
NM_004415.4(DSP):c.2572G>A (p.Glu858Lys) rs1759209717
NM_004415.4(DSP):c.2575A>G (p.Lys859Glu) rs1759209975
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile) rs1759210367
NM_004415.4(DSP):c.2596C>A (p.Arg866Ser) rs142429411
NM_004415.4(DSP):c.2597G>C (p.Arg866Pro)
NM_004415.4(DSP):c.2597G>T (p.Arg866Leu)
NM_004415.4(DSP):c.2606G>A (p.Arg869Lys)
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu) rs1561693971
NM_004415.4(DSP):c.2611G>A (p.Asp871Asn)
NM_004415.4(DSP):c.2615A>G (p.Lys872Arg)
NM_004415.4(DSP):c.2620A>T (p.Ile874Phe) rs1759212430
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn) rs200338012
NM_004415.4(DSP):c.2626T>A (p.Phe876Ile)
NM_004415.4(DSP):c.2628T>G (p.Phe876Leu)
NM_004415.4(DSP):c.262A>G (p.Ile88Val) rs1581791030
NM_004415.4(DSP):c.2630+3A>C
NM_004415.4(DSP):c.2630+5G>C
NM_004415.4(DSP):c.2630+6C>T
NM_004415.4(DSP):c.2631-13dup rs1455610668
NM_004415.4(DSP):c.2631-14C>G
NM_004415.4(DSP):c.2631-3C>T rs1041054817
NM_004415.4(DSP):c.2631-7C>G
NM_004415.4(DSP):c.2637G>C (p.Trp879Cys)
NM_004415.4(DSP):c.2650C>G (p.Gln884Glu)
NM_004415.4(DSP):c.2665A>G (p.Arg889Gly)
NM_004415.4(DSP):c.2680A>T (p.Asn894Tyr) rs1060500614
NM_004415.4(DSP):c.2695T>C (p.Cys899Arg) rs2113686590
NM_004415.4(DSP):c.2700G>T (p.Lys900Asn)
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys) rs1057519251
NM_004415.4(DSP):c.2704C>T (p.Leu902Phe) rs1443682154
NM_004415.4(DSP):c.270G>C (p.Gln90His)
NM_004415.4(DSP):c.274-8_274-7delinsAT rs1561680554
NM_004415.4(DSP):c.2744T>A (p.Met915Lys) rs750869761
NM_004415.4(DSP):c.2748A>T (p.Lys916Asn)
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro) rs373804924
NM_004415.4(DSP):c.2759C>T (p.Ser920Phe) rs1481929065
NM_004415.4(DSP):c.2765C>G (p.Thr922Arg)
NM_004415.4(DSP):c.2772G>T (p.Met924Ile)
NM_004415.4(DSP):c.2774G>T (p.Arg925Leu)
NM_004415.4(DSP):c.2777T>C (p.Phe926Ser)
NM_004415.4(DSP):c.2789A>C (p.Gln930Pro)
NM_004415.4(DSP):c.2790G>C (p.Gln930His) rs2113686814
NM_004415.4(DSP):c.2793+6A>G
NM_004415.4(DSP):c.2793+6_2793+7insCAAAAAGA
NM_004415.4(DSP):c.279G>C (p.Leu93Phe) rs1447901875
NM_004415.4(DSP):c.2807A>G (p.Glu936Gly)
NM_004415.4(DSP):c.2810T>A (p.Ile937Lys)
NM_004415.4(DSP):c.2818A>G (p.Lys940Glu) rs2113687560
NM_004415.4(DSP):c.2821C>G (p.Arg941Gly) rs730880082
NM_004415.4(DSP):c.2825A>T (p.Asp942Val)
NM_004415.4(DSP):c.2846A>C (p.Lys949Thr)
NM_004415.4(DSP):c.2847A>T (p.Lys949Asn)
NM_004415.4(DSP):c.2848A>T (p.Ile950Phe)
NM_004415.4(DSP):c.284A>T (p.Tyr95Phe)
NM_004415.4(DSP):c.2857C>G (p.Leu953Val)
NM_004415.4(DSP):c.2861G>T (p.Cys954Phe)
NM_004415.4(DSP):c.2863G>A (p.Ala955Thr) rs190421916
NM_004415.4(DSP):c.2867A>G (p.Asn956Ser)
NM_004415.4(DSP):c.286G>A (p.Gly96Arg) rs2113657461
NM_004415.4(DSP):c.2877+6T>A rs1331983690
NM_004415.4(DSP):c.2877+6T>C
NM_004415.4(DSP):c.2879A>G (p.Asp960Gly)
NM_004415.4(DSP):c.2887C>T (p.Leu963Phe) rs779931043
NM_004415.4(DSP):c.2891A>T (p.Gln964Leu)
NM_004415.4(DSP):c.2893C>G (p.Leu965Val) rs1239813518
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro) rs1581813405
NM_004415.4(DSP):c.289G>A (p.Asp97Asn)
NM_004415.4(DSP):c.2906C>A (p.Thr969Asn)
NM_004415.4(DSP):c.2912G>A (p.Gly971Glu)
NM_004415.4(DSP):c.2915T>A (p.Leu972Gln)
NM_004415.4(DSP):c.2917G>C (p.Glu973Gln)
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_004415.4(DSP):c.2936C>G (p.Pro979Arg) rs1759288530
NM_004415.4(DSP):c.293G>C (p.Gly98Ala)
NM_004415.4(DSP):c.2948C>T (p.Thr983Ile) rs1040862892
NM_004415.4(DSP):c.2950A>G (p.Met984Val) rs868110541
NM_004415.4(DSP):c.2952G>A (p.Met984Ile)
NM_004415.4(DSP):c.2963C>T (p.Pro988Leu) rs2113689067
NM_004415.4(DSP):c.297A>G (p.Ile99Met)
NM_004415.4(DSP):c.2986-3A>C
NM_004415.4(DSP):c.2986G>T (p.Ala996Ser) rs1254054471
NM_004415.4(DSP):c.298C>A (p.Gln100Lys)
NM_004415.4(DSP):c.2990C>T (p.Ala997Val)
NM_004415.4(DSP):c.2994T>G (p.Asp998Glu) rs755610951
NM_004415.4(DSP):c.2998C>G (p.His1000Asp)
NM_004415.4(DSP):c.2998C>T (p.His1000Tyr)
NM_004415.4(DSP):c.2998_3012del (p.His1000_Ile1004del)
NM_004415.4(DSP):c.299A>G (p.Gln100Arg)
NM_004415.4(DSP):c.299A>T (p.Gln100Leu)
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln) rs371234425
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro) rs371234425
NM_004415.4(DSP):c.3010A>G (p.Ile1004Val) rs1561696251
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe) rs1018173692
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile) rs1334187363
NM_004415.4(DSP):c.3026G>T (p.Arg1009Ile) rs1759318084
NM_004415.4(DSP):c.3046T>G (p.Phe1016Val) rs1561696335
NM_004415.4(DSP):c.304A>C (p.Thr102Pro)
NM_004415.4(DSP):c.3062T>G (p.Leu1021Arg)
NM_004415.4(DSP):c.3068G>A (p.Ser1023Asn) rs2113690096
NM_004415.4(DSP):c.3070T>G (p.Leu1024Val) rs1474315262
NM_004415.4(DSP):c.3075A>C (p.Glu1025Asp)
NM_004415.4(DSP):c.307C>G (p.Arg103Gly)
NM_004415.4(DSP):c.307C>T (p.Arg103Trp) rs375028675
NM_004415.4(DSP):c.3080T>C (p.Leu1027Pro)
NM_004415.4(DSP):c.3101T>A (p.Ile1034Asn)
NM_004415.4(DSP):c.3102C>G (p.Ile1034Met) rs569974617
NM_004415.4(DSP):c.3103G>A (p.Glu1035Lys) rs760307890
NM_004415.4(DSP):c.3103G>C (p.Glu1035Gln)
NM_004415.4(DSP):c.3120G>C (p.Glu1040Asp)
NM_004415.4(DSP):c.3134G>C (p.Arg1045Pro) rs374263890
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val) rs397516931
NM_004415.4(DSP):c.3144C>G (p.Asn1048Lys)
NM_004415.4(DSP):c.3146C>G (p.Ser1049Trp) rs751361395
NM_004415.4(DSP):c.3157A>G (p.Asn1053Asp)
NM_004415.4(DSP):c.3162_3164del (p.Lys1054del)
NM_004415.4(DSP):c.3163A>G (p.Asn1055Asp)
NM_004415.4(DSP):c.3166A>C (p.Lys1056Gln)
NM_004415.4(DSP):c.3178C>A (p.Gln1060Lys)
NM_004415.4(DSP):c.3184C>A (p.Leu1062Met) rs2113691218
NM_004415.4(DSP):c.3190A>G (p.Lys1064Glu) rs1383448057
NM_004415.4(DSP):c.31A>G (p.Ile11Val)
NM_004415.4(DSP):c.3203A>G (p.Glu1068Gly)
NM_004415.4(DSP):c.3221C>A (p.Ala1074Glu) rs745849763
NM_004415.4(DSP):c.322G>A (p.Asp108Asn)
NM_004415.4(DSP):c.3230C>T (p.Ala1077Val) rs1257696096
NM_004415.4(DSP):c.3238G>A (p.Glu1080Lys) rs1759345464
NM_004415.4(DSP):c.323A>T (p.Asp108Val)
NM_004415.4(DSP):c.3241G>A (p.Glu1081Lys)
NM_004415.4(DSP):c.3242A>T (p.Glu1081Val)
NM_004415.4(DSP):c.3243G>T (p.Glu1081Asp)
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys) rs1561697118
NM_004415.4(DSP):c.3263T>C (p.Leu1088Pro)
NM_004415.4(DSP):c.328T>C (p.Cys110Arg) rs1554105823
NM_004415.4(DSP):c.3296A>G (p.Lys1099Arg)
NM_004415.4(DSP):c.3298T>C (p.Cys1100Arg) rs757539604
NM_004415.4(DSP):c.3298T>G (p.Cys1100Gly) rs757539604
NM_004415.4(DSP):c.3299G>C (p.Cys1100Ser)
NM_004415.4(DSP):c.329G>C (p.Cys110Ser)
NM_004415.4(DSP):c.3304G>C (p.Gly1102Arg)
NM_004415.4(DSP):c.3310A>C (p.Ile1104Leu)
NM_004415.4(DSP):c.3310A>T (p.Ile1104Leu) rs2113691466
NM_004415.4(DSP):c.3312A>G (p.Ile1104Met)
NM_004415.4(DSP):c.3319C>A (p.Leu1107Ile)
NM_004415.4(DSP):c.3319C>T (p.Leu1107Phe) rs1759348638
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys) rs367763339
NM_004415.4(DSP):c.3332T>G (p.Ile1111Ser)
NM_004415.4(DSP):c.3340C>A (p.Leu1114Met)
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile) rs1393151720
NM_004415.4(DSP):c.3346T>C (p.Tyr1116His) rs1581815394
NM_004415.4(DSP):c.3346_3354del (p.Tyr1116_Ile1118del)
NM_004415.4(DSP):c.3347A>T (p.Tyr1116Phe)
NM_004415.4(DSP):c.3351G>T (p.Glu1117Asp)
NM_004415.4(DSP):c.3352A>G (p.Ile1118Val)
NM_004415.4(DSP):c.3368GAA[2] (p.Arg1125del) rs1405952840
NM_004415.4(DSP):c.3371G>A (p.Arg1124Lys)
NM_004415.4(DSP):c.3380C>T (p.Ser1127Phe)
NM_004415.4(DSP):c.3393A>G (p.Arg1131=)
NM_004415.4(DSP):c.3399C>G (p.Asp1133Glu)
NM_004415.4(DSP):c.3401A>C (p.Gln1134Pro) rs2113691687
NM_004415.4(DSP):c.3404A>C (p.Gln1135Pro) rs754250788
NM_004415.4(DSP):c.3408_3409delinsAG (p.Asn1137Asp) rs1759352206
NM_004415.4(DSP):c.3416A>G (p.Tyr1139Cys)
NM_004415.4(DSP):c.3423A>C (p.Gln1141His) rs759288257
NM_004415.4(DSP):c.3424C>T (p.Leu1142=) rs779251147
NM_004415.4(DSP):c.3443G>A (p.Cys1148Tyr)
NM_004415.4(DSP):c.3458T>G (p.Leu1153Arg) rs1554108085
NM_004415.4(DSP):c.3465G>C (p.Trp1155Cys) rs1759354150
NM_004415.4(DSP):c.3469A>C (p.Lys1157Gln) rs1759354483
NM_004415.4(DSP):c.346G>A (p.Asp116Asn)
NM_004415.4(DSP):c.3485A>C (p.Lys1162Thr)
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met) rs1561697488
NM_004415.4(DSP):c.3494A>T (p.Lys1165Met)
NM_004415.4(DSP):c.3497A>G (p.Glu1166Gly) rs2113691892
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del) rs1554108091
NM_004415.4(DSP):c.3501G>A (p.Lys1167=)
NM_004415.4(DSP):c.3504G>T (p.Glu1168Asp) rs1490403808
NM_004415.4(DSP):c.3505T>A (p.Tyr1169Asn) rs2113691917
NM_004415.4(DSP):c.3508G>A (p.Glu1170Lys) rs139582608
NM_004415.4(DSP):c.3508G>C (p.Glu1170Gln)
NM_004415.4(DSP):c.350A>G (p.Gln117Arg)
NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr) rs762449180
NM_004415.4(DSP):c.3518G>T (p.Arg1173Met)
NM_004415.4(DSP):c.3524G>A (p.Arg1175Lys) rs1759357066
NM_004415.4(DSP):c.3526G>A (p.Val1176Ile)
NM_004415.4(DSP):c.3527T>C (p.Val1176Ala) rs1759357469
NM_004415.4(DSP):c.3529C>A (p.Leu1177Ile)
NM_004415.4(DSP):c.3538G>A (p.Glu1180Lys)
NM_004415.4(DSP):c.3541G>A (p.Glu1181Lys)
NM_004415.4(DSP):c.3548C>T (p.Thr1183Ile)
NM_004415.4(DSP):c.3555G>C (p.Lys1185Asn)
NM_004415.4(DSP):c.3559G>A (p.Glu1187Lys) rs1759359375
NM_004415.4(DSP):c.3563A>G (p.Tyr1188Cys)
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys) rs866149042
NM_004415.4(DSP):c.3573G>T (p.Glu1191Asp) rs750659892
NM_004415.4(DSP):c.3574C>G (p.Leu1192Val) rs1554108118
NM_004415.4(DSP):c.3578C>A (p.Ala1193Glu)
NM_004415.4(DSP):c.3592C>T (p.His1198Tyr)
NM_004415.4(DSP):c.3596A>G (p.Tyr1199Cys)
NM_004415.4(DSP):c.35A>G (p.Asn12Ser) rs1239489755
NM_004415.4(DSP):c.3608T>C (p.Met1203Thr)
NM_004415.4(DSP):c.3609G>A (p.Met1203Ile)
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly) rs1759361326
NM_004415.4(DSP):c.3610A>G (p.Ser1204Gly)
NM_004415.4(DSP):c.3616T>G (p.Leu1206Val) rs151115778
NM_004415.4(DSP):c.361C>A (p.Leu121Ile)
NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln) rs1283110287
NM_004415.4(DSP):c.3627G>C (p.Lys1209Asn)
NM_004415.4(DSP):c.3629A>G (p.Tyr1210Cys)
NM_004415.4(DSP):c.3640A>G (p.Ile1214Val)
NM_004415.4(DSP):c.3643A>G (p.Asn1215Asp)
NM_004415.4(DSP):c.3656C>A (p.Thr1219Asn)
NM_004415.4(DSP):c.3671T>C (p.Ile1224Thr)
NM_004415.4(DSP):c.3672A>G (p.Ile1224Met)
NM_004415.4(DSP):c.3673T>C (p.Ser1225Pro)
NM_004415.4(DSP):c.3680A>C (p.Gln1227Pro) rs1458557680
NM_004415.4(DSP):c.3684A>T (p.Lys1228Asn)
NM_004415.4(DSP):c.3685G>A (p.Glu1229Lys)
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup) rs1561697838
NM_004415.4(DSP):c.3691G>A (p.Asp1231Asn)
NM_004415.4(DSP):c.3692A>C (p.Asp1231Ala) rs1581816117
NM_004415.4(DSP):c.3712C>A (p.Gln1238Lys) rs767519046
NM_004415.4(DSP):c.3712C>G (p.Gln1238Glu) rs767519046
NM_004415.4(DSP):c.3716T>C (p.Leu1239Pro)
NM_004415.4(DSP):c.3720T>A (p.Asp1240Glu) rs1759365530
NM_004415.4(DSP):c.372G>C (p.Leu124Phe)
NM_004415.4(DSP):c.3730A>G (p.Arg1244Gly) rs2113692494
NM_004415.4(DSP):c.373A>C (p.Ile125Leu)
NM_004415.4(DSP):c.3742G>C (p.Asp1248His) rs989348634
NM_004415.4(DSP):c.3746T>C (p.Leu1249Pro)
NM_004415.4(DSP):c.374T>A (p.Ile125Asn)
NM_004415.4(DSP):c.3757A>T (p.Ile1253Phe)
NM_004415.4(DSP):c.3760G>T (p.Val1254Phe)
NM_004415.4(DSP):c.3763A>G (p.Arg1255Gly) rs1477870659
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser) rs1561697968
NM_004415.4(DSP):c.3775A>G (p.Ser1259Gly) rs770172294
NM_004415.4(DSP):c.3777C>T (p.Ser1259=)
NM_004415.4(DSP):c.3778A>T (p.Ile1260Phe)
NM_004415.4(DSP):c.3788C>A (p.Ala1263Asp) rs1359308406
NM_004415.4(DSP):c.3788C>T (p.Ala1263Val)
NM_004415.4(DSP):c.3794A>G (p.Glu1265Gly)
NM_004415.4(DSP):c.379G>A (p.Glu127Lys)
NM_004415.4(DSP):c.37A>G (p.Thr13Ala)
NM_004415.4(DSP):c.37_38del (p.Thr13fs)
NM_004415.4(DSP):c.3805C>G (p.Arg1269Gly)
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3811G>A (p.Glu1271Lys) rs2113692719
NM_004415.4(DSP):c.3815A>G (p.Glu1272Gly)
NM_004415.4(DSP):c.3820G>C (p.Ala1274Pro) rs1285435504
NM_004415.4(DSP):c.3820G>T (p.Ala1274Ser) rs1285435504
NM_004415.4(DSP):c.3826C>G (p.Gln1276Glu)
NM_004415.4(DSP):c.3830A>G (p.Gln1277Arg)
NM_004415.4(DSP):c.3842G>A (p.Gly1281Asp) rs757029634
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe) rs778780656
NM_004415.4(DSP):c.3854T>G (p.Met1285Arg) rs1759372184
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn) rs768166626
NM_004415.4(DSP):c.3872T>C (p.Leu1291Pro)
NM_004415.4(DSP):c.3880G>A (p.Glu1294Lys)
NM_004415.4(DSP):c.3896T>C (p.Met1299Thr) rs1432542467
NM_004415.4(DSP):c.3897G>C (p.Met1299Ile) rs2113692906
NM_004415.4(DSP):c.3898C>G (p.Gln1300Glu)
NM_004415.4(DSP):c.389A>G (p.Gln130Arg)
NM_004415.4(DSP):c.3902A>T (p.Gln1301Leu) rs2113692916
NM_004415.4(DSP):c.3913G>A (p.Asp1305Asn)
NM_004415.4(DSP):c.3919G>T (p.Ala1307Ser)
NM_004415.4(DSP):c.3919_3920delinsTT (p.Ala1307Phe)
NM_004415.4(DSP):c.3923G>C (p.Arg1308Pro)
NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu) rs184154918
NM_004415.4(DSP):c.3929A>C (p.Lys1310Thr)
NM_004415.4(DSP):c.3932A>C (p.Gln1311Pro)
NM_004415.4(DSP):c.3934T>C (p.Ser1312Pro)
NM_004415.4(DSP):c.3941A>G (p.Glu1314Gly)
NM_004415.4(DSP):c.3947C>G (p.Ala1316Gly)
NM_004415.4(DSP):c.394G>A (p.Gly132Ser) rs1064796573
NM_004415.4(DSP):c.3953A>G (p.Lys1318Arg)
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser) rs138599871
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.4(DSP):c.3958A>C (p.Ile1320Leu)
NM_004415.4(DSP):c.3958A>G (p.Ile1320Val)
NM_004415.4(DSP):c.3962A>G (p.Gln1321Arg)
NM_004415.4(DSP):c.3964G>A (p.Asp1322Asn) rs1759376700
NM_004415.4(DSP):c.3970A>T (p.Asn1324Tyr)
NM_004415.4(DSP):c.3971A>G (p.Asn1324Ser)
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys) rs746208168
NM_004415.4(DSP):c.3982G>C (p.Glu1328Gln) rs746208168
NM_004415.4(DSP):c.3992A>G (p.Lys1331Arg)
NM_004415.4(DSP):c.3997G>A (p.Glu1333Lys) rs2113693124
NM_004415.4(DSP):c.4002T>G (p.Phe1334Leu) rs1759378577
NM_004415.4(DSP):c.4003C>G (p.Gln1335Glu)
NM_004415.4(DSP):c.4011G>C (p.Glu1337Asp)
NM_004415.4(DSP):c.4013C>A (p.Ala1338Asp) rs2113693177
NM_004415.4(DSP):c.4016A>G (p.Lys1339Arg) rs1759379431
NM_004415.4(DSP):c.4018C>G (p.Arg1340Gly) rs768628788
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys) rs768628788
NM_004415.4(DSP):c.4022G>T (p.Arg1341Leu)
NM_004415.4(DSP):c.4028A>G (p.Glu1343Gly)
NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala) rs201964660
NM_004415.4(DSP):c.4034A>G (p.Glu1345Gly) rs201964660
NM_004415.4(DSP):c.4042C>G (p.Leu1348Val)
NM_004415.4(DSP):c.4055G>A (p.Arg1352Lys) rs757808893
NM_004415.4(DSP):c.4068T>G (p.Asp1356Glu)
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del) rs777457799
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4072G>A (p.Glu1358Lys)
NM_004415.4(DSP):c.4077C>G (p.Ile1359Met)
NM_004415.4(DSP):c.408T>A (p.Asp136Glu)
NM_004415.4(DSP):c.4090A>C (p.Asn1364His)
NM_004415.4(DSP):c.4094A>T (p.Gln1365Leu)
NM_004415.4(DSP):c.4099G>A (p.Glu1367Lys) rs1759383897
NM_004415.4(DSP):c.40C>A (p.Leu14Met)
NM_004415.4(DSP):c.40C>G (p.Leu14Val)
NM_004415.4(DSP):c.4102A>G (p.Thr1368Ala)
NM_004415.4(DSP):c.4107G>C (p.Glu1369Asp)
NM_004415.4(DSP):c.4107G>T (p.Glu1369Asp)
NM_004415.4(DSP):c.4107_4108delinsTG (p.Glu1369_Ile1370delinsAspVal) rs1759384287
NM_004415.4(DSP):c.4108A>G (p.Ile1370Val)
NM_004415.4(DSP):c.4109T>A (p.Ile1370Asn) rs1759384359
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn) rs1215591946
NM_004415.4(DSP):c.4145T>C (p.Met1382Thr)
NM_004415.4(DSP):c.4153G>A (p.Glu1385Lys)
NM_004415.4(DSP):c.4156G>A (p.Glu1386Lys) rs397516935
NM_004415.4(DSP):c.4163C>A (p.Thr1388Asn)
NM_004415.4(DSP):c.416A>T (p.Gln139Leu) rs1385183881
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser) rs727504547
NM_004415.4(DSP):c.4177G>A (p.Ala1393Thr)
NM_004415.4(DSP):c.4184T>C (p.Ile1395Thr)
NM_004415.4(DSP):c.418A>G (p.Lys140Glu)
NM_004415.4(DSP):c.4190A>G (p.Asn1397Ser)
NM_004415.4(DSP):c.4191T>A (p.Asn1397Lys)
NM_004415.4(DSP):c.4195A>G (p.Thr1399Ala) rs1561698547
NM_004415.4(DSP):c.4196C>T (p.Thr1399Ile)
NM_004415.4(DSP):c.4198C>G (p.Arg1400Gly)
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val) rs1759389046
NM_004415.4(DSP):c.4204A>G (p.Asn1402Asp)
NM_004415.4(DSP):c.4211G>A (p.Ser1404Asn) rs1759389281
NM_004415.4(DSP):c.4216T>C (p.Ser1406Pro)
NM_004415.4(DSP):c.422+3A>G rs1758564707
NM_004415.4(DSP):c.4225A>G (p.Ile1409Val)
NM_004415.4(DSP):c.4226_4228del (p.Ile1409del) rs746639284
NM_004415.4(DSP):c.422G>A (p.Arg141Lys)
NM_004415.4(DSP):c.422G>C (p.Arg141Thr) rs969373062
NM_004415.4(DSP):c.423-6T>G
NM_004415.4(DSP):c.423-9del
NM_004415.4(DSP):c.4233G>T (p.Arg1411Ser) rs771721410
NM_004415.4(DSP):c.4237A>G (p.Lys1413Glu)
NM_004415.4(DSP):c.423G>T (p.Arg141Ser)
NM_004415.4(DSP):c.4252C>G (p.Gln1418Glu)
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys) rs769965019
NM_004415.4(DSP):c.4267C>A (p.Leu1423Ile)
NM_004415.4(DSP):c.4276G>A (p.Val1426Met) rs1759393186
NM_004415.4(DSP):c.4279G>A (p.Glu1427Lys)
NM_004415.4(DSP):c.4283A>G (p.Glu1428Gly)
NM_004415.4(DSP):c.4289T>C (p.Ile1430Thr)
NM_004415.4(DSP):c.428T>C (p.Leu143Pro) rs746545985
NM_004415.4(DSP):c.4293A>T (p.Gln1431His)
NM_004415.4(DSP):c.4295A>C (p.Gln1432Pro) rs2113693777
NM_004415.4(DSP):c.4304C>T (p.Ala1435Val) rs1164622831
NM_004415.4(DSP):c.4332A>C (p.Lys1444Asn) rs1374798133
NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg)
NM_004415.4(DSP):c.4348G>A (p.Glu1450Lys)
NM_004415.4(DSP):c.4351C>G (p.Leu1451Val)
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro) rs1554108296
NM_004415.4(DSP):c.4355G>A (p.Arg1452Lys)
NM_004415.4(DSP):c.4355G>T (p.Arg1452Ile)
NM_004415.4(DSP):c.4360G>A (p.Val1454Ile)
NM_004415.4(DSP):c.4363A>C (p.Thr1455Pro)
NM_004415.4(DSP):c.4364C>G (p.Thr1455Ser)
NM_004415.4(DSP):c.4369A>T (p.Met1457Leu)
NM_004415.4(DSP):c.4371G>C (p.Met1457Ile) rs1169630255
NM_004415.4(DSP):c.4373G>T (p.Arg1458Leu) rs370063434
NM_004415.4(DSP):c.4375A>G (p.Thr1459Ala)
NM_004415.4(DSP):c.4376C>G (p.Thr1459Arg)
NM_004415.4(DSP):c.4379A>G (p.Glu1460Gly) rs1759396646
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.4396A>G (p.Lys1466Glu) rs1561698838
NM_004415.4(DSP):c.439G>C (p.Glu147Gln)
NM_004415.4(DSP):c.4408G>A (p.Asp1470Asn)
NM_004415.4(DSP):c.4409A>G (p.Asp1470Gly)
NM_004415.4(DSP):c.4414G>A (p.Ala1472Thr)
NM_004415.4(DSP):c.4415C>A (p.Ala1472Asp) rs1272181488
NM_004415.4(DSP):c.4415C>T (p.Ala1472Val)
NM_004415.4(DSP):c.441G>C (p.Glu147Asp)
NM_004415.4(DSP):c.4424C>T (p.Thr1475Ile)
NM_004415.4(DSP):c.4426A>G (p.Ile1476Val)
NM_004415.4(DSP):c.4445A>C (p.Glu1482Ala)
NM_004415.4(DSP):c.4447A>G (p.Ile1483Val)
NM_004415.4(DSP):c.4449A>G (p.Ile1483Met) rs1308817559
NM_004415.4(DSP):c.4451A>G (p.Glu1484Gly)
NM_004415.4(DSP):c.445A>T (p.Met149Leu)
NM_004415.4(DSP):c.4468A>G (p.Ile1490Val)
NM_004415.4(DSP):c.4471G>C (p.Asp1491His)
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly) rs397516938
NM_004415.4(DSP):c.4487A>T (p.Asp1496Val)
NM_004415.4(DSP):c.4490G>C (p.Arg1497Pro)
NM_004415.4(DSP):c.4499T>C (p.Leu1500Pro)
NM_004415.4(DSP):c.449G>T (p.Arg150Leu)
NM_004415.4(DSP):c.44G>A (p.Gly15Asp) rs1265161836
NM_004415.4(DSP):c.4501G>A (p.Glu1501Lys)
NM_004415.4(DSP):c.4502A>G (p.Glu1501Gly) rs1759403946
NM_004415.4(DSP):c.4514C>A (p.Ala1505Glu)
NM_004415.4(DSP):c.4521A>T (p.Leu1507Phe) rs1060500611
NM_004415.4(DSP):c.4523A>G (p.Gln1508Arg) rs1759404972
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4532A>G (p.Gln1511Arg)
NM_004415.4(DSP):c.4533G>C (p.Gln1511His) rs2113694339
NM_004415.4(DSP):c.4534T>G (p.Tyr1512Asp)
NM_004415.4(DSP):c.4539C>A (p.Asp1513Glu) rs1759406088
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro) rs1173680775
NM_004415.4(DSP):c.4552A>G (p.Asn1518Asp)
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly) rs780953141
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys) rs780953141
NM_004415.4(DSP):c.4564A>T (p.Thr1522Ser) rs1759406838
NM_004415.4(DSP):c.4571C>A (p.Thr1524Lys) rs397516941
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4583T>C (p.Leu1528Pro)
NM_004415.4(DSP):c.4588G>C (p.Val1530Leu)
NM_004415.4(DSP):c.458A>G (p.Tyr153Cys) rs1758601898
NM_004415.4(DSP):c.4593G>C (p.Gln1531His)
NM_004415.4(DSP):c.4595A>G (p.Glu1532Gly) rs1759408509
NM_004415.4(DSP):c.4600G>C (p.Glu1534Gln)
NM_004415.4(DSP):c.4625A>C (p.Tyr1542Ser)
NM_004415.4(DSP):c.4628A>G (p.Glu1543Gly)
NM_004415.4(DSP):c.4629A>C (p.Glu1543Asp) rs1759410036
NM_004415.4(DSP):c.4632G>T (p.Arg1544Ser)
NM_004415.4(DSP):c.4636T>C (p.Ser1546Pro) rs1280704171
NM_004415.4(DSP):c.4647G>C (p.Arg1549Ser) rs2113694603
NM_004415.4(DSP):c.4648A>G (p.Thr1550Ala) rs375917565
NM_004415.4(DSP):c.4649C>G (p.Thr1550Ser) rs928167721
NM_004415.4(DSP):c.466A>C (p.Ile156Leu)
NM_004415.4(DSP):c.466A>G (p.Ile156Val)
NM_004415.4(DSP):c.4672C>T (p.Arg1558Trp)
NM_004415.4(DSP):c.4673G>A (p.Arg1558Gln)
NM_004415.4(DSP):c.4677C>G (p.Phe1559Leu)
NM_004415.4(DSP):c.4678C>G (p.Gln1560Glu)
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4683C>A (p.Asn1561Lys)
NM_004415.4(DSP):c.4683C>G (p.Asn1561Lys)
NM_004415.4(DSP):c.4685C>G (p.Ser1562Cys)
NM_004415.4(DSP):c.468C>T (p.Ile156=)
NM_004415.4(DSP):c.4696CTGCAG[1] (p.1566LQ[1]) rs1379223945
NM_004415.4(DSP):c.469A>T (p.Ser157Cys)
NM_004415.4(DSP):c.4712A>C (p.Gln1571Pro)
NM_004415.4(DSP):c.4717G>A (p.Val1573Met) rs370171270
NM_004415.4(DSP):c.4723G>A (p.Glu1575Lys) rs727503002
NM_004415.4(DSP):c.472G>A (p.Val158Ile)
NM_004415.4(DSP):c.4745G>T (p.Arg1582Met)
NM_004415.4(DSP):c.4750G>T (p.Ala1584Ser) rs191778417
NM_004415.4(DSP):c.4751C>T (p.Ala1584Val)
NM_004415.4(DSP):c.475C>T (p.Pro159Ser) rs1758602932
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del) rs1010996982
NM_004415.4(DSP):c.4766G>T (p.Cys1589Phe)
NM_004415.4(DSP):c.4769A>G (p.Lys1590Arg) rs2113694864
NM_004415.4(DSP):c.476C>G (p.Pro159Arg)
NM_004415.4(DSP):c.4780C>G (p.Leu1594Val) rs149463707
NM_004415.4(DSP):c.4783G>C (p.Glu1595Gln)
NM_004415.4(DSP):c.4786G>A (p.Glu1596Lys)
NM_004415.4(DSP):c.4787A>G (p.Glu1596Gly) rs2113694907
NM_004415.4(DSP):c.4792C>A (p.Leu1598Met)
NM_004415.4(DSP):c.47G>A (p.Arg16His) rs752387234
NM_004415.4(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.4(DSP):c.4801A>G (p.Met1601Val)
NM_004415.4(DSP):c.4807A>T (p.Arg1603Trp)
NM_004415.4(DSP):c.4818G>T (p.Lys1606Asn)
NM_004415.4(DSP):c.4820A>G (p.Glu1607Gly) rs1364445729
NM_004415.4(DSP):c.4826C>A (p.Ala1609Asp)
NM_004415.4(DSP):c.4826C>T (p.Ala1609Val)
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr) rs1581818435
NM_004415.4(DSP):c.4837A>T (p.Thr1613Ser)
NM_004415.4(DSP):c.4840A>G (p.Asn1614Asp)
NM_004415.4(DSP):c.4847C>T (p.Thr1616Ile) rs1759419853
NM_004415.4(DSP):c.484C>G (p.Arg162Gly) rs760711308
NM_004415.4(DSP):c.4856T>C (p.Leu1619Pro)
NM_004415.4(DSP):c.4857G>C (p.Leu1619=) rs373385083
NM_004415.4(DSP):c.485G>A (p.Arg162His) rs397516944
NM_004415.4(DSP):c.4864G>T (p.Ala1622Ser)
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys) rs908086952
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
NM_004415.4(DSP):c.4886G>A (p.Ser1629Asn)
NM_004415.4(DSP):c.4888G>A (p.Glu1630Lys) rs2113695154
NM_004415.4(DSP):c.4893T>G (p.Asp1631Glu) rs775633446
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn) rs747279731
NM_004415.4(DSP):c.4897C>T (p.Leu1633Phe)
NM_004415.4(DSP):c.4898_4900del (p.Leu1633del)
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp) rs973569441
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu) rs144106775
NM_004415.4(DSP):c.4908G>C (p.Gln1636His)
NM_004415.4(DSP):c.4912G>A (p.Asp1638Asn) rs2113695205
NM_004415.4(DSP):c.4916T>C (p.Val1639Ala)
NM_004415.4(DSP):c.4946G>A (p.Arg1649Lys) rs2113695278
NM_004415.4(DSP):c.4946G>T (p.Arg1649Met)
NM_004415.4(DSP):c.4948A>G (p.Thr1650Ala) rs2113695282
NM_004415.4(DSP):c.494G>A (p.Ser165Asn)
NM_004415.4(DSP):c.4954G>C (p.Glu1652Gln) rs267601119
NM_004415.4(DSP):c.4958A>G (p.Glu1653Gly)
NM_004415.4(DSP):c.4969C>T (p.Leu1657Phe)
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.497C>T (p.Ser166Phe) rs1060500620
NM_004415.4(DSP):c.4984G>A (p.Glu1662Lys)
NM_004415.4(DSP):c.4986G>C (p.Glu1662Asp)
NM_004415.4(DSP):c.4994G>A (p.Arg1665Lys)
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr) rs1290867734
NM_004415.4(DSP):c.4999C>A (p.Gln1667Lys)
NM_004415.4(DSP):c.5006T>C (p.Leu1669Pro) rs776712810
NM_004415.4(DSP):c.5017G>A (p.Glu1673Lys)
NM_004415.4(DSP):c.502G>A (p.Gly168Ser) rs1308747530
NM_004415.4(DSP):c.5037C>G (p.His1679Gln)
NM_004415.4(DSP):c.505G>A (p.Gly169Ser) rs1184706017
NM_004415.4(DSP):c.505G>T (p.Gly169Cys)
NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn) rs754404501
NM_004415.4(DSP):c.5065A>C (p.Ile1689Leu) rs1043797322
NM_004415.4(DSP):c.506G>A (p.Gly169Asp) rs1758605175
NM_004415.4(DSP):c.5075_5080del (p.Lys1692_Ser1693del)
NM_004415.4(DSP):c.5090A>T (p.Asn1697Ile) rs2113695564
NM_004415.4(DSP):c.5093A>G (p.Glu1698Gly)
NM_004415.4(DSP):c.5095A>C (p.Ser1699Arg)
NM_004415.4(DSP):c.50T>C (p.Met17Thr) rs559248100
NM_004415.4(DSP):c.5101A>G (p.Ile1701Val) rs794728154
NM_004415.4(DSP):c.5107A>G (p.Ile1703Val) rs868035157
NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn) rs794728123
NM_004415.4(DSP):c.5110G>A (p.Glu1704Lys) rs1312263432
NM_004415.4(DSP):c.5120A>G (p.Gln1707Arg)
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys) rs372452104
NM_004415.4(DSP):c.5125C>T (p.Leu1709Phe) rs1759432908
NM_004415.4(DSP):c.512G>A (p.Gly171Asp)
NM_004415.4(DSP):c.512G>T (p.Gly171Val)
NM_004415.4(DSP):c.512_513delinsAA (p.Gly171Glu) rs1758605814
NM_004415.4(DSP):c.5135A>T (p.Asn1712Ile) rs1759433132
NM_004415.4(DSP):c.514T>C (p.Tyr172His)
NM_004415.4(DSP):c.5156T>C (p.Met1719Thr)
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5171T>C (p.Leu1724Pro) rs2113695726
NM_004415.4(DSP):c.5174G>A (p.Arg1725Gln) rs1759434677
NM_004415.4(DSP):c.5188G>A (p.Glu1730Lys) rs794727382
NM_004415.4(DSP):c.5191T>A (p.Tyr1731Asn)
NM_004415.4(DSP):c.5209G>A (p.Gly1737Arg)
NM_004415.4(DSP):c.5212C>G (p.Arg1738Gly) rs794728124
NM_004415.4(DSP):c.5225A>G (p.Asp1742Gly)
NM_004415.4(DSP):c.5227A>G (p.Ser1743Gly) rs1759437499
NM_004415.4(DSP):c.5228G>A (p.Ser1743Asn)
NM_004415.4(DSP):c.5234A>C (p.Lys1745Thr)
NM_004415.4(DSP):c.5245A>G (p.Ile1749Val) rs1279085997
NM_004415.4(DSP):c.5249T>G (p.Leu1750Trp) rs1759438511
NM_004415.4(DSP):c.526A>G (p.Ser176Gly) rs1426245453
NM_004415.4(DSP):c.5280C>A (p.Asn1760Lys)
NM_004415.4(DSP):c.5283C>A (p.Asn1761Lys) rs763355815
NM_004415.4(DSP):c.5291T>A (p.Leu1764Gln) rs767885673
NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro) rs767885673
NM_004415.4(DSP):c.52A>C (p.Ile18Leu)
NM_004415.4(DSP):c.5302G>A (p.Gly1768Arg)
NM_004415.4(DSP):c.5303G>T (p.Gly1768Val) rs2113696049
NM_004415.4(DSP):c.5305C>A (p.Leu1769Met) rs946445410
NM_004415.4(DSP):c.5308A>G (p.Ile1770Val) rs2113696065
NM_004415.4(DSP):c.5309T>C (p.Ile1770Thr)
NM_004415.4(DSP):c.5313T>G (p.Asn1771Lys)
NM_004415.4(DSP):c.5318T>C (p.Leu1773Ser) rs2113696090
NM_004415.4(DSP):c.5322G>C (p.Gln1774His)
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.5339T>G (p.Leu1780Trp)
NM_004415.4(DSP):c.5342G>T (p.Arg1781Ile)
NM_004415.4(DSP):c.5358A>C (p.Lys1786Asn)
NM_004415.4(DSP):c.535G>A (p.Gly179Ser) rs774829433
NM_004415.4(DSP):c.5363A>C (p.Gln1788Pro) rs139673146
NM_004415.4(DSP):c.5371G>A (p.Ala1791Thr) rs2113696199
NM_004415.4(DSP):c.5377G>C (p.Glu1793Gln)
NM_004415.4(DSP):c.5379+4T>C
NM_004415.4(DSP):c.5380-12C>A
NM_004415.4(DSP):c.5380-1G>C rs1759474600
NM_004415.4(DSP):c.5380-20_5380-13del
NM_004415.4(DSP):c.5380-4C>G rs756405593
NM_004415.4(DSP):c.5384C>A (p.Ser1795Tyr)
NM_004415.4(DSP):c.5399A>G (p.Glu1800Gly)
NM_004415.4(DSP):c.53T>A (p.Ile18Asn)
NM_004415.4(DSP):c.5413T>C (p.Cys1805Arg) rs746731287
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe) rs768161038
NM_004415.4(DSP):c.5439G>C (p.Glu1813Asp) rs1759477469
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.5442C>A (p.Ser1814Arg) rs2113697874
NM_004415.4(DSP):c.5475C>A (p.Asp1825Glu)
NM_004415.4(DSP):c.5479G>A (p.Ala1827Thr) rs747643627
NM_004415.4(DSP):c.5483G>C (p.Arg1828Thr)
NM_004415.4(DSP):c.5484G>C (p.Arg1828Ser)
NM_004415.4(DSP):c.5489A>T (p.Gln1830Leu)
NM_004415.4(DSP):c.54C>G (p.Ile18Met)
NM_004415.4(DSP):c.5512C>T (p.Arg1838Cys) rs756481791
NM_004415.4(DSP):c.5513G>T (p.Arg1838Leu) rs377715841
NM_004415.4(DSP):c.5516C>T (p.Ala1839Val)
NM_004415.4(DSP):c.5521T>C (p.Ser1841Pro)
NM_004415.4(DSP):c.5528T>C (p.Leu1843Pro)
NM_004415.4(DSP):c.5538A>C (p.Glu1846Asp)
NM_004415.4(DSP):c.5542A>C (p.Arg1848=)
NM_004415.4(DSP):c.5542A>G (p.Arg1848Gly) rs886038805
NM_004415.4(DSP):c.5548A>C (p.Lys1850Gln)
NM_004415.4(DSP):c.5554C>A (p.Arg1852Ser)
NM_004415.4(DSP):c.5555G>T (p.Arg1852Leu)
NM_004415.4(DSP):c.5560G>C (p.Glu1854Gln)
NM_004415.4(DSP):c.5563T>C (p.Cys1855Arg) rs1453126950
NM_004415.4(DSP):c.557A>G (p.His186Arg) rs1033990351
NM_004415.4(DSP):c.557A>T (p.His186Leu) rs1033990351
NM_004415.4(DSP):c.5584A>G (p.Asn1862Asp)
NM_004415.4(DSP):c.5584A>T (p.Asn1862Tyr) rs2113698216
NM_004415.4(DSP):c.5587G>A (p.Asp1863Asn)
NM_004415.4(DSP):c.5590C>A (p.Leu1864Met)
NM_004415.4(DSP):c.55C>G (p.Arg19Gly)
NM_004415.4(DSP):c.55C>T (p.Arg19Cys) rs777340009
NM_004415.4(DSP):c.5602A>C (p.Lys1868Gln)
NM_004415.4(DSP):c.5609A>G (p.Gln1870Arg)
NM_004415.4(DSP):c.5618G>T (p.Arg1873Leu) rs776088292
NM_004415.4(DSP):c.5620A>G (p.Lys1874Glu)
NM_004415.4(DSP):c.5629G>A (p.Ala1877Thr)
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr) rs1581820615
NM_004415.4(DSP):c.5635A>G (p.Arg1879Gly) rs1759488201
NM_004415.4(DSP):c.5638A>C (p.Lys1880Gln)
NM_004415.4(DSP):c.5642T>C (p.Ile1881Thr) rs1192963820
NM_004415.4(DSP):c.5659A>G (p.Lys1887Glu)
NM_004415.4(DSP):c.5661G>C (p.Lys1887Asn)
NM_004415.4(DSP):c.5663G>A (p.Ser1888Asn)
NM_004415.4(DSP):c.5664T>A (p.Ser1888Arg)
NM_004415.4(DSP):c.5669G>C (p.Arg1890Thr)
NM_004415.4(DSP):c.5673GAA[1] (p.Lys1892del)
NM_004415.4(DSP):c.5674A>G (p.Lys1892Glu)
NM_004415.4(DSP):c.5675A>C (p.Lys1892Thr)
NM_004415.4(DSP):c.5678A>G (p.Asn1893Ser) rs2113698496
NM_004415.4(DSP):c.5680A>C (p.Ser1894Arg)
NM_004415.4(DSP):c.5681G>C (p.Ser1894Thr)
NM_004415.4(DSP):c.5683C>G (p.Leu1895Val) rs1159494439
NM_004415.4(DSP):c.5687G>C (p.Arg1896Thr)
NM_004415.4(DSP):c.5688_5690del (p.Arg1896del) rs1561701244
NM_004415.4(DSP):c.568G>A (p.Glu190Lys) rs1758608184
NM_004415.4(DSP):c.5692G>C (p.Glu1898Gln)
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
NM_004415.4(DSP):c.56G>A (p.Arg19His) rs1757992558
NM_004415.4(DSP):c.5711C>T (p.Ala1904Val) rs1473162721
NM_004415.4(DSP):c.5721G>C (p.Lys1907Asn)
NM_004415.4(DSP):c.572G>A (p.Cys191Tyr)
NM_004415.4(DSP):c.5733G>A (p.Glu1911=)
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser) rs371873840
NM_004415.4(DSP):c.5738G>C (p.Cys1913Ser) rs755250746
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys) rs1461028383
NM_004415.4(DSP):c.5765G>A (p.Arg1922Lys) rs1235630592
NM_004415.4(DSP):c.5767G>C (p.Glu1923Gln) rs397516948
NM_004415.4(DSP):c.576G>T (p.Leu192Phe) rs1758608540
NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)
NM_004415.4(DSP):c.5788_5793del (p.Thr1930_Glu1931del)
NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg) rs794728126
NM_004415.4(DSP):c.578G>A (p.Gly193Glu)
NM_004415.4(DSP):c.5801G>A (p.Arg1934Gln)
NM_004415.4(DSP):c.5801G>T (p.Arg1934Leu)
NM_004415.4(DSP):c.5808G>C (p.Gln1936His)
NM_004415.4(DSP):c.5812G>C (p.Glu1938Gln)
NM_004415.4(DSP):c.5819A>T (p.Asp1940Val) rs1430290356
NM_004415.4(DSP):c.5821A>G (p.Lys1941Glu) rs794728127
NM_004415.4(DSP):c.5828G>T (p.Arg1943Ile)
NM_004415.4(DSP):c.5837C>T (p.Pro1946Leu)
NM_004415.4(DSP):c.583A>G (p.Met195Val)
NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)
NM_004415.4(DSP):c.5869T>C (p.Cys1957Arg) rs2113698961
NM_004415.4(DSP):c.5874G>C (p.Glu1958Asp)
NM_004415.4(DSP):c.587G>A (p.Arg196Lys)
NM_004415.4(DSP):c.5882T>C (p.Val1961Ala)
NM_004415.4(DSP):c.5884G>A (p.Asp1962Asn)
NM_004415.4(DSP):c.5887A>G (p.Thr1963Ala)
NM_004415.4(DSP):c.5896C>G (p.Leu1966Val) rs1554108700
NM_004415.4(DSP):c.5918A>G (p.Lys1973Arg) rs376397314
NM_004415.4(DSP):c.5920A>G (p.Lys1974Glu) rs1561701683
NM_004415.4(DSP):c.5922G>C (p.Lys1974Asn) rs193059393
NM_004415.4(DSP):c.5924T>C (p.Val1975Ala) rs1759505693
NM_004415.4(DSP):c.5927C>T (p.Thr1976Ile)
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr) rs1322656621
NM_004415.4(DSP):c.5942A>G (p.Tyr1981Cys) rs1085307622
NM_004415.4(DSP):c.5961C>G (p.Asp1987Glu)
NM_004415.4(DSP):c.5969C>T (p.Thr1990Ile)
NM_004415.4(DSP):c.596G>T (p.Arg199Met)
NM_004415.4(DSP):c.597+2_597+5dup rs765558005
NM_004415.4(DSP):c.597+4A>C
NM_004415.4(DSP):c.5972T>C (p.Leu1991Ser)
NM_004415.4(DSP):c.5974G>A (p.Asp1992Asn)
NM_004415.4(DSP):c.5978A>G (p.Lys1993Arg) rs1561701766
NM_004415.4(DSP):c.5G>C (p.Ser2Thr)
NM_004415.4(DSP):c.6007G>A (p.Glu2003Lys)
NM_004415.4(DSP):c.6010G>C (p.Val2004Leu)
NM_004415.4(DSP):c.6011T>C (p.Val2004Ala) rs1759511205
NM_004415.4(DSP):c.6013G>A (p.Ala2005Thr)
NM_004415.4(DSP):c.6013G>C (p.Ala2005Pro)
NM_004415.4(DSP):c.6037C>T (p.Arg2013Trp)
NM_004415.4(DSP):c.6038G>C (p.Arg2013Pro) rs557263443
NM_004415.4(DSP):c.6041G>C (p.Gly2014Ala) rs1470983327
NM_004415.4(DSP):c.6046G>A (p.Gly2016Arg) rs1759513408
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr) rs771974957
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser) rs771974957
NM_004415.4(DSP):c.6058G>A (p.Gly2020Arg)
NM_004415.4(DSP):c.6062C>A (p.Ala2021Glu)
NM_004415.4(DSP):c.6067G>C (p.Ala2023Pro) rs776533737
NM_004415.4(DSP):c.6067G>T (p.Ala2023Ser) rs776533737
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser) rs1759514545
NM_004415.4(DSP):c.6079G>A (p.Glu2027Lys)
NM_004415.4(DSP):c.6085T>A (p.Tyr2029Asn)
NM_004415.4(DSP):c.6088T>C (p.Ser2030Pro) rs1759514959
NM_004415.4(DSP):c.6089C>A (p.Ser2030Tyr) rs867842357
NM_004415.4(DSP):c.6104A>C (p.Lys2035Thr)
NM_004415.4(DSP):c.6106A>G (p.Arg2036Gly) rs2113699558
NM_004415.4(DSP):c.6118A>G (p.Ile2040Val)
NM_004415.4(DSP):c.612G>C (p.Met204Ile) rs1021314728
NM_004415.4(DSP):c.612G>T (p.Met204Ile)
NM_004415.4(DSP):c.6134C>G (p.Thr2045Arg) rs1759516546
NM_004415.4(DSP):c.6136G>A (p.Val2046Ile)
NM_004415.4(DSP):c.6146T>G (p.Leu2049Arg) rs1759516965
NM_004415.4(DSP):c.6149A>C (p.Glu2050Ala)
NM_004415.4(DSP):c.6151G>A (p.Ala2051Thr)
NM_004415.4(DSP):c.6154C>T (p.Gln2052Ter)
NM_004415.4(DSP):c.6160G>A (p.Ala2054Thr) rs1759517531
NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg) rs780274878
NM_004415.4(DSP):c.616G>A (p.Ala206Thr) rs794728109
NM_004415.4(DSP):c.6176T>C (p.Ile2059Thr)
NM_004415.4(DSP):c.6179A>T (p.Asp2060Val)
NM_004415.4(DSP):c.6180T>A (p.Asp2060Glu)
NM_004415.4(DSP):c.6181C>G (p.Pro2061Ala) rs1561702055
NM_004415.4(DSP):c.6181C>T (p.Pro2061Ser) rs1561702055
NM_004415.4(DSP):c.6185A>G (p.His2062Arg) rs730880086
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp) rs374090050
NM_004415.4(DSP):c.6203C>G (p.Thr2068Ser)
NM_004415.4(DSP):c.6208G>C (p.Asp2070His)
NM_004415.4(DSP):c.620G>C (p.Trp207Ser) rs1445705079
NM_004415.4(DSP):c.6214G>A (p.Ala2072Thr) rs1759520180
NM_004415.4(DSP):c.6219A>G (p.Ile2073Met)
NM_004415.4(DSP):c.6224G>T (p.Arg2075Leu)
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly) rs370093129
NM_004415.4(DSP):c.6257T>C (p.Ile2086Thr)
NM_004415.4(DSP):c.6271A>G (p.Lys2091Glu)
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val) rs876657796
NM_004415.4(DSP):c.6278T>C (p.Ile2093Thr)
NM_004415.4(DSP):c.6281C>G (p.Thr2094Ser)
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.6299T>C (p.Phe2100Ser)
NM_004415.4(DSP):c.631C>G (p.Leu211Val)
NM_004415.4(DSP):c.6320T>C (p.Val2107Ala)
NM_004415.4(DSP):c.6328G>T (p.Ala2110Ser)
NM_004415.4(DSP):c.6333C>G (p.Ile2111Met)
NM_004415.4(DSP):c.6335A>G (p.Lys2112Arg)
NM_004415.4(DSP):c.6343T>G (p.Leu2115Val) rs1484456213
NM_004415.4(DSP):c.6351T>A (p.Asp2117Glu)
NM_004415.4(DSP):c.6352A>G (p.Arg2118Gly) rs1311515571
NM_004415.4(DSP):c.6353G>C (p.Arg2118Thr)
NM_004415.4(DSP):c.6361G>A (p.Gly2121Arg) rs368227724
NM_004415.4(DSP):c.6364A>G (p.Met2122Val)
NM_004415.4(DSP):c.6367C>A (p.Arg2123Ser)
NM_004415.4(DSP):c.6392C>T (p.Ser2131Leu)
NM_004415.4(DSP):c.63G>T (p.Glu21Asp)
NM_004415.4(DSP):c.6409C>A (p.Pro2137Thr) rs2113700303
NM_004415.4(DSP):c.6410C>T (p.Pro2137Leu)
NM_004415.4(DSP):c.6421G>A (p.Val2141Ile)
NM_004415.4(DSP):c.6422T>G (p.Val2141Gly) rs1759532262
NM_004415.4(DSP):c.6442G>C (p.Ala2148Pro)
NM_004415.4(DSP):c.6454G>A (p.Gly2152Arg)
NM_004415.4(DSP):c.6454G>C (p.Gly2152Arg)
NM_004415.4(DSP):c.6455G>A (p.Gly2152Glu)
NM_004415.4(DSP):c.645G>C (p.Glu215Asp)
NM_004415.4(DSP):c.6460A>G (p.Ile2154Val)
NM_004415.4(DSP):c.6461T>C (p.Ile2154Thr) rs2113700418
NM_004415.4(DSP):c.6470A>G (p.Asp2157Gly) rs2113700447
NM_004415.4(DSP):c.6475T>C (p.Tyr2159His)
NM_004415.4(DSP):c.6479G>C (p.Arg2160Pro) rs146642551
NM_004415.4(DSP):c.6479G>T (p.Arg2160Leu)
NM_004415.4(DSP):c.647A>C (p.Gln216Pro) rs1758736357
NM_004415.4(DSP):c.6485T>C (p.Leu2162Pro)
NM_004415.4(DSP):c.6494C>T (p.Pro2165Leu) rs1759535966
NM_004415.4(DSP):c.64T>C (p.Ser22Pro) rs2113628752
NM_004415.4(DSP):c.6505C>G (p.Gln2169Glu) rs1561702645
NM_004415.4(DSP):c.6512A>C (p.Asn2171Thr)
NM_004415.4(DSP):c.6513C>T (p.Asn2171=)
NM_004415.4(DSP):c.6517G>A (p.Val2173Met)
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.4(DSP):c.6526G>C (p.Val2176Leu) rs746533703
NM_004415.4(DSP):c.652A>G (p.Ile218Val) rs987363401
NM_004415.4(DSP):c.652A>T (p.Ile218Phe)
NM_004415.4(DSP):c.6530C>A (p.Thr2177Asn)
NM_004415.4(DSP):c.6535AAG[1] (p.Lys2180del) rs761044651
NM_004415.4(DSP):c.6545G>T (p.Ser2182Ile)
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His) rs763549172
NM_004415.4(DSP):c.6550G>C (p.Val2184Leu)
NM_004415.4(DSP):c.6551T>A (p.Val2184Glu)
NM_004415.4(DSP):c.6554A>C (p.Gln2185Pro)
NM_004415.4(DSP):c.6565C>G (p.Arg2189Gly)
NM_004415.4(DSP):c.6569G>T (p.Cys2190Phe) rs1276738564
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys) rs527888978
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.4(DSP):c.6583C>T (p.His2195Tyr)
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala) rs2113700741
NM_004415.4(DSP):c.6589G>T (p.Gly2197Cys)
NM_004415.4(DSP):c.6595C>G (p.Leu2199Val)
NM_004415.4(DSP):c.65C>G (p.Ser22Cys)
NM_004415.4(DSP):c.6606A>G (p.Ser2202=)
NM_004415.4(DSP):c.6614A>G (p.Lys2205Arg)
NM_004415.4(DSP):c.661C>T (p.His221Tyr)
NM_004415.4(DSP):c.6620G>C (p.Ser2207Thr)
NM_004415.4(DSP):c.663C>G (p.His221Gln) rs1561683654
NM_004415.4(DSP):c.6646C>T (p.Pro2216Ser)
NM_004415.4(DSP):c.6658A>G (p.Thr2220Ala)
NM_004415.4(DSP):c.665G>C (p.Arg222Pro) rs377749481
NM_004415.4(DSP):c.665G>T (p.Arg222Leu)
NM_004415.4(DSP):c.6667G>A (p.Val2223Ile)
NM_004415.4(DSP):c.6695C>T (p.Thr2232Ile)
NM_004415.4(DSP):c.6701A>T (p.Asn2234Ile)
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys) rs374262024
NM_004415.4(DSP):c.6740G>A (p.Gly2247Asp)
NM_004415.4(DSP):c.6744G>C (p.Glu2248Asp) rs1581822997
NM_004415.4(DSP):c.6759C>A (p.Phe2253Leu)
NM_004415.4(DSP):c.6760C>A (p.Leu2254Ile)
NM_004415.4(DSP):c.6765G>T (p.Gln2255His) rs766183320
NM_004415.4(DSP):c.6769T>G (p.Ser2257Ala) rs1759547079
NM_004415.4(DSP):c.6776G>T (p.Cys2259Phe) rs754635738
NM_004415.4(DSP):c.6778A>G (p.Ile2260Val)
NM_004415.4(DSP):c.6785G>A (p.Gly2262Asp)
NM_004415.4(DSP):c.67G>A (p.Gly23Ser) rs1757993019
NM_004415.4(DSP):c.6818G>A (p.Gly2273Asp)
NM_004415.4(DSP):c.6823T>C (p.Tyr2275His)
NM_004415.4(DSP):c.6824A>C (p.Tyr2275Ser)
NM_004415.4(DSP):c.6826G>A (p.Glu2276Lys)
NM_004415.4(DSP):c.6827A>G (p.Glu2276Gly)
NM_004415.4(DSP):c.682A>G (p.Ile228Val) rs934038992
NM_004415.4(DSP):c.6832A>G (p.Met2278Val)
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr) rs377085222
NM_004415.4(DSP):c.6859A>G (p.Thr2287Ala)
NM_004415.4(DSP):c.685G>A (p.Gly229Ser) rs376185352
NM_004415.4(DSP):c.685G>T (p.Gly229Cys)
NM_004415.4(DSP):c.688G>T (p.Asp230Tyr)
NM_004415.4(DSP):c.6895G>A (p.Gly2299Ser) rs1561703092
NM_004415.4(DSP):c.6896G>C (p.Gly2299Ala)
NM_004415.4(DSP):c.6919A>G (p.Asn2307Asp) rs1055504283
NM_004415.4(DSP):c.6920A>G (p.Asn2307Ser)
NM_004415.4(DSP):c.6946T>C (p.Tyr2316His)
NM_004415.4(DSP):c.694C>T (p.Arg232Cys) rs777847026
NM_004415.4(DSP):c.6950A>G (p.Lys2317Arg)
NM_004415.4(DSP):c.6955G>A (p.Gly2319Ser)
NM_004415.4(DSP):c.6967A>C (p.Ile2323Leu) rs1759554116
NM_004415.4(DSP):c.6974T>G (p.Phe2325Cys) rs1349503429
NM_004415.4(DSP):c.6981G>C (p.Glu2327Asp)
NM_004415.4(DSP):c.7001G>A (p.Arg2334Gln)
NM_004415.4(DSP):c.7009A>G (p.Thr2337Ala)
NM_004415.4(DSP):c.7014G>T (p.Gly2338=)
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.4(DSP):c.7024C>T (p.Pro2342Ser)
NM_004415.4(DSP):c.7031C>G (p.Thr2344Arg)
NM_004415.4(DSP):c.7031C>T (p.Thr2344Ile) rs746413668
NM_004415.4(DSP):c.7033G>C (p.Gly2345Arg)
NM_004415.4(DSP):c.7034G>A (p.Gly2345Glu)
NM_004415.4(DSP):c.7034G>C (p.Gly2345Ala)
NM_004415.4(DSP):c.7034G>T (p.Gly2345Val)
NM_004415.4(DSP):c.7037A>G (p.Asn2346Ser)
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu) rs768837509
NM_004415.4(DSP):c.7039ATC[1] (p.Ile2348del)
NM_004415.4(DSP):c.7045T>C (p.Ser2349Pro)
NM_004415.4(DSP):c.7048T>G (p.Leu2350Val)
NM_004415.4(DSP):c.7069G>C (p.Glu2357Gln)
NM_004415.4(DSP):c.7076T>C (p.Ile2359Thr)
NM_004415.4(DSP):c.7078G>A (p.Glu2360Lys)
NM_004415.4(DSP):c.7084G>A (p.Gly2362Ser)
NM_004415.4(DSP):c.7090G>A (p.Gly2364Ser)
NM_004415.4(DSP):c.7093A>G (p.Ile2365Val)
NM_004415.4(DSP):c.7105G>A (p.Glu2369Lys)
NM_004415.4(DSP):c.7112A>C (p.Gln2371Pro)
NM_004415.4(DSP):c.7120A>G (p.Thr2374Ala) rs1759559299
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg) rs376923069
NM_004415.4(DSP):c.7127G>A (p.Gly2376Glu)
NM_004415.4(DSP):c.7129_7152del (p.Ile2377_His2384del) rs2113701695
NM_004415.4(DSP):c.7133T>C (p.Ile2378Thr)
NM_004415.4(DSP):c.7148G>A (p.Ser2383Asn)
NM_004415.4(DSP):c.7163T>C (p.Val2388Ala)
NM_004415.4(DSP):c.716A>G (p.Lys239Arg)
NM_004415.4(DSP):c.7179G>T (p.Lys2393Asn) rs1759561425
NM_004415.4(DSP):c.7183G>A (p.Gly2395Ser)
NM_004415.4(DSP):c.7186T>A (p.Tyr2396Asn) rs863225268
NM_004415.4(DSP):c.7194T>A (p.Asn2398Lys)
NM_004415.4(DSP):c.71C>T (p.Pro24Leu) rs978383808
NM_004415.4(DSP):c.7204A>G (p.Ser2402Gly)
NM_004415.4(DSP):c.7204A>T (p.Ser2402Cys)
NM_004415.4(DSP):c.7213C>T (p.Leu2405Phe) rs774401264
NM_004415.4(DSP):c.7223C>A (p.Pro2408Gln) rs2113701876
NM_004415.4(DSP):c.7246T>C (p.Phe2416Leu) rs2113701908
NM_004415.4(DSP):c.7249G>A (p.Asp2417Asn)
NM_004415.4(DSP):c.7256A>C (p.Asn2419Thr)
NM_004415.4(DSP):c.7256_7258del (p.Asn2419del)
NM_004415.4(DSP):c.726+4C>T
NM_004415.4(DSP):c.726+5T>G
NM_004415.4(DSP):c.7268A>G (p.Asn2423Ser)
NM_004415.4(DSP):c.726G>A (p.Leu242=)
NM_004415.4(DSP):c.727-10_727-8del
NM_004415.4(DSP):c.727-13T>A
NM_004415.4(DSP):c.7277A>C (p.Tyr2426Ser)
NM_004415.4(DSP):c.727C>A (p.Arg243Ser)
NM_004415.4(DSP):c.727C>T (p.Arg243Cys) rs1191710190
NM_004415.4(DSP):c.7290A>C (p.Lys2430Asn)
NM_004415.4(DSP):c.7295G>T (p.Arg2432Ile)
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn) rs1554108998
NM_004415.4(DSP):c.7315A>G (p.Thr2439Ala)
NM_004415.4(DSP):c.7322T>C (p.Leu2441Pro)
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe) rs864309585
NM_004415.4(DSP):c.732G>A (p.Glu244=)
NM_004415.4(DSP):c.7339A>G (p.Lys2447Glu) rs1759567175
NM_004415.4(DSP):c.7343A>C (p.Glu2448Ala)
NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr) rs1581823888
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del) rs766860183
NM_004415.4(DSP):c.7350G>C (p.Lys2450Asn) rs1561703628
NM_004415.4(DSP):c.7356G>C (p.Gln2452His)
NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu) rs373890201
NM_004415.4(DSP):c.7364C>T (p.Thr2455Ile)
NM_004415.4(DSP):c.7369C>G (p.Gln2457Glu)
NM_004415.4(DSP):c.7370A>C (p.Gln2457Pro) rs1206306343
NM_004415.4(DSP):c.7372A>G (p.Lys2458Glu) rs1759568876
NM_004415.4(DSP):c.7381C>T (p.Leu2461Phe) rs201863784
NM_004415.4(DSP):c.7382T>A (p.Leu2461His)
NM_004415.4(DSP):c.7385G>A (p.Arg2462Lys)
NM_004415.4(DSP):c.7391G>A (p.Arg2464His)
NM_004415.4(DSP):c.7395A>C (p.Arg2465Ser)
NM_004415.4(DSP):c.7399G>T (p.Val2467Phe)
NM_004415.4(DSP):c.73G>T (p.Asp25Tyr) rs2113628779
NM_004415.4(DSP):c.7418C>T (p.Thr2473Ile) rs1389902511
NM_004415.4(DSP):c.7420A>G (p.Asn2474Asp)
NM_004415.4(DSP):c.7420A>T (p.Asn2474Tyr)
NM_004415.4(DSP):c.7421A>G (p.Asn2474Ser) rs1759570598
NM_004415.4(DSP):c.7426G>A (p.Glu2476Lys)
NM_004415.4(DSP):c.7427A>G (p.Glu2476Gly)
NM_004415.4(DSP):c.742A>G (p.Ile248Val)
NM_004415.4(DSP):c.7435G>C (p.Val2479Leu)
NM_004415.4(DSP):c.743T>C (p.Ile248Thr) rs1455602530
NM_004415.4(DSP):c.7456G>A (p.Gly2486Ser)
NM_004415.4(DSP):c.7460T>C (p.Leu2487Pro) rs1759571794
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.4(DSP):c.7478T>A (p.Phe2493Tyr)
NM_004415.4(DSP):c.7480A>G (p.Lys2494Glu)
NM_004415.4(DSP):c.7481A>G (p.Lys2494Arg)
NM_004415.4(DSP):c.7494G>A (p.Glu2498=)
NM_004415.4(DSP):c.7499A>G (p.Glu2500Gly)
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del) rs1473818298
NM_004415.4(DSP):c.7507T>G (p.Trp2503Gly)
NM_004415.4(DSP):c.7523_7525del (p.Ile2508del)
NM_004415.4(DSP):c.7526C>T (p.Thr2509Met)
NM_004415.4(DSP):c.7528G>A (p.Gly2510Arg)
NM_004415.4(DSP):c.7534G>C (p.Asp2512His)
NM_004415.4(DSP):c.7541C>T (p.Ser2514Phe)
NM_004415.4(DSP):c.7542_7543insCGTGGT (p.Ser2514_Thr2515insArgGly)
NM_004415.4(DSP):c.7543_7544delinsCGTGGTATCTGGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCCGTGGTAA (p.Thr2515delinsArgGlyIleTrpGluAlaTyrLysLysGlyLeuIleAspTyrGluThrPheLysGluLeuCysGluGlnGluCysGluTrpGluGluIleThrIleThrGlySerAspGlySerArgGlyAsn) rs2113702542
NM_004415.4(DSP):c.7544C>A (p.Thr2515Asn)
NM_004415.4(DSP):c.7546A>C (p.Arg2516=)
NM_004415.4(DSP):c.7546A>G (p.Arg2516Gly) rs1304859870
NM_004415.4(DSP):c.7571C>G (p.Thr2524Arg)
NM_004415.4(DSP):c.7579C>G (p.Gln2527Glu) rs2113702673
NM_004415.4(DSP):c.7582T>G (p.Tyr2528Asp) rs2113702680
NM_004415.4(DSP):c.7585G>A (p.Asp2529Asn) rs1759581655
NM_004415.4(DSP):c.7588A>G (p.Ile2530Val) rs397516958
NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr) rs768564872
NM_004415.4(DSP):c.7598C>G (p.Ala2533Gly)
NM_004415.4(DSP):c.7604A>G (p.Asp2535Gly) rs1759583033
NM_004415.4(DSP):c.7609G>C (p.Gly2537Arg)
NM_004415.4(DSP):c.7610G>A (p.Gly2537Asp)
NM_004415.4(DSP):c.7610G>T (p.Gly2537Val)
NM_004415.4(DSP):c.7613T>A (p.Leu2538His)
NM_004415.4(DSP):c.7616T>C (p.Val2539Ala)
NM_004415.4(DSP):c.7618G>C (p.Asp2540His)
NM_004415.4(DSP):c.7619A>T (p.Asp2540Val)
NM_004415.4(DSP):c.7620C>A (p.Asp2540Glu) rs2113702817
NM_004415.4(DSP):c.762G>T (p.Glu254Asp) rs1406835654
NM_004415.4(DSP):c.7632T>G (p.Phe2544Leu) rs1759584747
NM_004415.4(DSP):c.7633G>T (p.Asp2545Tyr)
NM_004415.4(DSP):c.7635T>G (p.Asp2545Glu) rs1759584844
NM_004415.4(DSP):c.7636C>G (p.Gln2546Glu)
NM_004415.4(DSP):c.7637A>C (p.Gln2546Pro)
NM_004415.4(DSP):c.7642C>G (p.Arg2548Gly)
NM_004415.4(DSP):c.7646C>T (p.Ser2549Phe)
NM_004415.4(DSP):c.7648G>A (p.Gly2550Ser) rs781151826
NM_004415.4(DSP):c.7648G>C (p.Gly2550Arg) rs781151826
NM_004415.4(DSP):c.7652GCCTCA[3] (p.Leu2554_Thr2555insSerLeu)
NM_004415.4(DSP):c.7653C>G (p.Ser2551Arg)
NM_004415.4(DSP):c.7655T>C (p.Leu2552Pro)
NM_004415.4(DSP):c.7657A>G (p.Ser2553Gly) rs769601021
NM_004415.4(DSP):c.7667A>T (p.Gln2556Leu) rs760434412
NM_004415.4(DSP):c.7675G>A (p.Asp2559Asn) rs2113702999
NM_004415.4(DSP):c.7678A>T (p.Met2560Leu)
NM_004415.4(DSP):c.7679T>C (p.Met2560Thr)
NM_004415.4(DSP):c.7684T>C (p.Ser2562Pro)
NM_004415.4(DSP):c.7684T>G (p.Ser2562Ala)
NM_004415.4(DSP):c.7685_7687del (p.Ser2562del) rs762495630
NM_004415.4(DSP):c.7689G>C (p.Leu2563Phe)
NM_004415.4(DSP):c.7689_7694dup (p.Lys2564_Asn2565insLysLys) rs1554109062
NM_004415.4(DSP):c.7692A>C (p.Lys2564Asn)
NM_004415.4(DSP):c.7699G>A (p.Val2567Ile)
NM_004415.4(DSP):c.769A>G (p.Asn257Asp) rs1758773914
NM_004415.4(DSP):c.7706C>A (p.Thr2569Asn)
NM_004415.4(DSP):c.7708A>G (p.Ser2570Gly) rs1456123705
NM_004415.4(DSP):c.7712G>A (p.Ser2571Asn)
NM_004415.4(DSP):c.7718T>C (p.Met2573Thr) rs1759589574
NM_004415.4(DSP):c.7721G>A (p.Gly2574Asp)
NM_004415.4(DSP):c.7728T>G (p.Gly2576=) rs545149894
NM_004415.4(DSP):c.7732A>G (p.Ser2578Gly)
NM_004415.4(DSP):c.7732A>T (p.Ser2578Cys)
NM_004415.4(DSP):c.7735G>C (p.Asp2579His) rs750744914
NM_004415.4(DSP):c.7736A>T (p.Asp2579Val)
NM_004415.4(DSP):c.7741G>A (p.Val2581Ile)
NM_004415.4(DSP):c.7747A>C (p.Ser2583Arg)
NM_004415.4(DSP):c.7750A>G (p.Ser2584Gly)
NM_004415.4(DSP):c.7754C>T (p.Ser2585Phe) rs1018344778
NM_004415.4(DSP):c.7756C>G (p.Arg2586Gly) rs1420689736
NM_004415.4(DSP):c.7757G>A (p.Arg2586Gln)
NM_004415.4(DSP):c.7762G>C (p.Glu2588Gln)
NM_004415.4(DSP):c.7768G>A (p.Val2590Ile)
NM_004415.4(DSP):c.776T>C (p.Leu259Pro) rs1758774627
NM_004415.4(DSP):c.777+5G>A
NM_004415.4(DSP):c.777+5G>T
NM_004415.4(DSP):c.778-11C>A
NM_004415.4(DSP):c.778-12C>T
NM_004415.4(DSP):c.778-4G>C rs1296932263
NM_004415.4(DSP):c.778-6G>A
NM_004415.4(DSP):c.7795G>A (p.Val2599Ile)
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.4(DSP):c.781G>A (p.Ala261Thr) rs967465931
NM_004415.4(DSP):c.7820G>T (p.Ser2607Ile)
NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr) rs777066674
NM_004415.4(DSP):c.7832A>T (p.Asp2611Val)
NM_004415.4(DSP):c.7837C>G (p.Leu2613Val) rs1286275087
NM_004415.4(DSP):c.7845A>C (p.Glu2615Asp) rs1367058874
NM_004415.4(DSP):c.7850G>A (p.Ser2617Asn) rs766739838
NM_004415.4(DSP):c.785C>T (p.Ser262Phe)
NM_004415.4(DSP):c.7861G>A (p.Ala2621Thr) rs1554109107
NM_004415.4(DSP):c.7868T>G (p.Phe2623Cys)
NM_004415.4(DSP):c.7886A>G (p.Glu2629Gly)
NM_004415.4(DSP):c.7894T>C (p.Ser2632Pro)
NM_004415.4(DSP):c.7895C>A (p.Ser2632Tyr)
NM_004415.4(DSP):c.7900A>G (p.Thr2634Ala) rs373200747
NM_004415.4(DSP):c.7902A>C (p.Thr2634=)
NM_004415.4(DSP):c.7906G>T (p.Gly2636Cys)
NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp) rs1759605211
NM_004415.4(DSP):c.7909A>G (p.Ile2637Val) rs1759605309
NM_004415.4(DSP):c.7911A>G (p.Ile2637Met) rs2113703589
NM_004415.4(DSP):c.7915C>G (p.Arg2639Gly)
NM_004415.4(DSP):c.7920C>T (p.Gly2640=)
NM_004415.4(DSP):c.7927G>A (p.Asp2643Asn)
NM_004415.4(DSP):c.7942C>G (p.Gln2648Glu) rs2113703697
NM_004415.4(DSP):c.7948C>A (p.Leu2650Ile)
NM_004415.4(DSP):c.7954G>A (p.Glu2652Lys)
NM_004415.4(DSP):c.795G>C (p.Arg265Ser)
NM_004415.4(DSP):c.796A>C (p.Met266Leu) rs1758827543
NM_004415.4(DSP):c.7981A>T (p.Ile2661Phe)
NM_004415.4(DSP):c.7987C>G (p.Pro2663Ala)
NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn) rs1759611499
NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp) rs750085948
NM_004415.4(DSP):c.8000A>G (p.Gln2667Arg)
NM_004415.4(DSP):c.801T>A (p.Asp267Glu)
NM_004415.4(DSP):c.8021C>G (p.Ala2674Gly) rs778480531
NM_004415.4(DSP):c.8027C>T (p.Ser2676Phe)
NM_004415.4(DSP):c.802C>A (p.His268Asn)
NM_004415.4(DSP):c.8043C>G (p.Asp2681Glu)
NM_004415.4(DSP):c.8052G>A (p.Met2684Ile) rs1408242511
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro) rs1006955897
NM_004415.4(DSP):c.8084T>G (p.Phe2695Cys) rs764994940
NM_004415.4(DSP):c.8085C>A (p.Phe2695Leu) rs1759617585
NM_004415.4(DSP):c.8093T>C (p.Phe2698Ser) rs1759618009
NM_004415.4(DSP):c.8093T>G (p.Phe2698Cys)
NM_004415.4(DSP):c.8101G>A (p.Val2701Met) rs1561704928
NM_004415.4(DSP):c.8107G>A (p.Gly2703Arg)
NM_004415.4(DSP):c.8120T>A (p.Met2707Lys)
NM_004415.4(DSP):c.8121G>A (p.Met2707Ile)
NM_004415.4(DSP):c.8121G>T (p.Met2707Ile) rs2113704161
NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr) rs924262414
NM_004415.4(DSP):c.8125G>A (p.Ala2709Thr)
NM_004415.4(DSP):c.8128G>A (p.Ala2710Thr)
NM_004415.4(DSP):c.8129C>A (p.Ala2710Glu)
NM_004415.4(DSP):c.8134G>T (p.Ala2712Ser)
NM_004415.4(DSP):c.8138T>G (p.Val2713Gly) rs1759621076
NM_004415.4(DSP):c.8143G>A (p.Glu2715Lys)
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg) rs1554109176
NM_004415.4(DSP):c.8152C>G (p.Leu2718Val)
NM_004415.4(DSP):c.8159A>G (p.Tyr2720Cys) rs367972703
NM_004415.4(DSP):c.8164G>A (p.Ala2722Thr)
NM_004415.4(DSP):c.8165C>G (p.Ala2722Gly)
NM_004415.4(DSP):c.8171A>G (p.Gln2724Arg) rs1759623133
NM_004415.4(DSP):c.8178C>G (p.Phe2726Leu)
NM_004415.4(DSP):c.8182G>A (p.Glu2728Lys)
NM_004415.4(DSP):c.8188C>G (p.Gln2730Glu)
NM_004415.4(DSP):c.8195T>G (p.Leu2732Arg)
NM_004415.4(DSP):c.8197A>C (p.Thr2733Pro)
NM_004415.4(DSP):c.8198C>T (p.Thr2733Met) rs1561705229
NM_004415.4(DSP):c.8201G>A (p.Gly2734Glu) rs1561705241
NM_004415.4(DSP):c.8203G>A (p.Gly2735Ser)
NM_004415.4(DSP):c.8207T>A (p.Leu2736His) rs1759625908
NM_004415.4(DSP):c.820A>C (p.Asn274His)
NM_004415.4(DSP):c.8213A>G (p.Asp2738Gly) rs2113704486
NM_004415.4(DSP):c.8216C>G (p.Pro2739Arg) rs761527198
NM_004415.4(DSP):c.8218G>C (p.Glu2740Gln)
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly) rs1198357388
NM_004415.4(DSP):c.8233A>C (p.Ile2745Leu)
NM_004415.4(DSP):c.8237G>C (p.Ser2746Thr)
NM_004415.4(DSP):c.8242G>A (p.Glu2748Lys)
NM_004415.4(DSP):c.8249C>T (p.Ala2750Val)
NM_004415.4(DSP):c.8252T>C (p.Ile2751Thr)
NM_004415.4(DSP):c.8252T>G (p.Ile2751Ser)
NM_004415.4(DSP):c.8255G>C (p.Arg2752Pro) rs769706539
NM_004415.4(DSP):c.8257A>C (p.Lys2753Gln) rs1554109205
NM_004415.4(DSP):c.8258A>G (p.Lys2753Arg)
NM_004415.4(DSP):c.8260G>A (p.Gly2754Arg)
NM_004415.4(DSP):c.8260G>C (p.Gly2754Arg)
NM_004415.4(DSP):c.8264dup (p.Ile2756fs)
NM_004415.4(DSP):c.8269G>C (p.Asp2757His)
NM_004415.4(DSP):c.8272G>A (p.Gly2758Ser)
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys) rs148254632
NM_004415.4(DSP):c.8276G>A (p.Arg2759His) rs936541705
NM_004415.4(DSP):c.8284C>T (p.Gln2762Ter) rs376703565
NM_004415.4(DSP):c.8286G>C (p.Gln2762His)
NM_004415.4(DSP):c.8288G>A (p.Arg2763Lys)
NM_004415.4(DSP):c.8291_8292insTGCT (p.Gln2765fs) rs756925801
NM_004415.4(DSP):c.8296G>A (p.Asp2766Asn) rs1759633378
NM_004415.4(DSP):c.8299A>G (p.Thr2767Ala) rs1304137526
NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8304C>G (p.Ser2768Arg)
NM_004415.4(DSP):c.8310T>A (p.Tyr2770Ter)
NM_004415.4(DSP):c.8316A>C (p.Lys2772Asn)
NM_004415.4(DSP):c.8317A>G (p.Ile2773Val)
NM_004415.4(DSP):c.8319C>G (p.Ile2773Met)
NM_004415.4(DSP):c.8319_8341del (p.Leu2774fs) rs2113704840
NM_004415.4(DSP):c.8324C>G (p.Thr2775Ser)
NM_004415.4(DSP):c.8330C>T (p.Pro2777Leu)
NM_004415.4(DSP):c.8342T>C (p.Leu2781Ser)
NM_004415.4(DSP):c.8343A>T (p.Leu2781Phe)
NM_004415.4(DSP):c.8346A>T (p.Lys2782Asn)
NM_004415.4(DSP):c.8350T>C (p.Ser2784Pro) rs1240301188
NM_004415.4(DSP):c.8351C>T (p.Ser2784Phe)
NM_004415.4(DSP):c.8357A>T (p.Lys2786Met) rs794728134
NM_004415.4(DSP):c.8363C>T (p.Ala2788Val) rs748307773
NM_004415.4(DSP):c.8365A>G (p.Ile2789Val) rs397516965
NM_004415.4(DSP):c.836C>T (p.Thr279Met) rs1758829264
NM_004415.4(DSP):c.8371C>G (p.Arg2791Gly) rs867430601
NM_004415.4(DSP):c.8371C>T (p.Arg2791Cys) rs867430601
NM_004415.4(DSP):c.8374T>G (p.Ser2792Ala)
NM_004415.4(DSP):c.8383G>C (p.Glu2795Gln)
NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn)
NM_004415.4(DSP):c.8386G>C (p.Asp2796His)
NM_004415.4(DSP):c.8387A>G (p.Asp2796Gly)
NM_004415.4(DSP):c.8387A>T (p.Asp2796Val) rs888716643
NM_004415.4(DSP):c.8390del (p.Ile2797fs)
NM_004415.4(DSP):c.8392A>T (p.Thr2798Ser) rs771976131
NM_004415.4(DSP):c.8396G>C (p.Gly2799Ala)
NM_004415.4(DSP):c.8401C>T (p.Arg2801Cys) rs760215987
NM_004415.4(DSP):c.8414C>G (p.Ala2805Gly)
NM_004415.4(DSP):c.8416G>C (p.Ala2806Pro)
NM_004415.4(DSP):c.8417C>T (p.Ala2806Val)
NM_004415.4(DSP):c.8419T>C (p.Ser2807Pro)
NM_004415.4(DSP):c.8423del (p.Val2808fs)
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
NM_004415.4(DSP):c.8431A>G (p.Lys2811Glu)
NM_004415.4(DSP):c.8432A>C (p.Lys2811Thr)
NM_004415.4(DSP):c.8434G>A (p.Gly2812Ser)
NM_004415.4(DSP):c.8438T>C (p.Leu2813Ser)
NM_004415.4(DSP):c.8440C>A (p.Pro2814Thr) rs1303168294
NM_004415.4(DSP):c.8441C>T (p.Pro2814Leu) rs756310918
NM_004415.4(DSP):c.8442dup (p.Ser2815fs) rs1554109247
NM_004415.4(DSP):c.8446C>T (p.Pro2816Ser)
NM_004415.4(DSP):c.8449T>C (p.Tyr2817His)
NM_004415.4(DSP):c.8450A>G (p.Tyr2817Cys)
NM_004415.4(DSP):c.8450ACA[1] (p.Asn2818del)
NM_004415.4(DSP):c.8455A>G (p.Met2819Val) rs138329459
NM_004415.4(DSP):c.8458T>C (p.Ser2820Pro)
NM_004415.4(DSP):c.8462_8463del (p.Ser2821fs) rs2113705206
NM_004415.4(DSP):c.8468C>T (p.Pro2823Leu) rs1404710139
NM_004415.4(DSP):c.8469_8487del (p.Gly2824fs) rs2113705210
NM_004415.4(DSP):c.8471G>C (p.Gly2824Ala)
NM_004415.4(DSP):c.8471_8483del (p.Gly2824fs) rs1759642975
NM_004415.4(DSP):c.8472_8495del (p.2827SGSR[3]) rs1267022420
NM_004415.4(DSP):c.8476C>A (p.Arg2826Ser) rs139969658
NM_004415.4(DSP):c.8480C>T (p.Ser2827Phe) rs746773800
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4]) rs397516968
NM_004415.4(DSP):c.8482G>C (p.Gly2828Arg) rs369682599
NM_004415.4(DSP):c.8484_8507del (p.2827SGSR[3])
NM_004415.4(DSP):c.8486C>G (p.Ser2829Cys) rs2113705415
NM_004415.4(DSP):c.8488C>A (p.Arg2830Ser) rs1354218745
NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys) rs1354218745
NM_004415.4(DSP):c.848T>G (p.Ile283Ser)
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6]) rs748194022
NM_004415.4(DSP):c.8493_8516del (p.2827_2830SGSR[3]) rs1554109280
NM_004415.4(DSP):c.8494G>A (p.Gly2832Arg)
NM_004415.4(DSP):c.8495G>C (p.Gly2832Ala) rs397516970
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6]) rs397516971
NM_004415.4(DSP):c.8496_8500dup (p.Arg2834fs)
NM_004415.4(DSP):c.8498C>T (p.Ser2833Phe)
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) rs121912999
NM_004415.4(DSP):c.8506G>A (p.Gly2836Arg)
NM_004415.4(DSP):c.8507G>C (p.Gly2836Ala)
NM_004415.4(DSP):c.8512C>T (p.Arg2838Cys)
NM_004415.4(DSP):c.8513G>A (p.Arg2838His) rs930055191
NM_004415.4(DSP):c.8514_8515insAG (p.Gly2840fs)
NM_004415.4(DSP):c.8515T>G (p.Ser2839Ala)
NM_004415.4(DSP):c.8515_8526dup (p.Arg2846_Arg2847insSerGlySerArg)
NM_004415.4(DSP):c.8516C>T (p.Ser2839Phe) rs750438076
NM_004415.4(DSP):c.8516_8517del (p.Ser2839fs)
NM_004415.4(DSP):c.8524C>G (p.Arg2842Gly)
NM_004415.4(DSP):c.8525G>A (p.Arg2842His)
NM_004415.4(DSP):c.852G>A (p.Met284Ile) rs794728110
NM_004415.4(DSP):c.852G>T (p.Met284Ile)
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) rs374137476
NM_004415.4(DSP):c.8536C>T (p.Arg2846Trp)
NM_004415.4(DSP):c.8552A>G (p.Asp2851Gly)
NM_004415.4(DSP):c.8553C>T (p.Asp2851=) rs1554109307
NM_004415.4(DSP):c.8554_8555dup (p.Thr2853fs)
NM_004415.4(DSP):c.8560G>A (p.Gly2854Arg)
NM_004415.4(DSP):c.8565T>G (p.Asn2855Lys)
NM_004415.4(DSP):c.8573A>G (p.Tyr2858Cys) rs1759654706
NM_004415.4(DSP):c.8576C>G (p.Ser2859Cys)
NM_004415.4(DSP):c.8576_8577del (p.Ser2859fs) rs727504909
NM_004415.4(DSP):c.8577_8588del (p.2858YS[1]) rs2113705755
NM_004415.4(DSP):c.8579A>G (p.Tyr2860Cys)
NM_004415.4(DSP):c.8582_8591del (p.Ser2861fs)
NM_004415.4(DSP):c.8583del (p.Tyr2862fs) rs765683790
NM_004415.4(DSP):c.8588C>T (p.Ser2863Leu)
NM_004415.4(DSP):c.8596AGT[1] (p.Ser2868del)
NM_004415.4(DSP):c.859A>C (p.Asn287His) rs1554106503
NM_004415.4(DSP):c.859A>G (p.Asn287Asp)
NM_004415.4(DSP):c.8602T>A (p.Ser2868Thr) rs1554109346
NM_004415.4(DSP):c.8605A>T (p.Ile2869Phe)
NM_004415.4(DSP):c.860A>C (p.Asn287Thr)
NM_004415.4(DSP):c.8615A>G (p.Ter2872Trp)
NM_004415.4(DSP):c.865T>C (p.Cys289Arg)
NM_004415.4(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004415.4(DSP):c.868GAG[5] (p.Glu293dup) rs1561685368
NM_004415.4(DSP):c.887A>C (p.Tyr296Ser)
NM_004415.4(DSP):c.889G>C (p.Asp297His) rs201930322
NM_004415.4(DSP):c.889G>T (p.Asp297Tyr) rs201930322
NM_004415.4(DSP):c.892T>G (p.Trp298Gly)
NM_004415.4(DSP):c.8G>A (p.Cys3Tyr) rs760993985
NM_004415.4(DSP):c.901A>G (p.Lys301Glu)
NM_004415.4(DSP):c.903G>C (p.Lys301Asn)
NM_004415.4(DSP):c.903G>T (p.Lys301Asn)
NM_004415.4(DSP):c.905A>T (p.Asn302Ile)
NM_004415.4(DSP):c.90G>A (p.Val30=)
NM_004415.4(DSP):c.910A>C (p.Asn304His) rs2113669485
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004415.4(DSP):c.922A>C (p.Lys308Gln) rs1060500617
NM_004415.4(DSP):c.928G>A (p.Glu310Lys)
NM_004415.4(DSP):c.931G>C (p.Ala311Pro)
NM_004415.4(DSP):c.935_937del (p.Phe312del) rs794728138
NM_004415.4(DSP):c.939+2_939+3insCC rs2113669596
NM_004415.4(DSP):c.939+4A>C
NM_004415.4(DSP):c.939+5G>T
NM_004415.4(DSP):c.940-7T>G rs1368622056
NM_004415.4(DSP):c.944G>A (p.Arg315His) rs558825586
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)
NM_004415.4(DSP):c.944_945delinsAA (p.Arg315Gln)
NM_004415.4(DSP):c.946A>T (p.Met316Leu)
NM_004415.4(DSP):c.947T>G (p.Met316Arg)
NM_004415.4(DSP):c.94A>G (p.Ser32Gly) rs2113628871
NM_004415.4(DSP):c.950G>C (p.Ser317Thr)
NM_004415.4(DSP):c.954A>C (p.Gln318His) rs1023875624
NM_004415.4(DSP):c.955C>G (p.Leu319Val) rs777852039
NM_004415.4(DSP):c.956T>C (p.Leu319Pro)
NM_004415.4(DSP):c.95G>A (p.Ser32Asn)
NM_004415.4(DSP):c.962T>A (p.Val321Asp)
NM_004415.4(DSP):c.967G>C (p.Glu323Gln) rs1057522287
NM_004415.4(DSP):c.968A>G (p.Glu323Gly) rs1064795408
NM_004415.4(DSP):c.969_974del (p.322KE[1])
NM_004415.4(DSP):c.974A>G (p.Glu325Gly)
NM_004415.4(DSP):c.979A>G (p.Asn327Asp) rs794727915
NM_004415.4(DSP):c.97G>A (p.Gly33Ser) rs1581777550
NM_004415.4(DSP):c.986T>C (p.Leu329Pro)
NM_004415.4(DSP):c.992A>C (p.Gln331Pro) rs746517026
NM_004415.4(DSP):c.998G>C (p.Ser333Thr) rs749695729
NM_004985.5(KRAS):c.-176CGG[4] rs886049200
NM_004985.5(KRAS):c.168C>T (p.Leu56=)
NM_004985.5(KRAS):c.184GAG[1] (p.Glu63del) rs730880469
NM_004985.5(KRAS):c.331A>G (p.Met111Val)
NM_004985.5(KRAS):c.352T>C (p.Cys118Arg) rs1951384485
NM_004985.5(KRAS):c.365C>G (p.Ser122Cys)
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.450+5G>A
NM_004985.5(KRAS):c.451-6T>C
NM_004985.5(KRAS):c.534_536del (p.Lys180del) rs1373386042
NM_004985.5(KRAS):c.58A>G (p.Thr20Ala) rs2135806003
NM_004990.4(MARS1):c.1102G>T (p.Asp368Tyr)
NM_004990.4(MARS1):c.1316_1327dup (p.Pro442_Val443insGlySerCysPro)
NM_004990.4(MARS1):c.1450T>C (p.Ser484Pro)
NM_005030.6(PLK1):c.1316C>G (p.Ser439Ter)
NM_005220.3(DLX3):c.337GAG[1] (p.Glu114del) rs1598155105
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
NM_006978.3(RNF113A):c.484T>C (p.Tyr162His) rs2056408187
NM_006978.3(RNF113A):c.76G>A (p.Gly26Arg) rs369106726
NM_006978.3(RNF113A):c.860T>C (p.Leu287Pro) rs2147812233
NM_006978.3(RNF113A):c.903_910del (p.Gln302fs) rs1603374549
NM_012461.3(TINF2):c.*259GT[2]
NM_012461.3(TINF2):c.-316G>A rs886050436
NM_013386.5(SLC25A24):c.1346C>T (p.Pro449Leu)
NM_013386.5(SLC25A24):c.1A>C (p.Met1Leu)
NM_013386.5(SLC25A24):c.424G>A (p.Val142Met) rs2101618595
NM_013386.5(SLC25A24):c.812_822+1del rs1679855807
NM_013386.5(SLC25A24):c.931G>T (p.Val311Phe)
NM_014112.5(TRPS1):c.*1843del rs886062619
NM_014112.5(TRPS1):c.*1983_*1984insG rs886062618
NM_014112.5(TRPS1):c.*2740del rs879823190
NM_014112.5(TRPS1):c.*3538del rs547899966
NM_014112.5(TRPS1):c.*4593AAAGG[1] rs755682849
NM_014112.5(TRPS1):c.*4741del rs886062604
NM_014112.5(TRPS1):c.*4754_*4761dup rs755990611
NM_014112.5(TRPS1):c.*4845ATA[1] rs775143556
NM_014112.5(TRPS1):c.-318CT[13] rs10546472
NM_014112.5(TRPS1):c.-318CT[9] rs10546472
NM_014112.5(TRPS1):c.-320_-319del rs199575103
NM_014112.5(TRPS1):c.-382del rs886062631
NM_014112.5(TRPS1):c.-393_-392dup rs759303878
NM_014112.5(TRPS1):c.1026C>A (p.Asn342Lys) rs1407182463
NM_014112.5(TRPS1):c.1040G>A (p.Arg347His)
NM_014112.5(TRPS1):c.1049T>C (p.Phe350Ser)
NM_014112.5(TRPS1):c.1084G>A (p.Glu362Lys)
NM_014112.5(TRPS1):c.1107G>C (p.Gln369His)
NM_014112.5(TRPS1):c.1138C>T (p.Pro380Ser)
NM_014112.5(TRPS1):c.1150G>T (p.Val384Phe)
NM_014112.5(TRPS1):c.1154C>A (p.Ala385Glu)
NM_014112.5(TRPS1):c.1196T>G (p.Leu399Arg)
NM_014112.5(TRPS1):c.1217A>G (p.Asp406Gly)
NM_014112.5(TRPS1):c.1219T>A (p.Leu407Met) rs1817996176
NM_014112.5(TRPS1):c.1223G>C (p.Gly408Ala)
NM_014112.5(TRPS1):c.1244C>T (p.Thr415Ile)
NM_014112.5(TRPS1):c.1288_1296del (p.Ile430_Pro432del)
NM_014112.5(TRPS1):c.1333A>C (p.Ser445Arg)
NM_014112.5(TRPS1):c.1339T>C (p.Tyr447His)
NM_014112.5(TRPS1):c.1346G>A (p.Cys449Tyr)
NM_014112.5(TRPS1):c.1353T>G (p.Phe451Leu)
NM_014112.5(TRPS1):c.1372T>A (p.Ser458Thr)
NM_014112.5(TRPS1):c.1376C>G (p.Ser459Cys)
NM_014112.5(TRPS1):c.1396G>C (p.Glu466Gln)
NM_014112.5(TRPS1):c.140A>G (p.Asn47Ser)
NM_014112.5(TRPS1):c.1411C>A (p.Gln471Lys)
NM_014112.5(TRPS1):c.1417G>A (p.Gly473Arg)
NM_014112.5(TRPS1):c.1435G>A (p.Gly479Ser)
NM_014112.5(TRPS1):c.1444C>A (p.Pro482Thr)
NM_014112.5(TRPS1):c.1494T>A (p.Asp498Glu)
NM_014112.5(TRPS1):c.1558AAG[1] (p.Lys521del)
NM_014112.5(TRPS1):c.1615C>A (p.Gln539Lys)
NM_014112.5(TRPS1):c.1631G>A (p.Arg544Gln)
NM_014112.5(TRPS1):c.1651C>A (p.Pro551Thr)
NM_014112.5(TRPS1):c.1652C>T (p.Pro551Leu) rs2130491714
NM_014112.5(TRPS1):c.1654G>C (p.Asp552His)
NM_014112.5(TRPS1):c.1657G>C (p.Val553Leu) rs780734185
NM_014112.5(TRPS1):c.1663G>T (p.Val555Leu)
NM_014112.5(TRPS1):c.1697T>G (p.Leu566Arg)
NM_014112.5(TRPS1):c.1718C>T (p.Thr573Ile) rs2130491431
NM_014112.5(TRPS1):c.17A>G (p.Asn6Ser)
NM_014112.5(TRPS1):c.1846T>A (p.Ser616Thr) rs780551240
NM_014112.5(TRPS1):c.1856C>T (p.Ala619Val)
NM_014112.5(TRPS1):c.185G>A (p.Ser62Asn) rs1085307671
NM_014112.5(TRPS1):c.1877A>G (p.Lys626Arg)
NM_014112.5(TRPS1):c.1951G>A (p.Glu651Lys) rs1174923595
NM_014112.5(TRPS1):c.1955C>A (p.Ser652Tyr)
NM_014112.5(TRPS1):c.1975C>A (p.Gln659Lys)
NM_014112.5(TRPS1):c.1976AAG[1] (p.Glu660del)
NM_014112.5(TRPS1):c.2026A>G (p.Ser676Gly)
NM_014112.5(TRPS1):c.202A>G (p.Asn68Asp)
NM_014112.5(TRPS1):c.2031A>C (p.Lys677Asn)
NM_014112.5(TRPS1):c.2036A>T (p.His679Leu)
NM_014112.5(TRPS1):c.2107A>C (p.Ser703Arg)
NM_014112.5(TRPS1):c.2108G>A (p.Ser703Asn)
NM_014112.5(TRPS1):c.212A>G (p.Glu71Gly)
NM_014112.5(TRPS1):c.2183A>G (p.His728Arg)
NM_014112.5(TRPS1):c.2195A>G (p.Gln732Arg)
NM_014112.5(TRPS1):c.2198A>G (p.Asp733Gly)
NM_014112.5(TRPS1):c.2213A>G (p.Asn738Ser)
NM_014112.5(TRPS1):c.2236A>C (p.Ile746Leu)
NM_014112.5(TRPS1):c.2251G>C (p.Glu751Gln) rs1207875402
NM_014112.5(TRPS1):c.2297A>C (p.Asp766Ala) rs1817588637
NM_014112.5(TRPS1):c.2397T>A (p.Ser799Arg)
NM_014112.5(TRPS1):c.23G>A (p.Gly8Glu)
NM_014112.5(TRPS1):c.2441G>A (p.Arg814Gln) rs146506752
NM_014112.5(TRPS1):c.2444G>T (p.Gly815Val) rs763124273
NM_014112.5(TRPS1):c.2469C>G (p.Ser823Arg)
NM_014112.5(TRPS1):c.2522G>A (p.Arg841Lys)
NM_014112.5(TRPS1):c.2542G>A (p.Ala848Thr)
NM_014112.5(TRPS1):c.2572T>G (p.Leu858Val)
NM_014112.5(TRPS1):c.2579T>G (p.Val860Gly)
NM_014112.5(TRPS1):c.2585C>T (p.Thr862Ile)
NM_014112.5(TRPS1):c.2601G>T (p.Gln867His) rs1817576456
NM_014112.5(TRPS1):c.2609C>T (p.Pro870Leu)
NM_014112.5(TRPS1):c.2627C>A (p.Ser876Tyr)
NM_014112.5(TRPS1):c.2632G>A (p.Ala878Thr)
NM_014112.5(TRPS1):c.2638C>T (p.Pro880Ser)
NM_014112.5(TRPS1):c.264G>T (p.Leu88Phe)
NM_014112.5(TRPS1):c.2650C>T (p.Pro884Ser) rs2130443313
NM_014112.5(TRPS1):c.2683T>G (p.Ser895Ala) rs2130443107
NM_014112.5(TRPS1):c.2697A>T (p.Leu899Phe)
NM_014112.5(TRPS1):c.2700G>C (p.Arg900=) rs2130443039
NM_014112.5(TRPS1):c.2725T>C (p.Cys909Arg)
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) rs1554617580
NM_014112.5(TRPS1):c.2735G>T (p.Cys912Phe)
NM_014112.5(TRPS1):c.2750C>T (p.Thr917Ile)
NM_014112.5(TRPS1):c.2753C>T (p.Ser918Phe)
NM_014112.5(TRPS1):c.275T>C (p.Val92Ala) rs1818352045
NM_014112.5(TRPS1):c.2769T>G (p.Asn923Lys) rs775374141
NM_014112.5(TRPS1):c.2788T>C (p.Cys930Arg) rs1812971696
NM_014112.5(TRPS1):c.2788T>G (p.Cys930Gly) rs1812971696
NM_014112.5(TRPS1):c.2792A>T (p.Asn931Ile)
NM_014112.5(TRPS1):c.2803C>T (p.Leu935Phe) rs1812970992
NM_014112.5(TRPS1):c.2812A>C (p.Lys938Gln)
NM_014112.5(TRPS1):c.2879G>C (p.Arg960Thr)
NM_014112.5(TRPS1):c.2891A>C (p.Lys964Thr) rs1812883227
NM_014112.5(TRPS1):c.2907G>C (p.Glu969Asp)
NM_014112.5(TRPS1):c.2924A>T (p.Gln975Leu)
NM_014112.5(TRPS1):c.2930A>G (p.Asn977Ser)
NM_014112.5(TRPS1):c.2975C>T (p.Pro992Leu)
NM_014112.5(TRPS1):c.3020G>A (p.Arg1007Lys)
NM_014112.5(TRPS1):c.3028C>G (p.Pro1010Ala)
NM_014112.5(TRPS1):c.304G>A (p.Glu102Lys)
NM_014112.5(TRPS1):c.3052G>A (p.Glu1018Lys)
NM_014112.5(TRPS1):c.3060G>T (p.Gln1020His)
NM_014112.5(TRPS1):c.3116T>C (p.Leu1039Pro) rs1286729898
NM_014112.5(TRPS1):c.3176C>G (p.Thr1059Ser)
NM_014112.5(TRPS1):c.3182A>G (p.Asp1061Gly)
NM_014112.5(TRPS1):c.3185C>T (p.Pro1062Leu)
NM_014112.5(TRPS1):c.3188G>A (p.Gly1063Glu)
NM_014112.5(TRPS1):c.323G>A (p.Gly108Glu) rs1206269604
NM_014112.5(TRPS1):c.3263C>T (p.Ala1088Val)
NM_014112.5(TRPS1):c.3272C>T (p.Pro1091Leu)
NM_014112.5(TRPS1):c.3317C>A (p.Pro1106Gln)
NM_014112.5(TRPS1):c.3334T>C (p.Phe1112Leu)
NM_014112.5(TRPS1):c.3350T>C (p.Phe1117Ser) rs1812867470
NM_014112.5(TRPS1):c.3364G>A (p.Asp1122Asn)
NM_014112.5(TRPS1):c.3374G>A (p.Arg1125Gln)
NM_014112.5(TRPS1):c.3419A>G (p.Tyr1140Cys)
NM_014112.5(TRPS1):c.341C>T (p.Pro114Leu)
NM_014112.5(TRPS1):c.3443C>G (p.Pro1148Arg)
NM_014112.5(TRPS1):c.3469T>C (p.Tyr1157His)
NM_014112.5(TRPS1):c.3499T>G (p.Ser1167Ala)
NM_014112.5(TRPS1):c.3502G>T (p.Ala1168Ser)
NM_014112.5(TRPS1):c.3505G>T (p.Val1169Phe)
NM_014112.5(TRPS1):c.3509G>C (p.Gly1170Ala)
NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly) rs986339998
NM_014112.5(TRPS1):c.3518A>G (p.Asn1173Ser)
NM_014112.5(TRPS1):c.3539C>T (p.Ala1180Val)
NM_014112.5(TRPS1):c.3584A>G (p.Lys1195Arg)
NM_014112.5(TRPS1):c.35C>T (p.Thr12Ile)
NM_014112.5(TRPS1):c.3616A>T (p.Asn1206Tyr)
NM_014112.5(TRPS1):c.361A>G (p.Arg121Gly) rs964024525
NM_014112.5(TRPS1):c.3620A>G (p.Glu1207Gly) rs2129746312
NM_014112.5(TRPS1):c.3629T>G (p.Leu1210Trp) rs2129746217
NM_014112.5(TRPS1):c.3637G>C (p.Val1213Leu)
NM_014112.5(TRPS1):c.37+7G>A
NM_014112.5(TRPS1):c.3703A>G (p.Ile1235Val)
NM_014112.5(TRPS1):c.3717T>A (p.Asp1239Glu)
NM_014112.5(TRPS1):c.3724A>T (p.Met1242Leu)
NM_014112.5(TRPS1):c.3725dup (p.Met1242fs)
NM_014112.5(TRPS1):c.3736C>T (p.His1246Tyr) rs1812855223
NM_014112.5(TRPS1):c.3749A>C (p.His1250Pro) rs2129745482
NM_014112.5(TRPS1):c.3749A>G (p.His1250Arg)
NM_014112.5(TRPS1):c.3751G>A (p.Gly1251Ser) rs1234476401
NM_014112.5(TRPS1):c.3790C>G (p.Leu1264Val)
NM_014112.5(TRPS1):c.3833G>C (p.Gly1278Ala)
NM_014112.5(TRPS1):c.3866dup (p.Asn1289fs) rs1401148397
NM_014112.5(TRPS1):c.388G>C (p.Ala130Pro)
NM_014112.5(TRPS1):c.416A>G (p.Lys139Arg)
NM_014112.5(TRPS1):c.461G>A (p.Cys154Tyr)
NM_014112.5(TRPS1):c.49A>G (p.Lys17Glu)
NM_014112.5(TRPS1):c.504G>T (p.Lys168Asn)
NM_014112.5(TRPS1):c.570G>C (p.Leu190Phe)
NM_014112.5(TRPS1):c.584T>C (p.Val195Ala)
NM_014112.5(TRPS1):c.586G>A (p.Ala196Thr)
NM_014112.5(TRPS1):c.587C>T (p.Ala196Val)
NM_014112.5(TRPS1):c.592A>G (p.Lys198Glu)
NM_014112.5(TRPS1):c.599C>T (p.Pro200Leu)
NM_014112.5(TRPS1):c.608C>T (p.Pro203Leu)
NM_014112.5(TRPS1):c.653T>G (p.Leu218Arg)
NM_014112.5(TRPS1):c.713A>G (p.Asn238Ser)
NM_014112.5(TRPS1):c.805C>G (p.Gln269Glu) rs770670680
NM_014112.5(TRPS1):c.812C>T (p.Ala271Val)
NM_014112.5(TRPS1):c.878A>G (p.Gln293Arg)
NM_014112.5(TRPS1):c.895G>T (p.Val299Leu)
NM_014112.5(TRPS1):c.923A>G (p.Asn308Ser)
NM_014112.5(TRPS1):c.926C>T (p.Ser309Phe)
NM_014112.5(TRPS1):c.940T>A (p.Leu314Ile)
NM_014112.5(TRPS1):c.950G>A (p.Gly317Glu)
NM_015450.3(POT1):c.1294C>T (p.Arg432Ter) rs758341603
NM_015450.3(POT1):c.437C>T (p.Pro146Leu) rs1554426915
NM_015450.3(POT1):c.728G>A (p.Ser243Asn)
NM_015559.3(SETBP1):c.*1643_*1647del rs370951422
NM_015559.3(SETBP1):c.*2063_*2066del rs886053806
NM_015559.3(SETBP1):c.*2970_*2971insT rs886053809
NM_015559.3(SETBP1):c.*2971del rs886053810
NM_015559.3(SETBP1):c.*2987dup rs34125334
NM_015559.3(SETBP1):c.*2988del rs886053812
NM_015559.3(SETBP1):c.*745dup rs368699262
NM_015559.3(SETBP1):c.-241dup rs886053786
NM_015559.3(SETBP1):c.1058_1059delinsTC (p.Asp353Val) rs2145095402
NM_015559.3(SETBP1):c.2111C>T (p.Ala704Val) rs1599367870
NM_015559.3(SETBP1):c.2358C>T (p.Ser786=) rs886053793
NM_015559.3(SETBP1):c.2618C>G (p.Thr873Arg)
NM_015559.3(SETBP1):c.2825G>C (p.Arg942Pro)
NM_015559.3(SETBP1):c.2903G>A (p.Arg968Lys)
NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys) rs2071375286
NM_015559.3(SETBP1):c.2984C>T (p.Pro995Leu)
NM_015559.3(SETBP1):c.3022C>G (p.Arg1008Gly) rs776187085
NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.4438G>A (p.Asp1480Asn)
NM_015559.3(SETBP1):c.4666A>C (p.Lys1556Gln)
NM_015559.3(SETBP1):c.540+1G>A
NM_015559.3(SETBP1):c.655C>T (p.His219Tyr)
NM_015559.3(SETBP1):c.812G>A (p.Gly271Glu) rs749422908
NM_015650.4(TRAF3IP1):c.1352T>A (p.Leu451His) rs1559369181
NM_017410.3(HOXC13):c.325C>T (p.Pro109Ser)
NM_017410.3(HOXC13):c.720G>C (p.Trp240Cys)
NM_017410.3(HOXC13):c.932G>C (p.Arg311Pro)
NM_017612.5(ZCCHC8):c.586G>A (p.Glu196Lys)
NM_017612.5(ZCCHC8):c.658G>C (p.Val220Leu)
NM_017838.4(NHP2):c.104C>T (p.Ala35Val)
NM_017838.4(NHP2):c.106dup (p.Gln36fs) rs1756333644
NM_017838.4(NHP2):c.115G>A (p.Ala39Thr)
NM_017838.4(NHP2):c.116C>A (p.Ala39Asp) rs1439650238
NM_017838.4(NHP2):c.120_122del (p.Arg42del)
NM_017838.4(NHP2):c.122_129del (p.Arg41fs) rs1756332858
NM_017838.4(NHP2):c.130A>T (p.Thr44Ser)
NM_017838.4(NHP2):c.155A>G (p.Lys52Arg) rs2113476542
NM_017838.4(NHP2):c.156G>C (p.Lys52Asn)
NM_017838.4(NHP2):c.157A>G (p.Lys53Glu)
NM_017838.4(NHP2):c.160+4A>C rs1419452406
NM_017838.4(NHP2):c.160+4A>G
NM_017838.4(NHP2):c.160+5G>C
NM_017838.4(NHP2):c.160G>A (p.Ala54Thr)
NM_017838.4(NHP2):c.163G>A (p.Val55Met) rs1756327381
NM_017838.4(NHP2):c.163G>C (p.Val55Leu)
NM_017838.4(NHP2):c.167A>G (p.Lys56Arg) rs2113476084
NM_017838.4(NHP2):c.172A>C (p.Lys58Gln)
NM_017838.4(NHP2):c.177G>C (p.Gln59His) rs2113476075
NM_017838.4(NHP2):c.17C>T (p.Ala6Val)
NM_017838.4(NHP2):c.181C>T (p.Arg61Trp) rs773420072
NM_017838.4(NHP2):c.187G>C (p.Gly63Arg) rs1756326801
NM_017838.4(NHP2):c.196G>A (p.Glu66Lys)
NM_017838.4(NHP2):c.197_198del (p.Glu66fs) rs1333837047
NM_017838.4(NHP2):c.199G>A (p.Val67Ile)
NM_017838.4(NHP2):c.19G>C (p.Asp7His) rs1581138326
NM_017838.4(NHP2):c.204G>T (p.Gln68His)
NM_017838.4(NHP2):c.216C>G (p.Asn72Lys)
NM_017838.4(NHP2):c.220G>A (p.Gly74Arg)
NM_017838.4(NHP2):c.228A>C (p.Lys76Asn) rs2113475874
NM_017838.4(NHP2):c.230+4dup rs1581137979
NM_017838.4(NHP2):c.231-9T>C
NM_017838.4(NHP2):c.231G>C (p.Gly77=)
NM_017838.4(NHP2):c.233T>A (p.Ile78Asn) rs1348885486
NM_017838.4(NHP2):c.237G>A (p.Met79Ile) rs1561644268
NM_017838.4(NHP2):c.259C>T (p.Pro87Ser)
NM_017838.4(NHP2):c.262A>G (p.Ile88Val)
NM_017838.4(NHP2):c.266A>C (p.Glu89Ala)
NM_017838.4(NHP2):c.267_270del (p.Glu89fs) rs754436041
NM_017838.4(NHP2):c.28G>A (p.Gly10Arg)
NM_017838.4(NHP2):c.298G>A (p.Asp100Asn)
NM_017838.4(NHP2):c.2T>G (p.Met1Arg)
NM_017838.4(NHP2):c.301C>G (p.Arg101Gly)
NM_017838.4(NHP2):c.311C>T (p.Pro104Leu)
NM_017838.4(NHP2):c.314A>G (p.Tyr105Cys) rs772671488
NM_017838.4(NHP2):c.316G>A (p.Val106Ile)
NM_017838.4(NHP2):c.319T>A (p.Tyr107Asn)
NM_017838.4(NHP2):c.319dup (p.Tyr107fs)
NM_017838.4(NHP2):c.320A>G (p.Tyr107Cys) rs760076146
NM_017838.4(NHP2):c.326C>T (p.Pro109Leu)
NM_017838.4(NHP2):c.336+2T>C
NM_017838.4(NHP2):c.337-3T>C
NM_017838.4(NHP2):c.34G>C (p.Glu12Gln) rs1296058145
NM_017838.4(NHP2):c.355G>A (p.Gly119Ser)
NM_017838.4(NHP2):c.355G>C (p.Gly119Arg) rs750874926
NM_017838.4(NHP2):c.362A>G (p.Lys121Arg) rs2113463207
NM_017838.4(NHP2):c.364C>A (p.Arg122Ser)
NM_017838.4(NHP2):c.364C>T (p.Arg122Cys) rs752392516
NM_017838.4(NHP2):c.365G>A (p.Arg122His)
NM_017838.4(NHP2):c.369dup (p.Thr124fs)
NM_017838.4(NHP2):c.373T>C (p.Cys125Arg)
NM_017838.4(NHP2):c.383T>C (p.Met128Thr) rs759145032
NM_017838.4(NHP2):c.391C>A (p.Pro131Thr)
NM_017838.4(NHP2):c.397G>A (p.Glu133Lys)
NM_017838.4(NHP2):c.397GAG[1] (p.Glu134del) rs1756214889
NM_017838.4(NHP2):c.413C>G (p.Ala138Gly)
NM_017838.4(NHP2):c.418G>A (p.Asp140Asn) rs1214412834
NM_017838.4(NHP2):c.422A>G (p.Glu141Gly)
NM_017838.4(NHP2):c.436G>C (p.Val146Leu)
NM_017838.4(NHP2):c.439C>T (p.Gln147Ter)
NM_017838.4(NHP2):c.445C>G (p.Leu149Val)
NM_017838.4(NHP2):c.455C>A (p.Pro152His)
NM_017838.4(NHP2):c.455C>T (p.Pro152Leu)
NM_017838.4(NHP2):c.460T>G (p.Ter154Gly) rs121908091
NM_017838.4(NHP2):c.53G>A (p.Cys18Tyr) rs1373808491
NM_017838.4(NHP2):c.61dup (p.Glu21fs) rs780613876
NM_017838.4(NHP2):c.68C>T (p.Thr23Ile) rs1341101133
NM_017838.4(NHP2):c.80T>A (p.Leu27Gln)
NM_017838.4(NHP2):c.97C>T (p.Pro33Ser)
NM_018648.3(NOP10):c.-101C>G rs1890516145
NM_018648.3(NOP10):c.-88A>G rs1890515011
NM_018648.4(NOP10):c.*184A>G rs113289404
NM_018648.4(NOP10):c.*80C>T rs983946861
NM_018648.4(NOP10):c.-10A>G
NM_018648.4(NOP10):c.-38C>T rs112556317
NM_018648.4(NOP10):c.10C>T (p.Gln4Ter)
NM_018648.4(NOP10):c.11A>G (p.Gln4Arg)
NM_018648.4(NOP10):c.122_135delinsCACC (p.Tyr41fs) rs1595604667
NM_018648.4(NOP10):c.127C>G (p.Arg43Gly) rs1890485969
NM_018648.4(NOP10):c.128G>A (p.Arg43Gln)
NM_018648.4(NOP10):c.141dup (p.Ile48fs) rs1890485477
NM_018648.4(NOP10):c.151C>T (p.Arg51Cys)
NM_018648.4(NOP10):c.154T>C (p.Phe52Leu) rs752083783
NM_018648.4(NOP10):c.156C>G (p.Phe52Leu) rs2141228644
NM_018648.4(NOP10):c.161T>G (p.Val54Gly)
NM_018648.4(NOP10):c.173A>G (p.Gln58Arg)
NM_018648.4(NOP10):c.174G>T (p.Gln58His)
NM_018648.4(NOP10):c.181C>T (p.Arg61Cys)
NM_018648.4(NOP10):c.185C>T (p.Pro62Leu)
NM_018648.4(NOP10):c.25G>A (p.Glu9Lys)
NM_018648.4(NOP10):c.27G>T (p.Glu9Asp) rs373678744
NM_018648.4(NOP10):c.36T>G (p.Asp12Glu) rs1890511080
NM_018648.4(NOP10):c.40_41delinsTG (p.Val14Cys)
NM_018648.4(NOP10):c.54+6G>A
NM_018648.4(NOP10):c.64C>T (p.Pro22Ser)
NM_018648.4(NOP10):c.6del (p.Leu3fs) rs756134994
NM_018648.4(NOP10):c.76_77del (p.Gln26fs)
NM_018648.4(NOP10):c.89C>A (p.Ala30Asp) rs748193565
NM_018648.4(NOP10):c.89C>G (p.Ala30Gly) rs748193565
NM_018648.4(NOP10):c.91C>T (p.His31Tyr)
NM_018648.4(NOP10):c.92A>G (p.His31Arg) rs373843596
NM_018648.4(NOP10):c.95C>G (p.Pro32Arg)
NM_020529.3(NFKBIA):c.*102T>G rs2052729719
NM_020529.3(NFKBIA):c.*302A>C rs886050475
NM_020529.3(NFKBIA):c.-42G>T rs1203824461
NM_020529.3(NFKBIA):c.-73C>A rs1372613093
NM_020529.3(NFKBIA):c.-80C>T rs886050476
NM_020529.3(NFKBIA):c.110T>A (p.Met37Lys) rs1566591073
NM_020529.3(NFKBIA):c.110T>G (p.Met37Arg) rs1566591073
NM_020529.3(NFKBIA):c.118G>A (p.Glu40Lys)
NM_020529.3(NFKBIA):c.131A>G (p.Gln44Arg) rs2052768045
NM_020529.3(NFKBIA):c.135G>C (p.Met45Ile)
NM_020529.3(NFKBIA):c.158G>A (p.Arg53His)
NM_020529.3(NFKBIA):c.165G>C (p.Glu55Asp)
NM_020529.3(NFKBIA):c.184G>A (p.Gly62Ser)
NM_020529.3(NFKBIA):c.185G>A (p.Gly62Asp)
NM_020529.3(NFKBIA):c.188C>T (p.Ser63Leu) rs376762724
NM_020529.3(NFKBIA):c.193C>G (p.Pro65Ala) rs778206898
NM_020529.3(NFKBIA):c.193C>T (p.Pro65Ser)
NM_020529.3(NFKBIA):c.197G>C (p.Trp66Ser)
NM_020529.3(NFKBIA):c.19C>T (p.Arg7Cys)
NM_020529.3(NFKBIA):c.208C>G (p.Leu70Val)
NM_020529.3(NFKBIA):c.209T>C (p.Leu70Pro) rs2052766731
NM_020529.3(NFKBIA):c.220G>C (p.Gly74Arg) rs766345843
NM_020529.3(NFKBIA):c.227+5G>A
NM_020529.3(NFKBIA):c.247A>G (p.Ile83Val) rs1165420329
NM_020529.3(NFKBIA):c.252T>G (p.His84Gln)
NM_020529.3(NFKBIA):c.256G>A (p.Glu86Lys) rs1388058525
NM_020529.3(NFKBIA):c.257A>C (p.Glu86Ala)
NM_020529.3(NFKBIA):c.283C>G (p.Arg95Gly) rs779105881
NM_020529.3(NFKBIA):c.284G>C (p.Arg95Pro) rs1340746414
NM_020529.3(NFKBIA):c.287A>G (p.Gln96Arg) rs2138832812
NM_020529.3(NFKBIA):c.301C>A (p.Leu101Met)
NM_020529.3(NFKBIA):c.310C>T (p.Leu104Phe)
NM_020529.3(NFKBIA):c.320A>C (p.Gln107Pro)
NM_020529.3(NFKBIA):c.325A>C (p.Asn109His) rs772897174
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter) rs121913664
NM_020529.3(NFKBIA):c.336+4C>T
NM_020529.3(NFKBIA):c.340C>G (p.Pro114Ala) rs763639524
NM_020529.3(NFKBIA):c.366C>G (p.Asn122Lys)
NM_020529.3(NFKBIA):c.373G>C (p.Glu125Gln)
NM_020529.3(NFKBIA):c.392T>G (p.Leu131Arg)
NM_020529.3(NFKBIA):c.410del (p.Pro137fs)
NM_020529.3(NFKBIA):c.416T>C (p.Leu139Pro)
NM_020529.3(NFKBIA):c.416T>G (p.Leu139Arg)
NM_020529.3(NFKBIA):c.419G>A (p.Arg140Gln)
NM_020529.3(NFKBIA):c.419G>C (p.Arg140Pro)
NM_020529.3(NFKBIA):c.428G>A (p.Arg143Gln)
NM_020529.3(NFKBIA):c.439C>A (p.Pro147Thr)
NM_020529.3(NFKBIA):c.44G>A (p.Gly15Asp)
NM_020529.3(NFKBIA):c.461A>G (p.Gln154Arg)
NM_020529.3(NFKBIA):c.469C>G (p.Leu157Val)
NM_020529.3(NFKBIA):c.46C>G (p.Pro16Ala)
NM_020529.3(NFKBIA):c.473C>G (p.Ala158Gly)
NM_020529.3(NFKBIA):c.473C>T (p.Ala158Val)
NM_020529.3(NFKBIA):c.478G>C (p.Val160Leu)
NM_020529.3(NFKBIA):c.499T>C (p.Cys167Arg)
NM_020529.3(NFKBIA):c.508C>T (p.Pro170Ser)
NM_020529.3(NFKBIA):c.50G>A (p.Arg17His)
NM_020529.3(NFKBIA):c.525C>G (p.Ile175Met)
NM_020529.3(NFKBIA):c.527T>C (p.Leu176Pro)
NM_020529.3(NFKBIA):c.52G>A (p.Asp18Asn) rs746636446
NM_020529.3(NFKBIA):c.536C>T (p.Thr179Ile)
NM_020529.3(NFKBIA):c.55G>A (p.Gly19Arg) rs2138834333
NM_020529.3(NFKBIA):c.569C>T (p.Ala190Val) rs762771956
NM_020529.3(NFKBIA):c.572C>G (p.Ser191Cys)
NM_020529.3(NFKBIA):c.572C>T (p.Ser191Phe) rs2138831210
NM_020529.3(NFKBIA):c.574A>G (p.Ile192Val)
NM_020529.3(NFKBIA):c.581G>A (p.Gly194Asp)
NM_020529.3(NFKBIA):c.584A>G (p.Tyr195Cys)
NM_020529.3(NFKBIA):c.592A>G (p.Ile198Val)
NM_020529.3(NFKBIA):c.595G>A (p.Val199Met)
NM_020529.3(NFKBIA):c.595G>C (p.Val199Leu)
NM_020529.3(NFKBIA):c.636+4G>A
NM_020529.3(NFKBIA):c.636+5G>A
NM_020529.3(NFKBIA):c.653G>A (p.Arg218Gln)
NM_020529.3(NFKBIA):c.656C>T (p.Thr219Ile)
NM_020529.3(NFKBIA):c.688C>G (p.Pro230Ala)
NM_020529.3(NFKBIA):c.693C>A (p.Asp231Glu)
NM_020529.3(NFKBIA):c.714G>C (p.Lys238Asn)
NM_020529.3(NFKBIA):c.74T>C (p.Leu25Pro)
NM_020529.3(NFKBIA):c.752A>G (p.Tyr251Cys)
NM_020529.3(NFKBIA):c.761A>G (p.Tyr254Cys) rs928841865
NM_020529.3(NFKBIA):c.779G>A (p.Arg260His)
NM_020529.3(NFKBIA):c.77T>G (p.Leu26Arg) rs1222307946
NM_020529.3(NFKBIA):c.784A>G (p.Ser262Gly) rs2138830573
NM_020529.3(NFKBIA):c.784A>T (p.Ser262Cys)
NM_020529.3(NFKBIA):c.826A>G (p.Asn276Asp)
NM_020529.3(NFKBIA):c.832C>A (p.Gln278Lys)
NM_020529.3(NFKBIA):c.838C>G (p.Leu280Val)
NM_020529.3(NFKBIA):c.841C>A (p.Pro281Thr)
NM_020529.3(NFKBIA):c.842C>T (p.Pro281Leu)
NM_020529.3(NFKBIA):c.848G>A (p.Ser283Asn)
NM_020529.3(NFKBIA):c.866_906+4dup rs1594426262
NM_020529.3(NFKBIA):c.86G>A (p.Arg29His) rs754412949
NM_020529.3(NFKBIA):c.879_887del (p.295_297FTE[1]) rs1566589938
NM_020529.3(NFKBIA):c.881A>G (p.Glu294Gly) rs2138830370
NM_020529.3(NFKBIA):c.882G>T (p.Glu294Asp)
NM_020529.3(NFKBIA):c.888_896del (p.295FTE[1]) rs1428421661
NM_020529.3(NFKBIA):c.899A>C (p.Glu300Ala)
NM_020529.3(NFKBIA):c.904G>A (p.Glu302Lys)
NM_020529.3(NFKBIA):c.911C>G (p.Pro304Arg) rs779867290
NM_020529.3(NFKBIA):c.914A>T (p.Tyr305Phe)
NM_020529.3(NFKBIA):c.917A>G (p.Asp306Gly)
NM_020529.3(NFKBIA):c.925G>A (p.Val309Met)
NM_020529.3(NFKBIA):c.935G>A (p.Gly312Asp)
NM_020529.3(NFKBIA):c.947C>T (p.Thr316Met)
NM_020639.3(RIPK4):c.*1151G>A rs948234291
NM_020639.3(RIPK4):c.*1172T>C rs2061146329
NM_020639.3(RIPK4):c.*1192A>G rs543933391
NM_020639.3(RIPK4):c.*1420T>G rs1194984878
NM_020639.3(RIPK4):c.*161G>A rs536240693
NM_020639.3(RIPK4):c.*173C>T rs1008340022
NM_020639.3(RIPK4):c.*201C>T rs886057085
NM_020639.3(RIPK4):c.*215G>T rs115041500
NM_020639.3(RIPK4):c.*273A>C rs1052236618
NM_020639.3(RIPK4):c.*961G>A rs1601672028
NM_020639.3(RIPK4):c.1079C>T (p.Ser360Phe) rs1470223809
NM_020639.3(RIPK4):c.1193G>T (p.Ser398Ile) rs201219158
NM_020639.3(RIPK4):c.1694T>G (p.Leu565Arg) rs2061153760
NM_020639.3(RIPK4):c.467A>C (p.His156Pro)
NM_020639.3(RIPK4):c.59G>A (p.Gly20Asp) rs2061239545
NM_020639.3(RIPK4):c.755C>T (p.Pro252Leu) rs770860869
NM_020779.4(WDR35):c.*1005C>A rs746476400
NM_020779.4(WDR35):c.*1270C>T rs568999408
NM_020779.4(WDR35):c.*1461A>C rs886055400
NM_020779.4(WDR35):c.*1637C>T rs1669848389
NM_020779.4(WDR35):c.*16T>C rs1669898811
NM_020779.4(WDR35):c.*1754C>G rs1188052659
NM_020779.4(WDR35):c.*1934A>G rs886055399
NM_020779.4(WDR35):c.*1960G>T rs1669835588
NM_020779.4(WDR35):c.*2029GTCT[1] rs566446459
NM_020779.4(WDR35):c.*2239G>A rs1042042509
NM_020779.4(WDR35):c.*2341G>C rs886055397
NM_020779.4(WDR35):c.*2629T>A rs1001737898
NM_020779.4(WDR35):c.*271A>G rs994131640
NM_020779.4(WDR35):c.*2962C>T rs886055393
NM_020779.4(WDR35):c.*2990G>T rs781556463
NM_020779.4(WDR35):c.*635C>T rs1669878199
NM_020779.4(WDR35):c.-15C>T
NM_020779.4(WDR35):c.1004A>G (p.Tyr335Cys)
NM_020779.4(WDR35):c.100G>A (p.Glu34Lys) rs1572375239
NM_020779.4(WDR35):c.1028C>T (p.Thr343Ile)
NM_020779.4(WDR35):c.1040C>A (p.Ala347Glu) rs1228739567
NM_020779.4(WDR35):c.1058G>A (p.Arg353His)
NM_020779.4(WDR35):c.1082G>T (p.Trp361Leu) rs2103444974
NM_020779.4(WDR35):c.1109T>C (p.Val370Ala)
NM_020779.4(WDR35):c.1133C>G (p.Ser378Cys)
NM_020779.4(WDR35):c.1154T>G (p.Phe385Cys)
NM_020779.4(WDR35):c.1194+18T>G
NM_020779.4(WDR35):c.1204G>A (p.Val402Ile)
NM_020779.4(WDR35):c.1211G>C (p.Cys404Ser)
NM_020779.4(WDR35):c.1228C>T (p.Pro410Ser)
NM_020779.4(WDR35):c.1231T>G (p.Leu411Val) rs1418266904
NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu) rs368497711
NM_020779.4(WDR35):c.1326A>G (p.Gln442=)
NM_020779.4(WDR35):c.1331G>A (p.Arg444His)
NM_020779.4(WDR35):c.1339A>G (p.Lys447Glu)
NM_020779.4(WDR35):c.1366C>G (p.Gln456Glu)
NM_020779.4(WDR35):c.1392G>T (p.Gly464=) rs1476590827
NM_020779.4(WDR35):c.1400+16C>G
NM_020779.4(WDR35):c.1400+6del
NM_020779.4(WDR35):c.140C>T (p.Thr47Ile)
NM_020779.4(WDR35):c.141A>G (p.Thr47=)
NM_020779.4(WDR35):c.143-17GTTTT[2]
NM_020779.4(WDR35):c.1437G>A (p.Met479Ile)
NM_020779.4(WDR35):c.145G>T (p.Asp49Tyr)
NM_020779.4(WDR35):c.1507G>C (p.Asp503His)
NM_020779.4(WDR35):c.1520T>G (p.Ile507Ser)
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys) rs1462353387
NM_020779.4(WDR35):c.1540A>G (p.Thr514Ala) rs2103417008
NM_020779.4(WDR35):c.1570G>A (p.Gly524Ser) rs2103416923
NM_020779.4(WDR35):c.1609C>G (p.Gln537Glu) rs1416766008
NM_020779.4(WDR35):c.1645A>G (p.Ile549Val)
NM_020779.4(WDR35):c.1650A>C (p.Ile550=)
NM_020779.4(WDR35):c.1651_1652insCAG (p.Ile550_Asp551insAla)
NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu)
NM_020779.4(WDR35):c.1715A>G (p.Gln572Arg)
NM_020779.4(WDR35):c.1745G>A (p.Arg582Gln)
NM_020779.4(WDR35):c.1753G>A (p.Val585Ile) rs748998292
NM_020779.4(WDR35):c.1846-7T>A rs1479233566
NM_020779.4(WDR35):c.1862C>A (p.Ser621Tyr)
NM_020779.4(WDR35):c.1866A>G (p.Gly622=) rs2103410659
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)
NM_020779.4(WDR35):c.1906C>A (p.Leu636Ile)
NM_020779.4(WDR35):c.1937A>G (p.His646Arg)
NM_020779.4(WDR35):c.1954C>G (p.Leu652Val)
NM_020779.4(WDR35):c.1985A>G (p.Asp662Gly)
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)
NM_020779.4(WDR35):c.2029C>G (p.Gln677Glu) rs775076264
NM_020779.4(WDR35):c.2045A>G (p.Asn682Ser)
NM_020779.4(WDR35):c.2064-3A>C
NM_020779.4(WDR35):c.208C>G (p.His70Asp)
NM_020779.4(WDR35):c.2116C>A (p.Gln706Lys) rs2103405475
NM_020779.4(WDR35):c.2129G>A (p.Arg710His) rs370797645
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu) rs370797645
NM_020779.4(WDR35):c.2135A>G (p.Lys712Arg)
NM_020779.4(WDR35):c.213T>A (p.Ser71Arg)
NM_020779.4(WDR35):c.2149A>C (p.Ile717Leu) rs144493712
NM_020779.4(WDR35):c.2175A>C (p.Lys725Asn)
NM_020779.4(WDR35):c.2191A>G (p.Met731Val)
NM_020779.4(WDR35):c.2193G>C (p.Met731Ile)
NM_020779.4(WDR35):c.2198A>G (p.Gln733Arg)
NM_020779.4(WDR35):c.2213G>T (p.Gly738Val)
NM_020779.4(WDR35):c.2221G>A (p.Gly741Ser)
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)
NM_020779.4(WDR35):c.2272C>G (p.Leu758Val) rs1670697417
NM_020779.4(WDR35):c.2287C>T (p.Arg763Trp)
NM_020779.4(WDR35):c.2288G>A (p.Arg763Gln) rs1670696748
NM_020779.4(WDR35):c.2326C>G (p.Leu776Val)
NM_020779.4(WDR35):c.2345A>G (p.Asp782Gly)
NM_020779.4(WDR35):c.2350G>A (p.Asp784Asn)
NM_020779.4(WDR35):c.2356A>C (p.Ser786Arg) rs748153278
NM_020779.4(WDR35):c.2358T>A (p.Ser786Arg)
NM_020779.4(WDR35):c.2383A>G (p.Ile795Val)
NM_020779.4(WDR35):c.24+4A>G rs780961583
NM_020779.4(WDR35):c.2400T>C (p.Ala800=) rs886055404
NM_020779.4(WDR35):c.2408A>G (p.Gln803Arg) rs2103403345
NM_020779.4(WDR35):c.2411A>T (p.Lys804Met)
NM_020779.4(WDR35):c.2414+4T>C
NM_020779.4(WDR35):c.2421T>G (p.Asn807Lys)
NM_020779.4(WDR35):c.2425G>T (p.Val809Leu)
NM_020779.4(WDR35):c.2455G>A (p.Glu819Lys) rs768049606
NM_020779.4(WDR35):c.2459G>A (p.Arg820His)
NM_020779.4(WDR35):c.2471G>A (p.Cys824Tyr)
NM_020779.4(WDR35):c.2479A>G (p.Met827Val)
NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)
NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys) rs886055403
NM_020779.4(WDR35):c.2513C>G (p.Ala838Gly)
NM_020779.4(WDR35):c.2547+8T>A
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)
NM_020779.4(WDR35):c.2559A>T (p.Gln853His)
NM_020779.4(WDR35):c.2575G>C (p.Gly859Arg) rs2103399882
NM_020779.4(WDR35):c.2576G>T (p.Gly859Val)
NM_020779.4(WDR35):c.259A>T (p.Thr87Ser) rs2103463081
NM_020779.4(WDR35):c.2614A>C (p.Ser872Arg)
NM_020779.4(WDR35):c.2636A>G (p.Asp879Gly)
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val) rs1670554390
NM_020779.4(WDR35):c.2686A>G (p.Asn896Asp)
NM_020779.4(WDR35):c.2701G>C (p.Glu901Gln)
NM_020779.4(WDR35):c.273A>G (p.Glu91=) rs1558360162
NM_020779.4(WDR35):c.2746A>G (p.Lys916Glu) rs2103398404
NM_020779.4(WDR35):c.2789A>G (p.Asn930Ser)
NM_020779.4(WDR35):c.2798T>C (p.Phe933Ser) rs2103398314
NM_020779.4(WDR35):c.2800G>A (p.Asp934Asn) rs376786810
NM_020779.4(WDR35):c.2813T>C (p.Leu938Pro)
NM_020779.4(WDR35):c.2823+6_2823+298delinsAAA
NM_020779.4(WDR35):c.2823G>A (p.Lys941=) rs2103398260
NM_020779.4(WDR35):c.2828C>T (p.Ala943Val)
NM_020779.4(WDR35):c.2870A>T (p.Lys957Met)
NM_020779.4(WDR35):c.2874G>T (p.Lys958Asn) rs1558328135
NM_020779.4(WDR35):c.2875C>T (p.Leu959Phe)
NM_020779.4(WDR35):c.2918A>C (p.Gln973Pro)
NM_020779.4(WDR35):c.2956A>G (p.Ser986Gly) rs886055402
NM_020779.4(WDR35):c.2960C>T (p.Ser987Leu) rs750968053
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG
NM_020779.4(WDR35):c.2965-16C>T
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala) rs1184414721
NM_020779.4(WDR35):c.297G>A (p.Met99Ile) rs779065567
NM_020779.4(WDR35):c.2980G>T (p.Ala994Ser)
NM_020779.4(WDR35):c.2993AAG[2] (p.Glu1000del) rs746953019
NM_020779.4(WDR35):c.3020G>A (p.Arg1007His)
NM_020779.4(WDR35):c.3022T>C (p.Phe1008Leu)
NM_020779.4(WDR35):c.3026C>T (p.Thr1009Ile) rs201153804
NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro)
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_020779.4(WDR35):c.307+20A>G
NM_020779.4(WDR35):c.308-18T>C
NM_020779.4(WDR35):c.308G>C (p.Gly103Ala) rs886055406
NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)
NM_020779.4(WDR35):c.3120A>G (p.Thr1040=)
NM_020779.4(WDR35):c.3122-11G>A
NM_020779.4(WDR35):c.3138C>G (p.Asp1046Glu)
NM_020779.4(WDR35):c.3157C>T (p.Pro1053Ser)
NM_020779.4(WDR35):c.3278A>G (p.Gln1093Arg)
NM_020779.4(WDR35):c.3281A>G (p.Tyr1094Cys)
NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)
NM_020779.4(WDR35):c.3289C>G (p.Leu1097Val)
NM_020779.4(WDR35):c.32T>G (p.Ile11Ser)
NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu)
NM_020779.4(WDR35):c.3340G>A (p.Glu1114Lys) rs2103378015
NM_020779.4(WDR35):c.3362+6C>T
NM_020779.4(WDR35):c.3363-29_3363-18del rs1270558293
NM_020779.4(WDR35):c.3363-2A>C
NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg) rs1558317812
NM_020779.4(WDR35):c.3387C>T (p.Cys1129=)
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu) rs1558317742
NM_020779.4(WDR35):c.3427A>T (p.Met1143Leu)
NM_020779.4(WDR35):c.3434G>A (p.Ser1145Asn)
NM_020779.4(WDR35):c.3438A>G (p.Val1146=)
NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg)
NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)
NM_020779.4(WDR35):c.3449G>A (p.Gly1150Asp)
NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe)
NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg)
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala) rs1669900626
NM_020779.4(WDR35):c.356G>T (p.Arg119Leu)
NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)
NM_020779.4(WDR35):c.376G>A (p.Asp126Asn)
NM_020779.4(WDR35):c.419T>C (p.Ile140Thr)
NM_020779.4(WDR35):c.436+4A>G rs1672290200
NM_020779.4(WDR35):c.43G>C (p.Val15Leu)
NM_020779.4(WDR35):c.442C>T (p.Arg148Cys)
NM_020779.4(WDR35):c.469A>G (p.Ile157Val)
NM_020779.4(WDR35):c.496G>A (p.Ala166Thr)
NM_020779.4(WDR35):c.497C>T (p.Ala166Val) rs374556044
NM_020779.4(WDR35):c.498G>A (p.Ala166=)
NM_020779.4(WDR35):c.535G>A (p.Glu179Lys)
NM_020779.4(WDR35):c.571-11A>G
NM_020779.4(WDR35):c.590G>A (p.Cys197Tyr)
NM_020779.4(WDR35):c.593T>C (p.Leu198Ser)
NM_020779.4(WDR35):c.595G>C (p.Val199Leu)
NM_020779.4(WDR35):c.5TCT[1] (p.Phe3del)
NM_020779.4(WDR35):c.613A>G (p.Ile205Val)
NM_020779.4(WDR35):c.629T>C (p.Ile210Thr)
NM_020779.4(WDR35):c.641A>G (p.His214Arg)
NM_020779.4(WDR35):c.658G>A (p.Val220Met) rs746602378
NM_020779.4(WDR35):c.658G>T (p.Val220Leu)
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala) rs1553322982
NM_020779.4(WDR35):c.717G>A (p.Met239Ile)
NM_020779.4(WDR35):c.721C>T (p.His241Tyr)
NM_020779.4(WDR35):c.731A>G (p.Asp244Gly)
NM_020779.4(WDR35):c.737A>G (p.Asn246Ser)
NM_020779.4(WDR35):c.739C>A (p.Pro247Thr)
NM_020779.4(WDR35):c.739C>T (p.Pro247Ser)
NM_020779.4(WDR35):c.752A>G (p.Asp251Gly)
NM_020779.4(WDR35):c.788A>G (p.His263Arg)
NM_020779.4(WDR35):c.796A>G (p.Ser266Gly)
NM_020779.4(WDR35):c.829G>A (p.Ala277Thr)
NM_020779.4(WDR35):c.82T>A (p.Phe28Ile)
NM_020779.4(WDR35):c.837G>C (p.Gln279His) rs764069624
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)
NM_020779.4(WDR35):c.901G>T (p.Val301Phe)
NM_020779.4(WDR35):c.920C>T (p.Ser307Phe)
NM_020779.4(WDR35):c.964G>A (p.Val322Ile)
NM_021783.5(EDA2R):c.253del (p.Asp85fs) rs515726133
NM_022336.4(EDAR):c.*1181C>T rs886054741
NM_022336.4(EDAR):c.*1199C>T rs372575462
NM_022336.4(EDAR):c.*1226A>C rs886054740
NM_022336.4(EDAR):c.*1319C>G rs886054739
NM_022336.4(EDAR):c.*1535C>T rs886054738
NM_022336.4(EDAR):c.*1563C>T rs1696563393
NM_022336.4(EDAR):c.*1647C>T rs1696561495
NM_022336.4(EDAR):c.*2016G>C rs1436268689
NM_022336.4(EDAR):c.*2376T>C rs1696543184
NM_022336.4(EDAR):c.*447T>C rs1264182094
NM_022336.4(EDAR):c.*485C>T rs970440390
NM_022336.4(EDAR):c.*486G>A rs1386736657
NM_022336.4(EDAR):c.*546C>T rs1696591208
NM_022336.4(EDAR):c.*714T>G rs1348733331
NM_022336.4(EDAR):c.*791A>T rs1696582725
NM_022336.4(EDAR):c.*867A>G rs967989414
NM_022336.4(EDAR):c.*976A>G rs142529386
NM_022336.4(EDAR):c.-129G>T rs886054747
NM_022336.4(EDAR):c.-235G>A rs886054749
NM_022336.4(EDAR):c.-30A>C rs886054746
NM_022336.4(EDAR):c.-4G>A rs886054745
NM_022336.4(EDAR):c.1018G>A (p.Val340Met)
NM_022336.4(EDAR):c.1029T>C (p.Leu343=) rs1020417678
NM_022336.4(EDAR):c.1037C>A (p.Thr346Lys)
NM_022336.4(EDAR):c.1057C>T (p.Leu353Phe)
NM_022336.4(EDAR):c.1061AGA[1] (p.Lys355del) rs1574362124
NM_022336.4(EDAR):c.1094A>G (p.Asn365Ser) rs1696614928
NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro) rs1696613834
NM_022336.4(EDAR):c.1133C>T (p.Ala378Val) rs2105371700
NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser) rs1574361959
NM_022336.4(EDAR):c.1148T>C (p.Leu383Pro)
NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del)
NM_022336.4(EDAR):c.1183A>G (p.Met395Val) rs537348349
NM_022336.4(EDAR):c.1198C>G (p.Arg400Gly)
NM_022336.4(EDAR):c.1199G>C (p.Arg400Pro)
NM_022336.4(EDAR):c.1202T>A (p.Ile401Asn)
NM_022336.4(EDAR):c.1246G>A (p.Val416Met)
NM_022336.4(EDAR):c.1264G>A (p.Asp422Asn) rs1388587376
NM_022336.4(EDAR):c.1264G>T (p.Asp422Tyr)
NM_022336.4(EDAR):c.1270G>A (p.Val424Met) rs1696609331
NM_022336.4(EDAR):c.1273G>A (p.Glu425Lys) rs2105371442
NM_022336.4(EDAR):c.1280T>G (p.Leu427Trp)
NM_022336.4(EDAR):c.1284T>G (p.Cys428Trp) rs886041005
NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn) rs886054744
NM_022336.4(EDAR):c.141C>G (p.Cys47Trp) rs1697337524
NM_022336.4(EDAR):c.146C>G (p.Pro49Arg)
NM_022336.4(EDAR):c.155C>T (p.Pro52Leu)
NM_022336.4(EDAR):c.158G>A (p.Gly53Glu)
NM_022336.4(EDAR):c.166C>T (p.Pro56Ser) rs1553448523
NM_022336.4(EDAR):c.202_203insGCTACGGCACCAAAGACGAAG (p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu)
NM_022336.4(EDAR):c.259T>G (p.Cys87Gly)
NM_022336.4(EDAR):c.275A>G (p.Asp92Gly) rs752810615
NM_022336.4(EDAR):c.328G>A (p.Asp110Asn) rs1574385383
NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys) rs1697188444
NM_022336.4(EDAR):c.397A>C (p.Met133Leu)
NM_022336.4(EDAR):c.442+5del
NM_022336.4(EDAR):c.575T>G (p.Met192Arg) rs1696920527
NM_022336.4(EDAR):c.656-11TC[2]
NM_022336.4(EDAR):c.656-1G>A rs1558802058
NM_022336.4(EDAR):c.731-20A>G
NM_022336.4(EDAR):c.803+4T>G rs777577152
NM_022336.4(EDAR):c.826A>G (p.Asn276Asp) rs2105394216
NM_022336.4(EDAR):c.849C>A (p.Ser283Arg) rs145796324
NM_022336.4(EDAR):c.857G>C (p.Ser286Thr)
NM_022336.4(EDAR):c.893C>G (p.Pro298Arg)
NM_022336.4(EDAR):c.911C>T (p.Ser304Leu)
NM_022336.4(EDAR):c.93C>G (p.Cys31Trp)
NM_022336.4(EDAR):c.94G>A (p.Gly32Ser) rs201793571
NM_022336.4(EDAR):c.961G>A (p.Gly321Arg)
NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile) rs1437958560
NM_022836.4(DCLRE1B):c.1339A>T (p.Thr447Ser) rs1038661281
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs) rs779442399
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg) rs1558110707
NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro) rs1668897682
NM_022836.4(DCLRE1B):c.190-3C>G rs1242019671
NM_022836.4(DCLRE1B):c.226G>C (p.Glu76Gln) rs776471212
NM_022836.4(DCLRE1B):c.253A>G (p.Ile85Val) rs761321321
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile) rs755192360
NM_022836.4(DCLRE1B):c.341C>G (p.Thr114Ser) rs2101068175
NM_022836.4(DCLRE1B):c.377C>T (p.Ser126Phe) rs1339289910
NM_022836.4(DCLRE1B):c.41A>G (p.Asp14Gly) rs1333588223
NM_022836.4(DCLRE1B):c.447C>G (p.Cys149Trp) rs369389853
NM_022836.4(DCLRE1B):c.508C>T (p.Arg170Ter) rs138603501
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg) rs1553260999
NM_022836.4(DCLRE1B):c.78CTT[2] (p.Phe28del) rs763030449
NM_022836.4(DCLRE1B):c.833C>T (p.Ser278Phe) rs946912356
NM_022836.4(DCLRE1B):c.879G>C (p.Gln293His) rs772803140
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg) rs754841219
NM_022914.2(ACD):c.139delG (p.Arg48Glyfs) rs764120026
NM_022914.2(ACD):c.147_149CCT[4] (p.Leu52_Arg53insLeu)
NM_022914.2(ACD):c.17dup (p.Ser7Glufs)
NM_022914.2(ACD):c.60_72delACCAGCGGGGTGG (p.Trp24Valfs) rs757084527
NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs)
NM_022914.2(ACD):c.96dup (p.Arg34Profs)
NM_024589.2(ROGDI):c.-181G>A rs891502822
NM_024589.2(ROGDI):c.-202delG rs569838251
NM_024589.2(ROGDI):c.-325G>C rs886052040
NM_024589.2(ROGDI):c.-342C>A rs886052041
NM_024589.2(ROGDI):c.-379T>C rs886052042
NM_024589.2(ROGDI):c.-68G>C rs1167973629
NM_024589.2(ROGDI):c.-69C>T rs886052038
NM_024589.2(ROGDI):c.-89G>T rs538342367
NM_024589.3(ROGDI):c.*112C>T rs886052036
NM_024589.3(ROGDI):c.*24C>T rs756091670
NM_024589.3(ROGDI):c.*298G>A rs545854112
NM_024589.3(ROGDI):c.*355G>T rs886052035
NM_024589.3(ROGDI):c.112C>G (p.Leu38Val)
NM_024589.3(ROGDI):c.113T>G (p.Leu38Arg) rs1555491894
NM_024589.3(ROGDI):c.117+5C>G rs761951820
NM_024589.3(ROGDI):c.117+5C>T rs761951820
NM_024589.3(ROGDI):c.117+6_117+7delinsAT rs2082742151
NM_024589.3(ROGDI):c.117G>A (p.Lys39=) rs956797047
NM_024589.3(ROGDI):c.117G>T (p.Lys39Asn) rs956797047
NM_024589.3(ROGDI):c.118-10T>A rs2141912884
NM_024589.3(ROGDI):c.11T>A (p.Val4Glu) rs2082747445
NM_024589.3(ROGDI):c.120G>C (p.Glu40Asp)
NM_024589.3(ROGDI):c.137C>G (p.Thr46Ser) rs1200058055
NM_024589.3(ROGDI):c.146G>A (p.Gly49Asp)
NM_024589.3(ROGDI):c.148T>C (p.Ser50Pro)
NM_024589.3(ROGDI):c.158A>G (p.Glu53Gly)
NM_024589.3(ROGDI):c.172C>G (p.Gln58Glu)
NM_024589.3(ROGDI):c.186C>G (p.Ile62Met) rs1216877367
NM_024589.3(ROGDI):c.194G>C (p.Ser65Thr) rs2141912636
NM_024589.3(ROGDI):c.195C>G (p.Ser65Arg)
NM_024589.3(ROGDI):c.197G>A (p.Cys66Tyr) rs1555491559
NM_024589.3(ROGDI):c.1A>G (p.Met1Val) rs2082747732
NM_024589.3(ROGDI):c.202A>C (p.Thr68Pro) rs2082713943
NM_024589.3(ROGDI):c.205G>T (p.Asp69Tyr)
NM_024589.3(ROGDI):c.207C>A (p.Asp69Glu) rs977378578
NM_024589.3(ROGDI):c.234G>T (p.Gln78His) rs767642673
NM_024589.3(ROGDI):c.235G>A (p.Gly79Arg)
NM_024589.3(ROGDI):c.245T>A (p.Leu82His) rs773049349
NM_024589.3(ROGDI):c.257A>T (p.Asp86Val) rs774073956
NM_024589.3(ROGDI):c.25G>A (p.Ala9Thr) rs2141915981
NM_024589.3(ROGDI):c.260T>G (p.Val87Gly) rs1477391414
NM_024589.3(ROGDI):c.265C>A (p.Leu89Met) rs2082702685
NM_024589.3(ROGDI):c.277C>T (p.Arg93Trp) rs780503540
NM_024589.3(ROGDI):c.278G>A (p.Arg93Gln)
NM_024589.3(ROGDI):c.295C>T (p.His99Tyr)
NM_024589.3(ROGDI):c.296A>G (p.His99Arg)
NM_024589.3(ROGDI):c.2T>C (p.Met1Thr) rs2082747688
NM_024589.3(ROGDI):c.300C>A (p.Phe100Leu) rs371657994
NM_024589.3(ROGDI):c.305T>C (p.Phe102Ser) rs2141910617
NM_024589.3(ROGDI):c.317A>G (p.Lys106Arg) rs545861164
NM_024589.3(ROGDI):c.319C>G (p.Gln107Glu) rs1211419981
NM_024589.3(ROGDI):c.325A>G (p.Lys109Glu)
NM_024589.3(ROGDI):c.327G>T (p.Lys109Asn) rs888611327
NM_024589.3(ROGDI):c.336+3G>A rs765836538
NM_024589.3(ROGDI):c.336+5C>T rs2141910504
NM_024589.3(ROGDI):c.336+6C>T rs1555491410
NM_024589.3(ROGDI):c.337-16T>A rs2141909472
NM_024589.3(ROGDI):c.35G>T (p.Arg12Leu) rs2141915953
NM_024589.3(ROGDI):c.367G>A (p.Ala123Thr)
NM_024589.3(ROGDI):c.386G>A (p.Ser129Asn)
NM_024589.3(ROGDI):c.389G>C (p.Arg130Pro) rs374603311
NM_024589.3(ROGDI):c.392A>C (p.Asp131Ala) rs2082694603
NM_024589.3(ROGDI):c.408C>A (p.Phe136Leu)
NM_024589.3(ROGDI):c.413C>G (p.Thr138Arg) rs540638420
NM_024589.3(ROGDI):c.413C>T (p.Thr138Met)
NM_024589.3(ROGDI):c.416G>A (p.Gly139Asp) rs1567600743
NM_024589.3(ROGDI):c.421G>A (p.Glu141Lys)
NM_024589.3(ROGDI):c.423G>C (p.Glu141Asp) rs758200466
NM_024589.3(ROGDI):c.424G>T (p.Val142Phe) rs1255273555
NM_024589.3(ROGDI):c.433-6C>G rs1892013977
NM_024589.3(ROGDI):c.436A>T (p.Met146Leu) rs886052037
NM_024589.3(ROGDI):c.46-5C>G rs540065993
NM_024589.3(ROGDI):c.465A>C (p.Arg155Ser) rs1367837038
NM_024589.3(ROGDI):c.467C>T (p.Ala156Val) rs2141907538
NM_024589.3(ROGDI):c.46G>C (p.Glu16Gln) rs2082744243
NM_024589.3(ROGDI):c.485C>T (p.Thr162Ile) rs754416466
NM_024589.3(ROGDI):c.503T>A (p.Leu168His) rs1465183649
NM_024589.3(ROGDI):c.530C>A (p.Thr177Lys) rs571018862
NM_024589.3(ROGDI):c.530C>T (p.Thr177Met) rs571018862
NM_024589.3(ROGDI):c.531+5G>T
NM_024589.3(ROGDI):c.532C>T (p.Arg178Trp)
NM_024589.3(ROGDI):c.533G>T (p.Arg178Leu) rs751703075
NM_024589.3(ROGDI):c.548C>T (p.Ala183Val) rs1306134473
NM_024589.3(ROGDI):c.554C>G (p.Pro185Arg) rs1212858197
NM_024589.3(ROGDI):c.558C>A (p.Ser186=)
NM_024589.3(ROGDI):c.559G>C (p.Asp187His) rs773589345
NM_024589.3(ROGDI):c.562C>G (p.Leu188Val)
NM_024589.3(ROGDI):c.569T>C (p.Val190Ala) rs1567598260
NM_024589.3(ROGDI):c.575T>A (p.Val192Asp)
NM_024589.3(ROGDI):c.577_578delinsAG (p.Tyr193Ser) rs2141906440
NM_024589.3(ROGDI):c.578A>T (p.Tyr193Phe) rs80033521
NM_024589.3(ROGDI):c.580A>G (p.Ile194Val) rs2141906428
NM_024589.3(ROGDI):c.584A>T (p.Asn195Ile) rs201116642
NM_024589.3(ROGDI):c.586C>T (p.Leu196Phe)
NM_024589.3(ROGDI):c.590A>G (p.Asn197Ser) rs1567598164
NM_024589.3(ROGDI):c.595C>T (p.Leu199Phe)
NM_024589.3(ROGDI):c.599G>T (p.Cys200Phe) rs2082676635
NM_024589.3(ROGDI):c.5C>T (p.Ala2Val)
NM_024589.3(ROGDI):c.605C>G (p.Thr202Arg) rs2082676560
NM_024589.3(ROGDI):c.605C>T (p.Thr202Met) rs2082676560
NM_024589.3(ROGDI):c.607G>C (p.Val203Leu)
NM_024589.3(ROGDI):c.616C>G (p.Leu206Val) rs1384897869
NM_024589.3(ROGDI):c.637T>G (p.Ser213Ala)
NM_024589.3(ROGDI):c.63G>C (p.Trp21Cys) rs1335552191
NM_024589.3(ROGDI):c.645+4A>C rs1596274931
NM_024589.3(ROGDI):c.652C>T (p.Arg218Cys) rs1232072886
NM_024589.3(ROGDI):c.653G>A (p.Arg218His) rs747891068
NM_024589.3(ROGDI):c.658G>T (p.Ala220Ser) rs546063670
NM_024589.3(ROGDI):c.661G>A (p.Gly221Arg) rs757872277
NM_024589.3(ROGDI):c.667G>A (p.Ala223Thr) rs756917973
NM_024589.3(ROGDI):c.677A>G (p.His226Arg)
NM_024589.3(ROGDI):c.68T>C (p.Leu23Pro) rs1334307149
NM_024589.3(ROGDI):c.692T>C (p.Met231Thr) rs1437175362
NM_024589.3(ROGDI):c.695+5G>A rs1567597416
NM_024589.3(ROGDI):c.695+6T>C rs2082672876
NM_024589.3(ROGDI):c.695dup (p.Glu233fs)
NM_024589.3(ROGDI):c.700T>G (p.Trp234Gly) rs1252887236
NM_024589.3(ROGDI):c.707C>G (p.Ser236Cys) rs2141905479
NM_024589.3(ROGDI):c.725G>C (p.Ser242Thr) rs774473916
NM_024589.3(ROGDI):c.727C>G (p.His243Asp) rs2082670659
NM_024589.3(ROGDI):c.734A>G (p.His245Arg) rs2082670531
NM_024589.3(ROGDI):c.742G>C (p.Glu248Gln) rs2141905379
NM_024589.3(ROGDI):c.748G>C (p.Val250Leu) rs749565672
NM_024589.3(ROGDI):c.751A>G (p.Ile251Val) rs2082670325
NM_024589.3(ROGDI):c.754C>A (p.Pro252Thr)
NM_024589.3(ROGDI):c.765C>G (p.Asn255Lys) rs144724709
NM_024589.3(ROGDI):c.769G>A (p.Ala257Thr) rs752895075
NM_024589.3(ROGDI):c.76G>C (p.Glu26Gln) rs868321489
NM_024589.3(ROGDI):c.775_795dup (p.Val259_Leu265dup) rs1567596763
NM_024589.3(ROGDI):c.785C>T (p.Thr262Ile)
NM_024589.3(ROGDI):c.78G>T (p.Glu26Asp) rs145718534
NM_024589.3(ROGDI):c.793C>A (p.Leu265Met) rs746176256
NM_024589.3(ROGDI):c.794T>G (p.Leu265Arg) rs771427647
NM_024589.3(ROGDI):c.805C>T (p.Gln269Ter) rs755209314
NM_024589.3(ROGDI):c.819C>G (p.Asp273Glu) rs762853362
NM_024589.3(ROGDI):c.823-3C>T
NM_024589.3(ROGDI):c.825C>G (p.Ile275Met) rs752311951
NM_024589.3(ROGDI):c.829G>C (p.Val277Leu) rs759234056
NM_024589.3(ROGDI):c.829G>T (p.Val277Leu) rs759234056
NM_024589.3(ROGDI):c.82C>T (p.His28Tyr)
NM_024589.3(ROGDI):c.836C>T (p.Ser279Phe) rs765616394
NM_024589.3(ROGDI):c.839G>T (p.Ser280Ile)
NM_024589.3(ROGDI):c.83A>C (p.His28Pro) rs2141915506
NM_024589.3(ROGDI):c.844T>C (p.Trp282Arg)
NM_024589.3(ROGDI):c.856C>G (p.Pro286Ala) rs2082664303
NM_024589.3(ROGDI):c.85G>C (p.Ala29Pro)
NM_024589.3(ROGDI):c.86C>G (p.Ala29Gly)
NM_024589.3(ROGDI):c.86C>T (p.Ala29Val) rs987992601
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met) rs370196002
NM_025099.6(CTC1):c.*1052T>G rs201297846
NM_025099.6(CTC1):c.*1053T>C rs1158073985
NM_025099.6(CTC1):c.*1102C>T rs3027249
NM_025099.6(CTC1):c.*1107A>G rs573286497
NM_025099.6(CTC1):c.*1134G>A rs754222087
NM_025099.6(CTC1):c.*1148C>A rs534594967
NM_025099.6(CTC1):c.*1188C>T rs562025086
NM_025099.6(CTC1):c.*1191T>A rs540304901
NM_025099.6(CTC1):c.*1191T>C rs540304901
NM_025099.6(CTC1):c.*1308T>A rs574820085
NM_025099.6(CTC1):c.*1420A>T rs533674362
NM_025099.6(CTC1):c.*1473C>G rs377086928
NM_025099.6(CTC1):c.*1478C>A rs146427367
NM_025099.6(CTC1):c.*1479C>T rs796651282
NM_025099.6(CTC1):c.*1517G>A rs998188449
NM_025099.6(CTC1):c.*1531T>C rs558571255
NM_025099.6(CTC1):c.*1542C>G rs886053599
NM_025099.6(CTC1):c.*1569C>T rs138405975
NM_025099.6(CTC1):c.*1600T>A rs751150794
NM_025099.6(CTC1):c.*1603T>A rs763671822
NM_025099.6(CTC1):c.*1792G>A rs886053595
NM_025099.6(CTC1):c.*1807G>C rs3027251
NM_025099.6(CTC1):c.*1844G>C rs3027252
NM_025099.6(CTC1):c.*1856C>T rs145845338
NM_025099.6(CTC1):c.*1857C>T rs886053594
NM_025099.6(CTC1):c.*1867G>A rs961793089
NM_025099.6(CTC1):c.*1868C>A rs535981109
NM_025099.6(CTC1):c.*1900C>A rs1567590998
NM_025099.6(CTC1):c.*1913A>G rs1045049738
NM_025099.6(CTC1):c.*1933C>T rs752512394
NM_025099.6(CTC1):c.*2013G>A rs886053590
NM_025099.6(CTC1):c.*2070G>A rs772156574
NM_025099.6(CTC1):c.*2090G>A rs1033226989
NM_025099.6(CTC1):c.*2242G>A rs868833357
NM_025099.6(CTC1):c.*2425T>C rs1986579685
NM_025099.6(CTC1):c.*2498G>A rs952734766
NM_025099.6(CTC1):c.*2536C>T rs1656306673
NM_025099.6(CTC1):c.*2725T>A rs1986555540
NM_025099.6(CTC1):c.*274C>T rs533383004
NM_025099.6(CTC1):c.*2784G>A rs886053587
NM_025099.6(CTC1):c.*2926G>C rs934312840
NM_025099.6(CTC1):c.*3198G>T rs568877108
NM_025099.6(CTC1):c.*429C>T rs1286225682
NM_025099.6(CTC1):c.*65C>A rs886053608
NM_025099.6(CTC1):c.*663G>A rs183099496
NM_025099.6(CTC1):c.*808G>A rs1986816320
NM_025099.6(CTC1):c.1003C>T (p.Pro335Ser)
NM_025099.6(CTC1):c.1009C>G (p.Pro337Ala) rs2151523075
NM_025099.6(CTC1):c.1019C>G (p.Ser340Trp) rs771874794
NM_025099.6(CTC1):c.1019C>T (p.Ser340Leu)
NM_025099.6(CTC1):c.1026C>G (p.Asp342Glu) rs776408496
NM_025099.6(CTC1):c.1036C>G (p.Pro346Ala) rs2151522938
NM_025099.6(CTC1):c.1036C>T (p.Pro346Ser) rs2151522938
NM_025099.6(CTC1):c.1046T>G (p.Leu349Arg) rs2151522868
NM_025099.6(CTC1):c.1054T>C (p.Tyr352His)
NM_025099.6(CTC1):c.1059T>C (p.Ser353=)
NM_025099.6(CTC1):c.1064T>C (p.Leu355Pro)
NM_025099.6(CTC1):c.1077G>A (p.Ser359=) rs767741611
NM_025099.6(CTC1):c.1077G>T (p.Ser359=)
NM_025099.6(CTC1):c.1078-4_1078-3delinsTT rs2151522382
NM_025099.6(CTC1):c.1084G>C (p.Val362Leu)
NM_025099.6(CTC1):c.1085T>A (p.Val362Asp)
NM_025099.6(CTC1):c.1093G>A (p.Val365Met) rs753519460
NM_025099.6(CTC1):c.1108G>C (p.Ala370Pro)
NM_025099.6(CTC1):c.1111G>A (p.Gly371Ser)
NM_025099.6(CTC1):c.1115T>C (p.Leu372Pro)
NM_025099.6(CTC1):c.1118A>G (p.Tyr373Cys) rs2151522187
NM_025099.6(CTC1):c.1120G>A (p.Glu374Lys) rs1987674659
NM_025099.6(CTC1):c.1133A>G (p.Gln378Arg) rs1987673814
NM_025099.6(CTC1):c.1151C>G (p.Ala384Gly) rs748695989
NM_025099.6(CTC1):c.1151C>T (p.Ala384Val)
NM_025099.6(CTC1):c.1171C>T (p.Leu391Phe)
NM_025099.6(CTC1):c.1185_1186delinsAG (p.Met395_Arg396delinsIleGly) rs1987666643
NM_025099.6(CTC1):c.1195G>A (p.Val399Met) rs1197080779
NM_025099.6(CTC1):c.1196T>C (p.Val399Ala)
NM_025099.6(CTC1):c.1198T>C (p.Cys400Arg)
NM_025099.6(CTC1):c.119C>T (p.Pro40Leu)
NM_025099.6(CTC1):c.1206+5G>A
NM_025099.6(CTC1):c.1207C>G (p.Leu403Val)
NM_025099.6(CTC1):c.1211A>G (p.Gln404Arg)
NM_025099.6(CTC1):c.1212G>C (p.Gln404His)
NM_025099.6(CTC1):c.1231T>A (p.Ser411Thr) rs765850921
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu) rs62624978
NM_025099.6(CTC1):c.1261C>G (p.Leu421Val)
NM_025099.6(CTC1):c.1270T>G (p.Cys424Gly)
NM_025099.6(CTC1):c.1280G>T (p.Gly427Val) rs781203515
NM_025099.6(CTC1):c.1283C>T (p.Ala428Val) rs2151520028
NM_025099.6(CTC1):c.1284_1285delinsTT (p.Val429Phe) rs2151520002
NM_025099.6(CTC1):c.128T>C (p.Ile43Thr)
NM_025099.6(CTC1):c.1300T>A (p.Phe434Ile)
NM_025099.6(CTC1):c.1300T>C (p.Phe434Leu) rs761520320
NM_025099.6(CTC1):c.1316C>T (p.Pro439Leu) rs2151519873
NM_025099.6(CTC1):c.1325A>T (p.His442Leu)
NM_025099.6(CTC1):c.1328C>T (p.Ser443Leu)
NM_025099.6(CTC1):c.1331C>T (p.Ser444Phe) rs1987600358
NM_025099.6(CTC1):c.1334G>A (p.Arg445His) rs768361173
NM_025099.6(CTC1):c.1339G>A (p.Ala447Thr) rs1223603855
NM_025099.6(CTC1):c.1348G>A (p.Ala450Thr) rs778433916
NM_025099.6(CTC1):c.1375G>C (p.Glu459Gln)
NM_025099.6(CTC1):c.1383G>T (p.Gln461His) rs145192682
NM_025099.6(CTC1):c.1397T>A (p.Leu466His)
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly) rs201280372
NM_025099.6(CTC1):c.1400A>G (p.Tyr467Cys) rs1987589226
NM_025099.6(CTC1):c.1439A>G (p.Lys480Arg)
NM_025099.6(CTC1):c.1440-5C>T rs1987573771
NM_025099.6(CTC1):c.1440G>T (p.Lys480Asn) rs770798986
NM_025099.6(CTC1):c.1466A>C (p.His489Pro)
NM_025099.6(CTC1):c.1480C>T (p.His494Tyr)
NM_025099.6(CTC1):c.1481A>G (p.His494Arg)
NM_025099.6(CTC1):c.1490C>T (p.Pro497Leu)
NM_025099.6(CTC1):c.1496G>A (p.Ser499Asn)
NM_025099.6(CTC1):c.1498C>G (p.Pro500Ala) rs1359625369
NM_025099.6(CTC1):c.149_150delinsTT (p.Trp50Phe)
NM_025099.6(CTC1):c.14G>A (p.Arg5Gln) rs1449419140
NM_025099.6(CTC1):c.1554C>T (p.Gly518=)
NM_025099.6(CTC1):c.1564C>G (p.Arg522Gly) rs199698527
NM_025099.6(CTC1):c.1576A>G (p.Asn526Asp) rs2151518271
NM_025099.6(CTC1):c.1585C>T (p.Leu529Phe) rs201560353
NM_025099.6(CTC1):c.1588G>A (p.Glu530Lys)
NM_025099.6(CTC1):c.1597C>G (p.His533Asp) rs1302748336
NM_025099.6(CTC1):c.1597C>T (p.His533Tyr)
NM_025099.6(CTC1):c.1602C>A (p.His534Gln) rs1421770599
NM_025099.6(CTC1):c.1617+5G>A
NM_025099.6(CTC1):c.1617A>G (p.Lys539=)
NM_025099.6(CTC1):c.1625G>C (p.Arg542Pro)
NM_025099.6(CTC1):c.1632G>T (p.Gln544His)
NM_025099.6(CTC1):c.164G>A (p.Arg55Lys) rs2151545851
NM_025099.6(CTC1):c.1667AAG[2] (p.Glu558del) rs756079894
NM_025099.6(CTC1):c.1669G>A (p.Glu557Lys) rs1987533999
NM_025099.6(CTC1):c.166A>C (p.Asn56His)
NM_025099.6(CTC1):c.1679A>G (p.Gln560Arg)
NM_025099.6(CTC1):c.1681C>A (p.Arg561Ser) rs202212634
NM_025099.6(CTC1):c.1682G>C (p.Arg561Pro) rs373690929
NM_025099.6(CTC1):c.1688C>T (p.Ala563Val)
NM_025099.6(CTC1):c.1693G>A (p.Ala565Thr) rs2151517418
NM_025099.6(CTC1):c.1697C>T (p.Ser566Phe)
NM_025099.6(CTC1):c.16G>A (p.Ala6Thr)
NM_025099.6(CTC1):c.16G>T (p.Ala6Ser)
NM_025099.6(CTC1):c.1700T>C (p.Phe567Ser) rs2151517400
NM_025099.6(CTC1):c.1706C>T (p.Pro569Leu)
NM_025099.6(CTC1):c.170A>G (p.Gln57Arg) rs371868360
NM_025099.6(CTC1):c.1721C>T (p.Pro574Leu) rs926565387
NM_025099.6(CTC1):c.1730A>G (p.Glu577Gly)
NM_025099.6(CTC1):c.1733C>T (p.Ala578Val)
NM_025099.6(CTC1):c.173G>A (p.Gly58Asp) rs1988400898
NM_025099.6(CTC1):c.1766G>A (p.Arg589His) rs771224545
NM_025099.6(CTC1):c.1766G>T (p.Arg589Leu)
NM_025099.6(CTC1):c.1778C>T (p.Ser593Phe) rs767152748
NM_025099.6(CTC1):c.1782G>T (p.Trp594Cys) rs2151517027
NM_025099.6(CTC1):c.1787G>C (p.Cys596Ser)
NM_025099.6(CTC1):c.1818+4A>G
NM_025099.6(CTC1):c.1819-7_1819-5del
NM_025099.6(CTC1):c.1825C>G (p.Leu609Val)
NM_025099.6(CTC1):c.1838T>C (p.Val613Ala)
NM_025099.6(CTC1):c.1850A>T (p.His617Leu)
NM_025099.6(CTC1):c.1856G>T (p.Gly619Val) rs1987375790
NM_025099.6(CTC1):c.1859G>A (p.Cys620Tyr) rs766985115
NM_025099.6(CTC1):c.1859G>T (p.Cys620Phe)
NM_025099.6(CTC1):c.1874A>G (p.Asp625Gly)
NM_025099.6(CTC1):c.1879A>G (p.Ser627Gly)
NM_025099.6(CTC1):c.1914C>G (p.His638Gln)
NM_025099.6(CTC1):c.1919A>C (p.Gln640Pro) rs1987370776
NM_025099.6(CTC1):c.191G>A (p.Ser64Asn)
NM_025099.6(CTC1):c.1927A>G (p.Ser643Gly)
NM_025099.6(CTC1):c.1927A>T (p.Ser643Cys)
NM_025099.6(CTC1):c.1940T>A (p.Leu647Gln) rs1342587450
NM_025099.6(CTC1):c.1942A>C (p.Ile648Leu)
NM_025099.6(CTC1):c.1946-11T>G
NM_025099.6(CTC1):c.1946-13T>C
NM_025099.6(CTC1):c.1954G>A (p.Val652Met)
NM_025099.6(CTC1):c.1954G>C (p.Val652Leu)
NM_025099.6(CTC1):c.1960G>A (p.Ala654Thr)
NM_025099.6(CTC1):c.1984G>C (p.Glu662Gln) rs1341299177
NM_025099.6(CTC1):c.1998A>C (p.Arg666Ser) rs757849997
NM_025099.6(CTC1):c.2027G>A (p.Ser676Asn)
NM_025099.6(CTC1):c.2029A>G (p.Met677Val) rs1987321255
NM_025099.6(CTC1):c.2038T>G (p.Phe680Val) rs2151510882
NM_025099.6(CTC1):c.2044C>G (p.Gln682Glu)
NM_025099.6(CTC1):c.2045A>G (p.Gln682Arg)
NM_025099.6(CTC1):c.2050C>G (p.Gln684Glu)
NM_025099.6(CTC1):c.2055G>C (p.Gln685His)
NM_025099.6(CTC1):c.2056G>A (p.Ala686Thr)
NM_025099.6(CTC1):c.2058C>A (p.Ala686=)
NM_025099.6(CTC1):c.2060+12G>A rs1987317835
NM_025099.6(CTC1):c.2060+5G>A
NM_025099.6(CTC1):c.2060+6_2060+13del rs2151510765
NM_025099.6(CTC1):c.2066A>G (p.Tyr689Cys)
NM_025099.6(CTC1):c.2076C>G (p.Phe692Leu) rs369717598
NM_025099.6(CTC1):c.2090C>A (p.Ala697Asp)
NM_025099.6(CTC1):c.20A>T (p.Gln7Leu)
NM_025099.6(CTC1):c.2113C>G (p.Pro705Ala)
NM_025099.6(CTC1):c.2124T>G (p.His708Gln)
NM_025099.6(CTC1):c.2140A>C (p.Thr714Pro) rs1987295113
NM_025099.6(CTC1):c.2147A>G (p.Gln716Arg)
NM_025099.6(CTC1):c.2152G>C (p.Asp718His) rs1458344790
NM_025099.6(CTC1):c.2161G>A (p.Gly721Ser) rs771821232
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser) rs770505786
NM_025099.6(CTC1):c.2202G>C (p.Leu734Phe)
NM_025099.6(CTC1):c.2210A>G (p.His737Arg) rs537646611
NM_025099.6(CTC1):c.222G>C (p.Lys74Asn)
NM_025099.6(CTC1):c.2242G>T (p.Val748Phe)
NM_025099.6(CTC1):c.2253A>G (p.Gly751=) rs1164794062
NM_025099.6(CTC1):c.2258G>A (p.Ser753Asn) rs1987279014
NM_025099.6(CTC1):c.2268G>T (p.Val756=)
NM_025099.6(CTC1):c.226C>A (p.His76Asn)
NM_025099.6(CTC1):c.2276C>T (p.Pro759Leu) rs2151509364
NM_025099.6(CTC1):c.228C>A (p.His76Gln) rs531109382
NM_025099.6(CTC1):c.2294T>C (p.Val765Ala) rs2151509260
NM_025099.6(CTC1):c.22G>C (p.Val8Leu) rs1233799443
NM_025099.6(CTC1):c.2305T>C (p.Trp769Arg)
NM_025099.6(CTC1):c.2327A>G (p.Lys776Arg)
NM_025099.6(CTC1):c.2350C>T (p.Pro784Ser)
NM_025099.6(CTC1):c.2375A>G (p.Asn792Ser) rs1245008176
NM_025099.6(CTC1):c.2379T>A (p.Asp793Glu)
NM_025099.6(CTC1):c.2383A>G (p.Lys795Glu)
NM_025099.6(CTC1):c.2386-18T>G
NM_025099.6(CTC1):c.2395A>G (p.Ile799Val) rs2151508501
NM_025099.6(CTC1):c.2399T>C (p.Phe800Ser) rs752957819
NM_025099.6(CTC1):c.2436C>G (p.His812Gln)
NM_025099.6(CTC1):c.244T>C (p.Cys82Arg) rs1987946472
NM_025099.6(CTC1):c.2453G>T (p.Arg818Leu) rs772328631
NM_025099.6(CTC1):c.2459T>C (p.Ile820Thr)
NM_025099.6(CTC1):c.2471C>G (p.Pro824Arg)
NM_025099.6(CTC1):c.2471C>T (p.Pro824Leu)
NM_025099.6(CTC1):c.2473G>A (p.Ala825Thr) rs915406565
NM_025099.6(CTC1):c.2473G>C (p.Ala825Pro)
NM_025099.6(CTC1):c.2475+3G>A rs1987244042
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822
NM_025099.6(CTC1):c.2492A>G (p.Glu831Gly)
NM_025099.6(CTC1):c.2497G>A (p.Asp833Asn) rs754510180
NM_025099.6(CTC1):c.2497G>T (p.Asp833Tyr)
NM_025099.6(CTC1):c.2507C>G (p.Ser836Cys) rs1987214622
NM_025099.6(CTC1):c.2510G>A (p.Cys837Tyr) rs377390001
NM_025099.6(CTC1):c.2512A>G (p.Ile838Val)
NM_025099.6(CTC1):c.2519G>A (p.Arg840Gln)
NM_025099.6(CTC1):c.2521C>T (p.Arg841Cys) rs747249710
NM_025099.6(CTC1):c.2524C>T (p.Pro842Ser) rs1354260622
NM_025099.6(CTC1):c.2525C>G (p.Pro842Arg)
NM_025099.6(CTC1):c.2527C>A (p.Leu843Met)
NM_025099.6(CTC1):c.2537C>T (p.Ala846Val)
NM_025099.6(CTC1):c.2546C>T (p.Ala849Val) rs1987209622
NM_025099.6(CTC1):c.2570A>G (p.Asn857Ser)
NM_025099.6(CTC1):c.2594C>T (p.Ser865Phe)
NM_025099.6(CTC1):c.2602A>G (p.Ile868Val) rs1555532937
NM_025099.6(CTC1):c.2627A>T (p.Lys876Met)
NM_025099.6(CTC1):c.2638G>A (p.Glu880Lys)
NM_025099.6(CTC1):c.263G>A (p.Ser88Asn) rs1987944023
NM_025099.6(CTC1):c.2651C>T (p.Thr884Ile)
NM_025099.6(CTC1):c.2653G>T (p.Asp885Tyr) rs370102181
NM_025099.6(CTC1):c.2668A>G (p.Asn890Asp)
NM_025099.6(CTC1):c.2670-3C>G rs765650487
NM_025099.6(CTC1):c.2670-3C>T rs765650487
NM_025099.6(CTC1):c.2678A>G (p.Asp893Gly)
NM_025099.6(CTC1):c.2681C>A (p.Ser894Tyr) rs754401174
NM_025099.6(CTC1):c.2699C>T (p.Ala900Val) rs1408453833
NM_025099.6(CTC1):c.269G>A (p.Ser90Asn)
NM_025099.6(CTC1):c.26C>A (p.Pro9His) rs377386669
NM_025099.6(CTC1):c.26C>T (p.Pro9Leu) rs377386669
NM_025099.6(CTC1):c.2704A>G (p.Ile902Val) rs2151504713
NM_025099.6(CTC1):c.2714G>A (p.Arg905Gln)
NM_025099.6(CTC1):c.2727A>C (p.Glu909Asp)
NM_025099.6(CTC1):c.2738C>T (p.Ala913Val) rs771428933
NM_025099.6(CTC1):c.2743C>T (p.Leu915Phe) rs778391511
NM_025099.6(CTC1):c.2749A>G (p.Met917Val)
NM_025099.6(CTC1):c.2750T>G (p.Met917Arg) rs1987130951
NM_025099.6(CTC1):c.2758+4A>G rs754205135
NM_025099.6(CTC1):c.2759-7T>G
NM_025099.6(CTC1):c.2763C>G (p.Asn921Lys)
NM_025099.6(CTC1):c.2775G>T (p.Met925Ile) rs2151504059
NM_025099.6(CTC1):c.2777G>A (p.Arg926Lys)
NM_025099.6(CTC1):c.2783G>A (p.Cys928Tyr) rs373660155
NM_025099.6(CTC1):c.278A>G (p.Gln93Arg)
NM_025099.6(CTC1):c.2809A>T (p.Thr937Ser) rs1370736551
NM_025099.6(CTC1):c.2819G>A (p.Cys940Tyr)
NM_025099.6(CTC1):c.2830C>T (p.Pro944Ser) rs1299588337
NM_025099.6(CTC1):c.2831C>T (p.Pro944Leu) rs1987110819
NM_025099.6(CTC1):c.2835C>A (p.His945Gln)
NM_025099.6(CTC1):c.2865G>T (p.Leu955Phe)
NM_025099.6(CTC1):c.2866C>T (p.Pro956Ser) rs1987108095
NM_025099.6(CTC1):c.2867C>T (p.Pro956Leu) rs1345126351
NM_025099.6(CTC1):c.286G>A (p.Ala96Thr) rs751570124
NM_025099.6(CTC1):c.2881C>G (p.Leu961Val) rs1567600596
NM_025099.6(CTC1):c.2882T>C (p.Leu961Pro)
NM_025099.6(CTC1):c.2888C>G (p.Pro963Arg)
NM_025099.6(CTC1):c.2893G>A (p.Ala965Thr) rs1987104593
NM_025099.6(CTC1):c.2894C>T (p.Ala965Val) rs1987104355
NM_025099.6(CTC1):c.2897G>C (p.Arg966Pro) rs759485791
NM_025099.6(CTC1):c.2908A>G (p.Ser970Gly)
NM_025099.6(CTC1):c.2917G>A (p.Glu973Lys)
NM_025099.6(CTC1):c.2926G>T (p.Val976Phe)
NM_025099.6(CTC1):c.2933+3G>A rs878855127
NM_025099.6(CTC1):c.2934-3C>G
NM_025099.6(CTC1):c.295G>C (p.Ala99Pro) rs2151531876
NM_025099.6(CTC1):c.29C>G (p.Ser10Cys) rs745686555
NM_025099.6(CTC1):c.29C>T (p.Ser10Phe) rs745686555
NM_025099.6(CTC1):c.3004A>G (p.Thr1002Ala) rs1987062062
NM_025099.6(CTC1):c.3011+3C>T rs1316252024
NM_025099.6(CTC1):c.3012-3T>C
NM_025099.6(CTC1):c.3013A>T (p.Ile1005Phe)
NM_025099.6(CTC1):c.3023C>G (p.Pro1008Arg)
NM_025099.6(CTC1):c.3024C>G (p.Pro1008=) rs1987021468
NM_025099.6(CTC1):c.3028A>C (p.Ile1010Leu)
NM_025099.6(CTC1):c.3031T>C (p.Tyr1011His)
NM_025099.6(CTC1):c.3047T>A (p.Leu1016Gln) rs2151500704
NM_025099.6(CTC1):c.3052G>A (p.Gly1018Ser)
NM_025099.6(CTC1):c.3059A>C (p.Gln1020Pro) rs1987017237
NM_025099.6(CTC1):c.3093C>A (p.Ile1031=)
NM_025099.6(CTC1):c.3093C>T (p.Ile1031=)
NM_025099.6(CTC1):c.3104del (p.Phe1035fs) rs1567599198
NM_025099.6(CTC1):c.3110T>C (p.Leu1037Pro)
NM_025099.6(CTC1):c.3113A>C (p.Gln1038Pro) rs1486092046
NM_025099.6(CTC1):c.311A>C (p.Asn104Thr)
NM_025099.6(CTC1):c.312C>A (p.Asn104Lys) rs1987939410
NM_025099.6(CTC1):c.3131C>T (p.Ala1044Val) rs1987009040
NM_025099.6(CTC1):c.3136del (p.Cys1046fs) rs1223080335
NM_025099.6(CTC1):c.313C>T (p.Pro105Ser)
NM_025099.6(CTC1):c.3152G>A (p.Arg1051Gln)
NM_025099.6(CTC1):c.3156+6G>A rs1597374105
NM_025099.6(CTC1):c.3157-19A>G
NM_025099.6(CTC1):c.3176G>A (p.Gly1059Asp) rs957741030
NM_025099.6(CTC1):c.3195_3203dup (p.Ala1067_Ile1068insMetThrAla)
NM_025099.6(CTC1):c.3197C>G (p.Thr1066Arg) rs767106179
NM_025099.6(CTC1):c.320C>G (p.Pro107Arg) rs760362880
NM_025099.6(CTC1):c.320C>T (p.Pro107Leu) rs760362880
NM_025099.6(CTC1):c.3214A>G (p.Ile1072Val)
NM_025099.6(CTC1):c.3221+5G>C rs1986987980
NM_025099.6(CTC1):c.323G>A (p.Arg108Gln) rs368398609
NM_025099.6(CTC1):c.3251C>T (p.Ala1084Val) rs2151499036
NM_025099.6(CTC1):c.3253G>A (p.Val1085Met) rs1209523245
NM_025099.6(CTC1):c.3253G>C (p.Val1085Leu) rs1209523245
NM_025099.6(CTC1):c.3266G>A (p.Arg1089Lys)
NM_025099.6(CTC1):c.3271C>T (p.His1091Tyr) rs1358175667
NM_025099.6(CTC1):c.3272A>G (p.His1091Arg) rs1597373397
NM_025099.6(CTC1):c.3275A>G (p.His1092Arg) rs1986957283
NM_025099.6(CTC1):c.3278T>C (p.Val1093Ala) rs2151498924
NM_025099.6(CTC1):c.3280G>A (p.Ala1094Thr) rs773036519
NM_025099.6(CTC1):c.3299G>C (p.Cys1100Ser) rs2151498826
NM_025099.6(CTC1):c.32C>A (p.Ser11Tyr) rs1988915221
NM_025099.6(CTC1):c.33+4A>G rs1988914364
NM_025099.6(CTC1):c.33+6T>C
NM_025099.6(CTC1):c.3301C>A (p.Pro1101Thr) rs1597373346
NM_025099.6(CTC1):c.3302C>T (p.Pro1101Leu)
NM_025099.6(CTC1):c.330G>T (p.Gln110His)
NM_025099.6(CTC1):c.3325G>C (p.Asp1109His)
NM_025099.6(CTC1):c.3331G>A (p.Val1111Ile)
NM_025099.6(CTC1):c.3331G>C (p.Val1111Leu) rs374284337
NM_025099.6(CTC1):c.3351G>A (p.Val1117=)
NM_025099.6(CTC1):c.3356_3358dup (p.Leu1119dup) rs1986946908
NM_025099.6(CTC1):c.3367G>A (p.Gly1123Arg)
NM_025099.6(CTC1):c.3371C>T (p.Pro1124Leu)
NM_025099.6(CTC1):c.3377C>T (p.Ala1126Val)
NM_025099.6(CTC1):c.3387+3G>A rs2151498493
NM_025099.6(CTC1):c.3394G>A (p.Ala1132Thr) rs1986931683
NM_025099.6(CTC1):c.33C>T (p.Ser11=) rs757066174
NM_025099.6(CTC1):c.3401T>C (p.Val1134Ala)
NM_025099.6(CTC1):c.3409C>T (p.Pro1137Ser) rs2151498057
NM_025099.6(CTC1):c.3410C>G (p.Pro1137Arg)
NM_025099.6(CTC1):c.3413T>A (p.Met1138Lys) rs376216450
NM_025099.6(CTC1):c.3421T>C (p.Phe1141Leu) rs1302492698
NM_025099.6(CTC1):c.3425_3426delinsAT (p.Leu1142His) rs199473681
NM_025099.6(CTC1):c.3434T>G (p.Leu1145Arg)
NM_025099.6(CTC1):c.3436T>C (p.Cys1146Arg)
NM_025099.6(CTC1):c.3440C>G (p.Thr1147Ser) rs771446414
NM_025099.6(CTC1):c.3454C>G (p.Leu1152Val)
NM_025099.6(CTC1):c.3457C>T (p.Arg1153Cys)
NM_025099.6(CTC1):c.3458G>C (p.Arg1153Pro) rs748674791
NM_025099.6(CTC1):c.3472T>C (p.Ser1158Pro)
NM_025099.6(CTC1):c.3476T>C (p.Phe1159Ser)
NM_025099.6(CTC1):c.3490A>G (p.Lys1164Glu) rs1986917089
NM_025099.6(CTC1):c.3491A>C (p.Lys1164Thr)
NM_025099.6(CTC1):c.3496T>A (p.Ser1166Thr)
NM_025099.6(CTC1):c.3497C>T (p.Ser1166Leu)
NM_025099.6(CTC1):c.3506T>C (p.Val1169Ala)
NM_025099.6(CTC1):c.3514+4A>G
NM_025099.6(CTC1):c.3515-3C>G
NM_025099.6(CTC1):c.3515-3C>T rs776835897
NM_025099.6(CTC1):c.3521C>T (p.Pro1174Leu)
NM_025099.6(CTC1):c.3529C>G (p.Gln1177Glu) rs1349506921
NM_025099.6(CTC1):c.3533G>A (p.Arg1178Gln) rs764813118
NM_025099.6(CTC1):c.3533G>C (p.Arg1178Pro) rs764813118
NM_025099.6(CTC1):c.3547G>A (p.Glu1183Lys)
NM_025099.6(CTC1):c.3567C>G (p.His1189Gln) rs374942931
NM_025099.6(CTC1):c.3577A>G (p.Arg1193Gly) rs2151496778
NM_025099.6(CTC1):c.3583C>G (p.Arg1195Gly) rs199473682
NM_025099.6(CTC1):c.3584G>A (p.Arg1195Gln) rs1206095374
NM_025099.6(CTC1):c.3585del (p.Leu1196fs)
NM_025099.6(CTC1):c.3598T>A (p.Ser1200Thr)
NM_025099.6(CTC1):c.3599C>G (p.Ser1200Cys)
NM_025099.6(CTC1):c.3601A>C (p.Ile1201Leu)
NM_025099.6(CTC1):c.3628C>G (p.Leu1210Val)
NM_025099.6(CTC1):c.362C>T (p.Ser121Leu)
NM_025099.6(CTC1):c.3638T>C (p.Leu1213Pro)
NM_025099.6(CTC1):c.3649T>C (p.Cys1217Arg) rs1432386993
NM_025099.6(CTC1):c.383G>T (p.Cys128Phe) rs1339616084
NM_025099.6(CTC1):c.398T>C (p.Leu133Pro)
NM_025099.6(CTC1):c.400T>C (p.Tyr134His)
NM_025099.6(CTC1):c.401A>G (p.Tyr134Cys) rs2151531350
NM_025099.6(CTC1):c.40G>A (p.Ala14Thr)
NM_025099.6(CTC1):c.411T>G (p.Asp137Glu)
NM_025099.6(CTC1):c.412A>G (p.Asn138Asp)
NM_025099.6(CTC1):c.413A>G (p.Asn138Ser)
NM_025099.6(CTC1):c.416C>G (p.Thr139Ser) rs2151531295
NM_025099.6(CTC1):c.429C>G (p.Ser143Arg)
NM_025099.6(CTC1):c.435+3G>T rs6503093
NM_025099.6(CTC1):c.436-10T>A
NM_025099.6(CTC1):c.439A>G (p.Ile147Val)
NM_025099.6(CTC1):c.440T>C (p.Ile147Thr)
NM_025099.6(CTC1):c.450C>G (p.Asp150Glu) rs2151530771
NM_025099.6(CTC1):c.455C>G (p.Ser152Cys) rs1987914806
NM_025099.6(CTC1):c.455C>T (p.Ser152Phe) rs1987914806
NM_025099.6(CTC1):c.463G>A (p.Gly155Ser)
NM_025099.6(CTC1):c.466C>G (p.His156Asp) rs1987914284
NM_025099.6(CTC1):c.467A>G (p.His156Arg)
NM_025099.6(CTC1):c.470T>C (p.Leu157Pro) rs747551190
NM_025099.6(CTC1):c.480C>G (p.Phe160Leu)
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser) rs1385087993
NM_025099.6(CTC1):c.503C>A (p.Pro168His) rs1567613854
NM_025099.6(CTC1):c.52G>C (p.Asp18His) rs1988413224
NM_025099.6(CTC1):c.534C>G (p.His178Gln) rs1251648065
NM_025099.6(CTC1):c.53_55dup (p.Asp18_Ala19insAsp)
NM_025099.6(CTC1):c.547G>A (p.Asp183Asn) rs751596403
NM_025099.6(CTC1):c.556G>A (p.Val186Met) rs185346402
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.574A>G (p.Thr192Ala)
NM_025099.6(CTC1):c.575C>G (p.Thr192Ser)
NM_025099.6(CTC1):c.583C>T (p.Pro195Ser) rs2151530350
NM_025099.6(CTC1):c.596C>G (p.Thr199Arg) rs747323535
NM_025099.6(CTC1):c.622A>G (p.Ser208Gly)
NM_025099.6(CTC1):c.623G>A (p.Ser208Asn)
NM_025099.6(CTC1):c.647+6T>C
NM_025099.6(CTC1):c.647G>A (p.Arg216Lys)
NM_025099.6(CTC1):c.656T>C (p.Leu219Pro) rs750372074
NM_025099.6(CTC1):c.662G>A (p.Gly221Asp) rs1987831900
NM_025099.6(CTC1):c.66C>T (p.Phe22=)
NM_025099.6(CTC1):c.671G>A (p.Arg224Gln)
NM_025099.6(CTC1):c.67A>T (p.Ile23Phe)
NM_025099.6(CTC1):c.702T>G (p.Ser234Arg)
NM_025099.6(CTC1):c.71A>G (p.Gln24Arg)
NM_025099.6(CTC1):c.736A>G (p.Ile246Val)
NM_025099.6(CTC1):c.737T>C (p.Ile246Thr) rs2151527713
NM_025099.6(CTC1):c.743C>T (p.Ser248Phe)
NM_025099.6(CTC1):c.745C>G (p.Leu249Val) rs1987824590
NM_025099.6(CTC1):c.745C>T (p.Leu249Phe) rs1987824590
NM_025099.6(CTC1):c.751A>G (p.Arg251Gly) rs1987824097
NM_025099.6(CTC1):c.754T>G (p.Ser252Ala)
NM_025099.6(CTC1):c.787G>A (p.Val263Met)
NM_025099.6(CTC1):c.787G>C (p.Val263Leu) rs1010062693
NM_025099.6(CTC1):c.799G>A (p.Ala267Thr) rs1315598261
NM_025099.6(CTC1):c.7G>T (p.Ala3Ser)
NM_025099.6(CTC1):c.808G>T (p.Val270Leu)
NM_025099.6(CTC1):c.811T>C (p.Trp271Arg) rs1313170347
NM_025099.6(CTC1):c.813G>T (p.Trp271Cys)
NM_025099.6(CTC1):c.826C>T (p.Arg276Trp) rs267605102
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025099.6(CTC1):c.853G>C (p.Glu285Gln) rs2151523962
NM_025099.6(CTC1):c.860G>A (p.Arg287Gln) rs1987718148
NM_025099.6(CTC1):c.874C>G (p.Arg292Gly) rs1013688033
NM_025099.6(CTC1):c.875G>A (p.Arg292His)
NM_025099.6(CTC1):c.884_889del (p.Arg295_Gln296del) rs2151523720
NM_025099.6(CTC1):c.892G>T (p.Val298Phe) rs2151523686
NM_025099.6(CTC1):c.8C>T (p.Ala3Val) rs923853643
NM_025099.6(CTC1):c.917G>T (p.Arg306Leu) rs567779457
NM_025099.6(CTC1):c.926T>G (p.Leu309Arg) rs1555534628
NM_025099.6(CTC1):c.929T>C (p.Leu310Pro)
NM_025099.6(CTC1):c.934C>T (p.Pro312Ser)
NM_025099.6(CTC1):c.951_956del (p.318LE[2]) rs766700799
NM_025099.6(CTC1):c.955G>A (p.Glu319Lys)
NM_025099.6(CTC1):c.955G>C (p.Glu319Gln)
NM_025099.6(CTC1):c.958_969del (p.318LE[1]) rs763129063
NM_025099.6(CTC1):c.973C>T (p.Pro325Ser)
NM_025099.6(CTC1):c.976C>G (p.Leu326Val)
NM_025099.6(CTC1):c.990C>A (p.Asp330Glu)
NM_025099.6(CTC1):c.990_991delinsTA (p.Pro331Thr) rs2151523180
NM_025132.3(WDR19):c.-59dup rs558898928
NM_025132.4(WDR19):c.*124T>G rs1737119800
NM_025132.4(WDR19):c.*184T>G rs886059405
NM_025132.4(WDR19):c.*293_*296dup rs374474677
NM_025132.4(WDR19):c.*83G>C rs111976533
NM_025132.4(WDR19):c.1174T>G (p.Phe392Val)
NM_025132.4(WDR19):c.1217A>G (p.Asn406Ser)
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) rs1729054259
NM_025132.4(WDR19):c.1293C>T (p.Ala431=) rs886059397
NM_025132.4(WDR19):c.1314C>G (p.Asp438Glu)
NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys) rs539621646
NM_025132.4(WDR19):c.1379C>T (p.Ala460Val)
NM_025132.4(WDR19):c.137A>G (p.Gln46Arg)
NM_025132.4(WDR19):c.1388A>G (p.Glu463Gly)
NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)
NM_025132.4(WDR19):c.1417G>A (p.Asp473Asn)
NM_025132.4(WDR19):c.142A>G (p.Arg48Gly)
NM_025132.4(WDR19):c.143G>T (p.Arg48Ile)
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) rs1560503998
NM_025132.4(WDR19):c.1472G>A (p.Gly491Asp)
NM_025132.4(WDR19):c.1479T>C (p.Asp493=) rs1207013785
NM_025132.4(WDR19):c.1502A>G (p.Tyr501Cys)
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg) rs1335665760
NM_025132.4(WDR19):c.165T>G (p.Gly55=)
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr) rs1730480639
NM_025132.4(WDR19):c.171T>C (p.Cys57=) rs1483597668
NM_025132.4(WDR19):c.1768A>G (p.Thr590Ala)
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.180G>A (p.Met60Ile)
NM_025132.4(WDR19):c.1833G>C (p.Leu611Phe)
NM_025132.4(WDR19):c.194A>G (p.Asp65Gly)
NM_025132.4(WDR19):c.198A>T (p.Gly66=) rs749815295
NM_025132.4(WDR19):c.1994C>A (p.Ala665Asp)
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)
NM_025132.4(WDR19):c.2004G>A (p.Met668Ile)
NM_025132.4(WDR19):c.2051C>G (p.Ala684Gly)
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2149G>C (p.Glu717Gln)
NM_025132.4(WDR19):c.2196T>G (p.Asp732Glu)
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His) rs886059399
NM_025132.4(WDR19):c.2233T>G (p.Cys745Gly)
NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys) rs1730954326
NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu) rs762043395
NM_025132.4(WDR19):c.2341T>C (p.Tyr781His)
NM_025132.4(WDR19):c.235A>G (p.Ile79Val)
NM_025132.4(WDR19):c.2364-13_2364-9del
NM_025132.4(WDR19):c.2421+5C>A rs563302411
NM_025132.4(WDR19):c.2421+5C>T
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu) rs1375996391
NM_025132.4(WDR19):c.2519G>A (p.Arg840Lys)
NM_025132.4(WDR19):c.2528A>G (p.Lys843Arg)
NM_025132.4(WDR19):c.2558T>C (p.Met853Thr)
NM_025132.4(WDR19):c.257C>A (p.Thr86Lys)
NM_025132.4(WDR19):c.2599C>G (p.Leu867Val)
NM_025132.4(WDR19):c.2653G>A (p.Val885Ile)
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)
NM_025132.4(WDR19):c.2746G>A (p.Val916Ile)
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe) rs780963454
NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser) rs778487491
NM_025132.4(WDR19):c.2858G>C (p.Gly953Ala)
NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro) rs1057523257
NM_025132.4(WDR19):c.2873C>T (p.Ala958Val)
NM_025132.4(WDR19):c.2877-13T>C
NM_025132.4(WDR19):c.2944G>A (p.Glu982Lys)
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)
NM_025132.4(WDR19):c.302C>A (p.Ser101Tyr) rs1381726098
NM_025132.4(WDR19):c.3184-12C>A
NM_025132.4(WDR19):c.3193G>A (p.Ala1065Thr)
NM_025132.4(WDR19):c.3358+15C>T rs750722358
NM_025132.4(WDR19):c.3359G>T (p.Gly1120Val)
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3483+19C>G
NM_025132.4(WDR19):c.3520C>T (p.Arg1174Cys)
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu) rs372719724
NM_025132.4(WDR19):c.3547A>T (p.Ile1183Phe)
NM_025132.4(WDR19):c.3548T>C (p.Ile1183Thr)
NM_025132.4(WDR19):c.3566-6T>A
NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr) rs886059402
NM_025132.4(WDR19):c.3655A>G (p.Arg1219Gly)
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) rs1735748675
NM_025132.4(WDR19):c.373A>C (p.Asn125His)
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile) rs886059403
NM_025132.4(WDR19):c.377A>G (p.His126Arg)
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys) rs1553919125
NM_025132.4(WDR19):c.3917+6T>C
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly) rs367721770
NM_025132.4(WDR19):c.4025T>C (p.Leu1342Pro)
NM_025132.4(WDR19):c.406+5_406+11del
NM_025132.4(WDR19):c.40G>A (p.Gly14Ser)
NM_025132.4(WDR19):c.415A>G (p.Thr139Ala)
NM_025132.4(WDR19):c.416C>A (p.Thr139Asn)
NM_025132.4(WDR19):c.467G>T (p.Gly156Val)
NM_025132.4(WDR19):c.619G>A (p.Gly207Ser)
NM_025132.4(WDR19):c.632T>C (p.Leu211Ser)
NM_025132.4(WDR19):c.670G>C (p.Asp224His)
NM_025132.4(WDR19):c.750A>T (p.Ser250=) rs886059395
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) rs199812132
NM_025132.4(WDR19):c.821A>G (p.His274Arg)
NM_025132.4(WDR19):c.845C>A (p.Ala282Glu)
NM_025132.4(WDR19):c.952G>A (p.Glu318Lys)
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser) rs1728875659
NM_025132.4(WDR19):c.98+5G>T
NM_025132.4(WDR19):c.[291-21A>G];[542C>G]
NM_025216.2(WNT10A):c.-194dup rs886055639
NM_025216.2(WNT10A):c.-202G>C rs886055638
NM_025216.2(WNT10A):c.-249G>C rs571829301
NM_025216.2(WNT10A):c.-358G>A rs886055635
NM_025216.2(WNT10A):c.-370C>A rs886055634
NM_025216.2(WNT10A):c.-433C>G rs886055633
NM_025216.3(WNT10A):c.*139C>G rs1944681589
NM_025216.3(WNT10A):c.*339C>T rs1944683536
NM_025216.3(WNT10A):c.*441C>T rs886055647
NM_025216.3(WNT10A):c.1034T>C (p.Phe345Ser) rs1553623335
NM_025216.3(WNT10A):c.1035C>A (p.Phe345Leu) rs1944675395
NM_025216.3(WNT10A):c.1036T>C (p.Cys346Arg)
NM_025216.3(WNT10A):c.1040A>C (p.Glu347Ala)
NM_025216.3(WNT10A):c.1049C>T (p.Pro350Leu) rs564146190
NM_025216.3(WNT10A):c.1085G>T (p.Cys362Phe) rs1575235098
NM_025216.3(WNT10A):c.1120_1134dup (p.Gly378_Arg379insSerMetCysCysGly)
NM_025216.3(WNT10A):c.1124T>G (p.Met375Arg) rs773598047
NM_025216.3(WNT10A):c.1127G>C (p.Cys376Ser)
NM_025216.3(WNT10A):c.1127G>T (p.Cys376Phe)
NM_025216.3(WNT10A):c.113+3G>A
NM_025216.3(WNT10A):c.1138G>A (p.Gly380Ser)
NM_025216.3(WNT10A):c.1140_1141insGCGGCC (p.Gly380_His381insAlaAla)
NM_025216.3(WNT10A):c.1154G>A (p.Arg385His)
NM_025216.3(WNT10A):c.1181G>A (p.Cys394Tyr)
NM_025216.3(WNT10A):c.1199G>C (p.Cys400Ser) rs1575235227
NM_025216.3(WNT10A):c.1204G>A (p.Val402Met)
NM_025216.3(WNT10A):c.1212C>G (p.Cys404Trp) rs1553623396
NM_025216.3(WNT10A):c.1223G>A (p.Arg408His)
NM_025216.3(WNT10A):c.1247G>C (p.Cys416Ser)
NM_025216.3(WNT10A):c.152C>T (p.Pro51Leu)
NM_025216.3(WNT10A):c.166A>G (p.Asn56Asp) rs992196031
NM_025216.3(WNT10A):c.262G>A (p.Gly88Ser) rs1443984375
NM_025216.3(WNT10A):c.262G>T (p.Gly88Cys)
NM_025216.3(WNT10A):c.275C>T (p.Ala92Val) rs1553622317
NM_025216.3(WNT10A):c.293A>C (p.His98Pro)
NM_025216.3(WNT10A):c.310C>A (p.Arg104Ser)
NM_025216.3(WNT10A):c.315G>C (p.Trp105Cys) rs886055642
NM_025216.3(WNT10A):c.319T>A (p.Cys107Ser)
NM_025216.3(WNT10A):c.323C>T (p.Ser108Leu) rs2106011706
NM_025216.3(WNT10A):c.338G>C (p.Arg113Pro)
NM_025216.3(WNT10A):c.364A>T (p.Ile122Phe) rs201929547
NM_025216.3(WNT10A):c.38G>C (p.Arg13Pro)
NM_025216.3(WNT10A):c.433G>A (p.Val145Met) rs543063101
NM_025216.3(WNT10A):c.434T>C (p.Val145Ala)
NM_025216.3(WNT10A):c.456C>T (p.Gly152=) rs1359098202
NM_025216.3(WNT10A):c.483G>C (p.Ala161=) rs200751156
NM_025216.3(WNT10A):c.542C>T (p.Ala181Val)
NM_025216.3(WNT10A):c.554G>A (p.Gly185Asp) rs1458852116
NM_025216.3(WNT10A):c.59C>A (p.Pro20Gln)
NM_025216.3(WNT10A):c.623C>T (p.Ser208Phe) rs756543596
NM_025216.3(WNT10A):c.640T>C (p.Cys214Arg)
NM_025216.3(WNT10A):c.653T>G (p.Met218Arg) rs759559158
NM_025216.3(WNT10A):c.664G>A (p.Glu222Lys) rs377416834
NM_025216.3(WNT10A):c.667C>A (p.Arg223Ser)
NM_025216.3(WNT10A):c.667C>T (p.Arg223Cys) rs149245953
NM_025216.3(WNT10A):c.719C>T (p.Ala240Val) rs201578578
NM_025216.3(WNT10A):c.756+13C>A rs745958462
NM_025216.3(WNT10A):c.775C>T (p.Arg259Trp)
NM_025216.3(WNT10A):c.779G>A (p.Arg260Gln)
NM_025216.3(WNT10A):c.791G>T (p.Cys264Phe) rs1944669118
NM_025216.3(WNT10A):c.796G>A (p.Gly266Ser) rs778752861
NM_025216.3(WNT10A):c.801G>A (p.Thr267=) rs553058408
NM_025216.3(WNT10A):c.839C>T (p.Thr280Met)
NM_025216.3(WNT10A):c.841C>A (p.Pro281Thr) rs541715493
NM_025216.3(WNT10A):c.841C>G (p.Pro281Ala) rs541715493
NM_025216.3(WNT10A):c.898A>T (p.Ile300Phe)
NM_025216.3(WNT10A):c.914G>T (p.Arg305Leu) rs746769946
NM_025216.3(WNT10A):c.916_918dup (p.Asn306dup) rs752005843
NM_025216.3(WNT10A):c.919G>C (p.Gly307Arg)
NM_025216.3(WNT10A):c.958C>T (p.Pro320Ser) rs1944673587
NM_025216.3(WNT10A):c.985C>T (p.Arg329Ter)
NM_025216.3(WNT10A):c.987_989dup (p.Arg330dup) rs1416466883
NM_030662.4(MAP2K2):c.1017C>T (p.Thr339=)
NM_030662.4(MAP2K2):c.1042A>G (p.Lys348Glu) rs1460336485
NM_030662.4(MAP2K2):c.1086G>A (p.Met362Ile)
NM_030662.4(MAP2K2):c.1111C>T (p.Arg371Trp) rs1003521922
NM_030662.4(MAP2K2):c.159del (p.Leu54fs) rs777549760
NM_030662.4(MAP2K2):c.176C>G (p.Thr59Ser)
NM_030662.4(MAP2K2):c.251G>T (p.Gly84Val)
NM_030662.4(MAP2K2):c.288CAT[1] (p.Ile97del) rs1555698652
NM_030662.4(MAP2K2):c.300G>T (p.Arg100Ser) rs2041236830
NM_030662.4(MAP2K2):c.304-3C>G
NM_030662.4(MAP2K2):c.331A>T (p.Ile111Phe) rs1555698031
NM_030662.4(MAP2K2):c.335G>A (p.Arg112Gln)
NM_030662.4(MAP2K2):c.391G>T (p.Val131Leu)
NM_030662.4(MAP2K2):c.404G>T (p.Gly135Val)
NM_030662.4(MAP2K2):c.433A>G (p.Ile145Val) rs2041140457
NM_030662.4(MAP2K2):c.464T>C (p.Leu155Pro)
NM_030662.4(MAP2K2):c.46C>A (p.Pro16Thr) rs904859028
NM_030662.4(MAP2K2):c.47C>G (p.Pro16Arg)
NM_030662.4(MAP2K2):c.491G>A (p.Arg164Lys)
NM_030662.4(MAP2K2):c.500A>G (p.Glu167Gly)
NM_030662.4(MAP2K2):c.590C>T (p.Pro197Leu)
NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)
NM_030662.4(MAP2K2):c.674A>G (p.Asn225Ser)
NM_030662.4(MAP2K2):c.695C>T (p.Ser232Phe)
NM_030662.4(MAP2K2):c.706-1_706delinsTT rs1599287155
NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)
NM_030662.4(MAP2K2):c.758T>C (p.Met253Thr)
NM_030662.4(MAP2K2):c.794A>G (p.Tyr265Cys)
NM_030662.4(MAP2K2):c.7G>T (p.Ala3Ser) rs1399102007
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg) rs368064728
NM_030662.4(MAP2K2):c.847G>A (p.Val283Met) rs185999703
NM_030662.4(MAP2K2):c.847G>T (p.Val283Leu) rs185999703
NM_030662.4(MAP2K2):c.871C>G (p.Pro291Ala)
NM_030662.4(MAP2K2):c.874C>T (p.His292Tyr)
NM_030662.4(MAP2K2):c.903dup (p.Gly302fs)
NM_030662.4(MAP2K2):c.925G>A (p.Gly309Arg)
NM_030662.4(MAP2K2):c.946A>G (p.Met316Val)
NM_030662.4(MAP2K2):c.969C>G (p.Asp323Glu) rs768656734
NM_030662.4(MAP2K2):c.973_974del (p.Ile325fs) rs770978109
NM_030916.3(NECTIN4):c.1478G>C (p.Arg493Pro) rs753298397
NM_030916.3(NECTIN4):c.1490C>T (p.Thr497Met)
NM_030916.3(NECTIN4):c.374A>C (p.Tyr125Ser)
NM_032208.3(ANTXR1):c.659G>C (p.Cys220Ser)
NM_032208.3(ANTXR1):c.80G>T (p.Gly27Val) rs1558726190
NM_032957.4(RTEL1):c.1346T>C rs863224915
NM_032957.4(RTEL1):c.838_840delGAG rs1555901753
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_033360.4(KRAS):c.*1967del rs886049191
NM_033360.4(KRAS):c.*3092_*3095del rs886049184
NM_033360.4(KRAS):c.*3803_*3804dup rs142323886
NM_033360.4(KRAS):c.*3875_*3878del rs886049180
NM_033360.4(KRAS):c.*4187del rs34719539
NM_033360.4(KRAS):c.*659del rs756307694
NM_052989.3(IFT122):c.*121G>T rs536919948
NM_052989.3(IFT122):c.*142C>G rs977256057
NM_052989.3(IFT122):c.*241C>G rs2084614746
NM_052989.3(IFT122):c.-12A>G
NM_052989.3(IFT122):c.-22C>A rs551140180
NM_052989.3(IFT122):c.1008+3A>C
NM_052989.3(IFT122):c.1015G>A (p.Gly339Ser)
NM_052989.3(IFT122):c.1027G>A (p.Gly343Ser)
NM_052989.3(IFT122):c.1028G>T (p.Gly343Val)
NM_052989.3(IFT122):c.108+4G>A rs1559838129
NM_052989.3(IFT122):c.1088A>G (p.Tyr363Cys)
NM_052989.3(IFT122):c.109-7T>C
NM_052989.3(IFT122):c.1091C>T (p.Ala364Val)
NM_052989.3(IFT122):c.113A>G (p.Tyr38Cys)
NM_052989.3(IFT122):c.1168C>T (p.Leu390Phe) rs2108292713
NM_052989.3(IFT122):c.1174A>G (p.Lys392Glu)
NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln) rs1405512091
NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)
NM_052989.3(IFT122):c.124G>T (p.Asp42Tyr)
NM_052989.3(IFT122):c.1274G>T (p.Arg425Leu)
NM_052989.3(IFT122):c.127G>A (p.Gly43Ser)
NM_052989.3(IFT122):c.1310A>T (p.Asn437Ile)
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser)
NM_052989.3(IFT122):c.1351-13G>A
NM_052989.3(IFT122):c.1353G>T (p.Glu451Asp)
NM_052989.3(IFT122):c.1367G>T (p.Cys456Phe) rs1335391766
NM_052989.3(IFT122):c.1372T>G (p.Ser458Ala)
NM_052989.3(IFT122):c.1378A>T (p.Ser460Cys) rs1577642330
NM_052989.3(IFT122):c.137T>G (p.Leu46Arg)
NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln)
NM_052989.3(IFT122):c.1411T>G (p.Ser471Ala)
NM_052989.3(IFT122):c.1447C>G (p.Pro483Ala)
NM_052989.3(IFT122):c.1471G>C (p.Gly491Arg)
NM_052989.3(IFT122):c.1488+16C>T
NM_052989.3(IFT122):c.1488G>A (p.Gln496=) rs2078432243
NM_052989.3(IFT122):c.1511A>G (p.Asn504Ser)
NM_052989.3(IFT122):c.1552C>T (p.Arg518Cys)
NM_052989.3(IFT122):c.1564A>G (p.Met522Val)
NM_052989.3(IFT122):c.1570G>A (p.Ala524Thr) rs2078655875
NM_052989.3(IFT122):c.1591G>A (p.Val531Met)
NM_052989.3(IFT122):c.1600G>A (p.Glu534Lys)
NM_052989.3(IFT122):c.1610C>T (p.Thr537Ile)
NM_052989.3(IFT122):c.1634C>G (p.Thr545Ser)
NM_052989.3(IFT122):c.1651C>A (p.Gln551Lys)
NM_052989.3(IFT122):c.1653+3G>A
NM_052989.3(IFT122):c.1669A>G (p.Ser557Gly)
NM_052989.3(IFT122):c.1713G>A (p.Ser571=)
NM_052989.3(IFT122):c.1726C>T (p.Leu576Phe)
NM_052989.3(IFT122):c.1773G>C (p.Gln591His)
NM_052989.3(IFT122):c.1787G>T (p.Gly596Val)
NM_052989.3(IFT122):c.1793A>G (p.Asn598Ser)
NM_052989.3(IFT122):c.1800C>T (p.Ser600=) rs886057965
NM_052989.3(IFT122):c.1828A>G (p.Ile610Val)
NM_052989.3(IFT122):c.1835C>T (p.Ala612Val)
NM_052989.3(IFT122):c.1837G>A (p.Val613Met)
NM_052989.3(IFT122):c.1845G>A (p.Val615=)
NM_052989.3(IFT122):c.1851+3A>G
NM_052989.3(IFT122):c.1852-8T>C
NM_052989.3(IFT122):c.1853C>T (p.Ser618Phe)
NM_052989.3(IFT122):c.1858C>G (p.Pro620Ala)
NM_052989.3(IFT122):c.185C>T (p.Ala62Val)
NM_052989.3(IFT122):c.1862T>G (p.Met621Arg)
NM_052989.3(IFT122):c.1868A>G (p.Gln623Arg)
NM_052989.3(IFT122):c.1878T>G (p.Asp626Glu)
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn) rs777051654
NM_052989.3(IFT122):c.1890C>G (p.Phe630Leu)
NM_052989.3(IFT122):c.1892A>G (p.Lys631Arg)
NM_052989.3(IFT122):c.189G>A (p.Lys63=)
NM_052989.3(IFT122):c.1903C>G (p.Gln635Glu)
NM_052989.3(IFT122):c.1910_1929delinsGCGTG (p.Ala637_Asp643delinsGlyVal)
NM_052989.3(IFT122):c.1913G>C (p.Cys638Ser)
NM_052989.3(IFT122):c.1936T>C (p.Trp646Arg)
NM_052989.3(IFT122):c.194-8_194-7del
NM_052989.3(IFT122):c.1964_1966del (p.Glu655del)
NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)
NM_052989.3(IFT122):c.1992G>A (p.Lys664=)
NM_052989.3(IFT122):c.199C>A (p.Arg67Ser) rs181971625
NM_052989.3(IFT122):c.199C>T (p.Arg67Cys)
NM_052989.3(IFT122):c.2036_2037delinsAA (p.Ser679Lys)
NM_052989.3(IFT122):c.2038A>G (p.Ser680Gly)
NM_052989.3(IFT122):c.2051G>A (p.Arg684Lys)
NM_052989.3(IFT122):c.2053A>C (p.Lys685Gln)
NM_052989.3(IFT122):c.2059C>T (p.Arg687Trp)
NM_052989.3(IFT122):c.2063G>A (p.Gly688Glu)
NM_052989.3(IFT122):c.2074A>G (p.Asn692Asp)
NM_052989.3(IFT122):c.2079C>T (p.Asp693=)
NM_052989.3(IFT122):c.2087T>G (p.Leu696Arg)
NM_052989.3(IFT122):c.20G>C (p.Trp7Ser)
NM_052989.3(IFT122):c.211G>A (p.Gly71Arg)
NM_052989.3(IFT122):c.2162T>C (p.Leu721Pro)
NM_052989.3(IFT122):c.2164G>A (p.Ala722Thr)
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val) rs143662777
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2182G>A (p.Asp728Asn)
NM_052989.3(IFT122):c.2191A>C (p.Met731Leu)
NM_052989.3(IFT122):c.2197G>C (p.Glu733Gln)
NM_052989.3(IFT122):c.2233A>G (p.Lys745Glu)
NM_052989.3(IFT122):c.2285A>G (p.Lys762Arg)
NM_052989.3(IFT122):c.2297_2299delinsTCA (p.Ala766_Ala767delinsValThr)
NM_052989.3(IFT122):c.2303T>C (p.Val768Ala)
NM_052989.3(IFT122):c.2304G>A (p.Val768=) rs886057966
NM_052989.3(IFT122):c.2306A>G (p.Glu769Gly)
NM_052989.3(IFT122):c.2309T>G (p.Met770Arg)
NM_052989.3(IFT122):c.2312A>G (p.Tyr771Cys)
NM_052989.3(IFT122):c.231TAT[1] (p.Ile79del)
NM_052989.3(IFT122):c.2332G>T (p.Val778Phe) rs139943115
NM_052989.3(IFT122):c.2368G>A (p.Val790Ile)
NM_052989.3(IFT122):c.2384A>C (p.Asp795Ala)
NM_052989.3(IFT122):c.2392C>T (p.Arg798Cys)
NM_052989.3(IFT122):c.2414G>A (p.Arg805His)
NM_052989.3(IFT122):c.2428C>G (p.Leu810Val)
NM_052989.3(IFT122):c.2434G>A (p.Ala812Thr)
NM_052989.3(IFT122):c.2441A>C (p.Tyr814Ser)
NM_052989.3(IFT122):c.2455G>C (p.Asp819His)
NM_052989.3(IFT122):c.2465G>T (p.Gly822Val)
NM_052989.3(IFT122):c.2500C>T (p.Leu834Phe)
NM_052989.3(IFT122):c.2501T>C (p.Leu834Pro)
NM_052989.3(IFT122):c.2512G>C (p.Val838Leu)
NM_052989.3(IFT122):c.2523C>T (p.His841=) rs780586191
NM_052989.3(IFT122):c.2537G>A (p.Arg846His) rs370415289
NM_052989.3(IFT122):c.2537G>T (p.Arg846Leu)
NM_052989.3(IFT122):c.2547G>A (p.Glu849=)
NM_052989.3(IFT122):c.2559G>A (p.Leu853=)
NM_052989.3(IFT122):c.2569C>G (p.His857Asp)
NM_052989.3(IFT122):c.2575G>C (p.Glu859Gln) rs2081966365
NM_052989.3(IFT122):c.257G>A (p.Gly86Asp)
NM_052989.3(IFT122):c.2588A>G (p.Asp863Gly)
NM_052989.3(IFT122):c.2630G>A (p.Arg877His) rs561698295
NM_052989.3(IFT122):c.2645A>G (p.Gln882Arg)
NM_052989.3(IFT122):c.2663C>A (p.Ala888Asp)
NM_052989.3(IFT122):c.2669G>A (p.Arg890Gln)
NM_052989.3(IFT122):c.2672A>G (p.Gln891Arg) rs2082199852
NM_052989.3(IFT122):c.2683G>A (p.Val895Ile)
NM_052989.3(IFT122):c.2716G>A (p.Val906Met)
NM_052989.3(IFT122):c.2727C>T (p.Ser909=)
NM_052989.3(IFT122):c.272C>T (p.Thr91Met)
NM_052989.3(IFT122):c.273-263T>G
NM_052989.3(IFT122):c.273-274G>A
NM_052989.3(IFT122):c.273-283A>G
NM_052989.3(IFT122):c.273-292A>G
NM_052989.3(IFT122):c.273-313G>C
NM_052989.3(IFT122):c.273-334T>G
NM_052989.3(IFT122):c.273-339_273-337del
NM_052989.3(IFT122):c.273-342A>G
NM_052989.3(IFT122):c.273-357C>G
NM_052989.3(IFT122):c.2777T>C (p.Leu926Pro)
NM_052989.3(IFT122):c.2780A>T (p.Asp927Val)
NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys) rs747428443
NM_052989.3(IFT122):c.278A>G (p.Asn93Ser)
NM_052989.3(IFT122):c.2792-12T>A
NM_052989.3(IFT122):c.2792-14G>A
NM_052989.3(IFT122):c.2792-5A>T
NM_052989.3(IFT122):c.2798C>A (p.Ala933Asp) rs747843863
NM_052989.3(IFT122):c.2803_2805del (p.Lys935del) rs746556063
NM_052989.3(IFT122):c.2807A>C (p.Asp936Ala)
NM_052989.3(IFT122):c.2812A>G (p.Met938Val)
NM_052989.3(IFT122):c.2835C>G (p.Phe945Leu)
NM_052989.3(IFT122):c.2839C>T (p.Arg947Cys)
NM_052989.3(IFT122):c.2866C>T (p.His956Tyr)
NM_052989.3(IFT122):c.2876A>G (p.His959Arg)
NM_052989.3(IFT122):c.2881C>G (p.His961Asp) rs1178500227
NM_052989.3(IFT122):c.2885C>A (p.Thr962Lys)
NM_052989.3(IFT122):c.2885C>T (p.Thr962Met)
NM_052989.3(IFT122):c.2886G>A (p.Thr962=)
NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly)
NM_052989.3(IFT122):c.2894C>T (p.Pro965Leu)
NM_052989.3(IFT122):c.2899A>G (p.Ser967Gly)
NM_052989.3(IFT122):c.2901T>G (p.Ser967Arg)
NM_052989.3(IFT122):c.2903T>G (p.Val968Gly)
NM_052989.3(IFT122):c.2909G>A (p.Arg970His)
NM_052989.3(IFT122):c.2909G>T (p.Arg970Leu)
NM_052989.3(IFT122):c.2921T>C (p.Leu974Pro)
NM_052989.3(IFT122):c.2956C>T (p.Pro986Ser)
NM_052989.3(IFT122):c.2972C>T (p.Ser991Leu)
NM_052989.3(IFT122):c.2999T>A (p.Phe1000Tyr)
NM_052989.3(IFT122):c.2999T>G (p.Phe1000Cys)
NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)
NM_052989.3(IFT122):c.3028G>A (p.Gly1010Ser)
NM_052989.3(IFT122):c.3049C>A (p.His1017Asn) rs900548596
NM_052989.3(IFT122):c.304A>C (p.Asn102His)
NM_052989.3(IFT122):c.3055T>C (p.Tyr1019His)
NM_052989.3(IFT122):c.3067C>T (p.Arg1023Cys)
NM_052989.3(IFT122):c.3079A>C (p.Ile1027Leu)
NM_052989.3(IFT122):c.3088A>G (p.Arg1030Gly)
NM_052989.3(IFT122):c.3115A>G (p.Thr1039Ala)
NM_052989.3(IFT122):c.3124A>G (p.Ile1042Val)
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys) rs555281580
NM_052989.3(IFT122):c.3153+16C>T
NM_052989.3(IFT122):c.3154-17C>A
NM_052989.3(IFT122):c.3175C>T (p.Arg1059Cys)
NM_052989.3(IFT122):c.3176G>A (p.Arg1059His)
NM_052989.3(IFT122):c.3213C>T (p.Gly1071=)
NM_052989.3(IFT122):c.3233G>A (p.Arg1078His)
NM_052989.3(IFT122):c.3249C>A (p.Phe1083Leu)
NM_052989.3(IFT122):c.3265+5G>A
NM_052989.3(IFT122):c.3268G>T (p.Val1090Leu)
NM_052989.3(IFT122):c.3278T>G (p.Leu1093Arg)
NM_052989.3(IFT122):c.329C>G (p.Ser110Cys)
NM_052989.3(IFT122):c.3301G>A (p.Gly1101Arg)
NM_052989.3(IFT122):c.3302G>C (p.Gly1101Ala)
NM_052989.3(IFT122):c.3307A>G (p.Thr1103Ala)
NM_052989.3(IFT122):c.3308C>G (p.Thr1103Ser)
NM_052989.3(IFT122):c.3316G>A (p.Glu1106Lys)
NM_052989.3(IFT122):c.3358C>T (p.Arg1120Trp)
NM_052989.3(IFT122):c.3359G>A (p.Arg1120Gln)
NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)
NM_052989.3(IFT122):c.3391+6C>T rs2084139065
NM_052989.3(IFT122):c.3391+7A>T
NM_052989.3(IFT122):c.3400A>G (p.Ile1134Val) rs754333037
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro) rs1251905610
NM_052989.3(IFT122):c.3407G>A (p.Arg1136Gln)
NM_052989.3(IFT122):c.3431_3432delinsCT (p.Ile1144Thr)
NM_052989.3(IFT122):c.3450C>T (p.Phe1150=)
NM_052989.3(IFT122):c.3471+9G>A
NM_052989.3(IFT122):c.3472-5T>A
NM_052989.3(IFT122):c.3489C>G (p.Phe1163Leu)
NM_052989.3(IFT122):c.348T>C (p.Phe116=)
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
NM_052989.3(IFT122):c.350-5dup
NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)
NM_052989.3(IFT122):c.3508C>T (p.Arg1170Trp)
NM_052989.3(IFT122):c.3509G>A (p.Arg1170Gln)
NM_052989.3(IFT122):c.3520C>T (p.Arg1174Cys)
NM_052989.3(IFT122):c.3536G>A (p.Arg1179Gln) rs766429633
NM_052989.3(IFT122):c.3536G>C (p.Arg1179Pro)
NM_052989.3(IFT122):c.3586C>G (p.Arg1196Gly)
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys) rs201590142
NM_052989.3(IFT122):c.3586del (p.Arg1196fs) rs1560036538
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
NM_052989.3(IFT122):c.3623C>T (p.Pro1208Leu)
NM_052989.3(IFT122):c.3628T>G (p.Cys1210Gly)
NM_052989.3(IFT122):c.3636+3A>G rs753825998
NM_052989.3(IFT122):c.3656A>G (p.Tyr1219Cys)
NM_052989.3(IFT122):c.3664C>T (p.Leu1222=)
NM_052989.3(IFT122):c.3676C>G (p.His1226Asp)
NM_052989.3(IFT122):c.3679G>T (p.Gly1227Cys)
NM_052989.3(IFT122):c.3692A>C (p.Tyr1231Ser)
NM_052989.3(IFT122):c.3709G>A (p.Asp1237Asn)
NM_052989.3(IFT122):c.3711T>C (p.Asp1237=) rs2084594582
NM_052989.3(IFT122):c.410G>A (p.Cys137Tyr) rs1278478989
NM_052989.3(IFT122):c.416+5G>A
NM_052989.3(IFT122):c.428A>G (p.Asp143Gly)
NM_052989.3(IFT122):c.42T>C (p.Cys14=)
NM_052989.3(IFT122):c.456C>G (p.Phe152Leu)
NM_052989.3(IFT122):c.458A>G (p.Asn153Ser)
NM_052989.3(IFT122):c.476G>A (p.Arg159Gln)
NM_052989.3(IFT122):c.489C>T (p.Gly163=)
NM_052989.3(IFT122):c.497A>G (p.Lys166Arg)
NM_052989.3(IFT122):c.503A>G (p.Lys168Arg)
NM_052989.3(IFT122):c.521G>C (p.Gly174Ala)
NM_052989.3(IFT122):c.52A>G (p.Ile18Val)
NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
NM_052989.3(IFT122):c.536T>G (p.Ile179Arg) rs769527595
NM_052989.3(IFT122):c.552del (p.Cys183_Trp184insTer) rs781766922
NM_052989.3(IFT122):c.555C>T (p.Asn185=)
NM_052989.3(IFT122):c.556C>T (p.Pro186Ser) rs2108118912
NM_052989.3(IFT122):c.55G>T (p.Ala19Ser)
NM_052989.3(IFT122):c.564-2A>G
NM_052989.3(IFT122):c.564-3C>T
NM_052989.3(IFT122):c.564-7T>A
NM_052989.3(IFT122):c.567A>G (p.Arg189=)
NM_052989.3(IFT122):c.579C>G (p.Phe193Leu)
NM_052989.3(IFT122):c.618T>G (p.Ile206Met) rs1320096747
NM_052989.3(IFT122):c.640A>G (p.Ile214Val)
NM_052989.3(IFT122):c.682A>G (p.Ser228Gly)
NM_052989.3(IFT122):c.686A>C (p.Glu229Ala) rs1433055646
NM_052989.3(IFT122):c.688G>A (p.Ala230Thr)
NM_052989.3(IFT122):c.702_713dup (p.Pro235_Glu238dup) rs2076877349
NM_052989.3(IFT122):c.718G>A (p.Asp240Asn)
NM_052989.3(IFT122):c.722G>T (p.Ser241Ile)
NM_052989.3(IFT122):c.740+6T>A
NM_052989.3(IFT122):c.757A>G (p.Ile253Val)
NM_052989.3(IFT122):c.760C>A (p.Leu254Met)
NM_052989.3(IFT122):c.784A>G (p.Lys262Glu)
NM_052989.3(IFT122):c.788T>C (p.Val263Ala)
NM_052989.3(IFT122):c.791C>T (p.Ser264Phe)
NM_052989.3(IFT122):c.797A>G (p.Tyr266Cys)
NM_052989.3(IFT122):c.806G>A (p.Ser269Asn) rs2108198145
NM_052989.3(IFT122):c.807T>G (p.Ser269Arg)
NM_052989.3(IFT122):c.816+17A>G
NM_052989.3(IFT122):c.817A>G (p.Ile273Val)
NM_052989.3(IFT122):c.830G>A (p.Arg277Gln)
NM_052989.3(IFT122):c.852C>G (p.Cys284Trp) rs1268071941
NM_052989.3(IFT122):c.888G>T (p.Leu296Phe)
NM_052989.3(IFT122):c.920T>C (p.Phe307Ser)
NM_052989.3(IFT122):c.928G>A (p.Asp310Asn)
NM_052989.3(IFT122):c.932G>A (p.Gly311Glu)
NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)
NM_052989.3(IFT122):c.977C>T (p.Thr326Met) rs1389723772
NM_052989.3(IFT122):c.998C>A (p.Ser333Tyr)
NM_138701.4(MPLKIP):c.372del (p.Arg126fs)
NM_138701.4(MPLKIP):c.49G>A (p.Gly17Ser) rs201269559
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)
NM_144991.3(TSPEAR):c.1882G>A (p.Ala628Thr)
NM_144991.3(TSPEAR):c.358G>A (p.Gly120Ser) rs138031432
NM_145861.4(EDARADD):c.*1012A>G rs572366811
NM_145861.4(EDARADD):c.*115A>G rs886046188
NM_145861.4(EDARADD):c.*1262C>T rs956560100
NM_145861.4(EDARADD):c.*1723G>A rs940030231
NM_145861.4(EDARADD):c.*1788G>A rs1053380939
NM_145861.4(EDARADD):c.*1962C>T rs111987152
NM_145861.4(EDARADD):c.*2018C>G rs886046198
NM_145861.4(EDARADD):c.*354G>C rs886046190
NM_145861.4(EDARADD):c.*558C>T rs1309549108
NM_145861.4(EDARADD):c.*586T>C rs886046191
NM_145861.4(EDARADD):c.*746G>T rs745456566
NM_145861.4(EDARADD):c.*971C>T rs886046193
NM_145861.4(EDARADD):c.101G>A (p.Ser34Asn)
NM_145861.4(EDARADD):c.154C>T (p.Pro52Ser)
NM_145861.4(EDARADD):c.220-15C>T rs886046185
NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg)
NM_145861.4(EDARADD):c.22C>G (p.Gln8Glu)
NM_145861.4(EDARADD):c.302C>T (p.Thr101Ile) rs886046186
NM_145861.4(EDARADD):c.358G>C (p.Asp120His)
NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile) rs2103042601
NM_145861.4(EDARADD):c.404C>T (p.Thr135Met)
NM_145861.4(EDARADD):c.440G>T (p.Gly147Val) rs1659704734
NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe) rs2103042663
NM_145861.4(EDARADD):c.484A>G (p.Ser162Gly)
NM_145861.4(EDARADD):c.53A>G (p.His18Arg)
NM_145861.4(EDARADD):c.543G>T (p.Glu181Asp)
NM_145861.4(EDARADD):c.548_549del (p.Leu182_Cys183insTer)
NM_145861.4(EDARADD):c.571G>T (p.Val191Leu) rs375789023
NM_145861.4(EDARADD):c.80C>T (p.Pro27Leu)
NM_147127.5(EVC2):c.*105C>T rs1722029883
NM_147127.5(EVC2):c.*141A>G rs565382969
NM_147127.5(EVC2):c.-29C>A rs754218861
NM_147127.5(EVC2):c.1000C>T (p.His334Tyr)
NM_147127.5(EVC2):c.1004G>A (p.Arg335Gln)
NM_147127.5(EVC2):c.1006G>T (p.Val336Phe)
NM_147127.5(EVC2):c.101G>A (p.Ser34Asn) rs888701582
NM_147127.5(EVC2):c.1045A>G (p.Thr349Ala)
NM_147127.5(EVC2):c.1046C>T (p.Thr349Ile)
NM_147127.5(EVC2):c.1054G>C (p.Asp352His)
NM_147127.5(EVC2):c.1060G>A (p.Val354Met)
NM_147127.5(EVC2):c.1069G>T (p.Asp357Tyr)
NM_147127.5(EVC2):c.106C>T (p.Arg36Cys)
NM_147127.5(EVC2):c.1079T>A (p.Leu360His) rs774401542
NM_147127.5(EVC2):c.1082A>G (p.Asn361Ser)
NM_147127.5(EVC2):c.1087_1098del (p.Gln363_Asp366del) rs1553846622
NM_147127.5(EVC2):c.1089A>G (p.Gln363=)
NM_147127.5(EVC2):c.1112A>G (p.Glu371Gly)
NM_147127.5(EVC2):c.113G>C (p.Arg38Pro)
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)
NM_147127.5(EVC2):c.1171G>T (p.Ala391Ser)
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)
NM_147127.5(EVC2):c.1184T>A (p.Leu395Gln)
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys) rs2108864342
NM_147127.5(EVC2):c.1195C>G (p.Arg399Gly)
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)
NM_147127.5(EVC2):c.11C>G (p.Ser4Trp)
NM_147127.5(EVC2):c.1204A>G (p.Ile402Val)
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)
NM_147127.5(EVC2):c.1212_1214del (p.Lys404_Asp405delinsAsn) rs1553840668
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)
NM_147127.5(EVC2):c.121C>A (p.Pro41Thr)
NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr)
NM_147127.5(EVC2):c.1228C>G (p.Leu410Val)
NM_147127.5(EVC2):c.1239_1256del (p.Thr415_Leu420del)
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)
NM_147127.5(EVC2):c.1338_1340del (p.Glu446_Tyr447delinsAsp) rs1553840593
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)
NM_147127.5(EVC2):c.1351A>T (p.Met451Leu)
NM_147127.5(EVC2):c.1353G>A (p.Met451Ile)
NM_147127.5(EVC2):c.1374T>G (p.Cys458Trp) rs1717255624
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys) rs2108863818
NM_147127.5(EVC2):c.1393A>G (p.Lys465Glu)
NM_147127.5(EVC2):c.1397T>C (p.Met466Thr)
NM_147127.5(EVC2):c.139C>A (p.Pro47Thr)
NM_147127.5(EVC2):c.1402A>G (p.Asn468Asp)
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)
NM_147127.5(EVC2):c.142C>G (p.Arg48Gly)
NM_147127.5(EVC2):c.142C>T (p.Arg48Trp)
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)
NM_147127.5(EVC2):c.1457G>A (p.Arg486His)
NM_147127.5(EVC2):c.146_154del (p.Asp49_Gln51del) rs1553855096
NM_147127.5(EVC2):c.1470+6A>G
NM_147127.5(EVC2):c.1486A>G (p.Ser496Gly)
NM_147127.5(EVC2):c.148C>T (p.Pro50Ser)
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1514T>C (p.Leu505Pro)
NM_147127.5(EVC2):c.1516G>A (p.Glu506Lys)
NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)
NM_147127.5(EVC2):c.1543G>A (p.Ala515Thr)
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1556A>G (p.Glu519Gly)
NM_147127.5(EVC2):c.1562A>G (p.Asp521Gly)
NM_147127.5(EVC2):c.1574C>T (p.Ala525Val)
NM_147127.5(EVC2):c.1589C>A (p.Ala530Asp) rs1329925495
NM_147127.5(EVC2):c.1612C>T (p.His538Tyr)
NM_147127.5(EVC2):c.1616G>T (p.Ser539Ile)
NM_147127.5(EVC2):c.1619T>C (p.Ile540Thr)
NM_147127.5(EVC2):c.1634T>C (p.Ile545Thr)
NM_147127.5(EVC2):c.1637A>C (p.Lys546Thr)
NM_147127.5(EVC2):c.1643C>T (p.Ala548Val)
NM_147127.5(EVC2):c.1645A>G (p.Ile549Val)
NM_147127.5(EVC2):c.1661T>C (p.Leu554Ser)
NM_147127.5(EVC2):c.1666C>T (p.Pro556Ser) rs886059491
NM_147127.5(EVC2):c.166T>C (p.Ser56Pro)
NM_147127.5(EVC2):c.1672G>C (p.Ala558Pro)
NM_147127.5(EVC2):c.1675G>A (p.Ala559Thr)
NM_147127.5(EVC2):c.1688T>C (p.Leu563Pro)
NM_147127.5(EVC2):c.1700C>T (p.Ser567Phe)
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1731G>A (p.Met577Ile)
NM_147127.5(EVC2):c.1740C>G (p.Phe580Leu)
NM_147127.5(EVC2):c.1766G>C (p.Ser589Thr)
NM_147127.5(EVC2):c.176G>A (p.Gly59Asp)
NM_147127.5(EVC2):c.176G>C (p.Gly59Ala)
NM_147127.5(EVC2):c.1782C>G (p.His594Gln)
NM_147127.5(EVC2):c.1788_1793del (p.Tyr597_Leu598del)
NM_147127.5(EVC2):c.1802A>G (p.Asn601Ser) rs775815805
NM_147127.5(EVC2):c.1811C>T (p.Ser604Leu)
NM_147127.5(EVC2):c.1825G>A (p.Val609Met)
NM_147127.5(EVC2):c.184A>T (p.Ile62Phe)
NM_147127.5(EVC2):c.1859T>A (p.Leu620Gln) rs1560177469
NM_147127.5(EVC2):c.1861A>G (p.Thr621Ala)
NM_147127.5(EVC2):c.1886+3A>G rs2108846962
NM_147127.5(EVC2):c.1888G>A (p.Ala630Thr)
NM_147127.5(EVC2):c.1889C>G (p.Ala630Gly)
NM_147127.5(EVC2):c.1892G>T (p.Gly631Val)
NM_147127.5(EVC2):c.1926G>T (p.Leu642Phe) rs2108843340
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
NM_147127.5(EVC2):c.1949T>C (p.Phe650Ser)
NM_147127.5(EVC2):c.1977C>G (p.Asp659Glu)
NM_147127.5(EVC2):c.1994A>T (p.Lys665Ile)
NM_147127.5(EVC2):c.199A>G (p.Ser67Gly) rs1722347761
NM_147127.5(EVC2):c.2011T>G (p.Leu671Val)
NM_147127.5(EVC2):c.2046+11C>T
NM_147127.5(EVC2):c.2053G>A (p.Glu685Lys)
NM_147127.5(EVC2):c.2057A>G (p.Gln686Arg)
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
NM_147127.5(EVC2):c.2062A>G (p.Arg688Gly)
NM_147127.5(EVC2):c.2093G>A (p.Arg698Gln)
NM_147127.5(EVC2):c.2101G>C (p.Glu701Gln)
NM_147127.5(EVC2):c.2107G>A (p.Ala703Thr) rs1381479998
NM_147127.5(EVC2):c.2108C>T (p.Ala703Val)
NM_147127.5(EVC2):c.2124C>G (p.His708Gln)
NM_147127.5(EVC2):c.2130GAG[1] (p.Arg711del) rs1553833065
NM_147127.5(EVC2):c.2135G>A (p.Ser712Asn) rs371896802
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val) rs143662104
NM_147127.5(EVC2):c.2141T>C (p.Met714Thr)
NM_147127.5(EVC2):c.2144A>T (p.Glu715Val)
NM_147127.5(EVC2):c.214G>C (p.Glu72Gln)
NM_147127.5(EVC2):c.2156C>T (p.Ala719Val)
NM_147127.5(EVC2):c.2159C>A (p.Thr720Asn)
NM_147127.5(EVC2):c.2164_2172dup (p.Leu724_Gln725insGluGluLeu)
NM_147127.5(EVC2):c.2174A>T (p.Gln725Leu)
NM_147127.5(EVC2):c.2200G>A (p.Asp734Asn) rs1715808033
NM_147127.5(EVC2):c.2210G>A (p.Arg737Lys)
NM_147127.5(EVC2):c.2218A>G (p.Thr740Ala)
NM_147127.5(EVC2):c.2225C>T (p.Ser742Leu)
NM_147127.5(EVC2):c.2255G>A (p.Arg752Gln)
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
NM_147127.5(EVC2):c.2270C>T (p.Ser757Leu)
NM_147127.5(EVC2):c.227A>G (p.Gln76Arg) rs976833828
NM_147127.5(EVC2):c.2296C>T (p.Arg766Cys)
NM_147127.5(EVC2):c.2297G>A (p.Arg766His)
NM_147127.5(EVC2):c.2297G>T (p.Arg766Leu)
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser) rs1454769055
NM_147127.5(EVC2):c.2341G>A (p.Gly781Ser) rs1272970867
NM_147127.5(EVC2):c.2347_2349del (p.Glu783del) rs1553832710
NM_147127.5(EVC2):c.234G>C (p.Leu78Phe)
NM_147127.5(EVC2):c.2356G>T (p.Ala786Ser)
NM_147127.5(EVC2):c.2365G>A (p.Glu789Lys)
NM_147127.5(EVC2):c.2376G>C (p.Glu792Asp)
NM_147127.5(EVC2):c.2377G>C (p.Gly793Arg)
NM_147127.5(EVC2):c.2386A>G (p.Arg796Gly)
NM_147127.5(EVC2):c.2390A>C (p.Asp797Ala) rs931667385
NM_147127.5(EVC2):c.241A>T (p.Met81Leu)
NM_147127.5(EVC2):c.2421G>T (p.Arg807Ser)
NM_147127.5(EVC2):c.243G>A (p.Met81Ile)
NM_147127.5(EVC2):c.2443C>T (p.Pro815Ser)
NM_147127.5(EVC2):c.2467G>A (p.Ala823Thr)
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2479C>T (p.Arg827Cys)
NM_147127.5(EVC2):c.2482T>C (p.Trp828Arg)
NM_147127.5(EVC2):c.2490C>A (p.His830Gln)
NM_147127.5(EVC2):c.2506C>T (p.Leu836Phe)
NM_147127.5(EVC2):c.2512T>C (p.Ser838Pro)
NM_147127.5(EVC2):c.2518G>A (p.Val840Ile) rs2108833529
NM_147127.5(EVC2):c.2525C>G (p.Ser842Cys)
NM_147127.5(EVC2):c.253A>G (p.Lys85Glu)
NM_147127.5(EVC2):c.2585T>A (p.Met862Lys)
NM_147127.5(EVC2):c.2587G>A (p.Asp863Asn)
NM_147127.5(EVC2):c.2614C>T (p.Arg872Trp)
NM_147127.5(EVC2):c.2621G>C (p.Arg874Pro)
NM_147127.5(EVC2):c.2643G>C (p.Gln881His)
NM_147127.5(EVC2):c.2654G>A (p.Arg885Gln)
NM_147127.5(EVC2):c.2656G>A (p.Glu886Lys)
NM_147127.5(EVC2):c.2666T>C (p.Phe889Ser)
NM_147127.5(EVC2):c.2682G>C (p.Gln894His)
NM_147127.5(EVC2):c.2686G>A (p.Val896Met)
NM_147127.5(EVC2):c.2695C>T (p.Pro899Ser)
NM_147127.5(EVC2):c.2705A>G (p.Gln902Arg)
NM_147127.5(EVC2):c.2706G>C (p.Gln902His)
NM_147127.5(EVC2):c.2707-9C>A rs772234395
NM_147127.5(EVC2):c.2731C>T (p.Arg911Trp)
NM_147127.5(EVC2):c.2732G>C (p.Arg911Pro)
NM_147127.5(EVC2):c.2739G>T (p.Lys913Asn)
NM_147127.5(EVC2):c.2753G>C (p.Gly918Ala)
NM_147127.5(EVC2):c.2757G>T (p.Glu919Asp)
NM_147127.5(EVC2):c.2758C>A (p.Leu920Ile)
NM_147127.5(EVC2):c.2785A>G (p.Ile929Val)
NM_147127.5(EVC2):c.2815G>A (p.Asp939Asn)
NM_147127.5(EVC2):c.2834G>A (p.Arg945Gln)
NM_147127.5(EVC2):c.284-10T>G rs1192584069
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp) rs748869122
NM_147127.5(EVC2):c.2886C>G (p.Gly962=)
NM_147127.5(EVC2):c.2918A>T (p.Gln973Leu)
NM_147127.5(EVC2):c.2923G>T (p.Ala975Ser)
NM_147127.5(EVC2):c.2929C>T (p.Arg977Trp)
NM_147127.5(EVC2):c.2930G>A (p.Arg977Gln)
NM_147127.5(EVC2):c.2938G>A (p.Glu980Lys)
NM_147127.5(EVC2):c.2941A>T (p.Thr981Ser)
NM_147127.5(EVC2):c.2942C>G (p.Thr981Ser)
NM_147127.5(EVC2):c.2948C>T (p.Ser983Leu) rs536732931
NM_147127.5(EVC2):c.2957C>T (p.Thr986Ile)
NM_147127.5(EVC2):c.2959G>A (p.Ala987Thr) rs750392808
NM_147127.5(EVC2):c.2962CTC[1] (p.Leu989del) rs775393091
NM_147127.5(EVC2):c.2983C>G (p.Leu995Val) rs548381022
NM_147127.5(EVC2):c.2993A>T (p.Glu998Val)
NM_147127.5(EVC2):c.299G>A (p.Gly100Glu) rs886059493
NM_147127.5(EVC2):c.3010A>G (p.Met1004Val)
NM_147127.5(EVC2):c.3012G>A (p.Met1004Ile)
NM_147127.5(EVC2):c.3023C>G (p.Ser1008Trp) rs60809236
NM_147127.5(EVC2):c.303G>A (p.Met101Ile)
NM_147127.5(EVC2):c.3047C>T (p.Ser1016Leu)
NM_147127.5(EVC2):c.3086A>G (p.Glu1029Gly)
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)
NM_147127.5(EVC2):c.3115CAG[3] (p.Gln1042del) rs774915706
NM_147127.5(EVC2):c.3119A>C (p.Gln1040Pro) rs1722937250
NM_147127.5(EVC2):c.3141G>T (p.Trp1047Cys)
NM_147127.5(EVC2):c.3161G>T (p.Gly1054Val)
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
NM_147127.5(EVC2):c.3215C>T (p.Thr1072Ile)
NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr) rs182888222
NM_147127.5(EVC2):c.3237C>T (p.Ser1079=)
NM_147127.5(EVC2):c.3238A>C (p.Lys1080Gln)
NM_147127.5(EVC2):c.3240G>C (p.Lys1080Asn)
NM_147127.5(EVC2):c.3248C>T (p.Thr1083Ile)
NM_147127.5(EVC2):c.3269A>C (p.Gln1090Pro)
NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu) rs150215092
NM_147127.5(EVC2):c.32C>G (p.Thr11Arg)
NM_147127.5(EVC2):c.3305T>C (p.Leu1102Pro) rs1722816787
NM_147127.5(EVC2):c.3305T>G (p.Leu1102Arg)
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.3325A>G (p.Met1109Val)
NM_147127.5(EVC2):c.3356G>A (p.Ser1119Asn)
NM_147127.5(EVC2):c.3360+16C>G
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His) rs1577106433
NM_147127.5(EVC2):c.3377C>T (p.Ser1126Leu)
NM_147127.5(EVC2):c.3379T>C (p.Tyr1127His)
NM_147127.5(EVC2):c.3386C>A (p.Ala1129Glu)
NM_147127.5(EVC2):c.3386C>T (p.Ala1129Val)
NM_147127.5(EVC2):c.3395C>T (p.Ala1132Val)
NM_147127.5(EVC2):c.3397A>C (p.Met1133Leu)
NM_147127.5(EVC2):c.3397A>G (p.Met1133Val)
NM_147127.5(EVC2):c.3410C>T (p.Ala1137Val)
NM_147127.5(EVC2):c.3418C>T (p.Arg1140Cys)
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His) rs779684008
NM_147127.5(EVC2):c.3421C>T (p.Arg1141Trp)
NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
NM_147127.5(EVC2):c.3436G>A (p.Val1146Ile)
NM_147127.5(EVC2):c.3449C>A (p.Ala1150Asp)
NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)
NM_147127.5(EVC2):c.3487_3489del (p.Thr1163del) rs1553813318
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
NM_147127.5(EVC2):c.3506A>G (p.His1169Arg)
NM_147127.5(EVC2):c.3511G>A (p.Ala1171Thr)
NM_147127.5(EVC2):c.3520G>A (p.Asp1174Asn)
NM_147127.5(EVC2):c.3524G>T (p.Gly1175Val)
NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)
NM_147127.5(EVC2):c.3544G>A (p.Val1182Met)
NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu)
NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu) rs144511301
NM_147127.5(EVC2):c.3544_3545delinsTC (p.Val1182Ser)
NM_147127.5(EVC2):c.3552G>T (p.Arg1184Ser)
NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)
NM_147127.5(EVC2):c.3554G>A (p.Arg1185Gln)
NM_147127.5(EVC2):c.3558G>A (p.Arg1186=)
NM_147127.5(EVC2):c.3593A>T (p.Lys1198Ile)
NM_147127.5(EVC2):c.3599GAG[1] (p.Gly1201del) rs1227016096
NM_147127.5(EVC2):c.3604G>T (p.Asp1202Tyr) rs752599166
NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)
NM_147127.5(EVC2):c.3659+3A>C
NM_147127.5(EVC2):c.3659+3A>G
NM_147127.5(EVC2):c.3659+5T>C rs1722200321
NM_147127.5(EVC2):c.3659+6G>A
NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)
NM_147127.5(EVC2):c.3689del (p.Arg1230fs)
NM_147127.5(EVC2):c.3703T>C (p.Phe1235Leu) rs794727367
NM_147127.5(EVC2):c.3716G>A (p.Gly1239Glu)
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg) rs1399603571
NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)
NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)
NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)
NM_147127.5(EVC2):c.3778del (p.Ala1260fs)
NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val) rs894829697
NM_147127.5(EVC2):c.3787A>T (p.Ile1263Phe)
NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)
NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)
NM_147127.5(EVC2):c.3863del (p.Pro1288fs) rs1553811729
NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del) rs752839237
NM_147127.5(EVC2):c.388T>C (p.Phe130Leu)
NM_147127.5(EVC2):c.3911C>T (p.Ala1304Val) rs1722037682
NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)
NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)
NM_147127.5(EVC2):c.427G>A (p.Glu143Lys) rs1721325369
NM_147127.5(EVC2):c.431C>T (p.Ser144Phe)
NM_147127.5(EVC2):c.434C>A (p.Pro145His)
NM_147127.5(EVC2):c.434C>G (p.Pro145Arg)
NM_147127.5(EVC2):c.434C>T (p.Pro145Leu)
NM_147127.5(EVC2):c.436A>G (p.Ile146Val)
NM_147127.5(EVC2):c.445C>T (p.Arg149Cys)
NM_147127.5(EVC2):c.460A>G (p.Ile154Val)
NM_147127.5(EVC2):c.49G>T (p.Gly17Cys)
NM_147127.5(EVC2):c.509A>T (p.Lys170Ile) rs2151733915
NM_147127.5(EVC2):c.550C>G (p.Arg184Gly)
NM_147127.5(EVC2):c.555A>G (p.Ile185Met) rs2151731889
NM_147127.5(EVC2):c.556T>C (p.Trp186Arg) rs1342830628
NM_147127.5(EVC2):c.55C>A (p.Leu19Met) rs1722364834
NM_147127.5(EVC2):c.565G>C (p.Val189Leu)
NM_147127.5(EVC2):c.566T>A (p.Val189Asp)
NM_147127.5(EVC2):c.571A>G (p.Asn191Asp) rs1560228138
NM_147127.5(EVC2):c.584C>T (p.Thr195Ile)
NM_147127.5(EVC2):c.596A>G (p.Asn199Ser) rs567458437
NM_147127.5(EVC2):c.597C>T (p.Asn199=) rs1003816966
NM_147127.5(EVC2):c.610C>T (p.Leu204Phe)
NM_147127.5(EVC2):c.616C>G (p.Leu206Val)
NM_147127.5(EVC2):c.634C>G (p.Leu212Val)
NM_147127.5(EVC2):c.638C>T (p.Thr213Ile) rs2151731712
NM_147127.5(EVC2):c.646G>A (p.Asp216Asn)
NM_147127.5(EVC2):c.649T>C (p.Ser217Pro)
NM_147127.5(EVC2):c.656G>A (p.Gly219Glu) rs1720935592
NM_147127.5(EVC2):c.662G>A (p.Arg221Lys)
NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)
NM_147127.5(EVC2):c.706+6A>G
NM_147127.5(EVC2):c.722C>T (p.Ala241Val)
NM_147127.5(EVC2):c.734C>A (p.Ala245Glu) rs1720636458
NM_147127.5(EVC2):c.740C>T (p.Thr247Met)
NM_147127.5(EVC2):c.746A>C (p.Gln249Pro)
NM_147127.5(EVC2):c.748G>A (p.Ala250Thr)
NM_147127.5(EVC2):c.749C>T (p.Ala250Val)
NM_147127.5(EVC2):c.760G>A (p.Gly254Arg)
NM_147127.5(EVC2):c.766G>A (p.Gly256Arg)
NM_147127.5(EVC2):c.773G>T (p.Ser258Ile)
NM_147127.5(EVC2):c.787G>A (p.Ala263Thr)
NM_147127.5(EVC2):c.797C>G (p.Thr266Ser)
NM_147127.5(EVC2):c.797C>T (p.Thr266Ile)
NM_147127.5(EVC2):c.7C>T (p.Pro3Ser)
NM_147127.5(EVC2):c.80G>C (p.Gly27Ala)
NM_147127.5(EVC2):c.83G>A (p.Arg28Gln)
NM_147127.5(EVC2):c.844T>A (p.Ser282Thr)
NM_147127.5(EVC2):c.845C>G (p.Ser282Cys)
NM_147127.5(EVC2):c.845C>T (p.Ser282Phe)
NM_147127.5(EVC2):c.847A>G (p.Ile283Val)
NM_147127.5(EVC2):c.856G>A (p.Glu286Lys)
NM_147127.5(EVC2):c.857A>G (p.Glu286Gly) rs1720323516
NM_147127.5(EVC2):c.864C>G (p.Asn288Lys) rs144730069
NM_147127.5(EVC2):c.865G>C (p.Val289Leu)
NM_147127.5(EVC2):c.874C>G (p.Leu292Val) rs772759691
NM_147127.5(EVC2):c.886G>A (p.Gly296Ser)
NM_147127.5(EVC2):c.887G>T (p.Gly296Val)
NM_147127.5(EVC2):c.889C>G (p.Leu297Val) rs886059492
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.938C>G (p.Thr313Ser)
NM_147127.5(EVC2):c.950T>C (p.Leu317Pro)
NM_147127.5(EVC2):c.960G>C (p.Met320Ile)
NM_147127.5(EVC2):c.964C>T (p.Arg322Cys)
NM_147127.5(EVC2):c.99_131del (p.Ser34_Ala44del) rs1553855115
NM_153717.3(EVC):c.*1019A>C rs13147919
NM_153717.3(EVC):c.*1073C>T rs1271610715
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1199G>A rs1315669218
NM_153717.3(EVC):c.*1257G>T rs1013315409
NM_153717.3(EVC):c.*1277A>C rs1259649075
NM_153717.3(EVC):c.*1338C>T rs1717063885
NM_153717.3(EVC):c.*1394T>C rs1375474161
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1428C>G rs574764934
NM_153717.3(EVC):c.*1512T>C rs576620294
NM_153717.3(EVC):c.*1515A>T rs545639856
NM_153717.3(EVC):c.*1545T>G rs1328816482
NM_153717.3(EVC):c.*2303T>A rs915952245
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2468C>G rs1717227616
NM_153717.3(EVC):c.*2490C>G rs145238482
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*2692G>A rs149155153
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*3046G>C rs934986465
NM_153717.3(EVC):c.*3121C>G rs1717320370
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*3T>G rs368249789
NM_153717.3(EVC):c.*582C>A rs1716916256
NM_153717.3(EVC):c.*619C>G rs1716921490
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*798T>G rs13101313
NM_153717.3(EVC):c.*844C>G rs1180694671
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.*956C>G rs761012202
NM_153717.3(EVC):c.*967T>G rs182343325
NM_153717.3(EVC):c.*995T>A rs71599846
NM_153717.3(EVC):c.-138GA[1] rs886059494
NM_153717.3(EVC):c.1019G>C (p.Arg340Pro)
NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1050G>C (p.Met350Ile) rs1729670311
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
NM_153717.3(EVC):c.1078T>C (p.Ser360Pro) rs1729675412
NM_153717.3(EVC):c.1084_1086del (p.Glu362del) rs1553873980
NM_153717.3(EVC):c.1094C>A (p.Ala365Asp)
NM_153717.3(EVC):c.1099-19_1099-18inv
NM_153717.3(EVC):c.1109A>T (p.Glu370Val) rs778032532
NM_153717.3(EVC):c.1119G>A (p.Met373Ile) rs1397539769
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
NM_153717.3(EVC):c.1135G>T (p.Ala379Ser) rs760174792
NM_153717.3(EVC):c.1141G>A (p.Val381Met) rs2152076238
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr) rs886059505
NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1]) rs1164121689
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1186C>G (p.Arg396Gly)
NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)
NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
NM_153717.3(EVC):c.1226G>T (p.Gly409Val) rs1577440027
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
NM_153717.3(EVC):c.1243G>A (p.Gly415Arg)
NM_153717.3(EVC):c.1252_1254del (p.Lys418del) rs1553875708
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys) rs373502728
NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
NM_153717.3(EVC):c.1269GCA[2] (p.Gln425del) rs1553875724
NM_153717.3(EVC):c.127_132dup (p.39_40GL[4]) rs1553857987
NM_153717.3(EVC):c.1286_1288del (p.Phe429del) rs1553875733
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
NM_153717.3(EVC):c.1379C>T (p.Ala460Val) rs1309149029
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
NM_153717.3(EVC):c.1465-5C>T rs1731155996
NM_153717.3(EVC):c.147C>T (p.Arg49=) rs1723020172
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1528G>C (p.Val510Leu) rs143971158
NM_153717.3(EVC):c.1564-3C>T rs747435572
NM_153717.3(EVC):c.1589C>T (p.Thr530Ile) rs1735956373
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1607A>G (p.Asp536Gly)
NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys) rs539010490
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly) rs141820870
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu) rs1383180
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu) rs1736003818
NM_153717.3(EVC):c.1776+4C>T
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1786GAG[1] (p.Glu597del) rs764533114
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe) rs1713205522
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
NM_153717.3(EVC):c.1850G>T (p.Arg617Leu) rs771110251
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
NM_153717.3(EVC):c.1894C>T (p.Arg632Trp)
NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)
NM_153717.3(EVC):c.1895G>C (p.Arg632Pro) rs535632933
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg) rs757227773
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del) rs1553891170
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro) rs35401386
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del) rs1553891205
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser) rs1577616840
NM_153717.3(EVC):c.1988G>C (p.Arg663Pro) rs372089496
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro) rs2152340934
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly) rs545087909
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.2105G>A (p.Arg702His)
NM_153717.3(EVC):c.2114AGG[1] (p.Glu706del) rs1553891884
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln) rs1430134537
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
NM_153717.3(EVC):c.2143C>G (p.Gln715Glu) rs971647538
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
NM_153717.3(EVC):c.218C>T (p.Ala73Val) rs1361442490
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
NM_153717.3(EVC):c.2264C>T (p.Ala755Val)
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2335G>A (p.Val779Ile) rs376396220
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser) rs149537641
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2395A>G (p.Arg799Gly) rs1715095634
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp) rs886059506
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup) rs1553893407
NM_153717.3(EVC):c.2441C>T (p.Thr814Ile) rs1715104252
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+5G>A
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser) rs1446692986
NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)
NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
NM_153717.3(EVC):c.2561+12_2561+23del rs1199616057
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
NM_153717.3(EVC):c.2618G>A (p.Arg873His)
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
NM_153717.3(EVC):c.2653G>A (p.Asp885Asn) rs1241844907
NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC rs1553895769
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln) rs1489027267
NM_153717.3(EVC):c.2783-3C>A
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs) rs1460851298
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
NM_153717.3(EVC):c.2842del (p.Val948fs)
NM_153717.3(EVC):c.2842dup (p.Val948fs) rs1553896459
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser) rs2152394584
NM_153717.3(EVC):c.2878A>G (p.Thr960Ala) rs2152394644
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser) rs780548102
NM_153717.3(EVC):c.2885G>T (p.Gly962Val)
NM_153717.3(EVC):c.2893dup (p.Ser965fs) rs1553896497
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
NM_153717.3(EVC):c.2894+4T>A rs746636411
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs) rs1553896708
NM_153717.3(EVC):c.2920del (p.Ser974fs) rs1370417156
NM_153717.3(EVC):c.2925A>C (p.Glu975Asp) rs1399872123
NM_153717.3(EVC):c.2927C>T (p.Ala976Val)
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg) rs1716842535
NM_153717.3(EVC):c.300+3A>G
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del) rs1553865272
NM_153717.3(EVC):c.34G>C (p.Ala12Pro) rs1369066723
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_153717.3(EVC):c.385-3C>T rs2151934859
NM_153717.3(EVC):c.40CTG[2] (p.Leu16del) rs1553857864
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
NM_153717.3(EVC):c.437C>G (p.Ala146Gly) rs2151935147
NM_153717.3(EVC):c.46C>T (p.Leu16=) rs1722990488
NM_153717.3(EVC):c.493A>G (p.Ser165Gly) rs1259803475
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
NM_153717.3(EVC):c.581G>C (p.Arg194Pro) rs777256784
NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.58G>C (p.Ala20Pro) rs1359522467
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
NM_153717.3(EVC):c.65G>C (p.Arg22Pro) rs2151767266
NM_153717.3(EVC):c.696G>C (p.Lys232Asn) rs371664035
NM_153717.3(EVC):c.698A>C (p.His233Pro)
NM_153717.3(EVC):c.698A>G (p.His233Arg) rs769431829
NM_153717.3(EVC):c.700A>G (p.Met234Val)
NM_153717.3(EVC):c.719T>G (p.Phe240Cys) rs2152000493
NM_153717.3(EVC):c.726G>A (p.Met242Ile)
NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup) rs1553857901
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.734T>A (p.Leu245His)
NM_153717.3(EVC):c.740TTC[1] (p.Leu248del) rs1278946084
NM_153717.3(EVC):c.751AAG[1] (p.Lys252del) rs1232712590
NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del) rs1553857904
NM_153717.3(EVC):c.809A>C (p.Glu270Ala) rs1428021249
NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
NM_153717.3(EVC):c.83T>C (p.Leu28Pro) rs1256100832
NM_153717.3(EVC):c.857C>G (p.Ser286Trp) rs139263450
NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
NM_153717.3(EVC):c.939T>A (p.Asn313Lys) rs764394644
NM_153717.3(EVC):c.940A>G (p.Met314Val) rs557010916
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup) rs1229967881
NM_172232.4(ABCA5):c.3020C>T (p.Pro1007Leu)
NM_198253.3(TERT):c.*308A>G rs1747469600
NM_198253.3(TERT):c.-57A>G rs878855297
NM_198253.3(TERT):c.-57A>T
NM_198253.3(TERT):c.-57del rs1751310344
NM_198253.3(TERT):c.1001C>T (p.Ser334Phe)
NM_198253.3(TERT):c.1003T>C (p.Ser335Pro) rs1478631964
NM_198253.3(TERT):c.1007G>A (p.Gly336Asp) rs1751172254
NM_198253.3(TERT):c.1009G>A (p.Asp337Asn) rs2126686381
NM_198253.3(TERT):c.1009G>T (p.Asp337Tyr) rs2126686381
NM_198253.3(TERT):c.1010A>G (p.Asp337Gly)
NM_198253.3(TERT):c.1011C>G (p.Asp337Glu)
NM_198253.3(TERT):c.1012A>C (p.Lys338Gln) rs1032442071
NM_198253.3(TERT):c.1018C>A (p.Gln340Lys) rs1561213862
NM_198253.3(TERT):c.1018C>G (p.Gln340Glu)
NM_198253.3(TERT):c.101A>C (p.Gln34Pro)
NM_198253.3(TERT):c.1024C>T (p.Arg342Trp)
NM_198253.3(TERT):c.1033T>C (p.Phe345Leu)
NM_198253.3(TERT):c.1034T>A (p.Phe345Tyr)
NM_198253.3(TERT):c.1036C>G (p.Leu346Val) rs1751169610
NM_198253.3(TERT):c.1037T>C (p.Leu346Pro) rs2126686240
NM_198253.3(TERT):c.1042A>G (p.Ser348Gly)
NM_198253.3(TERT):c.1044C>G (p.Ser348Arg) rs1751169034
NM_198253.3(TERT):c.1046C>G (p.Ser349Cys) rs904848231
NM_198253.3(TERT):c.1046C>T (p.Ser349Phe) rs904848231
NM_198253.3(TERT):c.1048C>A (p.Leu350Met) rs2126686184
NM_198253.3(TERT):c.104G>A (p.Gly35Asp) rs2126692114
NM_198253.3(TERT):c.104G>T (p.Gly35Val)
NM_198253.3(TERT):c.1051A>G (p.Arg351Gly) rs1579597068
NM_198253.3(TERT):c.1055C>G (p.Pro352Arg)
NM_198253.3(TERT):c.1057A>G (p.Ser353Gly)
NM_198253.3(TERT):c.1067G>C (p.Gly356Ala) rs1307031795
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.1072C>G (p.Arg358Gly)
NM_198253.3(TERT):c.1072C>T (p.Arg358Trp)
NM_198253.3(TERT):c.1073G>C (p.Arg358Pro)
NM_198253.3(TERT):c.1073G>T (p.Arg358Leu)
NM_198253.3(TERT):c.1078C>T (p.Leu360Phe)
NM_198253.3(TERT):c.1081G>C (p.Val361Leu) rs1751165031
NM_198253.3(TERT):c.1088C>T (p.Thr363Ile) rs2126686038
NM_198253.3(TERT):c.1094T>C (p.Phe365Ser)
NM_198253.3(TERT):c.109C>G (p.Arg37Gly) rs2126692072
NM_198253.3(TERT):c.10G>C (p.Ala4Pro) rs1579599369
NM_198253.3(TERT):c.1103C>A (p.Ser368Tyr)
NM_198253.3(TERT):c.1103C>T (p.Ser368Phe) rs1751163294
NM_198253.3(TERT):c.1105A>G (p.Arg369Gly) rs1561213793
NM_198253.3(TERT):c.1109C>A (p.Pro370His)
NM_198253.3(TERT):c.1109C>G (p.Pro370Arg)
NM_198253.3(TERT):c.110G>A (p.Arg37Gln) rs1239502548
NM_198253.3(TERT):c.110G>C (p.Arg37Pro)
NM_198253.3(TERT):c.110G>T (p.Arg37Leu)
NM_198253.3(TERT):c.1114A>G (p.Met372Val)
NM_198253.3(TERT):c.1116G>A (p.Met372Ile)
NM_198253.3(TERT):c.1117C>T (p.Pro373Ser) rs1751162009
NM_198253.3(TERT):c.1118C>G (p.Pro373Arg)
NM_198253.3(TERT):c.1120G>A (p.Gly374Arg)
NM_198253.3(TERT):c.1121G>A (p.Gly374Glu) rs778585289
NM_198253.3(TERT):c.1123A>G (p.Thr375Ala) rs1751161082
NM_198253.3(TERT):c.1124C>G (p.Thr375Ser)
NM_198253.3(TERT):c.1124C>T (p.Thr375Ile)
NM_198253.3(TERT):c.1127C>T (p.Pro376Leu)
NM_198253.3(TERT):c.1129C>T (p.Arg377Cys)
NM_198253.3(TERT):c.112C>A (p.Leu38Met) rs1004308241
NM_198253.3(TERT):c.1132A>G (p.Arg378Gly)
NM_198253.3(TERT):c.1133G>A (p.Arg378Lys)
NM_198253.3(TERT):c.1134G>T (p.Arg378Ser) rs1751159479
NM_198253.3(TERT):c.1138C>A (p.Pro380Thr) rs144756946
NM_198253.3(TERT):c.1142G>A (p.Arg381His) rs777343359
NM_198253.3(TERT):c.1142G>T (p.Arg381Leu)
NM_198253.3(TERT):c.1144C>G (p.Leu382Val) rs994804257
NM_198253.3(TERT):c.1147C>T (p.Pro383Ser)
NM_198253.3(TERT):c.1151A>G (p.Gln384Arg) rs1167344136
NM_198253.3(TERT):c.1151A>T (p.Gln384Leu) rs1167344136
NM_198253.3(TERT):c.1152G>C (p.Gln384His) rs1751157044
NM_198253.3(TERT):c.1152G>T (p.Gln384His)
NM_198253.3(TERT):c.1153C>T (p.Arg385Cys) rs1751156834
NM_198253.3(TERT):c.1154G>A (p.Arg385His)
NM_198253.3(TERT):c.1156T>A (p.Tyr386Asn)
NM_198253.3(TERT):c.1156T>C (p.Tyr386His)
NM_198253.3(TERT):c.1157A>G (p.Tyr386Cys)
NM_198253.3(TERT):c.115G>T (p.Val39Leu) rs1751294892
NM_198253.3(TERT):c.1168C>T (p.Arg390Trp) rs1751155596
NM_198253.3(TERT):c.1169G>A (p.Arg390Gln) rs1751155418
NM_198253.3(TERT):c.1169G>C (p.Arg390Pro)
NM_198253.3(TERT):c.1172C>T (p.Pro391Leu)
NM_198253.3(TERT):c.1186C>G (p.Leu396Val)
NM_198253.3(TERT):c.1190T>G (p.Leu397Arg)
NM_198253.3(TERT):c.1192G>A (p.Gly398Arg)
NM_198253.3(TERT):c.1192G>T (p.Gly398Trp)
NM_198253.3(TERT):c.1193G>A (p.Gly398Glu) rs1554042874
NM_198253.3(TERT):c.1196A>G (p.Asn399Ser) rs1561213697
NM_198253.3(TERT):c.119A>T (p.Gln40Leu) rs1751294652
NM_198253.3(TERT):c.1201G>T (p.Ala401Ser) rs370887827
NM_198253.3(TERT):c.1202C>T (p.Ala401Val) rs539667998
NM_198253.3(TERT):c.1205A>G (p.Gln402Arg)
NM_198253.3(TERT):c.120G>C (p.Gln40His) rs1751294429
NM_198253.3(TERT):c.1210C>G (p.Pro404Ala) rs1561213668
NM_198253.3(TERT):c.1210C>T (p.Pro404Ser) rs1561213668
NM_198253.3(TERT):c.1211C>G (p.Pro404Arg) rs1060503008
NM_198253.3(TERT):c.1211C>T (p.Pro404Leu)
NM_198253.3(TERT):c.1216G>A (p.Gly406Arg) rs866101734
NM_198253.3(TERT):c.1217G>A (p.Gly406Glu)
NM_198253.3(TERT):c.1217G>T (p.Gly406Val)
NM_198253.3(TERT):c.1219G>A (p.Val407Met) rs1751148544
NM_198253.3(TERT):c.1219G>C (p.Val407Leu) rs1751148544
NM_198253.3(TERT):c.121C>G (p.Arg41Gly)
NM_198253.3(TERT):c.121C>T (p.Arg41Cys)
NM_198253.3(TERT):c.1231A>G (p.Thr411Ala)
NM_198253.3(TERT):c.1235A>G (p.His412Arg)
NM_198253.3(TERT):c.1238G>A (p.Cys413Tyr) rs1214280692
NM_198253.3(TERT):c.1240C>T (p.Pro414Ser) rs2126685248
NM_198253.3(TERT):c.1244T>G (p.Leu415Arg) rs1561213606
NM_198253.3(TERT):c.1249G>C (p.Ala417Pro) rs1238733587
NM_198253.3(TERT):c.124G>A (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.1250C>G (p.Ala417Gly) rs1440396485
NM_198253.3(TERT):c.1250C>T (p.Ala417Val) rs1440396485
NM_198253.3(TERT):c.1255G>T (p.Val419Phe) rs1189188708
NM_198253.3(TERT):c.1255_1257delinsTTT (p.Val419Phe)
NM_198253.3(TERT):c.1258A>G (p.Thr420Ala) rs2126685146
NM_198253.3(TERT):c.1258A>T (p.Thr420Ser) rs2126685146
NM_198253.3(TERT):c.1259C>A (p.Thr420Asn)
NM_198253.3(TERT):c.1261C>T (p.Pro421Ser) rs773246847
NM_198253.3(TERT):c.1262C>T (p.Pro421Leu)
NM_198253.3(TERT):c.1264G>C (p.Ala422Pro)
NM_198253.3(TERT):c.1265C>G (p.Ala422Gly) rs2126685086
NM_198253.3(TERT):c.1267G>A (p.Ala423Thr)
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.1274T>A (p.Val425Asp)
NM_198253.3(TERT):c.1277G>C (p.Cys426Ser)
NM_198253.3(TERT):c.1278T>G (p.Cys426Trp) rs1326706015
NM_198253.3(TERT):c.1279G>A (p.Ala427Thr)
NM_198253.3(TERT):c.127G>A (p.Asp43Asn) rs1579599236
NM_198253.3(TERT):c.1280C>T (p.Ala427Val) rs2126685035
NM_198253.3(TERT):c.1282C>G (p.Arg428Gly)
NM_198253.3(TERT):c.1285G>A (p.Glu429Lys) rs1561213553
NM_198253.3(TERT):c.1290G>T (p.Lys430Asn)
NM_198253.3(TERT):c.1291C>A (p.Pro431Thr) rs1751140045
NM_198253.3(TERT):c.1292C>A (p.Pro431His) rs1164823749
NM_198253.3(TERT):c.1295A>C (p.Gln432Pro)
NM_198253.3(TERT):c.1303G>T (p.Val435Leu)
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.1309G>T (p.Ala437Ser) rs2126684878
NM_198253.3(TERT):c.1310C>T (p.Ala437Val) rs1554042841
NM_198253.3(TERT):c.1313C>A (p.Pro438His) rs2126684855
NM_198253.3(TERT):c.1315G>A (p.Glu439Lys) rs747463378
NM_198253.3(TERT):c.1315G>C (p.Glu439Gln) rs747463378
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1318G>A (p.Glu440Lys) rs2126684803
NM_198253.3(TERT):c.1319A>G (p.Glu440Gly)
NM_198253.3(TERT):c.1319A>T (p.Glu440Val)
NM_198253.3(TERT):c.131C>T (p.Pro44Leu) rs2126691833
NM_198253.3(TERT):c.1321G>A (p.Glu441Lys)
NM_198253.3(TERT):c.1322_1336dup (p.Pro445_Arg446insGlnAspThrAspPro)
NM_198253.3(TERT):c.1327A>C (p.Thr443Pro) rs1030586939
NM_198253.3(TERT):c.1328C>A (p.Thr443Lys) rs772257175
NM_198253.3(TERT):c.1328C>G (p.Thr443Arg) rs772257175
NM_198253.3(TERT):c.1332C>A (p.Asp444Glu) rs748983668
NM_198253.3(TERT):c.1334C>G (p.Pro445Arg) rs956854933
NM_198253.3(TERT):c.1336C>G (p.Arg446Gly) rs567650961
NM_198253.3(TERT):c.1336C>T (p.Arg446Cys) rs567650961
NM_198253.3(TERT):c.1339C>G (p.Arg447Gly)
NM_198253.3(TERT):c.1340G>A (p.Arg447His) rs1751132830
NM_198253.3(TERT):c.1340G>T (p.Arg447Leu)
NM_198253.3(TERT):c.1342C>G (p.Leu448Val)
NM_198253.3(TERT):c.1343T>C (p.Leu448Pro)
NM_198253.3(TERT):c.1345G>C (p.Val449Leu)
NM_198253.3(TERT):c.134C>T (p.Ala45Val)
NM_198253.3(TERT):c.1350G>T (p.Gln450His)
NM_198253.3(TERT):c.1357C>T (p.Arg453Cys)
NM_198253.3(TERT):c.1358G>A (p.Arg453His)
NM_198253.3(TERT):c.1361A>G (p.Gln454Arg) rs2126684552
NM_198253.3(TERT):c.1361A>T (p.Gln454Leu) rs2126684552
NM_198253.3(TERT):c.1362G>C (p.Gln454His)
NM_198253.3(TERT):c.1364A>T (p.His455Leu) rs781329984
NM_198253.3(TERT):c.1367G>C (p.Ser456Thr)
NM_198253.3(TERT):c.1369A>G (p.Ser457Gly)
NM_198253.3(TERT):c.136G>A (p.Ala46Thr) rs1579599228
NM_198253.3(TERT):c.136G>T (p.Ala46Ser) rs1579599228
NM_198253.3(TERT):c.1372C>A (p.Pro458Thr) rs1579596485
NM_198253.3(TERT):c.1377G>T (p.Trp459Cys) rs2126684488
NM_198253.3(TERT):c.1382T>C (p.Val461Ala)
NM_198253.3(TERT):c.1384T>A (p.Tyr462Asn)
NM_198253.3(TERT):c.1387G>A (p.Gly463Ser) rs1751127777
NM_198253.3(TERT):c.1387G>C (p.Gly463Arg)
NM_198253.3(TERT):c.1387G>T (p.Gly463Cys)
NM_198253.3(TERT):c.1388G>C (p.Gly463Ala) rs2126684423
NM_198253.3(TERT):c.1390T>A (p.Phe464Ile)
NM_198253.3(TERT):c.1390T>C (p.Phe464Leu)
NM_198253.3(TERT):c.1392C>G (p.Phe464Leu)
NM_198253.3(TERT):c.1393G>T (p.Val465Leu)
NM_198253.3(TERT):c.13C>A (p.Pro5Thr)
NM_198253.3(TERT):c.1401C>T (p.Ala467=) rs1751126189
NM_198253.3(TERT):c.1405C>A (p.Leu469Met)
NM_198253.3(TERT):c.1408C>T (p.Arg470Cys) rs1482602039
NM_198253.3(TERT):c.1409G>A (p.Arg470His)
NM_198253.3(TERT):c.1411C>T (p.Arg471Trp) rs750721558
NM_198253.3(TERT):c.1414C>G (p.Leu472Val)
NM_198253.3(TERT):c.1417G>C (p.Val473Leu) rs1554042817
NM_198253.3(TERT):c.1417G>T (p.Val473Leu)
NM_198253.3(TERT):c.1420C>T (p.Pro474Ser) rs1302718699
NM_198253.3(TERT):c.1421C>T (p.Pro474Leu) rs1751124049
NM_198253.3(TERT):c.1424C>T (p.Pro475Leu)
NM_198253.3(TERT):c.1426G>A (p.Gly476Ser)
NM_198253.3(TERT):c.1427G>A (p.Gly476Asp)
NM_198253.3(TERT):c.142C>G (p.Arg48Gly) rs1554043151
NM_198253.3(TERT):c.142C>T (p.Arg48Cys) rs1554043151
NM_198253.3(TERT):c.1436G>A (p.Gly479Asp) rs1579596341
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro) rs917650159
NM_198253.3(TERT):c.1439C>G (p.Ser480Cys)
NM_198253.3(TERT):c.143G>A (p.Arg48His) rs1751291943
NM_198253.3(TERT):c.1444C>A (p.His482Asn)
NM_198253.3(TERT):c.1447A>G (p.Asn483Asp)
NM_198253.3(TERT):c.1448A>G (p.Asn483Ser) rs2126684107
NM_198253.3(TERT):c.1449C>A (p.Asn483Lys)
NM_198253.3(TERT):c.1449C>G (p.Asn483Lys)
NM_198253.3(TERT):c.1450G>A (p.Glu484Lys) rs1561213355
NM_198253.3(TERT):c.1450G>C (p.Glu484Gln) rs1561213355
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1457G>A (p.Arg486His) rs1179486322
NM_198253.3(TERT):c.145G>C (p.Ala49Pro)
NM_198253.3(TERT):c.145_146delinsTT (p.Ala49Leu)
NM_198253.3(TERT):c.1469A>G (p.Asn490Ser)
NM_198253.3(TERT):c.1478A>G (p.Lys493Arg)
NM_198253.3(TERT):c.1478A>T (p.Lys493Met)
NM_198253.3(TERT):c.1480T>C (p.Phe494Leu)
NM_198253.3(TERT):c.1483A>C (p.Ile495Leu) rs1561213308
NM_198253.3(TERT):c.1486T>A (p.Ser496Thr) rs1751117262
NM_198253.3(TERT):c.1487C>G (p.Ser496Cys)
NM_198253.3(TERT):c.1492G>A (p.Gly498Arg) rs2126683901
NM_198253.3(TERT):c.1499A>T (p.His500Leu) rs2126683887
NM_198253.3(TERT):c.1505A>G (p.Lys502Arg) rs896201074
NM_198253.3(TERT):c.1506G>C (p.Lys502Asn)
NM_198253.3(TERT):c.1511C>G (p.Ser504Trp) rs1561213283
NM_198253.3(TERT):c.1514T>G (p.Leu505Arg)
NM_198253.3(TERT):c.1517A>G (p.Gln506Arg)
NM_198253.3(TERT):c.1522C>G (p.Leu508Val)
NM_198253.3(TERT):c.1526C>T (p.Thr509Met) rs1554042799
NM_198253.3(TERT):c.1537A>T (p.Ser513Cys)
NM_198253.3(TERT):c.1538G>A (p.Ser513Asn)
NM_198253.3(TERT):c.1540G>A (p.Val514Met)
NM_198253.3(TERT):c.1541T>G (p.Val514Gly) rs1751112458
NM_198253.3(TERT):c.1543C>T (p.Arg515Trp)
NM_198253.3(TERT):c.1544G>A (p.Arg515Gln)
NM_198253.3(TERT):c.1546G>A (p.Asp516Asn) rs1156765768
NM_198253.3(TERT):c.1546G>C (p.Asp516His) rs1156765768
NM_198253.3(TERT):c.154G>A (p.Ala52Thr) rs1751290167
NM_198253.3(TERT):c.1552G>A (p.Ala518Thr)
NM_198253.3(TERT):c.1553C>T (p.Ala518Val) rs1474097655
NM_198253.3(TERT):c.1557G>C (p.Trp519Cys)
NM_198253.3(TERT):c.1558C>G (p.Leu520Val) rs1751110507
NM_198253.3(TERT):c.1559T>C (p.Leu520Pro) rs1751110348
NM_198253.3(TERT):c.155C>T (p.Ala52Val) rs1751289980
NM_198253.3(TERT):c.1561C>G (p.Arg521Gly) rs1448835821
NM_198253.3(TERT):c.1562G>A (p.Arg521His)
NM_198253.3(TERT):c.1562G>T (p.Arg521Leu) rs1060503002
NM_198253.3(TERT):c.1565G>A (p.Arg522Lys) rs1751108994
NM_198253.3(TERT):c.1568G>A (p.Ser523Asn) rs1751108602
NM_198253.3(TERT):c.1569C>G (p.Ser523Arg) rs1060503014
NM_198253.3(TERT):c.1569_1570delinsAA (p.Ser523_Pro524delinsArgThr)
NM_198253.3(TERT):c.1570C>G (p.Pro524Ala) rs898648592
NM_198253.3(TERT):c.1570C>T (p.Pro524Ser) rs898648592
NM_198253.3(TERT):c.1571C>A (p.Pro524Gln)
NM_198253.3(TERT):c.1571C>G (p.Pro524Arg)
NM_198253.3(TERT):c.1573+3G>A rs1751107935
NM_198253.3(TERT):c.1573+6G>A rs1561213199
NM_198253.3(TERT):c.1574-6T>C
NM_198253.3(TERT):c.1574-8C>A
NM_198253.3(TERT):c.1574G>A (p.Gly525Glu) rs1477152090
NM_198253.3(TERT):c.1574G>T (p.Gly525Val) rs1477152090
NM_198253.3(TERT):c.1576G>A (p.Val526Ile)
NM_198253.3(TERT):c.1580G>A (p.Gly527Asp)
NM_198253.3(TERT):c.1583G>A (p.Cys528Tyr) rs1750105041
NM_198253.3(TERT):c.1587T>G (p.Val529=)
NM_198253.3(TERT):c.1588C>T (p.Pro530Ser)
NM_198253.3(TERT):c.1589C>A (p.Pro530Gln) rs369539932
NM_198253.3(TERT):c.1590G>C (p.Pro530=) rs1396912668
NM_198253.3(TERT):c.1594G>A (p.Ala532Thr) rs776459827
NM_198253.3(TERT):c.1594G>T (p.Ala532Ser) rs776459827
NM_198253.3(TERT):c.1595C>T (p.Ala532Val)
NM_198253.3(TERT):c.1600C>T (p.His534Tyr)
NM_198253.3(TERT):c.1601A>C (p.His534Pro)
NM_198253.3(TERT):c.1601A>T (p.His534Leu)
NM_198253.3(TERT):c.1602C>A (p.His534Gln) rs1750103319
NM_198253.3(TERT):c.1603C>T (p.Arg535Cys) rs1750103128
NM_198253.3(TERT):c.1604G>C (p.Arg535Pro)
NM_198253.3(TERT):c.1606C>A (p.Leu536Met) rs1049929004
NM_198253.3(TERT):c.1607T>A (p.Leu536Gln) rs1750102460
NM_198253.3(TERT):c.160T>A (p.Cys54Ser)
NM_198253.3(TERT):c.1610G>A (p.Arg537His) rs1272053273
NM_198253.3(TERT):c.1612G>C (p.Glu538Gln)
NM_198253.3(TERT):c.1615G>C (p.Glu539Gln) rs1203927893
NM_198253.3(TERT):c.1617G>C (p.Glu539Asp)
NM_198253.3(TERT):c.1618A>T (p.Ile540Phe)
NM_198253.3(TERT):c.161G>A (p.Cys54Tyr) rs2126691594
NM_198253.3(TERT):c.1623_1624delinsTT (p.Ala542Ser) rs2126649852
NM_198253.3(TERT):c.1625C>T (p.Ala542Val) rs1579580180
NM_198253.3(TERT):c.1628A>G (p.Lys543Arg)
NM_198253.3(TERT):c.1634T>A (p.Leu545Gln)
NM_198253.3(TERT):c.1637A>C (p.His546Pro)
NM_198253.3(TERT):c.1637A>G (p.His546Arg) rs2126649799
NM_198253.3(TERT):c.1639T>G (p.Trp547Gly) rs1223467172
NM_198253.3(TERT):c.1640G>C (p.Trp547Ser)
NM_198253.3(TERT):c.1645A>T (p.Met549Leu)
NM_198253.3(TERT):c.1647G>A (p.Met549Ile) rs1554041316
NM_198253.3(TERT):c.1647G>C (p.Met549Ile)
NM_198253.3(TERT):c.1648A>C (p.Ser550Arg) rs745806589
NM_198253.3(TERT):c.1649G>A (p.Ser550Asn)
NM_198253.3(TERT):c.1650T>A (p.Ser550Arg)
NM_198253.3(TERT):c.1650T>G (p.Ser550Arg) rs778896667
NM_198253.3(TERT):c.1651G>A (p.Val551Met) rs1554041313
NM_198253.3(TERT):c.1652T>C (p.Val551Ala)
NM_198253.3(TERT):c.1663G>A (p.Glu555Lys)
NM_198253.3(TERT):c.1663G>C (p.Glu555Gln) rs1413965241
NM_198253.3(TERT):c.1666C>G (p.Leu556Val)
NM_198253.3(TERT):c.1669C>G (p.Leu557Val)
NM_198253.3(TERT):c.1672A>G (p.Arg558Gly)
NM_198253.3(TERT):c.1672A>T (p.Arg558Trp)
NM_198253.3(TERT):c.1675T>G (p.Ser559Ala) rs2126649631
NM_198253.3(TERT):c.1676C>G (p.Ser559Cys) rs1579580077
NM_198253.3(TERT):c.167T>A (p.Val56Glu)
NM_198253.3(TERT):c.1680C>A (p.Phe560Leu) rs1554041306
NM_198253.3(TERT):c.1688T>C (p.Val563Ala)
NM_198253.3(TERT):c.1691C>T (p.Thr564Met) rs1251489309
NM_198253.3(TERT):c.1697C>A (p.Thr566Asn)
NM_198253.3(TERT):c.16C>G (p.Arg6Gly) rs1751302097
NM_198253.3(TERT):c.1715G>A (p.Arg572Lys)
NM_198253.3(TERT):c.1716G>T (p.Arg572Ser) rs2126649488
NM_198253.3(TERT):c.1729C>T (p.Arg577Trp) rs1207489144
NM_198253.3(TERT):c.172G>C (p.Val58Leu) rs1751288465
NM_198253.3(TERT):c.1734G>C (p.Lys578Asn)
NM_198253.3(TERT):c.1736G>A (p.Ser579Asn)
NM_198253.3(TERT):c.1743G>T (p.Trp581Cys) rs1750086002
NM_198253.3(TERT):c.1744A>T (p.Ser582Cys)
NM_198253.3(TERT):c.1748A>C (p.Lys583Thr)
NM_198253.3(TERT):c.1759A>G (p.Ile587Val) rs752068571
NM_198253.3(TERT):c.1761T>G (p.Ile587Met) rs1750084189
NM_198253.3(TERT):c.1769+4C>A
NM_198253.3(TERT):c.1769+5T>C rs1750082976
NM_198253.3(TERT):c.1769+6G>A
NM_198253.3(TERT):c.1770-3C>T
NM_198253.3(TERT):c.1770-5T>C
NM_198253.3(TERT):c.1775A>T (p.His592Leu) rs2126644777
NM_198253.3(TERT):c.1781A>G (p.Lys594Arg)
NM_198253.3(TERT):c.1786G>T (p.Val596Leu) rs1554041101
NM_198253.3(TERT):c.1787T>G (p.Val596Gly) rs1463357127
NM_198253.3(TERT):c.1795C>T (p.Arg599Trp)
NM_198253.3(TERT):c.1796G>C (p.Arg599Pro)
NM_198253.3(TERT):c.1804T>C (p.Ser602Pro) rs2126644665
NM_198253.3(TERT):c.180G>C (p.Trp60Cys) rs1554043139
NM_198253.3(TERT):c.1810G>A (p.Ala604Thr) rs2126644638
NM_198253.3(TERT):c.1814A>G (p.Glu605Gly)
NM_198253.3(TERT):c.1821G>C (p.Arg607Ser)
NM_198253.3(TERT):c.1822C>A (p.Gln608Lys)
NM_198253.3(TERT):c.1823A>T (p.Gln608Leu)
NM_198253.3(TERT):c.1828C>G (p.Arg610Gly) rs747940807
NM_198253.3(TERT):c.1828C>T (p.Arg610Trp) rs747940807
NM_198253.3(TERT):c.1829G>T (p.Arg610Leu) rs776763536
NM_198253.3(TERT):c.182A>G (p.Asp61Gly)
NM_198253.3(TERT):c.1831G>A (p.Glu611Lys) rs1554041095
NM_198253.3(TERT):c.1832A>G (p.Glu611Gly)
NM_198253.3(TERT):c.1834G>A (p.Ala612Thr) rs1749932051
NM_198253.3(TERT):c.1835C>T (p.Ala612Val)
NM_198253.3(TERT):c.1840C>G (p.Pro614Ala)
NM_198253.3(TERT):c.1840C>T (p.Pro614Ser) rs2126644525
NM_198253.3(TERT):c.1841C>A (p.Pro614His) rs1749931485
NM_198253.3(TERT):c.1844C>T (p.Ala615Val) rs1554041088
NM_198253.3(TERT):c.1846C>A (p.Leu616Met)
NM_198253.3(TERT):c.184G>T (p.Ala62Ser) rs2126691502
NM_198253.3(TERT):c.1852A>G (p.Thr618Ala) rs995777798
NM_198253.3(TERT):c.1853C>G (p.Thr618Arg)
NM_198253.3(TERT):c.1855T>A (p.Ser619Thr) rs1749929033
NM_198253.3(TERT):c.185C>A (p.Ala62Glu)
NM_198253.3(TERT):c.185C>G (p.Ala62Gly)
NM_198253.3(TERT):c.1861C>A (p.Leu621Ile)
NM_198253.3(TERT):c.1861C>G (p.Leu621Val)
NM_198253.3(TERT):c.1864C>T (p.Arg622Cys) rs1579577192
NM_198253.3(TERT):c.1865G>A (p.Arg622His)
NM_198253.3(TERT):c.1870A>G (p.Ile624Val) rs2126644408
NM_198253.3(TERT):c.1873C>A (p.Pro625Thr) rs1749928062
NM_198253.3(TERT):c.1878G>C (p.Lys626Asn)
NM_198253.3(TERT):c.1879C>G (p.Pro627Ala) rs2126644373
NM_198253.3(TERT):c.1882G>A (p.Asp628Asn) rs1354825725
NM_198253.3(TERT):c.1885G>A (p.Gly629Arg) rs2126644343
NM_198253.3(TERT):c.1895C>T (p.Pro632Leu) rs1749925286
NM_198253.3(TERT):c.1898T>G (p.Ile633Ser)
NM_198253.3(TERT):c.1900G>T (p.Val634Leu) rs2126644267
NM_198253.3(TERT):c.1903A>C (p.Asn635His)
NM_198253.3(TERT):c.1906A>G (p.Met636Val) rs1265160730
NM_198253.3(TERT):c.1909G>A (p.Asp637Asn) rs1561203868
NM_198253.3(TERT):c.1910A>C (p.Asp637Ala)
NM_198253.3(TERT):c.1912T>C (p.Tyr638His)
NM_198253.3(TERT):c.1913A>G (p.Tyr638Cys) rs1554041073
NM_198253.3(TERT):c.1918G>T (p.Val640Leu) rs765195721
NM_198253.3(TERT):c.1919T>C (p.Val640Ala)
NM_198253.3(TERT):c.191C>T (p.Pro64Leu) rs1751286367
NM_198253.3(TERT):c.1921G>C (p.Gly641Arg)
NM_198253.3(TERT):c.1927A>G (p.Arg643Gly) rs1749921453
NM_198253.3(TERT):c.1930A>G (p.Thr644Ala)
NM_198253.3(TERT):c.1931C>A (p.Thr644Lys) rs201927653
NM_198253.3(TERT):c.193C>A (p.Pro65Thr) rs544215765
NM_198253.3(TERT):c.1942G>A (p.Glu648Lys)
NM_198253.3(TERT):c.1942G>C (p.Glu648Gln)
NM_198253.3(TERT):c.1943A>T (p.Glu648Val) rs1749919380
NM_198253.3(TERT):c.1946A>G (p.Lys649Arg)
NM_198253.3(TERT):c.1947G>C (p.Lys649Asn)
NM_198253.3(TERT):c.194C>T (p.Pro65Leu) rs1561215067
NM_198253.3(TERT):c.1950+5C>A rs1749918549
NM_198253.3(TERT):c.1951-3C>T
NM_198253.3(TERT):c.1951G>A (p.Ala651Thr)
NM_198253.3(TERT):c.1951G>C (p.Ala651Pro) rs1579576105
NM_198253.3(TERT):c.1955A>G (p.Glu652Gly)
NM_198253.3(TERT):c.1957C>A (p.Arg653Ser)
NM_198253.3(TERT):c.1960C>G (p.Leu654Val)
NM_198253.3(TERT):c.1964C>A (p.Thr655Asn) rs2126642347
NM_198253.3(TERT):c.1964C>G (p.Thr655Ser)
NM_198253.3(TERT):c.1967C>T (p.Ser656Leu)
NM_198253.3(TERT):c.196C>T (p.Pro66Ser) rs2126691433
NM_198253.3(TERT):c.1971G>C (p.Arg657Ser)
NM_198253.3(TERT):c.1972G>T (p.Val658Leu)
NM_198253.3(TERT):c.1978G>T (p.Ala660Ser)
NM_198253.3(TERT):c.1982T>A (p.Leu661Gln)
NM_198253.3(TERT):c.1987A>C (p.Ser663Arg)
NM_198253.3(TERT):c.1987A>G (p.Ser663Gly) rs1749860434
NM_198253.3(TERT):c.1988G>A (p.Ser663Asn)
NM_198253.3(TERT):c.1990G>A (p.Val664Met) rs797046042
NM_198253.3(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.3(TERT):c.199G>C (p.Ala67Pro) rs2126691405
NM_198253.3(TERT):c.2000A>G (p.Tyr667Cys)
NM_198253.3(TERT):c.2002G>C (p.Glu668Gln)
NM_198253.3(TERT):c.2003A>C (p.Glu668Ala) rs1749859084
NM_198253.3(TERT):c.2006G>A (p.Arg669Gln) rs1749858434
NM_198253.3(TERT):c.2006G>C (p.Arg669Pro) rs1749858434
NM_198253.3(TERT):c.2006G>T (p.Arg669Leu)
NM_198253.3(TERT):c.2009C>G (p.Ala670Gly)
NM_198253.3(TERT):c.200C>T (p.Ala67Val) rs1554043124
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.3(TERT):c.2014C>A (p.Arg672Ser)
NM_198253.3(TERT):c.2015G>T (p.Arg672Leu)
NM_198253.3(TERT):c.2017C>T (p.Pro673Ser)
NM_198253.3(TERT):c.2020G>T (p.Gly674Cys) rs773813809
NM_198253.3(TERT):c.2021G>T (p.Gly674Val)
NM_198253.3(TERT):c.2023C>G (p.Leu675Val)
NM_198253.3(TERT):c.2024T>G (p.Leu675Arg)
NM_198253.3(TERT):c.2026C>G (p.Leu676Val)
NM_198253.3(TERT):c.2027T>G (p.Leu676Arg)
NM_198253.3(TERT):c.202G>A (p.Ala68Thr)
NM_198253.3(TERT):c.202G>T (p.Ala68Ser) rs1038954321
NM_198253.3(TERT):c.2032G>A (p.Ala678Thr) rs1278095401
NM_198253.3(TERT):c.2032G>C (p.Ala678Pro)
NM_198253.3(TERT):c.2036C>G (p.Ser679Cys)
NM_198253.3(TERT):c.203C>T (p.Ala68Val) rs1421869855
NM_198253.3(TERT):c.2044G>C (p.Gly682Arg)
NM_198253.3(TERT):c.2050G>A (p.Asp684Asn)
NM_198253.3(TERT):c.2051A>T (p.Asp684Val) rs776981958
NM_198253.3(TERT):c.2052C>A (p.Asp684Glu)
NM_198253.3(TERT):c.2057T>C (p.Ile686Thr)
NM_198253.3(TERT):c.2059C>T (p.His687Tyr)
NM_198253.3(TERT):c.2063G>A (p.Arg688Lys)
NM_198253.3(TERT):c.2066C>A (p.Ala689Asp)
NM_198253.3(TERT):c.206C>T (p.Pro69Leu)
NM_198253.3(TERT):c.2070G>C (p.Trp690Cys)
NM_198253.3(TERT):c.2071C>A (p.Arg691Ser) rs866767063
NM_198253.3(TERT):c.2071C>T (p.Arg691Cys) rs866767063
NM_198253.3(TERT):c.2072G>A (p.Arg691His) rs202123213
NM_198253.3(TERT):c.2074A>G (p.Thr692Ala)
NM_198253.3(TERT):c.2075C>A (p.Thr692Asn) rs1060503005
NM_198253.3(TERT):c.2075C>T (p.Thr692Ile) rs1060503005
NM_198253.3(TERT):c.2081T>A (p.Val694Glu) rs1026167666
NM_198253.3(TERT):c.2081T>C (p.Val694Ala) rs1026167666
NM_198253.3(TERT):c.2084T>A (p.Leu695Gln) rs1749846376
NM_198253.3(TERT):c.2086C>A (p.Arg696Ser)
NM_198253.3(TERT):c.2086C>T (p.Arg696Cys)
NM_198253.3(TERT):c.2087G>A (p.Arg696His) rs756152343
NM_198253.3(TERT):c.2087G>C (p.Arg696Pro)
NM_198253.3(TERT):c.2087_2088delinsAG (p.Arg696Gln)
NM_198253.3(TERT):c.2090T>C (p.Val697Ala) rs1749845469
NM_198253.3(TERT):c.2092C>T (p.Arg698Trp)
NM_198253.3(TERT):c.2093G>A (p.Arg698Gln)
NM_198253.3(TERT):c.2095G>A (p.Ala699Thr) rs2126641710
NM_198253.3(TERT):c.2095G>T (p.Ala699Ser)
NM_198253.3(TERT):c.20G>A (p.Cys7Tyr) rs1751301663
NM_198253.3(TERT):c.2102A>G (p.Asp701Gly)
NM_198253.3(TERT):c.2113G>A (p.Glu705Lys)
NM_198253.3(TERT):c.2115G>T (p.Glu705Asp)
NM_198253.3(TERT):c.2120A>G (p.Tyr707Cys)
NM_198253.3(TERT):c.2129A>G (p.Lys710Arg)
NM_198253.3(TERT):c.2130+3G>A rs2126641610
NM_198253.3(TERT):c.2130+4G>T rs762332544
NM_198253.3(TERT):c.2130+5G>A rs777102890
NM_198253.3(TERT):c.2130G>A (p.Lys710=)
NM_198253.3(TERT):c.2131G>T (p.Val711Leu)
NM_198253.3(TERT):c.2137G>A (p.Val713Met)
NM_198253.3(TERT):c.2141C>A (p.Thr714Lys)
NM_198253.3(TERT):c.2144G>C (p.Gly715Ala)
NM_198253.3(TERT):c.2149T>A (p.Tyr717Asn) rs2126640445
NM_198253.3(TERT):c.214C>T (p.Arg72Cys) rs943289163
NM_198253.3(TERT):c.2152G>A (p.Asp718Asn) rs1579574994
NM_198253.3(TERT):c.2154C>A (p.Asp718Glu)
NM_198253.3(TERT):c.2158A>G (p.Ile720Val)
NM_198253.3(TERT):c.2160C>G (p.Ile720Met)
NM_198253.3(TERT):c.2165A>G (p.Gln722Arg) rs1554040902
NM_198253.3(TERT):c.2171G>C (p.Arg724Thr)
NM_198253.3(TERT):c.2172G>C (p.Arg724Ser) rs1749793761
NM_198253.3(TERT):c.2177C>A (p.Thr726Lys)
NM_198253.3(TERT):c.2181G>T (p.Glu727Asp)
NM_198253.3(TERT):c.2182G>A (p.Val728Ile) rs2126640328
NM_198253.3(TERT):c.2187C>G (p.Ile729Met) rs200819224
NM_198253.3(TERT):c.219+3G>A rs2126691323
NM_198253.3(TERT):c.219+6C>A rs1751283546
NM_198253.3(TERT):c.2194A>G (p.Ile732Val)
NM_198253.3(TERT):c.2197A>G (p.Ile733Val) rs1749791069
NM_198253.3(TERT):c.2197A>T (p.Ile733Phe) rs1749791069
NM_198253.3(TERT):c.220-3C>T rs774658501
NM_198253.3(TERT):c.2200A>G (p.Lys734Glu) rs767819088
NM_198253.3(TERT):c.2207A>G (p.Gln736Arg) rs1749790259
NM_198253.3(TERT):c.2209A>G (p.Asn737Asp) rs933160193
NM_198253.3(TERT):c.2210A>G (p.Asn737Ser) rs1749789809
NM_198253.3(TERT):c.2210A>T (p.Asn737Ile)
NM_198253.3(TERT):c.2211C>A (p.Asn737Lys) rs1749789535
NM_198253.3(TERT):c.2216A>G (p.Tyr739Cys)
NM_198253.3(TERT):c.2219G>A (p.Cys740Tyr) rs1749788238
NM_198253.3(TERT):c.221T>A (p.Val74Glu) rs1751273218
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.2221G>C (p.Val741Leu)
NM_198253.3(TERT):c.2224C>T (p.Arg742Cys)
NM_198253.3(TERT):c.2231A>G (p.Tyr744Cys)
NM_198253.3(TERT):c.2236G>A (p.Val746Met) rs1321220917
NM_198253.3(TERT):c.2239G>A (p.Val747Ile) rs1554040888
NM_198253.3(TERT):c.2240T>C (p.Val747Ala)
NM_198253.3(TERT):c.2243_2266dup (p.Val755_Arg756insGlnLysAlaAlaHisGlyHisVal)
NM_198253.3(TERT):c.2248G>A (p.Ala750Thr) rs1579574831
NM_198253.3(TERT):c.2251G>T (p.Ala751Ser)
NM_198253.3(TERT):c.2252C>T (p.Ala751Val)
NM_198253.3(TERT):c.2254C>G (p.His752Asp)
NM_198253.3(TERT):c.2257G>A (p.Gly753Arg)
NM_198253.3(TERT):c.2262C>G (p.His754Gln)
NM_198253.3(TERT):c.2267G>T (p.Arg756Leu) rs374206276
NM_198253.3(TERT):c.2270A>G (p.Lys757Arg) rs1187645843
NM_198253.3(TERT):c.2272G>T (p.Ala758Ser) rs756195573
NM_198253.3(TERT):c.2273C>T (p.Ala758Val)
NM_198253.3(TERT):c.227G>C (p.Cys76Ser) rs1192287561
NM_198253.3(TERT):c.2282G>A (p.Ser761Asn) rs1749780917
NM_198253.3(TERT):c.2284C>T (p.His762Tyr)
NM_198253.3(TERT):c.2286+5G>A rs1060502997
NM_198253.3(TERT):c.2286+5G>C rs1060502997
NM_198253.3(TERT):c.2286+6G>T rs1749779984
NM_198253.3(TERT):c.2287-3C>T rs775070951
NM_198253.3(TERT):c.2287G>T (p.Val763Phe)
NM_198253.3(TERT):c.2291C>G (p.Ser764Cys) rs1749100396
NM_198253.3(TERT):c.2291C>T (p.Ser764Phe) rs1749100396
NM_198253.3(TERT):c.2293A>G (p.Thr765Ala)
NM_198253.3(TERT):c.2294C>T (p.Thr765Ile) rs1749100008
NM_198253.3(TERT):c.2299A>G (p.Thr767Ala)
NM_198253.3(TERT):c.229C>G (p.Leu77Val) rs1751271727
NM_198253.3(TERT):c.22C>G (p.Arg8Gly) rs1579599353
NM_198253.3(TERT):c.2300C>G (p.Thr767Arg)
NM_198253.3(TERT):c.2303A>G (p.Asp768Gly)
NM_198253.3(TERT):c.2306T>A (p.Leu769His)
NM_198253.3(TERT):c.230T>C (p.Leu77Pro) rs1751271544
NM_198253.3(TERT):c.2311C>G (p.Pro771Ala)
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.3(TERT):c.2320C>G (p.Arg774Gly)
NM_198253.3(TERT):c.2329G>A (p.Val777Met) rs1554040129
NM_198253.3(TERT):c.2329G>T (p.Val777Leu)
NM_198253.3(TERT):c.2332G>A (p.Ala778Thr) rs781360741
NM_198253.3(TERT):c.2332G>T (p.Ala778Ser)
NM_198253.3(TERT):c.2336A>G (p.His779Arg)
NM_198253.3(TERT):c.233A>G (p.Lys78Arg)
NM_198253.3(TERT):c.2345A>C (p.Glu782Ala) rs1060503012
NM_198253.3(TERT):c.2346G>C (p.Glu782Asp)
NM_198253.3(TERT):c.2346G>T (p.Glu782Asp)
NM_198253.3(TERT):c.2348C>T (p.Thr783Ile) rs2126617732
NM_198253.3(TERT):c.2350A>G (p.Ser784Gly)
NM_198253.3(TERT):c.2353C>T (p.Pro785Ser) rs755822641
NM_198253.3(TERT):c.2360G>T (p.Arg787Met) rs1202226678
NM_198253.3(TERT):c.2362G>A (p.Asp788Asn)
NM_198253.3(TERT):c.2363A>G (p.Asp788Gly) rs1749092135
NM_198253.3(TERT):c.2369T>A (p.Val790Asp)
NM_198253.3(TERT):c.2374A>G (p.Ile792Val) rs1289861532
NM_198253.3(TERT):c.2377G>A (p.Glu793Lys) rs1043358053
NM_198253.3(TERT):c.2379G>T (p.Glu793Asp)
NM_198253.3(TERT):c.2381A>G (p.Gln794Arg) rs1749089732
NM_198253.3(TERT):c.2382+28C>T
NM_198253.3(TERT):c.2382+3C>A rs1579564797
NM_198253.3(TERT):c.2382+3C>T rs1579564797
NM_198253.3(TERT):c.2382+4T>A
NM_198253.3(TERT):c.2382+4T>C rs1579564791
NM_198253.3(TERT):c.2382+6G>A rs1400066265
NM_198253.3(TERT):c.2382+6G>C rs1400066265
NM_198253.3(TERT):c.2382+6G>T rs1400066265
NM_198253.3(TERT):c.2382G>T (p.Gln794His)
NM_198253.3(TERT):c.2383-16_2383-15inv
NM_198253.3(TERT):c.2383-3C>T rs2126614684
NM_198253.3(TERT):c.2384G>A (p.Ser795Asn)
NM_198253.3(TERT):c.2386T>C (p.Ser796Pro)
NM_198253.3(TERT):c.2396A>G (p.Asn799Ser) rs2126614637
NM_198253.3(TERT):c.2398G>A (p.Glu800Lys)
NM_198253.3(TERT):c.23G>A (p.Arg8Gln)
NM_198253.3(TERT):c.23G>T (p.Arg8Leu)
NM_198253.3(TERT):c.2401G>A (p.Ala801Thr) rs1749006856
NM_198253.3(TERT):c.2401G>C (p.Ala801Pro) rs1749006856
NM_198253.3(TERT):c.2401G>T (p.Ala801Ser)
NM_198253.3(TERT):c.2402C>A (p.Ala801Asp)
NM_198253.3(TERT):c.2402C>G (p.Ala801Gly) rs1749006590
NM_198253.3(TERT):c.2402C>T (p.Ala801Val)
NM_198253.3(TERT):c.2405G>T (p.Ser802Ile) rs1060503004
NM_198253.3(TERT):c.2408G>A (p.Ser803Asn)
NM_198253.3(TERT):c.2410G>A (p.Gly804Ser) rs1749005440
NM_198253.3(TERT):c.2411G>A (p.Gly804Asp) rs1442845192
NM_198253.3(TERT):c.2413C>A (p.Leu805Ile)
NM_198253.3(TERT):c.2413C>T (p.Leu805Phe) rs2126614509
NM_198253.3(TERT):c.2414T>C (p.Leu805Pro)
NM_198253.3(TERT):c.2417T>C (p.Phe806Ser) rs1749004999
NM_198253.3(TERT):c.2421C>G (p.Asp807Glu) rs771997164
NM_198253.3(TERT):c.2428C>G (p.Leu810Val)
NM_198253.3(TERT):c.2431_2433delinsTGT (p.Arg811Cys)
NM_198253.3(TERT):c.2432G>T (p.Arg811Leu)
NM_198253.3(TERT):c.2435T>C (p.Phe812Ser)
NM_198253.3(TERT):c.2438T>C (p.Met813Thr)
NM_198253.3(TERT):c.2443C>T (p.His815Tyr)
NM_198253.3(TERT):c.2444A>C (p.His815Pro) rs771392980
NM_198253.3(TERT):c.2446C>A (p.His816Asn) rs1579563373
NM_198253.3(TERT):c.2446C>T (p.His816Tyr) rs1579563373
NM_198253.3(TERT):c.2450C>G (p.Ala817Gly)
NM_198253.3(TERT):c.2455C>A (p.Arg819Ser) rs746621306
NM_198253.3(TERT):c.2459T>G (p.Ile820Ser)
NM_198253.3(TERT):c.2460C>G (p.Ile820Met)
NM_198253.3(TERT):c.2466C>T (p.Gly822=)
NM_198253.3(TERT):c.2467A>G (p.Lys823Glu) rs2126614257
NM_198253.3(TERT):c.2468+103G>A
NM_198253.3(TERT):c.2468+17G>A
NM_198253.3(TERT):c.2468+17G>C
NM_198253.3(TERT):c.2468+20G>A
NM_198253.3(TERT):c.2470T>C (p.Ser824Pro)
NM_198253.3(TERT):c.2471C>G (p.Ser824Cys)
NM_198253.3(TERT):c.2473T>C (p.Tyr825His)
NM_198253.3(TERT):c.2476G>T (p.Val826Phe) rs1060503009
NM_198253.3(TERT):c.2482T>A (p.Cys828Ser)
NM_198253.3(TERT):c.2486A>G (p.Gln829Arg)
NM_198253.3(TERT):c.248G>C (p.Arg83Pro)
NM_198253.3(TERT):c.248G>T (p.Arg83Leu)
NM_198253.3(TERT):c.2495C>T (p.Pro832Leu) rs1748794843
NM_198253.3(TERT):c.2509C>T (p.Leu837Phe)
NM_198253.3(TERT):c.2523C>G (p.Leu841=) rs1554039733
NM_198253.3(TERT):c.2525G>A (p.Cys842Tyr) rs1748789851
NM_198253.3(TERT):c.2527A>G (p.Ser843Gly) rs1554039732
NM_198253.3(TERT):c.2542G>A (p.Asp848Asn) rs1003575407
NM_198253.3(TERT):c.2550G>T (p.Glu850Asp)
NM_198253.3(TERT):c.2551A>G (p.Asn851Asp)
NM_198253.3(TERT):c.2554A>G (p.Lys852Glu)
NM_198253.3(TERT):c.2555A>G (p.Lys852Arg)
NM_198253.3(TERT):c.2562T>G (p.Phe854Leu) rs2126607250
NM_198253.3(TERT):c.2564C>A (p.Ala855Glu)
NM_198253.3(TERT):c.2568G>T (p.Gly856=)
NM_198253.3(TERT):c.2575C>T (p.Arg859Trp) rs876658018
NM_198253.3(TERT):c.2578G>A (p.Asp860Asn) rs1748780421
NM_198253.3(TERT):c.2579A>G (p.Asp860Gly) rs2126607112
NM_198253.3(TERT):c.2581G>A (p.Gly861Arg) rs1554039721
NM_198253.3(TERT):c.2582+3G>A rs1748779829
NM_198253.3(TERT):c.2582+6G>A rs2126607087
NM_198253.3(TERT):c.2583-3T>C rs111436818
NM_198253.3(TERT):c.2583G>A (p.Gly861=)
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys) rs372868296
NM_198253.3(TERT):c.2605G>T (p.Asp869Tyr) rs1748617474
NM_198253.3(TERT):c.2608T>A (p.Phe870Ile) rs1748617178
NM_198253.3(TERT):c.2612T>G (p.Leu871Trp) rs1748616956
NM_198253.3(TERT):c.2616G>C (p.Leu872Phe) rs1561194081
NM_198253.3(TERT):c.261G>T (p.Arg87Ser) rs1033845124
NM_198253.3(TERT):c.2626C>A (p.His876Asn) rs1483412488
NM_198253.3(TERT):c.2626C>T (p.His876Tyr)
NM_198253.3(TERT):c.2637C>G (p.His879Gln) rs1307380469
NM_198253.3(TERT):c.2642A>T (p.Lys881Ile) rs751767277
NM_198253.3(TERT):c.2645C>G (p.Thr882Ser)
NM_198253.3(TERT):c.2653A>G (p.Arg885Gly)
NM_198253.3(TERT):c.2654+5G>A
NM_198253.3(TERT):c.2654+6G>A
NM_198253.3(TERT):c.2665C>G (p.Arg889Gly)
NM_198253.3(TERT):c.2669G>A (p.Gly890Asp)
NM_198253.3(TERT):c.2671G>A (p.Val891Ile) rs2126595366
NM_198253.3(TERT):c.2674C>T (p.Pro892Ser)
NM_198253.3(TERT):c.2677G>C (p.Glu893Gln) rs2126595355
NM_198253.3(TERT):c.2687G>A (p.Cys896Tyr)
NM_198253.3(TERT):c.2687G>T (p.Cys896Phe)
NM_198253.3(TERT):c.2689G>T (p.Val897Leu) rs559028617
NM_198253.3(TERT):c.2692G>C (p.Val898Leu)
NM_198253.3(TERT):c.2696A>C (p.Asn899Thr) rs1748462245
NM_198253.3(TERT):c.26C>T (p.Ala9Val)
NM_198253.3(TERT):c.2708C>T (p.Thr903Ile) rs727505125
NM_198253.3(TERT):c.270G>C (p.Glu90Asp)
NM_198253.3(TERT):c.271C>T (p.Arg91Cys) rs1751268783
NM_198253.3(TERT):c.2725G>A (p.Val909Ile) rs537649320
NM_198253.3(TERT):c.2729A>G (p.Glu910Gly)
NM_198253.3(TERT):c.2733C>A (p.Asp911Glu)
NM_198253.3(TERT):c.2733C>G (p.Asp911Glu)
NM_198253.3(TERT):c.2734G>A (p.Glu912Lys) rs746883330
NM_198253.3(TERT):c.2738C>G (p.Ala913Gly) rs2126595114
NM_198253.3(TERT):c.2738C>T (p.Ala913Val)
NM_198253.3(TERT):c.2743G>A (p.Gly915Ser) rs1579555878
NM_198253.3(TERT):c.2746G>A (p.Gly916Ser) rs1189683846
NM_198253.3(TERT):c.2747G>A (p.Gly916Asp) rs2126595048
NM_198253.3(TERT):c.274G>A (p.Gly92Ser)
NM_198253.3(TERT):c.2750C>A (p.Thr917Lys) rs779102560
NM_198253.3(TERT):c.2752G>A (p.Ala918Thr) rs1748456485
NM_198253.3(TERT):c.2752G>T (p.Ala918Ser)
NM_198253.3(TERT):c.2753C>T (p.Ala918Val)
NM_198253.3(TERT):c.2757T>G (p.Phe919Leu)
NM_198253.3(TERT):c.2758G>A (p.Val920Ile) rs1748456126
NM_198253.3(TERT):c.2762A>G (p.Gln921Arg)
NM_198253.3(TERT):c.2766G>T (p.Met922Ile)
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.2773C>T (p.His925Tyr) rs1748455013
NM_198253.3(TERT):c.2775C>A (p.His925Gln) rs34528119
NM_198253.3(TERT):c.2777G>C (p.Gly926Ala)
NM_198253.3(TERT):c.2780T>C (p.Leu927Pro)
NM_198253.3(TERT):c.2783T>G (p.Phe928Cys) rs1748453531
NM_198253.3(TERT):c.2789G>T (p.Trp930Leu) rs1748452946
NM_198253.3(TERT):c.278C>A (p.Ala93Glu)
NM_198253.3(TERT):c.278C>G (p.Ala93Gly)
NM_198253.3(TERT):c.278C>T (p.Ala93Val) rs1751268584
NM_198253.3(TERT):c.2792G>A (p.Cys931Tyr)
NM_198253.3(TERT):c.2794G>A (p.Gly932Ser)
NM_198253.3(TERT):c.2806G>C (p.Asp936His)
NM_198253.3(TERT):c.280A>C (p.Lys94Gln) rs1751268378
NM_198253.3(TERT):c.2810C>G (p.Thr937Ser)
NM_198253.3(TERT):c.2813G>A (p.Arg938Gln) rs199741493
NM_198253.3(TERT):c.2815A>C (p.Thr939Pro)
NM_198253.3(TERT):c.282G>C (p.Lys94Asn) rs1751268163
NM_198253.3(TERT):c.282G>T (p.Lys94Asn) rs1751268163
NM_198253.3(TERT):c.2832C>A (p.Ser944Arg) rs1192852544
NM_198253.3(TERT):c.2833G>A (p.Asp945Asn)
NM_198253.3(TERT):c.2834A>T (p.Asp945Val)
NM_198253.3(TERT):c.2836T>C (p.Tyr946His) rs1748447400
NM_198253.3(TERT):c.2843+6C>A rs372086160
NM_198253.3(TERT):c.2844-12C>T rs199765802
NM_198253.3(TERT):c.2844-3C>T
NM_198253.3(TERT):c.285C>A (p.Asn95Lys) rs1751267963
NM_198253.3(TERT):c.2860A>G (p.Ile954Val) rs1748158658
NM_198253.3(TERT):c.2866G>A (p.Ala956Thr)
NM_198253.3(TERT):c.2870G>C (p.Ser957Thr)
NM_198253.3(TERT):c.2882A>C (p.Asn961Thr)
NM_198253.3(TERT):c.2882A>G (p.Asn961Ser) rs1561190919
NM_198253.3(TERT):c.2884C>A (p.Arg962Ser) rs144697790
NM_198253.3(TERT):c.2885G>C (p.Arg962Pro)
NM_198253.3(TERT):c.2885G>T (p.Arg962Leu)
NM_198253.3(TERT):c.2887G>A (p.Gly963Ser) rs201272197
NM_198253.3(TERT):c.2897C>T (p.Ala966Val) rs766236334
NM_198253.3(TERT):c.2899G>A (p.Gly967Arg)
NM_198253.3(TERT):c.2904G>C (p.Arg968Ser)
NM_198253.3(TERT):c.2907C>G (p.Asn969Lys)
NM_198253.3(TERT):c.2908A>G (p.Met970Val) rs762647113
NM_198253.3(TERT):c.2908A>T (p.Met970Leu) rs762647113
NM_198253.3(TERT):c.290T>G (p.Leu97Arg)
NM_198253.3(TERT):c.2911C>G (p.Arg971Gly)
NM_198253.3(TERT):c.2911C>T (p.Arg971Cys) rs2126584533
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198253.3(TERT):c.2914C>G (p.Arg972Gly)
NM_198253.3(TERT):c.2918A>C (p.Lys973Thr)
NM_198253.3(TERT):c.2918A>G (p.Lys973Arg)
NM_198253.3(TERT):c.2923T>C (p.Phe975Leu) rs2126584472
NM_198253.3(TERT):c.2927G>A (p.Gly976Glu) rs1748151682
NM_198253.3(TERT):c.2929G>A (p.Val977Ile) rs1482563385
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) rs765566930
NM_198253.3(TERT):c.293C>A (p.Ala98Asp)
NM_198253.3(TERT):c.2944T>C (p.Cys982Arg)
NM_198253.3(TERT):c.2945G>A (p.Cys982Tyr) rs1554038806
NM_198253.3(TERT):c.2945G>C (p.Cys982Ser)
NM_198253.3(TERT):c.2945G>T (p.Cys982Phe) rs1554038806
NM_198253.3(TERT):c.2947C>T (p.His983Tyr) rs1554038803
NM_198253.3(TERT):c.2951G>A (p.Ser984Asn) rs1748149112
NM_198253.3(TERT):c.2952C>G (p.Ser984Arg) rs1159346733
NM_198253.3(TERT):c.2958T>G (p.Phe986Leu)
NM_198253.3(TERT):c.2959C>G (p.Leu987Val) rs1748147415
NM_198253.3(TERT):c.2970+3G>A
NM_198253.3(TERT):c.2970+6C>T rs1396703353
NM_198253.3(TERT):c.2971-14C>T rs2126573743
NM_198253.3(TERT):c.2971G>A (p.Val991Met)
NM_198253.3(TERT):c.2974A>C (p.Asn992His)
NM_198253.3(TERT):c.2977A>G (p.Ser993Gly)
NM_198253.3(TERT):c.2987C>A (p.Thr996Lys) rs1223394183
NM_198253.3(TERT):c.2995A>G (p.Thr999Ala) rs1747930885
NM_198253.3(TERT):c.2996C>A (p.Thr999Asn)
NM_198253.3(TERT):c.3001A>G (p.Ile1001Val) rs1747930001
NM_198253.3(TERT):c.3001A>T (p.Ile1001Phe)
NM_198253.3(TERT):c.3008A>G (p.Lys1003Arg)
NM_198253.3(TERT):c.3013C>T (p.Leu1005Phe)
NM_198253.3(TERT):c.301T>G (p.Phe101Val) rs1554043101
NM_198253.3(TERT):c.3025G>T (p.Ala1009Ser) rs1747928809
NM_198253.3(TERT):c.3031A>C (p.Arg1011=) rs2126573316
NM_198253.3(TERT):c.3037C>T (p.His1013Tyr)
NM_198253.3(TERT):c.3040G>A (p.Ala1014Thr)
NM_198253.3(TERT):c.3040G>T (p.Ala1014Ser) rs1747650909
NM_198253.3(TERT):c.304G>T (p.Ala102Ser)
NM_198253.3(TERT):c.3050T>C (p.Leu1017Pro)
NM_198253.3(TERT):c.305C>T (p.Ala102Val) rs2126690624
NM_198253.3(TERT):c.3062T>G (p.Phe1021Cys) rs2126562843
NM_198253.3(TERT):c.3065A>G (p.His1022Arg)
NM_198253.3(TERT):c.3065A>T (p.His1022Leu) rs878855304
NM_198253.3(TERT):c.3072A>T (p.Gln1024His)
NM_198253.3(TERT):c.3074T>C (p.Val1025Ala) rs1338054182
NM_198253.3(TERT):c.3076T>G (p.Trp1026Gly) rs1747645893
NM_198253.3(TERT):c.307C>G (p.Leu103Val)
NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly) rs1751266537
NM_198253.3(TERT):c.3085C>G (p.Pro1029Ala)
NM_198253.3(TERT):c.3085C>T (p.Pro1029Ser) rs2126562746
NM_198253.3(TERT):c.3089C>T (p.Thr1030Ile)
NM_198253.3(TERT):c.308T>C (p.Leu103Pro)
NM_198253.3(TERT):c.308T>G (p.Leu103Arg)
NM_198253.3(TERT):c.3094T>G (p.Phe1032Val)
NM_198253.3(TERT):c.3100C>T (p.Arg1034Cys) rs777672180
NM_198253.3(TERT):c.3106A>G (p.Ile1036Val)
NM_198253.3(TERT):c.3107T>C (p.Ile1036Thr)
NM_198253.3(TERT):c.3113A>C (p.Asp1038Ala) rs1747641424
NM_198253.3(TERT):c.3115A>C (p.Thr1039Pro) rs1747640936
NM_198253.3(TERT):c.3115A>G (p.Thr1039Ala) rs1747640936
NM_198253.3(TERT):c.3118G>T (p.Ala1040Ser) rs770144114
NM_198253.3(TERT):c.311T>A (p.Leu104Gln)
NM_198253.3(TERT):c.3122C>G (p.Ser1041Cys)
NM_198253.3(TERT):c.3122C>T (p.Ser1041Phe) rs2126562513
NM_198253.3(TERT):c.3124C>T (p.Leu1042Phe) rs1333205745
NM_198253.3(TERT):c.3134C>G (p.Ser1045Cys) rs1747638951
NM_198253.3(TERT):c.3134C>T (p.Ser1045Phe)
NM_198253.3(TERT):c.3136A>G (p.Ile1046Val)
NM_198253.3(TERT):c.3140T>C (p.Leu1047Pro) rs1747637768
NM_198253.3(TERT):c.3145G>C (p.Ala1049Pro)
NM_198253.3(TERT):c.3146C>G (p.Ala1049Gly) rs2126562351
NM_198253.3(TERT):c.314A>G (p.Asp105Gly)
NM_198253.3(TERT):c.3153C>A (p.Asn1051Lys)
NM_198253.3(TERT):c.3154G>A (p.Ala1052Thr) rs968981940
NM_198253.3(TERT):c.3154G>T (p.Ala1052Ser)
NM_198253.3(TERT):c.3157+5G>A
NM_198253.3(TERT):c.3158-19del
NM_198253.3(TERT):c.3158G>A (p.Gly1053Glu)
NM_198253.3(TERT):c.316G>T (p.Gly106Trp) rs1751265277
NM_198253.3(TERT):c.316_317inv (p.Gly106Pro)
NM_198253.3(TERT):c.3170G>A (p.Gly1057Glu)
NM_198253.3(TERT):c.3172G>A (p.Ala1058Thr)
NM_198253.3(TERT):c.3173C>T (p.Ala1058Val)
NM_198253.3(TERT):c.3176A>G (p.Lys1059Arg) rs1561186570
NM_198253.3(TERT):c.3177G>C (p.Lys1059Asn) rs1747574274
NM_198253.3(TERT):c.317G>A (p.Gly106Glu) rs1024983534
NM_198253.3(TERT):c.317G>C (p.Gly106Ala)
NM_198253.3(TERT):c.3181G>A (p.Ala1061Thr) rs1418488828
NM_198253.3(TERT):c.3181G>T (p.Ala1061Ser) rs1418488828
NM_198253.3(TERT):c.3184G>T (p.Ala1062Ser) rs35719940
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.3(TERT):c.3193C>G (p.Leu1065Val) rs1747571212
NM_198253.3(TERT):c.3196C>T (p.Pro1066Ser)
NM_198253.3(TERT):c.3199T>G (p.Ser1067Ala) rs1747570810
NM_198253.3(TERT):c.319G>A (p.Ala107Thr) rs1751264625
NM_198253.3(TERT):c.319G>C (p.Ala107Pro) rs1751264625
NM_198253.3(TERT):c.319G>T (p.Ala107Ser) rs1751264625
NM_198253.3(TERT):c.3200C>A (p.Ser1067Tyr) rs1579542703
NM_198253.3(TERT):c.3202G>C (p.Glu1068Gln)
NM_198253.3(TERT):c.3204G>T (p.Glu1068Asp)
NM_198253.3(TERT):c.320C>A (p.Ala107Asp) rs1751264456
NM_198253.3(TERT):c.3212A>G (p.Gln1071Arg)
NM_198253.3(TERT):c.3213G>T (p.Gln1071His) rs1579542670
NM_198253.3(TERT):c.3226C>G (p.Gln1076Glu)
NM_198253.3(TERT):c.3227A>C (p.Gln1076Pro)
NM_198253.3(TERT):c.3229G>C (p.Ala1077Pro) rs1579542647
NM_198253.3(TERT):c.322C>A (p.Arg108Ser) rs1478218565
NM_198253.3(TERT):c.322C>T (p.Arg108Cys)
NM_198253.3(TERT):c.323G>T (p.Arg108Leu)
NM_198253.3(TERT):c.3244C>G (p.Leu1082Val)
NM_198253.3(TERT):c.3248C>G (p.Thr1083Ser) rs997885750
NM_198253.3(TERT):c.3250C>G (p.Arg1084Gly)
NM_198253.3(TERT):c.3251del (p.Arg1084fs)
NM_198253.3(TERT):c.3256C>G (p.Arg1086Gly) rs1747563544
NM_198253.3(TERT):c.3256C>T (p.Arg1086Cys) rs1747563544
NM_198253.3(TERT):c.3257G>T (p.Arg1086Leu)
NM_198253.3(TERT):c.3259G>A (p.Val1087Ile)
NM_198253.3(TERT):c.3263C>A (p.Thr1088Asn)
NM_198253.3(TERT):c.3268G>C (p.Val1090Leu) rs121918664
NM_198253.3(TERT):c.326G>A (p.Gly109Glu)
NM_198253.3(TERT):c.3272C>G (p.Pro1091Arg)
NM_198253.3(TERT):c.3272C>T (p.Pro1091Leu) rs1217591907
NM_198253.3(TERT):c.3289A>G (p.Arg1097Gly)
NM_198253.3(TERT):c.3292A>C (p.Thr1098Pro)
NM_198253.3(TERT):c.3295+10G>A rs376994291
NM_198253.3(TERT):c.3295+1G>A
NM_198253.3(TERT):c.3295+2C>T rs2126559316
NM_198253.3(TERT):c.3295+5G>A rs2126559305
NM_198253.3(TERT):c.3295+5G>C
NM_198253.3(TERT):c.3295+6T>C rs2126559299
NM_198253.3(TERT):c.3295G>A (p.Ala1099Thr) rs2126559326
NM_198253.3(TERT):c.3296-3C>T
NM_198253.3(TERT):c.3296-5C>A
NM_198253.3(TERT):c.3299A>G (p.Gln1100Arg)
NM_198253.3(TERT):c.329G>A (p.Gly110Asp)
NM_198253.3(TERT):c.32G>C (p.Arg11Pro)
NM_198253.3(TERT):c.3300G>A (p.Gln1100=)
NM_198253.3(TERT):c.3304C>G (p.Gln1102Glu)
NM_198253.3(TERT):c.3307C>G (p.Leu1103Val)
NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys) rs1579541768
NM_198253.3(TERT):c.3313C>T (p.Arg1105Trp) rs945881076
NM_198253.3(TERT):c.3317A>G (p.Lys1106Arg) rs1579541749
NM_198253.3(TERT):c.3319C>G (p.Leu1107Val)
NM_198253.3(TERT):c.3319C>T (p.Leu1107Phe)
NM_198253.3(TERT):c.331C>T (p.Pro111Ser) rs1248729123
NM_198253.3(TERT):c.3320T>A (p.Leu1107His)
NM_198253.3(TERT):c.3322C>T (p.Pro1108Ser)
NM_198253.3(TERT):c.3323C>A (p.Pro1108Gln)
NM_198253.3(TERT):c.3323C>G (p.Pro1108Arg) rs376255453
NM_198253.3(TERT):c.3325G>A (p.Gly1109Arg) rs2126557234
NM_198253.3(TERT):c.3326G>A (p.Gly1109Glu)
NM_198253.3(TERT):c.3328A>G (p.Thr1110Ala)
NM_198253.3(TERT):c.332C>G (p.Pro111Arg) rs1060503007
NM_198253.3(TERT):c.3332C>A (p.Thr1111Lys)
NM_198253.3(TERT):c.3334C>A (p.Leu1112Met) rs1579541689
NM_198253.3(TERT):c.3335T>C (p.Leu1112Pro)
NM_198253.3(TERT):c.3337A>C (p.Thr1113Pro)
NM_198253.3(TERT):c.3338C>T (p.Thr1113Ile) rs1404530857
NM_198253.3(TERT):c.3340G>A (p.Ala1114Thr)
NM_198253.3(TERT):c.3341C>T (p.Ala1114Val)
NM_198253.3(TERT):c.3343C>G (p.Leu1115Val)
NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys) rs1196160200
NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln) rs1196160200
NM_198253.3(TERT):c.3350C>A (p.Ala1117Asp) rs372822033
NM_198253.3(TERT):c.3350C>T (p.Ala1117Val) rs372822033
NM_198253.3(TERT):c.3352G>T (p.Ala1118Ser) rs756628621
NM_198253.3(TERT):c.3356C>G (p.Ala1119Gly)
NM_198253.3(TERT):c.3358A>C (p.Asn1120His) rs781651959
NM_198253.3(TERT):c.335C>G (p.Pro112Arg)
NM_198253.3(TERT):c.3361C>A (p.Pro1121Thr)
NM_198253.3(TERT):c.3361C>G (p.Pro1121Ala)
NM_198253.3(TERT):c.3362C>G (p.Pro1121Arg) rs1554038054
NM_198253.3(TERT):c.3362C>T (p.Pro1121Leu) rs1554038054
NM_198253.3(TERT):c.3367C>G (p.Leu1123Val) rs1554038052
NM_198253.3(TERT):c.3371C>T (p.Pro1124Leu) rs2126556867
NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala)
NM_198253.3(TERT):c.3377A>G (p.Asp1126Gly)
NM_198253.3(TERT):c.3386C>A (p.Thr1129Asn) rs775095158
NM_198253.3(TERT):c.3386C>G (p.Thr1129Ser) rs775095158
NM_198253.3(TERT):c.341C>T (p.Ala114Val)
NM_198253.3(TERT):c.343T>C (p.Phe115Leu)
NM_198253.3(TERT):c.34T>C (p.Ser12Pro)
NM_198253.3(TERT):c.350C>T (p.Thr117Ile)
NM_198253.3(TERT):c.352A>T (p.Ser118Cys) rs1751258801
NM_198253.3(TERT):c.353G>A (p.Ser118Asn) rs2126690251
NM_198253.3(TERT):c.359G>C (p.Arg120Pro) rs1554043083
NM_198253.3(TERT):c.363C>G (p.Ser121Arg) rs1751257484
NM_198253.3(TERT):c.365A>G (p.Tyr122Cys) rs1751257287
NM_198253.3(TERT):c.370C>G (p.Pro124Ala) rs2126690168
NM_198253.3(TERT):c.371C>T (p.Pro124Leu)
NM_198253.3(TERT):c.37C>G (p.Leu13Val)
NM_198253.3(TERT):c.389C>T (p.Ala130Val)
NM_198253.3(TERT):c.391C>G (p.Leu131Val) rs1018793583
NM_198253.3(TERT):c.392T>G (p.Leu131Arg) rs1579598607
NM_198253.3(TERT):c.395G>C (p.Arg132Pro)
NM_198253.3(TERT):c.397G>A (p.Gly133Arg)
NM_198253.3(TERT):c.402C>A (p.Ser134Arg)
NM_198253.3(TERT):c.402C>G (p.Ser134Arg)
NM_198253.3(TERT):c.403G>C (p.Gly135Arg) rs200843534
NM_198253.3(TERT):c.40C>A (p.Leu14Met)
NM_198253.3(TERT):c.412G>A (p.Gly138Arg) rs2126689938
NM_198253.3(TERT):c.412G>C (p.Gly138Arg)
NM_198253.3(TERT):c.413G>C (p.Gly138Ala)
NM_198253.3(TERT):c.416T>G (p.Leu139Arg) rs1579598547
NM_198253.3(TERT):c.427C>T (p.Arg143Cys) rs1751246930
NM_198253.3(TERT):c.430G>A (p.Val144Met) rs199422291
NM_198253.3(TERT):c.433G>A (p.Gly145Ser)
NM_198253.3(TERT):c.438C>A (p.Asp146Glu)
NM_198253.3(TERT):c.440A>G (p.Asp147Gly)
NM_198253.3(TERT):c.442G>T (p.Val148Leu) rs745363596
NM_198253.3(TERT):c.448G>C (p.Val150Leu)
NM_198253.3(TERT):c.448G>T (p.Val150Phe) rs1751244550
NM_198253.3(TERT):c.460G>T (p.Ala154Ser)
NM_198253.3(TERT):c.467G>A (p.Cys156Tyr)
NM_198253.3(TERT):c.469G>A (p.Ala157Thr)
NM_198253.3(TERT):c.46A>G (p.Ser16Gly)
NM_198253.3(TERT):c.470C>T (p.Ala157Val) rs2126689651
NM_198253.3(TERT):c.472C>G (p.Leu158Val)
NM_198253.3(TERT):c.472C>T (p.Leu158Phe)
NM_198253.3(TERT):c.479T>C (p.Val160Ala)
NM_198253.3(TERT):c.47G>A (p.Ser16Asn)
NM_198253.3(TERT):c.482T>C (p.Leu161Pro)
NM_198253.3(TERT):c.482T>G (p.Leu161Arg)
NM_198253.3(TERT):c.483G>C (p.Leu161=) rs755155708
NM_198253.3(TERT):c.484G>A (p.Val162Met) rs1751241289
NM_198253.3(TERT):c.491C>T (p.Pro164Leu)
NM_198253.3(TERT):c.49C>T (p.His17Tyr)
NM_198253.3(TERT):c.4C>A (p.Pro2Thr) rs1751303585
NM_198253.3(TERT):c.4C>G (p.Pro2Ala) rs1751303585
NM_198253.3(TERT):c.503A>G (p.Tyr168Cys)
NM_198253.3(TERT):c.508G>C (p.Val170Leu) rs387907248
NM_198253.3(TERT):c.508_531del (p.Val170_Gln177del)
NM_198253.3(TERT):c.515G>A (p.Gly172Glu)
NM_198253.3(TERT):c.517C>T (p.Pro173Ser)
NM_198253.3(TERT):c.518C>A (p.Pro173Gln)
NM_198253.3(TERT):c.518C>G (p.Pro173Arg)
NM_198253.3(TERT):c.518C>T (p.Pro173Leu)
NM_198253.3(TERT):c.51C>G (p.His17Gln)
NM_198253.3(TERT):c.521_547dup (p.Pro174_Thr182dup) rs1561214640
NM_198253.3(TERT):c.524T>C (p.Leu175Pro)
NM_198253.3(TERT):c.530A>G (p.Gln177Arg)
NM_198253.3(TERT):c.532C>G (p.Leu178Val) rs2126689432
NM_198253.3(TERT):c.532C>T (p.Leu178Phe)
NM_198253.3(TERT):c.535G>A (p.Gly179Ser) rs1751238098
NM_198253.3(TERT):c.536G>C (p.Gly179Ala) rs771590775
NM_198253.3(TERT):c.538G>A (p.Ala180Thr) rs1751237418
NM_198253.3(TERT):c.541G>T (p.Ala181Ser) rs759137449
NM_198253.3(TERT):c.542C>T (p.Ala181Val)
NM_198253.3(TERT):c.544A>G (p.Thr182Ala) rs878855305
NM_198253.3(TERT):c.544A>T (p.Thr182Ser) rs878855305
NM_198253.3(TERT):c.545C>G (p.Thr182Ser) rs1001681226
NM_198253.3(TERT):c.545C>T (p.Thr182Ile) rs1001681226
NM_198253.3(TERT):c.547C>G (p.Gln183Glu) rs945064716
NM_198253.3(TERT):c.548A>G (p.Gln183Arg) rs1751235742
NM_198253.3(TERT):c.551C>T (p.Ala184Val)
NM_198253.3(TERT):c.554G>A (p.Arg185Gln) rs749187042
NM_198253.3(TERT):c.556C>T (p.Pro186Ser) rs2126689257
NM_198253.3(TERT):c.557C>T (p.Pro186Leu) rs2126689250
NM_198253.3(TERT):c.559C>A (p.Pro187Thr) rs1751234467
NM_198253.3(TERT):c.55C>G (p.Arg19Gly)
NM_198253.3(TERT):c.560C>T (p.Pro187Leu) rs906128293
NM_198253.3(TERT):c.565C>G (p.His189Asp) rs1561214604
NM_198253.3(TERT):c.565C>T (p.His189Tyr)
NM_198253.3(TERT):c.566A>C (p.His189Pro) rs769638625
NM_198253.3(TERT):c.567C>A (p.His189Gln) rs747935528
NM_198253.3(TERT):c.567C>G (p.His189Gln)
NM_198253.3(TERT):c.568G>T (p.Ala190Ser)
NM_198253.3(TERT):c.569C>A (p.Ala190Asp)
NM_198253.3(TERT):c.569C>G (p.Ala190Gly)
NM_198253.3(TERT):c.56G>T (p.Arg19Leu)
NM_198253.3(TERT):c.572G>A (p.Ser191Asn) rs11952056
NM_198253.3(TERT):c.577C>A (p.Pro193Thr) rs1271112115
NM_198253.3(TERT):c.577C>T (p.Pro193Ser) rs1271112115
NM_198253.3(TERT):c.578C>T (p.Pro193Leu) rs751762765
NM_198253.3(TERT):c.580C>G (p.Arg194Gly)
NM_198253.3(TERT):c.581G>A (p.Arg194Gln) rs1579598204
NM_198253.3(TERT):c.583A>G (p.Arg195Gly)
NM_198253.3(TERT):c.584G>A (p.Arg195Lys)
NM_198253.3(TERT):c.584G>C (p.Arg195Thr)
NM_198253.3(TERT):c.585G>T (p.Arg195Ser)
NM_198253.3(TERT):c.587G>A (p.Arg196His)
NM_198253.3(TERT):c.587G>C (p.Arg196Pro)
NM_198253.3(TERT):c.58G>C (p.Glu20Gln) rs2126692596
NM_198253.3(TERT):c.590T>G (p.Leu197Arg) rs1751230105
NM_198253.3(TERT):c.592G>C (p.Gly198Arg) rs758442518
NM_198253.3(TERT):c.593G>T (p.Gly198Val)
NM_198253.3(TERT):c.598G>A (p.Glu200Lys)
NM_198253.3(TERT):c.599A>G (p.Glu200Gly) rs2126688908
NM_198253.3(TERT):c.5C>G (p.Pro2Arg) rs1751303315
NM_198253.3(TERT):c.5C>T (p.Pro2Leu) rs1751303315
NM_198253.3(TERT):c.602G>A (p.Arg201Gln) rs1060503003
NM_198253.3(TERT):c.602G>C (p.Arg201Pro)
NM_198253.3(TERT):c.607T>A (p.Trp203Arg)
NM_198253.3(TERT):c.607T>G (p.Trp203Gly)
NM_198253.3(TERT):c.608G>C (p.Trp203Ser) rs1751227721
NM_198253.3(TERT):c.609G>C (p.Trp203Cys) rs1561214494
NM_198253.3(TERT):c.610A>T (p.Asn204Tyr)
NM_198253.3(TERT):c.612C>A (p.Asn204Lys) rs2126688826
NM_198253.3(TERT):c.614A>C (p.His205Pro)
NM_198253.3(TERT):c.616A>T (p.Ser206Cys)
NM_198253.3(TERT):c.618C>A (p.Ser206Arg) rs759142412
NM_198253.3(TERT):c.619G>C (p.Val207Leu)
NM_198253.3(TERT):c.623G>A (p.Arg208Lys)
NM_198253.3(TERT):c.625G>A (p.Glu209Lys)
NM_198253.3(TERT):c.627G>T (p.Glu209Asp)
NM_198253.3(TERT):c.628G>A (p.Ala210Thr) rs1751225599
NM_198253.3(TERT):c.634G>A (p.Val212Ile) rs1751224811
NM_198253.3(TERT):c.634G>C (p.Val212Leu)
NM_198253.3(TERT):c.635T>C (p.Val212Ala)
NM_198253.3(TERT):c.637C>T (p.Pro213Ser) rs2126688704
NM_198253.3(TERT):c.638C>T (p.Pro213Leu) rs773202955
NM_198253.3(TERT):c.643G>A (p.Gly215Ser)
NM_198253.3(TERT):c.643G>C (p.Gly215Arg)
NM_198253.3(TERT):c.646C>A (p.Leu216Met)
NM_198253.3(TERT):c.647T>G (p.Leu216Arg)
NM_198253.3(TERT):c.648_649delinsAA (p.Pro217Thr) rs1554043029
NM_198253.3(TERT):c.649C>A (p.Pro217Thr)
NM_198253.3(TERT):c.650C>G (p.Pro217Arg)
NM_198253.3(TERT):c.650C>T (p.Pro217Leu)
NM_198253.3(TERT):c.652G>A (p.Ala218Thr) rs1554043028
NM_198253.3(TERT):c.653C>A (p.Ala218Asp) rs1751222229
NM_198253.3(TERT):c.653C>G (p.Ala218Gly) rs1751222229
NM_198253.3(TERT):c.653C>T (p.Ala218Val)
NM_198253.3(TERT):c.656C>T (p.Pro219Leu)
NM_198253.3(TERT):c.658G>T (p.Gly220Cys)
NM_198253.3(TERT):c.661G>A (p.Ala221Thr) rs2126688553
NM_198253.3(TERT):c.662C>T (p.Ala221Val) rs1751221457
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.3(TERT):c.664A>T (p.Arg222Trp) rs1751220903
NM_198253.3(TERT):c.665G>A (p.Arg222Lys) rs1751220663
NM_198253.3(TERT):c.665G>C (p.Arg222Thr) rs1751220663
NM_198253.3(TERT):c.670C>G (p.Arg224Gly) rs750497661
NM_198253.3(TERT):c.671G>A (p.Arg224His) rs1388678536
NM_198253.3(TERT):c.671_672delinsAA (p.Arg224Gln) rs2126688443
NM_198253.3(TERT):c.673G>A (p.Gly225Arg) rs1060502999
NM_198253.3(TERT):c.673G>C (p.Gly225Arg) rs1060502999
NM_198253.3(TERT):c.676G>T (p.Gly226Cys) rs1751218496
NM_198253.3(TERT):c.677G>T (p.Gly226Val) rs1325261470
NM_198253.3(TERT):c.67C>T (p.Pro23Ser)
NM_198253.3(TERT):c.682G>A (p.Ala228Thr) rs2126688374
NM_198253.3(TERT):c.683C>T (p.Ala228Val)
NM_198253.3(TERT):c.685A>C (p.Ser229Arg) rs1212760122
NM_198253.3(TERT):c.686G>A (p.Ser229Asn) rs1751217170
NM_198253.3(TERT):c.686G>T (p.Ser229Ile)
NM_198253.3(TERT):c.689G>T (p.Arg230Leu) rs957794083
NM_198253.3(TERT):c.68C>A (p.Pro23Gln)
NM_198253.3(TERT):c.692G>A (p.Ser231Asn)
NM_198253.3(TERT):c.695T>G (p.Leu232Arg)
NM_198253.3(TERT):c.696G>T (p.Leu232=) rs1033402019
NM_198253.3(TERT):c.698C>A (p.Pro233Gln)
NM_198253.3(TERT):c.698C>T (p.Pro233Leu)
NM_198253.3(TERT):c.700T>A (p.Leu234Met)
NM_198253.3(TERT):c.701T>G (p.Leu234Trp)
NM_198253.3(TERT):c.706A>G (p.Lys236Glu) rs2126688239
NM_198253.3(TERT):c.710G>A (p.Arg237Lys) rs1751214368
NM_198253.3(TERT):c.712C>G (p.Pro238Ala)
NM_198253.3(TERT):c.712C>T (p.Pro238Ser) rs149427814
NM_198253.3(TERT):c.713C>T (p.Pro238Leu)
NM_198253.3(TERT):c.718C>T (p.Arg240Cys) rs1252662816
NM_198253.3(TERT):c.719G>T (p.Arg240Leu) rs751231538
NM_198253.3(TERT):c.722G>A (p.Gly241Asp)
NM_198253.3(TERT):c.724G>A (p.Ala242Thr) rs766054124
NM_198253.3(TERT):c.724G>T (p.Ala242Ser)
NM_198253.3(TERT):c.727G>A (p.Ala243Thr)
NM_198253.3(TERT):c.730C>A (p.Pro244Thr)
NM_198253.3(TERT):c.731C>A (p.Pro244His)
NM_198253.3(TERT):c.735G>C (p.Glu245Asp)
NM_198253.3(TERT):c.735G>T (p.Glu245Asp)
NM_198253.3(TERT):c.737C>G (p.Pro246Arg)
NM_198253.3(TERT):c.739G>C (p.Glu247Gln) rs1403395035
NM_198253.3(TERT):c.742C>T (p.Arg248Trp)
NM_198253.3(TERT):c.743G>A (p.Arg248Gln) rs1751210062
NM_198253.3(TERT):c.743G>C (p.Arg248Pro) rs1751210062
NM_198253.3(TERT):c.746C>A (p.Thr249Lys)
NM_198253.3(TERT):c.751G>C (p.Val251Leu) rs776569822
NM_198253.3(TERT):c.754G>A (p.Gly252Arg) rs1751208674
NM_198253.3(TERT):c.755G>A (p.Gly252Glu)
NM_198253.3(TERT):c.759G>C (p.Gln253His) rs1579597808
NM_198253.3(TERT):c.760G>T (p.Gly254Trp)
NM_198253.3(TERT):c.761G>A (p.Gly254Glu)
NM_198253.3(TERT):c.761G>C (p.Gly254Ala) rs1364961973
NM_198253.3(TERT):c.761G>T (p.Gly254Val)
NM_198253.3(TERT):c.763T>A (p.Ser255Thr)
NM_198253.3(TERT):c.763T>G (p.Ser255Ala)
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.767G>T (p.Trp256Leu)
NM_198253.3(TERT):c.772C>T (p.His258Tyr) rs1751206811
NM_198253.3(TERT):c.774C>A (p.His258Gln) rs1380946920
NM_198253.3(TERT):c.774C>G (p.His258Gln)
NM_198253.3(TERT):c.776C>A (p.Pro259Gln)
NM_198253.3(TERT):c.777G>A (p.Pro259=) rs746036694
NM_198253.3(TERT):c.77C>A (p.Thr26Lys) rs760727529
NM_198253.3(TERT):c.781A>T (p.Arg261Trp) rs1554042983
NM_198253.3(TERT):c.782G>A (p.Arg261Lys) rs1554042981
NM_198253.3(TERT):c.783G>C (p.Arg261Ser) rs1286573582
NM_198253.3(TERT):c.785C>T (p.Thr262Met) rs150277224
NM_198253.3(TERT):c.786_787delinsAA (p.Arg263Ser)
NM_198253.3(TERT):c.787C>T (p.Arg263Cys)
NM_198253.3(TERT):c.788G>A (p.Arg263His) rs1751204143
NM_198253.3(TERT):c.791G>C (p.Gly264Ala)
NM_198253.3(TERT):c.794C>G (p.Pro265Arg) rs890272771
NM_198253.3(TERT):c.794C>T (p.Pro265Leu) rs890272771
NM_198253.3(TERT):c.799G>A (p.Asp267Asn) rs2126687735
NM_198253.3(TERT):c.799G>C (p.Asp267His)
NM_198253.3(TERT):c.803G>A (p.Arg268His) rs374426285
NM_198253.3(TERT):c.811T>C (p.Cys271Arg) rs1483728464
NM_198253.3(TERT):c.811T>G (p.Cys271Gly)
NM_198253.3(TERT):c.812G>A (p.Cys271Tyr)
NM_198253.3(TERT):c.812G>C (p.Cys271Ser) rs1751201697
NM_198253.3(TERT):c.815T>C (p.Val272Ala)
NM_198253.3(TERT):c.815T>G (p.Val272Gly)
NM_198253.3(TERT):c.817G>A (p.Val273Met)
NM_198253.3(TERT):c.817G>C (p.Val273Leu)
NM_198253.3(TERT):c.820T>A (p.Ser274Thr) rs1751200603
NM_198253.3(TERT):c.823C>T (p.Pro275Ser)
NM_198253.3(TERT):c.824C>T (p.Pro275Leu) rs1751200027
NM_198253.3(TERT):c.827C>A (p.Ala276Asp)
NM_198253.3(TERT):c.82G>C (p.Val28Leu) rs1060503000
NM_198253.3(TERT):c.830G>T (p.Arg277Ile)
NM_198253.3(TERT):c.832C>T (p.Pro278Ser) rs2126687588
NM_198253.3(TERT):c.833C>G (p.Pro278Arg)
NM_198253.3(TERT):c.835G>C (p.Ala279Pro)
NM_198253.3(TERT):c.836C>T (p.Ala279Val)
NM_198253.3(TERT):c.838G>C (p.Glu280Gln)
NM_198253.3(TERT):c.83T>G (p.Val28Gly) rs1561215157
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479
NM_198253.3(TERT):c.848C>T (p.Thr283Ile) rs1231931601
NM_198253.3(TERT):c.850T>C (p.Ser284Pro)
NM_198253.3(TERT):c.851C>T (p.Ser284Phe) rs1279190294
NM_198253.3(TERT):c.853T>G (p.Leu285Val)
NM_198253.3(TERT):c.856G>A (p.Glu286Lys) rs1346650601
NM_198253.3(TERT):c.857A>C (p.Glu286Ala) rs2126687381
NM_198253.3(TERT):c.858G>C (p.Glu286Asp)
NM_198253.3(TERT):c.859G>T (p.Gly287Cys)
NM_198253.3(TERT):c.860G>C (p.Gly287Ala)
NM_198253.3(TERT):c.863C>G (p.Ala288Gly) rs774657340
NM_198253.3(TERT):c.865C>G (p.Leu289Val)
NM_198253.3(TERT):c.865C>T (p.Leu289Phe) rs1167028240
NM_198253.3(TERT):c.866T>C (p.Leu289Pro) rs1751193985
NM_198253.3(TERT):c.869C>T (p.Ser290Phe)
NM_198253.3(TERT):c.874A>C (p.Thr292Pro)
NM_198253.3(TERT):c.875C>G (p.Thr292Arg) rs1751193051
NM_198253.3(TERT):c.875C>T (p.Thr292Met) rs1751193051
NM_198253.3(TERT):c.877C>T (p.Arg293Cys)
NM_198253.3(TERT):c.878G>A (p.Arg293His)
NM_198253.3(TERT):c.878G>T (p.Arg293Leu) rs1309920442
NM_198253.3(TERT):c.882C>G (p.His294Gln)
NM_198253.3(TERT):c.883T>C (p.Ser295Pro)
NM_198253.3(TERT):c.884C>G (p.Ser295Cys)
NM_198253.3(TERT):c.884C>T (p.Ser295Phe)
NM_198253.3(TERT):c.886C>T (p.His296Tyr)
NM_198253.3(TERT):c.889C>A (p.Pro297Thr) rs1751190674
NM_198253.3(TERT):c.889C>G (p.Pro297Ala)
NM_198253.3(TERT):c.889C>T (p.Pro297Ser) rs1751190674
NM_198253.3(TERT):c.88C>G (p.Arg30Gly)
NM_198253.3(TERT):c.890C>T (p.Pro297Leu) rs1212399654
NM_198253.3(TERT):c.892T>C (p.Ser298Pro)
NM_198253.3(TERT):c.892_893delinsAA (p.Ser298Asn) rs1579597416
NM_198253.3(TERT):c.893C>A (p.Ser298Tyr)
NM_198253.3(TERT):c.893C>G (p.Ser298Cys) rs918075673
NM_198253.3(TERT):c.895G>T (p.Val299Leu) rs756624928
NM_198253.3(TERT):c.899G>A (p.Gly300Asp)
NM_198253.3(TERT):c.8G>C (p.Arg3Pro) rs2126693146
NM_198253.3(TERT):c.901C>A (p.Arg301Ser)
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204
NM_198253.3(TERT):c.902G>T (p.Arg301Leu) rs1268051204
NM_198253.3(TERT):c.905A>C (p.Gln302Pro)
NM_198253.3(TERT):c.905A>G (p.Gln302Arg) rs1751188438
NM_198253.3(TERT):c.906G>C (p.Gln302His)
NM_198253.3(TERT):c.908A>T (p.His303Leu) rs1751187792
NM_198253.3(TERT):c.909C>G (p.His303Gln)
NM_198253.3(TERT):c.912C>G (p.His304Gln)
NM_198253.3(TERT):c.913G>A (p.Ala305Thr) rs755275006
NM_198253.3(TERT):c.913G>T (p.Ala305Ser)
NM_198253.3(TERT):c.913_914delinsTT (p.Ala305Leu) rs2126686969
NM_198253.3(TERT):c.913_915delinsTTA (p.Ala305Leu)
NM_198253.3(TERT):c.914C>T (p.Ala305Val)
NM_198253.3(TERT):c.917G>A (p.Gly306Asp) rs1554042920
NM_198253.3(TERT):c.920C>G (p.Pro307Arg) rs1751184986
NM_198253.3(TERT):c.920C>T (p.Pro307Leu)
NM_198253.3(TERT):c.923C>T (p.Pro308Leu) rs763462006
NM_198253.3(TERT):c.929C>T (p.Thr310Ile)
NM_198253.3(TERT):c.931T>A (p.Ser311Thr) rs1060502998
NM_198253.3(TERT):c.932C>T (p.Ser311Leu) rs974018889
NM_198253.3(TERT):c.934C>G (p.Arg312Gly)
NM_198253.3(TERT):c.935G>A (p.Arg312Gln) rs752511903
NM_198253.3(TERT):c.935G>C (p.Arg312Pro) rs752511903
NM_198253.3(TERT):c.937C>T (p.Pro313Ser) rs2126686771
NM_198253.3(TERT):c.938C>A (p.Pro313Gln)
NM_198253.3(TERT):c.940C>T (p.Pro314Ser)
NM_198253.3(TERT):c.941C>T (p.Pro314Leu) rs1306142415
NM_198253.3(TERT):c.943C>A (p.Arg315Ser) rs1554042911
NM_198253.3(TERT):c.943C>G (p.Arg315Gly)
NM_198253.3(TERT):c.943C>T (p.Arg315Cys) rs1554042911
NM_198253.3(TERT):c.947C>A (p.Pro316His)
NM_198253.3(TERT):c.947C>T (p.Pro316Leu)
NM_198253.3(TERT):c.949T>A (p.Trp317Arg)
NM_198253.3(TERT):c.949T>C (p.Trp317Arg)
NM_198253.3(TERT):c.950G>C (p.Trp317Ser)
NM_198253.3(TERT):c.952G>T (p.Asp318Tyr)
NM_198253.3(TERT):c.953A>G (p.Asp318Gly) rs2126686688
NM_198253.3(TERT):c.954C>G (p.Asp318Glu) rs964108245
NM_198253.3(TERT):c.958C>T (p.Pro320Ser)
NM_198253.3(TERT):c.959C>G (p.Pro320Arg) rs1751178484
NM_198253.3(TERT):c.959C>T (p.Pro320Leu) rs1751178484
NM_198253.3(TERT):c.962G>T (p.Cys321Phe)
NM_198253.3(TERT):c.964C>A (p.Pro322Thr)
NM_198253.3(TERT):c.964C>G (p.Pro322Ala) rs1751177770
NM_198253.3(TERT):c.964C>T (p.Pro322Ser)
NM_198253.3(TERT):c.965C>G (p.Pro322Arg) rs1438162956
NM_198253.3(TERT):c.973T>C (p.Tyr325His)
NM_198253.3(TERT):c.973T>G (p.Tyr325Asp) rs1579597164
NM_198253.3(TERT):c.974A>C (p.Tyr325Ser)
NM_198253.3(TERT):c.976G>T (p.Ala326Ser)
NM_198253.3(TERT):c.981G>T (p.Glu327Asp) rs1751174775
NM_198253.3(TERT):c.987G>C (p.Lys329Asn) rs892343950
NM_198253.3(TERT):c.98C>T (p.Pro33Leu) rs2126692176
NM_198253.3(TERT):c.990C>A (p.His330Gln) rs2126686464
NM_198253.3(TERT):c.990C>G (p.His330Gln)
NM_198253.3(TERT):c.999CTC[1] (p.Ser335del) rs1170942980
NR_001566.3(TERC):n.116C>T rs199422272
NR_001566.3(TERC):n.124delG rs2108183234
NR_001566.3(TERC):n.136G>T
NR_001566.3(TERC):n.137C>A
NR_001566.3(TERC):n.160C>A
NR_001566.3(TERC):n.171dup
NR_001566.3(TERC):n.181A>C
NR_001566.3(TERC):n.187T>G
NR_001566.3(TERC):n.18C>T rs751824499
NR_001566.3(TERC):n.191C>T rs756967332
NR_001566.3(TERC):n.198dup rs769251104
NR_001566.3(TERC):n.203C>A
NR_001566.3(TERC):n.206dup rs2108183111
NR_001566.3(TERC):n.219delG
NR_001566.3(TERC):n.232A>C rs878855313
NR_001566.3(TERC):n.232dup
NR_001566.3(TERC):n.242delC rs1171775942
NR_001566.3(TERC):n.246G>A rs1377926219
NR_001566.3(TERC):n.247delC rs1777960875
NR_001566.3(TERC):n.248C>T
NR_001566.3(TERC):n.256C>G
NR_001566.3(TERC):n.269G>A
NR_001566.3(TERC):n.327_328TC[2]
NR_001566.3(TERC):n.335_340GGGCGA[3] rs1577384138
NR_001566.3(TERC):n.341G>A rs1777959766
NR_001566.3(TERC):n.349_357delTTCAGGCCT rs1415168771
NR_001566.3(TERC):n.35C>A rs199422260
NR_001566.3(TERC):n.379C>A
NR_001566.3(TERC):n.385G>A
NR_001566.3(TERC):n.38_39dup rs1350357211
NR_001566.3(TERC):n.38dup
NR_001566.3(TERC):n.391C>T rs1046452760
NR_001566.3(TERC):n.404G>C
NR_001566.3(TERC):n.429dup rs1777957000
NR_001566.3(TERC):n.446_449dup rs1777956725
NR_001566.3(TERC):n.450G>T
NR_001566.3(TERC):n.450dup
NR_001566.3(TERC):n.54A>C rs1288561509
NR_001566.3(TERC):n.61A>G
NR_001566.3(TERC):n.64G>A
NR_001566.3(TERC):n.66C>T rs1577384356
NR_001566.3(TERC):n.73_109del37
NR_001566.3(TERC):n.80delT rs1777963882
NR_001566.3(TERC):n.95G>C rs1777963668
NR_003051.3(RMRP):n.-10_-5dup6 rs1554651437
NR_003051.3(RMRP):n.-12dup rs1554651504
NR_003051.3(RMRP):n.-14_-13dupGA rs1554651511
NR_003051.3(RMRP):n.-15_-14delTG rs1554651515
NR_003051.3(RMRP):n.-17_-15dupTGT rs1554651531
NR_003051.3(RMRP):n.-18_-17dup rs1554651536
NR_003051.3(RMRP):n.-21_-17dup5 rs1472119885
NR_003051.3(RMRP):n.-21_-19dup rs1029136594
NR_003051.3(RMRP):n.-25_-21dup rs1563908297
NR_003051.3(RMRP):n.-25_-24delTA rs1160072325
NR_003051.3(RMRP):n.-29_-23del7 rs1554651555
NR_003051.3(RMRP):n.-30_-21del10 rs1554651552
NR_003051.3(RMRP):n.-50delA rs1168028338
NR_003051.3(RMRP):n.-50dupA rs1168028338
NR_003051.3(RMRP):n.-57_-54delTCATinsCCA rs1554651593
NR_003051.3(RMRP):n.-5_6dup11 rs1554651348
NR_003051.3(RMRP):n.-73_-71delCCA rs1587920033
NR_003051.3(RMRP):n.-88dup rs1052348382
NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC rs1554651349
NR_003051.4(RMRP):n.101C>G rs536333075
NR_003051.4(RMRP):n.101C>T rs536333075
NR_003051.4(RMRP):n.113C>T rs1479610947
NR_003051.4(RMRP):n.115C>G rs769331218
NR_003051.4(RMRP):n.115C>T rs769331218
NR_003051.4(RMRP):n.116_117insCC rs1554651212
NR_003051.4(RMRP):n.117T>G rs1437035543
NR_003051.4(RMRP):n.118_119delAG rs1380611840
NR_003051.4(RMRP):n.120A>G
NR_003051.4(RMRP):n.121_124delCATT rs1191061440
NR_003051.4(RMRP):n.125_126dup rs1554651193
NR_003051.4(RMRP):n.134C>T rs1587918293
NR_003051.4(RMRP):n.13_14insT rs1554651339
NR_003051.4(RMRP):n.141dup rs1554651181
NR_003051.4(RMRP):n.144G>C rs113967059
NR_003051.4(RMRP):n.147C>A rs757576534
NR_003051.4(RMRP):n.148G>C rs753874439
NR_003051.4(RMRP):n.148G>T rs753874439
NR_003051.4(RMRP):n.149C>T rs1085307765
NR_003051.4(RMRP):n.152A>G rs534955648
NR_003051.4(RMRP):n.154A>C rs1428585182
NR_003051.4(RMRP):n.154A>G rs1428585182
NR_003051.4(RMRP):n.156G>T rs752709977
NR_003051.4(RMRP):n.156_172dup rs1587918082
NR_003051.4(RMRP):n.158G>A rs7021463
NR_003051.4(RMRP):n.162C>G rs751373603
NR_003051.4(RMRP):n.165G>A rs1405507797
NR_003051.4(RMRP):n.175G>T rs1823609688
NR_003051.4(RMRP):n.178_179GC[3] rs1554651154
NR_003051.4(RMRP):n.182delG rs1563906794
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.186G>T rs908555769
NR_003051.4(RMRP):n.187C>A rs1051076135
NR_003051.4(RMRP):n.196_204delTCAGCTCCC rs1554651129
NR_003051.4(RMRP):n.1T>C rs188190570
NR_003051.4(RMRP):n.216A>G rs886041234
NR_003051.4(RMRP):n.223G>C rs924622406
NR_003051.4(RMRP):n.223G>T
NR_003051.4(RMRP):n.230C>A rs1169686514
NR_003051.4(RMRP):n.235_238ACCA[1] rs1554651108
NR_003051.4(RMRP):n.237_242delCAACCA rs1554651106
NR_003051.4(RMRP):n.238A>C rs771464779
NR_003051.4(RMRP):n.242A>C rs1038523315
NR_003051.4(RMRP):n.243C>T rs912498335
NR_003051.4(RMRP):n.244A>C rs551450545
NR_003051.4(RMRP):n.245C>T rs1260135124
NR_003051.4(RMRP):n.250C>T rs1554651104
NR_003051.4(RMRP):n.256C>A rs1170858087
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.25_43del19 rs1554651292
NR_003051.4(RMRP):n.262G>A rs769080777
NR_003051.4(RMRP):n.266C>T rs962412737
NR_003051.4(RMRP):n.267T>C rs557906740
NR_003051.4(RMRP):n.27A>G rs1554651331
NR_003051.4(RMRP):n.2G>C rs773520232
NR_003051.4(RMRP):n.2_6dup rs1554651347
NR_003051.4(RMRP):n.37C>G rs549085067
NR_003051.4(RMRP):n.37_38delCT rs1554651307
NR_003051.4(RMRP):n.3G>C rs905844277
NR_003051.4(RMRP):n.45delT rs1554651291
NR_003051.4(RMRP):n.47T>C rs529328233
NR_003051.4(RMRP):n.52C>T rs1064793373
NR_003051.4(RMRP):n.57C>G rs999349961
NR_003051.4(RMRP):n.63G>A rs544069410
NR_003051.4(RMRP):n.66T>A rs1357036842
NR_003051.4(RMRP):n.71_72dup rs1554651256
NR_003051.4(RMRP):n.73A>G rs1554651251
NR_003051.4(RMRP):n.7G>C rs552002151
NR_003051.4(RMRP):n.84C>G rs1372572486
NR_003051.4(RMRP):n.84dup rs1222001621
NR_003051.4(RMRP):n.87C>G rs545284014
NR_003051.4(RMRP):n.87C>T rs545284014
NR_003051.4(RMRP):n.89G>A rs1264110860
NR_003051.4(RMRP):n.8T>G rs587781140
NR_003051.4(RMRP):n.99_101delGCC rs1554651230
Single allele

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