ClinVar Miner

List of variants reported as likely benign for ectodermal dysplasia syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9949
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.396-37C>T rs41297642 0.00322
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_001363.5(DKC1):c.-142C>G rs199422241 0.00229
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_024589.3(ROGDI):c.625C>G (p.Leu209Val) rs144866271 0.00220
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379 0.00212
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00199
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.93C>G (p.Ala31=) rs866226288 0.00194
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) rs59912693 0.00184
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570 0.00177
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_024589.3(ROGDI):c.822+8C>T rs376868221 0.00168
NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe) rs147432147 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp) rs201280372 0.00140
NM_024589.3(ROGDI):c.810G>A (p.Gln270=) rs137912684 0.00139
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys) rs145569979 0.00127
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_020529.3(NFKBIA):c.791G>A (p.Arg264Gln) rs149917774 0.00120
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val) rs143490747 0.00120
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00120
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487 0.00118
NM_014112.5(TRPS1):c.355A>T (p.Thr119Ser) rs201373462 0.00117
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_145861.4(EDARADD):c.161-13T>C rs184596437 0.00110
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr) rs143550996 0.00108
NM_002582.4(PARN):c.1782C>T (p.Thr594=) rs187555579 0.00107
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549 0.00098
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg) rs138007924 0.00097
NM_147127.5(EVC2):c.707-18G>A rs144093697 0.00097
NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu) rs140986557 0.00096
NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn) rs61736617 0.00096
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_024589.3(ROGDI):c.117+9C>G rs374732191 0.00092
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp) rs146818399 0.00088
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724 0.00085
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) rs567650961 0.00084
NM_001283009.2(RTEL1):c.1348+6G>A rs371358328 0.00083
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_147127.5(EVC2):c.1005+3G>A rs141371552 0.00082
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys) rs141074983 0.00080
NM_022336.4(EDAR):c.227C>T (p.Ala76Val) rs143471570 0.00077
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala) rs144140226 0.00077
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=) rs141618172 0.00074
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg) rs147325795 0.00072
NM_153717.3(EVC):c.802-15_802-12del rs386671011 0.00069
NM_004415.4(DSP):c.782C>T (p.Ala261Val) rs139509870 0.00067
NC_000003.12:g.169765159G>C rs540289812 0.00066
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu) rs150444745 0.00064
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn) rs116247954 0.00062
NM_001283009.2(RTEL1):c.3054C>G (p.Pro1018=) rs147894642 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_198253.3(TERT):c.2131-16G>A rs146768484 0.00061
NM_001363.5(DKC1):c.1293G>A (p.Val431=) rs138065506 0.00060
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe) rs148023627 0.00059
NM_020779.4(WDR35):c.1227A>G (p.Thr409=) rs148828104 0.00059
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322 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_198253.3(TERT):c.1836C>G (p.Ala612=) rs34170122 0.00056
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281 0.00055
NM_198253.3(TERT):c.1953C>T (p.Ala651=) rs201088708 0.00054
NM_001814.6(CTSC):c.1314C>T (p.Tyr438=) rs143736590 0.00053
NM_025099.6(CTC1):c.3221+16G>A rs372958727 0.00052
NM_198253.3(TERT):c.3351C>T (p.Ala1117=) rs192377676 0.00052
NM_000165.5(GJA1):c.1128G>A (p.Arg376=) rs145215218 0.00051
NM_001283009.2(RTEL1):c.973C>T (p.Leu325=) rs142739953 0.00051
NM_002582.4(PARN):c.1874C>T (p.Ser625Leu) rs201963032 0.00051
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_002582.4(PARN):c.1464C>T (p.Pro488=) rs61748886 0.00050
NM_014112.5(TRPS1):c.1083C>T (p.Thr361=) rs143724802 0.00050
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_025099.6(CTC1):c.2522G>A (p.Arg841His) rs780358670 0.00049
NM_052989.3(IFT122):c.986C>T (p.Ala329Val) rs200915373 0.00049
NM_147127.5(EVC2):c.1886+7C>G rs376738238 0.00049
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_025216.3(WNT10A):c.745G>A (p.Val249Ile) rs770985751 0.00048
NM_198253.3(TERT):c.2130+10G>A rs373879259 0.00048
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln) rs138076014 0.00047
NM_001283009.2(RTEL1):c.1371C>T (p.Cys457=) rs138399496 0.00046
NM_025099.6(CTC1):c.1140G>T (p.Gly380=) rs201392995 0.00046
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=) rs116788553 0.00045
NM_014112.5(TRPS1):c.1171A>C (p.Asn391His) rs368184534 0.00045
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_025099.6(CTC1):c.2508C>G (p.Ser836=) rs146214808 0.00045
NM_001082486.2(ACD):c.645+17G>A rs148412951 0.00044
NM_001110219.3(GJB6):c.6T>C (p.Asp2=) rs200415730 0.00044
NM_001283009.2(RTEL1):c.2413+15C>T rs376389450 0.00044
NM_052989.3(IFT122):c.2908C>T (p.Arg970Cys) rs145470016 0.00044
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_001283009.2(RTEL1):c.1482-7C>T rs189271525 0.00043
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_147127.5(EVC2):c.229-4T>G rs375534154 0.00043
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=) rs144640614 0.00042
NM_024589.3(ROGDI):c.516C>T (p.Ala172=) rs140043147 0.00042
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_001283009.2(RTEL1):c.3109+11C>T rs369098224 0.00041
NM_002448.3(MSX1):c.95C>T (p.Ala32Val) rs771408025 0.00041
NM_014112.5(TRPS1):c.2645A>G (p.Gln882Arg) rs369004633 0.00041
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_001283009.2(RTEL1):c.612C>T (p.His204=) rs142711955 0.00040
NM_052989.3(IFT122):c.3266-19C>T rs201753855 0.00040
NM_004415.4(DSP):c.4500G>T (p.Leu1500=) rs372881903 0.00039
NM_022836.4(DCLRE1B):c.732T>C (p.Arg244=) rs200330629 0.00039
NM_198253.3(TERT):c.1968G>A (p.Ser656=) rs368784316 0.00039
NM_004415.4(DSP):c.6296C>T (p.Pro2099Leu) rs201625698 0.00038
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279 0.00038
NM_018648.4(NOP10):c.55-9C>T rs72720799 0.00037
NM_052989.3(IFT122):c.416+18G>A rs147288978 0.00037
NM_147127.5(EVC2):c.3272+17G>A rs367667945 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_004415.4(DSP):c.6319G>C (p.Val2107Leu) rs144263721 0.00036
NM_004415.4(DSP):c.8199G>C (p.Thr2733=) rs145085696 0.00036
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_025099.6(CTC1):c.197+16G>A rs370799756 0.00036
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) rs148626512 0.00036
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=) rs116502880 0.00035
NM_001283009.2(RTEL1):c.2325C>T (p.Ser775=) rs138950475 0.00035
NM_001283009.2(RTEL1):c.2796C>T (p.Ala932=) rs143740470 0.00035
NM_001283009.2(RTEL1):c.2851+8G>C rs376962635 0.00035
NM_001363.5(DKC1):c.1317C>T (p.Ala439=) rs143207180 0.00035
NM_022336.4(EDAR):c.731-4G>T rs201539805 0.00035
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) rs113967308 0.00034
NM_017838.4(NHP2):c.369C>T (p.Pro123=) rs375285426 0.00034
NM_025099.6(CTC1):c.3568G>A (p.Val1190Met) rs371036203 0.00034
NM_052989.3(IFT122):c.1553G>A (p.Arg518His) rs138223055 0.00034
NM_147127.5(EVC2):c.1470+20A>G rs375025494 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_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_004415.4(DSP):c.6295C>A (p.Pro2099Thr) rs200752536 0.00033
NM_147127.5(EVC2):c.48G>T (p.Gly16=) rs537265864 0.00033
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00033
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) rs778513540 0.00032
NM_001283009.2(RTEL1):c.489C>T (p.Cys163=) rs142058793 0.00032
NM_004415.4(DSP):c.531C>G (p.Gly177=) rs138865799 0.00032
NM_024589.3(ROGDI):c.348C>T (p.Ala116=) rs148870636 0.00032
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527 0.00032
NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg) rs371046424 0.00032
NM_052989.3(IFT122):c.2643C>T (p.Ala881=) rs150055466 0.00032
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633 0.00031
NM_002448.3(MSX1):c.821C>T (p.Ala274Val) rs62636562 0.00031
NM_020779.4(WDR35):c.2965-4G>T rs199696980 0.00031
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr) rs201203345 0.00031
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622 0.00030
NM_004415.4(DSP):c.1574+7C>T rs375717504 0.00030
NM_020529.3(NFKBIA):c.336+16G>C rs2233414 0.00030
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_020779.4(WDR35):c.681T>C (p.Leu227=) rs143901897 0.00030
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564 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_001283009.2(RTEL1):c.1037+10G>A rs368590236 0.00029
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00029
NM_004415.4(DSP):c.5991G>A (p.Gly1997=) rs538244495 0.00029
NM_014112.5(TRPS1):c.3202G>A (p.Val1068Ile) rs200107935 0.00029
NM_024589.3(ROGDI):c.823-14C>G rs201283169 0.00029
NM_052989.3(IFT122):c.417-16T>C rs192128912 0.00029
NM_153717.3(EVC):c.1928G>A (p.Arg643His) rs144906677 0.00029
NM_001283009.2(RTEL1):c.2992+11C>T rs200228490 0.00028
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu) rs376216833 0.00028
NM_147127.5(EVC2):c.1886+11A>G rs61218140 0.00028
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031 0.00027
NM_017838.4(NHP2):c.160+18G>T rs202078932 0.00027
NM_020529.3(NFKBIA):c.409C>T (p.Pro137Ser) rs147627228 0.00027
NM_025099.6(CTC1):c.3079G>A (p.Ala1027Thr) rs374126761 0.00027
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_014112.5(TRPS1):c.170A>G (p.Glu57Gly) rs201770819 0.00026
NM_014112.5(TRPS1):c.310C>T (p.Pro104Ser) rs200964070 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_001283009.2(RTEL1):c.2556+20G>A rs183461089 0.00025
NM_001283009.2(RTEL1):c.3822+8C>T rs373109673 0.00025
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) rs370550974 0.00025
NM_004415.4(DSP):c.7848G>A (p.Ser2616=) rs148798300 0.00025
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_198253.3(TERT):c.403G>A (p.Gly135Arg) rs200843534 0.00025
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863 0.00024
NM_001283009.2(RTEL1):c.3000G>A (p.Thr1000=) rs139384702 0.00024
NM_014112.5(TRPS1):c.2793C>T (p.Asn931=) rs376942817 0.00024
NM_025099.6(CTC1):c.1530C>T (p.Thr510=) rs376217684 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_025216.3(WNT10A):c.514A>T (p.Arg172Trp) rs145641272 0.00024
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His) rs149029829 0.00024
NM_147127.5(EVC2):c.2898G>A (p.Ser966=) rs150055324 0.00024
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_198253.3(TERT):c.1951-6C>T rs200461281 0.00024
NM_002582.4(PARN):c.1434C>T (p.Asp478=) rs368012289 0.00023
NM_004415.4(DSP):c.2794-4dup rs397516924 0.00023
NM_024589.3(ROGDI):c.420T>C (p.Ala140=) rs1464249475 0.00023
NM_153717.3(EVC):c.174+16A>G rs1049950431 0.00023
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_001283009.2(RTEL1):c.1595+9C>T rs370145267 0.00022
NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=) rs199578945 0.00022
NM_002448.3(MSX1):c.324G>T (p.Ala108=) rs574606351 0.00022
NM_004415.4(DSP):c.422+14A>G rs533188973 0.00022
NM_004415.4(DSP):c.6207C>T (p.Val2069=) rs147398792 0.00022
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127 0.00022
NM_025099.6(CTC1):c.3515-10C>T rs200225342 0.00022
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_001110219.3(GJB6):c.480G>A (p.Gly160=) rs145762940 0.00021
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met) rs141717966 0.00021
NM_002448.3(MSX1):c.778C>A (p.Pro260Thr) rs535538923 0.00021
NM_002582.4(PARN):c.1413T>C (p.Ile471=) rs371869778 0.00021
NM_002582.4(PARN):c.1635C>G (p.Pro545=) rs372937126 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) rs762561997 0.00021
NM_024589.3(ROGDI):c.27G>C (p.Ala9=) rs766321436 0.00021
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys) rs201273283 0.00021
NM_052989.3(IFT122):c.1380C>T (p.Ser460=) rs142641511 0.00021
NM_052989.3(IFT122):c.1525G>A (p.Val509Ile) rs368750069 0.00021
NM_052989.3(IFT122):c.531G>A (p.Ser177=) rs150496357 0.00021
NM_147127.5(EVC2):c.894C>T (p.His298=) rs143027693 0.00021
NM_198253.3(TERT):c.3207C>T (p.Ala1069=) rs376835357 0.00021
NM_000165.5(GJA1):c.1050A>G (p.Gly350=) rs147277470 0.00020
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=) rs78258482 0.00020
NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=) rs140564753 0.00020
NM_001283009.2(RTEL1):c.919+17A>G rs764198775 0.00020
NM_052989.3(IFT122):c.2424G>C (p.Leu808=) rs148188237 0.00020
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_001082486.2(ACD):c.1152G>A (p.Pro384=) rs147116458 0.00019
NM_001283009.2(RTEL1):c.1038-15T>C rs200181490 0.00019
NM_001283009.2(RTEL1):c.1349-9G>A rs772899702 0.00019
NM_001283009.2(RTEL1):c.3393G>A (p.Thr1131=) rs142965557 0.00019
NM_001283009.2(RTEL1):c.396-18G>A rs200598131 0.00019
NM_002582.4(PARN):c.1406-9C>T rs530099133 0.00019
NM_002582.4(PARN):c.389-8G>A rs200322751 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004415.4(DSP):c.6351T>C (p.Asp2117=) rs148743859 0.00019
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_014112.5(TRPS1):c.1008A>G (p.Thr336=) rs749317963 0.00019
NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly) rs139352103 0.00019
NM_025099.6(CTC1):c.2407T>G (p.Ser803Ala) rs199989447 0.00019
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.3074C>T (p.Ala1025Val) rs183966301 0.00019
NM_025099.6(CTC1):c.3567C>T (p.His1189=) rs374942931 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_025216.3(WNT10A):c.609A>G (p.Pro203=) rs201375368 0.00019
NM_147127.5(EVC2):c.2958C>T (p.Thr986=) rs567792423 0.00019
NM_153717.3(EVC):c.617+17A>G rs113726930 0.00019
NM_000165.5(GJA1):c.327A>G (p.Lys109=) rs145279962 0.00018
NM_001283009.2(RTEL1):c.1136-18C>T rs377380761 0.00018
NM_001283009.2(RTEL1):c.2523C>T (p.Ser841=) rs764719355 0.00018
NM_025099.6(CTC1):c.1479A>G (p.Gln493=) rs188654013 0.00018
NM_025099.6(CTC1):c.2345G>C (p.Gly782Ala) rs530949904 0.00018
NM_198253.3(TERT):c.597C>T (p.Cys199=) rs751029411 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_000165.5(GJA1):c.411C>T (p.Tyr137=) rs201088822 0.00017
NM_001006657.2(WDR35):c.1203C>T (p.Asn401=) rs142103808 0.00017
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala) rs200779585 0.00017
NM_004415.4(DSP):c.2121C>T (p.Asn707=) rs368590198 0.00017
NM_004415.4(DSP):c.3153C>T (p.Asn1051=) rs563387839 0.00017
NM_001082486.2(ACD):c.837G>A (p.Pro279=) rs201965477 0.00016
NM_001283009.2(RTEL1):c.1800+15G>A rs371760783 0.00016
NM_001283009.2(RTEL1):c.2265+13C>G rs369694643 0.00016
NM_001283009.2(RTEL1):c.3174C>T (p.His1058=) rs146247083 0.00016
NM_001814.6(CTSC):c.263A>G (p.Tyr88Cys) rs142378484 0.00016
NM_004415.4(DSP):c.7599T>C (p.Ala2533=) rs374266378 0.00016
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser) rs369682599 0.00016
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu) rs146506752 0.00016
NM_022336.4(EDAR):c.1119G>A (p.Thr373=) rs144939741 0.00016
NM_025099.6(CTC1):c.3384T>C (p.Leu1128=) rs945189616 0.00016
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=) rs531326479 0.00016
NM_147127.5(EVC2):c.588G>A (p.Ser196=) rs566778000 0.00016
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640 0.00016
NM_147127.5(EVC2):c.984A>T (p.Gly328=) rs1023236102 0.00016
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773 0.00016
NM_153717.3(EVC):c.702+16C>T rs180960931 0.00016
NM_198253.3(TERT):c.2131-14C>T rs761187544 0.00016
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) rs141425941 0.00016
NM_198253.3(TERT):c.2582+17C>T rs149583527 0.00016
NM_001082486.2(ACD):c.846C>T (p.Pro282=) rs199856965 0.00015
NM_001363.5(DKC1):c.1059G>A (p.Ala353=) rs375274293 0.00015
NM_001363.5(DKC1):c.1362A>G (p.Glu454=) rs782342369 0.00015
NM_024589.3(ROGDI):c.823-15C>T rs372520122 0.00015
NM_052989.3(IFT122):c.1821C>A (p.Val607=) rs141632773 0.00015
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=) rs373152133 0.00015
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) rs2227885 0.00014
NM_000165.5(GJA1):c.432G>A (p.Lys144=) rs201994305 0.00014
NM_001283009.2(RTEL1):c.1713G>A (p.Glu571=) rs141229183 0.00014
NM_001283009.2(RTEL1):c.2026-20C>T rs369387432 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763 0.00014
NM_004415.4(DSP):c.6192T>C (p.Asn2064=) rs371230455 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_014112.5(TRPS1):c.515A>G (p.Lys172Arg) rs775998078 0.00014
NM_014112.5(TRPS1):c.89A>C (p.Glu30Ala) rs763955674 0.00014
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=) rs182360785 0.00014
NM_022836.4(DCLRE1B):c.1137T>A (p.Ser379=) rs183344879 0.00014
NM_025099.6(CTC1):c.3246C>T (p.Ala1082=) rs201124470 0.00014
NM_025216.3(WNT10A):c.775C>A (p.Arg259=) rs576855744 0.00014
NM_025216.3(WNT10A):c.918C>G (p.Asn306Lys) rs745513263 0.00014
NM_052989.3(IFT122):c.1139A>G (p.Glu380Gly) rs755060067 0.00014
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 0.00014
NM_052989.3(IFT122):c.2715C>T (p.Ala905=) rs143748879 0.00014
NM_147127.5(EVC2):c.3483G>A (p.Ser1161=) rs374038474 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_153717.3(EVC):c.702+17G>T rs559719173 0.00014
NM_198253.3(TERT):c.645C>T (p.Gly215=) rs768426236 0.00014
NM_198253.3(TERT):c.885C>T (p.Ser295=) rs367957748 0.00014
NM_000165.5(GJA1):c.706G>A (p.Val236Ile) rs148384161 0.00013
NM_001099274.3(TINF2):c.520C>T (p.Leu174=) rs374116388 0.00013
NM_001283009.2(RTEL1):c.2414-15C>T rs369129770 0.00013
NM_001363.5(DKC1):c.399C>T (p.Ile133=) rs140714103 0.00013
NM_002582.4(PARN):c.1193-8T>G rs372257813 0.00013
NM_004415.4(DSP):c.1575-15C>G rs369184165 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_004415.4(DSP):c.4386C>T (p.Ser1462=) rs149981214 0.00013
NM_014112.5(TRPS1):c.422C>T (p.Pro141Leu) rs201699015 0.00013
NM_017838.4(NHP2):c.143A>G (p.Tyr48Cys) rs200150979 0.00013
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly) rs369515554 0.00013
NM_052989.3(IFT122):c.1383A>G (p.Gly461=) rs147887396 0.00013
NM_147127.5(EVC2):c.284-17G>A rs201654752 0.00013
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_198253.3(TERT):c.2370C>T (p.Val790=) rs376251639 0.00013
NM_001283009.2(RTEL1):c.1806C>T (p.Ile602=) rs202119059 0.00012
NM_001283009.2(RTEL1):c.1879-16C>A rs373555734 0.00012
NM_001283009.2(RTEL1):c.2026-19G>A rs373125587 0.00012
NM_001283009.2(RTEL1):c.2874C>A (p.Pro958=) rs369953611 0.00012
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser) rs150686112 0.00012
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) rs202049575 0.00012
NM_004415.4(DSP):c.7125G>A (p.Gly2375=) rs141709096 0.00012
NM_147127.5(EVC2):c.450+17A>G rs370958428 0.00012
NM_153717.3(EVC):c.2583G>A (p.Arg861=) rs145317746 0.00012
NM_198253.3(TERT):c.1769+15C>T rs201844905 0.00012
NM_198253.3(TERT):c.2076C>A (p.Thr692=) rs748724920 0.00012
NM_000165.5(GJA1):c.189T>C (p.Asn63=) rs139688042 0.00011
NM_000165.5(GJA1):c.456G>A (p.Leu152=) rs72548741 0.00011
NM_001099274.3(TINF2):c.1003C>T (p.Leu335=) rs200990844 0.00011
NM_001283009.2(RTEL1):c.2851+20C>A rs747329908 0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00011
NM_001283009.2(RTEL1):c.891G>A (p.Pro297=) rs771117146 0.00011
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg) rs376632263 0.00011
NM_002448.3(MSX1):c.65G>A (p.Gly22Asp) rs755151662 0.00011
NM_002582.4(PARN):c.1405+7C>T rs529494184 0.00011
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_004415.4(DSP):c.237C>T (p.Ser79=) rs146521568 0.00011
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_004415.4(DSP):c.6360C>T (p.Thr2120=) rs374252141 0.00011
NM_004415.4(DSP):c.6753G>A (p.Lys2251=) rs750294829 0.00011
NM_004415.4(DSP):c.816G>A (p.Leu272=) rs376184294 0.00011
NM_014112.5(TRPS1):c.1416C>T (p.His472=) rs186297164 0.00011
NM_014112.5(TRPS1):c.2796G>A (p.Ala932=) rs539395441 0.00011
NM_014112.5(TRPS1):c.2988G>A (p.Arg996=) rs202158991 0.00011
NM_014112.5(TRPS1):c.3051C>T (p.Tyr1017=) rs140839419 0.00011
NM_014112.5(TRPS1):c.3224C>G (p.Ser1075Cys) rs190186284 0.00011
NM_017838.4(NHP2):c.72C>T (p.Tyr24=) rs202221169 0.00011
NM_024589.3(ROGDI):c.646-11G>A rs371728918 0.00011
NM_024589.3(ROGDI):c.695+16C>T rs377688304 0.00011
NM_025099.6(CTC1):c.3600T>C (p.Ser1200=) rs761178911 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_052989.3(IFT122):c.2987+15A>G rs373111458 0.00011
NM_147127.5(EVC2):c.3858C>T (p.His1286=) rs368103321 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.540G>A (p.Ser180=) rs200120462 0.00011
NM_153717.3(EVC):c.690G>A (p.Gln230=) rs563481672 0.00011
NM_153717.3(EVC):c.77C>T (p.Ala26Val) rs1035520087 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_198253.3(TERT):c.1770-7A>G rs373713123 0.00011
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_198253.3(TERT):c.2178G>A (p.Thr726=) rs199422288 0.00011
NM_198253.3(TERT):c.3186C>T (p.Ala1062=) rs201067706 0.00011
NM_000165.5(GJA1):c.825C>T (p.Thr275=) rs777305726 0.00010
NM_001283009.2(RTEL1):c.2358C>T (p.Thr786=) rs202106904 0.00010
NM_001283009.2(RTEL1):c.477+10T>C rs767872427 0.00010
NM_001363.5(DKC1):c.600C>T (p.Tyr200=) rs781789313 0.00010
NM_001814.6(CTSC):c.930C>T (p.Tyr310=) rs148742372 0.00010
NM_002582.4(PARN):c.1131C>T (p.His377=) rs200644588 0.00010
NM_002582.4(PARN):c.1572A>G (p.Arg524=) rs370717086 0.00010
NM_002582.4(PARN):c.703-6T>C rs370304152 0.00010
NM_004415.4(DSP):c.1140+6T>C rs534740669 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.4780C>T (p.Leu1594=) rs149463707 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_004415.4(DSP):c.8493G>C (p.Ser2831=) rs397516969 0.00010
NM_004415.4(DSP):c.987G>A (p.Leu329=) rs564435126 0.00010
NM_024589.3(ROGDI):c.433-14G>A rs772226487 0.00010
NM_024589.3(ROGDI):c.45+16C>A rs750545355 0.00010
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) rs200137992 0.00010
NM_025216.3(WNT10A):c.159C>T (p.Pro53=) rs143421847 0.00010
NM_025216.3(WNT10A):c.444G>A (p.Ala148=) rs147145554 0.00010
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 0.00010
NM_198253.3(TERT):c.1656C>T (p.Tyr552=) rs143789839 0.00010
NM_198253.3(TERT):c.1983G>A (p.Leu661=) rs375454175 0.00010
NM_198253.3(TERT):c.2151C>T (p.Tyr717=) rs147261325 0.00010
NM_198253.3(TERT):c.2475C>T (p.Tyr825=) rs141382603 0.00010
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259 0.00009
NM_001283009.2(RTEL1):c.1135+15G>A rs533420625 0.00009
NM_001283009.2(RTEL1):c.1161C>T (p.Ala387=) rs141241780 0.00009
NM_001283009.2(RTEL1):c.1357C>T (p.Leu453=) rs1451923572 0.00009
NM_001283009.2(RTEL1):c.1395C>T (p.His465=) rs376423914 0.00009
NM_001283009.2(RTEL1):c.1626G>A (p.Gly542=) rs140629792 0.00009
NM_001283009.2(RTEL1):c.2508C>T (p.Ala836=) rs147245368 0.00009
NM_001283009.2(RTEL1):c.3585G>A (p.Ala1195=) rs368887784 0.00009
NM_001283009.2(RTEL1):c.393C>T (p.Tyr131=) rs1026158211 0.00009
NM_002582.4(PARN):c.703-13T>C rs537606213 0.00009
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_004415.4(DSP):c.3096C>T (p.Thr1032=) rs139199849 0.00009
NM_004415.4(DSP):c.3981C>T (p.Ile1327=) rs397516934 0.00009
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018 0.00009
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr) rs191778417 0.00009
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004415.4(DSP):c.5796C>G (p.Arg1932=) rs148845182 0.00009
NM_004415.4(DSP):c.7077C>T (p.Ile2359=) rs966841386 0.00009
NM_014112.5(TRPS1):c.3770A>G (p.Gln1257Arg) rs201029096 0.00009
NM_020779.4(WDR35):c.1861T>C (p.Ser621Pro) rs199882056 0.00009
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly) rs139543775 0.00009
NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn) rs568980956 0.00009
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 0.00009
NM_025216.3(WNT10A):c.429C>T (p.His143=) rs747642854 0.00009
NM_147127.5(EVC2):c.129C>T (p.Gly43=) rs985034372 0.00009
NM_147127.5(EVC2):c.2793C>T (p.Leu931=) rs764663533 0.00009
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584 0.00009
NM_147127.5(EVC2):c.3558-6C>T rs527866261 0.00009
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327 0.00009
NM_147127.5(EVC2):c.817-17C>A rs371482683 0.00009
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00009
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 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.2019C>T (p.Pro673=) rs762941707 0.00009
NM_198253.3(TERT):c.2118G>A (p.Leu706=) rs377030225 0.00009
NM_198253.3(TERT):c.2214G>A (p.Thr738=) rs200858212 0.00009
NM_198253.3(TERT):c.2654+15G>A rs372081008 0.00009
NM_198253.3(TERT):c.3159G>A (p.Gly1053=) rs200002330 0.00009
NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu) rs201330213 0.00009
NM_198253.3(TERT):c.3363G>A (p.Pro1121=) rs750020682 0.00009
NM_001082486.2(ACD):c.493+7T>C rs199626332 0.00008
NM_001099274.3(TINF2):c.1302C>T (p.His434=) rs568909774 0.00008
NM_001110219.3(GJB6):c.672A>G (p.Arg224=) rs756597598 0.00008
NM_001283009.2(RTEL1):c.1518C>T (p.Ile506=) rs757231662 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.869C>T (p.Ala290Val) rs202157063 0.00008
NM_001283009.2(RTEL1):c.959-9G>A rs373436285 0.00008
NM_001363.5(DKC1):c.85-4G>A rs782787521 0.00008
NM_001814.6(CTSC):c.777C>T (p.Tyr259=) rs147002502 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_004415.4(DSP):c.888C>T (p.Tyr296=) rs149701627 0.00008
NM_020779.4(WDR35):c.2109T>G (p.Thr703=) rs201822027 0.00008
NM_022336.4(EDAR):c.1038G>A (p.Thr346=) rs141067689 0.00008
NM_022836.4(DCLRE1B):c.1434C>T (p.Gly478=) rs199507509 0.00008
NM_024589.3(ROGDI):c.822+18G>A rs774729804 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_052989.3(IFT122):c.2721G>A (p.Ala907=) rs371570973 0.00008
NM_147127.5(EVC2):c.1041G>A (p.Pro347=) rs778170817 0.00008
NM_147127.5(EVC2):c.2250G>A (p.Glu750=) rs552887116 0.00008
NM_147127.5(EVC2):c.297T>G (p.Leu99=) rs780711879 0.00008
NM_147127.5(EVC2):c.3558-8G>A rs775806827 0.00008
NM_147127.5(EVC2):c.520-6C>T rs747479747 0.00008
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_198253.3(TERT):c.2127C>G (p.Val709=) rs765264494 0.00008
NM_198253.3(TERT):c.3033-14C>T rs375275274 0.00008
NM_000165.5(GJA1):c.1098A>G (p.Arg366=) rs372862876 0.00007
NM_000165.5(GJA1):c.99A>G (p.Arg33=) rs752719742 0.00007
NM_001110219.3(GJB6):c.30C>T (p.Ile10=) rs377181573 0.00007
NM_001283009.2(RTEL1):c.1437C>T (p.Ser479=) rs140055045 0.00007
NM_001283009.2(RTEL1):c.2436C>T (p.Pro812=) rs370202708 0.00007
NM_001283009.2(RTEL1):c.3343+16G>A rs370395788 0.00007
NM_001283009.2(RTEL1):c.3499+6G>A rs201617354 0.00007
NM_001283009.2(RTEL1):c.3630C>T (p.His1210=) rs564198378 0.00007
NM_001283009.2(RTEL1):c.94C>T (p.Leu32=) rs375849124 0.00007
NM_001363.5(DKC1):c.1155+20G>A rs782743841 0.00007
NM_001363.5(DKC1):c.494G>C (p.Gly165Ala) rs782622660 0.00007
NM_001363.5(DKC1):c.582C>G (p.Leu194=) rs782546233 0.00007
NM_001399.5(EDA):c.870C>T (p.Ser290=) rs760869403 0.00007
NM_002448.3(MSX1):c.195G>A (p.Ala65=) rs771658240 0.00007
NM_002448.3(MSX1):c.624G>T (p.Ser208=) rs369820958 0.00007
NM_002582.4(PARN):c.1320G>A (p.Leu440=) rs376352894 0.00007
NM_004415.4(DSP):c.1044+10A>C rs750114473 0.00007
NM_004415.4(DSP):c.1044+12G>A rs775969969 0.00007
NM_004415.4(DSP):c.1839C>T (p.Thr613=) rs397516921 0.00007
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617 0.00007
NM_004415.4(DSP):c.4749C>T (p.Thr1583=) rs745348231 0.00007
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) rs144106775 0.00007
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg) rs202232360 0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.7563T>C (p.Asp2521=) rs984412074 0.00007
NM_014112.5(TRPS1):c.2470C>T (p.Leu824=) rs201981301 0.00007
NM_020779.4(WDR35):c.2847A>G (p.Lys949=) rs373983961 0.00007
NM_025099.6(CTC1):c.2476-7C>T rs189539795 0.00007
NM_025216.3(WNT10A):c.125A>G (p.Asn42Ser) rs149865858 0.00007
NM_025216.3(WNT10A):c.636C>T (p.Gly212=) rs200233504 0.00007
NM_025216.3(WNT10A):c.874A>G (p.Ser292Gly) rs767665930 0.00007
NM_052989.3(IFT122):c.1489-16G>A rs576753615 0.00007
NM_147127.5(EVC2):c.2202C>T (p.Asp734=) rs199788223 0.00007
NM_147127.5(EVC2):c.2613C>T (p.Ile871=) rs759358405 0.00007
NM_147127.5(EVC2):c.3636G>C (p.Leu1212=) rs749901674 0.00007
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00007
NM_198253.3(TERT):c.2108C>T (p.Pro703Leu) rs564647937 0.00007
NM_198253.3(TERT):c.2256T>C (p.His752=) rs745650751 0.00007
NM_198253.3(TERT):c.2469-7G>A rs753034642 0.00007
NM_198253.3(TERT):c.3032+8G>A rs746348646 0.00007
NM_198253.3(TERT):c.3296-5C>T rs371015305 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
NM_001099274.3(TINF2):c.1029C>T (p.Asn343=) rs199597631 0.00006
NM_001283009.2(RTEL1):c.12A>C (p.Ile4=) rs779748543 0.00006
NM_001283009.2(RTEL1):c.1380C>T (p.Pro460=) rs760887663 0.00006
NM_001283009.2(RTEL1):c.1800+8C>T rs765664650 0.00006
NM_001283009.2(RTEL1):c.1851C>T (p.Ala617=) rs748314839 0.00006
NM_001283009.2(RTEL1):c.195C>T (p.Asp65=) rs752413439 0.00006
NM_001283009.2(RTEL1):c.2025+8dup rs760972646 0.00006
NM_001283009.2(RTEL1):c.2157C>T (p.Asp719=) rs752607917 0.00006
NM_001283009.2(RTEL1):c.2413+8C>T rs758975241 0.00006
NM_001283009.2(RTEL1):c.2535G>A (p.Ala845=) rs751482700 0.00006
NM_001283009.2(RTEL1):c.2748C>T (p.Thr916=) rs146662746 0.00006
NM_001283009.2(RTEL1):c.3003G>A (p.Ala1001=) rs368070468 0.00006
NM_001283009.2(RTEL1):c.3222G>A (p.Ala1074=) rs575430966 0.00006
NM_001283009.2(RTEL1):c.3267C>T (p.Asp1089=) rs370637234 0.00006
NM_001283009.2(RTEL1):c.3273C>T (p.Asp1091=) rs528125869 0.00006
NM_001283009.2(RTEL1):c.3357T>C (p.Phe1119=) rs371805350 0.00006
NM_001283009.2(RTEL1):c.3540G>A (p.Lys1180=) rs372877885 0.00006
NM_001283009.2(RTEL1):c.3753C>T (p.Asp1251=) rs756080962 0.00006
NM_001283009.2(RTEL1):c.705C>T (p.Arg235=) rs758562350 0.00006
NM_001363.5(DKC1):c.1036+8G>A rs782446632 0.00006
NM_001363.5(DKC1):c.1167G>A (p.Lys389=) rs369066088 0.00006
NM_002582.4(PARN):c.1081+16C>T rs552550807 0.00006
NM_002582.4(PARN):c.1405+8G>A rs373527624 0.00006
NM_002582.4(PARN):c.15G>A (p.Arg5=) rs559617389 0.00006
NM_002582.4(PARN):c.1773T>G (p.Leu591=) rs528847015 0.00006
NM_002582.4(PARN):c.328-16G>A rs372305239 0.00006
NM_004415.4(DSP):c.1155G>A (p.Ala385=) rs140488069 0.00006
NM_004415.4(DSP):c.183G>A (p.Thr61=) rs150383703 0.00006
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys) rs773113261 0.00006
NM_004415.4(DSP):c.2437-20T>G rs778134276 0.00006
NM_004415.4(DSP):c.2630+19G>A rs139830549 0.00006
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu) rs535762713 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.4914C>T (p.Asp1638=) rs750113099 0.00006
NM_004415.4(DSP):c.5463C>T (p.Val1821=) rs961915749 0.00006
NM_004415.4(DSP):c.561C>T (p.Val187=) rs199585428 0.00006
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) rs142927608 0.00006
NM_004415.4(DSP):c.6654C>T (p.Thr2218=) rs727503005 0.00006
NM_004415.4(DSP):c.726+7G>C rs370309952 0.00006
NM_004415.4(DSP):c.729C>T (p.Arg243=) rs141028505 0.00006
NM_004415.4(DSP):c.783G>A (p.Ala261=) rs764596108 0.00006
NM_004415.4(DSP):c.915C>T (p.Ile305=) rs148395326 0.00006
NM_014112.5(TRPS1):c.342G>A (p.Pro114=) rs200131404 0.00006
NM_017838.4(NHP2):c.230+17C>T rs766892858 0.00006
NM_020529.3(NFKBIA):c.156C>A (p.Ile52=) rs369801548 0.00006
NM_020529.3(NFKBIA):c.186C>T (p.Gly62=) rs143798499 0.00006
NM_020529.3(NFKBIA):c.368A>G (p.Gln123Arg) rs142422402 0.00006
NM_020529.3(NFKBIA):c.501C>T (p.Cys167=) rs200219960 0.00006
NM_020779.4(WDR35):c.1098T>C (p.Asn366=) rs780105362 0.00006
NM_020779.4(WDR35):c.2573T>C (p.Val858Ala) rs759587265 0.00006
NM_020779.4(WDR35):c.657C>T (p.Tyr219=) rs768183424 0.00006
NM_022836.4(DCLRE1B):c.771A>G (p.Thr257=) rs768273057 0.00006
NM_024589.3(ROGDI):c.46-11C>T rs368078091 0.00006
NM_024589.3(ROGDI):c.669G>A (p.Ala223=) rs143402543 0.00006
NM_024589.3(ROGDI):c.822+14G>A rs200558978 0.00006
NM_024589.3(ROGDI):c.822+9G>A rs765281930 0.00006
NM_025099.6(CTC1):c.1002C>T (p.Leu334=) rs369276308 0.00006
NM_025099.6(CTC1):c.1366C>T (p.Leu456=) rs529158574 0.00006
NM_025099.6(CTC1):c.2472C>T (p.Pro824=) rs558802130 0.00006
NM_025099.6(CTC1):c.843T>C (p.Tyr281=) rs367935180 0.00006
NM_025216.3(WNT10A):c.402C>T (p.Tyr134=) rs766593230 0.00006
NM_025216.3(WNT10A):c.512G>A (p.Arg171His) rs199737793 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.3603C>T (p.Asp1201=) rs369729210 0.00006
NM_052989.3(IFT122):c.783G>A (p.Gln261=) rs144727222 0.00006
NM_052989.3(IFT122):c.93C>T (p.Ala31=) rs374303835 0.00006
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala) rs202210260 0.00006
NM_147127.5(EVC2):c.1677T>C (p.Ala559=) rs761646676 0.00006
NM_147127.5(EVC2):c.192G>C (p.Pro64=) rs777094897 0.00006
NM_147127.5(EVC2):c.2079C>T (p.Val693=) rs201171209 0.00006
NM_147127.5(EVC2):c.2604C>T (p.Leu868=) rs138672121 0.00006
NM_147127.5(EVC2):c.2829+9A>C rs370232376 0.00006
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00006
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=) rs138166440 0.00006
NM_147127.5(EVC2):c.531G>A (p.Ser177=) rs146658261 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_153717.3(EVC):c.1350G>A (p.Ala450=) rs752575646 0.00006
NM_153717.3(EVC):c.1564-8C>T rs373957181 0.00006
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443 0.00006
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996 0.00006
NM_153717.3(EVC):c.2349C>T (p.Ser783=) rs138114051 0.00006
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.2868C>T (p.Ser956=) rs757526901 0.00006
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104 0.00006
NM_153717.3(EVC):c.588C>T (p.Asn196=) rs756994584 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_198253.3(TERT):c.129C>T (p.Asp43=) rs772537721 0.00006
NM_198253.3(TERT):c.1842C>T (p.Pro614=) rs747157175 0.00006
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys) rs147521473 0.00006
NM_198253.3(TERT):c.2130+20G>A rs375125144 0.00006
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_198253.3(TERT):c.2418C>T (p.Phe806=) rs372497245 0.00006
NM_198253.3(TERT):c.2541C>T (p.Gly847=) rs770543108 0.00006
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_198253.3(TERT):c.2802G>T (p.Leu934=) rs201322872 0.00006
NM_198253.3(TERT):c.2843+16C>T rs375054298 0.00006
NM_198253.3(TERT):c.2843+6C>T rs372086160 0.00006
NM_198253.3(TERT):c.2843+7G>A rs368429405 0.00006
NM_198253.3(TERT):c.3295+11G>A rs372330958 0.00006
NM_198253.3(TERT):c.3369G>A (p.Leu1123=) rs529179931 0.00006
NM_198253.3(TERT):c.810C>T (p.Phe270=) rs369812320 0.00006
NM_198253.3(TERT):c.855G>A (p.Leu285=) rs372185671 0.00006
NM_001283009.2(RTEL1):c.102+10A>G rs201569343 0.00005
NM_001283009.2(RTEL1):c.1752G>A (p.Ala584=) rs113304555 0.00005
NM_001283009.2(RTEL1):c.1863G>A (p.Ala621=) rs553627522 0.00005
NM_001283009.2(RTEL1):c.1879-4C>T rs753381436 0.00005
NM_001283009.2(RTEL1):c.2025+10A>T rs770832240 0.00005
NM_001283009.2(RTEL1):c.2256C>T (p.Ala752=) rs546705390 0.00005
NM_001283009.2(RTEL1):c.2280C>T (p.Ala760=) rs765015936 0.00005
NM_001283009.2(RTEL1):c.2413+9G>A rs980022075 0.00005
NM_001283009.2(RTEL1):c.2637G>A (p.Arg879=) rs1338282928 0.00005
NM_001283009.2(RTEL1):c.2653-17G>A rs199597161 0.00005
NM_001283009.2(RTEL1):c.3110-19C>T rs765873434 0.00005
NM_001283009.2(RTEL1):c.3344-4G>A rs367703929 0.00005
NM_001283009.2(RTEL1):c.3462C>T (p.Ala1154=) rs113188571 0.00005
NM_001283009.2(RTEL1):c.3745G>A (p.Ala1249Thr) rs201237264 0.00005
NM_001283009.2(RTEL1):c.3771C>T (p.Cys1257=) rs368539067 0.00005
NM_001283009.2(RTEL1):c.3823-14C>T rs536966266 0.00005
NM_001283009.2(RTEL1):c.738C>T (p.Val246=) rs569303047 0.00005
NM_001363.5(DKC1):c.1074C>T (p.Cys358=) rs781915787 0.00005
NM_001363.5(DKC1):c.1155+8G>A rs781880461 0.00005
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr) rs782343800 0.00005
NM_001363.5(DKC1):c.267A>C (p.Thr89=) rs782604353 0.00005
NM_001363.5(DKC1):c.847C>A (p.Arg283=) rs782084631 0.00005
NM_004415.4(DSP):c.1983T>C (p.Asn661=) rs770735715 0.00005
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser) rs548695484 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.5555G>A (p.Arg1852His) rs193922669 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.727-10T>G rs375327581 0.00005
NM_004415.4(DSP):c.778-20C>T rs762596346 0.00005
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr) rs376751288 0.00005
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu) rs764232504 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_014112.5(TRPS1):c.1849C>T (p.Pro617Ser) rs369619683 0.00005
NM_014112.5(TRPS1):c.2487T>A (p.Pro829=) rs202162026 0.00005
NM_017838.4(NHP2):c.105G>A (p.Ala35=) rs373176167 0.00005
NM_017838.4(NHP2):c.417C>T (p.Tyr139=) rs567317314 0.00005
NM_020529.3(NFKBIA):c.441C>T (p.Pro147=) rs375015401 0.00005
NM_020529.3(NFKBIA):c.547+18C>T rs373886679 0.00005
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2659-19G>A rs749563049 0.00005
NM_022836.4(DCLRE1B):c.273C>T (p.Thr91=) rs199758910 0.00005
NM_024589.3(ROGDI):c.433-5T>C rs971078433 0.00005
NM_024589.3(ROGDI):c.747C>T (p.Cys249=) rs375794279 0.00005
NM_025099.6(CTC1):c.3426C>T (p.Leu1142=) rs745512137 0.00005
NM_025099.6(CTC1):c.648-9C>T rs779778738 0.00005
NM_025216.3(WNT10A):c.1131C>T (p.Cys377=) rs747307399 0.00005
NM_025216.3(WNT10A):c.551G>A (p.Arg184His) rs372756514 0.00005
NM_052989.3(IFT122):c.228C>T (p.Ser76=) rs772835552 0.00005
NM_052989.3(IFT122):c.3309T>G (p.Thr1103=) rs749601918 0.00005
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=) rs775936679 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_147127.5(EVC2):c.126C>T (p.Leu42=) rs781009014 0.00005
NM_147127.5(EVC2):c.2076C>T (p.Ser692=) rs138556477 0.00005
NM_147127.5(EVC2):c.2157C>T (p.Ala719=) rs777141609 0.00005
NM_147127.5(EVC2):c.2556G>A (p.Arg852=) rs762781823 0.00005
NM_147127.5(EVC2):c.3094C>T (p.Leu1032=) rs777897646 0.00005
NM_147127.5(EVC2):c.669G>A (p.Ser223=) rs143697185 0.00005
NM_147127.5(EVC2):c.707-20_707-19del rs777343377 0.00005
NM_147127.5(EVC2):c.948C>T (p.Ala316=) rs376050796 0.00005
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.1152T>C (p.Phe384=) rs574038265 0.00005
NM_153717.3(EVC):c.1962C>T (p.Asn654=) rs189626383 0.00005
NM_153717.3(EVC):c.2010C>T (p.Leu670=) rs369722491 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_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908 0.00005
NM_198253.3(TERT):c.1769+13C>T rs760246680 0.00005
NM_198253.3(TERT):c.2141C>T (p.Thr714Met) rs772441504 0.00005
NM_198253.3(TERT):c.2169C>T (p.Asp723=) rs368762140 0.00005
NM_198253.3(TERT):c.2283C>T (p.Ser761=) rs370808390 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_198253.3(TERT):c.2970+16G>A rs563777532 0.00005
NM_198253.3(TERT):c.297C>T (p.Phe99=) rs746607875 0.00005
NM_198253.3(TERT):c.3302C>T (p.Thr1101Met) rs764602705 0.00005
NM_198253.3(TERT):c.555G>C (p.Arg185=) rs777633830 0.00005
NC_000016.10:g.67660401G>A rs142762905 0.00004
NC_000016.10:g.67660470G>C rs201685459 0.00004
NM_001082486.2(ACD):c.1207-8C>T rs201192255 0.00004
NM_001082486.2(ACD):c.242+7G>A rs368510441 0.00004
NM_001082486.2(ACD):c.513T>G (p.Leu171=) rs755523137 0.00004
NM_001082486.2(ACD):c.861C>T (p.Ser287=) rs751515020 0.00004
NM_001082486.2(ACD):c.876C>T (p.Thr292=) rs372485172 0.00004
NM_001099274.3(TINF2):c.30A>G (p.Ala10=) rs779819186 0.00004
NM_001099274.3(TINF2):c.315G>A (p.Arg105=) rs773958161 0.00004
NM_001099274.3(TINF2):c.690C>G (p.Pro230=) rs764260132 0.00004
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) rs552794694 0.00004
NM_001099274.3(TINF2):c.819C>T (p.Ala273=) rs376845893 0.00004
NM_001110219.3(GJB6):c.226C>T (p.Leu76=) rs180764573 0.00004
NM_001110219.3(GJB6):c.594G>A (p.Ala198=) rs763870146 0.00004
NM_001283009.2(RTEL1):c.1038-6C>T rs776111372 0.00004
NM_001283009.2(RTEL1):c.1135+14C>T rs780834418 0.00004
NM_001283009.2(RTEL1):c.1140T>C (p.Ala380=) rs1320301703 0.00004
NM_001283009.2(RTEL1):c.1239A>G (p.Ala413=) rs745951995 0.00004
NM_001283009.2(RTEL1):c.1267-9C>T rs755986498 0.00004
NM_001283009.2(RTEL1):c.1443G>A (p.Thr481=) rs762716598 0.00004
NM_001283009.2(RTEL1):c.147G>A (p.Thr49=) rs114124243 0.00004
NM_001283009.2(RTEL1):c.1500G>A (p.Leu500=) rs1229562658 0.00004
NM_001283009.2(RTEL1):c.1636+15T>C rs368333990 0.00004
NM_001283009.2(RTEL1):c.171G>T (p.Leu57=) rs769885188 0.00004
NM_001283009.2(RTEL1):c.1848C>T (p.Gly616=) rs141436916 0.00004
NM_001283009.2(RTEL1):c.2061G>A (p.Ala687=) rs201842671 0.00004
NM_001283009.2(RTEL1):c.2085C>T (p.Ile695=) rs774642602 0.00004
NM_001283009.2(RTEL1):c.2142-15A>G rs762029946 0.00004
NM_001283009.2(RTEL1):c.2151T>C (p.Phe717=) rs751146876 0.00004
NM_001283009.2(RTEL1):c.2414-20G>A rs376268681 0.00004
NM_001283009.2(RTEL1):c.2427C>T (p.Ala809=) rs767770069 0.00004
NM_001283009.2(RTEL1):c.246G>A (p.Pro82=) rs775247678 0.00004
NM_001283009.2(RTEL1):c.2553G>A (p.Glu851=) rs779115892 0.00004
NM_001283009.2(RTEL1):c.2556+14G>A rs1176602345 0.00004
NM_001283009.2(RTEL1):c.2851+13G>A rs368058305 0.00004
NM_001283009.2(RTEL1):c.2976G>A (p.Pro992=) rs373347391 0.00004
NM_001283009.2(RTEL1):c.3109+10T>C rs759931400 0.00004
NM_001283009.2(RTEL1):c.3177C>T (p.Ala1059=) rs539800902 0.00004
NM_001283009.2(RTEL1):c.3513C>T (p.Ser1171=) rs138738109 0.00004
NM_001283009.2(RTEL1):c.3522C>T (p.Thr1174=) rs200086502 0.00004
NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=) rs774018403 0.00004
NM_001283009.2(RTEL1):c.3840A>G (p.Pro1280=) rs759916800 0.00004
NM_001283009.2(RTEL1):c.750C>T (p.Asp250=) rs777405867 0.00004
NM_001283009.2(RTEL1):c.903G>A (p.Ala301=) rs377191081 0.00004
NM_001283009.2(RTEL1):c.954G>A (p.Leu318=) rs780262316 0.00004
NM_001283009.2(RTEL1):c.987C>T (p.Ile329=) rs763882822 0.00004
NM_001363.5(DKC1):c.1339-5C>T rs781901933 0.00004
NM_001363.5(DKC1):c.263+17G>A rs371006539 0.00004
NM_001363.5(DKC1):c.55C>T (p.Arg19Trp) rs782010351 0.00004
NM_001399.5(EDA):c.1080C>T (p.Ile360=) rs375844339 0.00004
NM_001399.5(EDA):c.1137C>T (p.Phe379=) rs780582849 0.00004
NM_001399.5(EDA):c.707-9A>G rs369843699 0.00004
NM_001399.5(EDA):c.804T>C (p.Gly268=) rs779193585 0.00004
NM_001399.5(EDA):c.808G>A (p.Val270Met) rs748191518 0.00004
NM_001814.6(CTSC):c.195G>T (p.Val65=) rs776362819 0.00004
NM_001814.6(CTSC):c.395G>A (p.Arg132Gln) rs575727793 0.00004
NM_002448.3(MSX1):c.108C>A (p.Ala36=) rs547137864 0.00004
NM_002582.4(PARN):c.1081+17G>A rs772169396 0.00004
NM_002582.4(PARN):c.1082-9T>C rs750247475 0.00004
NM_002582.4(PARN):c.1101A>G (p.Pro367=) rs199737339 0.00004
NM_002582.4(PARN):c.245+15C>T rs372872068 0.00004
NM_002582.4(PARN):c.327+10A>G rs773687682 0.00004
NM_002582.4(PARN):c.327+7A>C rs1376159353 0.00004
NM_002582.4(PARN):c.554+16A>G rs757429918 0.00004
NM_002582.4(PARN):c.659+19T>C rs989916354 0.00004
NM_002582.4(PARN):c.877G>A (p.Val293Ile) rs758441481 0.00004
NM_002582.4(PARN):c.918+18C>T rs751944132 0.00004
NM_004415.4(DSP):c.1005A>G (p.Gln335=) rs200961741 0.00004
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.1443G>A (p.Glu481=) rs149126992 0.00004
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.1963A>T (p.Ile655Phe) rs148868379 0.00004
NM_004415.4(DSP):c.2308G>A (p.Val770Ile) rs1225927424 0.00004
NM_004415.4(DSP):c.2317C>T (p.Leu773=) rs767433534 0.00004
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys) rs778350289 0.00004
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479 0.00004
NM_004415.4(DSP):c.2631-5C>T rs773772683 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.2735T>C (p.Leu912Ser) rs765831604 0.00004
NM_004415.4(DSP):c.2796C>T (p.Asn932=) rs368981849 0.00004
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr) rs397516928 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.4752G>A (p.Ala1584=) rs201213622 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.5522C>T (p.Ser1841Leu) rs397516947 0.00004
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys) rs550818559 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.598-4G>A rs747448946 0.00004
NM_004415.4(DSP):c.6240C>T (p.Phe2080=) rs757650857 0.00004
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe) rs549451471 0.00004
NM_004415.4(DSP):c.7035A>G (p.Gly2345=) rs780379988 0.00004
NM_004415.4(DSP):c.7128G>T (p.Gly2376=) rs756684406 0.00004
NM_004415.4(DSP):c.7332G>T (p.Leu2444=) rs1330371919 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.8229G>A (p.Gly2743=) rs1060503979 0.00004
NM_004415.4(DSP):c.8259G>A (p.Lys2753=) rs1005570207 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_014112.5(TRPS1):c.3399C>T (p.Ser1133=) rs369411533 0.00004
NM_018648.4(NOP10):c.24C>T (p.Asn8=) rs756047969 0.00004
NM_018648.4(NOP10):c.51G>C (p.Leu17=) rs761222362 0.00004
NM_020529.3(NFKBIA):c.885_896del (p.Phe295_Thr299delinsLeu) rs751513869 0.00004
NM_020529.3(NFKBIA):c.888G>A (p.Thr296=) rs139180460 0.00004
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) rs536150588 0.00004
NM_020779.4(WDR35):c.143-4T>C rs1180620404 0.00004
NM_020779.4(WDR35):c.2592A>G (p.Ala864=) rs750654551 0.00004
NM_020779.4(WDR35):c.2877C>G (p.Leu959=) rs139447814 0.00004
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His) rs200760434 0.00004
NM_020779.4(WDR35):c.798C>T (p.Ser266=) rs141118263 0.00004
NM_022336.4(EDAR):c.463G>A (p.Ala155Thr) rs370972367 0.00004
NM_022836.4(DCLRE1B):c.15G>C (p.Leu5=) rs746144334 0.00004
NM_022836.4(DCLRE1B):c.430C>T (p.Leu144=) rs774530909 0.00004
NM_024589.3(ROGDI):c.175G>A (p.Glu59Lys) rs2305659 0.00004
NM_024589.3(ROGDI):c.201-15C>T rs369198714 0.00004
NM_024589.3(ROGDI):c.441C>T (p.Asp147=) rs777109541 0.00004
NM_024589.3(ROGDI):c.46-12T>A rs975146129 0.00004
NM_024589.3(ROGDI):c.555G>C (p.Pro185=) rs771793763 0.00004
NM_024589.3(ROGDI):c.714C>T (p.Arg238=) rs767322805 0.00004
NM_024589.3(ROGDI):c.729C>T (p.His243=) rs1232041975 0.00004
NM_024589.3(ROGDI):c.823-8C>T rs374259109 0.00004
NM_024589.3(ROGDI):c.828C>T (p.Ser276=) rs767023578 0.00004
NM_025099.6(CTC1):c.1107C>T (p.Pro369=) rs576049782 0.00004
NM_025099.6(CTC1):c.1293T>C (p.Leu431=) rs764709117 0.00004
NM_025099.6(CTC1):c.1359C>T (p.Tyr453=) rs371189165 0.00004
NM_025099.6(CTC1):c.1542A>G (p.Leu514=) rs369802087 0.00004
NM_025099.6(CTC1):c.197+13G>A rs377444887 0.00004
NM_025099.6(CTC1):c.2061-6C>T rs370503002 0.00004
NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser) rs771475755 0.00004
NM_025099.6(CTC1):c.258G>A (p.Ser86=) rs369789111 0.00004
NM_025099.6(CTC1):c.2783G>T (p.Cys928Phe) rs373660155 0.00004
NM_025099.6(CTC1):c.3222-4A>G rs562479062 0.00004
NM_025099.6(CTC1):c.3514+18G>A rs770137845 0.00004
NM_025099.6(CTC1):c.630C>G (p.Ser210=) rs750601480 0.00004
NM_025216.3(WNT10A):c.1005C>T (p.Asp335=) rs779449131 0.00004
NM_025216.3(WNT10A):c.1134C>T (p.Gly378=) rs886055644 0.00004
NM_025216.3(WNT10A):c.282C>T (p.His94=) rs752237331 0.00004
NM_025216.3(WNT10A):c.498C>T (p.Asp166=) rs143463683 0.00004
NM_025216.3(WNT10A):c.576C>T (p.Val192=) rs759379609 0.00004
NM_025216.3(WNT10A):c.648C>T (p.Pro216=) rs748375898 0.00004
NM_025216.3(WNT10A):c.720G>A (p.Ala240=) rs749960537 0.00004
NM_025216.3(WNT10A):c.801G>C (p.Thr267=) rs553058408 0.00004
NM_052989.3(IFT122):c.2650+12A>G rs777744869 0.00004
NM_052989.3(IFT122):c.273-260T>C rs369997431 0.00004
NM_052989.3(IFT122):c.2895G>A (p.Pro965=) rs771092154 0.00004
NM_052989.3(IFT122):c.2904C>T (p.Val968=) rs140575442 0.00004
NM_052989.3(IFT122):c.2988-6C>T rs749670705 0.00004
NM_052989.3(IFT122):c.3267C>T (p.Asp1089=) rs759436069 0.00004
NM_052989.3(IFT122):c.3333C>T (p.Ile1111=) rs991750889 0.00004
NM_052989.3(IFT122):c.563+7T>C rs371311619 0.00004
NM_052989.3(IFT122):c.849C>T (p.Pro283=) rs771115196 0.00004
NM_147127.5(EVC2):c.1122G>A (p.Gly374=) rs780172151 0.00004
NM_147127.5(EVC2):c.1530G>A (p.Leu510=) rs750953517 0.00004
NM_147127.5(EVC2):c.2247C>T (p.Asp749=) rs748420448 0.00004
NM_147127.5(EVC2):c.2397C>T (p.Asp799=) rs372782913 0.00004
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912 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.3048G>A (p.Ser1016=) rs182310332 0.00004
NM_147127.5(EVC2):c.3058-4G>A rs1490949079 0.00004
NM_147127.5(EVC2):c.30C>T (p.Pro10=) rs1193570001 0.00004
NM_147127.5(EVC2):c.3156C>T (p.Ala1052=) rs770163191 0.00004
NM_147127.5(EVC2):c.3165C>T (p.Pro1055=) rs756880962 0.00004
NM_147127.5(EVC2):c.3192G>A (p.Val1064=) rs755786659 0.00004
NM_147127.5(EVC2):c.3405C>T (p.Pro1135=) rs776832054 0.00004
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=) rs370368827 0.00004
NM_147127.5(EVC2):c.3825C>T (p.Phe1275=) rs772566880 0.00004
NM_147127.5(EVC2):c.576C>G (p.Thr192=) rs764691234 0.00004
NM_147127.5(EVC2):c.732C>T (p.Tyr244=) rs765159349 0.00004
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867 0.00004
NM_153717.3(EVC):c.219G>A (p.Ala73=) rs759816860 0.00004
NM_153717.3(EVC):c.2305-6C>T rs781705295 0.00004
NM_153717.3(EVC):c.2412C>T (p.His804=) rs553232598 0.00004
NM_153717.3(EVC):c.279G>A (p.Ser93=) rs373072919 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_153717.3(EVC):c.867T>G (p.Gly289=) rs758866277 0.00004
NM_153717.3(EVC):c.906G>A (p.Lys302=) rs368231289 0.00004
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser) rs551522837 0.00004
NM_198253.3(TERT):c.1829G>A (p.Arg610Gln) rs776763536 0.00004
NM_198253.3(TERT):c.2009C>T (p.Ala670Val) rs767382450 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.2286+11C>T rs765739078 0.00004
NM_198253.3(TERT):c.2313G>A (p.Pro771=) rs199770141 0.00004
NM_198253.3(TERT):c.2328C>T (p.Phe776=) rs748248614 0.00004
NM_198253.3(TERT):c.2469-9C>T rs764029536 0.00004
NM_198253.3(TERT):c.2580C>T (p.Asp860=) rs751752830 0.00004
NM_198253.3(TERT):c.2582+20del rs766810802 0.00004
NM_198253.3(TERT):c.2652C>T (p.Leu884=) rs374309472 0.00004
NM_198253.3(TERT):c.2733C>T (p.Asp911=) rs768646695 0.00004
NM_198253.3(TERT):c.2764A>T (p.Met922Leu) rs554229004 0.00004
NM_198253.3(TERT):c.2793C>T (p.Cys931=) rs764925909 0.00004
NM_198253.3(TERT):c.2946T>C (p.Cys982=) rs201689770 0.00004
NM_198253.3(TERT):c.3032+19G>A rs771262935 0.00004
NM_198253.3(TERT):c.3089C>G (p.Thr1030Arg) rs377419542 0.00004
NM_198253.3(TERT):c.3117G>A (p.Thr1039=) rs773595628 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.3180C>T (p.Gly1060=) rs202166769 0.00004
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) rs376255453 0.00004
NM_198253.3(TERT):c.553C>T (p.Arg185Trp) rs770436206 0.00004
NC_000016.10:g.67660452G>A rs780167082 0.00003
NM_001082486.2(ACD):c.1017C>T (p.Ser339=) rs769298187 0.00003
NM_001082486.2(ACD):c.1269G>A (p.Thr423=) rs751284994 0.00003
NM_001082486.2(ACD):c.242+13dup rs774149870 0.00003
NM_001082486.2(ACD):c.255G>A (p.Glu85=) rs146942923 0.00003
NM_001082486.2(ACD):c.337-14C>T rs765992071 0.00003
NM_001082486.2(ACD):c.829+11G>A rs778449742 0.00003
NM_001082486.2(ACD):c.891G>A (p.Leu297=) rs1459307216 0.00003
NM_001099274.3(TINF2):c.1297G>C (p.Gly433Arg) rs763867083 0.00003
NM_001099274.3(TINF2):c.1299C>G (p.Gly433=) rs755970077 0.00003
NM_001099274.3(TINF2):c.159C>T (p.His53=) rs370875792 0.00003
NM_001099274.3(TINF2):c.210C>T (p.Ile70=) rs749135301 0.00003
NM_001099274.3(TINF2):c.504G>A (p.Gln168=) rs764829839 0.00003
NM_001099274.3(TINF2):c.51G>C (p.Ala17=) rs757222975 0.00003
NM_001099274.3(TINF2):c.912G>A (p.Glu304=) rs776136324 0.00003
NM_001283009.2(RTEL1):c.103-13G>A rs183862736 0.00003
NM_001283009.2(RTEL1):c.1038-18C>T rs1555903293 0.00003
NM_001283009.2(RTEL1):c.1188C>A (p.Ile396=) rs766857757 0.00003
NM_001283009.2(RTEL1):c.1215C>T (p.Ser405=) rs368407107 0.00003
NM_001283009.2(RTEL1):c.1236A>G (p.Pro412=) rs914576910 0.00003
NM_001283009.2(RTEL1):c.1407C>G (p.Arg469=) rs1466628519 0.00003
NM_001283009.2(RTEL1):c.1452G>A (p.Pro484=) rs201307924 0.00003
NM_001283009.2(RTEL1):c.1482-13T>C rs201072205 0.00003
NM_001283009.2(RTEL1):c.1545C>T (p.Val515=) rs777040365 0.00003
NM_001283009.2(RTEL1):c.1637-18C>T rs774306865 0.00003
NM_001283009.2(RTEL1):c.168G>A (p.Thr56=) rs776722400 0.00003
NM_001283009.2(RTEL1):c.1908G>A (p.Thr636=) rs779437642 0.00003
NM_001283009.2(RTEL1):c.2026-15C>T rs767991978 0.00003
NM_001283009.2(RTEL1):c.2145C>T (p.Phe715=) rs762607146 0.00003
NM_001283009.2(RTEL1):c.2343C>T (p.Gly781=) rs766185797 0.00003
NM_001283009.2(RTEL1):c.2851+9G>C rs778092060 0.00003
NM_001283009.2(RTEL1):c.3109+19G>A rs369417111 0.00003
NM_001283009.2(RTEL1):c.3109+9C>T rs376840588 0.00003
NM_001283009.2(RTEL1):c.3219C>T (p.Ser1073=) rs376151757 0.00003
NM_001283009.2(RTEL1):c.3549C>T (p.Ser1183=) rs775274392 0.00003
NM_001283009.2(RTEL1):c.3588C>T (p.Gly1196=) rs757618919 0.00003
NM_001283009.2(RTEL1):c.3849C>T (p.His1283=) rs772636396 0.00003
NM_001283009.2(RTEL1):c.3852C>T (p.Thr1284=) rs149236681 0.00003
NM_001283009.2(RTEL1):c.3885C>T (p.Phe1295=) rs756251493 0.00003
NM_001283009.2(RTEL1):c.396-12C>G rs749705949 0.00003
NM_001283009.2(RTEL1):c.396-19C>T rs767850154 0.00003
NM_001283009.2(RTEL1):c.396-27T>C rs774523585 0.00003
NM_001283009.2(RTEL1):c.462G>A (p.Glu154=) rs766637626 0.00003
NM_001363.5(DKC1):c.1305G>A (p.Pro435=) rs189466923 0.00003
NM_001363.5(DKC1):c.1503G>A (p.Lys501=) rs782072048 0.00003
NM_001363.5(DKC1):c.172-13C>T rs782236324 0.00003
NM_001363.5(DKC1):c.357G>A (p.Gly119=) rs1161452912 0.00003
NM_001363.5(DKC1):c.487A>G (p.Ile163Val) rs782159247 0.00003
NM_001363.5(DKC1):c.85-5C>T rs782381308 0.00003
NM_001363.5(DKC1):c.93A>G (p.Gln31=) rs782094431 0.00003
NM_001363.5(DKC1):c.993G>A (p.Gln331=) rs1407582382 0.00003
NM_001399.5(EDA):c.111G>A (p.Gly37=) rs1301485954 0.00003
NM_001399.5(EDA):c.1168G>A (p.Ala390Thr) rs746523921 0.00003
NM_001399.5(EDA):c.242C>T (p.Ser81Leu) rs780456712 0.00003
NM_001399.5(EDA):c.345A>G (p.Pro115=) rs775366784 0.00003
NM_001399.5(EDA):c.371A>G (p.His124Arg) rs751470511 0.00003
NM_001399.5(EDA):c.503-8T>C rs752434802 0.00003
NM_001399.5(EDA):c.56A>C (p.Glu19Ala) rs752730106 0.00003
NM_001814.6(CTSC):c.768C>T (p.Gly256=) rs776824336 0.00003
NM_001814.6(CTSC):c.90C>T (p.Cys30=) rs202160994 0.00003
NM_002448.3(MSX1):c.458C>A (p.Pro153Gln) rs104893854 0.00003
NM_002582.4(PARN):c.1193-4T>C rs913658784 0.00003
NM_002582.4(PARN):c.1347T>C (p.His449=) rs772723061 0.00003
NM_002582.4(PARN):c.1527T>C (p.Tyr509=) rs752381488 0.00003
NM_002582.4(PARN):c.178-9C>A rs779459015 0.00003
NM_002582.4(PARN):c.1791T>C (p.Cys597=) rs751632900 0.00003
NM_002582.4(PARN):c.1800C>G (p.Pro600=) rs766731547 0.00003
NM_002582.4(PARN):c.245+19C>T rs762440317 0.00003
NM_002582.4(PARN):c.27G>A (p.Lys9=) rs746897251 0.00003
NM_002582.4(PARN):c.411A>G (p.Glu137=) rs368804005 0.00003
NM_002582.4(PARN):c.459G>A (p.Ala153=) rs960463679 0.00003
NM_002582.4(PARN):c.540T>C (p.Phe180=) rs375818973 0.00003
NM_004415.4(DSP):c.1045-8T>C rs201633815 0.00003
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578 0.00003
NM_004415.4(DSP):c.1254C>G (p.Ile418Met) rs752264359 0.00003
NM_004415.4(DSP):c.1267-14A>T rs374439921 0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala) rs755492444 0.00003
NM_004415.4(DSP):c.1420-15T>C rs569955363 0.00003
NM_004415.4(DSP):c.1487C>T (p.Thr496Met) rs374283517 0.00003
NM_004415.4(DSP):c.1501G>A (p.Val501Ile) rs368778031 0.00003
NM_004415.4(DSP):c.1512T>C (p.Leu504=) rs537526794 0.00003
NM_004415.4(DSP):c.1557C>T (p.Ala519=) rs769629611 0.00003
NM_004415.4(DSP):c.1630A>C (p.Met544Leu) rs201960323 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.1904-12T>G rs750869804 0.00003
NM_004415.4(DSP):c.1904-17C>G rs370715047 0.00003
NM_004415.4(DSP):c.201C>T (p.Asn67=) rs774432635 0.00003
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys) rs775181391 0.00003
NM_004415.4(DSP):c.2052C>A (p.Gly684=) rs760191477 0.00003
NM_004415.4(DSP):c.2310A>C (p.Val770=) rs762909119 0.00003
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly) rs557966264 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.2722C>T (p.Arg908Cys) rs376932045 0.00003
NM_004415.4(DSP):c.3015A>G (p.Glu1005=) rs397516930 0.00003
NM_004415.4(DSP):c.3231G>A (p.Ala1077=) rs368214030 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.363C>T (p.Leu121=) rs748204541 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_004415.4(DSP):c.3651G>A (p.Thr1217=) rs1057522191 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.4041A>G (p.Glu1347=) rs200671552 0.00003
NM_004415.4(DSP):c.4077C>T (p.Ile1359=) rs747249306 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.4373G>A (p.Arg1458Gln) rs370063434 0.00003
NM_004415.4(DSP):c.4377A>G (p.Thr1459=) rs771910118 0.00003
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile) rs948230523 0.00003
NM_004415.4(DSP):c.4540C>T (p.Leu1514=) rs754783192 0.00003
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val) rs145796901 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 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.5154G>A (p.Leu1718=) rs376620183 0.00003
NM_004415.4(DSP):c.5223G>A (p.Ala1741=) rs201984474 0.00003
NM_004415.4(DSP):c.5414G>A (p.Cys1805Tyr) rs768161038 0.00003
NM_004415.4(DSP):c.55C>A (p.Arg19Ser) rs777340009 0.00003
NM_004415.4(DSP):c.5865T>C (p.Thr1955=) rs1306745746 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.6368G>A (p.Arg2123His) rs142272846 0.00003
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser) rs765687440 0.00003
NM_004415.4(DSP):c.6496C>A (p.Arg2166=) rs141026028 0.00003
NM_004415.4(DSP):c.665G>A (p.Arg222Gln) rs377749481 0.00003
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala) rs886061748 0.00003
NM_004415.4(DSP):c.7014G>C (p.Gly2338=) rs1054965369 0.00003
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val) rs768837509 0.00003
NM_004415.4(DSP):c.7569G>A (p.Lys2523=) rs1230846776 0.00003
NM_004415.4(DSP):c.7653C>T (p.Ser2551=) rs746983874 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.837G>A (p.Thr279=) rs368051840 0.00003
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987 0.00003
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575 0.00003
NM_014112.5(TRPS1):c.1541G>T (p.Ser514Ile) rs558232936 0.00003
NM_014112.5(TRPS1):c.1743C>G (p.Pro581=) rs886043582 0.00003
NM_014112.5(TRPS1):c.1843T>C (p.Leu615=) rs372922863 0.00003
NM_014112.5(TRPS1):c.2465C>G (p.Ala822Gly) rs777464547 0.00003
NM_014112.5(TRPS1):c.3148A>T (p.Ile1050Phe) rs181035264 0.00003
NM_014112.5(TRPS1):c.3477C>T (p.Thr1159=) rs565639429 0.00003
NM_014112.5(TRPS1):c.565G>A (p.Gly189Ser) rs780885595 0.00003
NM_017838.4(NHP2):c.336+12G>A rs202050768 0.00003
NM_020529.3(NFKBIA):c.547+10C>T rs201614038 0.00003
NM_020529.3(NFKBIA):c.627C>T (p.Val209=) rs778172206 0.00003
NM_020529.3(NFKBIA):c.876G>A (p.Glu292=) rs772607545 0.00003
NM_020779.4(WDR35):c.1113A>G (p.Lys371=) rs778831561 0.00003
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) rs573958749 0.00003
NM_020779.4(WDR35):c.2326C>T (p.Leu776=) rs772138388 0.00003
NM_020779.4(WDR35):c.3363-15C>T rs763500770 0.00003
NM_024589.3(ROGDI):c.187C>T (p.Leu63=) rs372790777 0.00003
NM_024589.3(ROGDI):c.46-5C>T rs540065993 0.00003
NM_024589.3(ROGDI):c.501C>T (p.Thr167=) rs200727029 0.00003
NM_024589.3(ROGDI):c.531+10C>T rs201876912 0.00003
NM_024589.3(ROGDI):c.588C>T (p.Leu196=) rs766970849 0.00003
NM_024589.3(ROGDI):c.621T>C (p.His207=) rs923393796 0.00003
NM_025099.6(CTC1):c.1078-14C>T rs778409864 0.00003
NM_025099.6(CTC1):c.1284C>T (p.Ala428=) rs751503167 0.00003
NM_025099.6(CTC1):c.1344C>T (p.Tyr448=) rs758414171 0.00003
NM_025099.6(CTC1):c.2049G>A (p.Lys683=) rs1224287906 0.00003
NM_025099.6(CTC1):c.2060+8C>T rs774720707 0.00003
NM_025099.6(CTC1):c.2244C>T (p.Val748=) rs758516017 0.00003
NM_025099.6(CTC1):c.2352C>T (p.Pro784=) rs372436060 0.00003
NM_025099.6(CTC1):c.2370C>T (p.Asp790=) rs765241138 0.00003
NM_025099.6(CTC1):c.2385+19G>A rs766195246 0.00003
NM_025099.6(CTC1):c.24C>T (p.Val8=) rs749818659 0.00003
NM_025099.6(CTC1):c.2670-7C>T rs750034989 0.00003
NM_025099.6(CTC1):c.2721A>C (p.Leu907=) rs776568637 0.00003
NM_025099.6(CTC1):c.2799C>A (p.Val933=) rs756487472 0.00003
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=) rs760547081 0.00003
NM_025099.6(CTC1):c.647+16A>G rs761287304 0.00003
NM_025099.6(CTC1):c.6G>A (p.Ala2=) rs777656768 0.00003
NM_025216.3(WNT10A):c.420C>T (p.Gly140=) rs148979463 0.00003
NM_025216.3(WNT10A):c.738C>T (p.Asn246=) rs777801883 0.00003
NM_052989.3(IFT122):c.1488+10C>T rs766274915 0.00003
NM_052989.3(IFT122):c.1503C>T (p.Phe501=) rs113871672 0.00003
NM_052989.3(IFT122):c.1526T>C (p.Val509Ala) rs191420441 0.00003
NM_052989.3(IFT122):c.2736T>C (p.Asn912=) rs752961918 0.00003
NM_052989.3(IFT122):c.3087C>A (p.Ala1029=) rs777602970 0.00003
NM_052989.3(IFT122):c.3144C>T (p.His1048=) rs777717739 0.00003
NM_052989.3(IFT122):c.564-15A>G rs919325670 0.00003
NM_052989.3(IFT122):c.669C>T (p.Tyr223=) rs139008392 0.00003
NM_052989.3(IFT122):c.732C>T (p.Asp244=) rs202074599 0.00003
NM_052989.3(IFT122):c.978G>A (p.Thr326=) rs781409395 0.00003
NM_147127.5(EVC2):c.1887-6A>G rs772186122 0.00003
NM_147127.5(EVC2):c.2160C>G (p.Thr720=) rs749380539 0.00003
NM_147127.5(EVC2):c.2451C>T (p.Ala817=) rs377709998 0.00003
NM_147127.5(EVC2):c.2501+20G>A rs371570790 0.00003
NM_147127.5(EVC2):c.2571C>A (p.Gly857=) rs533262793 0.00003
NM_147127.5(EVC2):c.2994G>A (p.Glu998=) rs769447158 0.00003
NM_147127.5(EVC2):c.3272+16C>T rs200378678 0.00003
NM_147127.5(EVC2):c.3660-10A>G rs371900491 0.00003
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=) rs774269538 0.00003
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=) rs921952317 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_147127.5(EVC2):c.888C>T (p.Gly296=) rs370515818 0.00003
NM_147127.5(EVC2):c.93C>T (p.Leu31=) rs1217842109 0.00003
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 0.00003
NM_153717.3(EVC):c.1206C>T (p.His402=) rs756589627 0.00003
NM_153717.3(EVC):c.1349C>T (p.Ala450Val) rs749008952 0.00003
NM_153717.3(EVC):c.1377G>A (p.Thr459=) rs138725840 0.00003
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088 0.00003
NM_153717.3(EVC):c.1563+11T>A rs1014470434 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.1798C>T (p.Leu600=) rs750023994 0.00003
NM_153717.3(EVC):c.180C>T (p.Asp60=) rs755788871 0.00003
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192 0.00003
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.231G>A (p.Ser77=) rs140615894 0.00003
NM_153717.3(EVC):c.2457G>A (p.Arg819=) rs1243308266 0.00003
NM_153717.3(EVC):c.2529C>T (p.Gly843=) rs377066936 0.00003
NM_153717.3(EVC):c.2535T>C (p.His845=) rs773156946 0.00003
NM_153717.3(EVC):c.2649C>T (p.Val883=) rs1483799016 0.00003
NM_198253.3(TERT):c.1176G>C (p.Leu392=) rs1233765307 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.1449C>T (p.Asn483=) rs761174773 0.00003
NM_198253.3(TERT):c.1465A>C (p.Arg489=) rs201990815 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.1770-11C>G rs747085187 0.00003
NM_198253.3(TERT):c.1887G>A (p.Gly629=) rs764318596 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_198253.3(TERT):c.1951-5G>A rs770214413 0.00003
NM_198253.3(TERT):c.1957C>T (p.Arg653Cys) rs372272356 0.00003
NM_198253.3(TERT):c.2010G>A (p.Ala670=) rs759843505 0.00003
NM_198253.3(TERT):c.2012G>A (p.Arg671Gln) rs774381540 0.00003
NM_198253.3(TERT):c.2052C>T (p.Asp684=) rs768948796 0.00003
NM_198253.3(TERT):c.2131-17C>T rs373383991 0.00003
NM_198253.3(TERT):c.2145C>T (p.Gly715=) rs769467251 0.00003
NM_198253.3(TERT):c.2154C>T (p.Asp718=) rs377437136 0.00003
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_198253.3(TERT):c.2221G>T (p.Val741Leu) rs150819225 0.00003
NM_198253.3(TERT):c.2235C>T (p.Ala745=) rs777869512 0.00003
NM_198253.3(TERT):c.2262C>T (p.His754=) rs778622091 0.00003
NM_198253.3(TERT):c.2301A>G (p.Thr767=) rs374592280 0.00003
NM_198253.3(TERT):c.2432G>A (p.Arg811His) rs552708120 0.00003
NM_198253.3(TERT):c.2449G>A (p.Ala817Thr) rs778051907 0.00003
NM_198253.3(TERT):c.2468+16A>G rs765076864 0.00003
NM_198253.3(TERT):c.2496G>A (p.Pro832=) rs763470933 0.00003
NM_198253.3(TERT):c.2583-7A>G rs1060504796 0.00003
NM_198253.3(TERT):c.2643A>G (p.Lys881=) rs375558251 0.00003
NM_198253.3(TERT):c.2751G>A (p.Thr917=) rs375200599 0.00003
NM_198253.3(TERT):c.2971-10G>T rs878855303 0.00003
NM_198253.3(TERT):c.3033-13G>A rs746630679 0.00003
NM_198253.3(TERT):c.3116C>T (p.Thr1039Met) rs763381198 0.00003
NM_198253.3(TERT):c.3153C>T (p.Asn1051=) rs771025266 0.00003
NM_198253.3(TERT):c.3157+15C>T rs1291819720 0.00003
NM_198253.3(TERT):c.3201C>T (p.Ser1067=) rs755223754 0.00003
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=) rs759883263 0.00003
NM_198253.3(TERT):c.3276C>T (p.Leu1092=) rs368551449 0.00003
NM_198253.3(TERT):c.618C>T (p.Ser206=) rs759142412 0.00003
NM_198253.3(TERT):c.751G>A (p.Val251Ile) rs776569822 0.00003
NM_198253.3(TERT):c.816G>A (p.Val272=) rs765999804 0.00003
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198253.3(TERT):c.976G>A (p.Ala326Thr) rs1030156757 0.00003
NC_000016.10:g.67660377T>G rs773306733 0.00002
NC_000016.10:g.67660395A>G rs753040978 0.00002
NM_000165.5(GJA1):c.1065A>G (p.Pro355=) rs1260325021 0.00002
NM_000165.5(GJA1):c.120G>A (p.Ala40=) rs1265524797 0.00002
NM_000165.5(GJA1):c.624C>T (p.Ile208=) rs530633057 0.00002
NM_000165.5(GJA1):c.885T>C (p.Asn295=) rs370436837 0.00002
NM_001082486.2(ACD):c.1314C>T (p.Leu438=) rs528476326 0.00002
NM_001082486.2(ACD):c.1320C>T (p.Ala440=) rs765091780 0.00002
NM_001082486.2(ACD):c.159C>T (p.Asp53=) rs761226246 0.00002
NM_001082486.2(ACD):c.413+9T>C rs774274068 0.00002
NM_001082486.2(ACD):c.459-18G>A rs1449515028 0.00002
NM_001082486.2(ACD):c.609T>C (p.Pro203=) rs752926001 0.00002
NM_001082486.2(ACD):c.642C>T (p.Ala214=) rs375866577 0.00002
NM_001082486.2(ACD):c.743-14C>T rs781614614 0.00002
NM_001082486.2(ACD):c.743-17C>T rs746257998 0.00002
NM_001082486.2(ACD):c.99+20C>T rs751731124 0.00002
NM_001099274.3(TINF2):c.1130-10C>T rs762697610 0.00002
NM_001099274.3(TINF2):c.399+12T>C rs1261166783 0.00002
NM_001099274.3(TINF2):c.411A>G (p.Gln137=) rs1180442127 0.00002
NM_001099274.3(TINF2):c.507+14A>G rs888526948 0.00002
NM_001099274.3(TINF2):c.861G>C (p.Leu287=) rs770236773 0.00002
NM_001099274.3(TINF2):c.879C>T (p.Leu293=) rs1475173024 0.00002
NM_001099274.3(TINF2):c.960A>C (p.Thr320=) rs1002974518 0.00002
NM_001283009.2(RTEL1):c.103-7C>T rs746078784 0.00002
NM_001283009.2(RTEL1):c.1032A>G (p.Pro344=) rs771559773 0.00002
NM_001283009.2(RTEL1):c.1266+15C>T rs749890574 0.00002
NM_001283009.2(RTEL1):c.1267-6C>T rs779075624 0.00002
NM_001283009.2(RTEL1):c.1413C>T (p.Gly471=) rs373058034 0.00002
NM_001283009.2(RTEL1):c.1636+10C>T rs915525803 0.00002
NM_001283009.2(RTEL1):c.1659C>A (p.Pro553=) rs758544821 0.00002
NM_001283009.2(RTEL1):c.1722+11C>T rs996447070 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.1845C>T (p.Thr615=) rs747169885 0.00002
NM_001283009.2(RTEL1):c.1896C>T (p.Asp632=) rs201130278 0.00002
NM_001283009.2(RTEL1):c.1971C>T (p.Val657=) rs778883996 0.00002
NM_001283009.2(RTEL1):c.2115C>T (p.Tyr705=) rs756940973 0.00002
NM_001283009.2(RTEL1):c.2141+12C>T rs768285604 0.00002
NM_001283009.2(RTEL1):c.2154C>T (p.Ala718=) rs149899386 0.00002
NM_001283009.2(RTEL1):c.219C>T (p.Ala73=) rs781340943 0.00002
NM_001283009.2(RTEL1):c.2557-14T>C rs767407237 0.00002
NM_001283009.2(RTEL1):c.2559C>T (p.Ala853=) rs758448983 0.00002
NM_001283009.2(RTEL1):c.2601G>A (p.Pro867=) rs201545339 0.00002
NM_001283009.2(RTEL1):c.2652+10C>T rs200550037 0.00002
NM_001283009.2(RTEL1):c.2679G>A (p.Thr893=) rs754389601 0.00002
NM_001283009.2(RTEL1):c.2811C>T (p.Pro937=) rs1181105745 0.00002
NM_001283009.2(RTEL1):c.2852-15C>T rs756533094 0.00002
NM_001283009.2(RTEL1):c.2988C>T (p.Pro996=) rs150932919 0.00002
NM_001283009.2(RTEL1):c.2993-14C>A rs764487111 0.00002
NM_001283009.2(RTEL1):c.3018G>T (p.Leu1006=) rs374853062 0.00002
NM_001283009.2(RTEL1):c.3030G>A (p.Thr1010=) rs6011036 0.00002
NM_001283009.2(RTEL1):c.30C>T (p.Thr10=) rs746437645 0.00002
NM_001283009.2(RTEL1):c.3102C>T (p.Pro1034=) rs201356718 0.00002
NM_001283009.2(RTEL1):c.3270C>T (p.Asp1090=) rs115613958 0.00002
NM_001283009.2(RTEL1):c.3300C>T (p.Ala1100=) rs530713870 0.00002
NM_001283009.2(RTEL1):c.3344-16T>C rs763563694 0.00002
NM_001283009.2(RTEL1):c.3345G>A (p.Arg1115=) rs752407024 0.00002
NM_001283009.2(RTEL1):c.3408C>T (p.Thr1136=) rs752386852 0.00002
NM_001283009.2(RTEL1):c.3438G>A (p.Pro1146=) rs770920450 0.00002
NM_001283009.2(RTEL1):c.3708G>A (p.Gly1236=) rs754318726 0.00002
NM_001283009.2(RTEL1):c.3729G>T (p.Val1243=) rs370084961 0.00002
NM_001283009.2(RTEL1):c.3855C>T (p.Ala1285=) rs763834904 0.00002
NM_001283009.2(RTEL1):c.477+8C>T rs756624959 0.00002
NM_001283009.2(RTEL1):c.51C>T (p.Pro17=) rs769888088 0.00002
NM_001283009.2(RTEL1):c.765+11G>A rs771956401 0.00002
NM_001283009.2(RTEL1):c.765+14G>T rs775345695 0.00002
NM_001283009.2(RTEL1):c.831C>T (p.Asp277=) rs768009058 0.00002
NM_001283009.2(RTEL1):c.920-9C>T rs910613998 0.00002
NM_001363.5(DKC1):c.1206G>A (p.Gly402=) rs199803984 0.00002
NM_001363.5(DKC1):c.1335G>A (p.Ala445=) rs782765291 0.00002
NM_001363.5(DKC1):c.1338+13C>T rs781802524 0.00002
NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp) rs1557265675 0.00002
NM_001363.5(DKC1):c.1476+20G>A rs782675825 0.00002
NM_001363.5(DKC1):c.975C>T (p.Asp325=) rs374103494 0.00002
NM_001399.5(EDA):c.1099G>A (p.Ala367Thr) rs368531049 0.00002
NM_001399.5(EDA):c.135T>C (p.Gly45=) rs766017052 0.00002
NM_001399.5(EDA):c.396+10C>T rs754163471 0.00002
NM_001399.5(EDA):c.449A>G (p.Glu150Gly) rs764642744 0.00002
NM_001399.5(EDA):c.503-5T>C rs183243858 0.00002
NM_001399.5(EDA):c.546T>C (p.Pro182=) rs758937877 0.00002
NM_001399.5(EDA):c.741+5G>T rs763687144 0.00002
NM_001399.5(EDA):c.759A>G (p.Leu253=) rs757048479 0.00002
NM_001814.6(CTSC):c.641+8A>G rs754068012 0.00002
NM_002582.4(PARN):c.1192+7A>G rs766337795 0.00002
NM_002582.4(PARN):c.1377C>T (p.Ser459=) rs530411927 0.00002
NM_002582.4(PARN):c.1392T>C (p.Leu464=) rs550989940 0.00002
NM_002582.4(PARN):c.1406-8G>A rs529177861 0.00002
NM_002582.4(PARN):c.1887T>C (p.Pro629=) rs755932317 0.00002
NM_002582.4(PARN):c.328-8dup rs778705967 0.00002
NM_002582.4(PARN):c.345T>C (p.Phe115=) rs201678082 0.00002
NM_002582.4(PARN):c.453A>T (p.Ser151=) rs911902351 0.00002
NM_002582.4(PARN):c.876C>T (p.Asp292=) rs759199788 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.1068G>A (p.Thr356=) rs766094745 0.00002
NM_004415.4(DSP):c.1149A>G (p.Glu383=) rs572980966 0.00002
NM_004415.4(DSP):c.1191C>T (p.Asp397=) rs1046392713 0.00002
NM_004415.4(DSP):c.1215C>T (p.Cys405=) rs377500825 0.00002
NM_004415.4(DSP):c.1235A>G (p.Gln412Arg) rs1183147646 0.00002
NM_004415.4(DSP):c.1298G>A (p.Arg433His) rs752143388 0.00002
NM_004415.4(DSP):c.130C>T (p.Arg44Trp) rs1255744065 0.00002
NM_004415.4(DSP):c.1349C>T (p.Pro450Leu) rs756357907 0.00002
NM_004415.4(DSP):c.1419+18A>C rs772789817 0.00002
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu) rs761051181 0.00002
NM_004415.4(DSP):c.1522G>A (p.Val508Met) rs751537483 0.00002
NM_004415.4(DSP):c.1663A>T (p.Ile555Phe) rs763241703 0.00002
NM_004415.4(DSP):c.1677G>A (p.Lys559=) rs143356115 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.2027G>A (p.Arg676His) rs777782794 0.00002
NM_004415.4(DSP):c.2184T>A (p.Asp728Glu) rs750383681 0.00002
NM_004415.4(DSP):c.2275G>A (p.Val759Ile) rs745544854 0.00002
NM_004415.4(DSP):c.2329A>G (p.Ile777Val) rs755860619 0.00002
NM_004415.4(DSP):c.2364A>G (p.Glu788=) rs1397865751 0.00002
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu) rs774638728 0.00002
NM_004415.4(DSP):c.2568C>T (p.Phe856=) rs746036365 0.00002
NM_004415.4(DSP):c.2675G>A (p.Arg892His) rs758592774 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.274-4T>G rs755025350 0.00002
NM_004415.4(DSP):c.2771T>C (p.Met924Thr) rs752816142 0.00002
NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr) rs779878192 0.00002
NM_004415.4(DSP):c.3147G>A (p.Ser1049=) rs756341143 0.00002
NM_004415.4(DSP):c.3243G>A (p.Glu1081=) rs761399419 0.00002
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.3388G>A (p.Asp1130Asn) rs765769174 0.00002
NM_004415.4(DSP):c.3642T>A (p.Ile1214=) rs755908729 0.00002
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) rs794728120 0.00002
NM_004415.4(DSP):c.3729A>G (p.Ser1243=) rs150241609 0.00002
NM_004415.4(DSP):c.3753T>C (p.Asp1251=) rs749003139 0.00002
NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys) rs1262533485 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.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.4005G>A (p.Gln1335=) rs775720924 0.00002
NM_004415.4(DSP):c.4104C>A (p.Thr1368=) rs1464715776 0.00002
NM_004415.4(DSP):c.4221A>G (p.Glu1407=) rs144427450 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.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.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.5084G>A (p.Ser1695Asn) rs758637843 0.00002
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=) rs201663619 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.5358A>G (p.Lys1786=) rs771810995 0.00002
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr) rs764279057 0.00002
NM_004415.4(DSP):c.5655A>G (p.Arg1885=) rs768996277 0.00002
NM_004415.4(DSP):c.5726T>C (p.Ile1909Thr) rs752360866 0.00002
NM_004415.4(DSP):c.5913G>T (p.Leu1971=) rs373416071 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.6054C>T (p.Ile2018=) rs369700204 0.00002
NM_004415.4(DSP):c.6100G>A (p.Ala2034Thr) rs1043978096 0.00002
NM_004415.4(DSP):c.6223C>T (p.Arg2075Trp) rs751050235 0.00002
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly) rs755069593 0.00002
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe) rs766950975 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.6464A>G (p.Asp2155Gly) rs752740718 0.00002
NM_004415.4(DSP):c.6516T>C (p.Phe2172=) rs1266595950 0.00002
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala) rs730880088 0.00002
NM_004415.4(DSP):c.6597C>T (p.Leu2199=) rs567782337 0.00002
NM_004415.4(DSP):c.668G>A (p.Gly223Asp) rs199509943 0.00002
NM_004415.4(DSP):c.6690G>A (p.Pro2230=) rs145751089 0.00002
NM_004415.4(DSP):c.6732C>T (p.Asp2244=) rs764124433 0.00002
NM_004415.4(DSP):c.6762C>T (p.Leu2254=) rs138683913 0.00002
NM_004415.4(DSP):c.7074C>T (p.Leu2358=) rs766369241 0.00002
NM_004415.4(DSP):c.7116C>T (p.Ile2372=) rs185213858 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.7185C>T (p.Gly2395=) rs1296848321 0.00002
NM_004415.4(DSP):c.7191C>T (p.Phe2397=) rs150574081 0.00002
NM_004415.4(DSP):c.7197G>A (p.Glu2399=) rs372594837 0.00002
NM_004415.4(DSP):c.72G>A (p.Pro24=) rs780463807 0.00002
NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly) rs794728132 0.00002
NM_004415.4(DSP):c.7575C>T (p.Gly2525=) rs780156504 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7787T>C (p.Ile2596Thr) rs770590535 0.00002
NM_004415.4(DSP):c.7836C>T (p.Thr2612=) rs762381028 0.00002
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004415.4(DSP):c.797T>C (p.Met266Thr) rs370890663 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.8109A>G (p.Gly2703=) rs78736738 0.00002
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val) rs747284663 0.00002
NM_004415.4(DSP):c.8256G>A (p.Arg2752=) rs1313648350 0.00002
NM_004415.4(DSP):c.8279C>T (p.Ala2760Val) rs774309765 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.8394T>A (p.Thr2798=) rs775346694 0.00002
NM_004415.4(DSP):c.8402G>A (p.Arg2801His) rs763712887 0.00002
NM_004415.4(DSP):c.8484C>G (p.Gly2828=) rs1467235605 0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_004415.4(DSP):c.939+16G>A rs781034092 0.00002
NM_004415.4(DSP):c.940-15T>C rs766635749 0.00002
NM_014112.5(TRPS1):c.1892A>G (p.Gln631Arg) rs759189183 0.00002
NM_014112.5(TRPS1):c.217C>T (p.His73Tyr) rs572735161 0.00002
NM_014112.5(TRPS1):c.2240C>A (p.Ser747Tyr) rs867076249 0.00002
NM_014112.5(TRPS1):c.270C>T (p.Ser90=) rs76812525 0.00002
NM_014112.5(TRPS1):c.343C>T (p.His115Tyr) rs748128322 0.00002
NM_017838.4(NHP2):c.112C>T (p.Leu38=) rs925125777 0.00002
NM_017838.4(NHP2):c.160+8G>A rs777793268 0.00002
NM_017838.4(NHP2):c.195A>G (p.Lys65=) rs543057099 0.00002
NM_020529.3(NFKBIA):c.336+19C>T rs749325392 0.00002
NM_020529.3(NFKBIA):c.442C>T (p.Leu148=) rs371253544 0.00002
NM_020529.3(NFKBIA):c.465C>T (p.Gly155=) rs763183892 0.00002
NM_020529.3(NFKBIA):c.549C>T (p.Gly183=) rs769491611 0.00002
NM_020529.3(NFKBIA):c.636+19C>T rs759618202 0.00002
NM_020529.3(NFKBIA):c.907-9T>G rs781071814 0.00002
NM_020779.4(WDR35):c.1410T>C (p.His470=) rs1257210913 0.00002
NM_020779.4(WDR35):c.2643C>T (p.Cys881=) rs776211441 0.00002
NM_020779.4(WDR35):c.3189C>T (p.Cys1063=) rs1295936600 0.00002
NM_020779.4(WDR35):c.339A>G (p.Arg113=) rs750227579 0.00002
NM_022336.4(EDAR):c.1209G>A (p.Thr403=) rs200198949 0.00002
NM_022836.4(DCLRE1B):c.153C>G (p.Ser51=) rs760179150 0.00002
NM_022836.4(DCLRE1B):c.528C>T (p.Asn176=) rs144459176 0.00002
NM_022836.4(DCLRE1B):c.753G>A (p.Thr251=) rs574323645 0.00002
NM_022836.4(DCLRE1B):c.858C>T (p.Val286=) rs773997509 0.00002
NM_022836.4(DCLRE1B):c.993T>C (p.Ser331=) rs750879802 0.00002
NM_024589.3(ROGDI):c.118-11C>G rs371176268 0.00002
NM_024589.3(ROGDI):c.255+11C>T rs779818616 0.00002
NM_024589.3(ROGDI):c.337-13C>T rs762762043 0.00002
NM_024589.3(ROGDI):c.433-7C>A rs1387616706 0.00002
NM_024589.3(ROGDI):c.666C>T (p.Gly222=) rs750000066 0.00002
NM_024589.3(ROGDI):c.765C>T (p.Asn255=) rs144724709 0.00002
NM_024589.3(ROGDI):c.768C>T (p.Asp256=) rs753887163 0.00002
NM_024589.3(ROGDI):c.823-4G>A rs1024913332 0.00002
NM_025099.6(CTC1):c.1398C>G (p.Leu466=) rs777305874 0.00002
NM_025099.6(CTC1):c.1945+8G>A rs746083383 0.00002
NM_025099.6(CTC1):c.198-10C>T rs764516700 0.00002
NM_025099.6(CTC1):c.2476-6G>A rs768967446 0.00002
NM_025099.6(CTC1):c.2683T>C (p.Leu895=) rs764648488 0.00002
NM_025099.6(CTC1):c.3495G>A (p.Pro1165=) rs556097361 0.00002
NM_025099.6(CTC1):c.3515-9C>T rs1225599531 0.00002
NM_025099.6(CTC1):c.363G>A (p.Ser121=) rs770555372 0.00002
NM_025099.6(CTC1):c.390C>T (p.Asn130=) rs559790131 0.00002
NM_025099.6(CTC1):c.591C>T (p.Pro197=) rs538242855 0.00002
NM_025099.6(CTC1):c.793-17G>A rs751885616 0.00002
NM_025216.3(WNT10A):c.1116C>T (p.Cys372=) rs528163562 0.00002
NM_025216.3(WNT10A):c.177A>T (p.Thr59=) rs765843965 0.00002
NM_025216.3(WNT10A):c.199C>T (p.Leu67=) rs753324320 0.00002
NM_025216.3(WNT10A):c.377-11T>C rs369995297 0.00002
NM_025216.3(WNT10A):c.594G>A (p.Leu198=) rs373347655 0.00002
NM_025216.3(WNT10A):c.660C>T (p.Phe220=) rs765046353 0.00002
NM_025216.3(WNT10A):c.717C>T (p.His239=) rs774097907 0.00002
NM_025216.3(WNT10A):c.902G>C (p.Arg301Pro) rs777460453 0.00002
NM_025216.3(WNT10A):c.966G>C (p.Pro322=) rs767856988 0.00002
NM_052989.3(IFT122):c.1506G>C (p.Val502=) rs754396913 0.00002
NM_052989.3(IFT122):c.2548-20T>A rs764768307 0.00002
NM_052989.3(IFT122):c.2628T>C (p.Asp876=) rs750912015 0.00002
NM_052989.3(IFT122):c.2652G>A (p.Ala884=) rs201147770 0.00002
NM_052989.3(IFT122):c.291A>G (p.Gln97=) rs569507011 0.00002
NM_052989.3(IFT122):c.3228C>T (p.Asn1076=) rs367891133 0.00002
NM_052989.3(IFT122):c.3234C>T (p.Arg1078=) rs781733102 0.00002
NM_052989.3(IFT122):c.3504G>C (p.Val1168=) rs368239028 0.00002
NM_052989.3(IFT122):c.3677A>G (p.His1226Arg) rs750154715 0.00002
NM_052989.3(IFT122):c.42-17C>G rs752213678 0.00002
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129 0.00002
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073 0.00002
NM_147127.5(EVC2):c.1503C>G (p.Thr501=) rs369530549 0.00002
NM_147127.5(EVC2):c.1608A>G (p.Glu536=) rs201898124 0.00002
NM_147127.5(EVC2):c.1755G>A (p.Arg585=) rs375393612 0.00002
NM_147127.5(EVC2):c.2046+20A>C rs777490147 0.00002
NM_147127.5(EVC2):c.2073G>A (p.Ala691=) rs765197478 0.00002
NM_147127.5(EVC2):c.2337G>A (p.Glu779=) rs985968905 0.00002
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109 0.00002
NM_147127.5(EVC2):c.2439C>T (p.Asp813=) rs370538823 0.00002
NM_147127.5(EVC2):c.2502-19T>C rs564320592 0.00002
NM_147127.5(EVC2):c.2637A>G (p.Gln879=) rs749805702 0.00002
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415 0.00002
NM_147127.5(EVC2):c.2707-9C>G rs772234395 0.00002
NM_147127.5(EVC2):c.2949G>A (p.Ser983=) rs755297128 0.00002
NM_147127.5(EVC2):c.3057+13G>A rs770915834 0.00002
NM_147127.5(EVC2):c.3058-5T>C rs765936867 0.00002
NM_147127.5(EVC2):c.3168G>C (p.Gly1056=) rs778954685 0.00002
NM_147127.5(EVC2):c.3249A>G (p.Thr1083=) rs779715707 0.00002
NM_147127.5(EVC2):c.3360+9G>A rs747744305 0.00002
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248 0.00002
NM_147127.5(EVC2):c.3891T>C (p.Asn1297=) rs966509995 0.00002
NM_147127.5(EVC2):c.522G>A (p.Val174=) rs140251602 0.00002
NM_147127.5(EVC2):c.753A>G (p.Gly251=) rs369737795 0.00002
NM_147127.5(EVC2):c.792A>G (p.Gln264=) rs1014985062 0.00002
NM_147127.5(EVC2):c.924C>T (p.Leu308=) rs140800339 0.00002
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.114C>G (p.Leu38=) rs1167442380 0.00002
NM_153717.3(EVC):c.1389G>A (p.Thr463=) rs765596595 0.00002
NM_153717.3(EVC):c.1539C>T (p.Thr513=) rs549251750 0.00002
NM_153717.3(EVC):c.1581C>T (p.Thr527=) rs748792939 0.00002
NM_153717.3(EVC):c.1872C>T (p.Gly624=) rs374432399 0.00002
NM_153717.3(EVC):c.2098-4C>G rs771784128 0.00002
NM_153717.3(EVC):c.225C>T (p.Thr75=) rs200161588 0.00002
NM_153717.3(EVC):c.2331G>A (p.Glu777=) rs749197907 0.00002
NM_153717.3(EVC):c.2334C>T (p.Ser778=) rs754983705 0.00002
NM_153717.3(EVC):c.2449+8A>C rs575130220 0.00002
NM_153717.3(EVC):c.246A>G (p.Pro82=) rs144606687 0.00002
NM_153717.3(EVC):c.2894+9G>C rs776278582 0.00002
NM_153717.3(EVC):c.384+19A>G rs200666993 0.00002
NM_153717.3(EVC):c.411G>A (p.Pro137=) rs758770136 0.00002
NM_153717.3(EVC):c.474C>T (p.Ser158=) rs751812626 0.00002
NM_153717.3(EVC):c.519C>T (p.Ser173=) rs1287616282 0.00002
NM_153717.3(EVC):c.660C>T (p.Asp220=) rs200294295 0.00002
NM_153717.3(EVC):c.702+8G>A rs757444170 0.00002
NM_153717.3(EVC):c.801+16A>G rs774227453 0.00002
NM_153717.3(EVC):c.801+8T>C rs1388494242 0.00002
NM_198253.3(TERT):c.1164A>G (p.Gln388=) rs377477531 0.00002
NM_198253.3(TERT):c.1278T>C (p.Cys426=) rs1326706015 0.00002
NM_198253.3(TERT):c.1327A>G (p.Thr443Ala) rs1030586939 0.00002
NM_198253.3(TERT):c.1374C>T (p.Pro458=) rs1173874085 0.00002
NM_198253.3(TERT):c.1422C>T (p.Pro474=) rs139133620 0.00002
NM_198253.3(TERT):c.144C>T (p.Arg48=) rs746281705 0.00002
NM_198253.3(TERT):c.1580G>T (p.Gly527Val) rs1006357203 0.00002
NM_198253.3(TERT):c.1593C>T (p.Ala531=) rs146462061 0.00002
NM_198253.3(TERT):c.1701G>A (p.Thr567=) rs1485820714 0.00002
NM_198253.3(TERT):c.1791G>A (p.Gln597=) rs377106279 0.00002
NM_198253.3(TERT):c.1806G>A (p.Ser602=) rs773873942 0.00002
NM_198253.3(TERT):c.1843G>A (p.Ala615Thr) rs112614087 0.00002
NM_198253.3(TERT):c.2020G>A (p.Gly674Ser) rs773813809 0.00002
NM_198253.3(TERT):c.2061C>T (p.His687=) rs370486790 0.00002
NM_198253.3(TERT):c.2091G>A (p.Val697=) rs377436842 0.00002
NM_198253.3(TERT):c.2130+9C>T rs769050926 0.00002
NM_198253.3(TERT):c.2142G>A (p.Thr714=) rs762534978 0.00002
NM_198253.3(TERT):c.2187C>T (p.Ile729=) rs200819224 0.00002
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln) rs768168259 0.00002
NM_198253.3(TERT):c.222G>A (p.Val74=) rs373356928 0.00002
NM_198253.3(TERT):c.2251G>A (p.Ala751Thr) rs772070672 0.00002
NM_198253.3(TERT):c.2286+12G>A rs756363405 0.00002
NM_198253.3(TERT):c.2353C>G (p.Pro785Ala) rs755822641 0.00002
NM_198253.3(TERT):c.2383-14G>A rs1355213706 0.00002
NM_198253.3(TERT):c.2383-4G>A rs761513215 0.00002
NM_198253.3(TERT):c.2388C>T (p.Ser796=) rs950145141 0.00002
NM_198253.3(TERT):c.2451C>T (p.Ala817=) rs752794198 0.00002
NM_198253.3(TERT):c.2640G>A (p.Ala880=) rs754776542 0.00002
NM_198253.3(TERT):c.2646C>A (p.Thr882=) rs758561541 0.00002
NM_198253.3(TERT):c.2655-9C>T rs779014470 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.2843+17G>A rs370760096 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.2988G>A (p.Thr996=) rs776966669 0.00002
NM_198253.3(TERT):c.3032+18G>A rs768976875 0.00002
NM_198253.3(TERT):c.3033-18T>C rs763286040 0.00002
NM_198253.3(TERT):c.3126C>T (p.Leu1042=) rs377570406 0.00002
NM_198253.3(TERT):c.3240C>T (p.Leu1080=) rs758469915 0.00002
NM_198253.3(TERT):c.3251G>A (p.Arg1084Gln) rs765787352 0.00002
NM_198253.3(TERT):c.3330G>A (p.Thr1110=) rs772311888 0.00002
NM_198253.3(TERT):c.339G>A (p.Glu113=) rs757141480 0.00002
NM_198253.3(TERT):c.393G>A (p.Leu131=) rs752876848 0.00002
NM_198253.3(TERT):c.45C>T (p.Arg15=) rs750133706 0.00002
NM_198253.3(TERT):c.462A>T (p.Ala154=) rs558025297 0.00002
NM_198253.3(TERT):c.636C>T (p.Val212=) rs762440833 0.00002
NM_198253.3(TERT):c.672C>T (p.Arg224=) rs996032219 0.00002
NM_198253.3(TERT):c.776C>T (p.Pro259Leu) rs775613951 0.00002
NM_198253.3(TERT):c.786G>A (p.Thr262=) rs1007316528 0.00002
NM_198253.3(TERT):c.867C>T (p.Leu289=) rs771194908 0.00002
NM_198253.3(TERT):c.957G>A (p.Thr319=) rs1018341020 0.00002
NC_000016.10:g.67660305C>T rs780457506 0.00001
NM_000165.5(GJA1):c.150T>A (p.Ser50=) rs1451772901 0.00001
NM_000165.5(GJA1):c.15C>T (p.Ser5=) rs758641783 0.00001
NM_000165.5(GJA1):c.18C>T (p.Ala6=) rs200520137 0.00001
NM_000165.5(GJA1):c.192C>T (p.Val64=) rs1390540506 0.00001
NM_000165.5(GJA1):c.66G>A (p.Gly22=) rs754592117 0.00001
NM_000165.5(GJA1):c.690T>C (p.Tyr230=) rs775689247 0.00001
NM_000165.5(GJA1):c.715C>A (p.Arg239=) rs1248411159 0.00001
NM_001082486.2(ACD):c.-1G>C rs1432567553 0.00001
NM_001082486.2(ACD):c.-37C>T rs1377497479 0.00001
NM_001082486.2(ACD):c.1002C>T (p.Ser334=) rs372195324 0.00001
NM_001082486.2(ACD):c.1032C>T (p.Cys344=) rs776364958 0.00001
NM_001082486.2(ACD):c.114C>G (p.Ala38=) rs756189227 0.00001
NM_001082486.2(ACD):c.1158T>C (p.Phe386=) rs1371779126 0.00001
NM_001082486.2(ACD):c.1167C>T (p.Thr389=) rs370757729 0.00001
NM_001082486.2(ACD):c.1299-16G>A rs746378955 0.00001
NM_001082486.2(ACD):c.15G>T (p.Gly5=) rs1032620777 0.00001
NM_001082486.2(ACD):c.186C>T (p.Asp62=) rs998982026 0.00001
NM_001082486.2(ACD):c.242+8G>A rs1402954442 0.00001
NM_001082486.2(ACD):c.261C>A (p.Gly87=) rs752019137 0.00001
NM_001082486.2(ACD):c.337-10A>C rs566079044 0.00001
NM_001082486.2(ACD):c.337-6C>T rs772943251 0.00001
NM_001082486.2(ACD):c.414-5C>A rs372700670 0.00001
NM_001082486.2(ACD):c.486C>T (p.Ser162=) rs777238079 0.00001
NM_001082486.2(ACD):c.494-10_494-9del rs1190418028 0.00001
NM_001082486.2(ACD):c.494-11C>T rs368882788 0.00001
NM_001082486.2(ACD):c.666C>T (p.Val222=) rs374438854 0.00001
NM_001082486.2(ACD):c.693G>A (p.Glu231=) rs780267725 0.00001
NM_001082486.2(ACD):c.696T>C (p.Asn232=) rs544679646 0.00001
NM_001082486.2(ACD):c.711G>T (p.Leu237=) rs1212715141 0.00001
NM_001082486.2(ACD):c.743-4C>A rs1455941784 0.00001
NM_001082486.2(ACD):c.768G>A (p.Pro256=) rs1245603152 0.00001
NM_001082486.2(ACD):c.829+10T>C rs1332514211 0.00001
NM_001082486.2(ACD):c.830-12C>T rs748678952 0.00001
NM_001099274.3(TINF2):c.1032A>G (p.Pro344=) rs1295609085 0.00001
NM_001099274.3(TINF2):c.1155C>T (p.Ser385=) rs948013496 0.00001
NM_001099274.3(TINF2):c.1222-5T>G rs763885098 0.00001
NM_001099274.3(TINF2):c.129T>C (p.Ala43=) rs1488023738 0.00001
NM_001099274.3(TINF2):c.1305T>C (p.Gly435=) rs750447210 0.00001
NM_001099274.3(TINF2):c.1332T>C (p.Cys444=) rs1414894689 0.00001
NM_001099274.3(TINF2):c.141C>T (p.Gly47=) rs1351749746 0.00001
NM_001099274.3(TINF2):c.198G>A (p.Val66=) rs1374640214 0.00001
NM_001099274.3(TINF2):c.400-4G>A rs1566368389 0.00001
NM_001099274.3(TINF2):c.45C>T (p.Ala15=) rs750285418 0.00001
NM_001099274.3(TINF2):c.462C>T (p.Tyr154=) rs778034325 0.00001
NM_001099274.3(TINF2):c.508-19C>T rs750306834 0.00001
NM_001099274.3(TINF2):c.684C>T (p.His228=) rs370555134 0.00001
NM_001099274.3(TINF2):c.69G>A (p.Val23=) rs1280950659 0.00001
NM_001099274.3(TINF2):c.759A>G (p.Leu253=) rs1456646494 0.00001
NM_001099274.3(TINF2):c.765C>A (p.Gly255=) rs1171794268 0.00001
NM_001099274.3(TINF2):c.783C>A (p.Ala261=) rs1468911267 0.00001
NM_001099274.3(TINF2):c.930G>A (p.Ala310=) rs778877023 0.00001
NM_001110219.3(GJB6):c.300C>T (p.His100=) rs757592980 0.00001
NM_001283009.2(RTEL1):c.1000C>T (p.Leu334=) rs2090399178 0.00001
NM_001283009.2(RTEL1):c.1011C>T (p.Asp337=) rs755186853 0.00001
NM_001283009.2(RTEL1):c.102+16C>G rs765782315 0.00001
NM_001283009.2(RTEL1):c.1059T>C (p.Ala353=) rs774062676 0.00001
NM_001283009.2(RTEL1):c.105G>A (p.Lys35=) rs894771414 0.00001
NM_001283009.2(RTEL1):c.1104G>A (p.Ser368=) rs751001291 0.00001
NM_001283009.2(RTEL1):c.114C>A (p.Gly38=) rs1200738721 0.00001
NM_001283009.2(RTEL1):c.1179G>A (p.Ala393=) rs773272719 0.00001
NM_001283009.2(RTEL1):c.118C>T (p.Leu40=) rs766794455 0.00001
NM_001283009.2(RTEL1):c.1191+8C>G rs767844458 0.00001
NM_001283009.2(RTEL1):c.1192-7C>G rs1436664421 0.00001
NM_001283009.2(RTEL1):c.1209C>T (p.Asp403=) rs781077567 0.00001
NM_001283009.2(RTEL1):c.1251C>T (p.Ala417=) rs776000925 0.00001
NM_001283009.2(RTEL1):c.1266+11C>T rs2090575166 0.00001
NM_001283009.2(RTEL1):c.1267-11G>T rs368818852 0.00001
NM_001283009.2(RTEL1):c.1272C>T (p.His424=) rs750602767 0.00001
NM_001283009.2(RTEL1):c.1349-10C>T rs769533263 0.00001
NM_001283009.2(RTEL1):c.1349-12C>G rs1210407904 0.00001
NM_001283009.2(RTEL1):c.1349-16G>A rs768564368 0.00001
NM_001283009.2(RTEL1):c.1482-18C>T rs766676603 0.00001
NM_001283009.2(RTEL1):c.1494C>T (p.Val498=) rs777373768 0.00001
NM_001283009.2(RTEL1):c.1506C>T (p.Asn502=) rs749132537 0.00001
NM_001283009.2(RTEL1):c.150G>C (p.Leu50=) rs1178822970 0.00001
NM_001283009.2(RTEL1):c.1524G>A (p.Lys508=) rs2090635182 0.00001
NM_001283009.2(RTEL1):c.1560C>T (p.Pro520=) rs766940725 0.00001
NM_001283009.2(RTEL1):c.1569C>A (p.Ala523=) rs1601163315 0.00001
NM_001283009.2(RTEL1):c.1595+7G>A rs1464373152 0.00001
NM_001283009.2(RTEL1):c.1596-4C>T rs778986068 0.00001
NM_001283009.2(RTEL1):c.1596-5T>C rs1367203448 0.00001
NM_001283009.2(RTEL1):c.1596-6C>T rs770960415 0.00001
NM_001283009.2(RTEL1):c.1637-4C>T rs759414555 0.00001
NM_001283009.2(RTEL1):c.1637-9C>T rs2090642322 0.00001
NM_001283009.2(RTEL1):c.1641C>T (p.Asn547=) rs144371814 0.00001
NM_001283009.2(RTEL1):c.1644C>T (p.Ile548=) rs916261853 0.00001
NM_001283009.2(RTEL1):c.1650C>T (p.Arg550=) rs147825631 0.00001
NM_001283009.2(RTEL1):c.1677C>T (p.Phe559=) rs374168761 0.00001
NM_001283009.2(RTEL1):c.1689T>C (p.Tyr563=) rs1487068301 0.00001
NM_001283009.2(RTEL1):c.1722+9C>G rs1344464320 0.00001
NM_001283009.2(RTEL1):c.1794C>T (p.Phe598=) rs1177652366 0.00001
NM_001283009.2(RTEL1):c.1797C>T (p.Ser599=) rs775716486 0.00001
NM_001283009.2(RTEL1):c.1800+7A>G rs1477588250 0.00001
NM_001283009.2(RTEL1):c.1801-15C>T rs766762905 0.00001
NM_001283009.2(RTEL1):c.1824G>A (p.Arg608=) rs1389028462 0.00001
NM_001283009.2(RTEL1):c.1839G>A (p.Gly613=) rs757075776 0.00001
NM_001283009.2(RTEL1):c.1869C>T (p.Cys623=) rs1405032353 0.00001
NM_001283009.2(RTEL1):c.1875C>G (p.Gly625=) rs1479553590 0.00001
NM_001283009.2(RTEL1):c.1879-10T>C rs1337076899 0.00001
NM_001283009.2(RTEL1):c.1879-6C>T rs2090674485 0.00001
NM_001283009.2(RTEL1):c.1887G>A (p.Glu629=) rs1452035267 0.00001
NM_001283009.2(RTEL1):c.1905C>T (p.Asp635=) rs1204270300 0.00001
NM_001283009.2(RTEL1):c.1941G>A (p.Pro647=) rs149374241 0.00001
NM_001283009.2(RTEL1):c.1950A>G (p.Pro650=) rs761454817 0.00001
NM_001283009.2(RTEL1):c.2025+16G>A rs1291271552 0.00001
NM_001283009.2(RTEL1):c.2026-10C>T rs777334485 0.00001
NM_001283009.2(RTEL1):c.2026-7C>T rs1447966947 0.00001
NM_001283009.2(RTEL1):c.2058G>A (p.Gln686=) rs746824222 0.00001
NM_001283009.2(RTEL1):c.2109G>A (p.Gln703=) rs764545169 0.00001
NM_001283009.2(RTEL1):c.2127C>T (p.Phe709=) rs866837044 0.00001
NM_001283009.2(RTEL1):c.213G>A (p.Lys71=) rs910392571 0.00001
NM_001283009.2(RTEL1):c.2141+20A>C rs749402415 0.00001
NM_001283009.2(RTEL1):c.2142-4C>T rs762201678 0.00001
NM_001283009.2(RTEL1):c.2142-5C>T rs776835831 0.00001
NM_001283009.2(RTEL1):c.2170C>T (p.Leu724=) rs779981404 0.00001
NM_001283009.2(RTEL1):c.2172G>A (p.Leu724=) rs747160558 0.00001
NM_001283009.2(RTEL1):c.2190C>T (p.Pro730=) rs144933599 0.00001
NM_001283009.2(RTEL1):c.2193C>T (p.His731=) rs762588751 0.00001
NM_001283009.2(RTEL1):c.2196C>T (p.Val732=) rs1315335415 0.00001
NM_001283009.2(RTEL1):c.2223C>T (p.Val741=) rs752626736 0.00001
NM_001283009.2(RTEL1):c.2244C>T (p.Phe748=) rs753746592 0.00001
NM_001283009.2(RTEL1):c.2265+7T>G rs749693982 0.00001
NM_001283009.2(RTEL1):c.2265+8C>T rs771232929 0.00001
NM_001283009.2(RTEL1):c.2266-16C>T rs749817356 0.00001
NM_001283009.2(RTEL1):c.2277G>A (p.Pro759=) rs768310963 0.00001
NM_001283009.2(RTEL1):c.2346C>G (p.Pro782=) rs753928264 0.00001
NM_001283009.2(RTEL1):c.2385T>C (p.His795=) rs770647834 0.00001
NM_001283009.2(RTEL1):c.2403G>A (p.Gln801=) rs1219370345 0.00001
NM_001283009.2(RTEL1):c.2409C>G (p.Ser803=) rs764351692 0.00001
NM_001283009.2(RTEL1):c.2409C>T (p.Ser803=) rs764351692 0.00001
NM_001283009.2(RTEL1):c.2413+16G>A rs542801049 0.00001
NM_001283009.2(RTEL1):c.2414-10G>A rs372875118 0.00001
NM_001283009.2(RTEL1):c.2414-17C>G rs779901019 0.00001
NM_001283009.2(RTEL1):c.2414-9C>T rs763164910 0.00001
NM_001283009.2(RTEL1):c.2457G>A (p.Glu819=) rs1199472391 0.00001
NM_001283009.2(RTEL1):c.2460T>C (p.Tyr820=) rs779697253 0.00001
NM_001283009.2(RTEL1):c.2500C>T (p.Leu834=) rs375507524 0.00001
NM_001283009.2(RTEL1):c.2556+12G>A rs1432376954 0.00001
NM_001283009.2(RTEL1):c.2557-6C>T rs1222249904 0.00001
NM_001283009.2(RTEL1):c.2557-8C>G rs200385247 0.00001
NM_001283009.2(RTEL1):c.2557-9C>T rs1233346985 0.00001
NM_001283009.2(RTEL1):c.2562C>T (p.His854=) rs202018259 0.00001
NM_001283009.2(RTEL1):c.2580C>T (p.Ser860=) rs762526856 0.00001
NM_001283009.2(RTEL1):c.2613G>A (p.Pro871=) rs758611174 0.00001
NM_001283009.2(RTEL1):c.2640G>C (p.Leu880=) rs147439049 0.00001
NM_001283009.2(RTEL1):c.264C>T (p.Ser88=) rs1303682681 0.00001
NM_001283009.2(RTEL1):c.2655G>A (p.Glu885=) rs979303111 0.00001
NM_001283009.2(RTEL1):c.2763C>T (p.Asp921=) rs768967715 0.00001
NM_001283009.2(RTEL1):c.2769G>A (p.Lys923=) rs2090788815 0.00001
NM_001283009.2(RTEL1):c.2808C>A (p.Gly936=) rs774750824 0.00001
NM_001283009.2(RTEL1):c.282T>C (p.Ala94=) rs1339759498 0.00001
NM_001283009.2(RTEL1):c.2835G>A (p.Lys945=) rs750680332 0.00001
NM_001283009.2(RTEL1):c.2838C>T (p.His946=) rs756249274 0.00001
NM_001283009.2(RTEL1):c.2852-4A>G rs1456085879 0.00001
NM_001283009.2(RTEL1):c.2852-7T>C rs1332732473 0.00001
NM_001283009.2(RTEL1):c.2852-9C>T rs375886371 0.00001
NM_001283009.2(RTEL1):c.2868G>A (p.Val956=) rs766435400 0.00001
NM_001283009.2(RTEL1):c.2883G>A (p.Lys961=) rs1333357013 0.00001
NM_001283009.2(RTEL1):c.2901C>G (p.Val967=) rs1437204344 0.00001
NM_001283009.2(RTEL1):c.2911C>T (p.Leu971=) rs2090805113 0.00001
NM_001283009.2(RTEL1):c.2919A>G (p.Gly973=) rs767648957 0.00001
NM_001283009.2(RTEL1):c.2937G>A (p.Arg979=) rs768689934 0.00001
NM_001283009.2(RTEL1):c.2961G>A (p.Arg987=) rs765696960 0.00001
NM_001283009.2(RTEL1):c.2970A>C (p.Ala990=) rs930148195 0.00001
NM_001283009.2(RTEL1):c.2979C>G (p.Val993=) rs116365288 0.00001
NM_001283009.2(RTEL1):c.2992+10G>A rs756091219 0.00001
NM_001283009.2(RTEL1):c.2992+9G>C rs752627580 0.00001
NM_001283009.2(RTEL1):c.2993-6C>T rs1221404939 0.00001
NM_001283009.2(RTEL1):c.2993-8T>C rs1198061000 0.00001
NM_001283009.2(RTEL1):c.2993-9C>T rs1345171159 0.00001
NM_001283009.2(RTEL1):c.3012C>G (p.Pro1004=) rs1331174859 0.00001
NM_001283009.2(RTEL1):c.3021C>T (p.Thr1007=) rs762149661 0.00001
NM_001283009.2(RTEL1):c.3051C>T (p.Asp1017=) rs748756306 0.00001
NM_001283009.2(RTEL1):c.3076A>C (p.Arg1026=) rs148099608 0.00001
NM_001283009.2(RTEL1):c.3084C>T (p.His1028=) rs562364488 0.00001
NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=) rs753147923 0.00001
NM_001283009.2(RTEL1):c.3094A>C (p.Arg1032=) rs1227777952 0.00001
NM_001283009.2(RTEL1):c.3120C>T (p.Gly1040=) rs41298346 0.00001
NM_001283009.2(RTEL1):c.3138G>A (p.Gly1046=) rs762571471 0.00001
NM_001283009.2(RTEL1):c.3183C>T (p.Ser1061=) rs573260461 0.00001
NM_001283009.2(RTEL1):c.3201C>T (p.Ala1067=) rs773498759 0.00001
NM_001283009.2(RTEL1):c.3213G>A (p.Leu1071=) rs1209413497 0.00001
NM_001283009.2(RTEL1):c.3237C>T (p.Leu1079=) rs1362593763 0.00001
NM_001283009.2(RTEL1):c.3246G>A (p.Ala1082=) rs749570178 0.00001
NM_001283009.2(RTEL1):c.3276C>T (p.Leu1092=) rs143869851 0.00001
NM_001283009.2(RTEL1):c.333C>T (p.Tyr111=) rs749496657 0.00001
NM_001283009.2(RTEL1):c.3343+8G>C rs768036242 0.00001
NM_001283009.2(RTEL1):c.3344-5C>T rs751914068 0.00001
NM_001283009.2(RTEL1):c.3344-6C>G rs1455821579 0.00001
NM_001283009.2(RTEL1):c.3348C>T (p.Phe1116=) rs116037096 0.00001
NM_001283009.2(RTEL1):c.336C>T (p.Ala112=) rs778831023 0.00001
NM_001283009.2(RTEL1):c.3426C>G (p.Gly1142=) rs1421070072 0.00001
NM_001283009.2(RTEL1):c.3432G>A (p.Glu1144=) rs150020148 0.00001
NM_001283009.2(RTEL1):c.3444C>G (p.Pro1148=) rs761141453 0.00001
NM_001283009.2(RTEL1):c.3465G>A (p.Val1155=) rs779999962 0.00001
NM_001283009.2(RTEL1):c.3499+13C>T rs776151813 0.00001
NM_001283009.2(RTEL1):c.3499+7C>T rs1228292168 0.00001
NM_001283009.2(RTEL1):c.3500-10C>T rs1346472274 0.00001
NM_001283009.2(RTEL1):c.3500-4C>T rs375417864 0.00001
NM_001283009.2(RTEL1):c.3500-8G>A rs755399951 0.00001
NM_001283009.2(RTEL1):c.3501C>T (p.Gly1167=) rs2090950580 0.00001
NM_001283009.2(RTEL1):c.3510G>A (p.Arg1170=) rs1341254091 0.00001
NM_001283009.2(RTEL1):c.3519G>A (p.Lys1173=) rs979471304 0.00001
NM_001283009.2(RTEL1):c.3534G>A (p.Gln1178=) rs781484810 0.00001
NM_001283009.2(RTEL1):c.3552C>T (p.Phe1184=) rs760713860 0.00001
NM_001283009.2(RTEL1):c.3564G>A (p.Arg1188=) rs751837255 0.00001
NM_001283009.2(RTEL1):c.3603T>A (p.Gly1201=) rs779653630 0.00001
NM_001283009.2(RTEL1):c.3606C>T (p.Pro1202=) rs1187146202 0.00001
NM_001283009.2(RTEL1):c.360A>G (p.Thr120=) rs979746668 0.00001
NM_001283009.2(RTEL1):c.3615C>T (p.Ser1205=) rs797045923 0.00001
NM_001283009.2(RTEL1):c.3633G>A (p.Gly1211=) rs202163308 0.00001
NM_001283009.2(RTEL1):c.3687G>A (p.Gln1229=) rs781271056 0.00001
NM_001283009.2(RTEL1):c.36C>T (p.Asp12=) rs1214491069 0.00001
NM_001283009.2(RTEL1):c.3706G>A (p.Gly1236Arg) rs200225613 0.00001
NM_001283009.2(RTEL1):c.3708G>T (p.Gly1236=) rs754318726 0.00001
NM_001283009.2(RTEL1):c.3744G>A (p.Gly1248=) rs754522932 0.00001
NM_001283009.2(RTEL1):c.3760C>T (p.Pro1254Ser) rs1311759310 0.00001
NM_001283009.2(RTEL1):c.3801C>T (p.Ala1267=) rs368388044 0.00001
NM_001283009.2(RTEL1):c.3816C>T (p.His1272=) rs1230042093 0.00001
NM_001283009.2(RTEL1):c.3822+9C>T rs755701337 0.00001
NM_001283009.2(RTEL1):c.3823-4A>T rs369817802 0.00001
NM_001283009.2(RTEL1):c.3823-9G>A rs781387957 0.00001
NM_001283009.2(RTEL1):c.3825C>T (p.Ala1275=) rs775014813 0.00001
NM_001283009.2(RTEL1):c.3858C>T (p.Ser1286=) rs1265451456 0.00001
NM_001283009.2(RTEL1):c.3861G>A (p.Arg1287=) rs753235573 0.00001
NM_001283009.2(RTEL1):c.3864G>A (p.Lys1288=) rs1278011802 0.00001
NM_001283009.2(RTEL1):c.3870C>T (p.Ser1290=) rs765090741 0.00001
NM_001283009.2(RTEL1):c.395+19del rs780292704 0.00001
NM_001283009.2(RTEL1):c.396-5A>C rs761890952 0.00001
NM_001283009.2(RTEL1):c.396-6C>T rs778603711 0.00001
NM_001283009.2(RTEL1):c.396-79C>T rs776396450 0.00001
NM_001283009.2(RTEL1):c.456A>G (p.Lys152=) rs373428530 0.00001
NM_001283009.2(RTEL1):c.459A>G (p.Gln153=) rs761767090 0.00001
NM_001283009.2(RTEL1):c.477+16C>T rs201882552 0.00001
NM_001283009.2(RTEL1):c.477+7T>C rs141915461 0.00001
NM_001283009.2(RTEL1):c.477+9C>T rs1466334657 0.00001
NM_001283009.2(RTEL1):c.510C>T (p.Arg170=) rs2090048741 0.00001
NM_001283009.2(RTEL1):c.516T>C (p.Cys172=) rs1182512155 0.00001
NM_001283009.2(RTEL1):c.525C>T (p.Tyr175=) rs1161373315 0.00001
NM_001283009.2(RTEL1):c.531C>T (p.Asn177=) rs781051899 0.00001
NM_001283009.2(RTEL1):c.539-16del rs770791428 0.00001
NM_001283009.2(RTEL1):c.539-6C>A rs778544732 0.00001
NM_001283009.2(RTEL1):c.539-7C>T rs757040812 0.00001
NM_001283009.2(RTEL1):c.539-9C>T rs781419094 0.00001
NM_001283009.2(RTEL1):c.546C>T (p.Ser182=) rs145902382 0.00001
NM_001283009.2(RTEL1):c.567C>T (p.Ser189=) rs773728236 0.00001
NM_001283009.2(RTEL1):c.614+17A>C rs1364370191 0.00001
NM_001283009.2(RTEL1):c.615-10T>C rs762692931 0.00001
NM_001283009.2(RTEL1):c.615-13C>T rs189504124 0.00001
NM_001283009.2(RTEL1):c.615-4C>T rs766130332 0.00001
NM_001283009.2(RTEL1):c.624T>C (p.Pro208=) rs1396123455 0.00001
NM_001283009.2(RTEL1):c.654A>G (p.Gln218=) rs1335062115 0.00001
NM_001283009.2(RTEL1):c.657C>T (p.Ala219=) rs148367004 0.00001
NM_001283009.2(RTEL1):c.699+17G>A rs757244305 0.00001
NM_001283009.2(RTEL1):c.714C>T (p.His238=) rs372078666 0.00001
NM_001283009.2(RTEL1):c.72C>T (p.Tyr24=) rs1424161739 0.00001
NM_001283009.2(RTEL1):c.765+10C>T rs551599980 0.00001
NM_001283009.2(RTEL1):c.813C>T (p.Asp271=) rs1415789408 0.00001
NM_001283009.2(RTEL1):c.852G>A (p.Glu284=) rs764411233 0.00001
NM_001283009.2(RTEL1):c.870G>A (p.Ala290=) rs200099775 0.00001
NM_001283009.2(RTEL1):c.920-6G>C rs754549270 0.00001
NM_001283009.2(RTEL1):c.924G>A (p.Leu308=) rs767511395 0.00001
NM_001283009.2(RTEL1):c.9G>A (p.Lys3=) rs746271642 0.00001
NM_001363.5(DKC1):c.1155+19C>G rs782728035 0.00001
NM_001363.5(DKC1):c.1156-7C>T rs1397887971 0.00001
NM_001363.5(DKC1):c.1281G>A (p.Val427=) rs781964348 0.00001
NM_001363.5(DKC1):c.1455C>T (p.Ser485=) rs782136109 0.00001
NM_001363.5(DKC1):c.1476+13A>G rs781810616 0.00001
NM_001363.5(DKC1):c.1500G>A (p.Lys500=) rs782551669 0.00001
NM_001363.5(DKC1):c.1509G>A (p.Lys503=) rs782703327 0.00001
NM_001363.5(DKC1):c.1533G>C (p.Leu511Phe) rs782491403 0.00001
NM_001363.5(DKC1):c.262A>C (p.Arg88=) rs782317228 0.00001
NM_001363.5(DKC1):c.263+16A>G rs782490890 0.00001
NM_001363.5(DKC1):c.264-8C>A rs1557264149 0.00001
NM_001363.5(DKC1):c.36A>G (p.Lys12=) rs781936419 0.00001
NM_001363.5(DKC1):c.39T>C (p.His13=) rs782044075 0.00001
NM_001363.5(DKC1):c.449-10C>G rs1167594740 0.00001
NM_001363.5(DKC1):c.468T>A (p.Ile156=) rs782504051 0.00001
NM_001363.5(DKC1):c.519A>G (p.Leu173=) rs1466942555 0.00001
NM_001363.5(DKC1):c.537C>G (p.Ala179=) rs782697778 0.00001
NM_001363.5(DKC1):c.538T>C (p.Leu180=) rs1557264297 0.00001
NM_001363.5(DKC1):c.912T>C (p.Ser304=) rs782525899 0.00001
NM_001363.5(DKC1):c.915+9C>T rs1557264657 0.00001
NM_001363.5(DKC1):c.916-6C>G rs782345716 0.00001
NM_001363.5(DKC1):c.96C>T (p.His32=) rs1557264045 0.00001
NM_001399.5(EDA):c.1071G>A (p.Arg357=) rs1453813427 0.00001
NM_001399.5(EDA):c.1170A>G (p.Ala390=) rs1373879719 0.00001
NM_001399.5(EDA):c.234T>C (p.Leu78=) rs1569272277 0.00001
NM_001399.5(EDA):c.249C>G (p.Thr83=) rs769141538 0.00001
NM_001399.5(EDA):c.346T>C (p.Leu116=) rs1217340038 0.00001
NM_001399.5(EDA):c.403C>T (p.Leu135=) rs765510570 0.00001
NM_001399.5(EDA):c.558C>T (p.Gly186=) rs1569404832 0.00001
NM_001399.5(EDA):c.57G>A (p.Glu19=) rs758521262 0.00001
NM_001399.5(EDA):c.669T>G (p.Pro223=) rs1248603808 0.00001
NM_001399.5(EDA):c.707-5T>C rs761304256 0.00001
NM_001399.5(EDA):c.777A>C (p.Ala259=) rs777145505 0.00001
NM_001399.5(EDA):c.834T>G (p.Thr278=) rs749576852 0.00001
NM_001399.5(EDA):c.864C>T (p.Pro288=) rs1569406470 0.00001
NM_001399.5(EDA):c.924+9G>C rs761263650 0.00001
NM_001399.5(EDA):c.925-6A>G rs765272179 0.00001
NM_001399.5(EDA):c.990G>A (p.Leu330=) rs751769463 0.00001
NM_001814.6(CTSC):c.1176T>C (p.Gly392=) rs773977769 0.00001
NM_001814.6(CTSC):c.12G>A (p.Gly4=) rs755959403 0.00001
NM_001814.6(CTSC):c.642-15A>G rs748280232 0.00001
NM_001814.6(CTSC):c.804A>G (p.Glu268=) rs1264570336 0.00001
NM_001814.6(CTSC):c.81T>G (p.Pro27=) rs1370319468 0.00001
NM_002448.3(MSX1):c.123C>A (p.Ala41=) rs1001828551 0.00001
NM_002582.4(PARN):c.1005+12T>C rs370455325 0.00001
NM_002582.4(PARN):c.1044G>A (p.Lys348=) rs550419061 0.00001
NM_002582.4(PARN):c.1152C>T (p.Tyr384=) rs781722636 0.00001
NM_002582.4(PARN):c.1182C>G (p.Ala394=) rs753507535 0.00001
NM_002582.4(PARN):c.135T>C (p.Asn45=) rs181642805 0.00001
NM_002582.4(PARN):c.1481-8C>T rs1365036366 0.00001
NM_002582.4(PARN):c.1500T>C (p.Tyr500=) rs1596486011 0.00001
NM_002582.4(PARN):c.1620C>T (p.Asn540=) rs550755432 0.00001
NM_002582.4(PARN):c.177+16A>G rs756765052 0.00001
NM_002582.4(PARN):c.177+20A>G rs1477667575 0.00001
NM_002582.4(PARN):c.178-10C>T rs1328915368 0.00001
NM_002582.4(PARN):c.1824C>A (p.Ala608=) rs372735495 0.00001
NM_002582.4(PARN):c.1864+19C>T rs771533054 0.00001
NM_002582.4(PARN):c.1865-16T>C rs777247651 0.00001
NM_002582.4(PARN):c.1865-9T>C rs768874362 0.00001
NM_002582.4(PARN):c.19+17C>T rs943003147 0.00001
NM_002582.4(PARN):c.1914A>G (p.Thr638=) rs765213830 0.00001
NM_002582.4(PARN):c.20-8C>A rs747888634 0.00001
NM_002582.4(PARN):c.282G>A (p.Pro94=) rs1379435273 0.00001
NM_002582.4(PARN):c.328-7G>C rs1972011983 0.00001
NM_002582.4(PARN):c.618C>T (p.Thr206=) rs776536192 0.00001
NM_002582.4(PARN):c.621-20C>G rs1265999446 0.00001
NM_002582.4(PARN):c.784-15T>C rs1466685577 0.00001
NM_002582.4(PARN):c.840+13G>T rs747718824 0.00001
NM_002582.4(PARN):c.918+20G>A rs540580233 0.00001
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser) rs746245682 0.00001
NM_004415.4(DSP):c.1044+11T>C rs772511991 0.00001
NM_004415.4(DSP):c.1045-18G>A rs1332704469 0.00001
NM_004415.4(DSP):c.1051A>G (p.Met351Val) rs1372435657 0.00001
NM_004415.4(DSP):c.1065G>A (p.Gln355=) rs750289780 0.00001
NM_004415.4(DSP):c.106G>A (p.Gly36Ser) rs1395509692 0.00001
NM_004415.4(DSP):c.1077T>C (p.Ser359=) rs1179244955 0.00001
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe) rs794728112 0.00001
NM_004415.4(DSP):c.111C>T (p.Thr37=) rs727502995 0.00001
NM_004415.4(DSP):c.1141-14C>T rs1258179786 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.1262T>C (p.Leu421Pro) rs763523373 0.00001
NM_004415.4(DSP):c.1266+5C>T rs1052624321 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.1281A>G (p.Lys427=) rs1758928792 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.1383T>C (p.Ile461=) rs1758933736 0.00001
NM_004415.4(DSP):c.1452G>A (p.Leu484=) rs1413578599 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.1482C>T (p.Tyr494=) rs772925425 0.00001
NM_004415.4(DSP):c.1502T>C (p.Val501Ala) rs544017143 0.00001
NM_004415.4(DSP):c.1528C>T (p.Leu510=) rs1019692996 0.00001
NM_004415.4(DSP):c.153G>A (p.Gln51=) rs1450725914 0.00001
NM_004415.4(DSP):c.1545G>A (p.Pro515=) rs747953037 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.1575-16C>G rs756806835 0.00001
NM_004415.4(DSP):c.1575-7C>T rs1203683996 0.00001
NM_004415.4(DSP):c.1582C>G (p.Gln528Glu) rs1267435790 0.00001
NM_004415.4(DSP):c.1590C>T (p.Tyr530=) rs769196176 0.00001
NM_004415.4(DSP):c.163G>T (p.Gly55Cys) rs1214660308 0.00001
NM_004415.4(DSP):c.165C>T (p.Gly55=) rs1041730733 0.00001
NM_004415.4(DSP):c.1693A>G (p.Ile565Val) rs1287232143 0.00001
NM_004415.4(DSP):c.170+16G>A rs1475829163 0.00001
NM_004415.4(DSP):c.1702-10C>A rs774406075 0.00001
NM_004415.4(DSP):c.171-4T>C rs1554105598 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.1725T>C (p.Asp575=) rs756392585 0.00001
NM_004415.4(DSP):c.1728C>T (p.Tyr576=) rs760696358 0.00001
NM_004415.4(DSP):c.1731G>A (p.Met577Ile) rs794728101 0.00001
NM_004415.4(DSP):c.1737G>A (p.Thr579=) rs150734502 0.00001
NM_004415.4(DSP):c.1812C>T (p.Asp604=) rs1428325875 0.00001
NM_004415.4(DSP):c.1821A>G (p.Lys607=) rs768675424 0.00001
NM_004415.4(DSP):c.1824A>G (p.Ile608Met) rs776461292 0.00001
NM_004415.4(DSP):c.182C>T (p.Thr61Met) rs200250096 0.00001
NM_004415.4(DSP):c.1860G>A (p.Gln620=) rs762658467 0.00001
NM_004415.4(DSP):c.1864C>T (p.Leu622=) rs200790278 0.00001
NM_004415.4(DSP):c.195C>T (p.His65=) rs1324720466 0.00001
NM_004415.4(DSP):c.1960G>A (p.Val654Ile) rs375629257 0.00001
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser) rs749183448 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.2071C>T (p.Leu691Phe) rs1363445022 0.00001
NM_004415.4(DSP):c.2073C>G (p.Leu691=) rs768290750 0.00001
NM_004415.4(DSP):c.2077C>G (p.Leu693Val) rs1339486272 0.00001
NM_004415.4(DSP):c.210C>T (p.Thr70=) rs1303431114 0.00001
NM_004415.4(DSP):c.2130+8T>C rs1450035171 0.00001
NM_004415.4(DSP):c.2131-10T>C rs369821143 0.00001
NM_004415.4(DSP):c.2131-19T>C rs1302281595 0.00001
NM_004415.4(DSP):c.2131-5G>C rs767939332 0.00001
NM_004415.4(DSP):c.2194A>G (p.Asn732Asp) rs746785505 0.00001
NM_004415.4(DSP):c.223C>T (p.Leu75=) rs746019083 0.00001
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys) rs730880080 0.00001
NM_004415.4(DSP):c.2265T>C (p.Asn755=) rs770798708 0.00001
NM_004415.4(DSP):c.2270A>G (p.Asn757Ser) rs372354883 0.00001
NM_004415.4(DSP):c.2280A>C (p.Thr760=) rs1375561193 0.00001
NM_004415.4(DSP):c.2287T>C (p.Tyr763His) rs1064794463 0.00001
NM_004415.4(DSP):c.2298-17T>G rs375721577 0.00001
NM_004415.4(DSP):c.2316A>T (p.Ala772=) rs754896726 0.00001
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397 0.00001
NM_004415.4(DSP):c.2423G>A (p.Arg808His) rs372906646 0.00001
NM_004415.4(DSP):c.2437-9dup rs1239613725 0.00001
NM_004415.4(DSP):c.2469G>A (p.Ser823=) rs368945617 0.00001
NM_004415.4(DSP):c.2472G>A (p.Leu824=) rs763798166 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.2502A>G (p.Lys834=) rs764842338 0.00001
NM_004415.4(DSP):c.2515C>T (p.His839Tyr) rs1561693806 0.00001
NM_004415.4(DSP):c.2597G>A (p.Arg866His) rs764965132 0.00001
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr) rs534413559 0.00001
NM_004415.4(DSP):c.2630+10C>A rs757717367 0.00001
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys) rs730880081 0.00001
NM_004415.4(DSP):c.2658G>A (p.Lys886=) rs201404613 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.2728G>A (p.Asp910Asn) rs775080138 0.00001
NM_004415.4(DSP):c.273+11C>G rs1234194955 0.00001
NM_004415.4(DSP):c.273+9T>C rs1439195112 0.00001
NM_004415.4(DSP):c.2793+19T>C rs778502149 0.00001
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) rs759869347 0.00001
NM_004415.4(DSP):c.2841A>G (p.Val947=) rs1489060030 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.2877+19G>A rs1167474508 0.00001
NM_004415.4(DSP):c.2877+9G>T rs1759263896 0.00001
NM_004415.4(DSP):c.2878-4G>A rs758303966 0.00001
NM_004415.4(DSP):c.2886G>C (p.Glu962Asp) rs1483445708 0.00001
NM_004415.4(DSP):c.2925G>A (p.Leu975=) rs1163951082 0.00001
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys) rs1060500615 0.00001
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr) rs397516929 0.00001
NM_004415.4(DSP):c.2991A>C (p.Ala997=) rs780686578 0.00001
NM_004415.4(DSP):c.2993A>T (p.Asp998Val) rs752344739 0.00001
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp) rs772551736 0.00001
NM_004415.4(DSP):c.3011T>C (p.Ile1004Thr) rs910919703 0.00001
NM_004415.4(DSP):c.3084+9T>C rs751450713 0.00001
NM_004415.4(DSP):c.308G>A (p.Arg103Gln) rs775015862 0.00001
NM_004415.4(DSP):c.3117G>A (p.Glu1039=) rs763766403 0.00001
NM_004415.4(DSP):c.3141C>T (p.Ala1047=) rs1421186832 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.321G>A (p.Leu107=) rs765707433 0.00001
NM_004415.4(DSP):c.3221C>T (p.Ala1074Val) rs745849763 0.00001
NM_004415.4(DSP):c.3222G>A (p.Ala1074=) rs772040899 0.00001
NM_004415.4(DSP):c.3249G>A (p.Lys1083=) rs764787427 0.00001
NM_004415.4(DSP):c.326A>C (p.Glu109Ala) rs918984340 0.00001
NM_004415.4(DSP):c.327G>A (p.Glu109=) rs750816128 0.00001
NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser) rs771948271 0.00001
NM_004415.4(DSP):c.3333C>A (p.Ile1111=) rs1759349079 0.00001
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala) rs761524542 0.00001
NM_004415.4(DSP):c.3396T>C (p.Phe1132=) rs41302881 0.00001
NM_004415.4(DSP):c.340G>A (p.Ala114Thr) rs751745906 0.00001
NM_004415.4(DSP):c.3453G>A (p.Glu1151=) rs1554108084 0.00001
NM_004415.4(DSP):c.3471A>G (p.Lys1157=) rs371743739 0.00001
NM_004415.4(DSP):c.3520T>C (p.Leu1174=) rs1355577119 0.00001
NM_004415.4(DSP):c.3530T>A (p.Leu1177Gln) rs770489625 0.00001
NM_004415.4(DSP):c.3540A>G (p.Glu1180=) rs555514197 0.00001
NM_004415.4(DSP):c.3546C>T (p.Gly1182=) rs1355395147 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.3701A>G (p.Asn1234Ser) rs185367490 0.00001
NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe) rs752645827 0.00001
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln) rs867067755 0.00001
NM_004415.4(DSP):c.3819C>T (p.Asn1273=) rs1390665527 0.00001
NM_004415.4(DSP):c.3843C>T (p.Gly1281=) rs757848395 0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456 0.00001
NM_004415.4(DSP):c.3864G>A (p.Lys1288=) rs768166626 0.00001
NM_004415.4(DSP):c.386G>A (p.Arg129Gln) rs749155619 0.00001
NM_004415.4(DSP):c.3878T>C (p.Ile1293Thr) rs759823665 0.00001
NM_004415.4(DSP):c.3903G>A (p.Gln1301=) rs1284991362 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.3973A>C (p.Lys1325Gln) rs41302883 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.4125C>A (p.Thr1375=) rs766338180 0.00001
NM_004415.4(DSP):c.4173C>T (p.Tyr1391=) rs75537269 0.00001
NM_004415.4(DSP):c.4174C>T (p.Arg1392Trp) rs987487921 0.00001
NM_004415.4(DSP):c.423-17G>A rs936607131 0.00001
NM_004415.4(DSP):c.4242C>T (p.Asn1414=) rs375941706 0.00001
NM_004415.4(DSP):c.4248A>G (p.Leu1416=) rs760259046 0.00001
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys) rs577560157 0.00001
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271 0.00001
NM_004415.4(DSP):c.4311C>G (p.Gly1437=) rs781353867 0.00001
NM_004415.4(DSP):c.4347T>G (p.Val1449=) rs778043017 0.00001
NM_004415.4(DSP):c.4359A>G (p.Gln1453=) rs1174059606 0.00001
NM_004415.4(DSP):c.4376C>T (p.Thr1459Ile) rs1160666212 0.00001
NM_004415.4(DSP):c.4395T>C (p.Tyr1465=) rs1236464864 0.00001
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe) rs752121953 0.00001
NM_004415.4(DSP):c.4419C>T (p.Ala1473=) rs727504542 0.00001
NM_004415.4(DSP):c.4433A>G (p.Asp1478Gly) rs767339003 0.00001
NM_004415.4(DSP):c.4446G>A (p.Glu1482=) rs145213715 0.00001
NM_004415.4(DSP):c.4448T>C (p.Ile1483Thr) rs745872344 0.00001
NM_004415.4(DSP):c.4470C>T (p.Ile1490=) rs1759402221 0.00001
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) rs577061462 0.00001
NM_004415.4(DSP):c.4563G>A (p.Ala1521=) rs774258993 0.00001
NM_004415.4(DSP):c.4566G>A (p.Thr1522=) rs1159243386 0.00001
NM_004415.4(DSP):c.4620C>T (p.Ile1540=) rs1385558717 0.00001
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn) rs750607476 0.00001
NM_004415.4(DSP):c.4666A>G (p.Ile1556Val) rs530647574 0.00001
NM_004415.4(DSP):c.4668C>T (p.Ile1556=) rs1299604004 0.00001
NM_004415.4(DSP):c.4671G>A (p.Thr1557=) rs367767551 0.00001
NM_004415.4(DSP):c.4698G>A (p.Leu1566=) rs751608838 0.00001
NM_004415.4(DSP):c.4716G>A (p.Lys1572=) rs1759413690 0.00001
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp) rs755868373 0.00001
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln) rs397516942 0.00001
NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser) rs778603023 0.00001
NM_004415.4(DSP):c.4779G>A (p.Lys1593=) rs759646052 0.00001
NM_004415.4(DSP):c.479G>A (p.Arg160Gln) rs752941845 0.00001
NM_004415.4(DSP):c.4811C>T (p.Ser1604Leu) rs757018930 0.00001
NM_004415.4(DSP):c.4812G>A (p.Ser1604=) rs778729982 0.00001
NM_004415.4(DSP):c.4859A>G (p.Glu1620Gly) rs1423503309 0.00001
NM_004415.4(DSP):c.4950C>G (p.Thr1650=) rs948524246 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_004415.4(DSP):c.4983C>T (p.Val1661=) rs755233649 0.00001
NM_004415.4(DSP):c.498C>T (p.Ser166=) rs372869942 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.508G>A (p.Gly170Arg) rs779608764 0.00001
NM_004415.4(DSP):c.5091T>C (p.Asn1697=) rs780353871 0.00001
NM_004415.4(DSP):c.5118G>A (p.Leu1706=) rs747132423 0.00001
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe) rs372452104 0.00001
NM_004415.4(DSP):c.5130A>T (p.Thr1710=) rs1339008022 0.00001
NM_004415.4(DSP):c.5202G>C (p.Leu1734=) rs755220841 0.00001
NM_004415.4(DSP):c.5217C>T (p.Ser1739=) rs748263306 0.00001
NM_004415.4(DSP):c.5244C>T (p.Thr1748=) rs759222918 0.00001
NM_004415.4(DSP):c.5261G>A (p.Ser1754Asn) rs763526083 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_004415.4(DSP):c.5380-12C>T rs1393661264 0.00001
NM_004415.4(DSP):c.5380-15C>A rs753028657 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.5550A>G (p.Lys1850=) rs1759482564 0.00001
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789 0.00001
NM_004415.4(DSP):c.5594A>G (p.Asn1865Ser) rs780714982 0.00001
NM_004415.4(DSP):c.5611T>G (p.Tyr1871Asp) rs374844169 0.00001
NM_004415.4(DSP):c.5618G>A (p.Arg1873His) rs776088292 0.00001
NM_004415.4(DSP):c.5631T>C (p.Ala1877=) rs1231651139 0.00001
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941 0.00001
NM_004415.4(DSP):c.5656G>C (p.Glu1886Gln) rs776728790 0.00001
NM_004415.4(DSP):c.5698G>A (p.Glu1900Lys) rs751447598 0.00001
NM_004415.4(DSP):c.5722A>G (p.Arg1908Gly) rs781030107 0.00001
NM_004415.4(DSP):c.5749C>T (p.Leu1917=) rs936938713 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.5805T>C (p.Tyr1935=) rs748358814 0.00001
NM_004415.4(DSP):c.5810G>A (p.Arg1937Lys) rs375502200 0.00001
NM_004415.4(DSP):c.5820T>C (p.Asp1940=) rs763026647 0.00001
NM_004415.4(DSP):c.5834G>A (p.Arg1945His) rs759516161 0.00001
NM_004415.4(DSP):c.5838A>C (p.Pro1946=) rs369822839 0.00001
NM_004415.4(DSP):c.5859C>G (p.Thr1953=) rs752518537 0.00001
NM_004415.4(DSP):c.5880C>T (p.Thr1960=) rs375883982 0.00001
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) rs368869076 0.00001
NM_004415.4(DSP):c.588G>A (p.Arg196=) rs754666224 0.00001
NM_004415.4(DSP):c.5958C>T (p.Ile1986=) rs577625038 0.00001
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn) rs759443302 0.00001
NM_004415.4(DSP):c.5963A>G (p.Lys1988Arg) rs767516148 0.00001
NM_004415.4(DSP):c.5964A>G (p.Lys1988=) rs775247252 0.00001
NM_004415.4(DSP):c.597+8G>A rs992434570 0.00001
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu) rs763921000 0.00001
NM_004415.4(DSP):c.598-5C>T rs765653540 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys) rs753271305 0.00001
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln) rs185846631 0.00001
NM_004415.4(DSP):c.6150G>A (p.Glu2050=) rs1166392485 0.00001
NM_004415.4(DSP):c.61G>A (p.Glu21Lys) rs747956457 0.00001
NM_004415.4(DSP):c.6224G>A (p.Arg2075Gln) rs759000314 0.00001
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr) rs377035113 0.00001
NM_004415.4(DSP):c.6241G>A (p.Asp2081Asn) rs779129603 0.00001
NM_004415.4(DSP):c.6332T>C (p.Ile2111Thr) rs370865499 0.00001
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val) rs777184414 0.00001
NM_004415.4(DSP):c.634G>A (p.Ala212Thr) rs1028793473 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.6385A>G (p.Ile2129Val) rs755981187 0.00001
NM_004415.4(DSP):c.6441C>A (p.Val2147=) rs762513279 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.6549C>T (p.Tyr2183=) rs771461040 0.00001
NM_004415.4(DSP):c.6550G>A (p.Val2184Met) rs774832931 0.00001
NM_004415.4(DSP):c.6576C>A (p.Ile2192=) rs1032400756 0.00001
NM_004415.4(DSP):c.6585T>C (p.His2195=) rs1759541694 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.6699C>T (p.Val2233=) rs767835744 0.00001
NM_004415.4(DSP):c.6776G>A (p.Cys2259Tyr) rs754635738 0.00001
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr) rs730880089 0.00001
NM_004415.4(DSP):c.6852A>G (p.Arg2284=) rs141148057 0.00001
NM_004415.4(DSP):c.6879A>G (p.Glu2293=) rs1327990933 0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.6921C>T (p.Asn2307=) rs775897238 0.00001
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys) rs770210088 0.00001
NM_004415.4(DSP):c.6930A>G (p.Leu2310=) rs1759552189 0.00001
NM_004415.4(DSP):c.6939G>A (p.Glu2313=) rs1471693700 0.00001
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys) rs765245807 0.00001
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) rs777901747 0.00001
NM_004415.4(DSP):c.7046C>G (p.Ser2349Cys) rs769930190 0.00001
NM_004415.4(DSP):c.7068G>A (p.Lys2356=) rs762892811 0.00001
NM_004415.4(DSP):c.7083G>A (p.Lys2361=) rs1273820779 0.00001
NM_004415.4(DSP):c.7102T>C (p.Leu2368=) rs1581823488 0.00001
NM_004415.4(DSP):c.720C>T (p.Ala240=) rs1324798719 0.00001
NM_004415.4(DSP):c.7215C>T (p.Leu2405=) rs191226040 0.00001
NM_004415.4(DSP):c.721G>A (p.Asp241Asn) rs868293429 0.00001
NM_004415.4(DSP):c.7249G>T (p.Asp2417Tyr) rs760501352 0.00001
NM_004415.4(DSP):c.726+8T>C rs1554106248 0.00001
NM_004415.4(DSP):c.7287A>G (p.Leu2429=) rs764641630 0.00001
NM_004415.4(DSP):c.7396G>A (p.Val2466Met) rs745862520 0.00001
NM_004415.4(DSP):c.7413A>G (p.Pro2471=) rs772161814 0.00001
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn) rs760552749 0.00001
NM_004415.4(DSP):c.7470T>C (p.Tyr2490=) rs372896350 0.00001
NM_004415.4(DSP):c.7549G>T (p.Val2517Leu) rs764359340 0.00001
NM_004415.4(DSP):c.7551G>A (p.Val2517=) rs754127386 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.7596T>C (p.Asp2532=) rs769362448 0.00001
NM_004415.4(DSP):c.7618G>A (p.Asp2540Asn) rs761136328 0.00001
NM_004415.4(DSP):c.7644A>T (p.Arg2548=) rs886039159 0.00001
NM_004415.4(DSP):c.7701C>T (p.Val2567=) rs772907439 0.00001
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser) rs139486943 0.00001
NM_004415.4(DSP):c.772C>T (p.Leu258=) rs147522043 0.00001
NM_004415.4(DSP):c.7731C>T (p.Val2577=) rs1320894353 0.00001
NM_004415.4(DSP):c.7735G>A (p.Asp2579Asn) rs750744914 0.00001
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) rs751712837 0.00001
NM_004415.4(DSP):c.777+12T>G rs764388232 0.00001
NM_004415.4(DSP):c.778-9C>T rs773949949 0.00001
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val) rs1301635888 0.00001
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu) rs571577908 0.00001
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val) rs752616130 0.00001
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln) rs144821643 0.00001
NM_004415.4(DSP):c.7910T>C (p.Ile2637Thr) rs1229128923 0.00001
NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys) rs770390645 0.00001
NM_004415.4(DSP):c.7923C>T (p.Ile2641=) rs773906008 0.00001
NM_004415.4(DSP):c.7926T>G (p.Val2642=) rs917556170 0.00001
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr) rs749682166 0.00001
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met) rs1425701789 0.00001
NM_004415.4(DSP):c.794G>A (p.Arg265Lys) rs1064796438 0.00001
NM_004415.4(DSP):c.7962G>A (p.Gln2654=) rs767539050 0.00001
NM_004415.4(DSP):c.7990A>G (p.Thr2664Ala) rs1260154229 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 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.8087T>C (p.Ile2696Thr) rs1415854040 0.00001
NM_004415.4(DSP):c.8094C>T (p.Phe2698=) rs1201885200 0.00001
NM_004415.4(DSP):c.809G>A (p.Arg270Gln) rs1203795810 0.00001
NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu) rs1194266904 0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp) rs375348086 0.00001
NM_004415.4(DSP):c.8136A>T (p.Ala2712=) rs1759620884 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.8174G>A (p.Arg2725His) rs776674939 0.00001
NM_004415.4(DSP):c.8197A>T (p.Thr2733Ser) rs1157650702 0.00001
NM_004415.4(DSP):c.8235A>G (p.Ile2745Met) rs768893360 0.00001
NM_004415.4(DSP):c.8277C>T (p.Arg2759=) rs1248664648 0.00001
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607 0.00001
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys) rs371020228 0.00001
NM_004415.4(DSP):c.8310T>C (p.Tyr2770=) rs750982524 0.00001
NM_004415.4(DSP):c.8364C>T (p.Ala2788=) rs756256863 0.00001
NM_004415.4(DSP):c.8372G>A (p.Arg2791His) rs749339594 0.00001
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr) rs769734918 0.00001
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) rs139969658 0.00001
NM_004415.4(DSP):c.8477G>A (p.Arg2826His) rs548754771 0.00001
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys) rs767961179 0.00001
NM_004415.4(DSP):c.8508A>G (p.Gly2836=) rs754074127 0.00001
NM_004415.4(DSP):c.8511T>C (p.Ser2837=) rs757475874 0.00001
NM_004415.4(DSP):c.8529T>C (p.Ser2843=) rs780005300 0.00001
NM_004415.4(DSP):c.8539A>C (p.Arg2847=) rs113629968 0.00001
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr) rs148550678 0.00001
NM_004415.4(DSP):c.8580T>C (p.Tyr2860=) rs201441128 0.00001
NM_004415.4(DSP):c.8610G>A (p.Gly2870=) rs910215418 0.00001
NM_004415.4(DSP):c.939+19G>T rs777724973 0.00001
NM_004415.4(DSP):c.940-5C>T rs368391882 0.00001
NM_004415.4(DSP):c.940-9C>T rs1016646349 0.00001
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777 0.00001
NM_004415.4(DSP):c.965A>G (p.Lys322Arg) rs757098196 0.00001
NM_004415.4(DSP):c.976C>T (p.Leu326Phe) rs117961973 0.00001
NM_004415.4(DSP):c.998G>A (p.Ser333Asn) rs749695729 0.00001
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973 0.00001
NM_014112.5(TRPS1):c.1239G>A (p.Lys413=) rs568714002 0.00001
NM_014112.5(TRPS1):c.1572C>T (p.Ser524=) rs765625635 0.00001
NM_014112.5(TRPS1):c.1644C>T (p.Ser548=) rs1237070966 0.00001
NM_014112.5(TRPS1):c.1875C>T (p.Val625=) rs752692840 0.00001
NM_014112.5(TRPS1):c.2637C>T (p.Leu879=) rs559046751 0.00001
NM_014112.5(TRPS1):c.2706T>C (p.Arg902=) rs754260940 0.00001
NM_014112.5(TRPS1):c.3105C>T (p.Val1035=) rs753629655 0.00001
NM_014112.5(TRPS1):c.3337G>A (p.Val1113Ile) rs368980249 0.00001
NM_014112.5(TRPS1):c.3594G>A (p.Thr1198=) rs185725906 0.00001
NM_014112.5(TRPS1):c.846C>T (p.Asn282=) rs369477249 0.00001
NM_014112.5(TRPS1):c.88G>A (p.Glu30Lys) rs371442998 0.00001
NM_017838.4(NHP2):c.160+9G>A rs756638436 0.00001
NM_017838.4(NHP2):c.230+19C>G rs1244247196 0.00001
NM_018648.4(NOP10):c.102G>A (p.Arg34=) rs746979721 0.00001
NM_020529.3(NFKBIA):c.219C>T (p.Asp73=) rs371348054 0.00001
NM_020529.3(NFKBIA):c.228-15C>T rs752721097 0.00001
NM_020529.3(NFKBIA):c.228-8C>G rs774048454 0.00001
NM_020529.3(NFKBIA):c.228-9T>C rs539761554 0.00001
NM_020529.3(NFKBIA):c.265C>T (p.Leu89=) rs201058640 0.00001
NM_020529.3(NFKBIA):c.297A>C (p.Gly99=) rs757465465 0.00001
NM_020529.3(NFKBIA):c.336+11T>G rs1446919427 0.00001
NM_020529.3(NFKBIA):c.337-15C>T rs758334419 0.00001
NM_020529.3(NFKBIA):c.444A>C (p.Leu148=) rs1458803729 0.00001
NM_020529.3(NFKBIA):c.504C>T (p.Thr168=) rs768764676 0.00001
NM_020529.3(NFKBIA):c.510G>A (p.Pro170=) rs748972316 0.00001
NM_020529.3(NFKBIA):c.539A>C (p.Asn180Thr) rs376763952 0.00001
NM_020529.3(NFKBIA):c.63G>A (p.Lys21=) rs779802553 0.00001
NM_020529.3(NFKBIA):c.753T>C (p.Tyr251=) rs773665307 0.00001
NM_020529.3(NFKBIA):c.783A>C (p.Pro261=) rs376370831 0.00001
NM_020529.3(NFKBIA):c.810C>T (p.Gly270=) rs983972574 0.00001
NM_020529.3(NFKBIA):c.847A>T (p.Ser283Cys) rs989569540 0.00001
NM_020529.3(NFKBIA):c.894C>T (p.Phe298=) rs777020702 0.00001
NM_020529.3(NFKBIA):c.906+19T>C rs1262400830 0.00001
NM_020529.3(NFKBIA):c.936C>T (p.Gly312=) rs1250939805 0.00001
NM_020529.3(NFKBIA):c.948G>A (p.Thr316=) rs772630322 0.00001
NM_020779.4(WDR35):c.1009-18T>A rs113816809 0.00001
NM_020779.4(WDR35):c.135G>A (p.Thr45=) rs773319707 0.00001
NM_020779.4(WDR35):c.1374A>G (p.Thr458=) rs778066578 0.00001
NM_020779.4(WDR35):c.1446G>A (p.Val482=) rs569920075 0.00001
NM_020779.4(WDR35):c.1662A>T (p.Gly554=) rs767878828 0.00001
NM_020779.4(WDR35):c.2157T>C (p.Phe719=) rs755951192 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.24+9C>T rs754703472 0.00001
NM_020779.4(WDR35):c.2691T>C (p.His897=) rs1192258496 0.00001
NM_020779.4(WDR35):c.2739A>G (p.Leu913=) rs774699751 0.00001
NM_020779.4(WDR35):c.3195C>T (p.Cys1065=) rs375805945 0.00001
NM_020779.4(WDR35):c.3207C>T (p.Ala1069=) rs748710979 0.00001
NM_020779.4(WDR35):c.3363-9G>A rs375053867 0.00001
NM_020779.4(WDR35):c.378C>T (p.Asp126=) rs770081985 0.00001
NM_020779.4(WDR35):c.666T>A (p.Pro222=) rs987346249 0.00001
NM_020779.4(WDR35):c.761T>C (p.Met254Thr) rs547986777 0.00001
NM_022336.4(EDAR):c.1059C>T (p.Leu353=) rs777416175 0.00001
NM_022336.4(EDAR):c.708C>T (p.Asp236=) rs751689993 0.00001
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=) rs759682384 0.00001
NM_022836.4(DCLRE1B):c.12C>T (p.Val4=) rs34713392 0.00001
NM_022836.4(DCLRE1B):c.135C>T (p.Ala45=) rs768672121 0.00001
NM_022836.4(DCLRE1B):c.1455C>T (p.His485=) rs1558110685 0.00001
NM_022836.4(DCLRE1B):c.1500A>C (p.Leu500=) rs760666458 0.00001
NM_022836.4(DCLRE1B):c.243C>G (p.Pro81=) rs762552451 0.00001
NM_022836.4(DCLRE1B):c.582C>T (p.Ala194=) rs1421095735 0.00001
NM_022836.4(DCLRE1B):c.960G>A (p.Pro320=) rs771842799 0.00001
NM_022836.4(DCLRE1B):c.99C>T (p.His33=) rs747335906 0.00001
NM_024589.3(ROGDI):c.117+20C>G rs775190336 0.00001
NM_024589.3(ROGDI):c.118-6C>T rs760381641 0.00001
NM_024589.3(ROGDI):c.186C>T (p.Ile62=) rs1216877367 0.00001
NM_024589.3(ROGDI):c.201-13C>T rs1240510403 0.00001
NM_024589.3(ROGDI):c.201-9A>T rs749175130 0.00001
NM_024589.3(ROGDI):c.21G>A (p.Ala7=) rs1216626161 0.00001
NM_024589.3(ROGDI):c.249C>T (p.Ser83=) rs769659198 0.00001
NM_024589.3(ROGDI):c.256-4T>C rs1455512655 0.00001
NM_024589.3(ROGDI):c.256-5G>A rs572561598 0.00001
NM_024589.3(ROGDI):c.256-7C>G rs374098348 0.00001
NM_024589.3(ROGDI):c.267G>A (p.Leu89=) rs770605828 0.00001
NM_024589.3(ROGDI):c.292C>T (p.Leu98=) rs1366205416 0.00001
NM_024589.3(ROGDI):c.333G>A (p.Gln111=) rs1263184916 0.00001
NM_024589.3(ROGDI):c.336+8C>T rs1447116245 0.00001
NM_024589.3(ROGDI):c.36G>A (p.Arg12=) rs1034942616 0.00001
NM_024589.3(ROGDI):c.375C>T (p.Tyr125=) rs748410768 0.00001
NM_024589.3(ROGDI):c.376C>T (p.Leu126=) rs775252143 0.00001
NM_024589.3(ROGDI):c.432+14G>A rs568004509 0.00001
NM_024589.3(ROGDI):c.432+17C>T rs377687764 0.00001
NM_024589.3(ROGDI):c.447G>C (p.Val149=) rs1060504776 0.00001
NM_024589.3(ROGDI):c.45+15C>T rs1408044583 0.00001
NM_024589.3(ROGDI):c.46-4G>A rs775523259 0.00001
NM_024589.3(ROGDI):c.48G>A (p.Glu16=) rs771954544 0.00001
NM_024589.3(ROGDI):c.507C>T (p.Pro169=) rs767771299 0.00001
NM_024589.3(ROGDI):c.531+20C>T rs1258798420 0.00001
NM_024589.3(ROGDI):c.532-5C>T rs756577944 0.00001
NM_024589.3(ROGDI):c.532-7C>T rs1273592198 0.00001
NM_024589.3(ROGDI):c.540C>T (p.Phe180=) rs373433527 0.00001
NM_024589.3(ROGDI):c.546T>C (p.Pro182=) rs753694941 0.00001
NM_024589.3(ROGDI):c.573C>T (p.Asn191=) rs780108056 0.00001
NM_024589.3(ROGDI):c.646-6C>T rs200792197 0.00001
NM_024589.3(ROGDI):c.651C>T (p.Phe217=) rs773539275 0.00001
NM_024589.3(ROGDI):c.696-16C>T rs373940267 0.00001
NM_024589.3(ROGDI):c.753C>T (p.Ile251=) rs144581570 0.00001
NM_024589.3(ROGDI):c.756C>G (p.Pro252=) rs781037239 0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) rs749782882 0.00001
NM_024589.3(ROGDI):c.798G>A (p.Gln266=) rs1157020326 0.00001
NM_024589.3(ROGDI):c.819C>T (p.Asp273=) rs762853362 0.00001
NM_024589.3(ROGDI):c.91T>C (p.Leu31=) rs1201976752 0.00001
NM_025099.6(CTC1):c.1032G>A (p.Lys344=) rs376394434 0.00001
NM_025099.6(CTC1):c.1047T>C (p.Leu349=) rs1161961298 0.00001
NM_025099.6(CTC1):c.105T>C (p.Asn35=) rs775601506 0.00001
NM_025099.6(CTC1):c.1068A>G (p.Leu356=) rs756221416 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.1155C>T (p.Tyr385=) rs1170351542 0.00001
NM_025099.6(CTC1):c.1206+7G>C rs949969553 0.00001
NM_025099.6(CTC1):c.1207-7C>A rs746123381 0.00001
NM_025099.6(CTC1):c.1242G>A (p.Gly414=) rs778096377 0.00001
NM_025099.6(CTC1):c.12C>G (p.Gly4=) rs758287945 0.00001
NM_025099.6(CTC1):c.1350C>T (p.Ala450=) rs763760200 0.00001
NM_025099.6(CTC1):c.1467C>T (p.His489=) rs755429023 0.00001
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183 0.00001
NM_025099.6(CTC1):c.1515A>G (p.Gln505=) rs759341353 0.00001
NM_025099.6(CTC1):c.1617+8G>A rs200232133 0.00001
NM_025099.6(CTC1):c.1618-14T>C rs767597943 0.00001
NM_025099.6(CTC1):c.1620C>T (p.Tyr540=) rs765073204 0.00001
NM_025099.6(CTC1):c.1635T>C (p.Thr545=) rs768300804 0.00001
NM_025099.6(CTC1):c.1650C>T (p.Pro550=) rs368449753 0.00001
NM_025099.6(CTC1):c.1710G>A (p.Lys570=) rs376757390 0.00001
NM_025099.6(CTC1):c.1743G>A (p.Leu581=) rs1256128659 0.00001
NM_025099.6(CTC1):c.1794G>A (p.Leu598=) rs1171819624 0.00001
NM_025099.6(CTC1):c.1819-14T>G rs753627056 0.00001
NM_025099.6(CTC1):c.183G>A (p.Leu61=) rs1273538880 0.00001
NM_025099.6(CTC1):c.1899G>C (p.Leu633=) rs983492190 0.00001
NM_025099.6(CTC1):c.1980C>T (p.Ile660=) rs929139383 0.00001
NM_025099.6(CTC1):c.204C>T (p.Val68=) rs767705861 0.00001
NM_025099.6(CTC1):c.2061-7C>T rs766368157 0.00001
NM_025099.6(CTC1):c.2121T>G (p.Leu707=) rs899017902 0.00001
NM_025099.6(CTC1):c.2250A>G (p.Pro750=) rs200036724 0.00001
NM_025099.6(CTC1):c.2277C>T (p.Pro759=) rs1264286773 0.00001
NM_025099.6(CTC1):c.2376T>C (p.Asn792=) rs1206581935 0.00001
NM_025099.6(CTC1):c.2385+18G>A rs1449666905 0.00001
NM_025099.6(CTC1):c.2386-10A>G rs746382653 0.00001
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730 0.00001
NM_025099.6(CTC1):c.2476-15C>G rs748214993 0.00001
NM_025099.6(CTC1):c.2476-20G>A rs374177499 0.00001
NM_025099.6(CTC1):c.2652C>T (p.Thr884=) rs764276520 0.00001
NM_025099.6(CTC1):c.2697C>T (p.Ser899=) rs551850837 0.00001
NM_025099.6(CTC1):c.2712A>G (p.Ser904=) rs1597376076 0.00001
NM_025099.6(CTC1):c.2730C>T (p.Pro910=) rs1302556489 0.00001
NM_025099.6(CTC1):c.2739G>A (p.Ala913=) rs745541560 0.00001
NM_025099.6(CTC1):c.2759-10C>A rs766460177 0.00001
NM_025099.6(CTC1):c.2759-18C>T rs751836178 0.00001
NM_025099.6(CTC1):c.2766G>A (p.Thr922=) rs775342727 0.00001
NM_025099.6(CTC1):c.2934-16C>T rs759449159 0.00001
NM_025099.6(CTC1):c.3003C>T (p.Thr1001=) rs1228344704 0.00001
NM_025099.6(CTC1):c.306T>C (p.Asn102=) rs1469406841 0.00001
NM_025099.6(CTC1):c.30C>T (p.Ser10=) rs200258559 0.00001
NM_025099.6(CTC1):c.3156+13A>C rs554186531 0.00001
NM_025099.6(CTC1):c.3156+18C>T rs1987003651 0.00001
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385 0.00001
NM_025099.6(CTC1):c.3330C>T (p.Phe1110=) rs779335414 0.00001
NM_025099.6(CTC1):c.3514+14C>T rs551437595 0.00001
NM_025099.6(CTC1):c.3564T>C (p.Thr1188=) rs750119408 0.00001
NM_025099.6(CTC1):c.435+12G>A rs1246653256 0.00001
NM_025099.6(CTC1):c.534C>T (p.His178=) rs1251648065 0.00001
NM_025099.6(CTC1):c.647+12C>G rs750369449 0.00001
NM_025099.6(CTC1):c.744T>G (p.Ser248=) rs1219363352 0.00001
NM_025099.6(CTC1):c.786C>T (p.Ile262=) rs781453163 0.00001
NM_025099.6(CTC1):c.918T>C (p.Arg306=) rs770766250 0.00001
NM_025099.6(CTC1):c.99G>A (p.Glu33=) rs201091226 0.00001
NM_025216.3(WNT10A):c.1023G>A (p.Lys341=) rs772468324 0.00001
NM_025216.3(WNT10A):c.1098C>T (p.Ser366=) rs748882359 0.00001
NM_025216.3(WNT10A):c.1140C>T (p.Gly380=) rs546588039 0.00001
NM_025216.3(WNT10A):c.1170G>A (p.Glu390=) rs1166558151 0.00001
NM_025216.3(WNT10A):c.1239C>A (p.Val413=) rs1189350015 0.00001
NM_025216.3(WNT10A):c.150C>T (p.Pro50=) rs761730775 0.00001
NM_025216.3(WNT10A):c.168T>C (p.Asn56=) rs758914779 0.00001
NM_025216.3(WNT10A):c.273C>T (p.Ile91=) rs1011612159 0.00001
NM_025216.3(WNT10A):c.288C>T (p.Cys96=) rs1285105830 0.00001
NM_025216.3(WNT10A):c.297A>G (p.Gln99=) rs763599568 0.00001
NM_025216.3(WNT10A):c.327C>T (p.Ser109=) rs754001343 0.00001
NM_025216.3(WNT10A):c.376+9C>T rs762507003 0.00001
NM_025216.3(WNT10A):c.390C>T (p.Ser130=) rs201002930 0.00001
NM_025216.3(WNT10A):c.432C>T (p.Ala144=) rs773640896 0.00001
NM_025216.3(WNT10A):c.489G>A (p.Arg163=) rs1004799015 0.00001
NM_025216.3(WNT10A):c.544C>T (p.Leu182=) rs770264528 0.00001
NM_025216.3(WNT10A):c.558G>A (p.Lys186=) rs370231674 0.00001
NM_025216.3(WNT10A):c.561C>T (p.Gly187=) rs376559137 0.00001
NM_025216.3(WNT10A):c.72G>A (p.Val24=) rs772447299 0.00001
NM_025216.3(WNT10A):c.732T>G (p.Leu244=) rs753071577 0.00001
NM_025216.3(WNT10A):c.756+7G>A rs774151091 0.00001
NM_025216.3(WNT10A):c.771C>T (p.Asn257=) rs1411583565 0.00001
NM_025216.3(WNT10A):c.855C>T (p.Thr285=) rs1387940323 0.00001
NM_025216.3(WNT10A):c.891C>G (p.Ala297=) rs748083299 0.00001
NM_025216.3(WNT10A):c.936G>A (p.Pro312=) rs1008383282 0.00001
NM_025216.3(WNT10A):c.942A>G (p.Pro314=) rs964842903 0.00001
NM_025216.3(WNT10A):c.94C>T (p.Leu32=) rs1422380518 0.00001
NM_025216.3(WNT10A):c.957G>T (p.Ser319=) rs774589067 0.00001
NM_025216.3(WNT10A):c.969C>A (p.Gly323=) rs1472729942 0.00001
NM_052989.3(IFT122):c.1147+10A>T rs750848733 0.00001
NM_052989.3(IFT122):c.1170T>G (p.Leu390=) rs1292603855 0.00001
NM_052989.3(IFT122):c.1467A>G (p.Leu489=) rs373424989 0.00001
NM_052989.3(IFT122):c.1590C>T (p.Ala530=) rs755545448 0.00001
NM_052989.3(IFT122):c.2223T>C (p.Ser741=) rs764418590 0.00001
NM_052989.3(IFT122):c.2298C>T (p.Ala766=) rs1007388408 0.00001
NM_052989.3(IFT122):c.2403C>T (p.Asp801=) rs779236068 0.00001
NM_052989.3(IFT122):c.273-211dup rs1559868678 0.00001
NM_052989.3(IFT122):c.2730G>A (p.Arg910=) rs765560540 0.00001
NM_052989.3(IFT122):c.2941C>T (p.Leu981=) rs1578129875 0.00001
NM_052989.3(IFT122):c.3114T>G (p.Gly1038=) rs769225639 0.00001
NM_052989.3(IFT122):c.3327C>A (p.Ser1109=) rs1464353928 0.00001
NM_052989.3(IFT122):c.3636+9C>T rs765137728 0.00001
NM_052989.3(IFT122):c.416+17C>T rs773053690 0.00001
NM_052989.3(IFT122):c.444G>A (p.Ala148=) rs772967589 0.00001
NM_052989.3(IFT122):c.645T>C (p.Pro215=) rs146397021 0.00001
NM_147127.5(EVC2):c.1006-7C>T rs760800233 0.00001
NM_147127.5(EVC2):c.1035C>G (p.Pro345=) rs1719022666 0.00001
NM_147127.5(EVC2):c.1056T>C (p.Asp352=) rs900466909 0.00001
NM_147127.5(EVC2):c.1062G>A (p.Val354=) rs756157217 0.00001
NM_147127.5(EVC2):c.1107T>C (p.Ser369=) rs776250707 0.00001
NM_147127.5(EVC2):c.1134A>G (p.Gln378=) rs756310412 0.00001
NM_147127.5(EVC2):c.1146-9G>T rs774847750 0.00001
NM_147127.5(EVC2):c.1245C>G (p.Thr415=) rs747208576 0.00001
NM_147127.5(EVC2):c.1380G>C (p.Leu460=) rs1438407396 0.00001
NM_147127.5(EVC2):c.1392G>A (p.Lys464=) rs1362654881 0.00001
NM_147127.5(EVC2):c.1440A>G (p.Ala480=) rs779955202 0.00001
NM_147127.5(EVC2):c.1455A>G (p.Lys485=) rs1371814417 0.00001
NM_147127.5(EVC2):c.1476T>C (p.Ala492=) rs141479252 0.00001
NM_147127.5(EVC2):c.1485C>T (p.Cys495=) rs911180448 0.00001
NM_147127.5(EVC2):c.1542C>T (p.Leu514=) rs376252506 0.00001
NM_147127.5(EVC2):c.1545T>A (p.Ala515=) rs1716570565 0.00001
NM_147127.5(EVC2):c.1584G>A (p.Gln528=) rs1273439269 0.00001
NM_147127.5(EVC2):c.1620C>T (p.Ile540=) rs768068789 0.00001
NM_147127.5(EVC2):c.1650C>T (p.Phe550=) rs765432520 0.00001
NM_147127.5(EVC2):c.1710+10C>T rs779023251 0.00001
NM_147127.5(EVC2):c.171G>T (p.Gly57=) rs1722350740 0.00001
NM_147127.5(EVC2):c.174C>G (p.Pro58=) rs1317163956 0.00001
NM_147127.5(EVC2):c.180G>C (p.Leu60=) rs746557117 0.00001
NM_147127.5(EVC2):c.1827G>A (p.Val609=) rs758243772 0.00001
NM_147127.5(EVC2):c.1881C>T (p.His627=) rs1181526421 0.00001
NM_147127.5(EVC2):c.1897C>T (p.Leu633=) rs755775994 0.00001
NM_147127.5(EVC2):c.1899G>C (p.Leu633=) rs750061407 0.00001
NM_147127.5(EVC2):c.1908C>T (p.Asp636=) rs753259274 0.00001
NM_147127.5(EVC2):c.1923A>G (p.Leu641=) rs1193715900 0.00001
NM_147127.5(EVC2):c.1947C>G (p.Val649=) rs748436461 0.00001
NM_147127.5(EVC2):c.195G>A (p.Gly65=) rs1351285832 0.00001
NM_147127.5(EVC2):c.1974T>C (p.Asn658=) rs146401544 0.00001
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379 0.00001
NM_147127.5(EVC2):c.2026A>C (p.Arg676=) rs922218808 0.00001
NM_147127.5(EVC2):c.2043A>G (p.Gln681=) rs774467445 0.00001
NM_147127.5(EVC2):c.2088C>G (p.Ala696=) rs1460893645 0.00001
NM_147127.5(EVC2):c.2109C>T (p.Ala703=) rs1290218024 0.00001
NM_147127.5(EVC2):c.2169G>A (p.Glu723=) rs1300347009 0.00001
NM_147127.5(EVC2):c.216G>A (p.Glu72=) rs1478999602 0.00001
NM_147127.5(EVC2):c.2172G>T (p.Leu724=) rs546009991 0.00001
NM_147127.5(EVC2):c.2193C>T (p.Ala731=) rs143262952 0.00001
NM_147127.5(EVC2):c.219C>T (p.Ser73=) rs1423567913 0.00001
NM_147127.5(EVC2):c.2226G>A (p.Ser742=) rs1225003407 0.00001
NM_147127.5(EVC2):c.2265G>A (p.Gln755=) rs962222538 0.00001
NM_147127.5(EVC2):c.2274C>T (p.Ala758=) rs1195932614 0.00001
NM_147127.5(EVC2):c.228+10G>T rs1478451043 0.00001
NM_147127.5(EVC2):c.229-7T>G rs763121941 0.00001
NM_147127.5(EVC2):c.2292C>G (p.Leu764=) rs200598574 0.00001
NM_147127.5(EVC2):c.2364C>T (p.Ala788=) rs575617564 0.00001
NM_147127.5(EVC2):c.2376G>A (p.Glu792=) rs752095410 0.00001
NM_147127.5(EVC2):c.2379G>A (p.Gly793=) rs984357172 0.00001
NM_147127.5(EVC2):c.2391C>T (p.Asp797=) rs920334676 0.00001
NM_147127.5(EVC2):c.2607C>G (p.Pro869=) rs752513992 0.00001
NM_147127.5(EVC2):c.2649G>A (p.Ala883=) rs751714104 0.00001
NM_147127.5(EVC2):c.2685C>T (p.Ala895=) rs771623926 0.00001
NM_147127.5(EVC2):c.283+18T>G rs894951363 0.00001
NM_147127.5(EVC2):c.2832T>C (p.Val944=) rs1380334833 0.00001
NM_147127.5(EVC2):c.284-10T>C rs1192584069 0.00001
NM_147127.5(EVC2):c.2925G>A (p.Ala975=) rs760612784 0.00001
NM_147127.5(EVC2):c.2937C>T (p.Thr979=) rs750126669 0.00001
NM_147127.5(EVC2):c.2995C>T (p.Leu999=) rs745415485 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_147127.5(EVC2):c.3039C>T (p.Ile1013=) rs751382770 0.00001
NM_147127.5(EVC2):c.3042G>A (p.Leu1014=) rs775309745 0.00001
NM_147127.5(EVC2):c.3057+13G>T rs770915834 0.00001
NM_147127.5(EVC2):c.3060G>A (p.Glu1020=) rs1284265777 0.00001
NM_147127.5(EVC2):c.3129C>T (p.Ala1043=) rs987312090 0.00001
NM_147127.5(EVC2):c.3159T>C (p.Asp1053=) rs777020546 0.00001
NM_147127.5(EVC2):c.3162G>T (p.Gly1054=) rs777724107 0.00001
NM_147127.5(EVC2):c.3219C>T (p.Val1073=) rs776929675 0.00001
NM_147127.5(EVC2):c.3264T>C (p.His1088=) rs756868538 0.00001
NM_147127.5(EVC2):c.3270G>A (p.Gln1090=) rs754317285 0.00001
NM_147127.5(EVC2):c.3273-7A>T rs1382818953 0.00001
NM_147127.5(EVC2):c.3273-8C>T rs756556239 0.00001
NM_147127.5(EVC2):c.327C>G (p.Val109=) rs1721335332 0.00001
NM_147127.5(EVC2):c.3336C>T (p.Asp1112=) rs746688755 0.00001
NM_147127.5(EVC2):c.3348C>T (p.Thr1116=) rs1451776773 0.00001
NM_147127.5(EVC2):c.3361-4G>T rs1378260553 0.00001
NM_147127.5(EVC2):c.3361-5T>C rs374025466 0.00001
NM_147127.5(EVC2):c.3361-7C>G rs772860972 0.00001
NM_147127.5(EVC2):c.3364C>T (p.Leu1122=) rs1461295651 0.00001
NM_147127.5(EVC2):c.3372G>A (p.Leu1124=) rs778492108 0.00001
NM_147127.5(EVC2):c.3378G>A (p.Ser1126=) rs757807439 0.00001
NM_147127.5(EVC2):c.33G>A (p.Thr11=) rs1202476781 0.00001
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=) rs768312867 0.00001
NM_147127.5(EVC2):c.3426C>T (p.Leu1142=) rs1321179195 0.00001
NM_147127.5(EVC2):c.3447A>C (p.Thr1149=) rs1291370512 0.00001
NM_147127.5(EVC2):c.3531G>A (p.Ala1177=) rs770872108 0.00001
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=) rs373829825 0.00001
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562 0.00001
NM_147127.5(EVC2):c.3557+7G>C rs748684933 0.00001
NM_147127.5(EVC2):c.3557+9C>T rs928653922 0.00001
NM_147127.5(EVC2):c.3609G>C (p.Leu1203=) rs754595798 0.00001
NM_147127.5(EVC2):c.3627A>G (p.Glu1209=) rs374425966 0.00001
NM_147127.5(EVC2):c.3651A>G (p.Arg1217=) rs962774281 0.00001
NM_147127.5(EVC2):c.3654G>A (p.Lys1218=) rs770129558 0.00001
NM_147127.5(EVC2):c.3726A>C (p.Pro1242=) rs767740349 0.00001
NM_147127.5(EVC2):c.372T>C (p.Ala124=) rs753895375 0.00001
NM_147127.5(EVC2):c.3750C>T (p.Gly1250=) rs775355661 0.00001
NM_147127.5(EVC2):c.3759C>T (p.Ala1253=) rs1032044767 0.00001
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=) rs777144379 0.00001
NM_147127.5(EVC2):c.3849C>T (p.Ile1283=) rs371771308 0.00001
NM_147127.5(EVC2):c.3867C>T (p.Pro1289=) rs953355815 0.00001
NM_147127.5(EVC2):c.3924C>T (p.Asp1308=) rs1277969148 0.00001
NM_147127.5(EVC2):c.408G>A (p.Lys136=) rs763680760 0.00001
NM_147127.5(EVC2):c.40C>T (p.Leu14=) rs1722366826 0.00001
NM_147127.5(EVC2):c.411G>A (p.Lys137=) rs762375976 0.00001
NM_147127.5(EVC2):c.429G>A (p.Glu143=) rs754435299 0.00001
NM_147127.5(EVC2):c.451-7del rs1290670058 0.00001
NM_147127.5(EVC2):c.45C>T (p.Ala15=) rs1285560156 0.00001
NM_147127.5(EVC2):c.498A>G (p.Val166=) rs369509893 0.00001
NM_147127.5(EVC2):c.520-7G>T rs1177228956 0.00001
NM_147127.5(EVC2):c.534T>C (p.Ser178=) rs1720948331 0.00001
NM_147127.5(EVC2):c.591A>G (p.Ser197=) rs1720942772 0.00001
NM_147127.5(EVC2):c.612C>T (p.Leu204=) rs1317049169 0.00001
NM_147127.5(EVC2):c.630T>A (p.Ala210=) rs1386228779 0.00001
NM_147127.5(EVC2):c.636C>T (p.Leu212=) rs768639624 0.00001
NM_147127.5(EVC2):c.639C>T (p.Thr213=) rs1323570343 0.00001
NM_147127.5(EVC2):c.681G>A (p.Gln227=) rs997848448 0.00001
NM_147127.5(EVC2):c.706+13C>T rs371526145 0.00001
NM_147127.5(EVC2):c.707-5C>T rs781300676 0.00001
NM_147127.5(EVC2):c.707-8C>G rs746187089 0.00001
NM_147127.5(EVC2):c.741G>A (p.Thr247=) rs772821703 0.00001
NM_147127.5(EVC2):c.759C>T (p.Leu253=) rs746241303 0.00001
NM_147127.5(EVC2):c.78G>A (p.Gly26=) rs1472845952 0.00001
NM_147127.5(EVC2):c.798C>G (p.Thr266=) rs1217997624 0.00001
NM_147127.5(EVC2):c.855A>G (p.Ala285=) rs1277622681 0.00001
NM_147127.5(EVC2):c.870+9C>T rs749270873 0.00001
NM_147127.5(EVC2):c.871-5C>T rs745871266 0.00001
NM_147127.5(EVC2):c.900A>G (p.Ala300=) rs1049760300 0.00001
NM_147127.5(EVC2):c.918C>T (p.Phe306=) rs1382381005 0.00001
NM_147127.5(EVC2):c.921C>T (p.Leu307=) rs1243167455 0.00001
NM_147127.5(EVC2):c.9C>T (p.Pro3=) rs573858756 0.00001
NM_153717.3(EVC):c.100C>T (p.Leu34=) rs1577297567 0.00001
NM_153717.3(EVC):c.1089G>T (p.Leu363=) rs773566770 0.00001
NM_153717.3(EVC):c.1098+9G>A rs1729682283 0.00001
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549 0.00001
NM_153717.3(EVC):c.1125G>A (p.Arg375=) rs372787652 0.00001
NM_153717.3(EVC):c.1149G>A (p.Glu383=) rs1577439692 0.00001
NM_153717.3(EVC):c.117C>T (p.Gly39=) rs1424931005 0.00001
NM_153717.3(EVC):c.1188G>A (p.Arg396=) rs367659093 0.00001
NM_153717.3(EVC):c.1236G>A (p.Lys412=) rs1730618149 0.00001
NM_153717.3(EVC):c.1315+7C>T rs1252318929 0.00001
NM_153717.3(EVC):c.1315+8G>A rs550411377 0.00001
NM_153717.3(EVC):c.1323C>T (p.Val441=) rs201393812 0.00001
NM_153717.3(EVC):c.1461C>T (p.Leu487=) rs1414243707 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1479C>G (p.Val493=) rs751325286 0.00001
NM_153717.3(EVC):c.1560C>T (p.Cys520=) rs764798059 0.00001
NM_153717.3(EVC):c.1563+8G>C rs896046510 0.00001
NM_153717.3(EVC):c.1564-7G>A rs201739032 0.00001
NM_153717.3(EVC):c.1602C>T (p.Phe534=) rs766294209 0.00001
NM_153717.3(EVC):c.1647C>T (p.Leu549=) rs756674302 0.00001
NM_153717.3(EVC):c.1650C>T (p.Pro550=) rs1187336928 0.00001
NM_153717.3(EVC):c.1698C>T (p.Ala566=) rs911132556 0.00001
NM_153717.3(EVC):c.1764G>A (p.Glu588=) rs1736003433 0.00001
NM_153717.3(EVC):c.1777-8G>A rs760016211 0.00001
NM_153717.3(EVC):c.1794T>C (p.Cys598=) rs1162334289 0.00001
NM_153717.3(EVC):c.1806C>T (p.Ser602=) rs749141466 0.00001
NM_153717.3(EVC):c.1836C>T (p.His612=) rs1318231575 0.00001
NM_153717.3(EVC):c.1839G>A (p.Glu613=) rs1419257094 0.00001
NM_153717.3(EVC):c.1845C>A (p.Thr615=) rs1398493743 0.00001
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004 0.00001
NM_153717.3(EVC):c.1886+10G>A rs1194224970 0.00001
NM_153717.3(EVC):c.1911G>T (p.Gly637=) rs746048526 0.00001
NM_153717.3(EVC):c.1924T>C (p.Leu642=) rs1458268098 0.00001
NM_153717.3(EVC):c.1989G>C (p.Arg663=) rs1289387183 0.00001
NM_153717.3(EVC):c.2007C>T (p.His669=) rs1309166734 0.00001
NM_153717.3(EVC):c.2040G>A (p.Leu680=) rs1490178041 0.00001
NM_153717.3(EVC):c.2058G>A (p.Gln686=) rs747533747 0.00001
NM_153717.3(EVC):c.2070G>A (p.Glu690=) rs1288478366 0.00001
NM_153717.3(EVC):c.2088C>T (p.Leu696=) rs761661473 0.00001
NM_153717.3(EVC):c.2098-5C>T rs747808287 0.00001
NM_153717.3(EVC):c.2103G>A (p.Ala701=) rs766383397 0.00001
NM_153717.3(EVC):c.216T>C (p.Asn72=) rs776973612 0.00001
NM_153717.3(EVC):c.2181C>T (p.Ala727=) rs759398050 0.00001
NM_153717.3(EVC):c.2184G>A (p.Glu728=) rs1387569961 0.00001
NM_153717.3(EVC):c.2226C>T (p.Cys742=) rs1174341100 0.00001
NM_153717.3(EVC):c.2250G>A (p.Val750=) rs1577624232 0.00001
NM_153717.3(EVC):c.2304+7A>G rs1714452682 0.00001
NM_153717.3(EVC):c.2313G>A (p.Leu771=) rs756905795 0.00001
NM_153717.3(EVC):c.234A>G (p.Glu78=) rs754706204 0.00001
NM_153717.3(EVC):c.2358C>G (p.Val786=) rs895641001 0.00001
NM_153717.3(EVC):c.2365C>T (p.Leu789=) rs1448746006 0.00001
NM_153717.3(EVC):c.2376G>A (p.Ala792=) rs1005244629 0.00001
NM_153717.3(EVC):c.2406G>A (p.Glu802=) rs747188003 0.00001
NM_153717.3(EVC):c.2430G>A (p.Gln810=) rs370999882 0.00001
NM_153717.3(EVC):c.2450-7G>T rs769527486 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.2562-5C>G rs747812027 0.00001
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160 0.00001
NM_153717.3(EVC):c.2625C>T (p.His875=) rs764729655 0.00001
NM_153717.3(EVC):c.2782+13dup rs770549797 0.00001
NM_153717.3(EVC):c.2782+9C>T rs768005359 0.00001
NM_153717.3(EVC):c.2783-18T>G rs544186339 0.00001
NM_153717.3(EVC):c.2783-8C>T rs905232607 0.00001
NM_153717.3(EVC):c.2790C>T (p.Pro930=) rs747237758 0.00001
NM_153717.3(EVC):c.2949G>A (p.Lys983=) rs760920720 0.00001
NM_153717.3(EVC):c.300+10G>C rs765963247 0.00001
NM_153717.3(EVC):c.301-13C>T rs1478477072 0.00001
NM_153717.3(EVC):c.301-5C>T rs1162511331 0.00001
NM_153717.3(EVC):c.303A>G (p.Glu101=) rs1001609281 0.00001
NM_153717.3(EVC):c.30C>T (p.Ser10=) rs1250304907 0.00001
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424 0.00001
NM_153717.3(EVC):c.343C>T (p.Leu115=) rs755273705 0.00001
NM_153717.3(EVC):c.375G>A (p.Gln125=) rs951334006 0.00001
NM_153717.3(EVC):c.384+9C>T rs1726415422 0.00001
NM_153717.3(EVC):c.385-10G>A rs766423757 0.00001
NM_153717.3(EVC):c.385-5C>T rs897738878 0.00001
NM_153717.3(EVC):c.447A>G (p.Pro149=) rs143250379 0.00001
NM_153717.3(EVC):c.450C>T (p.His150=) rs760527698 0.00001
NM_153717.3(EVC):c.456G>A (p.Pro152=) rs776773987 0.00001
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422 0.00001
NM_153717.3(EVC):c.525A>G (p.Ser175=) rs369785566 0.00001
NM_153717.3(EVC):c.57C>T (p.Asp19=) rs1467149000 0.00001
NM_153717.3(EVC):c.582G>A (p.Arg194=) rs200101865 0.00001
NM_153717.3(EVC):c.617+10G>T rs1175798148 0.00001
NM_153717.3(EVC):c.624C>T (p.Asp208=) rs187457187 0.00001
NM_153717.3(EVC):c.79C>T (p.Leu27=) rs1723000600 0.00001
NM_153717.3(EVC):c.801+9T>C rs775191328 0.00001
NM_153717.3(EVC):c.858G>A (p.Ser286=) rs752988350 0.00001
NM_153717.3(EVC):c.876G>A (p.Glu292=) rs902304992 0.00001
NM_153717.3(EVC):c.882C>T (p.Ile294=) rs375414448 0.00001
NM_153717.3(EVC):c.885C>T (p.Thr295=) rs1481146042 0.00001
NM_153717.3(EVC):c.888G>T (p.Leu296=) rs998975965 0.00001
NM_153717.3(EVC):c.930A>C (p.Leu310=) rs776792609 0.00001
NM_153717.3(EVC):c.940-9A>C rs1241925243 0.00001
NM_153717.3(EVC):c.99G>A (p.Leu33=) rs1723007488 0.00001
NM_198253.3(TERT):c.1032C>G (p.Ser344=) rs367668700 0.00001
NM_198253.3(TERT):c.1032C>T (p.Ser344=) rs367668700 0.00001
NM_198253.3(TERT):c.1041C>G (p.Leu347=) rs1232780244 0.00001
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn) rs1279397908 0.00001
NM_198253.3(TERT):c.1050G>A (p.Leu350=) rs1440641613 0.00001
NM_198253.3(TERT):c.1068C>T (p.Gly356=) rs1224933352 0.00001
NM_198253.3(TERT):c.1128C>G (p.Pro376=) rs1407976533 0.00001
NM_198253.3(TERT):c.1131C>T (p.Arg377=) rs1255789466 0.00001
NM_198253.3(TERT):c.1173C>T (p.Pro391=) rs201505416 0.00001
NM_198253.3(TERT):c.1181T>A (p.Leu394Gln) rs1357160289 0.00001
NM_198253.3(TERT):c.1192G>C (p.Gly398Arg) rs1413910260 0.00001
NM_198253.3(TERT):c.1200C>T (p.His400=) rs755523267 0.00001
NM_198253.3(TERT):c.1209C>T (p.Cys403=) rs1166313699 0.00001
NM_198253.3(TERT):c.1215C>T (p.Tyr405=) rs1416285081 0.00001
NM_198253.3(TERT):c.1236C>T (p.His412=) rs766229902 0.00001
NM_198253.3(TERT):c.1242G>A (p.Pro414=) rs775795705 0.00001
NM_198253.3(TERT):c.1257C>T (p.Val419=) rs1271171667 0.00001
NM_198253.3(TERT):c.1287G>A (p.Glu429=) rs1060504790 0.00001
NM_198253.3(TERT):c.1292C>T (p.Pro431Leu) rs1164823749 0.00001
NM_198253.3(TERT):c.12T>C (p.Ala4=) rs1060504797 0.00001
NM_198253.3(TERT):c.1314C>T (p.Pro438=) rs1246997503 0.00001
NM_198253.3(TERT):c.1323G>T (p.Glu441Asp) rs1213914911 0.00001
NM_198253.3(TERT):c.1339C>T (p.Arg447Cys) rs1304418053 0.00001
NM_198253.3(TERT):c.1351C>T (p.Leu451=) rs752227262 0.00001
NM_198253.3(TERT):c.1356C>T (p.Leu452=) rs1000770517 0.00001
NM_198253.3(TERT):c.1365C>T (p.His455=) rs904892356 0.00001
NM_198253.3(TERT):c.1431C>T (p.Leu477=) rs35459373 0.00001
NM_198253.3(TERT):c.1443G>A (p.Arg481=) rs1373208248 0.00001
NM_198253.3(TERT):c.1462C>T (p.Leu488Phe) rs746216837 0.00001
NM_198253.3(TERT):c.148C>T (p.Leu50=) rs1241180227 0.00001
NM_198253.3(TERT):c.1494G>A (p.Gly498=) rs200369031 0.00001
NM_198253.3(TERT):c.1497G>A (p.Lys499=) rs754473890 0.00001
NM_198253.3(TERT):c.1560G>A (p.Leu520=) rs753991999 0.00001
NM_198253.3(TERT):c.1563C>T (p.Arg521=) rs764171875 0.00001
NM_198253.3(TERT):c.1564A>C (p.Arg522=) rs200864183 0.00001
NM_198253.3(TERT):c.1573+17C>T rs767882579 0.00001
NM_198253.3(TERT):c.1574-20G>T rs1288029076 0.00001
NM_198253.3(TERT):c.1574-8C>T rs957049391 0.00001
NM_198253.3(TERT):c.1665G>A (p.Glu555=) rs1409442770 0.00001
NM_198253.3(TERT):c.1692G>A (p.Thr564=) rs377217777 0.00001
NM_198253.3(TERT):c.1719C>G (p.Leu573=) rs978808687 0.00001
NM_198253.3(TERT):c.171C>T (p.Cys57=) rs1189644919 0.00001
NM_198253.3(TERT):c.1728C>T (p.Tyr576=) rs1554041291 0.00001
NM_198253.3(TERT):c.174G>A (p.Val58=) rs1054748675 0.00001
NM_198253.3(TERT):c.1769+8A>T rs763457117 0.00001
NM_198253.3(TERT):c.1846C>T (p.Leu616=) rs780283430 0.00001
NM_198253.3(TERT):c.1853C>T (p.Thr618Met) rs746434205 0.00001
NM_198253.3(TERT):c.1854G>A (p.Thr618=) rs746040728 0.00001
NM_198253.3(TERT):c.186A>G (p.Ala62=) rs1469467957 0.00001
NM_198253.3(TERT):c.1890G>T (p.Leu630=) rs1749926290 0.00001
NM_198253.3(TERT):c.1896G>A (p.Pro632=) rs140056333 0.00001
NM_198253.3(TERT):c.189G>A (p.Arg63=) rs1554043134 0.00001
NM_198253.3(TERT):c.1914C>T (p.Tyr638=) rs541931572 0.00001
NM_198253.3(TERT):c.1926C>G (p.Ala642=) rs768266882 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.1950+20A>G rs764608907 0.00001
NM_198253.3(TERT):c.1950+7G>A rs756378220 0.00001
NM_198253.3(TERT):c.1951-10del rs1289197000 0.00001
NM_198253.3(TERT):c.1951-11G>A rs1189811983 0.00001
NM_198253.3(TERT):c.1951-18C>T rs1472140487 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.1958G>A (p.Arg653His) rs890242322 0.00001
NM_198253.3(TERT):c.1977G>A (p.Lys659=) rs756706816 0.00001
NM_198253.3(TERT):c.1989C>T (p.Ser663=) rs763907027 0.00001
NM_198253.3(TERT):c.1998C>T (p.Asn666=) rs1165252691 0.00001
NM_198253.3(TERT):c.2013G>T (p.Arg671=) rs34625402 0.00001
NM_198253.3(TERT):c.2015G>A (p.Arg672His) rs1353891039 0.00001
NM_198253.3(TERT):c.2034C>G (p.Ala678=) rs1325340634 0.00001
NM_198253.3(TERT):c.2041C>T (p.Leu681=) rs1310819412 0.00001
NM_198253.3(TERT):c.2073C>T (p.Arg691=) rs1205368239 0.00001
NM_198253.3(TERT):c.2130+15C>T rs774111486 0.00001
NM_198253.3(TERT):c.2130+19C>T rs748903827 0.00001
NM_198253.3(TERT):c.2131-5C>A rs1749799813 0.00001
NM_198253.3(TERT):c.2148G>A (p.Ala716=) rs747654267 0.00001
NM_198253.3(TERT):c.2163C>G (p.Pro721=) rs1455990789 0.00001
NM_198253.3(TERT):c.21C>T (p.Cys7=) rs1447706663 0.00001
NM_198253.3(TERT):c.220-8C>T rs1579598909 0.00001
NM_198253.3(TERT):c.2205C>A (p.Pro735=) rs772650889 0.00001
NM_198253.3(TERT):c.2220C>T (p.Cys740=) rs769553764 0.00001
NM_198253.3(TERT):c.2250C>T (p.Ala750=) rs941567959 0.00001
NM_198253.3(TERT):c.2307C>T (p.Leu769=) rs117662357 0.00001
NM_198253.3(TERT):c.2337C>T (p.His779=) rs747564177 0.00001
NM_198253.3(TERT):c.2343G>A (p.Gln781=) rs758894591 0.00001
NM_198253.3(TERT):c.2355G>A (p.Pro785=) rs545260840 0.00001
NM_198253.3(TERT):c.2367C>T (p.Ala789=) rs759014638 0.00001
NM_198253.3(TERT):c.2376C>T (p.Ile792=) rs769431975 0.00001
NM_198253.3(TERT):c.2379G>A (p.Glu793=) rs1334761065 0.00001
NM_198253.3(TERT):c.2382+20G>C rs886038759 0.00001
NM_198253.3(TERT):c.2383-17C>T rs937340337 0.00001
NM_198253.3(TERT):c.2383-6T>A rs1481236467 0.00001
NM_198253.3(TERT):c.2388C>G (p.Ser796=) rs950145141 0.00001
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn) rs1169312254 0.00001
NM_198253.3(TERT):c.2421C>T (p.Asp807=) rs771997164 0.00001
NM_198253.3(TERT):c.2448C>T (p.His816=) rs368279364 0.00001
NM_198253.3(TERT):c.2465G>A (p.Gly822Asp) rs757820442 0.00001
NM_198253.3(TERT):c.2468+13G>C rs750445028 0.00001
NM_198253.3(TERT):c.2469-12T>C rs753781409 0.00001
NM_198253.3(TERT):c.2469-8C>T rs755942852 0.00001
NM_198253.3(TERT):c.2511C>T (p.Leu837=) rs374940572 0.00001
NM_198253.3(TERT):c.2530C>T (p.Leu844=) rs922798759 0.00001
NM_198253.3(TERT):c.2538C>T (p.Tyr846=) rs778309923 0.00001
NM_198253.3(TERT):c.2553C>T (p.Asn851=) rs1388291484 0.00001
NM_198253.3(TERT):c.2582+7C>A rs766415474 0.00001
NM_198253.3(TERT):c.2583-17A>G rs748792817 0.00001
NM_198253.3(TERT):c.2584C>T (p.Leu862=) rs912022971 0.00001
NM_198253.3(TERT):c.264G>C (p.Leu88=) rs768398792 0.00001
NM_198253.3(TERT):c.2654+14C>T rs754348098 0.00001
NM_198253.3(TERT):c.2654+9C>T rs1060504793 0.00001
NM_198253.3(TERT):c.2655-14C>G rs889404514 0.00001
NM_198253.3(TERT):c.2655-18A>G rs1365689955 0.00001
NM_198253.3(TERT):c.2661G>T (p.Leu887=) rs756519152 0.00001
NM_198253.3(TERT):c.2688C>T (p.Cys896=) rs373952421 0.00001
NM_198253.3(TERT):c.2689G>A (p.Val897Met) rs559028617 0.00001
NM_198253.3(TERT):c.2702G>A (p.Arg901Gln) rs772974254 0.00001
NM_198253.3(TERT):c.2712G>A (p.Val904=) rs1748460219 0.00001
NM_198253.3(TERT):c.2739C>T (p.Ala913=) rs771835512 0.00001
NM_198253.3(TERT):c.2772C>T (p.Ala924=) rs367672336 0.00001
NM_198253.3(TERT):c.2781A>G (p.Leu927=) rs370292237 0.00001
NM_198253.3(TERT):c.2796C>A (p.Gly932=) rs375675196 0.00001
NM_198253.3(TERT):c.2832C>T (p.Ser944=) rs1192852544 0.00001
NM_198253.3(TERT):c.2843+11C>G rs749429123 0.00001
NM_198253.3(TERT):c.2843+9A>G rs1341325168 0.00001
NM_198253.3(TERT):c.2844-10del rs1396877919 0.00001
NM_198253.3(TERT):c.2844-11_2844-10del rs773793700 0.00001
NM_198253.3(TERT):c.2844-14C>G rs763284609 0.00001
NM_198253.3(TERT):c.2844-17T>G rs774231332 0.00001
NM_198253.3(TERT):c.2844-18T>C rs985349437 0.00001
NM_198253.3(TERT):c.2850C>G (p.Ala950=) rs758664162 0.00001
NM_198253.3(TERT):c.2852G>A (p.Arg951Gln) rs755707625 0.00001
NM_198253.3(TERT):c.2868C>T (p.Ala956=) rs752210365 0.00001
NM_198253.3(TERT):c.2971-15T>C rs1297119063 0.00001
NM_198253.3(TERT):c.2971-9C>T rs895340018 0.00001
NM_198253.3(TERT):c.3003C>T (p.Ile1001=) rs1424698843 0.00001
NM_198253.3(TERT):c.3012C>A (p.Ile1004=) rs1308544817 0.00001
NM_198253.3(TERT):c.3018G>C (p.Leu1006=) rs941352340 0.00001
NM_198253.3(TERT):c.3027G>A (p.Ala1009=) rs775582757 0.00001
NM_198253.3(TERT):c.3032+7C>T rs371500615 0.00001
NM_198253.3(TERT):c.3033-12C>T rs779481925 0.00001
NM_198253.3(TERT):c.3033-20G>A rs941286331 0.00001
NM_198253.3(TERT):c.3042A>G (p.Ala1014=) rs1337149388 0.00001
NM_198253.3(TERT):c.3051G>C (p.Leu1017=) rs1297455788 0.00001
NM_198253.3(TERT):c.3097C>T (p.Leu1033=) rs753691323 0.00001
NM_198253.3(TERT):c.3102C>T (p.Arg1034=) rs752939718 0.00001
NM_198253.3(TERT):c.3158-12G>C rs1201971387 0.00001
NM_198253.3(TERT):c.3158-6C>A rs1477263719 0.00001
NM_198253.3(TERT):c.3158-7C>A rs1191106139 0.00001
NM_198253.3(TERT):c.3158-9T>C rs1208337438 0.00001
NM_198253.3(TERT):c.315C>T (p.Asp105=) rs970934345 0.00001
NM_198253.3(TERT):c.3165G>A (p.Ser1055=) rs554739019 0.00001
NM_198253.3(TERT):c.3183C>T (p.Ala1061=) rs769532174 0.00001
NM_198253.3(TERT):c.3210G>A (p.Val1070=) rs962079602 0.00001
NM_198253.3(TERT):c.3252A>G (p.Arg1084=) rs757638312 0.00001
NM_198253.3(TERT):c.3296-8C>A rs745650415 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.330C>T (p.Gly110=) rs778702039 0.00001
NM_198253.3(TERT):c.3314G>A (p.Arg1105Gln) rs532930887 0.00001
NM_198253.3(TERT):c.3378C>T (p.Asp1126=) rs1457310362 0.00001
NM_198253.3(TERT):c.366C>T (p.Tyr122=) rs1272884946 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 0.00001
NM_198253.3(TERT):c.391C>T (p.Leu131=) rs1018793583 0.00001
NM_198253.3(TERT):c.396G>A (p.Arg132=) rs1751252495 0.00001
NM_198253.3(TERT):c.402C>T (p.Ser134=) rs1346841144 0.00001
NM_198253.3(TERT):c.415C>T (p.Leu139=) rs770240505 0.00001
NM_198253.3(TERT):c.421C>T (p.Leu141=) rs775225240 0.00001
NM_198253.3(TERT):c.432G>A (p.Val144=) rs1456482467 0.00001
NM_198253.3(TERT):c.441C>T (p.Asp147=) rs771765361 0.00001
NM_198253.3(TERT):c.444G>C (p.Val148=) rs1314321999 0.00001
NM_198253.3(TERT):c.456G>C (p.Leu152=) rs757121533 0.00001
NM_198253.3(TERT):c.474C>A (p.Leu158=) rs752933900 0.00001
NM_198253.3(TERT):c.481C>T (p.Leu161=) rs368291455 0.00001
NM_198253.3(TERT):c.483G>A (p.Leu161=) rs755155708 0.00001
NM_198253.3(TERT):c.492C>T (p.Pro164=) rs751568040 0.00001
NM_198253.3(TERT):c.513C>T (p.Cys171=) rs890346822 0.00001
NM_198253.3(TERT):c.519G>A (p.Pro173=) rs763396974 0.00001
NM_198253.3(TERT):c.522G>T (p.Pro174=) rs773784305 0.00001
NM_198253.3(TERT):c.552C>T (p.Ala184=) rs1751235353 0.00001
NM_198253.3(TERT):c.554G>T (p.Arg185Leu) rs749187042 0.00001
NM_198253.3(TERT):c.566A>G (p.His189Arg) rs769638625 0.00001
NM_198253.3(TERT):c.567C>T (p.His189=) rs747935528 0.00001
NM_198253.3(TERT):c.583A>C (p.Arg195=) rs1579598197 0.00001
NM_198253.3(TERT):c.615T>C (p.His205=) rs1380279487 0.00001
NM_198253.3(TERT):c.630C>T (p.Ala210=) rs1164854748 0.00001
NM_198253.3(TERT):c.633G>T (p.Gly211=) rs1060504794 0.00001
NM_198253.3(TERT):c.684C>T (p.Ala228=) rs1403152390 0.00001
NM_198253.3(TERT):c.699G>A (p.Pro233=) rs757862712 0.00001
NM_198253.3(TERT):c.702G>C (p.Leu234Phe) rs754359147 0.00001
NM_198253.3(TERT):c.705C>A (p.Pro235=) rs1751214858 0.00001
NM_198253.3(TERT):c.719G>A (p.Arg240His) rs751231538 0.00001
NM_198253.3(TERT):c.728C>T (p.Ala243Val) rs1346044973 0.00001
NM_198253.3(TERT):c.729C>T (p.Ala243=) rs762491880 0.00001
NM_198253.3(TERT):c.762G>A (p.Gly254=) rs768389892 0.00001
NM_198253.3(TERT):c.77C>T (p.Thr26Met) rs760727529 0.00001
NM_198253.3(TERT):c.802C>T (p.Arg268Cys) rs749827230 0.00001
NM_198253.3(TERT):c.825T>G (p.Pro275=) rs1469166190 0.00001
NM_198253.3(TERT):c.833C>T (p.Pro278Leu) rs1474106264 0.00001
NM_198253.3(TERT):c.837C>T (p.Ala279=) rs1448995569 0.00001
NM_198253.3(TERT):c.846C>T (p.Ala282=) rs764061395 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.900C>T (p.Gly300=) rs987435263 0.00001
NM_198253.3(TERT):c.918C>A (p.Gly306=) rs919921930 0.00001
NM_198253.3(TERT):c.965C>T (p.Pro322Leu) rs1438162956 0.00001
NM_198253.3(TERT):c.972G>A (p.Val324=) rs1444231737 0.00001
NM_198253.3(TERT):c.975C>T (p.Tyr325=) rs774784101 0.00001
NM_198253.3(TERT):c.978C>G (p.Ala326=) rs1435076658 0.00001
NM_198253.3(TERT):c.978C>T (p.Ala326=) rs1435076658 0.00001
NC_000005.10:g.1297372_1297373delinsAT rs2126700862
NC_000016.10:g.67660278C>G
NC_000016.10:g.67660284T>C rs2142976427
NC_000016.10:g.67660296A>G rs2052981802
NC_000016.10:g.67660322G>T rs773291286
NC_000016.10:g.67660326G>A
NC_000016.10:g.67660329G>T
NC_000016.10:g.67660332G>A
NC_000016.10:g.67660341A>G
NC_000016.10:g.67660344T>A rs1567643005
NC_000016.10:g.67660347A>G
NC_000016.10:g.67660356C>T rs974748354
NC_000016.10:g.67660371T>C
NC_000016.10:g.67660377T>C
NC_000016.10:g.67660383G>A
NC_000016.10:g.67660383G>C rs574891736
NC_000016.10:g.67660383G>T rs574891736
NC_000016.10:g.67660389G>A rs2052986707
NC_000016.10:g.67660392C>T rs1295714510
NC_000016.10:g.67660398C>G
NC_000016.10:g.67660410C>G
NC_000016.10:g.67660410C>T rs554258142
NC_000016.10:g.67660413C>G rs766076324
NC_000016.10:g.67660413C>T
NC_000016.10:g.67660419T>G
NM_000165.5(GJA1):c.103C>T (p.Leu35=)
NM_000165.5(GJA1):c.1056A>G (p.Glu352=)
NM_000165.5(GJA1):c.105G>A (p.Leu35=)
NM_000165.5(GJA1):c.1146C>T (p.Ile382=)
NM_000165.5(GJA1):c.180T>C (p.Gly60=)
NM_000165.5(GJA1):c.204G>A (p.Lys68=)
NM_000165.5(GJA1):c.219T>C (p.Ser73=)
NM_000165.5(GJA1):c.249A>T (p.Ile83=)
NM_000165.5(GJA1):c.264C>T (p.Pro88=)
NM_000165.5(GJA1):c.270C>G (p.Leu90=) rs886061009
NM_000165.5(GJA1):c.330G>A (p.Glu110=)
NM_000165.5(GJA1):c.357T>C (p.Asp119=) rs1773903093
NM_000165.5(GJA1):c.366T>C (p.Asn122=) rs2114283391
NM_000165.5(GJA1):c.369G>T (p.Val123=)
NM_000165.5(GJA1):c.393G>A (p.Glu131=)
NM_000165.5(GJA1):c.450G>T (p.Gly150=) rs752221637
NM_000165.5(GJA1):c.489T>A (p.Ser163=)
NM_000165.5(GJA1):c.492C>T (p.Ile164=)
NM_000165.5(GJA1):c.501G>A (p.Val167=)
NM_000165.5(GJA1):c.528C>A (p.Ile176=)
NM_000165.5(GJA1):c.606C>A (p.Arg202=)
NM_000165.5(GJA1):c.633C>T (p.Ile211=) rs2114283896
NM_000165.5(GJA1):c.645G>A (p.Val215=)
NM_000165.5(GJA1):c.651C>A (p.Ser217=)
NM_000165.5(GJA1):c.654G>A (p.Leu218=)
NM_000165.5(GJA1):c.669G>A (p.Leu223=)
NM_000165.5(GJA1):c.6T>C (p.Gly2=)
NM_000165.5(GJA1):c.717G>C (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.735C>T (p.Asp245=) rs779133243
NM_000165.5(GJA1):c.747G>A (p.Ala249=)
NM_000165.5(GJA1):c.747G>C (p.Ala249=)
NM_000165.5(GJA1):c.759G>T (p.Ala253=)
NM_000165.5(GJA1):c.81A>G (p.Ser27=)
NM_000165.5(GJA1):c.831C>T (p.Pro277=)
NM_000165.5(GJA1):c.837G>T (p.Ser279=)
NM_000165.5(GJA1):c.852T>G (p.Pro284=)
NM_000165.5(GJA1):c.867T>A (p.Val289=)
NM_000165.5(GJA1):c.906C>T (p.Asn302=)
NM_000165.5(GJA1):c.927C>T (p.Asn309=)
NM_000165.5(GJA1):c.942T>C (p.Ser314=)
NM_000165.5(GJA1):c.954T>C (p.Asn318=)
NM_000165.5(GJA1):c.969G>A (p.Ala323=)
NM_001082486.2(ACD):c.-13T>G
NM_001082486.2(ACD):c.-16G>C
NM_001082486.2(ACD):c.-19G>T
NM_001082486.2(ACD):c.-31C>A rs775903443
NM_001082486.2(ACD):c.-31C>T
NM_001082486.2(ACD):c.-34G>C
NM_001082486.2(ACD):c.100-12C>T
NM_001082486.2(ACD):c.100-15G>A
NM_001082486.2(ACD):c.100-15G>C
NM_001082486.2(ACD):c.100-15G>T rs747553547
NM_001082486.2(ACD):c.100-16C>T
NM_001082486.2(ACD):c.100-19C>T
NM_001082486.2(ACD):c.100-6C>T rs1597774112
NM_001082486.2(ACD):c.100-9C>T
NM_001082486.2(ACD):c.1026G>A (p.Gln342=)
NM_001082486.2(ACD):c.1035T>C (p.Thr345=)
NM_001082486.2(ACD):c.1038C>T (p.Pro346=)
NM_001082486.2(ACD):c.1050C>A (p.Pro350=)
NM_001082486.2(ACD):c.1056C>T (p.Ser352=)
NM_001082486.2(ACD):c.1071A>C (p.Pro357=)
NM_001082486.2(ACD):c.1074C>T (p.His358=)
NM_001082486.2(ACD):c.1080T>C (p.Ala360=)
NM_001082486.2(ACD):c.1089C>T (p.Thr363=)
NM_001082486.2(ACD):c.1108C>T (p.Leu370=)
NM_001082486.2(ACD):c.1119G>A (p.Lys373=)
NM_001082486.2(ACD):c.1137C>T (p.Pro379=)
NM_001082486.2(ACD):c.114C>T (p.Ala38=) rs756189227
NM_001082486.2(ACD):c.117G>A (p.Glu39=)
NM_001082486.2(ACD):c.1206+10G>C
NM_001082486.2(ACD):c.1206+10del rs2052907559
NM_001082486.2(ACD):c.1206+13C>T
NM_001082486.2(ACD):c.1206+15T>G
NM_001082486.2(ACD):c.1206+18G>A
NM_001082486.2(ACD):c.1206+8T>C
NM_001082486.2(ACD):c.1207-18A>G
NM_001082486.2(ACD):c.1224T>C (p.His408=)
NM_001082486.2(ACD):c.123G>C (p.Ala41=)
NM_001082486.2(ACD):c.1293T>C (p.Ala431=) rs1597767407
NM_001082486.2(ACD):c.1298+17G>A
NM_001082486.2(ACD):c.1298+9C>T rs776494951
NM_001082486.2(ACD):c.1299-14T>C rs1413270785
NM_001082486.2(ACD):c.1299-17C>T
NM_001082486.2(ACD):c.1299-19A>G
NM_001082486.2(ACD):c.1299-4C>T rs1597767023
NM_001082486.2(ACD):c.1308C>T (p.Pro436=)
NM_001082486.2(ACD):c.1332C>T (p.His444=)
NM_001082486.2(ACD):c.1347A>C (p.Ala449=)
NM_001082486.2(ACD):c.1356G>A (p.Gly452=)
NM_001082486.2(ACD):c.1359T>C (p.Ser453=)
NM_001082486.2(ACD):c.1371G>A (p.Pro457=)
NM_001082486.2(ACD):c.144C>G (p.Ala48=)
NM_001082486.2(ACD):c.150T>C (p.Asp50=)
NM_001082486.2(ACD):c.162C>G (p.Val54=)
NM_001082486.2(ACD):c.174G>A (p.Leu58=) rs768395580
NM_001082486.2(ACD):c.174G>T (p.Leu58=)
NM_001082486.2(ACD):c.189G>C (p.Gly63=)
NM_001082486.2(ACD):c.18G>A (p.Arg6=) rs779383442
NM_001082486.2(ACD):c.192C>T (p.Thr64=)
NM_001082486.2(ACD):c.198T>C (p.Ser66=)
NM_001082486.2(ACD):c.201C>T (p.Val67=) rs1428575354
NM_001082486.2(ACD):c.207C>T (p.Cys69=)
NM_001082486.2(ACD):c.243-13C>T
NM_001082486.2(ACD):c.243-14C>G rs531965174
NM_001082486.2(ACD):c.243-14C>T
NM_001082486.2(ACD):c.258C>T (p.Phe86=)
NM_001082486.2(ACD):c.267C>G (p.Arg89=)
NM_001082486.2(ACD):c.270G>T (p.Gly90=)
NM_001082486.2(ACD):c.283C>T (p.Leu95=) rs2142974673
NM_001082486.2(ACD):c.28C>A (p.Arg10=)
NM_001082486.2(ACD):c.303C>T (p.Cys101=) rs2142974629
NM_001082486.2(ACD):c.330C>A (p.Gly110=) rs1214995325
NM_001082486.2(ACD):c.330C>T (p.Gly110=)
NM_001082486.2(ACD):c.336+8G>A
NM_001082486.2(ACD):c.336+8G>T
NM_001082486.2(ACD):c.337-12G>A rs1021416366
NM_001082486.2(ACD):c.337-14C>G
NM_001082486.2(ACD):c.337-16C>G
NM_001082486.2(ACD):c.337-17C>T rs1186068061
NM_001082486.2(ACD):c.337-20T>G rs1567641944
NM_001082486.2(ACD):c.337-5_337-3del
NM_001082486.2(ACD):c.394C>A (p.Arg132=) rs2052957232
NM_001082486.2(ACD):c.405G>A (p.Val135=)
NM_001082486.2(ACD):c.413+11C>T
NM_001082486.2(ACD):c.413+7G>A rs1017802690
NM_001082486.2(ACD):c.413+9T>A
NM_001082486.2(ACD):c.414-16C>A rs1363142172
NM_001082486.2(ACD):c.414-17C>G rs1291861643
NM_001082486.2(ACD):c.414-7T>C
NM_001082486.2(ACD):c.414-9T>G
NM_001082486.2(ACD):c.458+20C>T
NM_001082486.2(ACD):c.459-12C>G
NM_001082486.2(ACD):c.459-14C>T rs2142972775
NM_001082486.2(ACD):c.459-16C>T rs1422483519
NM_001082486.2(ACD):c.459-4G>A
NM_001082486.2(ACD):c.459-4G>T
NM_001082486.2(ACD):c.459-5T>C rs367821436
NM_001082486.2(ACD):c.483G>A (p.Ser161=)
NM_001082486.2(ACD):c.493+10A>C
NM_001082486.2(ACD):c.493+16A>G
NM_001082486.2(ACD):c.493+19A>G
NM_001082486.2(ACD):c.494-19C>T rs749224903
NM_001082486.2(ACD):c.495C>T (p.Gly165=)
NM_001082486.2(ACD):c.504G>C (p.Leu168=)
NM_001082486.2(ACD):c.513T>C (p.Leu171=)
NM_001082486.2(ACD):c.516G>C (p.Leu172=)
NM_001082486.2(ACD):c.555C>G (p.Leu185=)
NM_001082486.2(ACD):c.558G>A (p.Val186=)
NM_001082486.2(ACD):c.564G>A (p.Leu188=)
NM_001082486.2(ACD):c.576C>T (p.Cys192=)
NM_001082486.2(ACD):c.579G>C (p.Leu193=)
NM_001082486.2(ACD):c.583C>T (p.Leu195=) rs2142971297
NM_001082486.2(ACD):c.585G>A (p.Leu195=)
NM_001082486.2(ACD):c.591C>T (p.Gly197=)
NM_001082486.2(ACD):c.612C>T (p.Val204=)
NM_001082486.2(ACD):c.627C>A (p.Ala209=)
NM_001082486.2(ACD):c.645+16T>C
NM_001082486.2(ACD):c.645+16T>G
NM_001082486.2(ACD):c.645+7C>G
NM_001082486.2(ACD):c.646-11A>G
NM_001082486.2(ACD):c.646-6C>T
NM_001082486.2(ACD):c.666C>A (p.Val222=)
NM_001082486.2(ACD):c.687C>T (p.Ile229=)
NM_001082486.2(ACD):c.723C>T (p.Gly241=) rs757919779
NM_001082486.2(ACD):c.743-13C>T
NM_001082486.2(ACD):c.743-6C>T
NM_001082486.2(ACD):c.743-7C>A rs541174802
NM_001082486.2(ACD):c.759A>G (p.Pro253=)
NM_001082486.2(ACD):c.765C>T (p.Asp255=)
NM_001082486.2(ACD):c.781C>T (p.Leu261=) rs760404492
NM_001082486.2(ACD):c.789G>C (p.Leu263=)
NM_001082486.2(ACD):c.79C>A (p.Arg27=)
NM_001082486.2(ACD):c.813C>T (p.Ser271=) rs878924464
NM_001082486.2(ACD):c.825C>T (p.Ser275=) rs747335465
NM_001082486.2(ACD):c.830-11C>T
NM_001082486.2(ACD):c.830-12C>A
NM_001082486.2(ACD):c.830-13C>A
NM_001082486.2(ACD):c.830-14C>T rs2142968964
NM_001082486.2(ACD):c.830-5C>T
NM_001082486.2(ACD):c.830-9C>T
NM_001082486.2(ACD):c.861C>G (p.Ser287=) rs751515020
NM_001082486.2(ACD):c.870T>C (p.Ser290=)
NM_001082486.2(ACD):c.879C>T (p.Ser293=)
NM_001082486.2(ACD):c.891G>C (p.Leu297=) rs1459307216
NM_001082486.2(ACD):c.894T>A (p.Pro298=) rs773774371
NM_001082486.2(ACD):c.903C>G (p.Ser301=)
NM_001082486.2(ACD):c.903C>T (p.Ser301=)
NM_001082486.2(ACD):c.939C>G (p.Ser313=) rs1368630251
NM_001082486.2(ACD):c.975C>T (p.Thr325=)
NM_001082486.2(ACD):c.981C>T (p.Thr327=)
NM_001082486.2(ACD):c.99+19C>T
NM_001082486.2(ACD):c.99+9C>T
NM_001082486.2(ACD):c.996C>T (p.His332=)
NM_001082486.2(ACD):c.9T>G (p.Gly3=) rs2142976114
NM_001099274.3(TINF2):c.1011A>T (p.Gly337=)
NM_001099274.3(TINF2):c.1035T>C (p.Val345=)
NM_001099274.3(TINF2):c.1047C>T (p.Ala349=)
NM_001099274.3(TINF2):c.1061+14A>G rs1040503982
NM_001099274.3(TINF2):c.1061+8_1061+9del
NM_001099274.3(TINF2):c.1062-14_1062-11del rs2138996774
NM_001099274.3(TINF2):c.1062-19_1062-18del
NM_001099274.3(TINF2):c.1062-4T>G rs769661599
NM_001099274.3(TINF2):c.1130-11C>T
NM_001099274.3(TINF2):c.1130-15G>A
NM_001099274.3(TINF2):c.1130-7C>T
NM_001099274.3(TINF2):c.1164C>T (p.Thr388=)
NM_001099274.3(TINF2):c.1185C>T (p.Asp395=)
NM_001099274.3(TINF2):c.1188T>C (p.Ser396=) rs2040535359
NM_001099274.3(TINF2):c.1197A>G (p.Glu399=)
NM_001099274.3(TINF2):c.120T>C (p.Ser40=)
NM_001099274.3(TINF2):c.1221+11del
NM_001099274.3(TINF2):c.1221+14A>C rs776525717
NM_001099274.3(TINF2):c.1221+15G>A
NM_001099274.3(TINF2):c.1222-11del rs746206409
NM_001099274.3(TINF2):c.1222-19C>G
NM_001099274.3(TINF2):c.1222-4A>T rs2138994887
NM_001099274.3(TINF2):c.1224A>G (p.Glu408=)
NM_001099274.3(TINF2):c.1227T>C (p.Ser409=)
NM_001099274.3(TINF2):c.1269C>A (p.Pro423=) rs777077289
NM_001099274.3(TINF2):c.1269C>T (p.Pro423=) rs777077289
NM_001099274.3(TINF2):c.126C>T (p.Arg42=)
NM_001099274.3(TINF2):c.1281A>G (p.Glu427=) rs2040528048
NM_001099274.3(TINF2):c.1284C>T (p.Tyr428=)
NM_001099274.3(TINF2):c.1285C>T (p.Leu429=) rs780647966
NM_001099274.3(TINF2):c.1290C>A (p.Pro430=) rs201083863
NM_001099274.3(TINF2):c.1308C>T (p.Ala436=)
NM_001099274.3(TINF2):c.1329C>T (p.Asp443=)
NM_001099274.3(TINF2):c.138T>C (p.Pro46=)
NM_001099274.3(TINF2):c.192+13G>A rs1566369386
NM_001099274.3(TINF2):c.192+9G>A
NM_001099274.3(TINF2):c.193-7C>T
NM_001099274.3(TINF2):c.240G>A (p.Leu80=)
NM_001099274.3(TINF2):c.240G>C (p.Leu80=)
NM_001099274.3(TINF2):c.261T>C (p.Phe87=)
NM_001099274.3(TINF2):c.27C>T (p.Pro9=)
NM_001099274.3(TINF2):c.294G>A (p.Lys98=) rs1594555123
NM_001099274.3(TINF2):c.297+10C>T rs775877509
NM_001099274.3(TINF2):c.297+13C>T
NM_001099274.3(TINF2):c.297+14G>A
NM_001099274.3(TINF2):c.297+18C>A
NM_001099274.3(TINF2):c.297+18C>G
NM_001099274.3(TINF2):c.298-10T>A rs1317116989
NM_001099274.3(TINF2):c.298-15C>T
NM_001099274.3(TINF2):c.298-19T>C
NM_001099274.3(TINF2):c.378G>A (p.Val126=)
NM_001099274.3(TINF2):c.393G>A (p.Lys131=) rs1373380506
NM_001099274.3(TINF2):c.394C>T (p.Leu132=)
NM_001099274.3(TINF2):c.399+8T>C
NM_001099274.3(TINF2):c.399+9G>C
NM_001099274.3(TINF2):c.400-10C>T rs2139001198
NM_001099274.3(TINF2):c.400-11C>G
NM_001099274.3(TINF2):c.400-12C>T
NM_001099274.3(TINF2):c.400-17A>C rs1182153400
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.400-6C>T
NM_001099274.3(TINF2):c.414G>A (p.Glu138=)
NM_001099274.3(TINF2):c.447G>A (p.Lys149=) rs2040574153
NM_001099274.3(TINF2):c.450G>C (p.Leu150=)
NM_001099274.3(TINF2):c.459G>A (p.Glu153=)
NM_001099274.3(TINF2):c.45C>G (p.Ala15=) rs750285418
NM_001099274.3(TINF2):c.495G>A (p.Pro165=)
NM_001099274.3(TINF2):c.507+13del rs780404631
NM_001099274.3(TINF2):c.507+20T>C
NM_001099274.3(TINF2):c.508-10C>T
NM_001099274.3(TINF2):c.508-15T>C rs2139000398
NM_001099274.3(TINF2):c.508-18C>T rs780585800
NM_001099274.3(TINF2):c.525T>C (p.Ser175=)
NM_001099274.3(TINF2):c.555T>C (p.Ser185=)
NM_001099274.3(TINF2):c.564C>G (p.Ala188=)
NM_001099274.3(TINF2):c.597G>A (p.Leu199=)
NM_001099274.3(TINF2):c.604+10A>G
NM_001099274.3(TINF2):c.604+13T>C
NM_001099274.3(TINF2):c.604+15G>A
NM_001099274.3(TINF2):c.605-17C>T
NM_001099274.3(TINF2):c.605-20G>A
NM_001099274.3(TINF2):c.631C>T (p.Leu211=)
NM_001099274.3(TINF2):c.63G>A (p.Gln21=)
NM_001099274.3(TINF2):c.678A>G (p.Ala226=)
NM_001099274.3(TINF2):c.714A>T (p.Thr238=)
NM_001099274.3(TINF2):c.747C>T (p.His249=)
NM_001099274.3(TINF2):c.789A>T (p.Leu263=)
NM_001099274.3(TINF2):c.813A>G (p.Gln271=)
NM_001099274.3(TINF2):c.831A>G (p.Gly277=)
NM_001099274.3(TINF2):c.837T>C (p.His279=)
NM_001099274.3(TINF2):c.867C>T (p.Pro289=)
NM_001099274.3(TINF2):c.885A>G (p.Ser295=)
NM_001099274.3(TINF2):c.891C>G (p.Thr297=)
NM_001099274.3(TINF2):c.948A>G (p.Leu316=)
NM_001099274.3(TINF2):c.984T>C (p.Ser328=) rs751773020
NM_001099274.3(TINF2):c.9G>A (p.Thr3=) rs748683638
NM_001099274.3(TINF2):c.9G>C (p.Thr3=)
NM_001110219.3(GJB6):c.129G>A (p.Val43=)
NM_001110219.3(GJB6):c.138C>T (p.Asp46=)
NM_001110219.3(GJB6):c.153C>T (p.Phe51=)
NM_001110219.3(GJB6):c.168G>A (p.Leu56=)
NM_001110219.3(GJB6):c.16C>T (p.Leu6=)
NM_001110219.3(GJB6):c.186T>C (p.Asn62=)
NM_001110219.3(GJB6):c.27C>T (p.Phe9=)
NM_001110219.3(GJB6):c.306C>G (p.Thr102=)
NM_001110219.3(GJB6):c.315G>A (p.Lys105=)
NM_001110219.3(GJB6):c.357G>A (p.Glu119=)
NM_001110219.3(GJB6):c.513T>A (p.Ile171=)
NM_001110219.3(GJB6):c.711G>A (p.Lys237=)
NM_001110219.3(GJB6):c.723G>A (p.Gln241=) rs556168075
NM_001283009.2(RTEL1):c.1002G>T (p.Leu334=) rs1555902826
NM_001283009.2(RTEL1):c.1008A>G (p.Gly336=) rs2090399354
NM_001283009.2(RTEL1):c.1014C>T (p.Asp338=) rs2146211321
NM_001283009.2(RTEL1):c.102+12G>A
NM_001283009.2(RTEL1):c.102+13C>T rs757731065
NM_001283009.2(RTEL1):c.102+14C>G
NM_001283009.2(RTEL1):c.102+15C>G
NM_001283009.2(RTEL1):c.102+16C>T
NM_001283009.2(RTEL1):c.102+17G>A
NM_001283009.2(RTEL1):c.102+17G>C rs1305231385
NM_001283009.2(RTEL1):c.102+17G>T
NM_001283009.2(RTEL1):c.102+17_102+18insTG rs757708000
NM_001283009.2(RTEL1):c.102+20G>A
NM_001283009.2(RTEL1):c.102+3AG[3] rs1555899112
NM_001283009.2(RTEL1):c.102+7C>T
NM_001283009.2(RTEL1):c.102+9C>G rs760616462
NM_001283009.2(RTEL1):c.1023C>T (p.Val341=) rs1251256275
NM_001283009.2(RTEL1):c.1026C>T (p.Thr342=) rs1420671075
NM_001283009.2(RTEL1):c.1029G>A (p.Lys343=)
NM_001283009.2(RTEL1):c.103-12_103-6dup
NM_001283009.2(RTEL1):c.103-14C>T
NM_001283009.2(RTEL1):c.103-15C>G rs1292134264
NM_001283009.2(RTEL1):c.103-15C>T rs1292134264
NM_001283009.2(RTEL1):c.103-16T>C
NM_001283009.2(RTEL1):c.103-7C>G
NM_001283009.2(RTEL1):c.103-7del
NM_001283009.2(RTEL1):c.103-8C>T rs1357456579
NM_001283009.2(RTEL1):c.103-9T>C rs2146148418
NM_001283009.2(RTEL1):c.1037+11G>C
NM_001283009.2(RTEL1):c.1037+13G>A
NM_001283009.2(RTEL1):c.1037+17C>T
NM_001283009.2(RTEL1):c.1037+18A>G
NM_001283009.2(RTEL1):c.1037+19G>A
NM_001283009.2(RTEL1):c.1037+20C>G rs2146211496
NM_001283009.2(RTEL1):c.1037+7G>A
NM_001283009.2(RTEL1):c.1037+8G>A
NM_001283009.2(RTEL1):c.1037+9C>A
NM_001283009.2(RTEL1):c.1037+9C>T
NM_001283009.2(RTEL1):c.1038-11C>G
NM_001283009.2(RTEL1):c.1038-11C>T rs2146217189
NM_001283009.2(RTEL1):c.1038-13T>C rs2146217181
NM_001283009.2(RTEL1):c.1038-16_1038-15delinsGC rs2146217150
NM_001283009.2(RTEL1):c.1038-16_1038-15insG
NM_001283009.2(RTEL1):c.1038-19G>A
NM_001283009.2(RTEL1):c.1038-8_1038-6del rs1267375602
NM_001283009.2(RTEL1):c.1038-9C>T
NM_001283009.2(RTEL1):c.1041C>T (p.Tyr347=) rs2090446510
NM_001283009.2(RTEL1):c.1044C>T (p.Ile348=)
NM_001283009.2(RTEL1):c.1047T>C (p.Phe349=)
NM_001283009.2(RTEL1):c.1050G>A (p.Glu350=)
NM_001283009.2(RTEL1):c.1056T>C (p.Phe352=) rs2146217252
NM_001283009.2(RTEL1):c.1074G>A (p.Thr358=) rs375256851
NM_001283009.2(RTEL1):c.1083C>G (p.Thr361=)
NM_001283009.2(RTEL1):c.1089C>T (p.Gly363=) rs1601138671
NM_001283009.2(RTEL1):c.1092C>T (p.Cys364=)
NM_001283009.2(RTEL1):c.1096C>T (p.Leu366=) rs1195979662
NM_001283009.2(RTEL1):c.1101C>T (p.Asp367=)
NM_001283009.2(RTEL1):c.1107G>A (p.Leu369=) rs1601138735
NM_001283009.2(RTEL1):c.1110C>T (p.Asp370=) rs2090447523
NM_001283009.2(RTEL1):c.1119C>T (p.Ile373=) rs2146217386
NM_001283009.2(RTEL1):c.1125C>T (p.His375=) rs2090447629
NM_001283009.2(RTEL1):c.1128G>A (p.Leu376=)
NM_001283009.2(RTEL1):c.1135+10G>A rs754588541
NM_001283009.2(RTEL1):c.1135+11G>A
NM_001283009.2(RTEL1):c.1135+12_1135+17dup rs2146217458
NM_001283009.2(RTEL1):c.1135+17G>A
NM_001283009.2(RTEL1):c.1135+20C>G
NM_001283009.2(RTEL1):c.1135+7G>A
NM_001283009.2(RTEL1):c.1135+8C>T rs751931589
NM_001283009.2(RTEL1):c.1135+9T>A rs1250696685
NM_001283009.2(RTEL1):c.1135+9T>C
NM_001283009.2(RTEL1):c.1136-10T>C rs1430364226
NM_001283009.2(RTEL1):c.1136-11C>T rs748816887
NM_001283009.2(RTEL1):c.1136-12G>C
NM_001283009.2(RTEL1):c.1136-17G>A
NM_001283009.2(RTEL1):c.1136-19G>A
NM_001283009.2(RTEL1):c.1136-4C>T
NM_001283009.2(RTEL1):c.1136-5T>A
NM_001283009.2(RTEL1):c.1136-5T>C
NM_001283009.2(RTEL1):c.1136-7C>T
NM_001283009.2(RTEL1):c.1136-8C>T
NM_001283009.2(RTEL1):c.1136-9G>T
NM_001283009.2(RTEL1):c.1137T>C (p.Arg379=)
NM_001283009.2(RTEL1):c.1143A>G (p.Gly381=)
NM_001283009.2(RTEL1):c.1149C>T (p.Phe383=)
NM_001283009.2(RTEL1):c.1152C>T (p.Thr384=)
NM_001283009.2(RTEL1):c.1167G>A (p.Leu389=)
NM_001283009.2(RTEL1):c.1174C>T (p.Leu392=)
NM_001283009.2(RTEL1):c.1176G>A (p.Leu392=) rs2090461502
NM_001283009.2(RTEL1):c.1182C>T (p.Asp394=)
NM_001283009.2(RTEL1):c.1191+10G>C rs2146220136
NM_001283009.2(RTEL1):c.1191+13C>T
NM_001283009.2(RTEL1):c.1191+14C>T
NM_001283009.2(RTEL1):c.1191+8C>T rs767844458
NM_001283009.2(RTEL1):c.1191+9T>C
NM_001283009.2(RTEL1):c.1191+9dup rs2146220115
NM_001283009.2(RTEL1):c.1192-11C>A
NM_001283009.2(RTEL1):c.1192-13C>G
NM_001283009.2(RTEL1):c.1192-13C>T rs200449854
NM_001283009.2(RTEL1):c.1192-14C>T
NM_001283009.2(RTEL1):c.1192-17C>A
NM_001283009.2(RTEL1):c.1192-17C>T
NM_001283009.2(RTEL1):c.1192-19C>T
NM_001283009.2(RTEL1):c.1192-7C>T
NM_001283009.2(RTEL1):c.1192-8C>T
NM_001283009.2(RTEL1):c.1203T>C (p.Ser401=) rs2145411213
NM_001283009.2(RTEL1):c.1206G>T (p.Val402=) rs2145411236
NM_001283009.2(RTEL1):c.120G>A (p.Leu40=) rs1555899465
NM_001283009.2(RTEL1):c.1212C>T (p.Pro404=)
NM_001283009.2(RTEL1):c.1233C>T (p.Ser411=)
NM_001283009.2(RTEL1):c.1242G>T (p.Gly414=)
NM_001283009.2(RTEL1):c.1248G>A (p.Gly416=)
NM_001283009.2(RTEL1):c.1252T>C (p.Leu418=)
NM_001283009.2(RTEL1):c.1257G>A (p.Gln419=) rs2145411459
NM_001283009.2(RTEL1):c.1260C>A (p.Ser420=)
NM_001283009.2(RTEL1):c.1263T>C (p.Tyr421=)
NM_001283009.2(RTEL1):c.1266+10A>G rs2145411553
NM_001283009.2(RTEL1):c.1266+11C>A
NM_001283009.2(RTEL1):c.1266+12C>T
NM_001283009.2(RTEL1):c.1266+17G>C
NM_001283009.2(RTEL1):c.1266+18G>A
NM_001283009.2(RTEL1):c.1266+20G>A
NM_001283009.2(RTEL1):c.1266+29_1267-88del rs1568703547
NM_001283009.2(RTEL1):c.1266+7G>A
NM_001283009.2(RTEL1):c.1266+8C>T
NM_001283009.2(RTEL1):c.1266+9C>T rs1601156030
NM_001283009.2(RTEL1):c.1267-10del
NM_001283009.2(RTEL1):c.1267-11G>C
NM_001283009.2(RTEL1):c.1267-14C>G
NM_001283009.2(RTEL1):c.1267-14C>T
NM_001283009.2(RTEL1):c.1267-16G>A
NM_001283009.2(RTEL1):c.1267-17G>T
NM_001283009.2(RTEL1):c.1267-20C>A
NM_001283009.2(RTEL1):c.1267-4C>T
NM_001283009.2(RTEL1):c.1267-6del rs769812313
NM_001283009.2(RTEL1):c.1267-8C>G
NM_001283009.2(RTEL1):c.1267-8C>T rs2090579465
NM_001283009.2(RTEL1):c.1269G>C (p.Val423=) rs1486180842
NM_001283009.2(RTEL1):c.126C>T (p.Ser42=) rs2090015969
NM_001283009.2(RTEL1):c.1275C>A (p.Ile425=)
NM_001283009.2(RTEL1):c.1293C>T (p.His431=)
NM_001283009.2(RTEL1):c.1299G>A (p.Arg433=)
NM_001283009.2(RTEL1):c.129T>A (p.Pro43=) rs544841425
NM_001283009.2(RTEL1):c.129T>G (p.Pro43=)
NM_001283009.2(RTEL1):c.1302G>A (p.Thr434=) rs200709485
NM_001283009.2(RTEL1):c.1302G>T (p.Thr434=) rs200709485
NM_001283009.2(RTEL1):c.1311G>A (p.Arg437=) rs373693726
NM_001283009.2(RTEL1):c.1329C>T (p.Thr443=)
NM_001283009.2(RTEL1):c.132G>A (p.Thr44=) rs377454469
NM_001283009.2(RTEL1):c.132G>C (p.Thr44=)
NM_001283009.2(RTEL1):c.1332T>A (p.Thr444=) rs753642100
NM_001283009.2(RTEL1):c.1332T>C (p.Thr444=)
NM_001283009.2(RTEL1):c.1344G>A (p.Lys448=) rs755129499
NM_001283009.2(RTEL1):c.1348+10T>A
NM_001283009.2(RTEL1):c.1348+12G>T
NM_001283009.2(RTEL1):c.1348+13G>A
NM_001283009.2(RTEL1):c.1348+14C>T rs1183912815
NM_001283009.2(RTEL1):c.1348+15C>T
NM_001283009.2(RTEL1):c.1348+16_1348+18del
NM_001283009.2(RTEL1):c.1348+18C>T
NM_001283009.2(RTEL1):c.1348+19A>T
NM_001283009.2(RTEL1):c.1348+9C>G
NM_001283009.2(RTEL1):c.1349-13C>G rs376698655
NM_001283009.2(RTEL1):c.1349-14_1349-13delinsTT rs2145419536
NM_001283009.2(RTEL1):c.1349-15C>G
NM_001283009.2(RTEL1):c.1349-15C>T
NM_001283009.2(RTEL1):c.1349-18CCGCCCC[3]
NM_001283009.2(RTEL1):c.1349-19G>T
NM_001283009.2(RTEL1):c.1349-4A>C
NM_001283009.2(RTEL1):c.1349-5C>A
NM_001283009.2(RTEL1):c.1349-7C>G
NM_001283009.2(RTEL1):c.1349-8C>T
NM_001283009.2(RTEL1):c.1349-9G>C rs772899702
NM_001283009.2(RTEL1):c.1356G>A (p.Val452=)
NM_001283009.2(RTEL1):c.1365C>T (p.Tyr455=) rs1189837200
NM_001283009.2(RTEL1):c.1380C>A (p.Pro460=)
NM_001283009.2(RTEL1):c.1383C>T (p.Gly461=)
NM_001283009.2(RTEL1):c.1386C>T (p.His462=)
NM_001283009.2(RTEL1):c.138A>G (p.Thr46=)
NM_001283009.2(RTEL1):c.1398G>A (p.Glu466=)
NM_001283009.2(RTEL1):c.1401G>C (p.Leu467=) rs1601162484
NM_001283009.2(RTEL1):c.1401G>T (p.Leu467=) rs1601162484
NM_001283009.2(RTEL1):c.1404C>T (p.Val468=)
NM_001283009.2(RTEL1):c.1407C>T (p.Arg469=)
NM_001283009.2(RTEL1):c.1419C>A (p.Arg473=) rs117195545
NM_001283009.2(RTEL1):c.1440C>A (p.Gly480=)
NM_001283009.2(RTEL1):c.1443G>T (p.Thr481=)
NM_001283009.2(RTEL1):c.1449C>T (p.Ala483=)
NM_001283009.2(RTEL1):c.1452G>C (p.Pro484=) rs201307924
NM_001283009.2(RTEL1):c.1458C>G (p.Ser486=)
NM_001283009.2(RTEL1):c.1461C>G (p.Ser487=)
NM_001283009.2(RTEL1):c.1467T>A (p.Ala489=) rs753978578
NM_001283009.2(RTEL1):c.1468C>T (p.Leu490=)
NM_001283009.2(RTEL1):c.1479G>A (p.Gln493=)
NM_001283009.2(RTEL1):c.1481+11C>T
NM_001283009.2(RTEL1):c.1481+13C>T
NM_001283009.2(RTEL1):c.1481+15_1481+16del
NM_001283009.2(RTEL1):c.1481+17C>T
NM_001283009.2(RTEL1):c.1481+20G>A
NM_001283009.2(RTEL1):c.1481+8C>A
NM_001283009.2(RTEL1):c.1482-14C>T
NM_001283009.2(RTEL1):c.1482-20C>G
NM_001283009.2(RTEL1):c.1482-20C>T
NM_001283009.2(RTEL1):c.1482-5C>G
NM_001283009.2(RTEL1):c.1482-6G>T
NM_001283009.2(RTEL1):c.1482-8_1482-7inv
NM_001283009.2(RTEL1):c.1482-9C>T rs1601163130
NM_001283009.2(RTEL1):c.1497C>T (p.Cys499=) rs2145420903
NM_001283009.2(RTEL1):c.1498C>T (p.Leu500=) rs2145420911
NM_001283009.2(RTEL1):c.1503G>A (p.Glu501=)
NM_001283009.2(RTEL1):c.1509A>C (p.Pro503=)
NM_001283009.2(RTEL1):c.1515C>A (p.Ile505=) rs2145420942
NM_001283009.2(RTEL1):c.153C>T (p.Cys51=)
NM_001283009.2(RTEL1):c.1542G>A (p.Gly514=) rs116641785
NM_001283009.2(RTEL1):c.1542G>C (p.Gly514=)
NM_001283009.2(RTEL1):c.1548C>A (p.Val516=)
NM_001283009.2(RTEL1):c.154C>T (p.Leu52=) rs2146148631
NM_001283009.2(RTEL1):c.1551C>T (p.Pro517=) rs1171672332
NM_001283009.2(RTEL1):c.1554A>G (p.Arg518=) rs2145421067
NM_001283009.2(RTEL1):c.1557C>A (p.Gly519=)
NM_001283009.2(RTEL1):c.1560C>A (p.Pro520=) rs766940725
NM_001283009.2(RTEL1):c.1563T>C (p.Asp521=)
NM_001283009.2(RTEL1):c.156G>C (p.Leu52=)
NM_001283009.2(RTEL1):c.1573T>C (p.Leu525=)
NM_001283009.2(RTEL1):c.1578C>T (p.Ser526=) rs1436538013
NM_001283009.2(RTEL1):c.1584G>A (p.Ala528=) rs568600515
NM_001283009.2(RTEL1):c.1584G>T (p.Ala528=) rs568600515
NM_001283009.2(RTEL1):c.1590C>T (p.Asp530=)
NM_001283009.2(RTEL1):c.1595+10T>C
NM_001283009.2(RTEL1):c.1595+11G>A
NM_001283009.2(RTEL1):c.1595+13C>G
NM_001283009.2(RTEL1):c.1595+14C>A
NM_001283009.2(RTEL1):c.1595+15C>T
NM_001283009.2(RTEL1):c.1595+8C>A
NM_001283009.2(RTEL1):c.1595+8C>T
NM_001283009.2(RTEL1):c.1596-10_1596-9del
NM_001283009.2(RTEL1):c.1596-12C>T
NM_001283009.2(RTEL1):c.1596-14C>G
NM_001283009.2(RTEL1):c.1596-5T>A
NM_001283009.2(RTEL1):c.1596-7G>C rs1417919064
NM_001283009.2(RTEL1):c.1596-8G>C rs374702981
NM_001283009.2(RTEL1):c.1596-8G>T
NM_001283009.2(RTEL1):c.1602C>G (p.Ser534=) rs745339095
NM_001283009.2(RTEL1):c.1611C>T (p.Cys537=)
NM_001283009.2(RTEL1):c.1620C>T (p.Ser540=)
NM_001283009.2(RTEL1):c.1621C>T (p.Leu541=)
NM_001283009.2(RTEL1):c.1623G>C (p.Leu541=)
NM_001283009.2(RTEL1):c.162C>T (p.Cys54=)
NM_001283009.2(RTEL1):c.1636+11T>A
NM_001283009.2(RTEL1):c.1636+11T>C
NM_001283009.2(RTEL1):c.1636+17C>T
NM_001283009.2(RTEL1):c.1636+18C>T
NM_001283009.2(RTEL1):c.1636+19C>A
NM_001283009.2(RTEL1):c.1636+7G>T
NM_001283009.2(RTEL1):c.1636+8C>A rs2145421713
NM_001283009.2(RTEL1):c.1636+8C>T rs2145421713
NM_001283009.2(RTEL1):c.1637-12C>T
NM_001283009.2(RTEL1):c.1637-15C>A
NM_001283009.2(RTEL1):c.1637-16del
NM_001283009.2(RTEL1):c.1637-19C>G
NM_001283009.2(RTEL1):c.1637-19C>T
NM_001283009.2(RTEL1):c.1637-20C>A
NM_001283009.2(RTEL1):c.1637-20C>T rs762602851
NM_001283009.2(RTEL1):c.1637-3del
NM_001283009.2(RTEL1):c.1637-4C>A
NM_001283009.2(RTEL1):c.1637-4C>G rs759414555
NM_001283009.2(RTEL1):c.1637-7C>T
NM_001283009.2(RTEL1):c.1637-8A>C
NM_001283009.2(RTEL1):c.1637-8A>G
NM_001283009.2(RTEL1):c.1647C>A (p.Ala549=) rs2145422344
NM_001283009.2(RTEL1):c.1650C>G (p.Arg550=) rs147825631
NM_001283009.2(RTEL1):c.1665G>A (p.Gly555=)
NM_001283009.2(RTEL1):c.1671G>A (p.Leu557=) rs2145422444
NM_001283009.2(RTEL1):c.1674C>T (p.Ile558=) rs1601164518
NM_001283009.2(RTEL1):c.1686C>G (p.Ser562=)
NM_001283009.2(RTEL1):c.168G>C (p.Thr56=)
NM_001283009.2(RTEL1):c.168G>T (p.Thr56=) rs776722400
NM_001283009.2(RTEL1):c.1692T>C (p.Pro564=) rs1601164560
NM_001283009.2(RTEL1):c.1695C>G (p.Val565=) rs781633180
NM_001283009.2(RTEL1):c.1695C>T (p.Val565=)
NM_001283009.2(RTEL1):c.16C>T (p.Leu6=)
NM_001283009.2(RTEL1):c.1701G>A (p.Glu567=) rs1480924155
NM_001283009.2(RTEL1):c.1710G>A (p.Leu570=) rs2145422538
NM_001283009.2(RTEL1):c.1716C>T (p.Phe572=)
NM_001283009.2(RTEL1):c.1722+10C>A
NM_001283009.2(RTEL1):c.1722+10C>G rs542270397
NM_001283009.2(RTEL1):c.1722+10C>T
NM_001283009.2(RTEL1):c.1722+12C>G
NM_001283009.2(RTEL1):c.1722+12_1722+13del
NM_001283009.2(RTEL1):c.1722+13T>C
NM_001283009.2(RTEL1):c.1722+14G>A
NM_001283009.2(RTEL1):c.1722+16G>T
NM_001283009.2(RTEL1):c.1722+20T>C
NM_001283009.2(RTEL1):c.1722+7C>T rs1291638268
NM_001283009.2(RTEL1):c.1722+9C>A
NM_001283009.2(RTEL1):c.1722+9C>T rs1344464320
NM_001283009.2(RTEL1):c.1723-10C>T
NM_001283009.2(RTEL1):c.1723-13C>G
NM_001283009.2(RTEL1):c.1723-15C>T
NM_001283009.2(RTEL1):c.1723-17G>C rs1234690358
NM_001283009.2(RTEL1):c.1723-20C>T
NM_001283009.2(RTEL1):c.1723-5C>T rs1601165217
NM_001283009.2(RTEL1):c.1723-6C>T
NM_001283009.2(RTEL1):c.1723-9C>G rs2145423160
NM_001283009.2(RTEL1):c.1723-9C>T rs2145423160
NM_001283009.2(RTEL1):c.1723-9del
NM_001283009.2(RTEL1):c.1725C>T (p.Ala575=) rs375696298
NM_001283009.2(RTEL1):c.1728C>A (p.Arg576=) rs754225573
NM_001283009.2(RTEL1):c.1728C>G (p.Arg576=)
NM_001283009.2(RTEL1):c.1743G>A (p.Lys581=)
NM_001283009.2(RTEL1):c.1753C>T (p.Leu585=) rs1347654093
NM_001283009.2(RTEL1):c.1755G>A (p.Leu585=)
NM_001283009.2(RTEL1):c.1758G>A (p.Lys586=)
NM_001283009.2(RTEL1):c.1761G>C (p.Pro587=)
NM_001283009.2(RTEL1):c.1762C>T (p.Leu588=) rs2145423314
NM_001283009.2(RTEL1):c.1764G>C (p.Leu588=)
NM_001283009.2(RTEL1):c.1767T>C (p.Phe589=) rs747945947
NM_001283009.2(RTEL1):c.1770G>A (p.Val590=) rs2090649363
NM_001283009.2(RTEL1):c.1773G>A (p.Glu591=) rs398123051
NM_001283009.2(RTEL1):c.1776C>T (p.Pro592=) rs771155864
NM_001283009.2(RTEL1):c.1779G>A (p.Arg593=) rs2145423376
NM_001283009.2(RTEL1):c.1788C>G (p.Gly596=) rs1601165422
NM_001283009.2(RTEL1):c.1800+10T>A
NM_001283009.2(RTEL1):c.1800+12G>A
NM_001283009.2(RTEL1):c.1800+12G>C
NM_001283009.2(RTEL1):c.1800+13C>T
NM_001283009.2(RTEL1):c.1800+16G>T
NM_001283009.2(RTEL1):c.1800+17G>A
NM_001283009.2(RTEL1):c.1800+17G>T
NM_001283009.2(RTEL1):c.1800+18G>T
NM_001283009.2(RTEL1):c.1800+19C>G
NM_001283009.2(RTEL1):c.1800+8C>G
NM_001283009.2(RTEL1):c.1801-10T>C
NM_001283009.2(RTEL1):c.1801-12C>T
NM_001283009.2(RTEL1):c.1801-13A>G
NM_001283009.2(RTEL1):c.1801-14A>T rs2145425572
NM_001283009.2(RTEL1):c.1801-16C>G
NM_001283009.2(RTEL1):c.1801-18C>T
NM_001283009.2(RTEL1):c.1801-20C>T
NM_001283009.2(RTEL1):c.1801-7C>A
NM_001283009.2(RTEL1):c.1801-7C>T rs2090663079
NM_001283009.2(RTEL1):c.1801-9T>A
NM_001283009.2(RTEL1):c.1801-9T>C
NM_001283009.2(RTEL1):c.1801-9del
NM_001283009.2(RTEL1):c.1812T>G (p.Ala604=) rs2145425650
NM_001283009.2(RTEL1):c.1815C>T (p.Tyr605=) rs2145425659
NM_001283009.2(RTEL1):c.1818T>C (p.Tyr606=)
NM_001283009.2(RTEL1):c.1821A>G (p.Ala607=) rs2145425699
NM_001283009.2(RTEL1):c.1836T>G (p.Pro612=) rs2145425776
NM_001283009.2(RTEL1):c.1839G>C (p.Gly613=)
NM_001283009.2(RTEL1):c.1854C>T (p.Thr618=) rs763476953
NM_001283009.2(RTEL1):c.1857C>T (p.Phe619=)
NM_001283009.2(RTEL1):c.1858C>T (p.Leu620=) rs368411912
NM_001283009.2(RTEL1):c.1863G>T (p.Ala621=)
NM_001283009.2(RTEL1):c.1866C>G (p.Val622=) rs2090664684
NM_001283009.2(RTEL1):c.1872G>C (p.Arg624=) rs2145425931
NM_001283009.2(RTEL1):c.1872G>T (p.Arg624=) rs2145425931
NM_001283009.2(RTEL1):c.1878+11_1878+20del
NM_001283009.2(RTEL1):c.1878+12A>G
NM_001283009.2(RTEL1):c.1878+12del
NM_001283009.2(RTEL1):c.1878+15G>T
NM_001283009.2(RTEL1):c.1878+16C>T
NM_001283009.2(RTEL1):c.1878+17C>A
NM_001283009.2(RTEL1):c.1878+17C>T
NM_001283009.2(RTEL1):c.1878+20C>G
NM_001283009.2(RTEL1):c.1878+20C>T
NM_001283009.2(RTEL1):c.1878+7T>A rs2145425963
NM_001283009.2(RTEL1):c.1878+7T>C
NM_001283009.2(RTEL1):c.1878+8C>T
NM_001283009.2(RTEL1):c.1879-11G>A
NM_001283009.2(RTEL1):c.1879-13G>A
NM_001283009.2(RTEL1):c.1879-14_1879-4dup
NM_001283009.2(RTEL1):c.1879-16C>G rs373555734
NM_001283009.2(RTEL1):c.1879-18C>T
NM_001283009.2(RTEL1):c.1879-19T>A
NM_001283009.2(RTEL1):c.1879-5C>T
NM_001283009.2(RTEL1):c.1879-7C>A
NM_001283009.2(RTEL1):c.1881C>T (p.Ala627=) rs2090674624
NM_001283009.2(RTEL1):c.1884C>T (p.Ser628=)
NM_001283009.2(RTEL1):c.1890G>T (p.Gly630=)
NM_001283009.2(RTEL1):c.1893G>A (p.Leu631=) rs752909114
NM_001283009.2(RTEL1):c.1899C>T (p.Phe633=)
NM_001283009.2(RTEL1):c.189C>G (p.Leu63=)
NM_001283009.2(RTEL1):c.1908G>C (p.Thr636=)
NM_001283009.2(RTEL1):c.1911T>C (p.Asn637=) rs2145427641
NM_001283009.2(RTEL1):c.1914C>T (p.Gly638=)
NM_001283009.2(RTEL1):c.1926T>C (p.Ile642=)
NM_001283009.2(RTEL1):c.1929C>T (p.Val643=) rs1430582760
NM_001283009.2(RTEL1):c.1932G>C (p.Thr644=)
NM_001283009.2(RTEL1):c.1938C>T (p.Leu646=)
NM_001283009.2(RTEL1):c.1941G>T (p.Pro647=)
NM_001283009.2(RTEL1):c.1944C>T (p.Tyr648=)
NM_001283009.2(RTEL1):c.1947C>A (p.Pro649=)
NM_001283009.2(RTEL1):c.1947C>G (p.Pro649=)
NM_001283009.2(RTEL1):c.1947C>T (p.Pro649=) rs746604406
NM_001283009.2(RTEL1):c.1950A>C (p.Pro650=) rs761454817
NM_001283009.2(RTEL1):c.1959C>T (p.Asp653=)
NM_001283009.2(RTEL1):c.1962C>T (p.Pro654=)
NM_001283009.2(RTEL1):c.1963C>A (p.Arg655=)
NM_001283009.2(RTEL1):c.1974C>T (p.Leu658=)
NM_001283009.2(RTEL1):c.1987C>T (p.Leu663=)
NM_001283009.2(RTEL1):c.2004C>A (p.Gly668=)
NM_001283009.2(RTEL1):c.2007G>A (p.Gln669=) rs2145428063
NM_001283009.2(RTEL1):c.2010T>C (p.Gly670=)
NM_001283009.2(RTEL1):c.2010T>G (p.Gly670=)
NM_001283009.2(RTEL1):c.2019G>C (p.Gly673=) rs2145428129
NM_001283009.2(RTEL1):c.2022C>A (p.Gly674=)
NM_001283009.2(RTEL1):c.2022C>T (p.Gly674=)
NM_001283009.2(RTEL1):c.2025+10A>C rs770832240
NM_001283009.2(RTEL1):c.2025+11G>A
NM_001283009.2(RTEL1):c.2025+12C>T
NM_001283009.2(RTEL1):c.2025+13A>G
NM_001283009.2(RTEL1):c.2025+15_2025+16dup
NM_001283009.2(RTEL1):c.2025+7T>C
NM_001283009.2(RTEL1):c.2025+9C>G rs1023672262
NM_001283009.2(RTEL1):c.2026-11T>C
NM_001283009.2(RTEL1):c.2026-12C>G
NM_001283009.2(RTEL1):c.2026-14G>A rs753171579
NM_001283009.2(RTEL1):c.2026-14G>C
NM_001283009.2(RTEL1):c.2026-20C>G
NM_001283009.2(RTEL1):c.2026-8C>T
NM_001283009.2(RTEL1):c.2026-9G>A rs1451108755
NM_001283009.2(RTEL1):c.2031C>T (p.Leu677=)
NM_001283009.2(RTEL1):c.2034T>C (p.Ser678=)
NM_001283009.2(RTEL1):c.2049C>T (p.Tyr683=) rs745736556
NM_001283009.2(RTEL1):c.2052G>C (p.Arg684=) rs2145428905
NM_001283009.2(RTEL1):c.2061G>C (p.Ala687=)
NM_001283009.2(RTEL1):c.2070T>C (p.Ala690=) rs2145428965
NM_001283009.2(RTEL1):c.2073G>A (p.Val691=)
NM_001283009.2(RTEL1):c.207C>T (p.Ala69=) rs957858006
NM_001283009.2(RTEL1):c.2082C>T (p.Ala694=) rs2145428995
NM_001283009.2(RTEL1):c.2085C>A (p.Ile695=)
NM_001283009.2(RTEL1):c.2088G>A (p.Gly696=) rs2145429023
NM_001283009.2(RTEL1):c.2088G>T (p.Gly696=)
NM_001283009.2(RTEL1):c.2091A>C (p.Arg697=) rs2145429055
NM_001283009.2(RTEL1):c.2100G>A (p.Arg700=) rs1363635362
NM_001283009.2(RTEL1):c.2103C>T (p.His701=)
NM_001283009.2(RTEL1):c.2121T>C (p.Ala707=)
NM_001283009.2(RTEL1):c.2124C>T (p.Val708=) rs1345711959
NM_001283009.2(RTEL1):c.2130C>T (p.Leu710=) rs2145429198
NM_001283009.2(RTEL1):c.2139C>T (p.His713=) rs2145429218
NM_001283009.2(RTEL1):c.2141+10G>A
NM_001283009.2(RTEL1):c.2141+10G>C rs2145429313
NM_001283009.2(RTEL1):c.2141+13C>A
NM_001283009.2(RTEL1):c.2141+13C>T
NM_001283009.2(RTEL1):c.2141+14G>C
NM_001283009.2(RTEL1):c.2141+14_2141+48del
NM_001283009.2(RTEL1):c.2141+15G>A
NM_001283009.2(RTEL1):c.2141+19C>A
NM_001283009.2(RTEL1):c.2141+7G>A
NM_001283009.2(RTEL1):c.2141+8C>T
NM_001283009.2(RTEL1):c.2141+9A>G rs2145429302
NM_001283009.2(RTEL1):c.2142-10C>A
NM_001283009.2(RTEL1):c.2142-10C>T
NM_001283009.2(RTEL1):c.2142-10del
NM_001283009.2(RTEL1):c.2142-12G>A
NM_001283009.2(RTEL1):c.2142-17C>A
NM_001283009.2(RTEL1):c.2142-17C>T
NM_001283009.2(RTEL1):c.2142-18G>T
NM_001283009.2(RTEL1):c.2142-19G>A
NM_001283009.2(RTEL1):c.2142-4C>A rs762201678
NM_001283009.2(RTEL1):c.2142-4_2142-3dup
NM_001283009.2(RTEL1):c.2142-7C>T rs879582201
NM_001283009.2(RTEL1):c.2142-8C>A rs769261916
NM_001283009.2(RTEL1):c.2142-8C>T rs769261916
NM_001283009.2(RTEL1):c.2148C>G (p.Ala716=) rs2090696568
NM_001283009.2(RTEL1):c.2148C>T (p.Ala716=) rs2090696568
NM_001283009.2(RTEL1):c.2169A>G (p.Gln723=) rs1224602711
NM_001283009.2(RTEL1):c.2175C>T (p.Pro725=) rs2145430702
NM_001283009.2(RTEL1):c.2178C>G (p.Ser726=)
NM_001283009.2(RTEL1):c.2190C>G (p.Pro730=) rs144933599
NM_001283009.2(RTEL1):c.21T>C (p.Asn7=)
NM_001283009.2(RTEL1):c.2208C>T (p.Asp736=) rs1466033531
NM_001283009.2(RTEL1):c.2211C>T (p.Asn737=) rs759047464
NM_001283009.2(RTEL1):c.2214T>C (p.Phe738=)
NM_001283009.2(RTEL1):c.2220T>C (p.His740=)
NM_001283009.2(RTEL1):c.2229A>G (p.Arg743=) rs1601170877
NM_001283009.2(RTEL1):c.222G>A (p.Glu74=) rs2146148909
NM_001283009.2(RTEL1):c.2235G>A (p.Val745=)
NM_001283009.2(RTEL1):c.2247C>T (p.Phe749=)
NM_001283009.2(RTEL1):c.2253T>C (p.Val751=)
NM_001283009.2(RTEL1):c.2256C>A (p.Ala752=)
NM_001283009.2(RTEL1):c.2265+10T>A rs2090701320
NM_001283009.2(RTEL1):c.2265+13C>T
NM_001283009.2(RTEL1):c.2265+13_2265+17del
NM_001283009.2(RTEL1):c.2265+14C>T
NM_001283009.2(RTEL1):c.2265+15A>G
NM_001283009.2(RTEL1):c.2265+16G>T
NM_001283009.2(RTEL1):c.2265+17G>C
NM_001283009.2(RTEL1):c.2265+19del
NM_001283009.2(RTEL1):c.2265+20G>A
NM_001283009.2(RTEL1):c.2265+7dup rs1568712284
NM_001283009.2(RTEL1):c.2266-10G>T rs1380515012
NM_001283009.2(RTEL1):c.2266-12A>G
NM_001283009.2(RTEL1):c.2266-13C>T
NM_001283009.2(RTEL1):c.2266-14C>T
NM_001283009.2(RTEL1):c.2266-17C>A
NM_001283009.2(RTEL1):c.2266-17C>T
NM_001283009.2(RTEL1):c.2266-19C>T
NM_001283009.2(RTEL1):c.2266-20C>T rs1601171294
NM_001283009.2(RTEL1):c.2266-4G>A
NM_001283009.2(RTEL1):c.2266-6C>T
NM_001283009.2(RTEL1):c.2266-9G>A rs917815049
NM_001283009.2(RTEL1):c.2274G>T (p.Ala758=)
NM_001283009.2(RTEL1):c.2280C>A (p.Ala760=)
NM_001283009.2(RTEL1):c.2283C>G (p.Pro761=)
NM_001283009.2(RTEL1):c.2283C>T (p.Pro761=) rs1447604348
NM_001283009.2(RTEL1):c.2286G>C (p.Arg762=)
NM_001283009.2(RTEL1):c.228G>A (p.Ala76=) rs116624637
NM_001283009.2(RTEL1):c.228G>T (p.Ala76=)
NM_001283009.2(RTEL1):c.2292A>G (p.Thr764=) rs2090705028
NM_001283009.2(RTEL1):c.2295A>G (p.Ala765=)
NM_001283009.2(RTEL1):c.2298C>G (p.Pro766=)
NM_001283009.2(RTEL1):c.2304G>A (p.Val768=)
NM_001283009.2(RTEL1):c.2307T>C (p.Arg769=) rs2145431775
NM_001283009.2(RTEL1):c.2322C>T (p.Val774=) rs2145431842
NM_001283009.2(RTEL1):c.2337G>A (p.Ser779=) rs769675904
NM_001283009.2(RTEL1):c.2337G>C (p.Ser779=) rs769675904
NM_001283009.2(RTEL1):c.2343C>A (p.Gly781=) rs766185797
NM_001283009.2(RTEL1):c.2346C>T (p.Pro782=) rs753928264
NM_001283009.2(RTEL1):c.2355C>T (p.Ser785=)
NM_001283009.2(RTEL1):c.2361G>A (p.Arg787=)
NM_001283009.2(RTEL1):c.2364A>G (p.Lys788=) rs2145432070
NM_001283009.2(RTEL1):c.2370G>A (p.Lys790=) rs553827008
NM_001283009.2(RTEL1):c.2373T>C (p.Ser791=) rs2145432121
NM_001283009.2(RTEL1):c.2376G>A (p.Leu792=) rs2090707327
NM_001283009.2(RTEL1):c.2380C>T (p.Leu794=)
NM_001283009.2(RTEL1):c.2382G>A (p.Leu794=)
NM_001283009.2(RTEL1):c.2382G>C (p.Leu794=)
NM_001283009.2(RTEL1):c.2388C>T (p.Val796=)
NM_001283009.2(RTEL1):c.2391C>T (p.Pro797=)
NM_001283009.2(RTEL1):c.2394C>T (p.Ser798=) rs2145432222
NM_001283009.2(RTEL1):c.2395C>T (p.Leu799=) rs1601171872
NM_001283009.2(RTEL1):c.2397G>A (p.Leu799=)
NM_001283009.2(RTEL1):c.2413+12C>T
NM_001283009.2(RTEL1):c.2413+18T>C
NM_001283009.2(RTEL1):c.2413+22_2413+35dup
NM_001283009.2(RTEL1):c.2413+7A>C
NM_001283009.2(RTEL1):c.2413+9G>C
NM_001283009.2(RTEL1):c.2414-10G>T
NM_001283009.2(RTEL1):c.2414-18A>G
NM_001283009.2(RTEL1):c.2414-4G>T rs2145434270
NM_001283009.2(RTEL1):c.2414-4dup
NM_001283009.2(RTEL1):c.2414-5T>C
NM_001283009.2(RTEL1):c.2414-6C>G
NM_001283009.2(RTEL1):c.2414-7C>T rs2090721076
NM_001283009.2(RTEL1):c.2414-8C>T rs1177086266
NM_001283009.2(RTEL1):c.2414-9C>A
NM_001283009.2(RTEL1):c.2415G>T (p.Gly805=)
NM_001283009.2(RTEL1):c.2421A>G (p.Pro807=)
NM_001283009.2(RTEL1):c.2430G>A (p.Gly810=) rs760225851
NM_001283009.2(RTEL1):c.2433C>T (p.Asp811=)
NM_001283009.2(RTEL1):c.2436C>G (p.Pro812=)
NM_001283009.2(RTEL1):c.2439G>A (p.Glu813=)
NM_001283009.2(RTEL1):c.2451T>C (p.Cys817=)
NM_001283009.2(RTEL1):c.2454G>A (p.Val818=) rs1568713512
NM_001283009.2(RTEL1):c.2466G>A (p.Gln822=)
NM_001283009.2(RTEL1):c.2469G>A (p.Glu823=) rs1370303496
NM_001283009.2(RTEL1):c.2472A>C (p.Pro824=)
NM_001283009.2(RTEL1):c.2475T>C (p.Val825=)
NM_001283009.2(RTEL1):c.2484G>T (p.Arg828=)
NM_001283009.2(RTEL1):c.2487G>A (p.Gln829=)
NM_001283009.2(RTEL1):c.2493C>T (p.Pro831=)
NM_001283009.2(RTEL1):c.2496G>A (p.Arg832=)
NM_001283009.2(RTEL1):c.2503C>T (p.Leu835=)
NM_001283009.2(RTEL1):c.2505G>A (p.Leu835=)
NM_001283009.2(RTEL1):c.2508C>A (p.Ala836=) rs147245368
NM_001283009.2(RTEL1):c.2508C>G (p.Ala836=)
NM_001283009.2(RTEL1):c.2512C>T (p.Leu838=) rs996529824
NM_001283009.2(RTEL1):c.2520C>T (p.His840=) rs1299433246
NM_001283009.2(RTEL1):c.2532G>A (p.Arg844=) rs1467466353
NM_001283009.2(RTEL1):c.2535G>C (p.Ala845=)
NM_001283009.2(RTEL1):c.2538G>A (p.Gly846=)
NM_001283009.2(RTEL1):c.2544T>A (p.Pro848=)
NM_001283009.2(RTEL1):c.2547C>G (p.Gly849=)
NM_001283009.2(RTEL1):c.2556+10C>G
NM_001283009.2(RTEL1):c.2556+10C>T
NM_001283009.2(RTEL1):c.2556+15C>A
NM_001283009.2(RTEL1):c.2556+15C>T
NM_001283009.2(RTEL1):c.2556+16C>T
NM_001283009.2(RTEL1):c.2556+9C>G
NM_001283009.2(RTEL1):c.2556+9C>T
NM_001283009.2(RTEL1):c.2557-13G>T
NM_001283009.2(RTEL1):c.2557-15C>G
NM_001283009.2(RTEL1):c.2557-16G>A
NM_001283009.2(RTEL1):c.2557-19T>C
NM_001283009.2(RTEL1):c.2557-26_2557-10del rs909213282
NM_001283009.2(RTEL1):c.2557-8C>T rs200385247
NM_001283009.2(RTEL1):c.2559C>G (p.Ala853=)
NM_001283009.2(RTEL1):c.2571C>T (p.Ser857=) rs2090750852
NM_001283009.2(RTEL1):c.2574C>G (p.Thr858=) rs2145439077
NM_001283009.2(RTEL1):c.2574C>T (p.Thr858=)
NM_001283009.2(RTEL1):c.2577G>C (p.Leu859=)
NM_001283009.2(RTEL1):c.2583C>G (p.Leu861=) rs371578010
NM_001283009.2(RTEL1):c.2584C>T (p.Leu862=) rs375344250
NM_001283009.2(RTEL1):c.2586G>A (p.Leu862=) rs376383608
NM_001283009.2(RTEL1):c.2586G>C (p.Leu862=) rs376383608
NM_001283009.2(RTEL1):c.2596A>C (p.Arg866=) rs2145439189
NM_001283009.2(RTEL1):c.2598G>A (p.Arg866=) rs2145439204
NM_001283009.2(RTEL1):c.2601G>C (p.Pro867=)
NM_001283009.2(RTEL1):c.2613G>C (p.Pro871=)
NM_001283009.2(RTEL1):c.2613G>T (p.Pro871=) rs758611174
NM_001283009.2(RTEL1):c.261A>C (p.Ser87=)
NM_001283009.2(RTEL1):c.2622G>A (p.Gly874=)
NM_001283009.2(RTEL1):c.2622G>C (p.Gly874=)
NM_001283009.2(RTEL1):c.2625G>A (p.Arg875=) rs1601177031
NM_001283009.2(RTEL1):c.2628G>A (p.Lys876=)
NM_001283009.2(RTEL1):c.2638C>T (p.Leu880=)
NM_001283009.2(RTEL1):c.2643C>T (p.Val881=)
NM_001283009.2(RTEL1):c.2652+13T>A
NM_001283009.2(RTEL1):c.2652+13T>G
NM_001283009.2(RTEL1):c.2652+13_2652+18del rs758744004
NM_001283009.2(RTEL1):c.2652+14C>A
NM_001283009.2(RTEL1):c.2652+15C>G
NM_001283009.2(RTEL1):c.2652+16C>G
NM_001283009.2(RTEL1):c.2652+16C>T
NM_001283009.2(RTEL1):c.2652+18G>A
NM_001283009.2(RTEL1):c.2652+19C>A
NM_001283009.2(RTEL1):c.2652+20A>C
NM_001283009.2(RTEL1):c.2652+7G>C
NM_001283009.2(RTEL1):c.2652+8A>C
NM_001283009.2(RTEL1):c.2653-11G>C
NM_001283009.2(RTEL1):c.2653-12T>C
NM_001283009.2(RTEL1):c.2653-13C>T
NM_001283009.2(RTEL1):c.2653-14C>G
NM_001283009.2(RTEL1):c.2653-16G>T
NM_001283009.2(RTEL1):c.2653-17G>C
NM_001283009.2(RTEL1):c.2653-18C>G
NM_001283009.2(RTEL1):c.2653-20C>G rs776381697
NM_001283009.2(RTEL1):c.2653-33_2653-11del
NM_001283009.2(RTEL1):c.2653-6C>G
NM_001283009.2(RTEL1):c.2653-6C>T rs1601181865
NM_001283009.2(RTEL1):c.2653-7C>G rs1472538837
NM_001283009.2(RTEL1):c.2653-7C>T rs1472538837
NM_001283009.2(RTEL1):c.2653-9G>A
NM_001283009.2(RTEL1):c.2658G>A (p.Glu886=) rs775722854
NM_001283009.2(RTEL1):c.2661C>A (p.Pro887=) rs3848671
NM_001283009.2(RTEL1):c.2661C>G (p.Pro887=) rs3848671
NM_001283009.2(RTEL1):c.2662G>C (p.Val888Leu) rs200505378
NM_001283009.2(RTEL1):c.2670T>C (p.Gly890=) rs750863266
NM_001283009.2(RTEL1):c.2673A>G (p.Ala891=)
NM_001283009.2(RTEL1):c.2679G>C (p.Thr893=) rs754389601
NM_001283009.2(RTEL1):c.2679G>T (p.Thr893=) rs754389601
NM_001283009.2(RTEL1):c.2682C>T (p.Asp894=)
NM_001283009.2(RTEL1):c.2685G>A (p.Arg895=)
NM_001283009.2(RTEL1):c.2688C>G (p.Ala896=)
NM_001283009.2(RTEL1):c.2688C>T (p.Ala896=)
NM_001283009.2(RTEL1):c.2694C>A (p.Leu898=)
NM_001283009.2(RTEL1):c.2694C>T (p.Leu898=)
NM_001283009.2(RTEL1):c.2697C>T (p.Phe899=)
NM_001283009.2(RTEL1):c.2706C>G (p.Ala902=) rs116788553
NM_001283009.2(RTEL1):c.270C>A (p.Gly90=)
NM_001283009.2(RTEL1):c.2715G>A (p.Gln905=) rs1278177922
NM_001283009.2(RTEL1):c.2718G>A (p.Glu906=) rs765888621
NM_001283009.2(RTEL1):c.2724C>T (p.Ser908=)
NM_001283009.2(RTEL1):c.2727A>G (p.Gln909=) rs2145446108
NM_001283009.2(RTEL1):c.2730C>A (p.Ala910=)
NM_001283009.2(RTEL1):c.2730C>T (p.Ala910=) rs1200841323
NM_001283009.2(RTEL1):c.2733C>T (p.Asn911=) rs372027131
NM_001283009.2(RTEL1):c.2736T>C (p.Phe912=) rs755652402
NM_001283009.2(RTEL1):c.2739C>T (p.Ala913=) rs1601182369
NM_001283009.2(RTEL1):c.273C>T (p.Asn91=) rs779793496
NM_001283009.2(RTEL1):c.2742C>A (p.Thr914=) rs777637767
NM_001283009.2(RTEL1):c.2742C>G (p.Thr914=) rs777637767
NM_001283009.2(RTEL1):c.2742C>T (p.Thr914=) rs777637767
NM_001283009.2(RTEL1):c.2745C>T (p.Phe915=) rs1376717154
NM_001283009.2(RTEL1):c.2748C>G (p.Thr916=)
NM_001283009.2(RTEL1):c.2754C>G (p.Ala918=) rs201754938
NM_001283009.2(RTEL1):c.2755C>T (p.Leu919=)
NM_001283009.2(RTEL1):c.2757G>A (p.Leu919=) rs1384223139
NM_001283009.2(RTEL1):c.2757G>T (p.Leu919=) rs1384223139
NM_001283009.2(RTEL1):c.2760G>A (p.Gln920=) rs1330703717
NM_001283009.2(RTEL1):c.2766C>T (p.Tyr922=) rs1216056013
NM_001283009.2(RTEL1):c.2778T>C (p.Asp926=)
NM_001283009.2(RTEL1):c.2781C>T (p.Asp927=) rs767158073
NM_001283009.2(RTEL1):c.2787C>A (p.Ala929=)
NM_001283009.2(RTEL1):c.2790C>T (p.Ala930=)
NM_001283009.2(RTEL1):c.2791C>T (p.Leu931=) rs2145446620
NM_001283009.2(RTEL1):c.2793G>A (p.Leu931=)
NM_001283009.2(RTEL1):c.2796C>A (p.Ala932=)
NM_001283009.2(RTEL1):c.2799C>A (p.Ala933=)
NM_001283009.2(RTEL1):c.2799C>G (p.Ala933=) rs929062749
NM_001283009.2(RTEL1):c.2799C>T (p.Ala933=) rs929062749
NM_001283009.2(RTEL1):c.279T>C (p.Ala93=)
NM_001283009.2(RTEL1):c.2802T>C (p.Cys934=)
NM_001283009.2(RTEL1):c.2808C>T (p.Gly936=) rs774750824
NM_001283009.2(RTEL1):c.2811C>A (p.Pro937=) rs1181105745
NM_001283009.2(RTEL1):c.2811C>G (p.Pro937=)
NM_001283009.2(RTEL1):c.2814C>G (p.Leu938=)
NM_001283009.2(RTEL1):c.2814C>T (p.Leu938=)
NM_001283009.2(RTEL1):c.2817T>C (p.Phe939=)
NM_001283009.2(RTEL1):c.2823G>A (p.Glu941=)
NM_001283009.2(RTEL1):c.2826C>T (p.Asp942=)
NM_001283009.2(RTEL1):c.2829C>A (p.Pro943=)
NM_001283009.2(RTEL1):c.2829C>T (p.Pro943=) rs774862674
NM_001283009.2(RTEL1):c.2832G>A (p.Lys944=) rs147040733
NM_001283009.2(RTEL1):c.2844G>A (p.Leu948=) rs758337310
NM_001283009.2(RTEL1):c.2844G>C (p.Leu948=) rs758337310
NM_001283009.2(RTEL1):c.2847C>A (p.Leu949=) rs766185347
NM_001283009.2(RTEL1):c.2847C>G (p.Leu949=) rs766185347
NM_001283009.2(RTEL1):c.2847C>T (p.Leu949=) rs766185347
NM_001283009.2(RTEL1):c.2851+10C>G
NM_001283009.2(RTEL1):c.2851+11T>C rs2090793329
NM_001283009.2(RTEL1):c.2851+12T>G
NM_001283009.2(RTEL1):c.2851+13G>T
NM_001283009.2(RTEL1):c.2851+15A>G rs2145447308
NM_001283009.2(RTEL1):c.2851+16G>C rs757293061
NM_001283009.2(RTEL1):c.2851+18G>C
NM_001283009.2(RTEL1):c.2851+19G>A
NM_001283009.2(RTEL1):c.2851+19G>T rs373177624
NM_001283009.2(RTEL1):c.2851+20C>G
NM_001283009.2(RTEL1):c.2851+20C>T
NM_001283009.2(RTEL1):c.2851+22_2851+45dup
NM_001283009.2(RTEL1):c.2851+7T>C
NM_001283009.2(RTEL1):c.2851+7T>G
NM_001283009.2(RTEL1):c.2851+7_2851+18delinsCAA
NM_001283009.2(RTEL1):c.2852-12C>A
NM_001283009.2(RTEL1):c.2852-12C>G
NM_001283009.2(RTEL1):c.2852-12C>T rs745776915
NM_001283009.2(RTEL1):c.2852-13C>G rs770559649
NM_001283009.2(RTEL1):c.2852-13C>T
NM_001283009.2(RTEL1):c.2852-14C>G
NM_001283009.2(RTEL1):c.2852-15C>A
NM_001283009.2(RTEL1):c.2852-17C>A
NM_001283009.2(RTEL1):c.2852-18A>C
NM_001283009.2(RTEL1):c.2852-18A>G
NM_001283009.2(RTEL1):c.2852-19G>A
NM_001283009.2(RTEL1):c.2852-19G>C
NM_001283009.2(RTEL1):c.2852-19G>T
NM_001283009.2(RTEL1):c.2852-20A>C
NM_001283009.2(RTEL1):c.2852-20A>G
NM_001283009.2(RTEL1):c.2852-5T>C rs1601184089
NM_001283009.2(RTEL1):c.2852-6C>T rs1179686618
NM_001283009.2(RTEL1):c.2852-8C>A rs1385275802
NM_001283009.2(RTEL1):c.2852-8C>T rs1385275802
NM_001283009.2(RTEL1):c.2853C>A (p.Gly951=) rs763959402
NM_001283009.2(RTEL1):c.2853C>T (p.Gly951=)
NM_001283009.2(RTEL1):c.2856C>T (p.Phe952=) rs1041575386
NM_001283009.2(RTEL1):c.2859C>T (p.Tyr953=) rs1601184152
NM_001283009.2(RTEL1):c.285T>C (p.Ala95=)
NM_001283009.2(RTEL1):c.2862G>A (p.Gln954=) rs2090803221
NM_001283009.2(RTEL1):c.2865T>C (p.Phe955=)
NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=) rs398123018
NM_001283009.2(RTEL1):c.2871G>A (p.Arg957=) rs1282351226
NM_001283009.2(RTEL1):c.2874C>G (p.Pro958=)
NM_001283009.2(RTEL1):c.2874C>T (p.Pro958=) rs369953611
NM_001283009.2(RTEL1):c.2877C>T (p.His959=) rs373996455
NM_001283009.2(RTEL1):c.2886G>A (p.Gln962=) rs757018726
NM_001283009.2(RTEL1):c.2889G>A (p.Gln963=) rs1274218203
NM_001283009.2(RTEL1):c.2895G>A (p.Glu965=)
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=) rs115464632
NM_001283009.2(RTEL1):c.2901C>T (p.Val967=) rs1437204344
NM_001283009.2(RTEL1):c.2904T>C (p.Cys968=) rs1474203821
NM_001283009.2(RTEL1):c.2907C>T (p.Ile969=)
NM_001283009.2(RTEL1):c.2910G>A (p.Gln970=) rs766629738
NM_001283009.2(RTEL1):c.2913G>A (p.Leu971=) rs2090805160
NM_001283009.2(RTEL1):c.2913G>C (p.Leu971=)
NM_001283009.2(RTEL1):c.2916A>G (p.Thr972=) rs2090805293
NM_001283009.2(RTEL1):c.2920C>A (p.Arg974=) rs398123017
NM_001283009.2(RTEL1):c.2922A>C (p.Arg974=) rs2145449025
NM_001283009.2(RTEL1):c.2922A>G (p.Arg974=) rs2145449025
NM_001283009.2(RTEL1):c.2925C>A (p.Gly975=) rs2090805771
NM_001283009.2(RTEL1):c.2925C>G (p.Gly975=)
NM_001283009.2(RTEL1):c.2928T>C (p.Cys976=) rs2145449075
NM_001283009.2(RTEL1):c.2931C>A (p.Gly977=) rs2090805930
NM_001283009.2(RTEL1):c.2931C>G (p.Gly977=) rs2090805930
NM_001283009.2(RTEL1):c.2931C>T (p.Gly977=)
NM_001283009.2(RTEL1):c.2935C>A (p.Arg979=) rs144034326
NM_001283009.2(RTEL1):c.2937G>C (p.Arg979=) rs768689934
NM_001283009.2(RTEL1):c.2940T>G (p.Pro980=) rs141618172
NM_001283009.2(RTEL1):c.2943G>A (p.Glu981=)
NM_001283009.2(RTEL1):c.2949C>T (p.Ser983=)
NM_001283009.2(RTEL1):c.294C>T (p.Asp98=) rs2146149184
NM_001283009.2(RTEL1):c.2952T>A (p.Ile984=)
NM_001283009.2(RTEL1):c.2955C>G (p.Pro985=) rs2090808224
NM_001283009.2(RTEL1):c.2956C>A (p.Arg986=)
NM_001283009.2(RTEL1):c.2958A>G (p.Arg986=)
NM_001283009.2(RTEL1):c.2964G>A (p.Gln988=) rs1380817783
NM_001283009.2(RTEL1):c.2967G>A (p.Arg989=) rs2090809210
NM_001283009.2(RTEL1):c.2970A>T (p.Ala990=)
NM_001283009.2(RTEL1):c.2973G>A (p.Gln991=) rs748092893
NM_001283009.2(RTEL1):c.2976G>C (p.Pro992=) rs373347391
NM_001283009.2(RTEL1):c.2979C>T (p.Val993=) rs116365288
NM_001283009.2(RTEL1):c.2982G>A (p.Leu994=)
NM_001283009.2(RTEL1):c.2982G>C (p.Leu994=) rs1187112291
NM_001283009.2(RTEL1):c.2985C>T (p.Asp995=) rs762474261
NM_001283009.2(RTEL1):c.2988C>A (p.Pro996=) rs150932919
NM_001283009.2(RTEL1):c.2988C>G (p.Pro996=) rs150932919
NM_001283009.2(RTEL1):c.2992+10G>C
NM_001283009.2(RTEL1):c.2992+11C>A
NM_001283009.2(RTEL1):c.2992+12C>G
NM_001283009.2(RTEL1):c.2992+12C>T rs780261597
NM_001283009.2(RTEL1):c.2992+13C>G rs200323578
NM_001283009.2(RTEL1):c.2992+13C>T
NM_001283009.2(RTEL1):c.2992+13_2992+14dup
NM_001283009.2(RTEL1):c.2992+14C>G rs776911718
NM_001283009.2(RTEL1):c.2992+14C>T rs776911718
NM_001283009.2(RTEL1):c.2992+16G>C
NM_001283009.2(RTEL1):c.2992+17del rs2090812191
NM_001283009.2(RTEL1):c.2992+18T>A rs773890709
NM_001283009.2(RTEL1):c.2992+19G>A
NM_001283009.2(RTEL1):c.2992+20G>C rs763328897
NM_001283009.2(RTEL1):c.2992+20G>T
NM_001283009.2(RTEL1):c.2992+8G>A rs1236751268
NM_001283009.2(RTEL1):c.2993-11C>G
NM_001283009.2(RTEL1):c.2993-11C>T
NM_001283009.2(RTEL1):c.2993-13A>G
NM_001283009.2(RTEL1):c.2993-14C>T
NM_001283009.2(RTEL1):c.2993-15A>G
NM_001283009.2(RTEL1):c.2993-17C>T
NM_001283009.2(RTEL1):c.2993-19C>T
NM_001283009.2(RTEL1):c.2993-5A>G
NM_001283009.2(RTEL1):c.2993-5A>T
NM_001283009.2(RTEL1):c.2993-6C>A
NM_001283009.2(RTEL1):c.2993-9C>G rs1345171159
NM_001283009.2(RTEL1):c.3006G>A (p.Pro1002=) rs201351158
NM_001283009.2(RTEL1):c.3006G>C (p.Pro1002=) rs201351158
NM_001283009.2(RTEL1):c.301+13C>A
NM_001283009.2(RTEL1):c.301+13C>G
NM_001283009.2(RTEL1):c.301+13C>T
NM_001283009.2(RTEL1):c.301+14C>T
NM_001283009.2(RTEL1):c.301+20C>T rs1433016279
NM_001283009.2(RTEL1):c.301+7del
NM_001283009.2(RTEL1):c.301+8T>G
NM_001283009.2(RTEL1):c.301+9A>C
NM_001283009.2(RTEL1):c.3015G>A (p.Lys1005=) rs1278233275
NM_001283009.2(RTEL1):c.3018G>A (p.Leu1006=)
NM_001283009.2(RTEL1):c.302-10G>A rs1192142043
NM_001283009.2(RTEL1):c.302-15_302-12del
NM_001283009.2(RTEL1):c.302-19C>A
NM_001283009.2(RTEL1):c.302-20G>C
NM_001283009.2(RTEL1):c.302-8C>T
NM_001283009.2(RTEL1):c.3021C>G (p.Thr1007=)
NM_001283009.2(RTEL1):c.3024G>C (p.Val1008=) rs2090912920
NM_001283009.2(RTEL1):c.3024G>T (p.Val1008=)
NM_001283009.2(RTEL1):c.3027C>T (p.Ser1009=) rs2145470954
NM_001283009.2(RTEL1):c.3033T>C (p.Ala1011=) rs574653429
NM_001283009.2(RTEL1):c.3033T>G (p.Ala1011=)
NM_001283009.2(RTEL1):c.3039C>G (p.Ala1013=)
NM_001283009.2(RTEL1):c.303T>C (p.Ala101=) rs2146150593
NM_001283009.2(RTEL1):c.3042G>A (p.Gln1014=) rs1601194512
NM_001283009.2(RTEL1):c.3045G>A (p.Gln1015=)
NM_001283009.2(RTEL1):c.3046C>T (p.Leu1016=) rs1601194528
NM_001283009.2(RTEL1):c.3057A>G (p.Gln1019=)
NM_001283009.2(RTEL1):c.3060G>A (p.Glu1020=)
NM_001283009.2(RTEL1):c.3063C>T (p.His1021=)
NM_001283009.2(RTEL1):c.3066G>A (p.Leu1022=) rs2145471357
NM_001283009.2(RTEL1):c.3069C>T (p.Asn1023=)
NM_001283009.2(RTEL1):c.306C>T (p.Cys102=)
NM_001283009.2(RTEL1):c.3075C>A (p.Gly1025=)
NM_001283009.2(RTEL1):c.3078G>A (p.Arg1026=)
NM_001283009.2(RTEL1):c.3081C>T (p.Pro1027=) rs1601194720
NM_001283009.2(RTEL1):c.3085C>T (p.Leu1029=)
NM_001283009.2(RTEL1):c.3087G>T (p.Leu1029=)
NM_001283009.2(RTEL1):c.3090G>T (p.Ser1030=)
NM_001283009.2(RTEL1):c.3093C>T (p.Pro1031=) rs756822666
NM_001283009.2(RTEL1):c.3096G>A (p.Arg1032=) rs1340574679
NM_001283009.2(RTEL1):c.309C>T (p.Tyr103=) rs2146150632
NM_001283009.2(RTEL1):c.3109+11C>G
NM_001283009.2(RTEL1):c.3109+18C>T
NM_001283009.2(RTEL1):c.3109+19G>C
NM_001283009.2(RTEL1):c.3109+7G>A
NM_001283009.2(RTEL1):c.3109+7G>T
NM_001283009.2(RTEL1):c.3109+9C>G
NM_001283009.2(RTEL1):c.3110-13A>G
NM_001283009.2(RTEL1):c.3110-15C>T
NM_001283009.2(RTEL1):c.3110-16G>C
NM_001283009.2(RTEL1):c.3110-18A>G
NM_001283009.2(RTEL1):c.3110-4C>T rs1417877726
NM_001283009.2(RTEL1):c.3110-6C>A
NM_001283009.2(RTEL1):c.3110-8C>A
NM_001283009.2(RTEL1):c.3110-9C>G
NM_001283009.2(RTEL1):c.3110-9C>T rs780938637
NM_001283009.2(RTEL1):c.3114C>T (p.Asp1038=) rs746139882
NM_001283009.2(RTEL1):c.3120C>A (p.Gly1040=)
NM_001283009.2(RTEL1):c.3123C>T (p.Ser1041=)
NM_001283009.2(RTEL1):c.3129A>C (p.Pro1043=) rs199578945
NM_001283009.2(RTEL1):c.3129A>T (p.Pro1043=)
NM_001283009.2(RTEL1):c.312G>A (p.Thr104=) rs1348086708
NM_001283009.2(RTEL1):c.3138G>T (p.Gly1046=)
NM_001283009.2(RTEL1):c.3147G>C (p.Val1049=) rs2145474591
NM_001283009.2(RTEL1):c.3150C>T (p.Pro1050=) rs2145474615
NM_001283009.2(RTEL1):c.3156A>C (p.Ala1052=) rs2145474659
NM_001283009.2(RTEL1):c.315C>T (p.Asp105=)
NM_001283009.2(RTEL1):c.3165G>A (p.Gln1055=)
NM_001283009.2(RTEL1):c.3168C>A (p.Gly1056=) rs2145474688
NM_001283009.2(RTEL1):c.3168C>T (p.Gly1056=)
NM_001283009.2(RTEL1):c.3171G>A (p.Gln1057=) rs2145474713
NM_001283009.2(RTEL1):c.3177C>A (p.Ala1059=) rs539800902
NM_001283009.2(RTEL1):c.3180G>A (p.Val1060=)
NM_001283009.2(RTEL1):c.3186C>G (p.Ala1062=)
NM_001283009.2(RTEL1):c.3190C>T (p.Leu1064=) rs373448481
NM_001283009.2(RTEL1):c.3192G>A (p.Leu1064=) rs1411385727
NM_001283009.2(RTEL1):c.3204C>T (p.Arg1068=) rs774018252
NM_001283009.2(RTEL1):c.3210C>A (p.Ala1070=)
NM_001283009.2(RTEL1):c.3210C>T (p.Ala1070=)
NM_001283009.2(RTEL1):c.3213G>C (p.Leu1071=) rs1209413497
NM_001283009.2(RTEL1):c.3213G>T (p.Leu1071=)
NM_001283009.2(RTEL1):c.3216G>T (p.Gly1072=)
NM_001283009.2(RTEL1):c.321A>G (p.Pro107=)
NM_001283009.2(RTEL1):c.3225C>G (p.Gly1075=) rs1601196691
NM_001283009.2(RTEL1):c.3225C>T (p.Gly1075=)
NM_001283009.2(RTEL1):c.3231C>T (p.Ser1077=)
NM_001283009.2(RTEL1):c.3234A>G (p.Gln1078=) rs2145475264
NM_001283009.2(RTEL1):c.3237C>G (p.Leu1079=)
NM_001283009.2(RTEL1):c.3238T>C (p.Leu1080=) rs2145475291
NM_001283009.2(RTEL1):c.3246G>C (p.Ala1082=)
NM_001283009.2(RTEL1):c.3247C>T (p.Leu1083=)
NM_001283009.2(RTEL1):c.3252A>G (p.Thr1084=) rs1212700862
NM_001283009.2(RTEL1):c.3255C>G (p.Ala1085=) rs376458024
NM_001283009.2(RTEL1):c.3255C>T (p.Ala1085=)
NM_001283009.2(RTEL1):c.3258T>C (p.Tyr1086=)
NM_001283009.2(RTEL1):c.3264A>G (p.Gln1088=) rs2145475545
NM_001283009.2(RTEL1):c.3276C>A (p.Leu1092=) rs143869851
NM_001283009.2(RTEL1):c.3279C>T (p.Asp1093=) rs756242989
NM_001283009.2(RTEL1):c.3282G>A (p.Lys1094=) rs778086975
NM_001283009.2(RTEL1):c.3286C>T (p.Leu1096=) rs547956753
NM_001283009.2(RTEL1):c.3288G>C (p.Leu1096=) rs2090933337
NM_001283009.2(RTEL1):c.3295T>C (p.Leu1099=) rs771667984
NM_001283009.2(RTEL1):c.3303C>G (p.Ala1101=) rs776426684
NM_001283009.2(RTEL1):c.3303C>T (p.Ala1101=)
NM_001283009.2(RTEL1):c.3304C>T (p.Leu1102=)
NM_001283009.2(RTEL1):c.3306G>A (p.Leu1102=)
NM_001283009.2(RTEL1):c.3309C>A (p.Thr1103=)
NM_001283009.2(RTEL1):c.3309C>G (p.Thr1103=) rs773182758
NM_001283009.2(RTEL1):c.3309C>T (p.Thr1103=) rs773182758
NM_001283009.2(RTEL1):c.3315A>G (p.Ala1105=) rs1601197253
NM_001283009.2(RTEL1):c.3324G>A (p.Glu1108=) rs1229398693
NM_001283009.2(RTEL1):c.3327C>T (p.Asp1109=)
NM_001283009.2(RTEL1):c.3330C>T (p.Phe1110=) rs779425045
NM_001283009.2(RTEL1):c.3333C>G (p.Pro1111=)
NM_001283009.2(RTEL1):c.3334C>T (p.Leu1112=) rs758775121
NM_001283009.2(RTEL1):c.3337C>T (p.Leu1113=) rs2145476254
NM_001283009.2(RTEL1):c.3339G>C (p.Leu1113=)
NM_001283009.2(RTEL1):c.3343+10C>T rs2145476386
NM_001283009.2(RTEL1):c.3343+11C>G
NM_001283009.2(RTEL1):c.3343+11C>T
NM_001283009.2(RTEL1):c.3343+13G>A
NM_001283009.2(RTEL1):c.3343+14G>A
NM_001283009.2(RTEL1):c.3343+18G>A
NM_001283009.2(RTEL1):c.3343+7G>A rs2145476335
NM_001283009.2(RTEL1):c.3343+8G>A rs768036242
NM_001283009.2(RTEL1):c.3343+9C>T rs776254998
NM_001283009.2(RTEL1):c.3344-10C>T rs1173562610
NM_001283009.2(RTEL1):c.3344-11G>A
NM_001283009.2(RTEL1):c.3344-12A>C
NM_001283009.2(RTEL1):c.3344-13A>T
NM_001283009.2(RTEL1):c.3344-14G>A rs2145477193
NM_001283009.2(RTEL1):c.3344-20C>G
NM_001283009.2(RTEL1):c.3344-6C>T
NM_001283009.2(RTEL1):c.3344-8C>G
NM_001283009.2(RTEL1):c.3344-8C>T
NM_001283009.2(RTEL1):c.3360G>A (p.Val1120=)
NM_001283009.2(RTEL1):c.3369C>T (p.His1123=) rs2145477387
NM_001283009.2(RTEL1):c.3372C>T (p.His1124=) rs2145477414
NM_001283009.2(RTEL1):c.3375G>A (p.Lys1125=) rs1464913958
NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=) rs368588082
NM_001283009.2(RTEL1):c.3384C>T (p.Phe1128=) rs1431888088
NM_001283009.2(RTEL1):c.3390G>A (p.Gln1130=)
NM_001283009.2(RTEL1):c.3399A>C (p.Thr1133=) rs2145477587
NM_001283009.2(RTEL1):c.3399A>G (p.Thr1133=)
NM_001283009.2(RTEL1):c.3405G>A (p.Leu1135=) rs1390155418
NM_001283009.2(RTEL1):c.3408C>A (p.Thr1136=) rs752386852
NM_001283009.2(RTEL1):c.3408C>G (p.Thr1136=) rs752386852
NM_001283009.2(RTEL1):c.3411C>A (p.Gly1137=)
NM_001283009.2(RTEL1):c.3411C>T (p.Gly1137=)
NM_001283009.2(RTEL1):c.3414G>T (p.Arg1138=) rs1217551424
NM_001283009.2(RTEL1):c.3426C>T (p.Gly1142=)
NM_001283009.2(RTEL1):c.342G>A (p.Arg114=) rs2146150765
NM_001283009.2(RTEL1):c.3441A>T (p.Gly1147=) rs2145477908
NM_001283009.2(RTEL1):c.3447G>A (p.Gln1149=)
NM_001283009.2(RTEL1):c.3450G>A (p.Glu1150=) rs2145477956
NM_001283009.2(RTEL1):c.3453G>A (p.Glu1151=)
NM_001283009.2(RTEL1):c.3456G>A (p.Arg1152=) rs753433733
NM_001283009.2(RTEL1):c.3459T>G (p.Leu1153=) rs2145478009
NM_001283009.2(RTEL1):c.345C>T (p.Thr115=)
NM_001283009.2(RTEL1):c.3480C>T (p.Thr1160=)
NM_001283009.2(RTEL1):c.3484A>C (p.Arg1162=)
NM_001283009.2(RTEL1):c.3489T>C (p.Ala1163=)
NM_001283009.2(RTEL1):c.3492C>G (p.Pro1164=)
NM_001283009.2(RTEL1):c.3495A>G (p.Gln1165=)
NM_001283009.2(RTEL1):c.3499+10C>A rs2090945719
NM_001283009.2(RTEL1):c.3499+12G>A
NM_001283009.2(RTEL1):c.3499+12G>T
NM_001283009.2(RTEL1):c.3499+14C>T
NM_001283009.2(RTEL1):c.3499+16G>A
NM_001283009.2(RTEL1):c.3499+17G>A
NM_001283009.2(RTEL1):c.3499+17G>T
NM_001283009.2(RTEL1):c.3499+18C>A
NM_001283009.2(RTEL1):c.3499+18C>T
NM_001283009.2(RTEL1):c.3499+20G>C
NM_001283009.2(RTEL1):c.3499+5_3499+6delinsTA rs2090945455
NM_001283009.2(RTEL1):c.3499+7C>G rs1228292168
NM_001283009.2(RTEL1):c.3499+9C>A
NM_001283009.2(RTEL1):c.3499+9C>G
NM_001283009.2(RTEL1):c.3500-10C>G
NM_001283009.2(RTEL1):c.3500-12C>G
NM_001283009.2(RTEL1):c.3500-12C>T rs747484884
NM_001283009.2(RTEL1):c.3500-19C>T
NM_001283009.2(RTEL1):c.3500-4C>A
NM_001283009.2(RTEL1):c.3500-4C>G
NM_001283009.2(RTEL1):c.3500-6C>T rs781733108
NM_001283009.2(RTEL1):c.3500-8G>C
NM_001283009.2(RTEL1):c.3500-9del
NM_001283009.2(RTEL1):c.3507A>G (p.Ser1169=) rs2145479135
NM_001283009.2(RTEL1):c.3513C>G (p.Ser1171=) rs138738109
NM_001283009.2(RTEL1):c.3516G>A (p.Glu1172=) rs2145479225
NM_001283009.2(RTEL1):c.351G>A (p.Ser117=) rs1290133533
NM_001283009.2(RTEL1):c.3522C>G (p.Thr1174=) rs200086502
NM_001283009.2(RTEL1):c.3525G>A (p.Gly1175=)
NM_001283009.2(RTEL1):c.3528G>A (p.Lys1176=) rs367598119
NM_001283009.2(RTEL1):c.3531C>T (p.Thr1177=) rs2090951654
NM_001283009.2(RTEL1):c.3543C>T (p.Ile1181=) rs748910434
NM_001283009.2(RTEL1):c.3546G>C (p.Ser1182=) rs774018403
NM_001283009.2(RTEL1):c.3546G>T (p.Ser1182=)
NM_001283009.2(RTEL1):c.354A>G (p.Gln118=)
NM_001283009.2(RTEL1):c.3555T>C (p.Leu1185=)
NM_001283009.2(RTEL1):c.3558A>G (p.Arg1186=) rs2145479536
NM_001283009.2(RTEL1):c.3573G>A (p.Gly1191=) rs77864051
NM_001283009.2(RTEL1):c.3573G>C (p.Gly1191=)
NM_001283009.2(RTEL1):c.3576T>C (p.Thr1192=)
NM_001283009.2(RTEL1):c.3579G>A (p.Val1193=) rs2090953690
NM_001283009.2(RTEL1):c.3579G>T (p.Val1193=)
NM_001283009.2(RTEL1):c.3582G>A (p.Gly1194=) rs1601199790
NM_001283009.2(RTEL1):c.3594G>A (p.Glu1198=) rs1440306935
NM_001283009.2(RTEL1):c.3618A>G (p.Ser1206=) rs200452563
NM_001283009.2(RTEL1):c.3636T>C (p.Pro1212=)
NM_001283009.2(RTEL1):c.3639A>G (p.Ala1213=)
NM_001283009.2(RTEL1):c.3642A>C (p.Ala1214=)
NM_001283009.2(RTEL1):c.3642A>G (p.Ala1214=) rs1228117671
NM_001283009.2(RTEL1):c.3642A>T (p.Ala1214=)
NM_001283009.2(RTEL1):c.3663T>C (p.His1221=)
NM_001283009.2(RTEL1):c.3666G>C (p.Gly1222=) rs1408602214
NM_001283009.2(RTEL1):c.3675C>T (p.Ile1225=)
NM_001283009.2(RTEL1):c.3678T>G (p.Ala1226=) rs2145480257
NM_001283009.2(RTEL1):c.3681G>A (p.Gly1227=)
NM_001283009.2(RTEL1):c.3684G>A (p.Gln1228=) rs1329071018
NM_001283009.2(RTEL1):c.3700C>T (p.Pro1234Ser) rs1207345139
NM_001283009.2(RTEL1):c.3702G>T (p.Pro1234=) rs368176460
NM_001283009.2(RTEL1):c.3705C>T (p.Gly1235=)
NM_001283009.2(RTEL1):c.3709C>G (p.Pro1237Ala) rs1455414990
NM_001283009.2(RTEL1):c.3711C>T (p.Pro1237=)
NM_001283009.2(RTEL1):c.3714C>G (p.Leu1238=) rs750749932
NM_001283009.2(RTEL1):c.3714C>T (p.Leu1238=)
NM_001283009.2(RTEL1):c.3720A>G (p.Ala1240=)
NM_001283009.2(RTEL1):c.3723C>T (p.Gly1241=) rs2145480579
NM_001283009.2(RTEL1):c.3741T>C (p.Cys1247=)
NM_001283009.2(RTEL1):c.3746C>T (p.Ala1249Val) rs1601200584
NM_001283009.2(RTEL1):c.3754G>A (p.Val1252Met)
NM_001283009.2(RTEL1):c.3756G>C (p.Val1252=) rs2145480744
NM_001283009.2(RTEL1):c.3762C>T (p.Pro1254=) rs1412784170
NM_001283009.2(RTEL1):c.3765C>T (p.Phe1255=)
NM_001283009.2(RTEL1):c.3774T>C (p.Pro1258=) rs2145480887
NM_001283009.2(RTEL1):c.3777C>G (p.Ala1259=) rs1297204312
NM_001283009.2(RTEL1):c.3777C>T (p.Ala1259=) rs1297204312
NM_001283009.2(RTEL1):c.3780T>C (p.Cys1260=)
NM_001283009.2(RTEL1):c.3783C>T (p.Asp1261=) rs376313219
NM_001283009.2(RTEL1):c.3792C>T (p.Arg1264=) rs773596641
NM_001283009.2(RTEL1):c.3795C>T (p.Cys1265=) rs2145481027
NM_001283009.2(RTEL1):c.3801C>G (p.Ala1267=) rs368388044
NM_001283009.2(RTEL1):c.3803G>C (p.Cys1268Ser) rs1601200861
NM_001283009.2(RTEL1):c.3804C>T (p.Cys1268=) rs1601200869
NM_001283009.2(RTEL1):c.3810A>G (p.Gln1270=) rs1017294740
NM_001283009.2(RTEL1):c.3813G>A (p.Arg1271=) rs2145481166
NM_001283009.2(RTEL1):c.3822+14C>T
NM_001283009.2(RTEL1):c.3822+16C>G rs2145481282
NM_001283009.2(RTEL1):c.3822+16C>T
NM_001283009.2(RTEL1):c.3822+19C>G
NM_001283009.2(RTEL1):c.3822+19C>T
NM_001283009.2(RTEL1):c.3822+20A>C
NM_001283009.2(RTEL1):c.3822+7G>A rs2145481218
NM_001283009.2(RTEL1):c.3822+7G>T rs2145481218
NM_001283009.2(RTEL1):c.3822+8C>A
NM_001283009.2(RTEL1):c.3822+8C>G rs373109673
NM_001283009.2(RTEL1):c.3823-11T>C
NM_001283009.2(RTEL1):c.3823-12G>C
NM_001283009.2(RTEL1):c.3823-12G>T rs758193076
NM_001283009.2(RTEL1):c.3823-14C>G
NM_001283009.2(RTEL1):c.3823-17G>A
NM_001283009.2(RTEL1):c.3823-18G>C
NM_001283009.2(RTEL1):c.3823-19T>C rs2145481921
NM_001283009.2(RTEL1):c.3823-6T>C rs2090965747
NM_001283009.2(RTEL1):c.3823-7C>G rs373163953
NM_001283009.2(RTEL1):c.3823-8T>C rs748427789
NM_001283009.2(RTEL1):c.3823-9G>C
NM_001283009.2(RTEL1):c.3831G>A (p.Arg1277=) rs2145482103
NM_001283009.2(RTEL1):c.3837C>T (p.Cys1279=)
NM_001283009.2(RTEL1):c.3843C>T (p.Ala1281=) rs2145482161
NM_001283009.2(RTEL1):c.384C>T (p.Asn128=) rs145001682
NM_001283009.2(RTEL1):c.3855C>G (p.Ala1285=)
NM_001283009.2(RTEL1):c.3859A>C (p.Arg1287=) rs1346607345
NM_001283009.2(RTEL1):c.3867G>A (p.Gln1289=)
NM_001283009.2(RTEL1):c.387C>G (p.Thr129=)
NM_001283009.2(RTEL1):c.3882C>A (p.Val1294=)
NM_001283009.2(RTEL1):c.3882C>G (p.Val1294=)
NM_001283009.2(RTEL1):c.3882C>T (p.Val1294=)
NM_001283009.2(RTEL1):c.3894G>A (p.Glu1298=) rs1267242039
NM_001283009.2(RTEL1):c.3897C>T (p.Pro1299=) rs771051288
NM_001283009.2(RTEL1):c.3900G>A (p.Gln1300=) rs374244090
NM_001283009.2(RTEL1):c.390C>T (p.Ser130=)
NM_001283009.2(RTEL1):c.395+11C>A
NM_001283009.2(RTEL1):c.395+11C>T
NM_001283009.2(RTEL1):c.395+18A>C rs946202479
NM_001283009.2(RTEL1):c.395+18A>G
NM_001283009.2(RTEL1):c.395+19C>T
NM_001283009.2(RTEL1):c.395+20A>C
NM_001283009.2(RTEL1):c.395+8A>G rs992952054
NM_001283009.2(RTEL1):c.395+8A>T rs992952054
NM_001283009.2(RTEL1):c.395+9G>A rs2146151037
NM_001283009.2(RTEL1):c.396-19C>G
NM_001283009.2(RTEL1):c.396-20A>G rs1601086623
NM_001283009.2(RTEL1):c.396-6C>A rs778603711
NM_001283009.2(RTEL1):c.396-7C>T
NM_001283009.2(RTEL1):c.402G>A (p.Lys134=) rs6062480
NM_001283009.2(RTEL1):c.411G>T (p.Val137=) rs1447538895
NM_001283009.2(RTEL1):c.412C>T (p.Leu138=) rs2146153879
NM_001283009.2(RTEL1):c.423G>A (p.Arg141=)
NM_001283009.2(RTEL1):c.426G>A (p.Glu142=)
NM_001283009.2(RTEL1):c.430C>T (p.Leu144=)
NM_001283009.2(RTEL1):c.438C>T (p.Ile146=)
NM_001283009.2(RTEL1):c.471T>C (p.His157=) rs2146154143
NM_001283009.2(RTEL1):c.477+13G>A
NM_001283009.2(RTEL1):c.477+13G>C rs764646296
NM_001283009.2(RTEL1):c.477+15T>A
NM_001283009.2(RTEL1):c.477+18C>A
NM_001283009.2(RTEL1):c.477+18C>G
NM_001283009.2(RTEL1):c.477+18C>T
NM_001283009.2(RTEL1):c.477+19G>T rs6010997
NM_001283009.2(RTEL1):c.477+20C>G
NM_001283009.2(RTEL1):c.477+20C>T
NM_001283009.2(RTEL1):c.478-10C>G rs2146155464
NM_001283009.2(RTEL1):c.478-10C>T rs2146155464
NM_001283009.2(RTEL1):c.478-12T>G
NM_001283009.2(RTEL1):c.478-13C>G rs769890048
NM_001283009.2(RTEL1):c.478-13C>T
NM_001283009.2(RTEL1):c.478-14C>T
NM_001283009.2(RTEL1):c.478-18C>T
NM_001283009.2(RTEL1):c.483C>T (p.His161=) rs2090048149
NM_001283009.2(RTEL1):c.484T>C (p.Leu162=)
NM_001283009.2(RTEL1):c.492T>G (p.Arg164=) rs2146155614
NM_001283009.2(RTEL1):c.504A>G (p.Ala168=)
NM_001283009.2(RTEL1):c.519T>C (p.His173=) rs2146155750
NM_001283009.2(RTEL1):c.522C>T (p.Phe174=)
NM_001283009.2(RTEL1):c.534A>G (p.Val178=)
NM_001283009.2(RTEL1):c.538+10G>T
NM_001283009.2(RTEL1):c.538+11del
NM_001283009.2(RTEL1):c.538+12T>G
NM_001283009.2(RTEL1):c.538+14G>C
NM_001283009.2(RTEL1):c.538+16T>G
NM_001283009.2(RTEL1):c.538+17G>T
NM_001283009.2(RTEL1):c.538+19G>A
NM_001283009.2(RTEL1):c.538+20A>T rs2090049738
NM_001283009.2(RTEL1):c.538+8C>A rs749049004
NM_001283009.2(RTEL1):c.539-10A>G rs2146169484
NM_001283009.2(RTEL1):c.539-12T>C
NM_001283009.2(RTEL1):c.539-14C>A
NM_001283009.2(RTEL1):c.539-17C>T
NM_001283009.2(RTEL1):c.539-18C>G
NM_001283009.2(RTEL1):c.539-18C>T
NM_001283009.2(RTEL1):c.539-19C>T
NM_001283009.2(RTEL1):c.539-20C>T
NM_001283009.2(RTEL1):c.539-8A>C
NM_001283009.2(RTEL1):c.543A>G (p.Lys181=) rs2146169553
NM_001283009.2(RTEL1):c.547C>T (p.Leu183=) rs2090119493
NM_001283009.2(RTEL1):c.549G>A (p.Leu183=)
NM_001283009.2(RTEL1):c.54C>T (p.Tyr18=)
NM_001283009.2(RTEL1):c.552G>A (p.Glu184=)
NM_001283009.2(RTEL1):c.555G>A (p.Gln185=)
NM_001283009.2(RTEL1):c.559C>T (p.Leu187=) rs769782509
NM_001283009.2(RTEL1):c.561G>C (p.Leu187=) rs1601096162
NM_001283009.2(RTEL1):c.57A>G (p.Lys19=)
NM_001283009.2(RTEL1):c.588C>T (p.Asp196=) rs2090120009
NM_001283009.2(RTEL1):c.594C>G (p.Val198=) rs774564498
NM_001283009.2(RTEL1):c.594C>T (p.Val198=)
NM_001283009.2(RTEL1):c.597G>A (p.Lys199=)
NM_001283009.2(RTEL1):c.600C>T (p.Ser200=) rs771785679
NM_001283009.2(RTEL1):c.614+14G>T
NM_001283009.2(RTEL1):c.614+16G>T
NM_001283009.2(RTEL1):c.614+17A>G
NM_001283009.2(RTEL1):c.614+7C>T
NM_001283009.2(RTEL1):c.614+9C>G
NM_001283009.2(RTEL1):c.614+9C>T rs2090120974
NM_001283009.2(RTEL1):c.615-13C>G
NM_001283009.2(RTEL1):c.615-15C>T
NM_001283009.2(RTEL1):c.615-15CT[2]
NM_001283009.2(RTEL1):c.615-15_615-13del rs764810346
NM_001283009.2(RTEL1):c.615-18C>A
NM_001283009.2(RTEL1):c.615-18C>T
NM_001283009.2(RTEL1):c.615-4C>G
NM_001283009.2(RTEL1):c.615-6del
NM_001283009.2(RTEL1):c.618G>A (p.Val206=) rs181508842
NM_001283009.2(RTEL1):c.621C>T (p.Cys207=)
NM_001283009.2(RTEL1):c.624T>G (p.Pro208=) rs1396123455
NM_001283009.2(RTEL1):c.627C>T (p.Tyr209=)
NM_001283009.2(RTEL1):c.631C>T (p.Leu211=)
NM_001283009.2(RTEL1):c.639G>C (p.Arg213=) rs2146176191
NM_001283009.2(RTEL1):c.642C>T (p.Asn214=)
NM_001283009.2(RTEL1):c.660C>T (p.Asp220=)
NM_001283009.2(RTEL1):c.675G>A (p.Pro225=) rs762854518
NM_001283009.2(RTEL1):c.675G>T (p.Pro225=) rs762854518
NM_001283009.2(RTEL1):c.684C>T (p.Tyr228=)
NM_001283009.2(RTEL1):c.687G>A (p.Leu229=)
NM_001283009.2(RTEL1):c.688T>C (p.Leu230=)
NM_001283009.2(RTEL1):c.699+10C>G
NM_001283009.2(RTEL1):c.699+10C>T rs2090161637
NM_001283009.2(RTEL1):c.699+15C>T
NM_001283009.2(RTEL1):c.699+16T>C
NM_001283009.2(RTEL1):c.699+17G>T rs757244305
NM_001283009.2(RTEL1):c.699+18T>C
NM_001283009.2(RTEL1):c.699+19_699+22dup
NM_001283009.2(RTEL1):c.699+20G>A
NM_001283009.2(RTEL1):c.699+7G>A
NM_001283009.2(RTEL1):c.699+7G>T rs2090161521
NM_001283009.2(RTEL1):c.699+8C>T rs891838113
NM_001283009.2(RTEL1):c.69G>A (p.Glu23=)
NM_001283009.2(RTEL1):c.700-10C>T rs1477756577
NM_001283009.2(RTEL1):c.700-13C>T
NM_001283009.2(RTEL1):c.700-14T>G rs2146193119
NM_001283009.2(RTEL1):c.700-18C>T
NM_001283009.2(RTEL1):c.700-19C>T
NM_001283009.2(RTEL1):c.700-20C>G
NM_001283009.2(RTEL1):c.700-20C>T
NM_001283009.2(RTEL1):c.700-4G>A
NM_001283009.2(RTEL1):c.700-4G>C
NM_001283009.2(RTEL1):c.700-5T>C
NM_001283009.2(RTEL1):c.700-6C>T rs2146193173
NM_001283009.2(RTEL1):c.700-7C>A rs762108680
NM_001283009.2(RTEL1):c.700-7C>G rs762108680
NM_001283009.2(RTEL1):c.700-7C>T rs762108680
NM_001283009.2(RTEL1):c.700-8T>C
NM_001283009.2(RTEL1):c.702C>T (p.Ser234=)
NM_001283009.2(RTEL1):c.711A>G (p.Ala237=) rs2090266105
NM_001283009.2(RTEL1):c.723C>T (p.Asp241=) rs755475482
NM_001283009.2(RTEL1):c.726G>C (p.Leu242=)
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=) rs919917378
NM_001283009.2(RTEL1):c.732G>T (p.Gly244=)
NM_001283009.2(RTEL1):c.735A>C (p.Thr245=) rs2090266464
NM_001283009.2(RTEL1):c.744C>T (p.Ile248=) rs748518636
NM_001283009.2(RTEL1):c.747T>C (p.Phe249=) rs755757008
NM_001283009.2(RTEL1):c.756T>C (p.Ala252=) rs2146193395
NM_001283009.2(RTEL1):c.765+10del rs2090267244
NM_001283009.2(RTEL1):c.765+11G>T
NM_001283009.2(RTEL1):c.765+18T>G
NM_001283009.2(RTEL1):c.765+7C>A rs745788486
NM_001283009.2(RTEL1):c.765+7C>G
NM_001283009.2(RTEL1):c.765+9C>A rs1445188665
NM_001283009.2(RTEL1):c.765+9C>T rs1445188665
NM_001283009.2(RTEL1):c.766-14T>C
NM_001283009.2(RTEL1):c.766-15G>A
NM_001283009.2(RTEL1):c.766-20C>T
NM_001283009.2(RTEL1):c.766-4C>T rs778247916
NM_001283009.2(RTEL1):c.766-6C>G
NM_001283009.2(RTEL1):c.766-6C>T
NM_001283009.2(RTEL1):c.766-6del
NM_001283009.2(RTEL1):c.783A>G (p.Glu261=)
NM_001283009.2(RTEL1):c.789A>G (p.Ala263=) rs2090296302
NM_001283009.2(RTEL1):c.792C>G (p.Ser264=) rs768600790
NM_001283009.2(RTEL1):c.792C>T (p.Ser264=) rs768600790
NM_001283009.2(RTEL1):c.801G>T (p.Leu267=)
NM_001283009.2(RTEL1):c.810T>C (p.His270=) rs2090296595
NM_001283009.2(RTEL1):c.81G>A (p.Lys27=) rs1475151056
NM_001283009.2(RTEL1):c.828G>A (p.Leu276=) rs2146197796
NM_001283009.2(RTEL1):c.834C>T (p.Val278=)
NM_001283009.2(RTEL1):c.847C>T (p.Leu283=) rs1203271959
NM_001283009.2(RTEL1):c.849G>A (p.Leu283=) rs1278146543
NM_001283009.2(RTEL1):c.84C>T (p.Val28=)
NM_001283009.2(RTEL1):c.855G>A (p.Glu285=)
NM_001283009.2(RTEL1):c.858G>A (p.Gln286=)
NM_001283009.2(RTEL1):c.85C>T (p.Leu29=)
NM_001283009.2(RTEL1):c.861C>G (p.Thr287=) rs2146197933
NM_001283009.2(RTEL1):c.864G>A (p.Lys288=)
NM_001283009.2(RTEL1):c.870G>T (p.Ala290=)
NM_001283009.2(RTEL1):c.87G>A (p.Leu29=)
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=) rs146100165
NM_001283009.2(RTEL1):c.903G>C (p.Ala301=)
NM_001283009.2(RTEL1):c.912C>A (p.Pro304=) rs2090300245
NM_001283009.2(RTEL1):c.919+14C>T
NM_001283009.2(RTEL1):c.919+16G>T
NM_001283009.2(RTEL1):c.919+17_919+107del rs1601119996
NM_001283009.2(RTEL1):c.919+18C>T
NM_001283009.2(RTEL1):c.919+20G>A
NM_001283009.2(RTEL1):c.919+36_919+126del
NM_001283009.2(RTEL1):c.919+8C>T
NM_001283009.2(RTEL1):c.919+9A>G rs370171576
NM_001283009.2(RTEL1):c.920-11C>G
NM_001283009.2(RTEL1):c.920-17G>A
NM_001283009.2(RTEL1):c.920-20G>A
NM_001283009.2(RTEL1):c.920-20_920-12del rs781615421
NM_001283009.2(RTEL1):c.920-6G>A
NM_001283009.2(RTEL1):c.920-6G>T rs754549270
NM_001283009.2(RTEL1):c.920-7T>C
NM_001283009.2(RTEL1):c.920-9C>G rs910613998
NM_001283009.2(RTEL1):c.921G>C (p.Gly307=) rs2146210729
NM_001283009.2(RTEL1):c.927C>T (p.Asn309=) rs2146210742
NM_001283009.2(RTEL1):c.934C>T (p.Leu312=)
NM_001283009.2(RTEL1):c.936G>C (p.Leu312=) rs41302954
NM_001283009.2(RTEL1):c.951G>A (p.Lys317=) rs901129251
NM_001283009.2(RTEL1):c.952C>T (p.Leu318=)
NM_001283009.2(RTEL1):c.958+12C>T
NM_001283009.2(RTEL1):c.958+14T>C
NM_001283009.2(RTEL1):c.958+15C>A
NM_001283009.2(RTEL1):c.958+16C>T
NM_001283009.2(RTEL1):c.958+19G>A
NM_001283009.2(RTEL1):c.958+20C>T
NM_001283009.2(RTEL1):c.958+9T>G rs748577663
NM_001283009.2(RTEL1):c.959-13C>T
NM_001283009.2(RTEL1):c.959-17A>G rs374694007
NM_001283009.2(RTEL1):c.959-17A>T
NM_001283009.2(RTEL1):c.959-7C>T
NM_001283009.2(RTEL1):c.959-9G>C rs373436285
NM_001283009.2(RTEL1):c.966G>C (p.Leu322=) rs1168361620
NM_001283009.2(RTEL1):c.972C>G (p.Arg324=)
NM_001363.5(DKC1):c.1020A>G (p.Gly340=)
NM_001363.5(DKC1):c.1036+10G>C
NM_001363.5(DKC1):c.1036+13G>A
NM_001363.5(DKC1):c.1036+19T>G
NM_001363.5(DKC1):c.1036+7G>A
NM_001363.5(DKC1):c.1037-13T>A
NM_001363.5(DKC1):c.1037-19C>T
NM_001363.5(DKC1):c.1037-20T>C
NM_001363.5(DKC1):c.1037-8G>A
NM_001363.5(DKC1):c.1059G>C (p.Ala353=)
NM_001363.5(DKC1):c.1065C>A (p.Ile355=)
NM_001363.5(DKC1):c.1155+15G>A
NM_001363.5(DKC1):c.1155+15del
NM_001363.5(DKC1):c.1155+19C>T
NM_001363.5(DKC1):c.1156-10G>A
NM_001363.5(DKC1):c.1156-13G>A
NM_001363.5(DKC1):c.1156-14del rs782420759
NM_001363.5(DKC1):c.1156-16C>G
NM_001363.5(DKC1):c.1156-17C>T
NM_001363.5(DKC1):c.1164G>A (p.Gln388=)
NM_001363.5(DKC1):c.1171C>T (p.Leu391=)
NM_001363.5(DKC1):c.1179C>A (p.Ile393=) rs2148516390
NM_001363.5(DKC1):c.1188C>T (p.Gly396=)
NM_001363.5(DKC1):c.1194G>A (p.Leu398=)
NM_001363.5(DKC1):c.1233C>T (p.Thr411=)
NM_001363.5(DKC1):c.1245G>A (p.Glu415=) rs2148516440
NM_001363.5(DKC1):c.1259+7dup
NM_001363.5(DKC1):c.1259+8C>T
NM_001363.5(DKC1):c.1260-11C>T
NM_001363.5(DKC1):c.1260-12C>T
NM_001363.5(DKC1):c.1266T>G (p.Ser422=) rs2148516857
NM_001363.5(DKC1):c.1269C>T (p.Ala423=)
NM_001363.5(DKC1):c.126C>G (p.Ser42=) rs2148509477
NM_001363.5(DKC1):c.1284T>A (p.Val428=)
NM_001363.5(DKC1):c.1294G>T (p.Val432Leu)
NM_001363.5(DKC1):c.12G>A (p.Ala4=)
NM_001363.5(DKC1):c.1302C>T (p.Ala434=)
NM_001363.5(DKC1):c.1332T>C (p.Thr444=)
NM_001363.5(DKC1):c.1338+10A>T
NM_001363.5(DKC1):c.1338+14T>C
NM_001363.5(DKC1):c.1338+15G>C
NM_001363.5(DKC1):c.1338+18C>G
NM_001363.5(DKC1):c.1338+20C>T rs2148516959
NM_001363.5(DKC1):c.1339-13G>A
NM_001363.5(DKC1):c.1339-19C>T
NM_001363.5(DKC1):c.1339-20A>C
NM_001363.5(DKC1):c.1339-8C>T
NM_001363.5(DKC1):c.1356G>A (p.Glu452=)
NM_001363.5(DKC1):c.1383A>G (p.Ala461=) rs1293654532
NM_001363.5(DKC1):c.1404G>A (p.Lys468=)
NM_001363.5(DKC1):c.1416G>A (p.Lys472=) rs2148517591
NM_001363.5(DKC1):c.1473T>C (p.Asp491=)
NM_001363.5(DKC1):c.1476+11A>G rs2148517651
NM_001363.5(DKC1):c.1476+14C>T
NM_001363.5(DKC1):c.1477-10T>C
NM_001363.5(DKC1):c.1477-10_1477-9del
NM_001363.5(DKC1):c.1477-13T>G
NM_001363.5(DKC1):c.1477-20T>C
NM_001363.5(DKC1):c.1477-28_1477-18del
NM_001363.5(DKC1):c.1477-8C>G
NM_001363.5(DKC1):c.1479C>T (p.Asp493=)
NM_001363.5(DKC1):c.147G>A (p.Thr49=)
NM_001363.5(DKC1):c.1482T>C (p.Ser494=) rs2148518000
NM_001363.5(DKC1):c.1494GAA[9] (p.Lys504_Lys505dup) rs782576893
NM_001363.5(DKC1):c.1531T>C (p.Leu511=)
NM_001363.5(DKC1):c.159C>A (p.Pro53=)
NM_001363.5(DKC1):c.159C>T (p.Pro53=) rs2148509505
NM_001363.5(DKC1):c.16+10G>T
NM_001363.5(DKC1):c.16+11C>T
NM_001363.5(DKC1):c.16+18C>G
NM_001363.5(DKC1):c.16+24_16+39del rs2148507554
NM_001363.5(DKC1):c.16+8C>T
NM_001363.5(DKC1):c.17-10G>A rs2148509118
NM_001363.5(DKC1):c.17-14_17-13del rs782596086
NM_001363.5(DKC1):c.17-16G>A
NM_001363.5(DKC1):c.17-16G>T
NM_001363.5(DKC1):c.17-7T>A
NM_001363.5(DKC1):c.17-9T>A
NM_001363.5(DKC1):c.171+11A>G
NM_001363.5(DKC1):c.171+16C>G
NM_001363.5(DKC1):c.171+16C>T
NM_001363.5(DKC1):c.171+17G>A
NM_001363.5(DKC1):c.171+8G>A rs2071734340
NM_001363.5(DKC1):c.172-12G>C
NM_001363.5(DKC1):c.172-18_172-14del
NM_001363.5(DKC1):c.180T>C (p.Asp60=)
NM_001363.5(DKC1):c.189T>C (p.Asn63=)
NM_001363.5(DKC1):c.219A>G (p.Ala73=)
NM_001363.5(DKC1):c.243A>G (p.Arg81=)
NM_001363.5(DKC1):c.252G>A (p.Gly84=)
NM_001363.5(DKC1):c.263+11G>A
NM_001363.5(DKC1):c.263+13del rs1343619839
NM_001363.5(DKC1):c.263+20A>C
NM_001363.5(DKC1):c.263+7G>T
NM_001363.5(DKC1):c.264-10T>C
NM_001363.5(DKC1):c.264-14T>C
NM_001363.5(DKC1):c.264-9C>T rs1300109572
NM_001363.5(DKC1):c.288G>A (p.Lys96=)
NM_001363.5(DKC1):c.300C>G (p.Pro100=)
NM_001363.5(DKC1):c.30A>G (p.Pro10=)
NM_001363.5(DKC1):c.315G>A (p.Val105=) rs2148509927
NM_001363.5(DKC1):c.354A>C (p.Thr118=)
NM_001363.5(DKC1):c.417C>T (p.Ala139=)
NM_001363.5(DKC1):c.420T>C (p.Thr140=)
NM_001363.5(DKC1):c.42G>A (p.Lys14=)
NM_001363.5(DKC1):c.438A>G (p.Gln146=)
NM_001363.5(DKC1):c.448+11G>A
NM_001363.5(DKC1):c.448+18G>A rs2148510020
NM_001363.5(DKC1):c.448+19G>A
NM_001363.5(DKC1):c.448+19G>C
NM_001363.5(DKC1):c.448+19G>T
NM_001363.5(DKC1):c.449-13T>C rs2148510453
NM_001363.5(DKC1):c.449-17C>T
NM_001363.5(DKC1):c.475C>T (p.Leu159=)
NM_001363.5(DKC1):c.498G>A (p.Gly166=)
NM_001363.5(DKC1):c.498G>C (p.Gly166=)
NM_001363.5(DKC1):c.513+12A>G
NM_001363.5(DKC1):c.513+19G>A
NM_001363.5(DKC1):c.513+20G>A
NM_001363.5(DKC1):c.513+7_513+8del
NM_001363.5(DKC1):c.514-10T>G
NM_001363.5(DKC1):c.514-12G>A
NM_001363.5(DKC1):c.514-14G>T
NM_001363.5(DKC1):c.514-18_514-15del
NM_001363.5(DKC1):c.514-4T>G
NM_001363.5(DKC1):c.514-8G>T rs2148510635
NM_001363.5(DKC1):c.516C>T (p.Ala172=)
NM_001363.5(DKC1):c.522A>G (p.Glu174=) rs782471921
NM_001363.5(DKC1):c.531A>G (p.Thr177=)
NM_001363.5(DKC1):c.540A>G (p.Leu180=) rs781897987
NM_001363.5(DKC1):c.546G>A (p.Gln182=)
NM_001363.5(DKC1):c.576G>A (p.Arg192=)
NM_001363.5(DKC1):c.579G>A (p.Gln193=)
NM_001363.5(DKC1):c.591G>A (p.Arg197=)
NM_001363.5(DKC1):c.59A>G (p.Lys20Arg)
NM_001363.5(DKC1):c.621C>T (p.Tyr207=)
NM_001363.5(DKC1):c.640+8A>C
NM_001363.5(DKC1):c.641-19_641-18del
NM_001363.5(DKC1):c.641-9G>T
NM_001363.5(DKC1):c.669C>T (p.Gly223=)
NM_001363.5(DKC1):c.684A>G (p.Thr228=)
NM_001363.5(DKC1):c.690T>C (p.Cys230=)
NM_001363.5(DKC1):c.709T>C (p.Leu237=)
NM_001363.5(DKC1):c.753T>A (p.Ser251=)
NM_001363.5(DKC1):c.75A>G (p.Glu25=) rs2148509198
NM_001363.5(DKC1):c.771+11C>T
NM_001363.5(DKC1):c.771+11del
NM_001363.5(DKC1):c.771+12G>A
NM_001363.5(DKC1):c.771+12G>T
NM_001363.5(DKC1):c.771+15G>T
NM_001363.5(DKC1):c.771+16del
NM_001363.5(DKC1):c.771+19G>C rs2148511663
NM_001363.5(DKC1):c.772-10del
NM_001363.5(DKC1):c.772-15A>G
NM_001363.5(DKC1):c.772-9G>A
NM_001363.5(DKC1):c.772-9G>C
NM_001363.5(DKC1):c.795T>C (p.Asp265=)
NM_001363.5(DKC1):c.816G>C (p.Leu272=)
NM_001363.5(DKC1):c.822T>C (p.Asp274=) rs1002559487
NM_001363.5(DKC1):c.828C>T (p.His276=) rs1603429504
NM_001363.5(DKC1):c.84+10A>T rs782718798
NM_001363.5(DKC1):c.84+13G>C
NM_001363.5(DKC1):c.84+15dup
NM_001363.5(DKC1):c.84+16T>A
NM_001363.5(DKC1):c.84+8del
NM_001363.5(DKC1):c.843C>T (p.Tyr281=)
NM_001363.5(DKC1):c.85-18A>G
NM_001363.5(DKC1):c.867G>A (p.Leu289=)
NM_001363.5(DKC1):c.877T>C (p.Leu293=) rs1603429508
NM_001363.5(DKC1):c.882A>G (p.Thr294=)
NM_001363.5(DKC1):c.894G>T (p.Arg298=)
NM_001363.5(DKC1):c.897G>A (p.Leu299=)
NM_001363.5(DKC1):c.906A>G (p.Lys302=)
NM_001363.5(DKC1):c.90A>C (p.Ile30=)
NM_001363.5(DKC1):c.915+17G>A rs2148512556
NM_001363.5(DKC1):c.915+19G>A
NM_001363.5(DKC1):c.916-11C>T
NM_001363.5(DKC1):c.916-12C>G
NM_001363.5(DKC1):c.916-15dup rs1218146343
NM_001363.5(DKC1):c.916-5T>C rs2148513598
NM_001363.5(DKC1):c.916-6C>T rs782345716
NM_001363.5(DKC1):c.930C>T (p.Cys310=)
NM_001363.5(DKC1):c.939C>T (p.Ala313=)
NM_001363.5(DKC1):c.969T>C (p.Tyr323=) rs2148513634
NM_001363.5(DKC1):c.984G>A (p.Glu328=)
NM_001363.5(DKC1):c.999T>C (p.Ile333=)
NM_001363.5(DKC1):c.99T>C (p.Ala33=)
NM_001399.5(EDA):c.1008C>T (p.Ile336=) rs746241095
NM_001399.5(EDA):c.1010A>T (p.Glu337Val)
NM_001399.5(EDA):c.1026C>T (p.Asn342=) rs2147519135
NM_001399.5(EDA):c.1035T>C (p.Thr345=) rs2147519148
NM_001399.5(EDA):c.1041T>C (p.Tyr347=) rs2020253809
NM_001399.5(EDA):c.1068C>T (p.Ala356=)
NM_001399.5(EDA):c.1074G>A (p.Gln358=) rs2147519229
NM_001399.5(EDA):c.111G>C (p.Gly37=) rs1301485954
NM_001399.5(EDA):c.1143G>T (p.Gly381=)
NM_001399.5(EDA):c.1144G>T (p.Ala382Ser)
NM_001399.5(EDA):c.1167T>G (p.Pro389=)
NM_001399.5(EDA):c.121C>T (p.Leu41=) rs2147197470
NM_001399.5(EDA):c.166C>T (p.Leu56=)
NM_001399.5(EDA):c.183C>T (p.Tyr61=) rs132630318
NM_001399.5(EDA):c.195C>A (p.Arg65=) rs2147197722
NM_001399.5(EDA):c.198G>A (p.Ser66=)
NM_001399.5(EDA):c.198G>C (p.Ser66=)
NM_001399.5(EDA):c.218G>C (p.Gly73Ala)
NM_001399.5(EDA):c.225G>A (p.Glu75=)
NM_001399.5(EDA):c.231C>T (p.Arg77=)
NM_001399.5(EDA):c.234T>A (p.Leu78=) rs1569272277
NM_001399.5(EDA):c.243G>C (p.Ser81=)
NM_001399.5(EDA):c.243_251del (p.Pro84_Thr86del)
NM_001399.5(EDA):c.249C>T (p.Thr83=) rs769141538
NM_001399.5(EDA):c.258C>T (p.Thr86=) rs1931955604
NM_001399.5(EDA):c.273C>T (p.Ser91=)
NM_001399.5(EDA):c.288C>G (p.Leu96=)
NM_001399.5(EDA):c.28G>C (p.Glu10Gln)
NM_001399.5(EDA):c.318T>C (p.Leu106=) rs1602222372
NM_001399.5(EDA):c.321G>A (p.Gly107=) rs2147198265
NM_001399.5(EDA):c.321G>C (p.Gly107=)
NM_001399.5(EDA):c.327G>C (p.Pro109=)
NM_001399.5(EDA):c.345A>T (p.Pro115=) rs775366784
NM_001399.5(EDA):c.354G>A (p.Pro118=)
NM_001399.5(EDA):c.354G>C (p.Pro118=) rs762842929
NM_001399.5(EDA):c.366A>C (p.Ala122=) rs1931965002
NM_001399.5(EDA):c.36G>A (p.Leu12=)
NM_001399.5(EDA):c.375T>C (p.Ser125=)
NM_001399.5(EDA):c.387C>G (p.Asp129Glu)
NM_001399.5(EDA):c.396+9C>T rs1931971305
NM_001399.5(EDA):c.397-12T>C
NM_001399.5(EDA):c.397-16_397-11del
NM_001399.5(EDA):c.397-17A>G
NM_001399.5(EDA):c.397-19G>A
NM_001399.5(EDA):c.397-6T>C
NM_001399.5(EDA):c.39T>C (p.Pro13=)
NM_001399.5(EDA):c.406T>C (p.Leu136=)
NM_001399.5(EDA):c.414C>T (p.Phe138=)
NM_001399.5(EDA):c.42A>G (p.Ala14=)
NM_001399.5(EDA):c.456G>A (p.Arg152=) rs2147419121
NM_001399.5(EDA):c.459T>C (p.Arg153=) rs2147419146
NM_001399.5(EDA):c.459T>G (p.Arg153=)
NM_001399.5(EDA):c.462T>C (p.Val154=)
NM_001399.5(EDA):c.471T>C (p.Asn157=)
NM_001399.5(EDA):c.48G>A (p.Ala16=) rs2147197188
NM_001399.5(EDA):c.497C>T (p.Ala166Val)
NM_001399.5(EDA):c.502+10_502+14del
NM_001399.5(EDA):c.502+16T>C
NM_001399.5(EDA):c.503-4A>C rs1602614380
NM_001399.5(EDA):c.526+17A>G
NM_001399.5(EDA):c.526+19A>G
NM_001399.5(EDA):c.527-18del
NM_001399.5(EDA):c.527-19A>G
NM_001399.5(EDA):c.527-7T>C rs2147509468
NM_001399.5(EDA):c.527-9A>G
NM_001399.5(EDA):c.528A>G (p.Gly176=) rs2147509479
NM_001399.5(EDA):c.540A>G (p.Gly180=)
NM_001399.5(EDA):c.546T>G (p.Pro182=) rs758937877
NM_001399.5(EDA):c.552C>A (p.Pro184=)
NM_001399.5(EDA):c.564A>G (p.Pro188=)
NM_001399.5(EDA):c.570C>T (p.Pro190=) rs1328353332
NM_001399.5(EDA):c.582A>T (p.Pro194=) rs2147509679
NM_001399.5(EDA):c.588C>A (p.Pro196=) rs2020137851
NM_001399.5(EDA):c.597C>T (p.Pro199=)
NM_001399.5(EDA):c.612G>A (p.Gly204=)
NM_001399.5(EDA):c.636T>A (p.Thr212=)
NM_001399.5(EDA):c.66C>T (p.Ser22=) rs2147197257
NM_001399.5(EDA):c.672T>C (p.Gly224=)
NM_001399.5(EDA):c.684C>T (p.Pro228=) rs1255651906
NM_001399.5(EDA):c.706+10_706+11del rs1347482754
NM_001399.5(EDA):c.706+13G>C
NM_001399.5(EDA):c.706+14T>A
NM_001399.5(EDA):c.706+14T>C
NM_001399.5(EDA):c.706+8C>A
NM_001399.5(EDA):c.707-15T>G
NM_001399.5(EDA):c.707-17C>A
NM_001399.5(EDA):c.707-7T>C
NM_001399.5(EDA):c.714T>C (p.Ala238=) rs2147511706
NM_001399.5(EDA):c.732A>T (p.Arg244=) rs2147511739
NM_001399.5(EDA):c.741+17T>C
NM_001399.5(EDA):c.741+18C>T
NM_001399.5(EDA):c.742-20_742-17del
NM_001399.5(EDA):c.744A>G (p.Pro248=) rs2147512873
NM_001399.5(EDA):c.750G>T (p.Val250=)
NM_001399.5(EDA):c.753G>T (p.Val251=)
NM_001399.5(EDA):c.759A>T (p.Leu253=)
NM_001399.5(EDA):c.771G>A (p.Gly257=) rs2147512913
NM_001399.5(EDA):c.777A>G (p.Ala259=) rs777145505
NM_001399.5(EDA):c.793+10A>G
NM_001399.5(EDA):c.793+19del
NM_001399.5(EDA):c.793+20C>G
NM_001399.5(EDA):c.794-11C>T rs2147516230
NM_001399.5(EDA):c.794-14_794-12del
NM_001399.5(EDA):c.794-7T>C
NM_001399.5(EDA):c.798T>C (p.Leu266=) rs2147516257
NM_001399.5(EDA):c.798T>G (p.Leu266=)
NM_001399.5(EDA):c.810G>A (p.Val270=)
NM_001399.5(EDA):c.831C>T (p.Ile277=)
NM_001399.5(EDA):c.852T>C (p.Phe284=) rs2147516387
NM_001399.5(EDA):c.858A>G (p.Leu286=) rs2147516404
NM_001399.5(EDA):c.867C>A (p.Arg289=) rs1471642587
NM_001399.5(EDA):c.867C>T (p.Arg289=)
NM_001399.5(EDA):c.873G>A (p.Gly291=)
NM_001399.5(EDA):c.885A>G (p.Val295=)
NM_001399.5(EDA):c.886C>T (p.Leu296=)
NM_001399.5(EDA):c.894C>T (p.Asp298=) rs1602623024
NM_001399.5(EDA):c.897C>T (p.Gly299=)
NM_001399.5(EDA):c.903C>T (p.Tyr301=)
NM_001399.5(EDA):c.90C>A (p.Ala30=)
NM_001399.5(EDA):c.924+14T>G
NM_001399.5(EDA):c.924+15A>C
NM_001399.5(EDA):c.924+20T>G
NM_001399.5(EDA):c.924+8C>A rs370406516
NM_001399.5(EDA):c.924+8C>T
NM_001399.5(EDA):c.924+9G>A
NM_001399.5(EDA):c.925-11C>T
NM_001399.5(EDA):c.925-13G>A
NM_001399.5(EDA):c.925-17T>G
NM_001399.5(EDA):c.927A>G (p.Val309=)
NM_001399.5(EDA):c.930C>T (p.Tyr310=)
NM_001399.5(EDA):c.960T>C (p.Tyr320=)
NM_001399.5(EDA):c.97C>A (p.Arg33=)
NM_001399.5(EDA):c.988C>T (p.Leu330=) rs2147519044
NM_001399.5(EDA):c.993G>A (p.Gln331=)
NM_001814.6(CTSC):c.1011C>T (p.Cys337=)
NM_001814.6(CTSC):c.1017T>C (p.Arg339=)
NM_001814.6(CTSC):c.1020T>C (p.Tyr340=)
NM_001814.6(CTSC):c.1038C>T (p.His346=) rs1355697311
NM_001814.6(CTSC):c.1053C>T (p.Phe351=)
NM_001814.6(CTSC):c.1062C>T (p.Gly354=)
NM_001814.6(CTSC):c.1086T>G (p.Leu362=)
NM_001814.6(CTSC):c.1104G>T (p.Gly368=)
NM_001814.6(CTSC):c.1119T>A (p.Ala373=)
NM_001814.6(CTSC):c.111C>T (p.Gly37=)
NM_001814.6(CTSC):c.1125A>G (p.Glu375=)
NM_001814.6(CTSC):c.1140C>T (p.Phe380=)
NM_001814.6(CTSC):c.1149C>T (p.Tyr383=)
NM_001814.6(CTSC):c.1158G>T (p.Gly386=)
NM_001814.6(CTSC):c.1161C>T (p.Ile387=)
NM_001814.6(CTSC):c.1179A>G (p.Leu393=)
NM_001814.6(CTSC):c.1188T>G (p.Pro396=)
NM_001814.6(CTSC):c.1194C>T (p.Asn398=)
NM_001814.6(CTSC):c.1197C>T (p.Pro399=)
NM_001814.6(CTSC):c.1227T>G (p.Leu409=)
NM_001814.6(CTSC):c.1233C>T (p.Gly411=)
NM_001814.6(CTSC):c.1239C>T (p.Gly413=)
NM_001814.6(CTSC):c.1242T>C (p.Thr414=)
NM_001814.6(CTSC):c.1254T>A (p.Ser418=)
NM_001814.6(CTSC):c.1257G>A (p.Gly419=)
NM_001814.6(CTSC):c.1257G>T (p.Gly419=)
NM_001814.6(CTSC):c.1272T>A (p.Ile424=)
NM_001814.6(CTSC):c.1272T>C (p.Ile424=)
NM_001814.6(CTSC):c.1284C>T (p.Ser428=)
NM_001814.6(CTSC):c.1320G>A (p.Arg440=)
NM_001814.6(CTSC):c.1323C>T (p.Ile441=)
NM_001814.6(CTSC):c.1335T>A (p.Thr445=)
NM_001814.6(CTSC):c.1338T>C (p.Asp446=)
NM_001814.6(CTSC):c.1341G>A (p.Glu447=)
NM_001814.6(CTSC):c.1344T>C (p.Cys448=)
NM_001814.6(CTSC):c.1377A>G (p.Pro459=)
NM_001814.6(CTSC):c.138C>T (p.Ser46=)
NM_001814.6(CTSC):c.1392G>A (p.Ter464=)
NM_001814.6(CTSC):c.144C>G (p.Ser48=)
NM_001814.6(CTSC):c.147G>A (p.Gln49=)
NM_001814.6(CTSC):c.15C>T (p.Pro5=)
NM_001814.6(CTSC):c.162C>T (p.Cys54=)
NM_001814.6(CTSC):c.165G>A (p.Ser55=)
NM_001814.6(CTSC):c.168T>G (p.Val56=)
NM_001814.6(CTSC):c.172+10C>T
NM_001814.6(CTSC):c.172+11G>C
NM_001814.6(CTSC):c.172+13C>T
NM_001814.6(CTSC):c.172+15C>T
NM_001814.6(CTSC):c.172+19A>C
NM_001814.6(CTSC):c.172+8G>C
NM_001814.6(CTSC):c.172+8G>T
NM_001814.6(CTSC):c.173-10_173-7del
NM_001814.6(CTSC):c.173-11T>C
NM_001814.6(CTSC):c.173-15T>A
NM_001814.6(CTSC):c.173-15T>G
NM_001814.6(CTSC):c.173-19T>C
NM_001814.6(CTSC):c.173-6C>T
NM_001814.6(CTSC):c.173-7T>G
NM_001814.6(CTSC):c.173-8T>G
NM_001814.6(CTSC):c.174A>G (p.Gly58=)
NM_001814.6(CTSC):c.180A>G (p.Gln60=)
NM_001814.6(CTSC):c.189A>G (p.Lys63=)
NM_001814.6(CTSC):c.18C>T (p.Ser6=)
NM_001814.6(CTSC):c.195G>A (p.Val65=)
NM_001814.6(CTSC):c.210G>A (p.Lys70=)
NM_001814.6(CTSC):c.213G>T (p.Leu71=)
NM_001814.6(CTSC):c.21G>A (p.Leu7=)
NM_001814.6(CTSC):c.222A>G (p.Ala74=)
NM_001814.6(CTSC):c.22C>T (p.Leu8=)
NM_001814.6(CTSC):c.234T>C (p.Leu78=)
NM_001814.6(CTSC):c.237C>T (p.Gly79=)
NM_001814.6(CTSC):c.243T>G (p.Ser81=)
NM_001814.6(CTSC):c.249T>C (p.His83=)
NM_001814.6(CTSC):c.255C>T (p.Thr85=)
NM_001814.6(CTSC):c.273C>T (p.Gly91=)
NM_001814.6(CTSC):c.27C>T (p.Leu9=)
NM_001814.6(CTSC):c.288G>A (p.Leu96=)
NM_001814.6(CTSC):c.318+13G>T
NM_001814.6(CTSC):c.318+17G>T
NM_001814.6(CTSC):c.318+20G>T
NM_001814.6(CTSC):c.318+9T>C
NM_001814.6(CTSC):c.319-10T>C
NM_001814.6(CTSC):c.319-11T>C
NM_001814.6(CTSC):c.319-17C>A
NM_001814.6(CTSC):c.319-17C>G
NM_001814.6(CTSC):c.319-17C>T
NM_001814.6(CTSC):c.319-19_319-13del
NM_001814.6(CTSC):c.319-20T>A
NM_001814.6(CTSC):c.319-4G>T
NM_001814.6(CTSC):c.319-5T>C
NM_001814.6(CTSC):c.351C>T (p.Tyr117=)
NM_001814.6(CTSC):c.357C>T (p.Asn119=)
NM_001814.6(CTSC):c.363A>G (p.Thr121=)
NM_001814.6(CTSC):c.369T>C (p.Thr123=)
NM_001814.6(CTSC):c.393C>T (p.Gly131=)
NM_001814.6(CTSC):c.408T>C (p.Cys136=)
NM_001814.6(CTSC):c.40C>T (p.Leu14=)
NM_001814.6(CTSC):c.414C>A (p.Thr138=)
NM_001814.6(CTSC):c.414C>T (p.Thr138=)
NM_001814.6(CTSC):c.42G>C (p.Leu14=)
NM_001814.6(CTSC):c.432T>C (p.Thr144=)
NM_001814.6(CTSC):c.450T>C (p.Tyr150=)
NM_001814.6(CTSC):c.480G>A (p.Gln160=)
NM_001814.6(CTSC):c.485+11A>G
NM_001814.6(CTSC):c.485+12C>T
NM_001814.6(CTSC):c.486-14A>C
NM_001814.6(CTSC):c.486-17C>T
NM_001814.6(CTSC):c.486-20T>C
NM_001814.6(CTSC):c.486-9T>G
NM_001814.6(CTSC):c.48C>G (p.Leu16=)
NM_001814.6(CTSC):c.48C>T (p.Leu16=)
NM_001814.6(CTSC):c.495T>C (p.Asn165=)
NM_001814.6(CTSC):c.501C>T (p.Leu167=)
NM_001814.6(CTSC):c.507G>A (p.Lys169=)
NM_001814.6(CTSC):c.51C>T (p.Ser17=)
NM_001814.6(CTSC):c.522T>C (p.Phe174=)
NM_001814.6(CTSC):c.540C>T (p.Ala180=)
NM_001814.6(CTSC):c.546G>A (p.Gln182=)
NM_001814.6(CTSC):c.552T>G (p.Ser184=)
NM_001814.6(CTSC):c.591C>T (p.Thr197=)
NM_001814.6(CTSC):c.592C>T (p.Leu198=)
NM_001814.6(CTSC):c.609G>A (p.Arg203=)
NM_001814.6(CTSC):c.60C>T (p.Gly20=)
NM_001814.6(CTSC):c.639A>G (p.Pro213=)
NM_001814.6(CTSC):c.63C>G (p.Ala21=)
NM_001814.6(CTSC):c.63C>T (p.Ala21=)
NM_001814.6(CTSC):c.641+10C>T
NM_001814.6(CTSC):c.641+12C>T
NM_001814.6(CTSC):c.641+20A>C
NM_001814.6(CTSC):c.641+20A>G
NM_001814.6(CTSC):c.642-16T>C
NM_001814.6(CTSC):c.642-19A>G
NM_001814.6(CTSC):c.642-8C>G
NM_001814.6(CTSC):c.648A>G (p.Lys216=)
NM_001814.6(CTSC):c.666T>C (p.Ala222=)
NM_001814.6(CTSC):c.678A>G (p.Gln226=)
NM_001814.6(CTSC):c.696A>G (p.Pro232=)
NM_001814.6(CTSC):c.717T>C (p.Asn239=)
NM_001814.6(CTSC):c.729C>T (p.Ile243=) rs766063253
NM_001814.6(CTSC):c.750A>C (p.Arg250=)
NM_001814.6(CTSC):c.757+15C>T
NM_001814.6(CTSC):c.757+17A>G
NM_001814.6(CTSC):c.758-16T>C
NM_001814.6(CTSC):c.758-16dup
NM_001814.6(CTSC):c.758-17C>T
NM_001814.6(CTSC):c.758-17_758-16del
NM_001814.6(CTSC):c.758-19G>A
NM_001814.6(CTSC):c.758-20T>C
NM_001814.6(CTSC):c.758-20T>G
NM_001814.6(CTSC):c.758-5G>A
NM_001814.6(CTSC):c.758-5G>T
NM_001814.6(CTSC):c.758-6C>T
NM_001814.6(CTSC):c.762C>G (p.Ser254=)
NM_001814.6(CTSC):c.789T>C (p.Ser263=)
NM_001814.6(CTSC):c.807G>A (p.Ala269=)
NM_001814.6(CTSC):c.84C>G (p.Ala28=)
NM_001814.6(CTSC):c.873T>C (p.Cys291=)
NM_001814.6(CTSC):c.87C>T (p.Asn29=)
NM_001814.6(CTSC):c.882T>C (p.Tyr294=)
NM_001814.6(CTSC):c.889+13T>C
NM_001814.6(CTSC):c.889+18G>C
NM_001814.6(CTSC):c.889+19A>G
NM_001814.6(CTSC):c.889+9T>A
NM_001814.6(CTSC):c.889+9T>C
NM_001814.6(CTSC):c.890-13T>A
NM_001814.6(CTSC):c.890-18T>C
NM_001814.6(CTSC):c.890-20T>C
NM_001814.6(CTSC):c.890-5T>C
NM_001814.6(CTSC):c.890-6C>T
NM_001814.6(CTSC):c.891C>T (p.Gly297=)
NM_001814.6(CTSC):c.897A>G (p.Glu299=)
NM_001814.6(CTSC):c.900C>T (p.Gly300=)
NM_001814.6(CTSC):c.927G>A (p.Lys309=)
NM_001814.6(CTSC):c.936A>G (p.Gln312=)
NM_001814.6(CTSC):c.942T>C (p.Phe314=)
NM_001814.6(CTSC):c.948G>A (p.Leu316=)
NM_001814.6(CTSC):c.954A>G (p.Glu318=) rs886048739
NM_001814.6(CTSC):c.969C>G (p.Pro323=)
NM_001814.6(CTSC):c.969C>T (p.Pro323=)
NM_001814.6(CTSC):c.975A>G (p.Thr325=)
NM_001814.6(CTSC):c.978C>T (p.Gly326=)
NM_001814.6(CTSC):c.981T>A (p.Thr327=)
NM_001814.6(CTSC):c.981T>G (p.Thr327=)
NM_001814.6(CTSC):c.996A>G (p.Lys332=)
NM_002448.3(MSX1):c.354C>T (p.Phe118=)
NM_002448.3(MSX1):c.390G>T (p.Ala130=)
NM_002448.3(MSX1):c.426G>A (p.Arg142=)
NM_002448.3(MSX1):c.519T>C (p.Arg173=)
NM_002448.3(MSX1):c.526C>A (p.Arg176=) rs1737946881
NM_002448.3(MSX1):c.624G>C (p.Ser208=)
NM_002448.3(MSX1):c.629G>A (p.Ser210Asn)
NM_002448.3(MSX1):c.77G>C (p.Gly26Ala) rs567549350
NM_002448.3(MSX1):c.912G>A (p.Ter304=)
NM_002582.4(PARN):c.1005+10A>G
NM_002582.4(PARN):c.1005+11T>C
NM_002582.4(PARN):c.1005+17A>G rs953216938
NM_002582.4(PARN):c.1005+7T>A
NM_002582.4(PARN):c.1005+7T>C
NM_002582.4(PARN):c.1006-15C>A
NM_002582.4(PARN):c.1006-8G>A
NM_002582.4(PARN):c.1020C>T (p.Asn340=)
NM_002582.4(PARN):c.1026C>T (p.Ser342=)
NM_002582.4(PARN):c.1036T>C (p.Leu346=)
NM_002582.4(PARN):c.1081+13A>C
NM_002582.4(PARN):c.1081+14A>G
NM_002582.4(PARN):c.1081+18G>A
NM_002582.4(PARN):c.1081+19A>C rs2151753956
NM_002582.4(PARN):c.1082-20T>G
NM_002582.4(PARN):c.1082-6T>C
NM_002582.4(PARN):c.1086T>C (p.Ser362=)
NM_002582.4(PARN):c.1089C>G (p.Ala363=)
NM_002582.4(PARN):c.1089C>T (p.Ala363=) rs776536066
NM_002582.4(PARN):c.1110C>T (p.Asp370=)
NM_002582.4(PARN):c.1149C>G (p.Ala383=)
NM_002582.4(PARN):c.1161G>A (p.Gly387=)
NM_002582.4(PARN):c.1189C>T (p.Leu397=)
NM_002582.4(PARN):c.1192+10A>G
NM_002582.4(PARN):c.1192+12A>G
NM_002582.4(PARN):c.1192+14G>A
NM_002582.4(PARN):c.1192+19T>C
NM_002582.4(PARN):c.1192+9T>C
NM_002582.4(PARN):c.1193-12T>G
NM_002582.4(PARN):c.1193-14C>A
NM_002582.4(PARN):c.1193-14_1193-12del
NM_002582.4(PARN):c.1193-15T>G
NM_002582.4(PARN):c.1193-16T>C rs1969497587
NM_002582.4(PARN):c.1193-5A>G
NM_002582.4(PARN):c.1203C>T (p.Leu401=) rs2151749171
NM_002582.4(PARN):c.1206C>T (p.Ser402=)
NM_002582.4(PARN):c.1230C>G (p.Ala410=)
NM_002582.4(PARN):c.1239A>G (p.Lys413=)
NM_002582.4(PARN):c.1242C>T (p.Leu414=)
NM_002582.4(PARN):c.1257T>C (p.Phe419=)
NM_002582.4(PARN):c.1262+19C>G
NM_002582.4(PARN):c.1262+19C>T
NM_002582.4(PARN):c.1262+8A>G
NM_002582.4(PARN):c.1262+9T>G rs1969490324
NM_002582.4(PARN):c.1263-19T>C
NM_002582.4(PARN):c.1263-4G>A
NM_002582.4(PARN):c.1263-7C>T rs2151711061
NM_002582.4(PARN):c.1263-9T>G
NM_002582.4(PARN):c.1299A>C (p.Leu433=)
NM_002582.4(PARN):c.1318+10T>A
NM_002582.4(PARN):c.1319-12T>C
NM_002582.4(PARN):c.1319-15A>G
NM_002582.4(PARN):c.1319-17A>G
NM_002582.4(PARN):c.1319-4G>T rs760900593
NM_002582.4(PARN):c.1323G>A (p.Gln441=)
NM_002582.4(PARN):c.1335T>C (p.Asp445=) rs1463679404
NM_002582.4(PARN):c.1338T>C (p.His446=) rs2151708615
NM_002582.4(PARN):c.1365A>G (p.Glu455=) rs1052939058
NM_002582.4(PARN):c.1374C>G (p.Thr458=)
NM_002582.4(PARN):c.1374C>T (p.Thr458=)
NM_002582.4(PARN):c.1405+10A>C
NM_002582.4(PARN):c.1405+11A>C
NM_002582.4(PARN):c.1405+13T>G
NM_002582.4(PARN):c.1405+17G>C
NM_002582.4(PARN):c.1405+8G>C rs373527624
NM_002582.4(PARN):c.1405+9C>T
NM_002582.4(PARN):c.1406-11T>G
NM_002582.4(PARN):c.1406-18T>G
NM_002582.4(PARN):c.1410C>T (p.Asn470=)
NM_002582.4(PARN):c.1440A>G (p.Ser480=)
NM_002582.4(PARN):c.1473A>C (p.Val491=)
NM_002582.4(PARN):c.1473A>G (p.Val491=) rs1967336524
NM_002582.4(PARN):c.1476G>A (p.Lys492=)
NM_002582.4(PARN):c.1480+13G>A rs2151705615
NM_002582.4(PARN):c.1481-14dup rs748039977
NM_002582.4(PARN):c.1481-19T>G
NM_002582.4(PARN):c.1481-6T>G
NM_002582.4(PARN):c.1481-7C>T
NM_002582.4(PARN):c.1491C>T (p.Thr497=) rs750683123
NM_002582.4(PARN):c.1530T>G (p.Ala510=)
NM_002582.4(PARN):c.1545A>G (p.Arg515=) rs2151597304
NM_002582.4(PARN):c.1581T>G (p.Thr527=) rs2151597266
NM_002582.4(PARN):c.1659C>T (p.Tyr553=)
NM_002582.4(PARN):c.1668T>C (p.Asn556=)
NM_002582.4(PARN):c.1670+12C>T
NM_002582.4(PARN):c.1670+13A>G rs2151597090
NM_002582.4(PARN):c.1670+17G>A
NM_002582.4(PARN):c.1670+20A>G
NM_002582.4(PARN):c.1671-17C>T
NM_002582.4(PARN):c.1671-18C>T
NM_002582.4(PARN):c.1674T>C (p.Phe558=) rs2151557113
NM_002582.4(PARN):c.1692A>G (p.Val564=) rs1596433626
NM_002582.4(PARN):c.1719A>G (p.Gln573=)
NM_002582.4(PARN):c.1740C>T (p.Asp580=)
NM_002582.4(PARN):c.1764C>T (p.Asp588=)
NM_002582.4(PARN):c.177+11G>A
NM_002582.4(PARN):c.177+15T>C
NM_002582.4(PARN):c.177+9A>G
NM_002582.4(PARN):c.1773T>C (p.Leu591=)
NM_002582.4(PARN):c.1782C>G (p.Thr594=) rs187555579
NM_002582.4(PARN):c.1806A>T (p.Ser602=) rs2151556891
NM_002582.4(PARN):c.1818A>G (p.Lys606=) rs1331268805
NM_002582.4(PARN):c.1851G>A (p.Glu617=) rs1961223168
NM_002582.4(PARN):c.1864+11G>C
NM_002582.4(PARN):c.1864+14C>T
NM_002582.4(PARN):c.1864+19C>G
NM_002582.4(PARN):c.1864+20G>A
NM_002582.4(PARN):c.1864+20G>C
NM_002582.4(PARN):c.1864+9T>C rs2151556782
NM_002582.4(PARN):c.1865-6C>G
NM_002582.4(PARN):c.1865-9del
NM_002582.4(PARN):c.1875G>A (p.Ser625=) rs370090572
NM_002582.4(PARN):c.1875G>C (p.Ser625=)
NM_002582.4(PARN):c.19+11G>A
NM_002582.4(PARN):c.19+14_19+28del rs2151827636
NM_002582.4(PARN):c.19+20C>G
NM_002582.4(PARN):c.198A>C (p.Leu66=)
NM_002582.4(PARN):c.198A>G (p.Leu66=)
NM_002582.4(PARN):c.20-10T>A rs1972909220
NM_002582.4(PARN):c.20-14C>T rs996455976
NM_002582.4(PARN):c.20-16T>G
NM_002582.4(PARN):c.20-19C>T
NM_002582.4(PARN):c.20-20T>A
NM_002582.4(PARN):c.20-20T>C rs2151826943
NM_002582.4(PARN):c.20-5C>T
NM_002582.4(PARN):c.20-8C>T rs747888634
NM_002582.4(PARN):c.204G>A (p.Gln68=)
NM_002582.4(PARN):c.210C>A (p.Gly70=) rs748166497
NM_002582.4(PARN):c.243A>G (p.Ser81=)
NM_002582.4(PARN):c.245+15C>G
NM_002582.4(PARN):c.245+20G>T rs377105548
NM_002582.4(PARN):c.245+8G>T
NM_002582.4(PARN):c.246-4C>A
NM_002582.4(PARN):c.246-4C>G
NM_002582.4(PARN):c.246-5C>T
NM_002582.4(PARN):c.246-6T>C
NM_002582.4(PARN):c.246-8T>C
NM_002582.4(PARN):c.249T>C (p.Tyr83=)
NM_002582.4(PARN):c.255G>A (p.Thr85=)
NM_002582.4(PARN):c.288C>T (p.Pro96=) rs2151823197
NM_002582.4(PARN):c.294T>C (p.Asn98=)
NM_002582.4(PARN):c.306A>G (p.Pro102=) rs774805226
NM_002582.4(PARN):c.327+15T>C
NM_002582.4(PARN):c.328-10T>C rs2151808861
NM_002582.4(PARN):c.351A>C (p.Ala117=)
NM_002582.4(PARN):c.388+11G>A
NM_002582.4(PARN):c.388+13G>A rs781377090
NM_002582.4(PARN):c.388+20A>G
NM_002582.4(PARN):c.388+8T>A
NM_002582.4(PARN):c.389-13A>C
NM_002582.4(PARN):c.389-15T>A
NM_002582.4(PARN):c.389-19T>C rs768266740
NM_002582.4(PARN):c.389-9C>T rs1467886184
NM_002582.4(PARN):c.396A>G (p.Pro132=) rs1971479823
NM_002582.4(PARN):c.405T>C (p.Asn135=)
NM_002582.4(PARN):c.444A>G (p.Glu148=)
NM_002582.4(PARN):c.459G>C (p.Ala153=) rs960463679
NM_002582.4(PARN):c.465T>C (p.Gly155=) rs1555508032
NM_002582.4(PARN):c.468A>G (p.Ala156=)
NM_002582.4(PARN):c.471A>C (p.Gly157=)
NM_002582.4(PARN):c.480C>T (p.Ser160=) rs2151797611
NM_002582.4(PARN):c.495C>T (p.Asn165=)
NM_002582.4(PARN):c.504A>G (p.Lys168=)
NM_002582.4(PARN):c.546C>T (p.Asp182=)
NM_002582.4(PARN):c.54C>T (p.Ala18=) rs2151826842
NM_002582.4(PARN):c.554+19A>G rs1971468748
NM_002582.4(PARN):c.554+20C>T
NM_002582.4(PARN):c.555-14T>C rs2151795461
NM_002582.4(PARN):c.555-17C>G
NM_002582.4(PARN):c.555-6C>T
NM_002582.4(PARN):c.606A>G (p.Leu202=)
NM_002582.4(PARN):c.612A>G (p.Pro204=)
NM_002582.4(PARN):c.620+15A>G
NM_002582.4(PARN):c.620+16C>T
NM_002582.4(PARN):c.620+9T>C
NM_002582.4(PARN):c.621-11T>C
NM_002582.4(PARN):c.621-22_621-18del rs2151794051
NM_002582.4(PARN):c.621-4A>G rs2151794031
NM_002582.4(PARN):c.621-9T>C
NM_002582.4(PARN):c.639T>C (p.Ile213=)
NM_002582.4(PARN):c.659+12T>C rs2151793951
NM_002582.4(PARN):c.659+18A>T
NM_002582.4(PARN):c.660-10T>C
NM_002582.4(PARN):c.660-11C>G
NM_002582.4(PARN):c.660-3dup
NM_002582.4(PARN):c.660-9T>G
NM_002582.4(PARN):c.666G>A (p.Pro222=)
NM_002582.4(PARN):c.666G>C (p.Pro222=) rs186335640
NM_002582.4(PARN):c.666G>T (p.Pro222=) rs186335640
NM_002582.4(PARN):c.669A>G (p.Lys223=)
NM_002582.4(PARN):c.684G>A (p.Glu228=)
NM_002582.4(PARN):c.702+10A>G
NM_002582.4(PARN):c.702+13A>G
NM_002582.4(PARN):c.702+17T>C
NM_002582.4(PARN):c.702+18C>G
NM_002582.4(PARN):c.702+20A>G
NM_002582.4(PARN):c.703-11_703-10del rs1185087862
NM_002582.4(PARN):c.703-15C>T
NM_002582.4(PARN):c.703-18C>G
NM_002582.4(PARN):c.703-7C>G
NM_002582.4(PARN):c.714T>C (p.Tyr238=) rs1281930960
NM_002582.4(PARN):c.723C>T (p.Ile241=)
NM_002582.4(PARN):c.726C>T (p.Ser242=)
NM_002582.4(PARN):c.72C>T (p.Phe24=)
NM_002582.4(PARN):c.75C>T (p.Phe25=)
NM_002582.4(PARN):c.762G>A (p.Gln254=)
NM_002582.4(PARN):c.783+11T>C
NM_002582.4(PARN):c.783+15T>C rs2151787317
NM_002582.4(PARN):c.783+9G>T
NM_002582.4(PARN):c.784-14del
NM_002582.4(PARN):c.784-16A>T
NM_002582.4(PARN):c.784-19T>C rs867919377
NM_002582.4(PARN):c.804G>C (p.Val268=) rs2151779883
NM_002582.4(PARN):c.840+16T>C
NM_002582.4(PARN):c.840+8A>C
NM_002582.4(PARN):c.841-17A>C
NM_002582.4(PARN):c.841-7T>G
NM_002582.4(PARN):c.841-8T>G
NM_002582.4(PARN):c.909T>C (p.Pro303=)
NM_002582.4(PARN):c.912G>A (p.Leu304=) rs1970307733
NM_002582.4(PARN):c.912G>C (p.Leu304=)
NM_002582.4(PARN):c.918+12G>T rs767639160
NM_002582.4(PARN):c.918+15G>A
NM_002582.4(PARN):c.918+9C>T
NM_002582.4(PARN):c.919-20G>A
NM_002582.4(PARN):c.919-6C>G
NM_002582.4(PARN):c.919-9G>C
NM_002582.4(PARN):c.927T>C (p.Ser309=) rs2151757158
NM_002582.4(PARN):c.930G>A (p.Glu310=) rs1596758654
NM_002582.4(PARN):c.962+12T>A
NM_002582.4(PARN):c.962+16G>C rs1424080800
NM_002582.4(PARN):c.962+9T>C
NM_002582.4(PARN):c.963-18G>A
NM_002582.4(PARN):c.963-19_963-3del rs752630850
NM_002582.4(PARN):c.966C>T (p.Leu322=) rs763666862
NM_002582.4(PARN):c.97+16A>T
NM_002582.4(PARN):c.97+7del
NM_002582.4(PARN):c.97+9C>G rs746984542
NM_002582.4(PARN):c.97+9C>T rs746984542
NM_002582.4(PARN):c.97+9_97+12del rs1277830010
NM_002582.4(PARN):c.98-12C>G rs2151824794
NM_002582.4(PARN):c.98-14T>C
NM_002582.4(PARN):c.98-5T>A
NM_002582.4(PARN):c.993A>G (p.Thr331=) rs2151754690
NM_002582.4(PARN):c.9A>T (p.Ile3=) rs1359611593
NM_004415.4(DSP):c.1002C>T (p.Asp334=)
NM_004415.4(DSP):c.1008T>G (p.Leu336=)
NM_004415.4(DSP):c.1010T>C (p.Val337Ala)
NM_004415.4(DSP):c.102C>T (p.Gly34=) rs763785063
NM_004415.4(DSP):c.1045-4T>G
NM_004415.4(DSP):c.1047C>T (p.Ala349=) rs1758892420
NM_004415.4(DSP):c.1049A>G (p.Tyr350Cys) rs1187569405
NM_004415.4(DSP):c.1067C>T (p.Thr356Met) rs780626687
NM_004415.4(DSP):c.1089G>C (p.Gln363His)
NM_004415.4(DSP):c.1092C>T (p.Ile364=)
NM_004415.4(DSP):c.1113T>C (p.His371=)
NM_004415.4(DSP):c.111C>A (p.Thr37=) rs727502995
NM_004415.4(DSP):c.1125T>C (p.Asn375=)
NM_004415.4(DSP):c.1140+14G>C
NM_004415.4(DSP):c.1140+15T>G
NM_004415.4(DSP):c.1140+20A>G rs2113672635
NM_004415.4(DSP):c.1141-12C>T
NM_004415.4(DSP):c.1141-15T>C
NM_004415.4(DSP):c.1141-8C>A rs1758907949
NM_004415.4(DSP):c.1141-9C>T
NM_004415.4(DSP):c.1161T>A (p.Ser387=) rs1758909456
NM_004415.4(DSP):c.1179G>A (p.Lys393=)
NM_004415.4(DSP):c.117G>A (p.Arg39=)
NM_004415.4(DSP):c.1180G>A (p.Gly394Arg) rs769054351
NM_004415.4(DSP):c.1182G>T (p.Gly394=)
NM_004415.4(DSP):c.1222A>G (p.Asn408Asp) rs142129767
NM_004415.4(DSP):c.1232T>C (p.Leu411Pro)
NM_004415.4(DSP):c.1240C>T (p.Leu414=)
NM_004415.4(DSP):c.1248A>G (p.Glu416=) rs1554106751
NM_004415.4(DSP):c.1267-10A>C rs2113674080
NM_004415.4(DSP):c.1267-13T>C
NM_004415.4(DSP):c.1267-20G>A
NM_004415.4(DSP):c.1288G>A (p.Glu430Lys)
NM_004415.4(DSP):c.12C>T (p.Asn4=) rs368802003
NM_004415.4(DSP):c.1303G>A (p.Val435Met)
NM_004415.4(DSP):c.1329G>A (p.Lys443=) rs767785995
NM_004415.4(DSP):c.132G>A (p.Arg44=) rs1204569556
NM_004415.4(DSP):c.1356C>T (p.Asn452=) rs1187261274
NM_004415.4(DSP):c.135C>T (p.Arg45=)
NM_004415.4(DSP):c.1362C>T (p.Asp454=) rs778044416
NM_004415.4(DSP):c.1366A>C (p.Arg456=)
NM_004415.4(DSP):c.1378C>T (p.Pro460Ser)
NM_004415.4(DSP):c.1380C>T (p.Pro460=) rs1451086273
NM_004415.4(DSP):c.138C>T (p.Gly46=)
NM_004415.4(DSP):c.1395T>C (p.Ala465=) rs778926592
NM_004415.4(DSP):c.1395T>G (p.Ala465=)
NM_004415.4(DSP):c.1398C>G (p.Leu466=) rs1465847887
NM_004415.4(DSP):c.1419+17A>G
NM_004415.4(DSP):c.1420-13G>T
NM_004415.4(DSP):c.1420-9G>C rs1758956235
NM_004415.4(DSP):c.1425C>T (p.Ile475=) rs1329910838
NM_004415.4(DSP):c.1426G>A (p.Val476Met) rs367987327
NM_004415.4(DSP):c.1428G>A (p.Val476=)
NM_004415.4(DSP):c.1431T>C (p.His477=) rs1554106904
NM_004415.4(DSP):c.1449C>A (p.Ile483=) rs1758959651
NM_004415.4(DSP):c.1449C>T (p.Ile483=)
NM_004415.4(DSP):c.144C>T (p.Ile48=)
NM_004415.4(DSP):c.1458C>T (p.Asp486=)
NM_004415.4(DSP):c.1464C>T (p.Asn488=) rs768526275
NM_004415.4(DSP):c.1467G>A (p.Glu489=)
NM_004415.4(DSP):c.146C>T (p.Thr49Ile) rs151153655
NM_004415.4(DSP):c.1475A>G (p.Lys492Arg)
NM_004415.4(DSP):c.1476G>A (p.Lys492=) rs2113675467
NM_004415.4(DSP):c.1485G>T (p.Val495=) rs2113675497
NM_004415.4(DSP):c.1497A>G (p.Gly499=) rs1581803484
NM_004415.4(DSP):c.1500C>T (p.Gly500=) rs762086998
NM_004415.4(DSP):c.1506C>T (p.Asp502=)
NM_004415.4(DSP):c.1524G>C (p.Val508=) rs2113675631
NM_004415.4(DSP):c.1527G>T (p.Gly509=) rs397516917
NM_004415.4(DSP):c.1542T>A (p.Pro514=) rs1554106920
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu) rs730880079
NM_004415.4(DSP):c.1558G>A (p.Val520Met)
NM_004415.4(DSP):c.1563C>A (p.Asp521Glu) rs113378925
NM_004415.4(DSP):c.1574+12A>C rs777035331
NM_004415.4(DSP):c.1574+12A>G
NM_004415.4(DSP):c.1574+16T>C
NM_004415.4(DSP):c.1574+20A>G rs1190197652
NM_004415.4(DSP):c.1575-17C>T
NM_004415.4(DSP):c.1575-4T>G rs745353405
NM_004415.4(DSP):c.1575-9G>T
NM_004415.4(DSP):c.157T>C (p.Ser53Pro) rs397516918
NM_004415.4(DSP):c.1587C>T (p.Tyr529=) rs2113677271
NM_004415.4(DSP):c.1593A>G (p.Glu531=)
NM_004415.4(DSP):c.1596C>T (p.Ala532=)
NM_004415.4(DSP):c.159G>A (p.Ser53=)
NM_004415.4(DSP):c.162C>T (p.Asp54=) rs1057113375
NM_004415.4(DSP):c.1639C>T (p.Leu547=)
NM_004415.4(DSP):c.1644G>A (p.Val548=)
NM_004415.4(DSP):c.1659C>T (p.Cys553=)
NM_004415.4(DSP):c.1665T>C (p.Ile555=)
NM_004415.4(DSP):c.1680C>T (p.Ile560=) rs397516920
NM_004415.4(DSP):c.170+10T>C
NM_004415.4(DSP):c.170+11G>T rs727505007
NM_004415.4(DSP):c.170+12C>A
NM_004415.4(DSP):c.170+13C>T
NM_004415.4(DSP):c.170+14C>G
NM_004415.4(DSP):c.170+14C>T
NM_004415.4(DSP):c.170+15G>A
NM_004415.4(DSP):c.170+18G>A
NM_004415.4(DSP):c.170+19A>G
NM_004415.4(DSP):c.170+7A>G
NM_004415.4(DSP):c.1701+16C>T
NM_004415.4(DSP):c.1701+18C>G rs2113677592
NM_004415.4(DSP):c.1701+7C>A
NM_004415.4(DSP):c.1702-12G>A rs1759045119
NM_004415.4(DSP):c.1702-16G>A
NM_004415.4(DSP):c.1702-7C>G
NM_004415.4(DSP):c.1702-7_1702-3del
NM_004415.4(DSP):c.171-5C>G
NM_004415.4(DSP):c.171-5C>T
NM_004415.4(DSP):c.1710A>C (p.Thr570=) rs1429455523
NM_004415.4(DSP):c.1736C>T (p.Thr579Met)
NM_004415.4(DSP):c.1737G>T (p.Thr579=) rs150734502
NM_004415.4(DSP):c.1743C>A (p.Ala581=) rs139095230
NM_004415.4(DSP):c.1749T>G (p.Leu583=) rs1060503981
NM_004415.4(DSP):c.1788C>G (p.Gly596=) rs2113679013
NM_004415.4(DSP):c.178G>A (p.Gly60Ser) rs982933033
NM_004415.4(DSP):c.1794G>A (p.Glu598=)
NM_004415.4(DSP):c.1816C>A (p.Arg606=) rs372467697
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln) rs576661499
NM_004415.4(DSP):c.1851G>A (p.Lys617=) rs1759052144
NM_004415.4(DSP):c.1869C>T (p.Val623=)
NM_004415.4(DSP):c.1903+12A>T
NM_004415.4(DSP):c.1903+15T>C
NM_004415.4(DSP):c.1903+17T>C
NM_004415.4(DSP):c.1904-19C>A
NM_004415.4(DSP):c.1904-20G>T
NM_004415.4(DSP):c.1904-4A>G
NM_004415.4(DSP):c.1904-9T>C
NM_004415.4(DSP):c.1908C>T (p.Thr636=)
NM_004415.4(DSP):c.1914T>C (p.Thr638=)
NM_004415.4(DSP):c.1919T>C (p.Ile640Thr) rs1407036854
NM_004415.4(DSP):c.1923T>A (p.Thr641=)
NM_004415.4(DSP):c.192G>A (p.Arg64=) rs908789038
NM_004415.4(DSP):c.1938C>T (p.Cys646=) rs1759064440
NM_004415.4(DSP):c.1965T>C (p.Ile655=)
NM_004415.4(DSP):c.1971C>G (p.Thr657=) rs2113679874
NM_004415.4(DSP):c.2016G>A (p.Leu672=) rs1282905209
NM_004415.4(DSP):c.2033A>G (p.Gln678Arg)
NM_004415.4(DSP):c.2049G>A (p.Glu683=) rs2113680102
NM_004415.4(DSP):c.204G>A (p.Gln68=)
NM_004415.4(DSP):c.2061T>A (p.Thr687=)
NM_004415.4(DSP):c.2061T>C (p.Thr687=)
NM_004415.4(DSP):c.2074C>G (p.Pro692Ala)
NM_004415.4(DSP):c.208A>G (p.Thr70Ala) rs1442496444
NM_004415.4(DSP):c.2091A>T (p.Gly697=) rs2076304
NM_004415.4(DSP):c.2097T>C (p.Ser699=) rs2113680246
NM_004415.4(DSP):c.2103C>T (p.His701=)
NM_004415.4(DSP):c.2109A>G (p.Thr703=) rs1351265258
NM_004415.4(DSP):c.2130+11G>A
NM_004415.4(DSP):c.2130+12C>T
NM_004415.4(DSP):c.2130+14A>G
NM_004415.4(DSP):c.2130+7A>G rs1759074833
NM_004415.4(DSP):c.2131-20C>T
NM_004415.4(DSP):c.2156T>C (p.Ile719Thr)
NM_004415.4(DSP):c.2157T>C (p.Ile719=)
NM_004415.4(DSP):c.2159C>G (p.Ala720Gly) rs1261146655
NM_004415.4(DSP):c.2173C>A (p.Gln725Lys)
NM_004415.4(DSP):c.2177T>C (p.Leu726Pro)
NM_004415.4(DSP):c.2178T>C (p.Leu726=) rs2113683095
NM_004415.4(DSP):c.2184T>C (p.Asp728=) rs750383681
NM_004415.4(DSP):c.2190T>C (p.Leu730=)
NM_004415.4(DSP):c.2193C>A (p.Ala731=)
NM_004415.4(DSP):c.219G>A (p.Glu73=)
NM_004415.4(DSP):c.2208T>C (p.Ser736=) rs2113683195
NM_004415.4(DSP):c.2214G>A (p.Lys738=)
NM_004415.4(DSP):c.2220C>T (p.Cys740=)
NM_004415.4(DSP):c.2247A>C (p.Leu749=) rs28763963
NM_004415.4(DSP):c.2250T>G (p.Phe750Leu)
NM_004415.4(DSP):c.2259G>A (p.Leu753=) rs1759156637
NM_004415.4(DSP):c.225G>A (p.Leu75=) rs2113653867
NM_004415.4(DSP):c.2268C>T (p.Ile756=)
NM_004415.4(DSP):c.2278A>T (p.Thr760Ser)
NM_004415.4(DSP):c.2280A>G (p.Thr760=) rs1375561193
NM_004415.4(DSP):c.2297+11C>T
NM_004415.4(DSP):c.2297+14A>C rs1057520278
NM_004415.4(DSP):c.2297+15C>T
NM_004415.4(DSP):c.2298-10C>T rs1057522919
NM_004415.4(DSP):c.2298-15T>C rs2113683947
NM_004415.4(DSP):c.2298-5T>C rs969832224
NM_004415.4(DSP):c.2298-8C>T rs2113683961
NM_004415.4(DSP):c.2304C>T (p.Cys768=) rs1441887959
NM_004415.4(DSP):c.2313G>A (p.Arg771=)
NM_004415.4(DSP):c.231C>T (p.Asn77=)
NM_004415.4(DSP):c.2322C>T (p.Leu774=)
NM_004415.4(DSP):c.2327C>G (p.Ala776Gly) rs201700546
NM_004415.4(DSP):c.2328T>G (p.Ala776=) rs2113684036
NM_004415.4(DSP):c.2340A>G (p.Thr780=)
NM_004415.4(DSP):c.2369G>A (p.Arg790Lys)
NM_004415.4(DSP):c.2379G>A (p.Glu793=)
NM_004415.4(DSP):c.2385A>G (p.Glu795=)
NM_004415.4(DSP):c.2386A>G (p.Thr796Ala) rs1554107526
NM_004415.4(DSP):c.2388T>A (p.Thr796=)
NM_004415.4(DSP):c.2388T>C (p.Thr796=) rs2113684215
NM_004415.4(DSP):c.2403G>A (p.Leu801=) rs1759182985
NM_004415.4(DSP):c.2412G>A (p.Val804=) rs773330932
NM_004415.4(DSP):c.2418T>C (p.Ala806=) rs1759183681
NM_004415.4(DSP):c.2421C>T (p.Tyr807=) rs2113684259
NM_004415.4(DSP):c.2424C>G (p.Arg808=)
NM_004415.4(DSP):c.2436+10A>G rs1759184963
NM_004415.4(DSP):c.2436+11A>C rs1759185037
NM_004415.4(DSP):c.2436+13C>T
NM_004415.4(DSP):c.2436+16A>C
NM_004415.4(DSP):c.2436+16A>T rs199555263
NM_004415.4(DSP):c.2437-10C>T rs749486113
NM_004415.4(DSP):c.2437-10del rs746870396
NM_004415.4(DSP):c.2437-12_2437-11del rs727502998
NM_004415.4(DSP):c.2437-6T>C rs2113684940
NM_004415.4(DSP):c.2437-7C>T rs1424310426
NM_004415.4(DSP):c.2437-9A>G
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.2442A>C (p.Ile814=)
NM_004415.4(DSP):c.2451C>T (p.Asp817=)
NM_004415.4(DSP):c.2454G>A (p.Leu818=)
NM_004415.4(DSP):c.2466G>A (p.Lys822=) rs1379441574
NM_004415.4(DSP):c.2481T>C (p.Thr827=)
NM_004415.4(DSP):c.2487G>A (p.Lys829=)
NM_004415.4(DSP):c.2489C>T (p.Thr830Ile)
NM_004415.4(DSP):c.2490A>C (p.Thr830=) rs2113685097
NM_004415.4(DSP):c.250C>A (p.Arg84=)
NM_004415.4(DSP):c.2525C>G (p.Thr842Ser)
NM_004415.4(DSP):c.2538T>C (p.Tyr846=) rs765837163
NM_004415.4(DSP):c.2543T>C (p.Leu848Pro)
NM_004415.4(DSP):c.2553G>A (p.Leu851=)
NM_004415.4(DSP):c.2553G>T (p.Leu851=) rs2113685231
NM_004415.4(DSP):c.2571T>A (p.Gly857=) rs1216646957
NM_004415.4(DSP):c.2589G>A (p.Leu863=)
NM_004415.4(DSP):c.2597G>T (p.Arg866Leu)
NM_004415.4(DSP):c.2622C>A (p.Ile874=) rs751067479
NM_004415.4(DSP):c.2630+10C>T rs757717367
NM_004415.4(DSP):c.2630+15_2630+17del
NM_004415.4(DSP):c.2630+17C>A
NM_004415.4(DSP):c.2630+18C>A
NM_004415.4(DSP):c.2630+7C>T
NM_004415.4(DSP):c.2631-10T>A rs369840498
NM_004415.4(DSP):c.2631-10T>C
NM_004415.4(DSP):c.2631-12A>G
NM_004415.4(DSP):c.2631-14C>G
NM_004415.4(DSP):c.2631-14C>T rs1050258732
NM_004415.4(DSP):c.2631-14del
NM_004415.4(DSP):c.2631-15T>C
NM_004415.4(DSP):c.2631-16A>G rs1362454930
NM_004415.4(DSP):c.2631-18G>T
NM_004415.4(DSP):c.2631-19T>G
NM_004415.4(DSP):c.2631-4C>G rs1581811524
NM_004415.4(DSP):c.2631-6C>G rs1759237205
NM_004415.4(DSP):c.2631-6C>T
NM_004415.4(DSP):c.2631-8C>A
NM_004415.4(DSP):c.2631-8C>T
NM_004415.4(DSP):c.2631-9T>C
NM_004415.4(DSP):c.2643G>A (p.Leu881=) rs1057520546
NM_004415.4(DSP):c.2655C>A (p.Ile885=)
NM_004415.4(DSP):c.2662T>C (p.Leu888=) rs994415126
NM_004415.4(DSP):c.2685T>C (p.Tyr895=) rs2113686561
NM_004415.4(DSP):c.2700G>A (p.Lys900=) rs2113686599
NM_004415.4(DSP):c.2712T>C (p.Asp904=)
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu) rs142494121
NM_004415.4(DSP):c.273+10_273+11insGTGCAG
NM_004415.4(DSP):c.273+12C>G
NM_004415.4(DSP):c.273+13T>C
NM_004415.4(DSP):c.273+14G>A rs1460404348
NM_004415.4(DSP):c.273+20A>G
NM_004415.4(DSP):c.273+7_273+8insC
NM_004415.4(DSP):c.273+8T>A
NM_004415.4(DSP):c.274-10T>C
NM_004415.4(DSP):c.274-13T>C
NM_004415.4(DSP):c.274-18G>C
NM_004415.4(DSP):c.274-19T>C
NM_004415.4(DSP):c.274-20A>C
NM_004415.4(DSP):c.274-7C>G
NM_004415.4(DSP):c.274-9T>A rs986399667
NM_004415.4(DSP):c.2769C>T (p.Val923=) rs767744438
NM_004415.4(DSP):c.276A>G (p.Glu92=)
NM_004415.4(DSP):c.2775G>T (p.Arg925=) rs2113686798
NM_004415.4(DSP):c.277T>C (p.Leu93=) rs1561680562
NM_004415.4(DSP):c.2793+11A>G
NM_004415.4(DSP):c.2793+14T>G
NM_004415.4(DSP):c.2793+18G>A rs1405091650
NM_004415.4(DSP):c.2793+7G>A
NM_004415.4(DSP):c.2793+8C>T
NM_004415.4(DSP):c.2794-12C>T rs1759258114
NM_004415.4(DSP):c.2794-13A>T
NM_004415.4(DSP):c.2794-17T>C
NM_004415.4(DSP):c.2794-17T>G
NM_004415.4(DSP):c.2794-20A>G
NM_004415.4(DSP):c.2794-7T>C rs397516926
NM_004415.4(DSP):c.2794-7T>G rs397516926
NM_004415.4(DSP):c.2799G>A (p.Leu933=)
NM_004415.4(DSP):c.2809A>G (p.Ile937Val) rs1287292518
NM_004415.4(DSP):c.2829A>C (p.Lys943Asn)
NM_004415.4(DSP):c.2848A>G (p.Ile950Val)
NM_004415.4(DSP):c.2860T>C (p.Cys954Arg)
NM_004415.4(DSP):c.2863G>A (p.Ala955Thr) rs190421916
NM_004415.4(DSP):c.2865C>A (p.Ala955=) rs2113687754
NM_004415.4(DSP):c.2877+14A>G
NM_004415.4(DSP):c.2877+20A>C
NM_004415.4(DSP):c.2878-12A>G rs765050348
NM_004415.4(DSP):c.2878-13C>T
NM_004415.4(DSP):c.2878-14T>G
NM_004415.4(DSP):c.2878-17dup rs1440609253
NM_004415.4(DSP):c.2878-19A>G
NM_004415.4(DSP):c.2878-19A>T
NM_004415.4(DSP):c.2878-8T>C
NM_004415.4(DSP):c.2878-9A>G rs2113688819
NM_004415.4(DSP):c.2891A>T (p.Gln964Leu)
NM_004415.4(DSP):c.2892G>A (p.Gln964=) rs746675465
NM_004415.4(DSP):c.2898C>T (p.Ala966=) rs754665672
NM_004415.4(DSP):c.2904C>T (p.Tyr968=) rs1241595798
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_004415.4(DSP):c.2949C>T (p.Thr983=)
NM_004415.4(DSP):c.2951T>C (p.Met984Thr)
NM_004415.4(DSP):c.2985+7A>G
NM_004415.4(DSP):c.2985+8T>C rs776809248
NM_004415.4(DSP):c.2985+9G>A rs1759293135
NM_004415.4(DSP):c.2986-13_2986-10del
NM_004415.4(DSP):c.2986-15T>C
NM_004415.4(DSP):c.2986-18T>C
NM_004415.4(DSP):c.3000T>C (p.His1000=)
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro) rs371234425
NM_004415.4(DSP):c.3006G>A (p.Arg1002=) rs1759317112
NM_004415.4(DSP):c.3018A>G (p.Leu1006=) rs375412541
NM_004415.4(DSP):c.3038A>G (p.Tyr1013Cys)
NM_004415.4(DSP):c.3045G>A (p.Arg1015=)
NM_004415.4(DSP):c.3048C>T (p.Phe1016=) rs1299556752
NM_004415.4(DSP):c.307C>T (p.Arg103Trp) rs375028675
NM_004415.4(DSP):c.3084+10A>G rs1581814315
NM_004415.4(DSP):c.3084+11C>T
NM_004415.4(DSP):c.3084+12T>G
NM_004415.4(DSP):c.3084+19T>C
NM_004415.4(DSP):c.3084+20C>T
NM_004415.4(DSP):c.3085-10C>G
NM_004415.4(DSP):c.3085-13T>C rs2113690976
NM_004415.4(DSP):c.3085-20T>A
NM_004415.4(DSP):c.3085-20T>G
NM_004415.4(DSP):c.3085-4A>G
NM_004415.4(DSP):c.309G>A (p.Arg103=)
NM_004415.4(DSP):c.30G>A (p.Arg10=)
NM_004415.4(DSP):c.30G>T (p.Arg10=) rs1581777241
NM_004415.4(DSP):c.3120G>A (p.Glu1040=)
NM_004415.4(DSP):c.3127C>T (p.Leu1043=) rs1581814977
NM_004415.4(DSP):c.3131C>T (p.Ala1044Val)
NM_004415.4(DSP):c.3132C>A (p.Ala1044=)
NM_004415.4(DSP):c.3137A>T (p.Asp1046Val) rs752077454
NM_004415.4(DSP):c.3138T>C (p.Asp1046=) rs879254347
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)
NM_004415.4(DSP):c.3186G>T (p.Leu1062=)
NM_004415.4(DSP):c.3231G>C (p.Ala1077=)
NM_004415.4(DSP):c.3244C>T (p.Leu1082=)
NM_004415.4(DSP):c.3261G>A (p.Glu1087=) rs1045685133
NM_004415.4(DSP):c.3262C>T (p.Leu1088=)
NM_004415.4(DSP):c.3264G>T (p.Leu1088=)
NM_004415.4(DSP):c.3276G>A (p.Ser1092=) rs202057409
NM_004415.4(DSP):c.3282G>C (p.Lys1094Asn) rs2491080
NM_004415.4(DSP):c.3297G>A (p.Lys1099=)
NM_004415.4(DSP):c.3306C>T (p.Gly1102=)
NM_004415.4(DSP):c.3315A>G (p.Lys1105=) rs1581815327
NM_004415.4(DSP):c.3318A>G (p.Glu1106=) rs2113691480
NM_004415.4(DSP):c.3321C>G (p.Leu1107=)
NM_004415.4(DSP):c.3321C>T (p.Leu1107=)
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys) rs367763339
NM_004415.4(DSP):c.3339A>C (p.Arg1113=)
NM_004415.4(DSP):c.3342G>T (p.Leu1114=)
NM_004415.4(DSP):c.3351G>A (p.Glu1117=) rs1759350245
NM_004415.4(DSP):c.3366G>A (p.Lys1122=) rs1561697279
NM_004415.4(DSP):c.3393A>G (p.Arg1131=)
NM_004415.4(DSP):c.3402A>G (p.Gln1134=)
NM_004415.4(DSP):c.3423A>G (p.Gln1141=)
NM_004415.4(DSP):c.3424C>T (p.Leu1142=) rs779251147
NM_004415.4(DSP):c.3456C>A (p.Asn1152Lys)
NM_004415.4(DSP):c.3462T>A (p.Gly1154=) rs1554108086
NM_004415.4(DSP):c.3468G>A (p.Gln1156=) rs947354271
NM_004415.4(DSP):c.3480T>C (p.Ser1160=)
NM_004415.4(DSP):c.348C>T (p.Asp116=)
NM_004415.4(DSP):c.3501G>A (p.Lys1167=)
NM_004415.4(DSP):c.3503A>G (p.Glu1168Gly)
NM_004415.4(DSP):c.3504G>A (p.Glu1168=)
NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr) rs762449180
NM_004415.4(DSP):c.3522G>A (p.Leu1174=)
NM_004415.4(DSP):c.3543A>G (p.Glu1181=)
NM_004415.4(DSP):c.3546C>A (p.Gly1182=) rs1355395147
NM_004415.4(DSP):c.3564T>C (p.Tyr1188=) rs2113692122
NM_004415.4(DSP):c.3573G>C (p.Glu1191Asp)
NM_004415.4(DSP):c.3582G>A (p.Lys1194=)
NM_004415.4(DSP):c.3591C>T (p.Asn1197=)
NM_004415.4(DSP):c.3606G>A (p.Glu1202=)
NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln) rs1283110287
NM_004415.4(DSP):c.3639G>A (p.Glu1213=)
NM_004415.4(DSP):c.3640A>G (p.Ile1214Val)
NM_004415.4(DSP):c.3654G>C (p.Lys1218Asn)
NM_004415.4(DSP):c.3657C>A (p.Thr1219=)
NM_004415.4(DSP):c.3663C>T (p.Ile1221=) rs2113692351
NM_004415.4(DSP):c.3676A>G (p.Met1226Val)
NM_004415.4(DSP):c.3687G>A (p.Glu1229=)
NM_004415.4(DSP):c.3696C>G (p.Ser1232=) rs141120358
NM_004415.4(DSP):c.3696C>T (p.Ser1232=)
NM_004415.4(DSP):c.3706A>C (p.Arg1236=)
NM_004415.4(DSP):c.370T>C (p.Leu124=) rs2113657689
NM_004415.4(DSP):c.3714G>A (p.Gln1238=) rs2113692461
NM_004415.4(DSP):c.3718G>C (p.Asp1240His) rs1216670261
NM_004415.4(DSP):c.372G>A (p.Leu124=) rs2113657693
NM_004415.4(DSP):c.3739C>A (p.Arg1247=)
NM_004415.4(DSP):c.3743A>C (p.Asp1248Ala) rs1276847644
NM_004415.4(DSP):c.3750G>A (p.Lys1250=) rs2113692538
NM_004415.4(DSP):c.3762C>G (p.Val1254=) rs2113692582
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.3764G>C (p.Arg1255Thr)
NM_004415.4(DSP):c.3771T>C (p.Asn1257=)
NM_004415.4(DSP):c.3780C>T (p.Ile1260=) rs2113692617
NM_004415.4(DSP):c.378A>G (p.Arg126=) rs1758561693
NM_004415.4(DSP):c.3792T>C (p.Thr1264=) rs766726853
NM_004415.4(DSP):c.3805C>A (p.Arg1269=) rs767643821
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.381G>A (p.Glu127=)
NM_004415.4(DSP):c.3828G>A (p.Gln1276=)
NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser) rs763915365
NM_004415.4(DSP):c.3846T>C (p.Ser1282=) rs2113692799
NM_004415.4(DSP):c.3849G>A (p.Glu1283=) rs2113692806
NM_004415.4(DSP):c.3867G>A (p.Gln1289=)
NM_004415.4(DSP):c.387G>A (p.Arg129=)
NM_004415.4(DSP):c.3894C>A (p.Val1298=) rs1581816575
NM_004415.4(DSP):c.3899A>G (p.Gln1300Arg) rs1060500619
NM_004415.4(DSP):c.3905G>T (p.Arg1302Leu)
NM_004415.4(DSP):c.3909T>C (p.Ser1303=)
NM_004415.4(DSP):c.3918T>C (p.Asn1306=) rs761749643
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.3957C>T (p.Thr1319=) rs2113693020
NM_004415.4(DSP):c.3981C>A (p.Ile1327=) rs397516934
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys) rs746208168
NM_004415.4(DSP):c.3990C>G (p.Leu1330=)
NM_004415.4(DSP):c.3996T>A (p.Ala1332=)
NM_004415.4(DSP):c.4014C>T (p.Ala1338=)
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.402C>T (p.Pro134=) rs373685989
NM_004415.4(DSP):c.4084T>C (p.Leu1362=) rs2113693339
NM_004415.4(DSP):c.4098T>G (p.Phe1366Leu)
NM_004415.4(DSP):c.4104C>T (p.Thr1368=) rs1464715776
NM_004415.4(DSP):c.4113C>T (p.Asn1371=)
NM_004415.4(DSP):c.411T>G (p.Ala137=) rs745536008
NM_004415.4(DSP):c.4134C>T (p.His1378=)
NM_004415.4(DSP):c.4140C>T (p.Leu1380=) rs1759385261
NM_004415.4(DSP):c.4145T>G (p.Met1382Arg)
NM_004415.4(DSP):c.4188C>T (p.Asp1396=)
NM_004415.4(DSP):c.4197C>T (p.Thr1399=) rs1581817166
NM_004415.4(DSP):c.4209G>A (p.Arg1403=) rs1561698567
NM_004415.4(DSP):c.420A>G (p.Lys140=)
NM_004415.4(DSP):c.4213T>C (p.Leu1405=) rs1451895767
NM_004415.4(DSP):c.422+17A>G
NM_004415.4(DSP):c.422+7T>C
NM_004415.4(DSP):c.423-10T>G
NM_004415.4(DSP):c.423-11T>A rs1758598034
NM_004415.4(DSP):c.423-16G>A rs1561681390
NM_004415.4(DSP):c.4239G>A (p.Lys1413=) rs1581817246
NM_004415.4(DSP):c.4245T>A (p.Thr1415=) rs397516936
NM_004415.4(DSP):c.4245T>G (p.Thr1415=) rs397516936
NM_004415.4(DSP):c.4270A>C (p.Arg1424=) rs1581817293
NM_004415.4(DSP):c.4311C>T (p.Gly1437=) rs781353867
NM_004415.4(DSP):c.4317G>A (p.Glu1439=)
NM_004415.4(DSP):c.4344G>A (p.Glu1448=)
NM_004415.4(DSP):c.4350G>A (p.Glu1450=) rs1561698730
NM_004415.4(DSP):c.4365T>G (p.Thr1455=)
NM_004415.4(DSP):c.4372C>A (p.Arg1458=) rs28763965
NM_004415.4(DSP):c.4373G>T (p.Arg1458Leu) rs370063434
NM_004415.4(DSP):c.438A>G (p.Gln146=) rs2113659595
NM_004415.4(DSP):c.4392A>G (p.Arg1464=)
NM_004415.4(DSP):c.4414G>T (p.Ala1472Ser)
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg) rs756456881
NM_004415.4(DSP):c.4428C>A (p.Ile1476=)
NM_004415.4(DSP):c.4428C>T (p.Ile1476=) rs754071010
NM_004415.4(DSP):c.4491G>C (p.Arg1497=)
NM_004415.4(DSP):c.4497C>T (p.Cys1499=) rs892155521
NM_004415.4(DSP):c.4498C>T (p.Leu1500=) rs2113694241
NM_004415.4(DSP):c.4500G>A (p.Leu1500=)
NM_004415.4(DSP):c.4509A>G (p.Glu1503=) rs1350066172
NM_004415.4(DSP):c.4512C>T (p.Asn1504=) rs140993677
NM_004415.4(DSP):c.4515G>A (p.Ala1505=) rs193197554
NM_004415.4(DSP):c.4517G>A (p.Arg1506Lys)
NM_004415.4(DSP):c.4521A>G (p.Leu1507=) rs1060500611
NM_004415.4(DSP):c.4554C>T (p.Asn1518=) rs1359876288
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.4562C>T (p.Ala1521Val)
NM_004415.4(DSP):c.4563G>C (p.Ala1521=)
NM_004415.4(DSP):c.4566G>T (p.Thr1522=)
NM_004415.4(DSP):c.4569G>A (p.Glu1523=) rs772831377
NM_004415.4(DSP):c.4582C>T (p.Leu1528=)
NM_004415.4(DSP):c.4623C>T (p.Asp1541=) rs1554108349
NM_004415.4(DSP):c.4632G>T (p.Arg1544Ser)
NM_004415.4(DSP):c.4635T>C (p.Val1545=)
NM_004415.4(DSP):c.4644G>A (p.Glu1548=) rs1275385323
NM_004415.4(DSP):c.4648A>T (p.Thr1550Ser)
NM_004415.4(DSP):c.4673G>A (p.Arg1558Gln)
NM_004415.4(DSP):c.4674G>T (p.Arg1558=)
NM_004415.4(DSP):c.4686T>A (p.Ser1562=) rs898212782
NM_004415.4(DSP):c.4686T>C (p.Ser1562=)
NM_004415.4(DSP):c.4689G>C (p.Leu1563=) rs763150071
NM_004415.4(DSP):c.4696C>A (p.Leu1566Met)
NM_004415.4(DSP):c.46C>A (p.Arg16Ser) rs754773488
NM_004415.4(DSP):c.46C>T (p.Arg16Cys)
NM_004415.4(DSP):c.4713G>C (p.Gln1571His) rs375381133
NM_004415.4(DSP):c.4717G>A (p.Val1573Met) rs370171270
NM_004415.4(DSP):c.471T>C (p.Ser157=)
NM_004415.4(DSP):c.4731G>A (p.Leu1577=) rs2113694756
NM_004415.4(DSP):c.4731G>C (p.Leu1577=) rs2113694756
NM_004415.4(DSP):c.4737G>A (p.Arg1579=)
NM_004415.4(DSP):c.4740G>A (p.Leu1580=) rs2113694768
NM_004415.4(DSP):c.4743G>A (p.Lys1581=)
NM_004415.4(DSP):c.4749C>A (p.Thr1583=)
NM_004415.4(DSP):c.474C>T (p.Val158=)
NM_004415.4(DSP):c.4770G>A (p.Lys1590=)
NM_004415.4(DSP):c.478C>G (p.Arg160Gly)
NM_004415.4(DSP):c.4790A>C (p.Glu1597Ala)
NM_004415.4(DSP):c.4791G>A (p.Glu1597=)
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.4813C>T (p.Leu1605=)
NM_004415.4(DSP):c.4815G>A (p.Leu1605=) rs2113694971
NM_004415.4(DSP):c.4821G>A (p.Glu1607=) rs1030367156
NM_004415.4(DSP):c.4826C>T (p.Ala1609Val)
NM_004415.4(DSP):c.4842C>T (p.Asn1614=) rs757848942
NM_004415.4(DSP):c.484C>G (p.Arg162Gly) rs760711308
NM_004415.4(DSP):c.485G>A (p.Arg162His) rs397516944
NM_004415.4(DSP):c.4866A>C (p.Ala1622=)
NM_004415.4(DSP):c.4881G>A (p.Lys1627=)
NM_004415.4(DSP):c.4881G>T (p.Lys1627Asn)
NM_004415.4(DSP):c.4899C>T (p.Leu1633=) rs876657459
NM_004415.4(DSP):c.48C>A (p.Arg16=) rs755777329
NM_004415.4(DSP):c.4922A>G (p.Asp1641Gly) rs765847051
NM_004415.4(DSP):c.492C>G (p.Ala164=) rs2113659755
NM_004415.4(DSP):c.4935G>A (p.Arg1645=) rs751059120
NM_004415.4(DSP):c.4953G>A (p.Gln1651=) rs2113695297
NM_004415.4(DSP):c.4971C>G (p.Leu1657=)
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr) rs1290867734
NM_004415.4(DSP):c.5016G>A (p.Gln1672=) rs1759428613
NM_004415.4(DSP):c.501G>C (p.Lys167Asn)
NM_004415.4(DSP):c.502G>A (p.Gly168Ser) rs1308747530
NM_004415.4(DSP):c.5042G>A (p.Arg1681Lys) rs1274117174
NM_004415.4(DSP):c.505G>T (p.Gly169Cys)
NM_004415.4(DSP):c.5061G>A (p.Lys1687=)
NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn) rs754404501
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.5064G>T (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.5071G>A (p.Asp1691Asn)
NM_004415.4(DSP):c.5115G>C (p.Arg1705Ser)
NM_004415.4(DSP):c.5116C>T (p.Leu1706=) rs1759432452
NM_004415.4(DSP):c.5139G>A (p.Leu1713=) rs1759433301
NM_004415.4(DSP):c.5142C>G (p.Thr1714=) rs1275224079
NM_004415.4(DSP):c.5169A>G (p.Glu1723=) rs1368627358
NM_004415.4(DSP):c.5172G>C (p.Leu1724=) rs2113695733
NM_004415.4(DSP):c.5178C>T (p.Asn1726=)
NM_004415.4(DSP):c.5181G>A (p.Leu1727=) rs1172441662
NM_004415.4(DSP):c.5188G>C (p.Glu1730Gln)
NM_004415.4(DSP):c.5196T>C (p.Asp1732=)
NM_004415.4(DSP):c.5205G>A (p.Arg1735=) rs1561700008
NM_004415.4(DSP):c.5211A>G (p.Gly1737=) rs1581819049
NM_004415.4(DSP):c.5223G>C (p.Ala1741=) rs201984474
NM_004415.4(DSP):c.5225A>G (p.Asp1742Gly)
NM_004415.4(DSP):c.5250G>A (p.Leu1750=)
NM_004415.4(DSP):c.5259G>A (p.Arg1753=) rs2113695961
NM_004415.4(DSP):c.5268G>A (p.Leu1756=)
NM_004415.4(DSP):c.5291T>A (p.Leu1764Gln) rs767885673
NM_004415.4(DSP):c.5304G>A (p.Gly1768=)
NM_004415.4(DSP):c.5353G>A (p.Glu1785Lys) rs528041468
NM_004415.4(DSP):c.5355G>A (p.Glu1785=) rs546610553
NM_004415.4(DSP):c.5364A>G (p.Gln1788=)
NM_004415.4(DSP):c.5379+8C>G rs771984464
NM_004415.4(DSP):c.537C>T (p.Gly179=)
NM_004415.4(DSP):c.5380-16_5380-13del
NM_004415.4(DSP):c.5380-20_5380-13del
NM_004415.4(DSP):c.5380-6T>C
NM_004415.4(DSP):c.5380-8A>C
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098
NM_004415.4(DSP):c.5442C>T (p.Ser1814=)
NM_004415.4(DSP):c.5448G>C (p.Leu1816=) rs1270969886
NM_004415.4(DSP):c.5449G>A (p.Val1817Met)
NM_004415.4(DSP):c.5481A>G (p.Ala1827=)
NM_004415.4(DSP):c.5489A>G (p.Gln1830Arg)
NM_004415.4(DSP):c.5492G>A (p.Arg1831Lys)
NM_004415.4(DSP):c.54C>T (p.Ile18=)
NM_004415.4(DSP):c.5517A>G (p.Ala1839=) rs764240800
NM_004415.4(DSP):c.5526T>C (p.Thr1842=) rs2113698060
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.5553G>A (p.Gln1851=)
NM_004415.4(DSP):c.5598G>A (p.Gln1866=)
NM_004415.4(DSP):c.55C>T (p.Arg19Cys) rs777340009
NM_004415.4(DSP):c.564C>T (p.Thr188=) rs2113659978
NM_004415.4(DSP):c.5669G>A (p.Arg1890Lys)
NM_004415.4(DSP):c.5679C>T (p.Asn1893=) rs1367738238
NM_004415.4(DSP):c.5697C>T (p.Ile1899=) rs879254348
NM_004415.4(DSP):c.5706C>G (p.Leu1902=) rs879254349
NM_004415.4(DSP):c.5706C>T (p.Leu1902=)
NM_004415.4(DSP):c.5709A>G (p.Gln1903=)
NM_004415.4(DSP):c.5711C>T (p.Ala1904Val) rs1473162721
NM_004415.4(DSP):c.572G>A (p.Cys191Tyr)
NM_004415.4(DSP):c.5734A>C (p.Arg1912=)
NM_004415.4(DSP):c.5736G>A (p.Arg1912=) rs371873840
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser) rs371873840
NM_004415.4(DSP):c.5743C>A (p.Arg1915Ser)
NM_004415.4(DSP):c.5745T>C (p.Arg1915=) rs2113698631
NM_004415.4(DSP):c.5748G>A (p.Lys1916=)
NM_004415.4(DSP):c.575T>C (p.Leu192Ser)
NM_004415.4(DSP):c.576G>A (p.Leu192=) rs1758608540
NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)
NM_004415.4(DSP):c.5790A>C (p.Thr1930=)
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)
NM_004415.4(DSP):c.57C>A (p.Arg19=) rs2113628728
NM_004415.4(DSP):c.5819A>T (p.Asp1940Val) rs1430290356
NM_004415.4(DSP):c.5838A>G (p.Pro1946=)
NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)
NM_004415.4(DSP):c.5844G>C (p.Gly1948=)
NM_004415.4(DSP):c.5844G>T (p.Gly1948=)
NM_004415.4(DSP):c.5852G>A (p.Arg1951Gln)
NM_004415.4(DSP):c.5859C>T (p.Thr1953=)
NM_004415.4(DSP):c.5892C>T (p.Ser1964=)
NM_004415.4(DSP):c.5898G>A (p.Leu1966=) rs1026631797
NM_004415.4(DSP):c.5901G>T (p.Val1967=) rs2113699039
NM_004415.4(DSP):c.5907T>C (p.Asp1969=)
NM_004415.4(DSP):c.5910G>A (p.Gly1970=)
NM_004415.4(DSP):c.5916G>A (p.Arg1972=) rs1581821297
NM_004415.4(DSP):c.591G>A (p.Gln197=) rs2113660086
NM_004415.4(DSP):c.5958C>A (p.Ile1986=)
NM_004415.4(DSP):c.597+15G>A
NM_004415.4(DSP):c.597+17A>G rs779437301
NM_004415.4(DSP):c.597+19A>C
NM_004415.4(DSP):c.5972T>C (p.Leu1991Ser)
NM_004415.4(DSP):c.598-13_598-8del
NM_004415.4(DSP):c.598-19C>G
NM_004415.4(DSP):c.598-19C>T
NM_004415.4(DSP):c.598-4G>T rs747448946
NM_004415.4(DSP):c.5982A>T (p.Leu1994=)
NM_004415.4(DSP):c.5988G>A (p.Lys1996=)
NM_004415.4(DSP):c.600G>A (p.Ala200=) rs748400605
NM_004415.4(DSP):c.6021A>G (p.Glu2007=)
NM_004415.4(DSP):c.6028C>T (p.Pro2010Ser)
NM_004415.4(DSP):c.6034C>T (p.Leu2012Phe)
NM_004415.4(DSP):c.6037C>T (p.Arg2013Trp)
NM_004415.4(DSP):c.603G>A (p.Glu201=) rs770080985
NM_004415.4(DSP):c.604A>G (p.Met202Val)
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.6063A>T (p.Ala2021=)
NM_004415.4(DSP):c.6068C>G (p.Ala2023Gly)
NM_004415.4(DSP):c.6072T>C (p.Ser2024=)
NM_004415.4(DSP):c.6075T>A (p.Pro2025=) rs2113699490
NM_004415.4(DSP):c.6084A>G (p.Lys2028=) rs2113699503
NM_004415.4(DSP):c.6090T>A (p.Ser2030=)
NM_004415.4(DSP):c.6105G>A (p.Lys2035=) rs2113699553
NM_004415.4(DSP):c.6117A>G (p.Leu2039=)
NM_004415.4(DSP):c.6120C>T (p.Ile2040=)
NM_004415.4(DSP):c.6138C>A (p.Val2046=)
NM_004415.4(DSP):c.6171T>C (p.Gly2057=)
NM_004415.4(DSP):c.6176T>C (p.Ile2059Thr)
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp) rs374090050
NM_004415.4(DSP):c.6207C>G (p.Val2069=)
NM_004415.4(DSP):c.6222T>G (p.Ala2074=) rs1759520376
NM_004415.4(DSP):c.6231C>T (p.Leu2077=)
NM_004415.4(DSP):c.6237C>T (p.Asp2079=) rs1309030788
NM_004415.4(DSP):c.6243T>C (p.Asp2081=) rs1759521514
NM_004415.4(DSP):c.6260A>G (p.Tyr2087Cys) rs1244910374
NM_004415.4(DSP):c.6262G>T (p.Ala2088Ser)
NM_004415.4(DSP):c.6297A>G (p.Pro2099=) rs1759525136
NM_004415.4(DSP):c.6305G>T (p.Gly2102Val)
NM_004415.4(DSP):c.6306C>T (p.Gly2102=)
NM_004415.4(DSP):c.630C>T (p.Asp210=) rs2113665093
NM_004415.4(DSP):c.6312A>G (p.Thr2104=)
NM_004415.4(DSP):c.6335A>G (p.Lys2112Arg)
NM_004415.4(DSP):c.6340A>G (p.Asn2114Asp) rs561452524
NM_004415.4(DSP):c.6354A>G (p.Arg2118=)
NM_004415.4(DSP):c.6367C>A (p.Arg2123Ser)
NM_004415.4(DSP):c.6375G>A (p.Leu2125=) rs2113700156
NM_004415.4(DSP):c.6378A>G (p.Glu2126=)
NM_004415.4(DSP):c.6395G>A (p.Gly2132Glu)
NM_004415.4(DSP):c.63G>A (p.Glu21=)
NM_004415.4(DSP):c.6408C>T (p.Asp2136=) rs771641035
NM_004415.4(DSP):c.6417C>T (p.Asn2139=)
NM_004415.4(DSP):c.6432A>G (p.Pro2144=) rs773730187
NM_004415.4(DSP):c.6432A>T (p.Pro2144=) rs773730187
NM_004415.4(DSP):c.6441C>T (p.Val2147=) rs762513279
NM_004415.4(DSP):c.6453G>A (p.Arg2151=)
NM_004415.4(DSP):c.6456G>A (p.Gly2152=)
NM_004415.4(DSP):c.6472T>C (p.Leu2158=) rs1455927842
NM_004415.4(DSP):c.6477T>C (p.Tyr2159=) rs1014118868
NM_004415.4(DSP):c.6479G>C (p.Arg2160Pro) rs146642551
NM_004415.4(DSP):c.6480A>T (p.Arg2160=)
NM_004415.4(DSP):c.6482C>T (p.Ser2161Phe)
NM_004415.4(DSP):c.6483C>G (p.Ser2161=) rs560775653
NM_004415.4(DSP):c.6495C>G (p.Pro2165=)
NM_004415.4(DSP):c.6501T>C (p.Asp2167=) rs2113700524
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.4(DSP):c.6552G>T (p.Val2184=) rs2113700626
NM_004415.4(DSP):c.6555G>A (p.Gln2185=) rs1759540115
NM_004415.4(DSP):c.6564A>C (p.Glu2188Asp)
NM_004415.4(DSP):c.6565C>A (p.Arg2189=)
NM_004415.4(DSP):c.6565C>G (p.Arg2189Gly)
NM_004415.4(DSP):c.6567G>T (p.Arg2189=)
NM_004415.4(DSP):c.6570C>T (p.Cys2190=)
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys) rs527888978
NM_004415.4(DSP):c.6576C>T (p.Ile2192=) rs1032400756
NM_004415.4(DSP):c.6584A>G (p.His2195Arg)
NM_004415.4(DSP):c.6590G>A (p.Gly2197Asp)
NM_004415.4(DSP):c.6592C>T (p.Leu2198=) rs752057967
NM_004415.4(DSP):c.6597C>G (p.Leu2199=)
NM_004415.4(DSP):c.6603T>G (p.Leu2201=) rs758152190
NM_004415.4(DSP):c.6630C>T (p.Phe2210=)
NM_004415.4(DSP):c.6640A>C (p.Arg2214=)
NM_004415.4(DSP):c.6643C>A (p.Gln2215Lys)
NM_004415.4(DSP):c.6654C>G (p.Thr2218=) rs727503005
NM_004415.4(DSP):c.6657C>T (p.Val2219=)
NM_004415.4(DSP):c.6669A>T (p.Val2223=)
NM_004415.4(DSP):c.666G>A (p.Arg222=)
NM_004415.4(DSP):c.666G>T (p.Arg222=) rs2113665201
NM_004415.4(DSP):c.6675T>C (p.Ser2225=) rs2113700866
NM_004415.4(DSP):c.6702T>C (p.Asn2234=) rs2113700924
NM_004415.4(DSP):c.6723T>A (p.Ile2241=) rs1219037519
NM_004415.4(DSP):c.6729T>C (p.Tyr2243=)
NM_004415.4(DSP):c.6732C>G (p.Asp2244Glu)
NM_004415.4(DSP):c.6744G>A (p.Glu2248=) rs1581822997
NM_004415.4(DSP):c.6771A>G (p.Ser2257=) rs2113701029
NM_004415.4(DSP):c.6785G>A (p.Gly2262Asp)
NM_004415.4(DSP):c.6828G>A (p.Glu2276=) rs2113701105
NM_004415.4(DSP):c.6843C>T (p.Gly2281=)
NM_004415.4(DSP):c.6849C>G (p.Val2283=) rs2113701124
NM_004415.4(DSP):c.684C>A (p.Ile228=)
NM_004415.4(DSP):c.684C>T (p.Ile228=) rs753444512
NM_004415.4(DSP):c.6851G>A (p.Arg2284Gln)
NM_004415.4(DSP):c.685G>A (p.Gly229Ser) rs376185352
NM_004415.4(DSP):c.6865C>T (p.Leu2289=)
NM_004415.4(DSP):c.6871T>C (p.Leu2291=)
NM_004415.4(DSP):c.6873G>A (p.Leu2291=)
NM_004415.4(DSP):c.6885A>G (p.Gln2295=)
NM_004415.4(DSP):c.6894T>C (p.Thr2298=)
NM_004415.4(DSP):c.6918C>T (p.Ser2306=) rs1275471884
NM_004415.4(DSP):c.6937G>A (p.Glu2313Lys) rs1411539976
NM_004415.4(DSP):c.6945C>A (p.Ala2315=) rs761888068
NM_004415.4(DSP):c.694C>T (p.Arg232Cys) rs777847026
NM_004415.4(DSP):c.6953G>C (p.Arg2318Thr) rs773192441
NM_004415.4(DSP):c.6963G>A (p.Val2321=) rs2113701399
NM_004415.4(DSP):c.6969T>C (p.Ile2323=)
NM_004415.4(DSP):c.6972G>A (p.Glu2324=) rs2113701409
NM_004415.4(DSP):c.6993T>C (p.Ser2331=) rs767282172
NM_004415.4(DSP):c.6C>T (p.Ser2=) rs776052488
NM_004415.4(DSP):c.7014G>A (p.Gly2338=) rs1054965369
NM_004415.4(DSP):c.7017T>C (p.Tyr2339=) rs753946358
NM_004415.4(DSP):c.7033G>C (p.Gly2345Arg)
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu) rs768837509
NM_004415.4(DSP):c.7044C>T (p.Ile2348=) rs2113701537
NM_004415.4(DSP):c.706G>C (p.Asp236His) rs1044634464
NM_004415.4(DSP):c.7077C>A (p.Ile2359=)
NM_004415.4(DSP):c.7090G>A (p.Gly2364Ser)
NM_004415.4(DSP):c.7128G>A (p.Gly2376=)
NM_004415.4(DSP):c.7131C>A (p.Ile2377=) rs1581823562
NM_004415.4(DSP):c.7154G>A (p.Arg2385His) rs1396768987
NM_004415.4(DSP):c.7167C>T (p.Asp2389=) rs2113701740
NM_004415.4(DSP):c.7176T>C (p.Tyr2392=)
NM_004415.4(DSP):c.7177A>C (p.Lys2393Gln)
NM_004415.4(DSP):c.717A>G (p.Lys239=)
NM_004415.4(DSP):c.7205G>C (p.Ser2402Thr)
NM_004415.4(DSP):c.7224A>C (p.Pro2408=) rs376081052
NM_004415.4(DSP):c.726+11G>A
NM_004415.4(DSP):c.726+19T>C
NM_004415.4(DSP):c.726+20T>G
NM_004415.4(DSP):c.726+9_726+12del
NM_004415.4(DSP):c.7269T>C (p.Asn2423=) rs1759564582
NM_004415.4(DSP):c.727-12del rs2113666826
NM_004415.4(DSP):c.727-13T>C rs1293172796
NM_004415.4(DSP):c.727-20T>G
NM_004415.4(DSP):c.727-5_727-3del
NM_004415.4(DSP):c.727-6T>C
NM_004415.4(DSP):c.727-9G>C
NM_004415.4(DSP):c.7284A>G (p.Gln2428=) rs1759565168
NM_004415.4(DSP):c.7295G>T (p.Arg2432Ile)
NM_004415.4(DSP):c.7299C>T (p.Cys2433=) rs2113702040
NM_004415.4(DSP):c.729C>G (p.Arg243=) rs141028505
NM_004415.4(DSP):c.7307A>T (p.Asp2436Val)
NM_004415.4(DSP):c.7320G>C (p.Gly2440=)
NM_004415.4(DSP):c.7335T>A (p.Pro2445=) rs1262869578
NM_004415.4(DSP):c.7359G>A (p.Val2453=) rs2113702163
NM_004415.4(DSP):c.735A>G (p.Lys245=)
NM_004415.4(DSP):c.7374G>T (p.Lys2458Asn)
NM_004415.4(DSP):c.7410C>T (p.Asp2470=) rs2113702276
NM_004415.4(DSP):c.741G>C (p.Ala247=)
NM_004415.4(DSP):c.7443G>A (p.Glu2481=) rs2113702324
NM_004415.4(DSP):c.7449C>T (p.Tyr2483=)
NM_004415.4(DSP):c.7458C>T (p.Gly2486=) rs1049252239
NM_004415.4(DSP):c.7488G>C (p.Leu2496=)
NM_004415.4(DSP):c.7497G>A (p.Gln2499=)
NM_004415.4(DSP):c.7521C>T (p.Thr2507=)
NM_004415.4(DSP):c.7546A>C (p.Arg2516=)
NM_004415.4(DSP):c.7554C>A (p.Val2518=) rs573057380
NM_004415.4(DSP):c.7554C>T (p.Val2518=)
NM_004415.4(DSP):c.7557G>T (p.Leu2519=)
NM_004415.4(DSP):c.7581G>A (p.Gln2527=) rs879254350
NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr) rs768564872
NM_004415.4(DSP):c.7608G>A (p.Lys2536=) rs2113702785
NM_004415.4(DSP):c.7611C>T (p.Gly2537=)
NM_004415.4(DSP):c.7615G>A (p.Val2539Ile)
NM_004415.4(DSP):c.7621A>C (p.Arg2541=)
NM_004415.4(DSP):c.7638G>A (p.Gln2546=)
NM_004415.4(DSP):c.7641C>T (p.Tyr2547=)
NM_004415.4(DSP):c.7643G>A (p.Arg2548Gln) rs377565339
NM_004415.4(DSP):c.7647C>T (p.Ser2549=) rs765385403
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.7650C>G (p.Gly2550=)
NM_004415.4(DSP):c.7656C>T (p.Leu2552=) rs954061184
NM_004415.4(DSP):c.7665T>A (p.Thr2555=)
NM_004415.4(DSP):c.7667A>T (p.Gln2556Leu) rs760434412
NM_004415.4(DSP):c.7668A>G (p.Gln2556=)
NM_004415.4(DSP):c.7701C>G (p.Val2567=)
NM_004415.4(DSP):c.7706C>T (p.Thr2569Ile) rs770464104
NM_004415.4(DSP):c.7716C>T (p.Ser2572=) rs773824736
NM_004415.4(DSP):c.7725T>C (p.Ser2575=)
NM_004415.4(DSP):c.7728T>G (p.Gly2576=) rs545149894
NM_004415.4(DSP):c.774G>A (p.Leu258=)
NM_004415.4(DSP):c.7752C>T (p.Ser2584=) rs1554109092
NM_004415.4(DSP):c.7758A>G (p.Arg2586=) rs1581824761
NM_004415.4(DSP):c.777+19C>T
NM_004415.4(DSP):c.777+7T>C
NM_004415.4(DSP):c.7779T>A (p.Ile2593=)
NM_004415.4(DSP):c.778-11C>T rs766022259
NM_004415.4(DSP):c.778-15G>A rs2113669114
NM_004415.4(DSP):c.778-20C>A
NM_004415.4(DSP):c.778-6G>T rs1561685227
NM_004415.4(DSP):c.7809C>T (p.Thr2603=)
NM_004415.4(DSP):c.780A>G (p.Lys260=) rs1554106489
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.4(DSP):c.7823C>T (p.Ser2608Phe) rs777066674
NM_004415.4(DSP):c.7833C>T (p.Asp2611=)
NM_004415.4(DSP):c.7836C>G (p.Thr2612=)
NM_004415.4(DSP):c.7837C>T (p.Leu2613=) rs1286275087
NM_004415.4(DSP):c.7839G>A (p.Leu2613=) rs770324205
NM_004415.4(DSP):c.7893C>A (p.Ile2631=) rs778552693
NM_004415.4(DSP):c.7893C>T (p.Ile2631=) rs778552693
NM_004415.4(DSP):c.78G>A (p.Leu26=)
NM_004415.4(DSP):c.78G>T (p.Leu26=) rs71559180
NM_004415.4(DSP):c.7920C>T (p.Gly2640=)
NM_004415.4(DSP):c.7935C>T (p.Ile2645=)
NM_004415.4(DSP):c.7938G>A (p.Thr2646=)
NM_004415.4(DSP):c.7947G>A (p.Arg2649=)
NM_004415.4(DSP):c.7951C>T (p.Leu2651=)
NM_004415.4(DSP):c.7963G>T (p.Ala2655Ser)
NM_004415.4(DSP):c.7968C>T (p.Cys2656=) rs2113703768
NM_004415.4(DSP):c.7971A>G (p.Thr2657=) rs2113703783
NM_004415.4(DSP):c.7986C>T (p.His2662=) rs753720770
NM_004415.4(DSP):c.7989A>G (p.Pro2663=)
NM_004415.4(DSP):c.7995G>C (p.Thr2665=)
NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp) rs750085948
NM_004415.4(DSP):c.79C>T (p.Arg27Cys)
NM_004415.4(DSP):c.8004G>A (p.Lys2668=) rs1581825294
NM_004415.4(DSP):c.8007G>A (p.Leu2669=) rs746561567
NM_004415.4(DSP):c.8021C>G (p.Ala2674Gly) rs778480531
NM_004415.4(DSP):c.8035G>A (p.Val2679Met)
NM_004415.4(DSP):c.8064G>A (p.Leu2688=) rs1581825424
NM_004415.4(DSP):c.8067G>C (p.Lys2689Asn)
NM_004415.4(DSP):c.807G>A (p.Leu269=)
NM_004415.4(DSP):c.8095G>C (p.Glu2699Gln)
NM_004415.4(DSP):c.8097G>A (p.Glu2699=) rs1478062594
NM_004415.4(DSP):c.8106G>A (p.Lys2702=)
NM_004415.4(DSP):c.8115G>A (p.Lys2705=) rs1759619330
NM_004415.4(DSP):c.8130A>G (p.Ala2710=) rs1440748149
NM_004415.4(DSP):c.8133G>A (p.Glu2711=) rs375348086
NM_004415.4(DSP):c.8139G>A (p.Val2713=)
NM_004415.4(DSP):c.8139G>C (p.Val2713=) rs555992606
NM_004415.4(DSP):c.8148A>G (p.Lys2716=)
NM_004415.4(DSP):c.8169C>G (p.Gly2723=) rs1259495339
NM_004415.4(DSP):c.8178C>T (p.Phe2726=) rs901698792
NM_004415.4(DSP):c.8187C>T (p.Phe2729=) rs369619485
NM_004415.4(DSP):c.8199G>A (p.Thr2733=) rs145085696
NM_004415.4(DSP):c.8199G>T (p.Thr2733=)
NM_004415.4(DSP):c.81C>A (p.Arg27=) rs773559423
NM_004415.4(DSP):c.81C>G (p.Arg27=)
NM_004415.4(DSP):c.8211T>G (p.Val2737=) rs543240936
NM_004415.4(DSP):c.8232G>A (p.Arg2744=) rs780253169
NM_004415.4(DSP):c.8238C>T (p.Ser2746=) rs781351433
NM_004415.4(DSP):c.8241C>G (p.Thr2747=)
NM_004415.4(DSP):c.8241C>T (p.Thr2747=)
NM_004415.4(DSP):c.8253C>A (p.Ile2751=) rs1165200201
NM_004415.4(DSP):c.8254C>T (p.Arg2752Trp)
NM_004415.4(DSP):c.8262G>A (p.Gly2754=) rs187226788
NM_004415.4(DSP):c.8262G>T (p.Gly2754=) rs187226788
NM_004415.4(DSP):c.8271T>C (p.Asp2757=)
NM_004415.4(DSP):c.8280C>T (p.Ala2760=) rs1203424345
NM_004415.4(DSP):c.82T>C (p.Tyr28His)
NM_004415.4(DSP):c.8301C>T (p.Thr2767=)
NM_004415.4(DSP):c.8302A>G (p.Ser2768Gly)
NM_004415.4(DSP):c.8313C>T (p.Ala2771=)
NM_004415.4(DSP):c.8316A>G (p.Lys2772=) rs2113704844
NM_004415.4(DSP):c.8320C>T (p.Leu2774=) rs397516964
NM_004415.4(DSP):c.8322G>A (p.Leu2774=) rs1455098095
NM_004415.4(DSP):c.8324C>T (p.Thr2775Ile)
NM_004415.4(DSP):c.8325C>G (p.Thr2775=) rs2113704869
NM_004415.4(DSP):c.8328C>T (p.Cys2776=)
NM_004415.4(DSP):c.8343A>T (p.Leu2781Phe)
NM_004415.4(DSP):c.8354A>G (p.Tyr2785Cys)
NM_004415.4(DSP):c.8382A>G (p.Val2794=) rs1025921677
NM_004415.4(DSP):c.8388T>C (p.Asp2796=) rs1478242707
NM_004415.4(DSP):c.8391C>A (p.Ile2797=) rs372909009
NM_004415.4(DSP):c.8403C>G (p.Arg2801=)
NM_004415.4(DSP):c.8414C>T (p.Ala2805Val)
NM_004415.4(DSP):c.8418C>A (p.Ala2806=) rs1581826536
NM_004415.4(DSP):c.843G>A (p.Arg281=) rs1427960878
NM_004415.4(DSP):c.8442C>A (p.Pro2814=) rs1581826610
NM_004415.4(DSP):c.8442C>T (p.Pro2814=) rs1581826610
NM_004415.4(DSP):c.8451C>T (p.Tyr2817=)
NM_004415.4(DSP):c.8463G>A (p.Ser2821=)
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4]) rs397516967
NM_004415.4(DSP):c.8476C>G (p.Arg2826Gly) rs139969658
NM_004415.4(DSP):c.8478C>T (p.Arg2826=)
NM_004415.4(DSP):c.8481C>G (p.Ser2827=)
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4]) rs397516968
NM_004415.4(DSP):c.8484C>T (p.Gly2828=) rs1467235605
NM_004415.4(DSP):c.8487_8498del (p.2827_2830SGSR[4]) rs727504704
NM_004415.4(DSP):c.8490C>A (p.Arg2830=) rs1221382084
NM_004415.4(DSP):c.8493G>A (p.Ser2831=) rs397516969
NM_004415.4(DSP):c.8493_8504del (p.2827SGSR[4]) rs748194022
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4]) rs397516971
NM_004415.4(DSP):c.8499T>C (p.Ser2833=) rs1468666445
NM_004415.4(DSP):c.8505C>G (p.Ser2835=)
NM_004415.4(DSP):c.8512C>T (p.Arg2838Cys)
NM_004415.4(DSP):c.8515_8517delinsAGT (p.Ser2839=) rs1554109285
NM_004415.4(DSP):c.8516C>G (p.Ser2839Cys) rs750438076
NM_004415.4(DSP):c.8517C>G (p.Ser2839=)
NM_004415.4(DSP):c.8526C>T (p.Arg2842=)
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4]) rs794728151
NM_004415.4(DSP):c.8544A>T (p.Gly2848=)
NM_004415.4(DSP):c.8553C>T (p.Asp2851=) rs1554109307
NM_004415.4(DSP):c.8556C>T (p.Ala2852=) rs1163538965
NM_004415.4(DSP):c.8559A>C (p.Thr2853=) rs1759653585
NM_004415.4(DSP):c.8559A>G (p.Thr2853=) rs1759653585
NM_004415.4(DSP):c.8582C>T (p.Ser2861Phe) rs1269834512
NM_004415.4(DSP):c.8586C>T (p.Tyr2862=)
NM_004415.4(DSP):c.8598T>C (p.Ser2866=)
NM_004415.4(DSP):c.85G>A (p.Glu29Lys)
NM_004415.4(DSP):c.8601T>C (p.Ser2867=)
NM_004415.4(DSP):c.882G>A (p.Leu294=) rs2113669406
NM_004415.4(DSP):c.891C>T (p.Asp297=) rs2113669443
NM_004415.4(DSP):c.90G>A (p.Val30=)
NM_004415.4(DSP):c.939+11C>G
NM_004415.4(DSP):c.939+11C>T
NM_004415.4(DSP):c.939+13C>A
NM_004415.4(DSP):c.939+13dup rs730880360
NM_004415.4(DSP):c.939+15C>T
NM_004415.4(DSP):c.939+18G>A
NM_004415.4(DSP):c.939+20C>T
NM_004415.4(DSP):c.939+3_939+6dup
NM_004415.4(DSP):c.939+8C>G
NM_004415.4(DSP):c.939+9A>G
NM_004415.4(DSP):c.940-11T>C
NM_004415.4(DSP):c.940-12C>T rs2113670873
NM_004415.4(DSP):c.944G>T (p.Arg315Leu) rs558825586
NM_004415.4(DSP):c.945C>T (p.Arg315=)
NM_004415.4(DSP):c.955C>T (p.Leu319=) rs777852039
NM_004415.4(DSP):c.96C>T (p.Ser32=) rs1440994214
NM_004415.4(DSP):c.971A>G (p.Lys324Arg)
NM_004415.4(DSP):c.992A>G (p.Gln331Arg) rs746517026
NM_004415.4(DSP):c.99C>T (p.Gly33=) rs755898551
NM_014112.5(TRPS1):c.1014T>C (p.Asp338=)
NM_014112.5(TRPS1):c.1041C>T (p.Arg347=)
NM_014112.5(TRPS1):c.105G>A (p.Glu35=)
NM_014112.5(TRPS1):c.1074C>T (p.Asn358=)
NM_014112.5(TRPS1):c.1083C>A (p.Thr361=)
NM_014112.5(TRPS1):c.1092A>G (p.Glu364=)
NM_014112.5(TRPS1):c.1113C>T (p.His371=) rs2130494267
NM_014112.5(TRPS1):c.1130C>T (p.Ala377Val)
NM_014112.5(TRPS1):c.1154C>G (p.Ala385Gly)
NM_014112.5(TRPS1):c.1179C>T (p.Asn393=)
NM_014112.5(TRPS1):c.1233G>A (p.Gln411=)
NM_014112.5(TRPS1):c.1266T>C (p.Thr422=)
NM_014112.5(TRPS1):c.1395A>G (p.Leu465=) rs1315134646
NM_014112.5(TRPS1):c.1434C>T (p.Gly478=)
NM_014112.5(TRPS1):c.1467C>T (p.Ser489=)
NM_014112.5(TRPS1):c.1475C>T (p.Ser492Phe)
NM_014112.5(TRPS1):c.152C>T (p.Ser51Phe)
NM_014112.5(TRPS1):c.153T>C (p.Ser51=)
NM_014112.5(TRPS1):c.1545G>A (p.Ser515=)
NM_014112.5(TRPS1):c.1545G>T (p.Ser515=)
NM_014112.5(TRPS1):c.1584C>T (p.Ala528=)
NM_014112.5(TRPS1):c.1585G>A (p.Glu529Lys)
NM_014112.5(TRPS1):c.1650C>A (p.Gly550=)
NM_014112.5(TRPS1):c.176C>T (p.Thr59Met)
NM_014112.5(TRPS1):c.177G>A (p.Thr59=)
NM_014112.5(TRPS1):c.1782T>C (p.Ile594=)
NM_014112.5(TRPS1):c.1784C>T (p.Thr595Ile)
NM_014112.5(TRPS1):c.1791G>A (p.Pro597=)
NM_014112.5(TRPS1):c.1869G>A (p.Ser623=) rs751550383
NM_014112.5(TRPS1):c.1869G>T (p.Ser623=) rs751550383
NM_014112.5(TRPS1):c.1929C>G (p.Leu643=)
NM_014112.5(TRPS1):c.1947G>T (p.Val649=)
NM_014112.5(TRPS1):c.1964C>T (p.Ser655Leu)
NM_014112.5(TRPS1):c.1974A>G (p.Lys658=)
NM_014112.5(TRPS1):c.1992G>A (p.Leu664=)
NM_014112.5(TRPS1):c.2000C>T (p.Ser667Leu)
NM_014112.5(TRPS1):c.2001G>A (p.Ser667=) rs766238512
NM_014112.5(TRPS1):c.2026A>C (p.Ser676Arg)
NM_014112.5(TRPS1):c.2044A>G (p.Thr682Ala)
NM_014112.5(TRPS1):c.2087G>A (p.Arg696Gln)
NM_014112.5(TRPS1):c.2096+10G>T
NM_014112.5(TRPS1):c.2096+11G>C rs754841326
NM_014112.5(TRPS1):c.2097-12C>T
NM_014112.5(TRPS1):c.2097-14T>C
NM_014112.5(TRPS1):c.2145C>T (p.Ala715=)
NM_014112.5(TRPS1):c.2310A>G (p.Gly770=)
NM_014112.5(TRPS1):c.238C>T (p.Pro80Ser)
NM_014112.5(TRPS1):c.2437C>T (p.Leu813=)
NM_014112.5(TRPS1):c.2442G>A (p.Arg814=)
NM_014112.5(TRPS1):c.2451G>A (p.Pro817=)
NM_014112.5(TRPS1):c.2514G>A (p.Lys838=)
NM_014112.5(TRPS1):c.2523G>A (p.Arg841=)
NM_014112.5(TRPS1):c.2524G>A (p.Asp842Asn)
NM_014112.5(TRPS1):c.2534A>G (p.Asn845Ser)
NM_014112.5(TRPS1):c.2559A>C (p.Arg853=)
NM_014112.5(TRPS1):c.2563A>T (p.Ile855Phe)
NM_014112.5(TRPS1):c.2586C>G (p.Thr862=) rs1586430909
NM_014112.5(TRPS1):c.2616C>A (p.Gly872=)
NM_014112.5(TRPS1):c.2634C>T (p.Ala878=)
NM_014112.5(TRPS1):c.2657C>T (p.Ser886Leu)
NM_014112.5(TRPS1):c.2701-15T>C
NM_014112.5(TRPS1):c.2701-20G>T
NM_014112.5(TRPS1):c.2778C>T (p.Gly926=)
NM_014112.5(TRPS1):c.2781A>T (p.Gly927=)
NM_014112.5(TRPS1):c.2823+15C>T rs201296334
NM_014112.5(TRPS1):c.2823+19del rs2129768290
NM_014112.5(TRPS1):c.2824-18T>C
NM_014112.5(TRPS1):c.2824-6C>T
NM_014112.5(TRPS1):c.2849A>G (p.Lys950Arg)
NM_014112.5(TRPS1):c.2895C>A (p.Arg965=)
NM_014112.5(TRPS1):c.2919T>C (p.Ala973=)
NM_014112.5(TRPS1):c.294C>T (p.Gly98=)
NM_014112.5(TRPS1):c.3008A>G (p.Glu1003Gly)
NM_014112.5(TRPS1):c.3067T>C (p.Leu1023=)
NM_014112.5(TRPS1):c.3187G>A (p.Gly1063Arg)
NM_014112.5(TRPS1):c.3201C>T (p.Ser1067=)
NM_014112.5(TRPS1):c.3264G>A (p.Ala1088=)
NM_014112.5(TRPS1):c.3275A>G (p.Asn1092Ser)
NM_014112.5(TRPS1):c.3333C>G (p.Pro1111=)
NM_014112.5(TRPS1):c.3390T>C (p.Tyr1130=)
NM_014112.5(TRPS1):c.3413C>T (p.Pro1138Leu)
NM_014112.5(TRPS1):c.3429C>T (p.His1143=)
NM_014112.5(TRPS1):c.342G>T (p.Pro114=)
NM_014112.5(TRPS1):c.3439C>T (p.Leu1147=)
NM_014112.5(TRPS1):c.3486G>A (p.Leu1162=)
NM_014112.5(TRPS1):c.3513A>G (p.Ser1171=)
NM_014112.5(TRPS1):c.3540G>A (p.Ala1180=) rs764387571
NM_014112.5(TRPS1):c.3540G>C (p.Ala1180=)
NM_014112.5(TRPS1):c.3561G>A (p.Gly1187=) rs2129746732
NM_014112.5(TRPS1):c.3573C>T (p.Asn1191=) rs375082372
NM_014112.5(TRPS1):c.3574G>A (p.Gly1192Ser)
NM_014112.5(TRPS1):c.3579C>G (p.Ala1193=)
NM_014112.5(TRPS1):c.3612A>G (p.Val1204=)
NM_014112.5(TRPS1):c.3621A>G (p.Glu1207=)
NM_014112.5(TRPS1):c.3627C>G (p.Pro1209=)
NM_014112.5(TRPS1):c.3667C>G (p.Gln1223Glu)
NM_014112.5(TRPS1):c.3669A>G (p.Gln1223=)
NM_014112.5(TRPS1):c.3756C>T (p.Asp1252=)
NM_014112.5(TRPS1):c.3798G>A (p.Thr1266=)
NM_014112.5(TRPS1):c.3852A>G (p.Ala1284=)
NM_014112.5(TRPS1):c.391G>T (p.Ala131Ser)
NM_014112.5(TRPS1):c.408G>A (p.Glu136=)
NM_014112.5(TRPS1):c.414G>A (p.Leu138=)
NM_014112.5(TRPS1):c.426A>G (p.Gln142=)
NM_014112.5(TRPS1):c.462C>T (p.Cys154=) rs1419381053
NM_014112.5(TRPS1):c.468C>T (p.Pro156=)
NM_014112.5(TRPS1):c.471A>C (p.Ser157=) rs780661100
NM_014112.5(TRPS1):c.496G>A (p.Asp166Asn)
NM_014112.5(TRPS1):c.525G>A (p.Glu175=) rs2130532256
NM_014112.5(TRPS1):c.570G>A (p.Leu190=)
NM_014112.5(TRPS1):c.603A>G (p.Gln201=) rs756604086
NM_014112.5(TRPS1):c.675G>C (p.Pro225=) rs757893991
NM_014112.5(TRPS1):c.72C>T (p.Asn24=)
NM_014112.5(TRPS1):c.735C>T (p.Tyr245=)
NM_014112.5(TRPS1):c.73G>A (p.Val25Ile)
NM_014112.5(TRPS1):c.900T>C (p.Phe300=)
NM_014112.5(TRPS1):c.993C>T (p.Gly331=)
NM_017838.4(NHP2):c.132G>A (p.Thr44=) rs764657822
NM_017838.4(NHP2):c.15G>A (p.Lys5=)
NM_017838.4(NHP2):c.160+10A>C rs376220034
NM_017838.4(NHP2):c.160+10A>G rs376220034
NM_017838.4(NHP2):c.160+10A>T rs376220034
NM_017838.4(NHP2):c.160+11C>A rs201274409
NM_017838.4(NHP2):c.160+11C>G rs201274409
NM_017838.4(NHP2):c.160+12G>A
NM_017838.4(NHP2):c.160+13G>A rs2113476424
NM_017838.4(NHP2):c.160+14C>A
NM_017838.4(NHP2):c.160+16G>A
NM_017838.4(NHP2):c.160+7C>T
NM_017838.4(NHP2):c.160+9del
NM_017838.4(NHP2):c.161-15C>G rs774227396
NM_017838.4(NHP2):c.161-17C>T
NM_017838.4(NHP2):c.161-4G>A
NM_017838.4(NHP2):c.161-5T>G
NM_017838.4(NHP2):c.161-7G>A
NM_017838.4(NHP2):c.161-8C>T
NM_017838.4(NHP2):c.162G>C (p.Ala54=)
NM_017838.4(NHP2):c.186C>G (p.Arg62=)
NM_017838.4(NHP2):c.18A>G (p.Ala6=)
NM_017838.4(NHP2):c.210T>C (p.Phe70=)
NM_017838.4(NHP2):c.213C>G (p.Val71=) rs575702154
NM_017838.4(NHP2):c.230+13C>A
NM_017838.4(NHP2):c.230+13C>T rs1561645171
NM_017838.4(NHP2):c.230+16C>T
NM_017838.4(NHP2):c.230+8C>A rs764940566
NM_017838.4(NHP2):c.230+9C>A
NM_017838.4(NHP2):c.231-13TC[2]
NM_017838.4(NHP2):c.231-20dup
NM_017838.4(NHP2):c.24C>G (p.Pro8=)
NM_017838.4(NHP2):c.267G>A (p.Glu89=)
NM_017838.4(NHP2):c.27C>T (p.Asp9=) rs1178370439
NM_017838.4(NHP2):c.324C>T (p.Ile108=)
NM_017838.4(NHP2):c.336+11C>T
NM_017838.4(NHP2):c.336+18C>T
NM_017838.4(NHP2):c.336+20_336+21del
NM_017838.4(NHP2):c.337-11C>T rs1028921372
NM_017838.4(NHP2):c.337-15C>T
NM_017838.4(NHP2):c.337-18C>T
NM_017838.4(NHP2):c.339C>T (p.Asp113=)
NM_017838.4(NHP2):c.33C>G (p.Pro11=)
NM_017838.4(NHP2):c.366C>G (p.Arg122=) rs2113463130
NM_017838.4(NHP2):c.378G>A (p.Val126=) rs1756216301
NM_017838.4(NHP2):c.447G>A (p.Leu149=) rs754228756
NM_017838.4(NHP2):c.456C>A (p.Pro152=)
NM_017838.4(NHP2):c.45G>A (p.Ala15=)
NM_017838.4(NHP2):c.60G>C (p.Gly20=)
NM_018648.4(NOP10):c.150A>G (p.Lys50=) rs562412129
NM_018648.4(NOP10):c.165C>T (p.Leu55=) rs1338953300
NM_018648.4(NOP10):c.27G>A (p.Glu9=)
NM_018648.4(NOP10):c.42C>A (p.Val14=)
NM_018648.4(NOP10):c.54+10G>C
NM_018648.4(NOP10):c.54+16_54+17del
NM_018648.4(NOP10):c.54+19_54+29del
NM_018648.4(NOP10):c.54+19del rs2141230426
NM_018648.4(NOP10):c.55-10C>T
NM_018648.4(NOP10):c.75A>G (p.Gln25=)
NM_020529.3(NFKBIA):c.129G>A (p.Glu43=) rs2052768071
NM_020529.3(NFKBIA):c.12G>A (p.Ala4=)
NM_020529.3(NFKBIA):c.145C>T (p.Leu49=)
NM_020529.3(NFKBIA):c.147G>A (p.Leu49=)
NM_020529.3(NFKBIA):c.186C>A (p.Gly62=) rs143798499
NM_020529.3(NFKBIA):c.18G>A (p.Glu6=)
NM_020529.3(NFKBIA):c.192G>A (p.Glu64=)
NM_020529.3(NFKBIA):c.216G>A (p.Glu72=) rs1025896637
NM_020529.3(NFKBIA):c.221G>C (p.Gly74Ala) rs763076696
NM_020529.3(NFKBIA):c.222G>A (p.Gly74=)
NM_020529.3(NFKBIA):c.227+13G>A
NM_020529.3(NFKBIA):c.227+17C>T
NM_020529.3(NFKBIA):c.227+19G>A
NM_020529.3(NFKBIA):c.227+20G>A
NM_020529.3(NFKBIA):c.228-15dup
NM_020529.3(NFKBIA):c.228-24_228-18dup
NM_020529.3(NFKBIA):c.228-4A>G
NM_020529.3(NFKBIA):c.228-8C>A
NM_020529.3(NFKBIA):c.231C>T (p.Phe77=)
NM_020529.3(NFKBIA):c.240G>A (p.Leu80=) rs2138832918
NM_020529.3(NFKBIA):c.252T>C (p.His84=)
NM_020529.3(NFKBIA):c.270C>T (p.Thr90=) rs780297815
NM_020529.3(NFKBIA):c.27G>A (p.Gln9=)
NM_020529.3(NFKBIA):c.282C>T (p.Ile94=)
NM_020529.3(NFKBIA):c.2T>C (p.Met1Thr)
NM_020529.3(NFKBIA):c.30G>A (p.Glu10=) rs2138834404
NM_020529.3(NFKBIA):c.315C>T (p.Asn105=)
NM_020529.3(NFKBIA):c.328C>T (p.Leu110=) rs776007975
NM_020529.3(NFKBIA):c.336+12G>T
NM_020529.3(NFKBIA):c.336+18C>T
NM_020529.3(NFKBIA):c.336+20C>G
NM_020529.3(NFKBIA):c.336+7C>T
NM_020529.3(NFKBIA):c.336+7del
NM_020529.3(NFKBIA):c.336+9C>T
NM_020529.3(NFKBIA):c.337-13C>G
NM_020529.3(NFKBIA):c.337-17C>G
NM_020529.3(NFKBIA):c.337-9C>A
NM_020529.3(NFKBIA):c.345C>G (p.Leu115=) rs2138832179
NM_020529.3(NFKBIA):c.391C>T (p.Leu131=)
NM_020529.3(NFKBIA):c.403T>G (p.Cys135Gly) rs2138832069
NM_020529.3(NFKBIA):c.441C>G (p.Pro147=)
NM_020529.3(NFKBIA):c.45C>T (p.Gly15=) rs2138834371
NM_020529.3(NFKBIA):c.477C>T (p.Ser159=) rs199877737
NM_020529.3(NFKBIA):c.487C>T (p.Leu163=) rs2052747548
NM_020529.3(NFKBIA):c.506C>T (p.Thr169Ile)
NM_020529.3(NFKBIA):c.509C>T (p.Pro170Leu)
NM_020529.3(NFKBIA):c.51C>T (p.Arg17=)
NM_020529.3(NFKBIA):c.526C>T (p.Leu176=)
NM_020529.3(NFKBIA):c.547+11C>T
NM_020529.3(NFKBIA):c.547+9G>A rs758955844
NM_020529.3(NFKBIA):c.547+9G>C
NM_020529.3(NFKBIA):c.548-17T>C rs2138831292
NM_020529.3(NFKBIA):c.548-5T>C rs2138831281
NM_020529.3(NFKBIA):c.54C>T (p.Asp18=)
NM_020529.3(NFKBIA):c.555G>A (p.Thr185=)
NM_020529.3(NFKBIA):c.565T>C (p.Leu189=)
NM_020529.3(NFKBIA):c.570C>T (p.Ala190=)
NM_020529.3(NFKBIA):c.585C>T (p.Tyr195=) rs1300120545
NM_020529.3(NFKBIA):c.594C>T (p.Ile198=)
NM_020529.3(NFKBIA):c.607G>A (p.Val203Met)
NM_020529.3(NFKBIA):c.612C>T (p.Ser204=)
NM_020529.3(NFKBIA):c.61AAG[1] (p.Lys22del) rs760942646
NM_020529.3(NFKBIA):c.636+15C>T
NM_020529.3(NFKBIA):c.636+20G>A rs368603759
NM_020529.3(NFKBIA):c.637-14C>T
NM_020529.3(NFKBIA):c.660C>T (p.Ala220=)
NM_020529.3(NFKBIA):c.669C>T (p.Leu223=) rs143869405
NM_020529.3(NFKBIA):c.672A>C (p.Ala224=)
NM_020529.3(NFKBIA):c.684A>G (p.Gln228=)
NM_020529.3(NFKBIA):c.685A>G (p.Asn229Asp)
NM_020529.3(NFKBIA):c.705C>T (p.Leu235=) rs760478586
NM_020529.3(NFKBIA):c.705_706insA (p.Leu236fs)
NM_020529.3(NFKBIA):c.720G>A (p.Gly240=)
NM_020529.3(NFKBIA):c.732C>T (p.Asn244=)
NM_020529.3(NFKBIA):c.741C>G (p.Thr247=)
NM_020529.3(NFKBIA):c.750C>G (p.Gly250=)
NM_020529.3(NFKBIA):c.792G>A (p.Arg264=) rs2138830550
NM_020529.3(NFKBIA):c.792G>C (p.Arg264=)
NM_020529.3(NFKBIA):c.822A>G (p.Leu274=)
NM_020529.3(NFKBIA):c.861G>A (p.Glu287=)
NM_020529.3(NFKBIA):c.862A>G (p.Ser288Gly)
NM_020529.3(NFKBIA):c.906+14_906+15insG
NM_020529.3(NFKBIA):c.906+16C>A rs1019323420
NM_020529.3(NFKBIA):c.906+16C>T
NM_020529.3(NFKBIA):c.907-6T>C
NM_020529.3(NFKBIA):c.912C>A (p.Pro304=)
NM_020529.3(NFKBIA):c.912C>G (p.Pro304=)
NM_020529.3(NFKBIA):c.927G>C (p.Val309=)
NM_020529.3(NFKBIA):c.940C>T (p.Arg314Cys) rs753419932
NM_020779.4(WDR35):c.1008+10A>C rs2103448400
NM_020779.4(WDR35):c.1008+13A>G
NM_020779.4(WDR35):c.105T>C (p.Asp35=)
NM_020779.4(WDR35):c.1101A>G (p.Glu367=)
NM_020779.4(WDR35):c.1140T>C (p.Thr380=) rs202056608
NM_020779.4(WDR35):c.1194+10T>C rs936831337
NM_020779.4(WDR35):c.1194+11C>T
NM_020779.4(WDR35):c.1194+18T>A
NM_020779.4(WDR35):c.1194+18T>G
NM_020779.4(WDR35):c.1302G>A (p.Ser434=)
NM_020779.4(WDR35):c.1354T>C (p.Leu452=)
NM_020779.4(WDR35):c.1371C>T (p.Ile457=)
NM_020779.4(WDR35):c.1400+15A>G
NM_020779.4(WDR35):c.1400+17A>G
NM_020779.4(WDR35):c.1401-11C>A
NM_020779.4(WDR35):c.1401-11C>G
NM_020779.4(WDR35):c.1401-8T>C
NM_020779.4(WDR35):c.142+15G>A
NM_020779.4(WDR35):c.143-7G>A
NM_020779.4(WDR35):c.1471-19A>G rs1671119977
NM_020779.4(WDR35):c.1473C>T (p.Gly491=)
NM_020779.4(WDR35):c.147T>C (p.Asp49=) rs1672416502
NM_020779.4(WDR35):c.1503A>G (p.Ala501=)
NM_020779.4(WDR35):c.1524+11C>T
NM_020779.4(WDR35):c.1525-15A>C rs2103417096
NM_020779.4(WDR35):c.1527T>C (p.Gly509=)
NM_020779.4(WDR35):c.1617C>G (p.Ser539=)
NM_020779.4(WDR35):c.1634+7C>G
NM_020779.4(WDR35):c.1635-19C>T
NM_020779.4(WDR35):c.1674C>T (p.Phe558=)
NM_020779.4(WDR35):c.1698G>A (p.Thr566=) rs773559585
NM_020779.4(WDR35):c.1732T>C (p.Leu578=)
NM_020779.4(WDR35):c.1834T>C (p.Leu612=)
NM_020779.4(WDR35):c.1846-5T>C rs2103410724
NM_020779.4(WDR35):c.1860C>T (p.Thr620=) rs1572333836
NM_020779.4(WDR35):c.1950T>C (p.Asp650=) rs2103406174
NM_020779.4(WDR35):c.2013A>C (p.Gly671=) rs2103406014
NM_020779.4(WDR35):c.2063+7A>T
NM_020779.4(WDR35):c.214+13A>G
NM_020779.4(WDR35):c.2154G>A (p.Lys718=) rs2103405404
NM_020779.4(WDR35):c.2178A>G (p.Leu726=)
NM_020779.4(WDR35):c.2190A>G (p.Ser730=)
NM_020779.4(WDR35):c.2202T>C (p.Ala734=)
NM_020779.4(WDR35):c.2247G>A (p.Thr749=)
NM_020779.4(WDR35):c.2247G>T (p.Thr749=)
NM_020779.4(WDR35):c.2253C>T (p.Leu751=)
NM_020779.4(WDR35):c.2267+15C>T rs1374046467
NM_020779.4(WDR35):c.2267+16G>A
NM_020779.4(WDR35):c.2268-29AATG[5]
NM_020779.4(WDR35):c.2385T>C (p.Ile795=)
NM_020779.4(WDR35):c.2415-4G>A
NM_020779.4(WDR35):c.2430A>G (p.Gln810=)
NM_020779.4(WDR35):c.2446C>A (p.Arg816=) rs374027943
NM_020779.4(WDR35):c.25-10G>C
NM_020779.4(WDR35):c.25-17T>C
NM_020779.4(WDR35):c.2520A>G (p.Ser840=)
NM_020779.4(WDR35):c.2523T>C (p.Leu841=)
NM_020779.4(WDR35):c.2538G>A (p.Lys846=)
NM_020779.4(WDR35):c.2547+13A>C
NM_020779.4(WDR35):c.2547+9T>C
NM_020779.4(WDR35):c.2568C>T (p.Val856=)
NM_020779.4(WDR35):c.2622A>C (p.Pro874=) rs766138190
NM_020779.4(WDR35):c.2646A>G (p.Val882=)
NM_020779.4(WDR35):c.2658+13A>C
NM_020779.4(WDR35):c.2658+14C>T
NM_020779.4(WDR35):c.2659-13A>T
NM_020779.4(WDR35):c.273A>G (p.Glu91=) rs1558360162
NM_020779.4(WDR35):c.2760T>A (p.Leu920=) rs1405610639
NM_020779.4(WDR35):c.2838G>A (p.Glu946=)
NM_020779.4(WDR35):c.2844G>A (p.Lys948=)
NM_020779.4(WDR35):c.2856A>G (p.Lys952=) rs755843830
NM_020779.4(WDR35):c.288T>C (p.Ile96=)
NM_020779.4(WDR35):c.2913T>C (p.His971=) rs561223092
NM_020779.4(WDR35):c.2935C>A (p.Arg979=)
NM_020779.4(WDR35):c.2964+13G>A rs557213514
NM_020779.4(WDR35):c.2964+14T>A
NM_020779.4(WDR35):c.2965-20T>C
NM_020779.4(WDR35):c.2965-5C>T
NM_020779.4(WDR35):c.2994A>G (p.Glu998=) rs2103396034
NM_020779.4(WDR35):c.3003T>A (p.Val1001=)
NM_020779.4(WDR35):c.3036A>C (p.Ala1012=)
NM_020779.4(WDR35):c.3075A>C (p.Ala1025=)
NM_020779.4(WDR35):c.30C>T (p.Ser10=) rs1672670437
NM_020779.4(WDR35):c.3121+10T>C
NM_020779.4(WDR35):c.3122-16G>C
NM_020779.4(WDR35):c.3132G>A (p.Leu1044=)
NM_020779.4(WDR35):c.3162G>A (p.Val1054=) rs2103378366
NM_020779.4(WDR35):c.3198C>G (p.Ala1066=)
NM_020779.4(WDR35):c.3213G>A (p.Gly1071=)
NM_020779.4(WDR35):c.3267A>G (p.Glu1089=)
NM_020779.4(WDR35):c.333C>T (p.Asn111=)
NM_020779.4(WDR35):c.3363-10C>T
NM_020779.4(WDR35):c.3363-11C>A rs2103377636
NM_020779.4(WDR35):c.3388G>A (p.Val1130Ile)
NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)
NM_020779.4(WDR35):c.3432C>T (p.Cys1144=)
NM_020779.4(WDR35):c.3447C>T (p.His1149=)
NM_020779.4(WDR35):c.399A>G (p.Val133=)
NM_020779.4(WDR35):c.402T>C (p.Tyr134=)
NM_020779.4(WDR35):c.436+18C>T
NM_020779.4(WDR35):c.437-15_437-13del
NM_020779.4(WDR35):c.489A>G (p.Thr163=)
NM_020779.4(WDR35):c.498G>A (p.Ala166=)
NM_020779.4(WDR35):c.570+20A>G
NM_020779.4(WDR35):c.570+7_570+10del
NM_020779.4(WDR35):c.571-16A>G
NM_020779.4(WDR35):c.571-3del
NM_020779.4(WDR35):c.732C>T (p.Asp244=)
NM_020779.4(WDR35):c.81G>A (p.Gly27=) rs1303835293
NM_020779.4(WDR35):c.837G>A (p.Gln279=)
NM_020779.4(WDR35):c.842A>C (p.Lys281Thr)
NM_020779.4(WDR35):c.873G>A (p.Pro291=)
NM_020779.4(WDR35):c.882+10T>A
NM_020779.4(WDR35):c.883-12T>G rs1393592663
NM_020779.4(WDR35):c.883-14A>T
NM_020779.4(WDR35):c.90A>G (p.Ala30=)
NM_020779.4(WDR35):c.946C>T (p.Leu316=) rs1671968631
NM_022336.4(EDAR):c.1017C>A (p.Val339=) rs201434694
NM_022336.4(EDAR):c.1017C>T (p.Val339=) rs201434694
NM_022336.4(EDAR):c.1025-14A>G
NM_022336.4(EDAR):c.102C>T (p.Asn34=)
NM_022336.4(EDAR):c.1037C>T (p.Thr346Met)
NM_022336.4(EDAR):c.1128C>T (p.His376=)
NM_022336.4(EDAR):c.146C>T (p.Pro49Leu) rs375891208
NM_022336.4(EDAR):c.219C>G (p.Pro73=)
NM_022336.4(EDAR):c.360C>T (p.Tyr120=) rs1574381304
NM_022336.4(EDAR):c.656-16C>A
NM_022336.4(EDAR):c.78G>A (p.Ala26=)
NM_022336.4(EDAR):c.804-17C>T
NM_022336.4(EDAR):c.850G>A (p.Val284Ile)
NM_022336.4(EDAR):c.913C>T (p.Leu305=)
NM_022336.4(EDAR):c.922C>T (p.Leu308=)
NM_022336.4(EDAR):c.964-16C>T
NM_022336.4(EDAR):c.96T>C (p.Gly32=)
NM_022836.4(DCLRE1B):c.111C>A (p.Thr37=) rs757534089
NM_022836.4(DCLRE1B):c.1342A>C (p.Arg448=) rs1669276096
NM_022836.4(DCLRE1B):c.1368C>T (p.Pro456=) rs2101075850
NM_022836.4(DCLRE1B):c.519A>G (p.Pro173=) rs1669111834
NM_022836.4(DCLRE1B):c.646C>T (p.Leu216=) rs2101074559
NM_022836.4(DCLRE1B):c.753G>C (p.Thr251=) rs574323645
NM_022836.4(DCLRE1B):c.840C>G (p.Ser280=) rs532282272
NM_022836.4(DCLRE1B):c.840C>T (p.Ser280=) rs532282272
NM_024589.3(ROGDI):c.102G>C (p.Leu34=) rs758967613
NM_024589.3(ROGDI):c.111C>T (p.Ile37=)
NM_024589.3(ROGDI):c.114C>G (p.Leu38=) rs2082742435
NM_024589.3(ROGDI):c.117+11G>T
NM_024589.3(ROGDI):c.117+16C>T
NM_024589.3(ROGDI):c.117+7A>G rs1394907212
NM_024589.3(ROGDI):c.117+9C>T
NM_024589.3(ROGDI):c.118-13C>T
NM_024589.3(ROGDI):c.118-14C>T
NM_024589.3(ROGDI):c.118-20T>C
NM_024589.3(ROGDI):c.118-6C>G
NM_024589.3(ROGDI):c.118-9G>C rs2082720201
NM_024589.3(ROGDI):c.127C>T (p.Leu43=)
NM_024589.3(ROGDI):c.132C>G (p.Arg44=)
NM_024589.3(ROGDI):c.139C>T (p.Leu47=) rs199731766
NM_024589.3(ROGDI):c.150C>T (p.Ser50=) rs781477170
NM_024589.3(ROGDI):c.156T>C (p.Thr52=)
NM_024589.3(ROGDI):c.162G>C (p.Gly54=) rs1596278606
NM_024589.3(ROGDI):c.165C>G (p.Pro55=) rs1455879564
NM_024589.3(ROGDI):c.180C>T (p.Asn60=) rs766718622
NM_024589.3(ROGDI):c.18A>G (p.Ala6=)
NM_024589.3(ROGDI):c.200+11G>A
NM_024589.3(ROGDI):c.200+19G>C
NM_024589.3(ROGDI):c.201-17G>A
NM_024589.3(ROGDI):c.201-19C>G rs746119583
NM_024589.3(ROGDI):c.201-9A>G
NM_024589.3(ROGDI):c.207C>T (p.Asp69=) rs977378578
NM_024589.3(ROGDI):c.222G>C (p.Val74=)
NM_024589.3(ROGDI):c.228T>G (p.Thr76=)
NM_024589.3(ROGDI):c.229C>T (p.Leu77=) rs1384593950
NM_024589.3(ROGDI):c.231G>T (p.Leu77=)
NM_024589.3(ROGDI):c.237G>A (p.Gly79=) rs771193385
NM_024589.3(ROGDI):c.237G>C (p.Gly79=)
NM_024589.3(ROGDI):c.255+12G>A
NM_024589.3(ROGDI):c.255+12G>C
NM_024589.3(ROGDI):c.255+13G>T
NM_024589.3(ROGDI):c.255+13del rs2141911852
NM_024589.3(ROGDI):c.255+20C>G
NM_024589.3(ROGDI):c.255+20C>T
NM_024589.3(ROGDI):c.255+7_255+11dup rs1235158317
NM_024589.3(ROGDI):c.255+8C>A rs372649944
NM_024589.3(ROGDI):c.256-11T>C
NM_024589.3(ROGDI):c.256-16C>G
NM_024589.3(ROGDI):c.256-17C>A
NM_024589.3(ROGDI):c.256-29_256-13dup
NM_024589.3(ROGDI):c.256-7C>T rs374098348
NM_024589.3(ROGDI):c.261G>C (p.Val87=)
NM_024589.3(ROGDI):c.276C>G (p.Pro92=) rs376597130
NM_024589.3(ROGDI):c.276C>T (p.Pro92=) rs376597130
NM_024589.3(ROGDI):c.279G>C (p.Arg93=)
NM_024589.3(ROGDI):c.27G>A (p.Ala9=)
NM_024589.3(ROGDI):c.300C>T (p.Phe100=)
NM_024589.3(ROGDI):c.309G>A (p.Arg103=)
NM_024589.3(ROGDI):c.309G>C (p.Arg103=)
NM_024589.3(ROGDI):c.336+12C>T
NM_024589.3(ROGDI):c.336+13C>G
NM_024589.3(ROGDI):c.336+13C>T
NM_024589.3(ROGDI):c.336+19G>T rs941485363
NM_024589.3(ROGDI):c.336+8C>A
NM_024589.3(ROGDI):c.337-11C>A
NM_024589.3(ROGDI):c.337-15G>T
NM_024589.3(ROGDI):c.337-7C>G rs1596276645
NM_024589.3(ROGDI):c.348C>A (p.Ala116=) rs148870636
NM_024589.3(ROGDI):c.34C>A (p.Arg12=)
NM_024589.3(ROGDI):c.357T>C (p.His119=) rs2082694921
NM_024589.3(ROGDI):c.360G>A (p.Val120=) rs2141909392
NM_024589.3(ROGDI):c.36G>C (p.Arg12=) rs1034942616
NM_024589.3(ROGDI):c.432+11C>G
NM_024589.3(ROGDI):c.432+11C>T
NM_024589.3(ROGDI):c.432+12C>A
NM_024589.3(ROGDI):c.432+16G>A rs979625188
NM_024589.3(ROGDI):c.432+8G>A rs538455657
NM_024589.3(ROGDI):c.433-13C>T
NM_024589.3(ROGDI):c.433-18C>T
NM_024589.3(ROGDI):c.433-8C>T
NM_024589.3(ROGDI):c.435G>A (p.Leu145=) rs1052275164
NM_024589.3(ROGDI):c.45+11C>G rs1402877289
NM_024589.3(ROGDI):c.45+12G>A rs2082746531
NM_024589.3(ROGDI):c.45+14G>A
NM_024589.3(ROGDI):c.45+17A>G
NM_024589.3(ROGDI):c.45+9C>T
NM_024589.3(ROGDI):c.453G>C (p.Leu151=) rs2082683229
NM_024589.3(ROGDI):c.46-13G>T rs1283060910
NM_024589.3(ROGDI):c.46-14G>C
NM_024589.3(ROGDI):c.46-14G>T rs776356340
NM_024589.3(ROGDI):c.46-15G>A
NM_024589.3(ROGDI):c.46-18G>T
NM_024589.3(ROGDI):c.46-20C>T rs1356575308
NM_024589.3(ROGDI):c.46-27_46-18dup
NM_024589.3(ROGDI):c.46-4G>T rs775523259
NM_024589.3(ROGDI):c.46-6C>T rs1185670210
NM_024589.3(ROGDI):c.46-7C>T
NM_024589.3(ROGDI):c.480C>T (p.Leu160=) rs1425221368
NM_024589.3(ROGDI):c.486C>T (p.Thr162=)
NM_024589.3(ROGDI):c.492C>T (p.Ala164=)
NM_024589.3(ROGDI):c.513C>T (p.Ile171=) rs774067328
NM_024589.3(ROGDI):c.525C>T (p.Gly175=)
NM_024589.3(ROGDI):c.528C>A (p.Leu176=)
NM_024589.3(ROGDI):c.531+11C>T
NM_024589.3(ROGDI):c.531+14C>T
NM_024589.3(ROGDI):c.531+15_531+24del rs1239705757
NM_024589.3(ROGDI):c.532-11G>A
NM_024589.3(ROGDI):c.532-17C>T rs1192772817
NM_024589.3(ROGDI):c.534G>A (p.Arg178=) rs2141906632
NM_024589.3(ROGDI):c.555G>A (p.Pro185=) rs771793763
NM_024589.3(ROGDI):c.558C>T (p.Ser186=) rs575384175
NM_024589.3(ROGDI):c.561C>T (p.Asp187=) rs921046328
NM_024589.3(ROGDI):c.562C>T (p.Leu188=)
NM_024589.3(ROGDI):c.570C>G (p.Val190=)
NM_024589.3(ROGDI):c.570C>T (p.Val190=) rs769206337
NM_024589.3(ROGDI):c.588C>G (p.Leu196=) rs766970849
NM_024589.3(ROGDI):c.597C>T (p.Leu199=)
NM_024589.3(ROGDI):c.60C>A (p.Arg20=) rs1324673983
NM_024589.3(ROGDI):c.60C>T (p.Arg20=)
NM_024589.3(ROGDI):c.612C>T (p.Tyr204=) rs1555491054
NM_024589.3(ROGDI):c.616C>T (p.Leu206=)
NM_024589.3(ROGDI):c.625C>T (p.Leu209=) rs144866271
NM_024589.3(ROGDI):c.645+12C>T
NM_024589.3(ROGDI):c.645+13C>T
NM_024589.3(ROGDI):c.645+14C>T
NM_024589.3(ROGDI):c.645+15C>T
NM_024589.3(ROGDI):c.645+20C>T
NM_024589.3(ROGDI):c.645+7_645+9del
NM_024589.3(ROGDI):c.645+8G>A rs1596274925
NM_024589.3(ROGDI):c.646-16G>T
NM_024589.3(ROGDI):c.646-19C>G rs761021735
NM_024589.3(ROGDI):c.646-9T>C
NM_024589.3(ROGDI):c.660T>G (p.Ala220=)
NM_024589.3(ROGDI):c.66G>A (p.Leu22=) rs1452732971
NM_024589.3(ROGDI):c.675G>C (p.Leu225=) rs752089137
NM_024589.3(ROGDI):c.681C>T (p.Ser227=) rs2082673176
NM_024589.3(ROGDI):c.687G>T (p.Gly229=)
NM_024589.3(ROGDI):c.695+13G>A
NM_024589.3(ROGDI):c.695+15G>A rs372447369
NM_024589.3(ROGDI):c.695+17G>A
NM_024589.3(ROGDI):c.695+17G>C
NM_024589.3(ROGDI):c.695+17G>T
NM_024589.3(ROGDI):c.695+7A>G rs1555490999
NM_024589.3(ROGDI):c.695+9G>A
NM_024589.3(ROGDI):c.696-10C>T
NM_024589.3(ROGDI):c.696-15T>G rs1567597183
NM_024589.3(ROGDI):c.696-18C>A
NM_024589.3(ROGDI):c.696-20G>A
NM_024589.3(ROGDI):c.696-26_696-14del rs1336885108
NM_024589.3(ROGDI):c.696-5C>T rs2141905536
NM_024589.3(ROGDI):c.714C>A (p.Arg238=) rs767322805
NM_024589.3(ROGDI):c.735C>T (p.His245=)
NM_024589.3(ROGDI):c.741G>T (p.Val247=) rs2082670478
NM_024589.3(ROGDI):c.75C>T (p.Asp25=)
NM_024589.3(ROGDI):c.762C>A (p.Leu254=)
NM_024589.3(ROGDI):c.771C>T (p.Ala257=)
NM_024589.3(ROGDI):c.774G>A (p.Leu258=) rs1253408885
NM_024589.3(ROGDI):c.774G>C (p.Leu258=) rs1253408885
NM_024589.3(ROGDI):c.777C>T (p.Val259=) rs372599256
NM_024589.3(ROGDI):c.786C>T (p.Thr262=) rs146812127
NM_024589.3(ROGDI):c.789C>A (p.Val263=)
NM_024589.3(ROGDI):c.78G>A (p.Glu26=) rs145718534
NM_024589.3(ROGDI):c.801C>G (p.Leu267=)
NM_024589.3(ROGDI):c.801C>T (p.Leu267=) rs752844190
NM_024589.3(ROGDI):c.822+13C>G
NM_024589.3(ROGDI):c.822+13C>T
NM_024589.3(ROGDI):c.822+14G>T
NM_024589.3(ROGDI):c.822+19C>T
NM_024589.3(ROGDI):c.823-14C>T rs201283169
NM_024589.3(ROGDI):c.823-19G>A
NM_024589.3(ROGDI):c.823-19G>C
NM_024589.3(ROGDI):c.823-20A>G
NM_024589.3(ROGDI):c.823-9C>T
NM_024589.3(ROGDI):c.825C>A (p.Ile275=) rs752311951
NM_024589.3(ROGDI):c.825C>T (p.Ile275=) rs752311951
NM_024589.3(ROGDI):c.831G>A (p.Val277=)
NM_024589.3(ROGDI):c.837C>A (p.Ser279=) rs762201577
NM_024589.3(ROGDI):c.852C>T (p.Tyr284=)
NM_024589.3(ROGDI):c.858C>G (p.Pro286=) rs536893774
NM_024589.3(ROGDI):c.96G>A (p.Lys32=)
NM_024589.3(ROGDI):c.9C>T (p.Thr3=)
NM_025099.6(CTC1):c.1011C>T (p.Pro337=)
NM_025099.6(CTC1):c.1026C>T (p.Asp342=)
NM_025099.6(CTC1):c.1066C>T (p.Leu356=) rs1244119231
NM_025099.6(CTC1):c.1077+19C>T
NM_025099.6(CTC1):c.1078-16C>G
NM_025099.6(CTC1):c.1078-18A>G
NM_025099.6(CTC1):c.1078-4G>A rs375114652
NM_025099.6(CTC1):c.1078-4G>T rs375114652
NM_025099.6(CTC1):c.1078-8G>A
NM_025099.6(CTC1):c.108C>T (p.Val36=) rs2151546050
NM_025099.6(CTC1):c.1135C>T (p.Leu379=) rs1597385203
NM_025099.6(CTC1):c.1161G>A (p.Gln387=)
NM_025099.6(CTC1):c.1173T>C (p.Leu391=)
NM_025099.6(CTC1):c.1197G>A (p.Val399=)
NM_025099.6(CTC1):c.1206+13A>G
NM_025099.6(CTC1):c.1206+15G>A
NM_025099.6(CTC1):c.1206+16G>A
NM_025099.6(CTC1):c.1206+19G>A
NM_025099.6(CTC1):c.1242G>C (p.Gly414=)
NM_025099.6(CTC1):c.1245G>C (p.Gly415=) rs1987612163
NM_025099.6(CTC1):c.1263C>T (p.Leu421=) rs536218211
NM_025099.6(CTC1):c.1281C>A (p.Gly427=) rs754774538
NM_025099.6(CTC1):c.12C>A (p.Gly4=)
NM_025099.6(CTC1):c.12C>T (p.Gly4=)
NM_025099.6(CTC1):c.1320G>T (p.Gly440=) rs2151519856
NM_025099.6(CTC1):c.1332C>A (p.Ser444=)
NM_025099.6(CTC1):c.1332C>G (p.Ser444=) rs1987600121
NM_025099.6(CTC1):c.1332C>T (p.Ser444=)
NM_025099.6(CTC1):c.1353C>G (p.Ser451=)
NM_025099.6(CTC1):c.1354C>T (p.Leu452=) rs1987595222
NM_025099.6(CTC1):c.1371G>T (p.Val457=) rs2151519516
NM_025099.6(CTC1):c.1404G>A (p.Leu468=) rs1987588693
NM_025099.6(CTC1):c.1410T>C (p.Ala470=)
NM_025099.6(CTC1):c.1439+17C>T rs1467120986
NM_025099.6(CTC1):c.1439+7A>G rs1987585756
NM_025099.6(CTC1):c.1439+7_1439+9del rs1391648072
NM_025099.6(CTC1):c.1439+8G>A
NM_025099.6(CTC1):c.1439+9G>C
NM_025099.6(CTC1):c.1440-19G>A
NM_025099.6(CTC1):c.1440-20_1440-19del rs1332067370
NM_025099.6(CTC1):c.1461A>G (p.Arg487=)
NM_025099.6(CTC1):c.147C>G (p.Val49=)
NM_025099.6(CTC1):c.1494G>A (p.Gly498=) rs750860792
NM_025099.6(CTC1):c.1504C>T (p.Leu502=)
NM_025099.6(CTC1):c.1509A>G (p.Gly503=) rs2151518608
NM_025099.6(CTC1):c.1539T>C (p.Leu513=) rs2151518499
NM_025099.6(CTC1):c.1548G>T (p.Pro516=)
NM_025099.6(CTC1):c.1557C>T (p.Ser519=)
NM_025099.6(CTC1):c.1564C>A (p.Arg522=) rs199698527
NM_025099.6(CTC1):c.1566G>C (p.Arg522=)
NM_025099.6(CTC1):c.1593G>A (p.Glu531=) rs1407136775
NM_025099.6(CTC1):c.15G>C (p.Arg5=) rs1252023203
NM_025099.6(CTC1):c.1611C>T (p.Leu537=)
NM_025099.6(CTC1):c.1617+13G>A
NM_025099.6(CTC1):c.1617+13G>C
NM_025099.6(CTC1):c.1617+13G>T
NM_025099.6(CTC1):c.1617+7G>C
NM_025099.6(CTC1):c.1618-16C>T
NM_025099.6(CTC1):c.1618-8C>T rs2151517816
NM_025099.6(CTC1):c.1618-9C>T rs2151517821
NM_025099.6(CTC1):c.1626G>A (p.Arg542=)
NM_025099.6(CTC1):c.1638C>T (p.Pro546=) rs2151517678
NM_025099.6(CTC1):c.1644C>G (p.Ser548=)
NM_025099.6(CTC1):c.165G>A (p.Arg55=) rs2151545845
NM_025099.6(CTC1):c.1683T>G (p.Arg561=) rs1285328109
NM_025099.6(CTC1):c.1704C>T (p.Asp568=)
NM_025099.6(CTC1):c.1719G>C (p.Leu573=) rs1282827614
NM_025099.6(CTC1):c.1725C>G (p.Leu575=)
NM_025099.6(CTC1):c.1728G>T (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1764C>T (p.Arg588=)
NM_025099.6(CTC1):c.1789C>T (p.Leu597=)
NM_025099.6(CTC1):c.1797C>T (p.Pro599=) rs2151516939
NM_025099.6(CTC1):c.180A>G (p.Thr60=)
NM_025099.6(CTC1):c.1812A>G (p.Pro604=)
NM_025099.6(CTC1):c.1815C>T (p.Ala605=)
NM_025099.6(CTC1):c.1818+17C>T
NM_025099.6(CTC1):c.1819-12A>T
NM_025099.6(CTC1):c.1819-17C>T
NM_025099.6(CTC1):c.1819-19A>C
NM_025099.6(CTC1):c.1819-21_1819-17del rs2151513134
NM_025099.6(CTC1):c.1819-4G>T
NM_025099.6(CTC1):c.181C>T (p.Leu61=) rs1439520622
NM_025099.6(CTC1):c.1845A>G (p.Ser615=)
NM_025099.6(CTC1):c.1857T>C (p.Gly619=) rs2151512859
NM_025099.6(CTC1):c.1890G>A (p.Leu630=) rs765952322
NM_025099.6(CTC1):c.1890G>C (p.Leu630=)
NM_025099.6(CTC1):c.18C>G (p.Ala6=) rs377706974
NM_025099.6(CTC1):c.1923C>T (p.Pro641=) rs1432613856
NM_025099.6(CTC1):c.1926C>T (p.Leu642=)
NM_025099.6(CTC1):c.1938G>A (p.Arg646=)
NM_025099.6(CTC1):c.1945+10del
NM_025099.6(CTC1):c.1945+19G>A rs2151512377
NM_025099.6(CTC1):c.1946-11T>C rs372245030
NM_025099.6(CTC1):c.1946-17A>G
NM_025099.6(CTC1):c.1946-4C>T
NM_025099.6(CTC1):c.1956G>A (p.Val652=) rs2151511215
NM_025099.6(CTC1):c.197+18T>C
NM_025099.6(CTC1):c.197+8G>A
NM_025099.6(CTC1):c.198-12T>G rs2151532365
NM_025099.6(CTC1):c.198-15C>G
NM_025099.6(CTC1):c.198-17T>C
NM_025099.6(CTC1):c.198-20C>G
NM_025099.6(CTC1):c.198-4A>G rs1597389646
NM_025099.6(CTC1):c.1989G>A (p.Arg663=)
NM_025099.6(CTC1):c.1992C>T (p.Asp664=) rs755004377
NM_025099.6(CTC1):c.2013C>G (p.Ser671=)
NM_025099.6(CTC1):c.2019G>A (p.Lys673=) rs2151510979
NM_025099.6(CTC1):c.201C>T (p.Phe67=) rs552540195
NM_025099.6(CTC1):c.2037C>T (p.Gly679=) rs2151510889
NM_025099.6(CTC1):c.2060+10T>G
NM_025099.6(CTC1):c.2060+12G>A rs1987317835
NM_025099.6(CTC1):c.2060+13G>C
NM_025099.6(CTC1):c.2060+18A>G
NM_025099.6(CTC1):c.2060+9C>A rs2151510790
NM_025099.6(CTC1):c.2061-11T>C
NM_025099.6(CTC1):c.2061-12C>G
NM_025099.6(CTC1):c.2061-14G>T rs774632748
NM_025099.6(CTC1):c.2061-20T>G
NM_025099.6(CTC1):c.2061-5A>G
NM_025099.6(CTC1):c.2097C>T (p.Ile699=)
NM_025099.6(CTC1):c.2100G>C (p.Leu700=)
NM_025099.6(CTC1):c.210A>G (p.Val70=)
NM_025099.6(CTC1):c.2136C>T (p.Pro712=)
NM_025099.6(CTC1):c.2166A>G (p.Pro722=) rs2151509876
NM_025099.6(CTC1):c.2175C>T (p.Pro725=)
NM_025099.6(CTC1):c.2178C>T (p.His726=) rs201146538
NM_025099.6(CTC1):c.2235T>C (p.Asn745=) rs2151509581
NM_025099.6(CTC1):c.2244C>G (p.Val748=) rs758516017
NM_025099.6(CTC1):c.2247C>G (p.Pro749=)
NM_025099.6(CTC1):c.2247C>T (p.Pro749=)
NM_025099.6(CTC1):c.2253A>G (p.Gly751=) rs1164794062
NM_025099.6(CTC1):c.225T>C (p.Thr75=) rs761598220
NM_025099.6(CTC1):c.2280C>T (p.Ala760=)
NM_025099.6(CTC1):c.228C>T (p.His76=) rs531109382
NM_025099.6(CTC1):c.2292T>C (p.Tyr764=)
NM_025099.6(CTC1):c.2310T>G (p.Leu770=)
NM_025099.6(CTC1):c.2322G>A (p.Gln774=)
NM_025099.6(CTC1):c.2346G>T (p.Gly782=)
NM_025099.6(CTC1):c.237C>G (p.Leu79=) rs2151532137
NM_025099.6(CTC1):c.237C>T (p.Leu79=)
NM_025099.6(CTC1):c.2386-16C>T
NM_025099.6(CTC1):c.2386-16del
NM_025099.6(CTC1):c.2386-20T>A rs374816662
NM_025099.6(CTC1):c.2386-20T>C rs374816662
NM_025099.6(CTC1):c.2386-5C>T rs757334155
NM_025099.6(CTC1):c.2391C>T (p.His797=)
NM_025099.6(CTC1):c.2394C>G (p.Leu798=)
NM_025099.6(CTC1):c.2409T>C (p.Ser803=) rs1987252367
NM_025099.6(CTC1):c.2418C>T (p.Arg806=)
NM_025099.6(CTC1):c.2451C>T (p.Tyr817=)
NM_025099.6(CTC1):c.2466T>C (p.Pro822=) rs2151508201
NM_025099.6(CTC1):c.246C>T (p.Cys82=)
NM_025099.6(CTC1):c.2472C>G (p.Pro824=) rs558802130
NM_025099.6(CTC1):c.2475+10C>T
NM_025099.6(CTC1):c.2475+20A>G
NM_025099.6(CTC1):c.2475+9C>A rs781404123
NM_025099.6(CTC1):c.2475+9C>G
NM_025099.6(CTC1):c.2475+9C>T rs781404123
NM_025099.6(CTC1):c.24C>A (p.Val8=) rs749818659
NM_025099.6(CTC1):c.2505A>G (p.Ser835=)
NM_025099.6(CTC1):c.2508C>T (p.Ser836=)
NM_025099.6(CTC1):c.2538T>C (p.Ala846=)
NM_025099.6(CTC1):c.2547A>G (p.Ala849=)
NM_025099.6(CTC1):c.2583G>A (p.Glu861=)
NM_025099.6(CTC1):c.2586T>G (p.Leu862=) rs2151506876
NM_025099.6(CTC1):c.258G>C (p.Ser86=) rs369789111
NM_025099.6(CTC1):c.258G>T (p.Ser86=) rs369789111
NM_025099.6(CTC1):c.2610T>C (p.Asp870=)
NM_025099.6(CTC1):c.2613G>A (p.Val871=)
NM_025099.6(CTC1):c.2619T>C (p.Asp873=) rs2151506753
NM_025099.6(CTC1):c.2631A>G (p.Ser877=) rs1335870783
NM_025099.6(CTC1):c.2661C>T (p.Leu887=)
NM_025099.6(CTC1):c.2669+13C>G
NM_025099.6(CTC1):c.2669+17C>A
NM_025099.6(CTC1):c.2669+18C>T rs769461004
NM_025099.6(CTC1):c.2670-12C>G rs1987142319
NM_025099.6(CTC1):c.2718A>G (p.Thr906=)
NM_025099.6(CTC1):c.2719C>T (p.Leu907=)
NM_025099.6(CTC1):c.273A>G (p.Ala91=)
NM_025099.6(CTC1):c.2742T>C (p.Ser914=) rs1248489024
NM_025099.6(CTC1):c.2758+11T>C
NM_025099.6(CTC1):c.2758+18G>A
NM_025099.6(CTC1):c.2758+7A>T rs2151504452
NM_025099.6(CTC1):c.2759-12T>C
NM_025099.6(CTC1):c.2759-20C>T
NM_025099.6(CTC1):c.2759-4A>G rs374727205
NM_025099.6(CTC1):c.2759-4A>T rs374727205
NM_025099.6(CTC1):c.2799C>T (p.Val933=)
NM_025099.6(CTC1):c.27T>A (p.Pro9=)
NM_025099.6(CTC1):c.27T>C (p.Pro9=) rs2151564261
NM_025099.6(CTC1):c.2802T>C (p.Ala934=)
NM_025099.6(CTC1):c.2811T>G (p.Thr937=)
NM_025099.6(CTC1):c.2826C>T (p.Phe942=)
NM_025099.6(CTC1):c.2836C>T (p.Leu946=)
NM_025099.6(CTC1):c.2847T>C (p.Tyr949=)
NM_025099.6(CTC1):c.2880A>G (p.Gly960=)
NM_025099.6(CTC1):c.288C>T (p.Ala96=)
NM_025099.6(CTC1):c.2898G>A (p.Arg966=)
NM_025099.6(CTC1):c.2910C>T (p.Ser970=)
NM_025099.6(CTC1):c.2914T>C (p.Leu972=)
NM_025099.6(CTC1):c.2933+18C>T
NM_025099.6(CTC1):c.2933+8T>C rs1160513274
NM_025099.6(CTC1):c.2933+9G>A
NM_025099.6(CTC1):c.2934-13C>T
NM_025099.6(CTC1):c.3011+10C>G
NM_025099.6(CTC1):c.3011+19A>G
NM_025099.6(CTC1):c.3011+19del
NM_025099.6(CTC1):c.3012-12G>C
NM_025099.6(CTC1):c.3012-18C>T
NM_025099.6(CTC1):c.3012-20_3012-19del rs372844070
NM_025099.6(CTC1):c.3012-5_3012-2del rs2151500920
NM_025099.6(CTC1):c.3012-7T>C
NM_025099.6(CTC1):c.3024C>T (p.Pro1008=)
NM_025099.6(CTC1):c.3033C>T (p.Tyr1011=)
NM_025099.6(CTC1):c.303A>G (p.Pro101=)
NM_025099.6(CTC1):c.3045T>A (p.Leu1015=)
NM_025099.6(CTC1):c.3066A>G (p.Pro1022=)
NM_025099.6(CTC1):c.3066A>T (p.Pro1022=)
NM_025099.6(CTC1):c.3081C>T (p.Ala1027=)
NM_025099.6(CTC1):c.3108C>T (p.Ser1036=)
NM_025099.6(CTC1):c.3150C>T (p.Cys1050=) rs1310614752
NM_025099.6(CTC1):c.3156+10G>A
NM_025099.6(CTC1):c.3157-14T>C
NM_025099.6(CTC1):c.3157-15C>T
NM_025099.6(CTC1):c.3157-16A>C rs1986997815
NM_025099.6(CTC1):c.3157-7A>T rs2151500127
NM_025099.6(CTC1):c.315C>T (p.Pro105=)
NM_025099.6(CTC1):c.3174G>A (p.Leu1058=) rs1597373933
NM_025099.6(CTC1):c.3192G>A (p.Thr1064=)
NM_025099.6(CTC1):c.3216C>T (p.Ile1072=) rs2151499882
NM_025099.6(CTC1):c.3221+14G>A
NM_025099.6(CTC1):c.3221+15C>T
NM_025099.6(CTC1):c.3221+19C>A rs2151499736
NM_025099.6(CTC1):c.3221+20A>G
NM_025099.6(CTC1):c.3222-10C>G
NM_025099.6(CTC1):c.3222-10C>T
NM_025099.6(CTC1):c.3231G>A (p.Val1077=) rs2151499073
NM_025099.6(CTC1):c.3276T>C (p.His1092=)
NM_025099.6(CTC1):c.33+11C>G
NM_025099.6(CTC1):c.33+13A>G
NM_025099.6(CTC1):c.33+15T>A
NM_025099.6(CTC1):c.33+17C>A
NM_025099.6(CTC1):c.33+18G>T
NM_025099.6(CTC1):c.33+7G>A
NM_025099.6(CTC1):c.33+7G>T rs1179270612
NM_025099.6(CTC1):c.33+9T>C
NM_025099.6(CTC1):c.33+9T>G rs373483074
NM_025099.6(CTC1):c.3303T>C (p.Pro1101=)
NM_025099.6(CTC1):c.3324A>G (p.Leu1108=)
NM_025099.6(CTC1):c.3387+9T>C rs2151498469
NM_025099.6(CTC1):c.3388-11_3388-9del rs1262324249
NM_025099.6(CTC1):c.3388-19C>T
NM_025099.6(CTC1):c.3388-20C>G
NM_025099.6(CTC1):c.3388-22_3388-17del rs780812864
NM_025099.6(CTC1):c.3388-5T>C
NM_025099.6(CTC1):c.3388-7T>C rs752759103
NM_025099.6(CTC1):c.3388-8C>T
NM_025099.6(CTC1):c.34-13T>G
NM_025099.6(CTC1):c.34-6C>T
NM_025099.6(CTC1):c.3405C>T (p.Asp1135=)
NM_025099.6(CTC1):c.3432A>C (p.Thr1144=) rs1285633618
NM_025099.6(CTC1):c.3441T>C (p.Thr1147=)
NM_025099.6(CTC1):c.3447C>T (p.Pro1149=)
NM_025099.6(CTC1):c.3468G>T (p.Val1156=) rs1213104518
NM_025099.6(CTC1):c.3492A>G (p.Lys1164=) rs952574848
NM_025099.6(CTC1):c.3498G>T (p.Ser1166=) rs369209127
NM_025099.6(CTC1):c.3510A>G (p.Pro1170=)
NM_025099.6(CTC1):c.3514+15G>A
NM_025099.6(CTC1):c.3514+16G>C
NM_025099.6(CTC1):c.3514+16G>T
NM_025099.6(CTC1):c.3514+7T>C
NM_025099.6(CTC1):c.3514+8T>G
NM_025099.6(CTC1):c.3515-19T>C rs2151497033
NM_025099.6(CTC1):c.3515-8C>T
NM_025099.6(CTC1):c.3515-8del rs2151496968
NM_025099.6(CTC1):c.3549G>A (p.Glu1183=)
NM_025099.6(CTC1):c.3555T>G (p.Pro1185=) rs755022443
NM_025099.6(CTC1):c.3558C>T (p.Phe1186=)
NM_025099.6(CTC1):c.3576C>G (p.Pro1192=) rs2151496784
NM_025099.6(CTC1):c.3586T>C (p.Leu1196=)
NM_025099.6(CTC1):c.3588G>A (p.Leu1196=)
NM_025099.6(CTC1):c.358C>T (p.Leu120=) rs2151531587
NM_025099.6(CTC1):c.3591C>T (p.Ser1197=) rs115990839
NM_025099.6(CTC1):c.360A>G (p.Leu120=) rs201957649
NM_025099.6(CTC1):c.3612A>G (p.Ser1204=)
NM_025099.6(CTC1):c.3628C>T (p.Leu1210=)
NM_025099.6(CTC1):c.3633G>A (p.Gly1211=)
NM_025099.6(CTC1):c.3642T>C (p.Ala1214=) rs2151496599
NM_025099.6(CTC1):c.3645C>G (p.Ser1215=) rs2151496592
NM_025099.6(CTC1):c.36A>G (p.Glu12=)
NM_025099.6(CTC1):c.408A>G (p.Arg136=)
NM_025099.6(CTC1):c.420C>T (p.Gly140=) rs1207136461
NM_025099.6(CTC1):c.435+13T>A
NM_025099.6(CTC1):c.435+20C>A
NM_025099.6(CTC1):c.435+9A>C
NM_025099.6(CTC1):c.435+9A>G
NM_025099.6(CTC1):c.436-17C>G
NM_025099.6(CTC1):c.438C>A (p.Leu146=) rs922605347
NM_025099.6(CTC1):c.438C>G (p.Leu146=)
NM_025099.6(CTC1):c.438C>T (p.Leu146=)
NM_025099.6(CTC1):c.444C>T (p.Asp148=)
NM_025099.6(CTC1):c.447G>C (p.Leu149=)
NM_025099.6(CTC1):c.456T>C (p.Ser152=)
NM_025099.6(CTC1):c.480C>T (p.Phe160=)
NM_025099.6(CTC1):c.51G>A (p.Glu17=)
NM_025099.6(CTC1):c.54T>C (p.Asp18=)
NM_025099.6(CTC1):c.603C>T (p.Ile201=)
NM_025099.6(CTC1):c.633C>T (p.Cys211=)
NM_025099.6(CTC1):c.63C>G (p.Val21=)
NM_025099.6(CTC1):c.647+10C>A
NM_025099.6(CTC1):c.647+11C>T
NM_025099.6(CTC1):c.647+18G>A rs373103137
NM_025099.6(CTC1):c.647+8C>T rs2151530046
NM_025099.6(CTC1):c.648-8C>T rs2151527978
NM_025099.6(CTC1):c.678G>A (p.Leu226=)
NM_025099.6(CTC1):c.697T>C (p.Leu233=) rs775207921
NM_025099.6(CTC1):c.711G>A (p.Val237=) rs1196630450
NM_025099.6(CTC1):c.762A>G (p.Pro254=)
NM_025099.6(CTC1):c.768C>T (p.Val256=)
NM_025099.6(CTC1):c.771C>G (p.Thr257=)
NM_025099.6(CTC1):c.774C>T (p.His258=)
NM_025099.6(CTC1):c.792+12G>A rs2151527447
NM_025099.6(CTC1):c.792+9T>A
NM_025099.6(CTC1):c.793-18T>G rs2151524334
NM_025099.6(CTC1):c.793-20C>T
NM_025099.6(CTC1):c.793-4C>A
NM_025099.6(CTC1):c.793-4C>G
NM_025099.6(CTC1):c.793-8C>A rs2151524293
NM_025099.6(CTC1):c.805C>T (p.Leu269=) rs898388984
NM_025099.6(CTC1):c.810G>A (p.Val270=)
NM_025099.6(CTC1):c.822C>T (p.Ala274=)
NM_025099.6(CTC1):c.849G>C (p.Leu283=) rs2151523972
NM_025099.6(CTC1):c.903C>G (p.Thr301=)
NM_025099.6(CTC1):c.903C>T (p.Thr301=) rs1597385951
NM_025099.6(CTC1):c.939A>G (p.Glu313=)
NM_025099.6(CTC1):c.972A>G (p.Gly324=)
NM_025099.6(CTC1):c.978C>T (p.Leu326=)
NM_025099.6(CTC1):c.979T>C (p.Leu327=) rs1987705280
NM_025216.3(WNT10A):c.1002C>T (p.Ala334=) rs745552253
NM_025216.3(WNT10A):c.1006C>T (p.Leu336=) rs2106018580
NM_025216.3(WNT10A):c.1011C>A (p.Val337=) rs748769072
NM_025216.3(WNT10A):c.1011C>T (p.Val337=)
NM_025216.3(WNT10A):c.1041G>A (p.Glu347=)
NM_025216.3(WNT10A):c.1044C>A (p.Arg348=) rs760909396
NM_025216.3(WNT10A):c.1044C>G (p.Arg348=) rs760909396
NM_025216.3(WNT10A):c.1047G>A (p.Glu349=) rs766583861
NM_025216.3(WNT10A):c.1050G>T (p.Pro350=) rs1424608713
NM_025216.3(WNT10A):c.1053C>G (p.Arg351=)
NM_025216.3(WNT10A):c.1056G>A (p.Leu352=)
NM_025216.3(WNT10A):c.1059C>T (p.Asp353=)
NM_025216.3(WNT10A):c.105C>G (p.Ala35=)
NM_025216.3(WNT10A):c.1080C>A (p.Arg360=)
NM_025216.3(WNT10A):c.1081C>T (p.Leu361=)
NM_025216.3(WNT10A):c.1092G>A (p.Lys364=) rs1225945394
NM_025216.3(WNT10A):c.1101C>A (p.Ala367=)
NM_025216.3(WNT10A):c.1101C>G (p.Ala367=)
NM_025216.3(WNT10A):c.1107G>A (p.Ser369=) rs1944677167
NM_025216.3(WNT10A):c.1107G>T (p.Ser369=) rs1944677167
NM_025216.3(WNT10A):c.1110T>C (p.Asp370=)
NM_025216.3(WNT10A):c.111C>T (p.Pro37=)
NM_025216.3(WNT10A):c.1128C>T (p.Cys376=) rs121908122
NM_025216.3(WNT10A):c.113+10C>T
NM_025216.3(WNT10A):c.113+17T>C
NM_025216.3(WNT10A):c.113+19C>T
NM_025216.3(WNT10A):c.113+7C>A
NM_025216.3(WNT10A):c.113+8C>A rs2106010803
NM_025216.3(WNT10A):c.1137C>T (p.Arg379=)
NM_025216.3(WNT10A):c.114-10A>G
NM_025216.3(WNT10A):c.114-10A>T
NM_025216.3(WNT10A):c.114-8G>A
NM_025216.3(WNT10A):c.1143C>T (p.His381=) rs1364034477
NM_025216.3(WNT10A):c.1146C>T (p.Asn382=) rs759671927
NM_025216.3(WNT10A):c.1149C>T (p.Ile383=) rs2106018828
NM_025216.3(WNT10A):c.1155C>T (p.Arg385=)
NM_025216.3(WNT10A):c.1158G>A (p.Gln386=) rs2106018840
NM_025216.3(WNT10A):c.1161G>A (p.Thr387=) rs1464589833
NM_025216.3(WNT10A):c.1161G>T (p.Thr387=) rs1464589833
NM_025216.3(WNT10A):c.1164C>T (p.Arg388=) rs2106018848
NM_025216.3(WNT10A):c.1167C>T (p.Ser389=)
NM_025216.3(WNT10A):c.1173C>T (p.Arg391=) rs1575235198
NM_025216.3(WNT10A):c.1179C>T (p.His393=)
NM_025216.3(WNT10A):c.1185C>T (p.Arg395=)
NM_025216.3(WNT10A):c.1188C>T (p.Phe396=)
NM_025216.3(WNT10A):c.1197C>T (p.Cys399=)
NM_025216.3(WNT10A):c.1206G>C (p.Val402=)
NM_025216.3(WNT10A):c.1212C>T (p.Cys404=)
NM_025216.3(WNT10A):c.1218G>A (p.Glu406=)
NM_025216.3(WNT10A):c.1221C>T (p.Cys407=) rs1944679304
NM_025216.3(WNT10A):c.1242C>T (p.Ser414=)
NM_025216.3(WNT10A):c.1251G>A (p.Lys417=) rs2106018955
NM_025216.3(WNT10A):c.132T>A (p.Ile44=)
NM_025216.3(WNT10A):c.133C>T (p.Leu45=)
NM_025216.3(WNT10A):c.135G>T (p.Leu45=) rs1479630822
NM_025216.3(WNT10A):c.138C>T (p.Asp46=) rs2106011476
NM_025216.3(WNT10A):c.150C>A (p.Pro50=) rs761730775
NM_025216.3(WNT10A):c.156G>A (p.Glu52=)
NM_025216.3(WNT10A):c.162G>A (p.Val54=)
NM_025216.3(WNT10A):c.174C>T (p.Asn58=)
NM_025216.3(WNT10A):c.184C>T (p.Leu62=) rs2106011547
NM_025216.3(WNT10A):c.186A>G (p.Leu62=) rs2106011549
NM_025216.3(WNT10A):c.190T>C (p.Leu64=) rs1163565666
NM_025216.3(WNT10A):c.201G>A (p.Leu67=) rs904675306
NM_025216.3(WNT10A):c.201G>C (p.Leu67=) rs904675306
NM_025216.3(WNT10A):c.208C>A (p.Arg70=)
NM_025216.3(WNT10A):c.219G>A (p.Glu73=)
NM_025216.3(WNT10A):c.21C>G (p.Arg7=)
NM_025216.3(WNT10A):c.21C>T (p.Arg7=)
NM_025216.3(WNT10A):c.243G>A (p.Val81=)
NM_025216.3(WNT10A):c.267C>A (p.Ile89=) rs1163224121
NM_025216.3(WNT10A):c.273C>A (p.Ile91=) rs1011612159
NM_025216.3(WNT10A):c.276C>T (p.Ala92=) rs1944527945
NM_025216.3(WNT10A):c.279C>T (p.Ile93=) rs2106011654
NM_025216.3(WNT10A):c.306C>T (p.Asp102=)
NM_025216.3(WNT10A):c.309G>A (p.Gln103=)
NM_025216.3(WNT10A):c.318C>T (p.Asn106=)
NM_025216.3(WNT10A):c.33G>A (p.Arg11=)
NM_025216.3(WNT10A):c.342C>T (p.Asn114=)
NM_025216.3(WNT10A):c.348C>T (p.Ile116=) rs1575230042
NM_025216.3(WNT10A):c.351C>T (p.Pro117=) rs1944529568
NM_025216.3(WNT10A):c.363C>T (p.Pro121=) rs1944529758
NM_025216.3(WNT10A):c.36C>G (p.Leu12=)
NM_025216.3(WNT10A):c.36C>T (p.Leu12=) rs1481057549
NM_025216.3(WNT10A):c.372C>T (p.Ser124=) rs2106011740
NM_025216.3(WNT10A):c.376+13_376+14insCTTTCTTTCCAAGTTATGGATGTCCATTGTGTGGGGTCAGGTGACCTCCGTTTCCTCCA
NM_025216.3(WNT10A):c.376+17C>A
NM_025216.3(WNT10A):c.376+17C>G
NM_025216.3(WNT10A):c.376+18C>A
NM_025216.3(WNT10A):c.376+19T>C
NM_025216.3(WNT10A):c.376+8C>T
NM_025216.3(WNT10A):c.377-12_377-10del
NM_025216.3(WNT10A):c.377-18C>G
NM_025216.3(WNT10A):c.387G>A (p.Glu129=)
NM_025216.3(WNT10A):c.399C>T (p.Ala133=)
NM_025216.3(WNT10A):c.39A>T (p.Arg13=)
NM_025216.3(WNT10A):c.405C>T (p.Ala135=)
NM_025216.3(WNT10A):c.408C>G (p.Ile136Met) rs201117517
NM_025216.3(WNT10A):c.408C>T (p.Ile136=) rs201117517
NM_025216.3(WNT10A):c.420C>A (p.Gly140=) rs148979463
NM_025216.3(WNT10A):c.423G>C (p.Val141=) rs748995277
NM_025216.3(WNT10A):c.42C>A (p.Pro14=) rs1168115806
NM_025216.3(WNT10A):c.435G>A (p.Val145=)
NM_025216.3(WNT10A):c.438C>T (p.Ser146=) rs2106016102
NM_025216.3(WNT10A):c.441T>C (p.Asn147=)
NM_025216.3(WNT10A):c.444G>C (p.Ala148=) rs147145554
NM_025216.3(WNT10A):c.450C>A (p.Ala150=) rs1944627555
NM_025216.3(WNT10A):c.456C>T (p.Gly152=) rs1359098202
NM_025216.3(WNT10A):c.45G>A (p.Gln15=) rs1364600200
NM_025216.3(WNT10A):c.462G>A (p.Leu154=)
NM_025216.3(WNT10A):c.462G>T (p.Leu154=)
NM_025216.3(WNT10A):c.465G>A (p.Lys155=) rs2106016126
NM_025216.3(WNT10A):c.468C>T (p.Ala156=) rs754608071
NM_025216.3(WNT10A):c.474C>T (p.Gly158=) rs1944627971
NM_025216.3(WNT10A):c.477T>C (p.Cys159=) rs199662136
NM_025216.3(WNT10A):c.483G>A (p.Ala161=) rs200751156
NM_025216.3(WNT10A):c.483G>C (p.Ala161=) rs200751156
NM_025216.3(WNT10A):c.483G>T (p.Ala161=)
NM_025216.3(WNT10A):c.495G>C (p.Gly165=) rs1575233486
NM_025216.3(WNT10A):c.4G>A (p.Gly2Ser) rs533605522
NM_025216.3(WNT10A):c.507C>T (p.Ala169=)
NM_025216.3(WNT10A):c.525C>T (p.His175=) rs2106016216
NM_025216.3(WNT10A):c.529T>C (p.Leu177=)
NM_025216.3(WNT10A):c.537G>A (p.Leu179=)
NM_025216.3(WNT10A):c.540T>C (p.Asp180=) rs1944631576
NM_025216.3(WNT10A):c.54G>A (p.Pro18=) rs755581771
NM_025216.3(WNT10A):c.54G>C (p.Pro18=)
NM_025216.3(WNT10A):c.555T>C (p.Gly185=) rs2106016253
NM_025216.3(WNT10A):c.564G>A (p.Leu188=)
NM_025216.3(WNT10A):c.567C>T (p.Ser189=) rs1238996525
NM_025216.3(WNT10A):c.570T>C (p.His190=) rs1391189104
NM_025216.3(WNT10A):c.573G>A (p.Gly191=)
NM_025216.3(WNT10A):c.576C>G (p.Val192=)
NM_025216.3(WNT10A):c.579G>A (p.Pro193=)
NM_025216.3(WNT10A):c.585C>T (p.His195=)
NM_025216.3(WNT10A):c.606C>T (p.Ser202=) rs1428675922
NM_025216.3(WNT10A):c.612C>A (p.Gly204=)
NM_025216.3(WNT10A):c.613C>T (p.Leu205=) rs2106016326
NM_025216.3(WNT10A):c.62C>G (p.Ala21Gly) rs749864407
NM_025216.3(WNT10A):c.63G>T (p.Ala21=)
NM_025216.3(WNT10A):c.642C>T (p.Cys214=) rs1220459716
NM_025216.3(WNT10A):c.645C>T (p.Ser215=) rs2106016370
NM_025216.3(WNT10A):c.663G>A (p.Gly221=)
NM_025216.3(WNT10A):c.666G>A (p.Glu222=)
NM_025216.3(WNT10A):c.681C>T (p.Asp227=) rs2106016458
NM_025216.3(WNT10A):c.690C>T (p.Asp230=) rs754257075
NM_025216.3(WNT10A):c.705C>T (p.His235=) rs1575233706
NM_025216.3(WNT10A):c.719C>T (p.Ala240Val) rs201578578
NM_025216.3(WNT10A):c.720G>T (p.Ala240=)
NM_025216.3(WNT10A):c.72G>T (p.Val24=)
NM_025216.3(WNT10A):c.741C>T (p.Asn247=)
NM_025216.3(WNT10A):c.744A>G (p.Arg248=) rs1282187686
NM_025216.3(WNT10A):c.756+13C>A rs745958462
NM_025216.3(WNT10A):c.756+14C>A
NM_025216.3(WNT10A):c.756+15C>A
NM_025216.3(WNT10A):c.756+17T>C
NM_025216.3(WNT10A):c.756+17del
NM_025216.3(WNT10A):c.756+18G>A
NM_025216.3(WNT10A):c.756+20G>A
NM_025216.3(WNT10A):c.756+9C>A rs2106016606
NM_025216.3(WNT10A):c.757-16G>A
NM_025216.3(WNT10A):c.757-17G>T
NM_025216.3(WNT10A):c.757-20C>A
NM_025216.3(WNT10A):c.757-6C>T rs757483068
NM_025216.3(WNT10A):c.757-9C>A
NM_025216.3(WNT10A):c.75C>G (p.Leu25=)
NM_025216.3(WNT10A):c.75C>T (p.Leu25=)
NM_025216.3(WNT10A):c.762G>A (p.Val254=)
NM_025216.3(WNT10A):c.76C>T (p.Leu26=)
NM_025216.3(WNT10A):c.777G>T (p.Arg259=) rs959922127
NM_025216.3(WNT10A):c.78G>A (p.Leu26=)
NM_025216.3(WNT10A):c.78G>C (p.Leu26=)
NM_025216.3(WNT10A):c.78G>T (p.Leu26=)
NM_025216.3(WNT10A):c.795C>T (p.His265=)
NM_025216.3(WNT10A):c.801G>A (p.Thr267=) rs553058408
NM_025216.3(WNT10A):c.801G>T (p.Thr267=)
NM_025216.3(WNT10A):c.813C>T (p.Cys271=) rs915439029
NM_025216.3(WNT10A):c.816G>A (p.Gln272=) rs924058194
NM_025216.3(WNT10A):c.819C>G (p.Leu273=)
NM_025216.3(WNT10A):c.819C>T (p.Leu273=)
NM_025216.3(WNT10A):c.81C>T (p.Phe27=)
NM_025216.3(WNT10A):c.822G>A (p.Lys274=)
NM_025216.3(WNT10A):c.825G>T (p.Thr275=) rs776303684
NM_025216.3(WNT10A):c.840G>T (p.Thr280=)
NM_025216.3(WNT10A):c.843C>G (p.Pro281=)
NM_025216.3(WNT10A):c.843C>T (p.Pro281=) rs1944670532
NM_025216.3(WNT10A):c.855C>A (p.Thr285=) rs1387940323
NM_025216.3(WNT10A):c.858G>C (p.Val286=)
NM_025216.3(WNT10A):c.864G>A (p.Ala288=) rs1575234822
NM_025216.3(WNT10A):c.87A>G (p.Leu29=)
NM_025216.3(WNT10A):c.882C>T (p.Phe294=)
NM_025216.3(WNT10A):c.88C>T (p.Leu30=) rs1170576151
NM_025216.3(WNT10A):c.891C>A (p.Ala297=) rs748083299
NM_025216.3(WNT10A):c.900C>T (p.Ile300=)
NM_025216.3(WNT10A):c.903G>A (p.Arg301=)
NM_025216.3(WNT10A):c.903G>T (p.Arg301=)
NM_025216.3(WNT10A):c.906G>A (p.Pro302=) rs898393511
NM_025216.3(WNT10A):c.906G>T (p.Pro302=) rs898393511
NM_025216.3(WNT10A):c.90G>C (p.Leu30=)
NM_025216.3(WNT10A):c.915C>T (p.Arg305=)
NM_025216.3(WNT10A):c.918C>T (p.Asn306=)
NM_025216.3(WNT10A):c.927G>A (p.Gln309=)
NM_025216.3(WNT10A):c.930G>A (p.Leu310=) rs2106018391
NM_025216.3(WNT10A):c.936G>C (p.Pro312=)
NM_025216.3(WNT10A):c.939C>T (p.Gly313=) rs2106018426
NM_025216.3(WNT10A):c.945G>A (p.Ala315=)
NM_025216.3(WNT10A):c.951A>G (p.Ala317=) rs2106018469
NM_025216.3(WNT10A):c.966G>A (p.Pro322=)
NM_025216.3(WNT10A):c.981G>A (p.Pro327=)
NM_025216.3(WNT10A):c.981G>T (p.Pro327=)
NM_025216.3(WNT10A):c.999C>G (p.Pro333=) rs983371049
NM_052989.3(IFT122):c.1008+17T>G rs2077967767
NM_052989.3(IFT122):c.1008+9A>G
NM_052989.3(IFT122):c.1009-12C>G
NM_052989.3(IFT122):c.1009-17G>A
NM_052989.3(IFT122):c.1009-5C>T
NM_052989.3(IFT122):c.1044C>T (p.Tyr348=)
NM_052989.3(IFT122):c.108+15T>C
NM_052989.3(IFT122):c.109-10C>T rs2107928880
NM_052989.3(IFT122):c.109-14G>C
NM_052989.3(IFT122):c.1092C>T (p.Ala364=)
NM_052989.3(IFT122):c.1128C>T (p.His376=)
NM_052989.3(IFT122):c.1147+12_1147+17del
NM_052989.3(IFT122):c.1188C>T (p.Ile396=) rs1030774694
NM_052989.3(IFT122):c.1272C>T (p.Tyr424=)
NM_052989.3(IFT122):c.1275G>A (p.Arg425=) rs2108293656
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.1350+20A>G
NM_052989.3(IFT122):c.1350+7A>G
NM_052989.3(IFT122):c.1350+9C>A
NM_052989.3(IFT122):c.1386G>A (p.Val462=)
NM_052989.3(IFT122):c.1393C>A (p.Arg465=)
NM_052989.3(IFT122):c.1410G>A (p.Glu470=)
NM_052989.3(IFT122):c.1461C>A (p.Gly487=)
NM_052989.3(IFT122):c.1488+16C>A rs371107052
NM_052989.3(IFT122):c.1488+16C>T
NM_052989.3(IFT122):c.1488+19C>A
NM_052989.3(IFT122):c.1489-17C>T
NM_052989.3(IFT122):c.1524C>T (p.Ile508=)
NM_052989.3(IFT122):c.1572C>G (p.Ala524=)
NM_052989.3(IFT122):c.1590C>A (p.Ala530=) rs755545448
NM_052989.3(IFT122):c.1635C>T (p.Thr545=)
NM_052989.3(IFT122):c.1644G>T (p.Leu548=) rs1211494967
NM_052989.3(IFT122):c.1653+18G>A
NM_052989.3(IFT122):c.1654-16T>C rs2078911744
NM_052989.3(IFT122):c.1654-20C>G rs774202017
NM_052989.3(IFT122):c.1659A>G (p.Pro553=)
NM_052989.3(IFT122):c.165T>C (p.Thr55=)
NM_052989.3(IFT122):c.1704C>G (p.Leu568=)
NM_052989.3(IFT122):c.1758C>T (p.His586=)
NM_052989.3(IFT122):c.1785C>T (p.Val595=)
NM_052989.3(IFT122):c.180A>G (p.Ala60=)
NM_052989.3(IFT122):c.1848G>A (p.Pro616=)
NM_052989.3(IFT122):c.1851+8G>A
NM_052989.3(IFT122):c.1852-11A>C
NM_052989.3(IFT122):c.1852-13T>C
NM_052989.3(IFT122):c.1852-14A>G
NM_052989.3(IFT122):c.1852-8T>C
NM_052989.3(IFT122):c.186G>A (p.Ala62=)
NM_052989.3(IFT122):c.1915T>C (p.Leu639=)
NM_052989.3(IFT122):c.194-17T>C
NM_052989.3(IFT122):c.194-4T>C
NM_052989.3(IFT122):c.1950C>G (p.Ala650=)
NM_052989.3(IFT122):c.1959G>A (p.Ala653=)
NM_052989.3(IFT122):c.1983A>G (p.Thr661=)
NM_052989.3(IFT122):c.1992+10T>C
NM_052989.3(IFT122):c.1992+17C>T
NM_052989.3(IFT122):c.1993-11C>A
NM_052989.3(IFT122):c.1993-13T>C
NM_052989.3(IFT122):c.1993-16T>C
NM_052989.3(IFT122):c.1993-7G>A rs2285354
NM_052989.3(IFT122):c.1993-8_1993-7delinsTC rs2108448349
NM_052989.3(IFT122):c.2112G>A (p.Gly704=)
NM_052989.3(IFT122):c.2121T>C (p.His707=) rs763504971
NM_052989.3(IFT122):c.2127C>T (p.Ala709=)
NM_052989.3(IFT122):c.2148T>C (p.Ser716=) rs2108483305
NM_052989.3(IFT122):c.2163C>T (p.Leu721=)
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2208+7T>C
NM_052989.3(IFT122):c.2226A>T (p.Gly742=)
NM_052989.3(IFT122):c.2232C>T (p.Pro744=)
NM_052989.3(IFT122):c.2301C>G (p.Ala767=) rs540474261
NM_052989.3(IFT122):c.2301C>T (p.Ala767=)
NM_052989.3(IFT122):c.2331C>T (p.His777=)
NM_052989.3(IFT122):c.2375+14C>T
NM_052989.3(IFT122):c.2382C>T (p.Ile794=)
NM_052989.3(IFT122):c.2388C>T (p.Ile796=)
NM_052989.3(IFT122):c.2409T>C (p.Ala803=)
NM_052989.3(IFT122):c.2430G>A (p.Leu810=)
NM_052989.3(IFT122):c.243A>G (p.Thr81=)
NM_052989.3(IFT122):c.2452C>T (p.Leu818=)
NM_052989.3(IFT122):c.2454G>A (p.Leu818=)
NM_052989.3(IFT122):c.2496T>C (p.Gly832=)
NM_052989.3(IFT122):c.2547+18C>G
NM_052989.3(IFT122):c.2548-11C>T
NM_052989.3(IFT122):c.2548-18A>G
NM_052989.3(IFT122):c.2548-19C>A
NM_052989.3(IFT122):c.2548-19C>T
NM_052989.3(IFT122):c.2559G>A (p.Leu853=)
NM_052989.3(IFT122):c.2568G>A (p.Lys856=)
NM_052989.3(IFT122):c.2601G>A (p.Pro867=)
NM_052989.3(IFT122):c.2650+20A>C rs148941657
NM_052989.3(IFT122):c.2650+20A>G
NM_052989.3(IFT122):c.2652G>T (p.Ala884=)
NM_052989.3(IFT122):c.2676A>G (p.Arg892=)
NM_052989.3(IFT122):c.2703C>A (p.Leu901=)
NM_052989.3(IFT122):c.272+14G>T
NM_052989.3(IFT122):c.2724G>A (p.Glu908=)
NM_052989.3(IFT122):c.273-16G>C
NM_052989.3(IFT122):c.273-212C>T
NM_052989.3(IFT122):c.273-245C>T
NM_052989.3(IFT122):c.273-323C>T
NM_052989.3(IFT122):c.273-388T>A rs1009331489
NM_052989.3(IFT122):c.2778C>T (p.Leu926=)
NM_052989.3(IFT122):c.2792-13C>T
NM_052989.3(IFT122):c.2792-14G>A
NM_052989.3(IFT122):c.2799C>T (p.Ala933=)
NM_052989.3(IFT122):c.2886+19C>T
NM_052989.3(IFT122):c.2887-15T>A
NM_052989.3(IFT122):c.2913T>C (p.Pro971=)
NM_052989.3(IFT122):c.2943G>A (p.Leu981=)
NM_052989.3(IFT122):c.2970C>T (p.Pro990=)
NM_052989.3(IFT122):c.2987+12C>G
NM_052989.3(IFT122):c.2987+17C>A
NM_052989.3(IFT122):c.2987+17C>G
NM_052989.3(IFT122):c.2988-13C>T
NM_052989.3(IFT122):c.2988-5G>A
NM_052989.3(IFT122):c.3003C>G (p.Thr1001=)
NM_052989.3(IFT122):c.3027C>A (p.Leu1009=)
NM_052989.3(IFT122):c.3123C>T (p.Thr1041=)
NM_052989.3(IFT122):c.3147C>T (p.Asp1049=)
NM_052989.3(IFT122):c.3153+12G>A
NM_052989.3(IFT122):c.3153+15C>A
NM_052989.3(IFT122):c.3154-12G>A
NM_052989.3(IFT122):c.3154-15G>T
NM_052989.3(IFT122):c.3192C>T (p.Asn1064=)
NM_052989.3(IFT122):c.3195G>A (p.Pro1065=)
NM_052989.3(IFT122):c.3240C>T (p.Pro1080=)
NM_052989.3(IFT122):c.3255C>T (p.Ala1085=)
NM_052989.3(IFT122):c.3265+7C>G
NM_052989.3(IFT122):c.3265+8C>G
NM_052989.3(IFT122):c.3266-11A>G
NM_052989.3(IFT122):c.3318A>G (p.Glu1106=)
NM_052989.3(IFT122):c.3354C>T (p.Pro1118=)
NM_052989.3(IFT122):c.3378G>A (p.Glu1126=)
NM_052989.3(IFT122):c.3381T>C (p.Ile1127=)
NM_052989.3(IFT122):c.3384A>T (p.Ala1128=)
NM_052989.3(IFT122):c.3392-4C>G
NM_052989.3(IFT122):c.3392-5T>G rs2108728720
NM_052989.3(IFT122):c.3392-6C>T
NM_052989.3(IFT122):c.3471+11C>T
NM_052989.3(IFT122):c.3471+13C>T
NM_052989.3(IFT122):c.3471+7G>T
NM_052989.3(IFT122):c.3471+7_3471+34del rs762356612
NM_052989.3(IFT122):c.3472-19C>A
NM_052989.3(IFT122):c.349+12T>G
NM_052989.3(IFT122):c.350-14A>G
NM_052989.3(IFT122):c.350-9G>A
NM_052989.3(IFT122):c.3504G>A (p.Val1168=)
NM_052989.3(IFT122):c.3520C>T (p.Arg1174Cys)
NM_052989.3(IFT122):c.3630C>T (p.Cys1210=)
NM_052989.3(IFT122):c.3637-11T>C
NM_052989.3(IFT122):c.3637-13T>C rs2084584710
NM_052989.3(IFT122):c.3681C>T (p.Gly1227=)
NM_052989.3(IFT122):c.3687C>T (p.Cys1229=)
NM_052989.3(IFT122):c.3720C>T (p.Gly1240=)
NM_052989.3(IFT122):c.3723A>C (p.Pro1241=)
NM_052989.3(IFT122):c.39C>T (p.His13=)
NM_052989.3(IFT122):c.41+16G>A
NM_052989.3(IFT122):c.41+8G>A
NM_052989.3(IFT122):c.411C>T (p.Cys137=)
NM_052989.3(IFT122):c.416+13C>T
NM_052989.3(IFT122):c.416+19del rs2108102299
NM_052989.3(IFT122):c.417-6A>G
NM_052989.3(IFT122):c.42-6G>T rs757753414
NM_052989.3(IFT122):c.445C>T (p.Leu149=)
NM_052989.3(IFT122):c.462G>A (p.Gly154=)
NM_052989.3(IFT122):c.507C>T (p.Ile169=) rs139962927
NM_052989.3(IFT122):c.516G>A (p.Pro172=)
NM_052989.3(IFT122):c.516G>T (p.Pro172=) rs748272790
NM_052989.3(IFT122):c.563+18C>T
NM_052989.3(IFT122):c.567A>G (p.Arg189=)
NM_052989.3(IFT122):c.588C>T (p.Asn196=)
NM_052989.3(IFT122):c.612T>C (p.Asp204=)
NM_052989.3(IFT122):c.690A>G (p.Ala230=)
NM_052989.3(IFT122):c.72A>G (p.Gly24=)
NM_052989.3(IFT122):c.795C>T (p.Phe265=) rs2077133706
NM_052989.3(IFT122):c.816+10C>A
NM_052989.3(IFT122):c.816+12T>C rs2077135597
NM_052989.3(IFT122):c.894G>A (p.Gly298=) rs1300966652
NM_052989.3(IFT122):c.903C>T (p.Asp301=)
NM_052989.3(IFT122):c.993G>A (p.Pro331=)
NM_145861.4(EDARADD):c.120+20C>T
NM_145861.4(EDARADD):c.147G>A (p.Thr49=)
NM_145861.4(EDARADD):c.161-17_161-15del
NM_145861.4(EDARADD):c.570C>T (p.Asp190=)
NM_145861.4(EDARADD):c.62-18T>C
NM_147127.5(EVC2):c.1005+11C>G
NM_147127.5(EVC2):c.1005+14G>A
NM_147127.5(EVC2):c.1005+15A>C
NM_147127.5(EVC2):c.1005+17G>A
NM_147127.5(EVC2):c.1005+7C>G rs1453329419
NM_147127.5(EVC2):c.1006-13A>C
NM_147127.5(EVC2):c.1006-15G>A
NM_147127.5(EVC2):c.1006-15G>T rs371325268
NM_147127.5(EVC2):c.1006-16C>T
NM_147127.5(EVC2):c.1006-17C>A
NM_147127.5(EVC2):c.1006-17C>G
NM_147127.5(EVC2):c.1006-5T>C
NM_147127.5(EVC2):c.1006-5dup
NM_147127.5(EVC2):c.1006-6C>A
NM_147127.5(EVC2):c.1017T>C (p.Tyr339=)
NM_147127.5(EVC2):c.1020G>A (p.Glu340=)
NM_147127.5(EVC2):c.1041G>T (p.Pro347=)
NM_147127.5(EVC2):c.1047C>T (p.Thr349=) rs2108896061
NM_147127.5(EVC2):c.1050A>G (p.Ser350=)
NM_147127.5(EVC2):c.1059C>A (p.Gly353=) rs77793386
NM_147127.5(EVC2):c.1086C>T (p.Asp362=) rs1719017773
NM_147127.5(EVC2):c.1102C>T (p.Leu368=)
NM_147127.5(EVC2):c.1110C>T (p.Ser370=) rs748718225
NM_147127.5(EVC2):c.111C>T (p.Pro37=)
NM_147127.5(EVC2):c.1140A>G (p.Leu380=)
NM_147127.5(EVC2):c.1145+19A>G rs1560206472
NM_147127.5(EVC2):c.1146-11G>A
NM_147127.5(EVC2):c.1146-11G>T
NM_147127.5(EVC2):c.1146-18G>T
NM_147127.5(EVC2):c.1146-19T>C
NM_147127.5(EVC2):c.1146-19T>G
NM_147127.5(EVC2):c.1146-5C>T
NM_147127.5(EVC2):c.1146-9G>C rs774847750
NM_147127.5(EVC2):c.114C>T (p.Arg38=)
NM_147127.5(EVC2):c.1152G>A (p.Glu384=)
NM_147127.5(EVC2):c.1161C>G (p.Thr387=) rs1717278166
NM_147127.5(EVC2):c.1170G>A (p.Arg390=)
NM_147127.5(EVC2):c.1173A>C (p.Ala391=) rs1276908557
NM_147127.5(EVC2):c.1176T>C (p.Asp392=) rs1577195366
NM_147127.5(EVC2):c.1197A>C (p.Arg399=)
NM_147127.5(EVC2):c.1206C>A (p.Ile402=)
NM_147127.5(EVC2):c.1206C>T (p.Ile402=)
NM_147127.5(EVC2):c.1209C>T (p.Ser403=)
NM_147127.5(EVC2):c.120C>T (p.Arg40=)
NM_147127.5(EVC2):c.1212G>A (p.Lys404=)
NM_147127.5(EVC2):c.1215T>C (p.Asp405=)
NM_147127.5(EVC2):c.1218C>A (p.Ile406=)
NM_147127.5(EVC2):c.1230G>A (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.1230G>T (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.123C>T (p.Pro41=) rs1722355414
NM_147127.5(EVC2):c.1245C>T (p.Thr415=) rs747208576
NM_147127.5(EVC2):c.1254C>T (p.Gly418=) rs2108864185
NM_147127.5(EVC2):c.1257C>T (p.His419=) rs1717268176
NM_147127.5(EVC2):c.1260C>G (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1260C>T (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1263A>T (p.Ser421=)
NM_147127.5(EVC2):c.1266C>T (p.Pro422=)
NM_147127.5(EVC2):c.1302G>A (p.Lys434=)
NM_147127.5(EVC2):c.1309C>T (p.Leu437=) rs1434202396
NM_147127.5(EVC2):c.1311A>C (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1315C>T (p.Leu439=)
NM_147127.5(EVC2):c.1317G>T (p.Leu439=)
NM_147127.5(EVC2):c.132G>A (p.Ala44=)
NM_147127.5(EVC2):c.1332A>G (p.Gln444=)
NM_147127.5(EVC2):c.1335G>A (p.Glu445=) rs2108863935
NM_147127.5(EVC2):c.1359A>G (p.Ala453=)
NM_147127.5(EVC2):c.1359A>T (p.Ala453=) rs1478613738
NM_147127.5(EVC2):c.1360T>C (p.Leu454=) rs2108863865
NM_147127.5(EVC2):c.1362G>A (p.Leu454=)
NM_147127.5(EVC2):c.1371A>G (p.Glu457=)
NM_147127.5(EVC2):c.1383A>G (p.Glu461=)
NM_147127.5(EVC2):c.1386A>G (p.Thr462=)
NM_147127.5(EVC2):c.138A>G (p.Pro46=)
NM_147127.5(EVC2):c.1395G>A (p.Lys465=)
NM_147127.5(EVC2):c.1401A>G (p.Glu467=)
NM_147127.5(EVC2):c.1413G>A (p.Gln471=) rs2108863731
NM_147127.5(EVC2):c.141C>T (p.Pro47=)
NM_147127.5(EVC2):c.142C>A (p.Arg48=)
NM_147127.5(EVC2):c.1443A>G (p.Glu481=)
NM_147127.5(EVC2):c.144G>A (p.Arg48=) rs2151750018
NM_147127.5(EVC2):c.1450C>T (p.Leu484=)
NM_147127.5(EVC2):c.1470+10G>A rs1198809289
NM_147127.5(EVC2):c.1470+11_1470+19del
NM_147127.5(EVC2):c.1470+12C>G
NM_147127.5(EVC2):c.1470+7C>T
NM_147127.5(EVC2):c.1470+8A>G rs761155878
NM_147127.5(EVC2):c.1471-10C>T rs1439878397
NM_147127.5(EVC2):c.1471-12T>G
NM_147127.5(EVC2):c.1471-13T>C
NM_147127.5(EVC2):c.1471-17C>T
NM_147127.5(EVC2):c.1471-20T>C
NM_147127.5(EVC2):c.1471-4C>G rs947596816
NM_147127.5(EVC2):c.1471-5T>A rs1043283150
NM_147127.5(EVC2):c.1471-5T>C rs1043283150
NM_147127.5(EVC2):c.1471-8C>G rs2108851855
NM_147127.5(EVC2):c.1497G>A (p.Leu499=)
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1503C>A (p.Thr501=) rs369530549
NM_147127.5(EVC2):c.1503C>T (p.Thr501=)
NM_147127.5(EVC2):c.1506C>G (p.Leu502=)
NM_147127.5(EVC2):c.1509T>C (p.His503=) rs771803987
NM_147127.5(EVC2):c.150C>G (p.Pro50=)
NM_147127.5(EVC2):c.150C>T (p.Pro50=) rs1347650453
NM_147127.5(EVC2):c.1518A>G (p.Glu506=)
NM_147127.5(EVC2):c.1539T>C (p.Ser513=)
NM_147127.5(EVC2):c.1563C>T (p.Asp521=)
NM_147127.5(EVC2):c.1566T>C (p.Phe522=)
NM_147127.5(EVC2):c.1578C>T (p.His526=)
NM_147127.5(EVC2):c.159T>C (p.Ala53=) rs2151749984
NM_147127.5(EVC2):c.1611G>A (p.Leu537=)
NM_147127.5(EVC2):c.1611G>T (p.Leu537=)
NM_147127.5(EVC2):c.1614C>T (p.His538=)
NM_147127.5(EVC2):c.1617T>C (p.Ser539=)
NM_147127.5(EVC2):c.1626T>C (p.Phe542=)
NM_147127.5(EVC2):c.1629C>G (p.Thr543=)
NM_147127.5(EVC2):c.1629C>T (p.Thr543=)
NM_147127.5(EVC2):c.1659A>G (p.Glu553=)
NM_147127.5(EVC2):c.1671G>A (p.Glu557=) rs2108851360
NM_147127.5(EVC2):c.1686G>A (p.Leu562=)
NM_147127.5(EVC2):c.1686G>T (p.Leu562=) rs1236419324
NM_147127.5(EVC2):c.1689G>A (p.Leu563=) rs2108851319
NM_147127.5(EVC2):c.1710+12G>A
NM_147127.5(EVC2):c.1710+14C>A rs755278587
NM_147127.5(EVC2):c.1710+14C>T
NM_147127.5(EVC2):c.1710+17G>A
NM_147127.5(EVC2):c.1710+17G>T
NM_147127.5(EVC2):c.1710+18C>T
NM_147127.5(EVC2):c.1710+7C>T rs2108851268
NM_147127.5(EVC2):c.1710+8A>C
NM_147127.5(EVC2):c.1710+8A>G
NM_147127.5(EVC2):c.1711-14T>C
NM_147127.5(EVC2):c.1711-18T>G
NM_147127.5(EVC2):c.1711-19T>A
NM_147127.5(EVC2):c.1711-9A>C rs1716315517
NM_147127.5(EVC2):c.1734C>T (p.Asp578=)
NM_147127.5(EVC2):c.1749T>C (p.Ser583=)
NM_147127.5(EVC2):c.174C>T (p.Pro58=) rs1317163956
NM_147127.5(EVC2):c.1752G>A (p.Lys584=) rs762593768
NM_147127.5(EVC2):c.1762C>T (p.Leu588=)
NM_147127.5(EVC2):c.1764A>C (p.Leu588=)
NM_147127.5(EVC2):c.1767T>C (p.Ser589=) rs2108847209
NM_147127.5(EVC2):c.1771A>C (p.Arg591=)
NM_147127.5(EVC2):c.1773A>G (p.Arg591=)
NM_147127.5(EVC2):c.1788A>G (p.Glu596=) rs2108847187
NM_147127.5(EVC2):c.1791T>C (p.Tyr597=) rs1716303868
NM_147127.5(EVC2):c.1794G>T (p.Leu598=) rs1577179214
NM_147127.5(EVC2):c.1797C>T (p.Val599=) rs2108847158
NM_147127.5(EVC2):c.1806C>G (p.Leu602=) rs1172959079
NM_147127.5(EVC2):c.1806C>T (p.Leu602=)
NM_147127.5(EVC2):c.1812A>G (p.Ser604=) rs781487000
NM_147127.5(EVC2):c.1821C>A (p.Thr607=)
NM_147127.5(EVC2):c.1833C>A (p.Gly611=) rs879125910
NM_147127.5(EVC2):c.183G>A (p.Arg61=)
NM_147127.5(EVC2):c.1848T>G (p.Ala616=)
NM_147127.5(EVC2):c.1854C>G (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1854C>T (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1857G>A (p.Gln619=) rs2108847045
NM_147127.5(EVC2):c.1860G>C (p.Leu620=) rs763402206
NM_147127.5(EVC2):c.1866C>T (p.His622=) rs1300374301
NM_147127.5(EVC2):c.1869C>T (p.Leu623=) rs557920458
NM_147127.5(EVC2):c.186C>T (p.Ile62=)
NM_147127.5(EVC2):c.1878G>A (p.Lys626=) rs1001648119
NM_147127.5(EVC2):c.1886+10A>C rs2108846937
NM_147127.5(EVC2):c.1886+13A>G
NM_147127.5(EVC2):c.1886+16G>A
NM_147127.5(EVC2):c.1886+9C>G
NM_147127.5(EVC2):c.1886+9C>T
NM_147127.5(EVC2):c.1887-12C>T
NM_147127.5(EVC2):c.1887-15A>G
NM_147127.5(EVC2):c.1887-16C>T
NM_147127.5(EVC2):c.1887-17A>C
NM_147127.5(EVC2):c.1887-18T>C
NM_147127.5(EVC2):c.1887-19T>G
NM_147127.5(EVC2):c.1887-4C>G rs376809175
NM_147127.5(EVC2):c.1887-4C>T
NM_147127.5(EVC2):c.1893G>A (p.Gly631=) rs1363412492
NM_147127.5(EVC2):c.1923A>T (p.Leu641=) rs1193715900
NM_147127.5(EVC2):c.1924T>C (p.Leu642=) rs2108843348
NM_147127.5(EVC2):c.1932G>A (p.Arg644=) rs1577175315
NM_147127.5(EVC2):c.1935T>C (p.Ala645=) rs2108843316
NM_147127.5(EVC2):c.1935T>G (p.Ala645=)
NM_147127.5(EVC2):c.1941A>G (p.Thr647=) rs2108843302
NM_147127.5(EVC2):c.1950T>C (p.Phe650=)
NM_147127.5(EVC2):c.1959G>A (p.Lys653=) rs2108843274
NM_147127.5(EVC2):c.195G>T (p.Gly65=)
NM_147127.5(EVC2):c.1966T>C (p.Leu656=)
NM_147127.5(EVC2):c.198G>T (p.Arg66=)
NM_147127.5(EVC2):c.2001C>G (p.Leu667=) rs756855227
NM_147127.5(EVC2):c.2007A>G (p.Gln669=)
NM_147127.5(EVC2):c.2011T>C (p.Leu671=)
NM_147127.5(EVC2):c.2019T>C (p.Thr673=) rs2108843154
NM_147127.5(EVC2):c.2028A>G (p.Arg676=)
NM_147127.5(EVC2):c.2031A>G (p.Arg677=) rs1577175103
NM_147127.5(EVC2):c.2037G>A (p.Leu679=)
NM_147127.5(EVC2):c.2038C>T (p.Leu680=)
NM_147127.5(EVC2):c.2046+10G>A
NM_147127.5(EVC2):c.2046+13T>C
NM_147127.5(EVC2):c.2046+14del
NM_147127.5(EVC2):c.2046+7A>G rs769477288
NM_147127.5(EVC2):c.2047-10G>A rs2108839481
NM_147127.5(EVC2):c.2047-17C>G
NM_147127.5(EVC2):c.2047-4C>G rs2108839468
NM_147127.5(EVC2):c.2047-4C>T
NM_147127.5(EVC2):c.2047-9A>C rs73198154
NM_147127.5(EVC2):c.2058G>A (p.Gln686=)
NM_147127.5(EVC2):c.2067G>A (p.Glu689=) rs201506848
NM_147127.5(EVC2):c.2076C>G (p.Ser692=)
NM_147127.5(EVC2):c.2079C>A (p.Val693=) rs201171209
NM_147127.5(EVC2):c.2082C>G (p.Gly694=)
NM_147127.5(EVC2):c.2085G>A (p.Glu695=)
NM_147127.5(EVC2):c.2088C>T (p.Ala696=)
NM_147127.5(EVC2):c.2097G>A (p.Thr699=)
NM_147127.5(EVC2):c.2121G>A (p.Leu707=)
NM_147127.5(EVC2):c.2137C>T (p.Leu713=) rs143662104
NM_147127.5(EVC2):c.2139G>C (p.Leu713=) rs1420713271
NM_147127.5(EVC2):c.213C>A (p.Pro71=) rs956555128
NM_147127.5(EVC2):c.213C>G (p.Pro71=)
NM_147127.5(EVC2):c.2145G>A (p.Glu715=)
NM_147127.5(EVC2):c.2148G>A (p.Glu716=)
NM_147127.5(EVC2):c.2181T>A (p.Arg727=) rs2108839127
NM_147127.5(EVC2):c.2187C>T (p.Asp729=)
NM_147127.5(EVC2):c.2197C>T (p.Leu733=)
NM_147127.5(EVC2):c.2199G>A (p.Leu733=)
NM_147127.5(EVC2):c.21G>C (p.Arg7=)
NM_147127.5(EVC2):c.2208C>A (p.Leu736=) rs762567213
NM_147127.5(EVC2):c.2208C>G (p.Leu736=)
NM_147127.5(EVC2):c.2217G>T (p.Leu739=) rs2108839042
NM_147127.5(EVC2):c.2220C>A (p.Thr740=) rs1322356357
NM_147127.5(EVC2):c.2226G>T (p.Ser742=)
NM_147127.5(EVC2):c.2241C>T (p.Ala747=) rs2108838978
NM_147127.5(EVC2):c.2256G>T (p.Arg752=) rs745815880
NM_147127.5(EVC2):c.225G>A (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.225G>C (p.Thr75=)
NM_147127.5(EVC2):c.225G>T (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.2260C>T (p.Leu754=) rs994924513
NM_147127.5(EVC2):c.2262G>C (p.Leu754=) rs1715799265
NM_147127.5(EVC2):c.228+11C>T
NM_147127.5(EVC2):c.228+13C>G
NM_147127.5(EVC2):c.228+13C>T
NM_147127.5(EVC2):c.228+14G>A
NM_147127.5(EVC2):c.228+16C>T
NM_147127.5(EVC2):c.228+17C>A
NM_147127.5(EVC2):c.228+18C>G
NM_147127.5(EVC2):c.228+20A>C
NM_147127.5(EVC2):c.228+8G>A rs965425013
NM_147127.5(EVC2):c.228+9G>T
NM_147127.5(EVC2):c.229-14C>G
NM_147127.5(EVC2):c.229-18G>C
NM_147127.5(EVC2):c.2292C>T (p.Leu764=)
NM_147127.5(EVC2):c.2301G>A (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2301G>C (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2304G>A (p.Val768=)
NM_147127.5(EVC2):c.2316C>T (p.Phe772=)
NM_147127.5(EVC2):c.2319G>A (p.Leu773=) rs775800077
NM_147127.5(EVC2):c.231C>T (p.Asp77=)
NM_147127.5(EVC2):c.2322G>A (p.Gln774=)
NM_147127.5(EVC2):c.2328C>T (p.Ile776=) rs2108838807
NM_147127.5(EVC2):c.2329C>T (p.Leu777=)
NM_147127.5(EVC2):c.232T>C (p.Leu78=)
NM_147127.5(EVC2):c.2346G>A (p.Lys782=) rs2108838756
NM_147127.5(EVC2):c.234G>A (p.Leu78=)
NM_147127.5(EVC2):c.2355T>C (p.Ala785=)
NM_147127.5(EVC2):c.2358A>G (p.Ala786=) rs903048338
NM_147127.5(EVC2):c.2359C>A (p.Arg787=) rs776830520
NM_147127.5(EVC2):c.2361G>A (p.Arg787=)
NM_147127.5(EVC2):c.2361G>T (p.Arg787=) rs1041638769
NM_147127.5(EVC2):c.2373G>A (p.Leu791=)
NM_147127.5(EVC2):c.2373G>T (p.Leu791=) rs762295916
NM_147127.5(EVC2):c.237C>G (p.Pro79=) rs1721565602
NM_147127.5(EVC2):c.2382G>A (p.Glu794=)
NM_147127.5(EVC2):c.2385G>A (p.Glu795=)
NM_147127.5(EVC2):c.2392A>C (p.Arg798=)
NM_147127.5(EVC2):c.2406T>C (p.Gly802=)
NM_147127.5(EVC2):c.2412G>A (p.Gln804=) rs1715777770
NM_147127.5(EVC2):c.2415C>T (p.Ser805=)
NM_147127.5(EVC2):c.2427A>G (p.Arg809=)
NM_147127.5(EVC2):c.2433G>A (p.Lys811=) rs2108838539
NM_147127.5(EVC2):c.2448G>A (p.Glu816=)
NM_147127.5(EVC2):c.2451C>A (p.Ala817=)
NM_147127.5(EVC2):c.2451C>G (p.Ala817=) rs377709998
NM_147127.5(EVC2):c.2454G>A (p.Val818=)
NM_147127.5(EVC2):c.2469A>C (p.Ala823=)
NM_147127.5(EVC2):c.2472G>A (p.Glu824=)
NM_147127.5(EVC2):c.2473C>T (p.Leu825=) rs774185697
NM_147127.5(EVC2):c.2481C>T (p.Arg827=) rs1577169762
NM_147127.5(EVC2):c.2490C>T (p.His830=) rs944565097
NM_147127.5(EVC2):c.2493G>A (p.Leu831=) rs369796222
NM_147127.5(EVC2):c.2493G>T (p.Leu831=)
NM_147127.5(EVC2):c.24G>A (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.24G>T (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.2501+14C>T
NM_147127.5(EVC2):c.2501+15G>A
NM_147127.5(EVC2):c.2501+17G>T rs755613338
NM_147127.5(EVC2):c.2501+19C>T
NM_147127.5(EVC2):c.2501+20G>C
NM_147127.5(EVC2):c.2501+7G>A
NM_147127.5(EVC2):c.2502-11C>G
NM_147127.5(EVC2):c.2502-12T>G
NM_147127.5(EVC2):c.2502-18C>G
NM_147127.5(EVC2):c.2502-20G>A
NM_147127.5(EVC2):c.2502-20G>C
NM_147127.5(EVC2):c.2502-7C>T
NM_147127.5(EVC2):c.2505G>A (p.Lys835=) rs527993206
NM_147127.5(EVC2):c.2508C>G (p.Leu836=)
NM_147127.5(EVC2):c.2508C>T (p.Leu836=)
NM_147127.5(EVC2):c.2514C>A (p.Ser838=) rs1715456441
NM_147127.5(EVC2):c.2526C>T (p.Ser842=)
NM_147127.5(EVC2):c.2529G>C (p.Leu843=)
NM_147127.5(EVC2):c.2535A>G (p.Glu845=)
NM_147127.5(EVC2):c.2541G>A (p.Glu847=)
NM_147127.5(EVC2):c.2542C>T (p.Leu848=)
NM_147127.5(EVC2):c.2544G>A (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2544G>C (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2568T>C (p.His856=)
NM_147127.5(EVC2):c.2583G>A (p.Gln861=)
NM_147127.5(EVC2):c.258G>A (p.Val86=)
NM_147127.5(EVC2):c.2604C>G (p.Leu868=)
NM_147127.5(EVC2):c.2610G>A (p.Lys870=)
NM_147127.5(EVC2):c.2614C>A (p.Arg872=)
NM_147127.5(EVC2):c.2616G>C (p.Arg872=) rs1715442469
NM_147127.5(EVC2):c.2619C>G (p.Ala873=)
NM_147127.5(EVC2):c.2619C>T (p.Ala873=)
NM_147127.5(EVC2):c.261A>G (p.Glu87=) rs1721564411
NM_147127.5(EVC2):c.2620C>A (p.Arg874=) rs760382778
NM_147127.5(EVC2):c.2631G>T (p.Leu877=) rs2108833246
NM_147127.5(EVC2):c.2649G>T (p.Ala883=) rs751714104
NM_147127.5(EVC2):c.264C>T (p.Cys88=)
NM_147127.5(EVC2):c.2658A>G (p.Glu886=) rs2108833172
NM_147127.5(EVC2):c.2661A>C (p.Ala887=)
NM_147127.5(EVC2):c.2661A>G (p.Ala887=)
NM_147127.5(EVC2):c.2676G>A (p.Leu892=) rs2108833128
NM_147127.5(EVC2):c.2676G>T (p.Leu892=)
NM_147127.5(EVC2):c.2679C>T (p.Asp893=)
NM_147127.5(EVC2):c.2682G>A (p.Gln894=) rs772672973
NM_147127.5(EVC2):c.2694C>G (p.Ala898=)
NM_147127.5(EVC2):c.2703G>A (p.Leu901=) rs902054124
NM_147127.5(EVC2):c.2706+10A>G
NM_147127.5(EVC2):c.2706+11C>G
NM_147127.5(EVC2):c.2706+13T>A
NM_147127.5(EVC2):c.2706+16C>G
NM_147127.5(EVC2):c.2707-11C>T
NM_147127.5(EVC2):c.2707-15C>G rs2108829132
NM_147127.5(EVC2):c.2707-15C>T
NM_147127.5(EVC2):c.2707-4C>G rs1368840473
NM_147127.5(EVC2):c.2707-6C>T rs2108829097
NM_147127.5(EVC2):c.2707-7_2707-6insA
NM_147127.5(EVC2):c.2712G>A (p.Gln904=) rs2108829070
NM_147127.5(EVC2):c.2727G>A (p.Lys909=)
NM_147127.5(EVC2):c.2730A>G (p.Ser910=)
NM_147127.5(EVC2):c.2736C>G (p.Ser912=)
NM_147127.5(EVC2):c.273T>C (p.Phe91=) rs2151739532
NM_147127.5(EVC2):c.2742T>C (p.Ser914=)
NM_147127.5(EVC2):c.2757G>A (p.Glu919=) rs2108828983
NM_147127.5(EVC2):c.2761C>T (p.Leu921=)
NM_147127.5(EVC2):c.2775C>A (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2775C>T (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2781C>T (p.Asp927=) rs1193965705
NM_147127.5(EVC2):c.2796T>C (p.Cys932=)
NM_147127.5(EVC2):c.279T>G (p.Thr93=)
NM_147127.5(EVC2):c.27C>G (p.Arg9=) rs2151750187
NM_147127.5(EVC2):c.27C>T (p.Arg9=)
NM_147127.5(EVC2):c.2811T>C (p.Ser937=)
NM_147127.5(EVC2):c.2820G>C (p.Leu940=) rs145709352
NM_147127.5(EVC2):c.2823G>A (p.Val941=)
NM_147127.5(EVC2):c.2829+11C>G
NM_147127.5(EVC2):c.2829+12T>G
NM_147127.5(EVC2):c.283+15T>C
NM_147127.5(EVC2):c.283+15del
NM_147127.5(EVC2):c.283+17G>A
NM_147127.5(EVC2):c.2830-10C>T
NM_147127.5(EVC2):c.2830-15C>A
NM_147127.5(EVC2):c.2830-18A>C
NM_147127.5(EVC2):c.2830-19C>T
NM_147127.5(EVC2):c.2830-5C>G rs1712137643
NM_147127.5(EVC2):c.2830-5C>T
NM_147127.5(EVC2):c.2830-7C>T
NM_147127.5(EVC2):c.2830-8C>T rs548370448
NM_147127.5(EVC2):c.2830-9C>T rs1414864322
NM_147127.5(EVC2):c.2832T>G (p.Val944=)
NM_147127.5(EVC2):c.2838T>C (p.Gly946=) rs764538071
NM_147127.5(EVC2):c.284-10T>G rs1192584069
NM_147127.5(EVC2):c.284-11T>C
NM_147127.5(EVC2):c.284-14T>C
NM_147127.5(EVC2):c.284-14T>G
NM_147127.5(EVC2):c.284-15GTT[2]
NM_147127.5(EVC2):c.284-16T>C
NM_147127.5(EVC2):c.284-19G>A
NM_147127.5(EVC2):c.284-20G>T
NM_147127.5(EVC2):c.284-5T>C rs994568319
NM_147127.5(EVC2):c.2842T>C (p.Leu948=) rs2108788809
NM_147127.5(EVC2):c.2847G>C (p.Leu949=) rs763331726
NM_147127.5(EVC2):c.2848C>A (p.Arg950=)
NM_147127.5(EVC2):c.2871G>A (p.Glu957=)
NM_147127.5(EVC2):c.2877G>A (p.Gln959=)
NM_147127.5(EVC2):c.2880G>A (p.Glu960=) rs903682822
NM_147127.5(EVC2):c.2886C>T (p.Gly962=)
NM_147127.5(EVC2):c.2898G>T (p.Ser966=) rs150055324
NM_147127.5(EVC2):c.2901T>C (p.Leu967=)
NM_147127.5(EVC2):c.2910G>A (p.Leu970=)
NM_147127.5(EVC2):c.2919G>A (p.Gln973=) rs759657816
NM_147127.5(EVC2):c.291A>C (p.Ala97=) rs752850734
NM_147127.5(EVC2):c.2928C>A (p.Ser976=) rs2108788636
NM_147127.5(EVC2):c.2928C>T (p.Ser976=)
NM_147127.5(EVC2):c.2937C>A (p.Thr979=) rs750126669
NM_147127.5(EVC2):c.2940G>A (p.Glu980=) rs2108788600
NM_147127.5(EVC2):c.2943T>C (p.Thr981=) rs2108788584
NM_147127.5(EVC2):c.2944C>T (p.Leu982=) rs927421145
NM_147127.5(EVC2):c.2946G>A (p.Leu982=) rs2108788572
NM_147127.5(EVC2):c.2946G>C (p.Leu982=)
NM_147127.5(EVC2):c.294A>C (p.Pro98=)
NM_147127.5(EVC2):c.2955C>T (p.Tyr985=) rs2108788542
NM_147127.5(EVC2):c.2961C>A (p.Ala987=)
NM_147127.5(EVC2):c.2967C>T (p.Leu989=) rs2108788495
NM_147127.5(EVC2):c.2979C>T (p.Asp993=)
NM_147127.5(EVC2):c.2980T>C (p.Leu994=) rs2108788479
NM_147127.5(EVC2):c.2986C>T (p.Leu996=)
NM_147127.5(EVC2):c.2988G>A (p.Leu996=)
NM_147127.5(EVC2):c.2988G>T (p.Leu996=)
NM_147127.5(EVC2):c.3003A>G (p.Ala1001=) rs1577118232
NM_147127.5(EVC2):c.3015G>A (p.Leu1005=) rs1577118206
NM_147127.5(EVC2):c.3027C>T (p.Ala1009=)
NM_147127.5(EVC2):c.3039_3040delinsTG (p.Leu1014Val) rs2108788322
NM_147127.5(EVC2):c.3048G>T (p.Ser1016=) rs182310332
NM_147127.5(EVC2):c.3051C>T (p.His1017=) rs2108788303
NM_147127.5(EVC2):c.3055C>A (p.Arg1019=)
NM_147127.5(EVC2):c.3057+10G>T rs2108788255
NM_147127.5(EVC2):c.3057+11G>A
NM_147127.5(EVC2):c.3057+11G>T
NM_147127.5(EVC2):c.3057+12C>T
NM_147127.5(EVC2):c.3057+14C>T
NM_147127.5(EVC2):c.3057+14_3057+16del
NM_147127.5(EVC2):c.3057+15T>C
NM_147127.5(EVC2):c.3057+9A>C rs774288170
NM_147127.5(EVC2):c.3057+9A>T
NM_147127.5(EVC2):c.3058-17G>A
NM_147127.5(EVC2):c.3058-20T>C
NM_147127.5(EVC2):c.3058-4G>T rs1490949079
NM_147127.5(EVC2):c.3058-7T>C
NM_147127.5(EVC2):c.3058-9C>T rs1722942659
NM_147127.5(EVC2):c.3069G>A (p.Glu1023=) rs2108778947
NM_147127.5(EVC2):c.306A>G (p.Lys102=) rs2151736755
NM_147127.5(EVC2):c.3075G>A (p.Glu1025=) rs1208477150
NM_147127.5(EVC2):c.3093G>A (p.Gln1031=) rs1429408396
NM_147127.5(EVC2):c.3096G>C (p.Leu1032=) rs2108778905
NM_147127.5(EVC2):c.3099G>A (p.Val1033=) rs2108778897
NM_147127.5(EVC2):c.309G>A (p.Leu103=)
NM_147127.5(EVC2):c.30C>A (p.Pro10=) rs1193570001
NM_147127.5(EVC2):c.3102G>A (p.Gln1034=)
NM_147127.5(EVC2):c.3135G>A (p.Ala1045=)
NM_147127.5(EVC2):c.3135G>C (p.Ala1045=) rs767047805
NM_147127.5(EVC2):c.3138C>T (p.Ser1046=)
NM_147127.5(EVC2):c.3144G>A (p.Gln1048=)
NM_147127.5(EVC2):c.3156C>G (p.Ala1052=) rs770163191
NM_147127.5(EVC2):c.3168G>A (p.Gly1056=) rs778954685
NM_147127.5(EVC2):c.3171T>A (p.Ile1057=)
NM_147127.5(EVC2):c.3172C>T (p.Leu1058=)
NM_147127.5(EVC2):c.3177C>T (p.Asn1059=)
NM_147127.5(EVC2):c.3207G>A (p.Gln1069=) rs2108778699
NM_147127.5(EVC2):c.3210C>G (p.Val1070=) rs1722925677
NM_147127.5(EVC2):c.3220C>T (p.Leu1074=) rs2108778665
NM_147127.5(EVC2):c.3225C>T (p.His1075=) rs2108778650
NM_147127.5(EVC2):c.3234G>A (p.Leu1078=)
NM_147127.5(EVC2):c.3240G>A (p.Lys1080=) rs779116122
NM_147127.5(EVC2):c.3258G>A (p.Glu1086=) rs1235779972
NM_147127.5(EVC2):c.3267G>A (p.Gln1089=)
NM_147127.5(EVC2):c.3272+15C>G
NM_147127.5(EVC2):c.3272+20G>A
NM_147127.5(EVC2):c.3272+20G>T
NM_147127.5(EVC2):c.3272+8G>T
NM_147127.5(EVC2):c.3273-19T>C
NM_147127.5(EVC2):c.3273-6C>T
NM_147127.5(EVC2):c.3273-7A>C
NM_147127.5(EVC2):c.3273-7A>G rs1382818953
NM_147127.5(EVC2):c.3273-7dup rs2108777051
NM_147127.5(EVC2):c.3273-8C>A
NM_147127.5(EVC2):c.3285A>G (p.Glu1095=) rs1462214483
NM_147127.5(EVC2):c.3300C>T (p.Val1100=) rs1577106532
NM_147127.5(EVC2):c.3303G>T (p.Val1101=)
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.3316T>C (p.Leu1106=)
NM_147127.5(EVC2):c.3330G>A (p.Glu1110=)
NM_147127.5(EVC2):c.3351G>C (p.Leu1117=) rs1722813978
NM_147127.5(EVC2):c.3360+16del
NM_147127.5(EVC2):c.3361-10T>C rs2108771027
NM_147127.5(EVC2):c.3361-11G>A rs369005788
NM_147127.5(EVC2):c.3361-14G>A
NM_147127.5(EVC2):c.3361-18C>T
NM_147127.5(EVC2):c.3361-20C>T
NM_147127.5(EVC2):c.3361-7C>T rs772860972
NM_147127.5(EVC2):c.3361-8T>A rs1358459718
NM_147127.5(EVC2):c.3367A>C (p.Arg1123=)
NM_147127.5(EVC2):c.336A>G (p.Pro112=)
NM_147127.5(EVC2):c.3370C>T (p.Leu1124=) rs1722461930
NM_147127.5(EVC2):c.3381C>T (p.Tyr1127=) rs2108770980
NM_147127.5(EVC2):c.3387G>A (p.Ala1129=) rs752793772
NM_147127.5(EVC2):c.339C>G (p.Leu113=)
NM_147127.5(EVC2):c.3414G>T (p.Thr1138=)
NM_147127.5(EVC2):c.3420C>T (p.Arg1140=)
NM_147127.5(EVC2):c.3423G>A (p.Arg1141=) rs1577099807
NM_147127.5(EVC2):c.3426C>G (p.Leu1142=)
NM_147127.5(EVC2):c.3429G>A (p.Leu1143=)
NM_147127.5(EVC2):c.3429G>C (p.Leu1143=) rs2108770885
NM_147127.5(EVC2):c.3435G>A (p.Val1145=)
NM_147127.5(EVC2):c.3441G>T (p.Leu1147=)
NM_147127.5(EVC2):c.3450C>T (p.Ala1150=)
NM_147127.5(EVC2):c.3456G>A (p.Gln1152=) rs1722452266
NM_147127.5(EVC2):c.3466C>T (p.Leu1156=) rs2108770821
NM_147127.5(EVC2):c.3471C>A (p.Ala1157=)
NM_147127.5(EVC2):c.3471C>G (p.Ala1157=) rs1722451421
NM_147127.5(EVC2):c.3472C>T (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>A (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>C (p.Leu1158=) rs760612657
NM_147127.5(EVC2):c.3475C>T (p.Leu1159=)
NM_147127.5(EVC2):c.3489C>G (p.Thr1163=) rs370368827
NM_147127.5(EVC2):c.3498T>C (p.His1166=)
NM_147127.5(EVC2):c.3501G>T (p.Val1167=)
NM_147127.5(EVC2):c.3504C>T (p.Asp1168=)
NM_147127.5(EVC2):c.3510A>G (p.Ala1170=)
NM_147127.5(EVC2):c.3525C>T (p.Gly1175=) rs767393828
NM_147127.5(EVC2):c.3531G>C (p.Ala1177=)
NM_147127.5(EVC2):c.3540C>G (p.Ala1180=) rs373829825
NM_147127.5(EVC2):c.3546G>A (p.Val1182=)
NM_147127.5(EVC2):c.3546G>C (p.Val1182=) rs2108770634
NM_147127.5(EVC2):c.354C>A (p.Ala118=)
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3552G>A (p.Arg1184=) rs1376155432
NM_147127.5(EVC2):c.3553C>A (p.Arg1185=) rs545528367
NM_147127.5(EVC2):c.3557+10G>T
NM_147127.5(EVC2):c.3557+13G>C
NM_147127.5(EVC2):c.3557+15G>A
NM_147127.5(EVC2):c.3557+15G>C
NM_147127.5(EVC2):c.3557+18G>A
NM_147127.5(EVC2):c.3557+18G>T
NM_147127.5(EVC2):c.3557+20T>C
NM_147127.5(EVC2):c.3557+9C>G
NM_147127.5(EVC2):c.3558-12T>C
NM_147127.5(EVC2):c.3558-19A>G
NM_147127.5(EVC2):c.3558-19A>T
NM_147127.5(EVC2):c.3558-4G>A rs746098929
NM_147127.5(EVC2):c.3558-4G>T
NM_147127.5(EVC2):c.3558-6C>G
NM_147127.5(EVC2):c.3558-7C>T rs2108767379
NM_147127.5(EVC2):c.3558-9del rs2108767385
NM_147127.5(EVC2):c.3564C>T (p.His1188=)
NM_147127.5(EVC2):c.3570C>T (p.Ser1190=)
NM_147127.5(EVC2):c.3588T>C (p.Asp1196=) rs1485389885
NM_147127.5(EVC2):c.3609G>A (p.Leu1203=) rs754595798
NM_147127.5(EVC2):c.3621A>G (p.Gly1207=)
NM_147127.5(EVC2):c.3634C>T (p.Leu1212=) rs1392499941
NM_147127.5(EVC2):c.3642C>G (p.Ala1214=)
NM_147127.5(EVC2):c.3642C>T (p.Ala1214=)
NM_147127.5(EVC2):c.3659+10G>T
NM_147127.5(EVC2):c.3659+12C>T
NM_147127.5(EVC2):c.3659+13A>G
NM_147127.5(EVC2):c.3659+14C>G
NM_147127.5(EVC2):c.3659+17_3659+18insGGGGA
NM_147127.5(EVC2):c.3659+20C>T
NM_147127.5(EVC2):c.3660-12C>A
NM_147127.5(EVC2):c.3660-12C>T
NM_147127.5(EVC2):c.3660-15T>C
NM_147127.5(EVC2):c.3660-18C>G
NM_147127.5(EVC2):c.3660-18C>T
NM_147127.5(EVC2):c.3660-20A>G
NM_147127.5(EVC2):c.3660-5T>C rs2108765328
NM_147127.5(EVC2):c.3660-6C>T rs1722062295
NM_147127.5(EVC2):c.3672G>A (p.Lys1224=) rs1722060400
NM_147127.5(EVC2):c.3687C>G (p.Leu1229=) rs1157926409
NM_147127.5(EVC2):c.3696G>A (p.Arg1232=) rs150551872
NM_147127.5(EVC2):c.3702A>C (p.Ile1234=) rs375566943
NM_147127.5(EVC2):c.3711A>G (p.Gly1237=) rs2108765239
NM_147127.5(EVC2):c.3726A>G (p.Pro1242=)
NM_147127.5(EVC2):c.3729C>T (p.His1243=)
NM_147127.5(EVC2):c.3730C>T (p.Leu1244=)
NM_147127.5(EVC2):c.3732G>T (p.Leu1244=) rs774269538
NM_147127.5(EVC2):c.3741G>A (p.Glu1247=)
NM_147127.5(EVC2):c.3750C>A (p.Gly1250=)
NM_147127.5(EVC2):c.3750C>G (p.Gly1250=)
NM_147127.5(EVC2):c.3762T>G (p.Pro1254=) rs1260164978
NM_147127.5(EVC2):c.3774A>C (p.Val1258=)
NM_147127.5(EVC2):c.3774A>T (p.Val1258=) rs2108765124
NM_147127.5(EVC2):c.3795A>G (p.Leu1265=)
NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)
NM_147127.5(EVC2):c.379T>C (p.Leu127=)
NM_147127.5(EVC2):c.3810G>A (p.Glu1270=)
NM_147127.5(EVC2):c.3813G>A (p.Lys1271=)
NM_147127.5(EVC2):c.3816C>G (p.Leu1272=)
NM_147127.5(EVC2):c.3819T>C (p.Phe1273=)
NM_147127.5(EVC2):c.3822A>C (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3822A>T (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3843A>G (p.Pro1281=)
NM_147127.5(EVC2):c.3849C>A (p.Ile1283=)
NM_147127.5(EVC2):c.3853C>T (p.Leu1285=) rs2108764998
NM_147127.5(EVC2):c.3855G>A (p.Leu1285=) rs1722042643
NM_147127.5(EVC2):c.3868A>C (p.Arg1290=)
NM_147127.5(EVC2):c.3870G>A (p.Arg1290=)
NM_147127.5(EVC2):c.3909G>A (p.Arg1303=) rs2108764900
NM_147127.5(EVC2):c.3912C>T (p.Ala1304=)
NM_147127.5(EVC2):c.396C>T (p.Pro132=)
NM_147127.5(EVC2):c.399C>T (p.Ser133=) rs2151736611
NM_147127.5(EVC2):c.417A>G (p.Leu139=) rs2151736587
NM_147127.5(EVC2):c.423A>G (p.Lys141=)
NM_147127.5(EVC2):c.426A>G (p.Arg142=)
NM_147127.5(EVC2):c.447C>A (p.Arg149=)
NM_147127.5(EVC2):c.447C>T (p.Arg149=)
NM_147127.5(EVC2):c.450+10_450+14del rs2151736515
NM_147127.5(EVC2):c.450+12G>A
NM_147127.5(EVC2):c.450+15C>A
NM_147127.5(EVC2):c.450+15C>G
NM_147127.5(EVC2):c.450+15C>T
NM_147127.5(EVC2):c.450+16A>G
NM_147127.5(EVC2):c.450+17A>T rs370958428
NM_147127.5(EVC2):c.450+18T>C
NM_147127.5(EVC2):c.450+8T>C
NM_147127.5(EVC2):c.450+9T>C rs2151736518
NM_147127.5(EVC2):c.451-12A>G
NM_147127.5(EVC2):c.451-13C>T
NM_147127.5(EVC2):c.451-16T>C
NM_147127.5(EVC2):c.451-17T>C
NM_147127.5(EVC2):c.451-18T>G
NM_147127.5(EVC2):c.451-7A>T
NM_147127.5(EVC2):c.451-7dup
NM_147127.5(EVC2):c.451-8T>C rs1721108385
NM_147127.5(EVC2):c.451-9T>C
NM_147127.5(EVC2):c.45C>G (p.Ala15=) rs1285560156
NM_147127.5(EVC2):c.465A>C (p.Ser155=) rs1001393610
NM_147127.5(EVC2):c.466A>C (p.Arg156=)
NM_147127.5(EVC2):c.486T>G (p.Ser162=)
NM_147127.5(EVC2):c.489A>G (p.Glu163=) rs2151733929
NM_147127.5(EVC2):c.492T>C (p.Asn164=)
NM_147127.5(EVC2):c.495A>C (p.Gly165=)
NM_147127.5(EVC2):c.498A>T (p.Val166=)
NM_147127.5(EVC2):c.516A>G (p.Ala172=)
NM_147127.5(EVC2):c.517C>T (p.Leu173=) rs2151733903
NM_147127.5(EVC2):c.519+11A>G
NM_147127.5(EVC2):c.519+20G>A
NM_147127.5(EVC2):c.519+7T>G
NM_147127.5(EVC2):c.520-10_520-8del
NM_147127.5(EVC2):c.520-13C>T
NM_147127.5(EVC2):c.520-14T>G
NM_147127.5(EVC2):c.520-18C>T rs2151731962
NM_147127.5(EVC2):c.520-19C>G
NM_147127.5(EVC2):c.520-19C>T
NM_147127.5(EVC2):c.520-4C>G
NM_147127.5(EVC2):c.520-4C>T rs764449545
NM_147127.5(EVC2):c.520-5C>T
NM_147127.5(EVC2):c.520-8T>C rs2151731945
NM_147127.5(EVC2):c.520-9C>G
NM_147127.5(EVC2):c.525T>C (p.Ser175=)
NM_147127.5(EVC2):c.531G>T (p.Ser177=) rs146658261
NM_147127.5(EVC2):c.543G>A (p.Gln181=)
NM_147127.5(EVC2):c.549C>T (p.Ala183=)
NM_147127.5(EVC2):c.54C>G (p.Leu18=)
NM_147127.5(EVC2):c.552C>T (p.Arg184=)
NM_147127.5(EVC2):c.573C>T (p.Asn191=)
NM_147127.5(EVC2):c.579G>A (p.Lys193=)
NM_147127.5(EVC2):c.57G>A (p.Leu19=)
NM_147127.5(EVC2):c.585C>T (p.Thr195=)
NM_147127.5(EVC2):c.588G>C (p.Ser196=)
NM_147127.5(EVC2):c.594C>A (p.Ala198=) rs1482138140
NM_147127.5(EVC2):c.597C>T (p.Asn199=) rs1003816966
NM_147127.5(EVC2):c.600C>T (p.Leu200=)
NM_147127.5(EVC2):c.603G>A (p.Ser201=)
NM_147127.5(EVC2):c.609G>A (p.Leu203=)
NM_147127.5(EVC2):c.60A>G (p.Ala20=)
NM_147127.5(EVC2):c.616C>T (p.Leu206=)
NM_147127.5(EVC2):c.618G>T (p.Leu206=)
NM_147127.5(EVC2):c.627T>A (p.Ile209=) rs1415784175
NM_147127.5(EVC2):c.627T>C (p.Ile209=)
NM_147127.5(EVC2):c.639C>G (p.Thr213=) rs1323570343
NM_147127.5(EVC2):c.648C>T (p.Asp216=) rs1720936758
NM_147127.5(EVC2):c.651T>A (p.Ser217=)
NM_147127.5(EVC2):c.651T>C (p.Ser217=)
NM_147127.5(EVC2):c.657A>G (p.Gly219=)
NM_147127.5(EVC2):c.660C>T (p.Asn220=)
NM_147127.5(EVC2):c.666C>T (p.Thr222=) rs372079686
NM_147127.5(EVC2):c.669G>T (p.Ser223=)
NM_147127.5(EVC2):c.684T>G (p.Ala228=) rs2151731613
NM_147127.5(EVC2):c.690C>T (p.Ser230=)
NM_147127.5(EVC2):c.696G>A (p.Lys232=)
NM_147127.5(EVC2):c.6C>T (p.Asp2=) rs939013967
NM_147127.5(EVC2):c.706+12G>A
NM_147127.5(EVC2):c.706+14G>A
NM_147127.5(EVC2):c.707-10C>G
NM_147127.5(EVC2):c.707-10C>T
NM_147127.5(EVC2):c.707-15C>G
NM_147127.5(EVC2):c.707-15C>T
NM_147127.5(EVC2):c.707-17T>G
NM_147127.5(EVC2):c.707-20A>G
NM_147127.5(EVC2):c.707-20A>T
NM_147127.5(EVC2):c.707-4G>T rs113806963
NM_147127.5(EVC2):c.707-6G>A rs2151728173
NM_147127.5(EVC2):c.707-7T>G
NM_147127.5(EVC2):c.714T>C (p.Asp238=) rs977594999
NM_147127.5(EVC2):c.717C>A (p.Ala239=) rs2151728147
NM_147127.5(EVC2):c.726C>T (p.Val242=)
NM_147127.5(EVC2):c.72G>C (p.Ala24=) rs2151750115
NM_147127.5(EVC2):c.733G>T (p.Ala245Ser) rs530937415
NM_147127.5(EVC2):c.735A>G (p.Ala245=) rs2151728120
NM_147127.5(EVC2):c.744C>T (p.Leu248=)
NM_147127.5(EVC2):c.771G>A (p.Glu257=)
NM_147127.5(EVC2):c.777C>T (p.Leu259=) rs754899418
NM_147127.5(EVC2):c.789C>A (p.Ala263=)
NM_147127.5(EVC2):c.789C>T (p.Ala263=) rs2151728052
NM_147127.5(EVC2):c.810G>A (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.810G>T (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.816+13T>C
NM_147127.5(EVC2):c.816+14T>A
NM_147127.5(EVC2):c.816+19T>C
NM_147127.5(EVC2):c.816+7C>A
NM_147127.5(EVC2):c.816+8C>G rs2151727996
NM_147127.5(EVC2):c.817-10C>A rs750153523
NM_147127.5(EVC2):c.817-12T>C
NM_147127.5(EVC2):c.817-15T>G
NM_147127.5(EVC2):c.817-17C>T
NM_147127.5(EVC2):c.817-19T>C
NM_147127.5(EVC2):c.817-19_817-18del
NM_147127.5(EVC2):c.817-5T>A
NM_147127.5(EVC2):c.817-5T>C rs2151724161
NM_147127.5(EVC2):c.817-6T>G
NM_147127.5(EVC2):c.81C>G (p.Gly27=)
NM_147127.5(EVC2):c.828G>A (p.Gln276=)
NM_147127.5(EVC2):c.829C>T (p.Leu277=) rs2151724132
NM_147127.5(EVC2):c.831G>A (p.Leu277=) rs376314429
NM_147127.5(EVC2):c.852A>C (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.852A>G (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.870+10A>G rs779971622
NM_147127.5(EVC2):c.870+14C>G
NM_147127.5(EVC2):c.870+15A>G
NM_147127.5(EVC2):c.870+20C>G
NM_147127.5(EVC2):c.870+7G>A
NM_147127.5(EVC2):c.871-10G>A
NM_147127.5(EVC2):c.871-10G>T rs1474138185
NM_147127.5(EVC2):c.871-19T>A
NM_147127.5(EVC2):c.871-4A>G
NM_147127.5(EVC2):c.871-6C>T
NM_147127.5(EVC2):c.871-9T>C
NM_147127.5(EVC2):c.879G>A (p.Pro293=)
NM_147127.5(EVC2):c.879G>T (p.Pro293=) rs150699446
NM_147127.5(EVC2):c.87C>T (p.Gly29=) rs2151750094
NM_147127.5(EVC2):c.891C>T (p.Leu297=)
NM_147127.5(EVC2):c.897A>C (p.Ala299=) rs763124334
NM_147127.5(EVC2):c.897A>G (p.Ala299=)
NM_147127.5(EVC2):c.903G>A (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.90T>C (p.Cys30=) rs1722360264
NM_147127.5(EVC2):c.927C>G (p.Ser309=) rs2108900060
NM_147127.5(EVC2):c.930T>G (p.Leu310=)
NM_147127.5(EVC2):c.939C>G (p.Thr313=)
NM_147127.5(EVC2):c.939C>T (p.Thr313=) rs1322685892
NM_147127.5(EVC2):c.93C>G (p.Leu31=)
NM_147127.5(EVC2):c.951C>T (p.Leu317=)
NM_147127.5(EVC2):c.954C>T (p.Phe318=)
NM_147127.5(EVC2):c.957C>G (p.Leu319=)
NM_147127.5(EVC2):c.966C>T (p.Arg322=)
NM_147127.5(EVC2):c.96C>T (p.Gly32=) rs1722358000
NM_147127.5(EVC2):c.981G>A (p.Lys327=) rs2108899931
NM_147127.5(EVC2):c.984A>G (p.Gly328=)
NM_147127.5(EVC2):c.987C>T (p.Asn329=) rs2108899904
NM_147127.5(EVC2):c.993C>T (p.Leu331=)
NM_147127.5(EVC2):c.996C>T (p.Thr332=)
NM_153717.3(EVC):c.1005C>T (p.Ser335=) rs895165309
NM_153717.3(EVC):c.1008C>T (p.Ser336=)
NM_153717.3(EVC):c.1017C>T (p.Ala339=)
NM_153717.3(EVC):c.1018C>A (p.Arg340=) rs121908425
NM_153717.3(EVC):c.1020A>G (p.Arg340=)
NM_153717.3(EVC):c.1026G>A (p.Leu342=)
NM_153717.3(EVC):c.102G>C (p.Leu34=)
NM_153717.3(EVC):c.1035T>C (p.Thr345=) rs2152045460
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1059C>A (p.Ala353=)
NM_153717.3(EVC):c.105C>T (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1089G>A (p.Leu363=)
NM_153717.3(EVC):c.1089G>C (p.Leu363=)
NM_153717.3(EVC):c.1098+12G>C
NM_153717.3(EVC):c.1098+13G>A
NM_153717.3(EVC):c.1098+13G>C
NM_153717.3(EVC):c.1098+15G>C
NM_153717.3(EVC):c.1098+16G>A
NM_153717.3(EVC):c.1098+16G>T
NM_153717.3(EVC):c.1098+17C>T
NM_153717.3(EVC):c.1098+18G>A
NM_153717.3(EVC):c.1098+18G>T
NM_153717.3(EVC):c.1098+20G>C
NM_153717.3(EVC):c.1098+20G>T
NM_153717.3(EVC):c.1098+8T>C
NM_153717.3(EVC):c.1098+8T>G
NM_153717.3(EVC):c.1099-10C>A rs1465530933
NM_153717.3(EVC):c.1099-14G>A
NM_153717.3(EVC):c.1099-20C>T
NM_153717.3(EVC):c.1099-21_1099-19delinsGTC rs2152075906
NM_153717.3(EVC):c.1099-21_1099-20delinsGT
NM_153717.3(EVC):c.1099-4G>A rs2152076013
NM_153717.3(EVC):c.1099-5T>C rs2152076005
NM_153717.3(EVC):c.1107G>T (p.Leu369=)
NM_153717.3(EVC):c.1113G>A (p.Arg371=)
NM_153717.3(EVC):c.1116G>A (p.Thr372=) rs781636545
NM_153717.3(EVC):c.1143G>C (p.Val381=) rs2152076257
NM_153717.3(EVC):c.1143G>T (p.Val381=)
NM_153717.3(EVC):c.114C>T (p.Leu38=) rs1167442380
NM_153717.3(EVC):c.1159C>T (p.Leu387=) rs1577439719
NM_153717.3(EVC):c.1161G>T (p.Leu387=)
NM_153717.3(EVC):c.1176G>A (p.Glu392=) rs752626166
NM_153717.3(EVC):c.1179C>G (p.Thr393=)
NM_153717.3(EVC):c.117C>A (p.Gly39=)
NM_153717.3(EVC):c.1189C>T (p.Leu397=)
NM_153717.3(EVC):c.1197C>T (p.Ala399=) rs2152076403
NM_153717.3(EVC):c.1200C>A (p.Ile400=) rs750816331
NM_153717.3(EVC):c.1203C>A (p.Ser401=)
NM_153717.3(EVC):c.1203C>T (p.Ser401=) rs867155796
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
NM_153717.3(EVC):c.120C>A (p.Leu40=) rs1407286365
NM_153717.3(EVC):c.120C>G (p.Leu40=)
NM_153717.3(EVC):c.120C>T (p.Leu40=)
NM_153717.3(EVC):c.1210C>T (p.Leu404=) rs2152076460
NM_153717.3(EVC):c.1215G>A (p.Glu405=)
NM_153717.3(EVC):c.1218G>C (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1218G>T (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1230G>A (p.Glu410=)
NM_153717.3(EVC):c.1239G>C (p.Leu413=)
NM_153717.3(EVC):c.123C>A (p.Gly41=)
NM_153717.3(EVC):c.1246C>A (p.Arg416=) rs113986714
NM_153717.3(EVC):c.1261C>T (p.Leu421=) rs775388162
NM_153717.3(EVC):c.1266C>G (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.1266C>T (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.126C>G (p.Leu42=)
NM_153717.3(EVC):c.126C>T (p.Leu42=)
NM_153717.3(EVC):c.1287C>T (p.Phe429=) rs2152076737
NM_153717.3(EVC):c.1304G>A (p.Arg435His)
NM_153717.3(EVC):c.1311C>T (p.Ser437=)
NM_153717.3(EVC):c.1312C>A (p.Arg438=)
NM_153717.3(EVC):c.1315+11G>C
NM_153717.3(EVC):c.1315+14A>G
NM_153717.3(EVC):c.1315+16_1315+27del
NM_153717.3(EVC):c.1315+8G>T
NM_153717.3(EVC):c.1316-14T>C
NM_153717.3(EVC):c.1316-20G>A
NM_153717.3(EVC):c.1316-20G>T
NM_153717.3(EVC):c.1316-4C>T
NM_153717.3(EVC):c.1327C>A (p.Arg443=)
NM_153717.3(EVC):c.1344C>T (p.Val448=) rs2152081344
NM_153717.3(EVC):c.1347G>A (p.Thr449=)
NM_153717.3(EVC):c.1383A>G (p.Lys461=)
NM_153717.3(EVC):c.1398A>G (p.Gln466=)
NM_153717.3(EVC):c.1404G>A (p.Glu468=)
NM_153717.3(EVC):c.1407A>G (p.Glu469=) rs755691949
NM_153717.3(EVC):c.1425T>C (p.Ala475=) rs2152081868
NM_153717.3(EVC):c.1428G>A (p.Glu476=)
NM_153717.3(EVC):c.1434G>A (p.Gln478=)
NM_153717.3(EVC):c.1437G>A (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1437G>T (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1440T>C (p.Thr480=)
NM_153717.3(EVC):c.1449G>A (p.Pro483=)
NM_153717.3(EVC):c.1452A>G (p.Glu484=)
NM_153717.3(EVC):c.1464+12C>A
NM_153717.3(EVC):c.1464+12C>G rs753296851
NM_153717.3(EVC):c.1464+19C>T
NM_153717.3(EVC):c.1464+7C>G
NM_153717.3(EVC):c.1464+8A>T rs116236414
NM_153717.3(EVC):c.1465-12T>G
NM_153717.3(EVC):c.1465-13G>A
NM_153717.3(EVC):c.1465-15_1465-14del
NM_153717.3(EVC):c.1465-15_1465-14dup
NM_153717.3(EVC):c.1465-18C>T
NM_153717.3(EVC):c.1465-4A>G
NM_153717.3(EVC):c.1465-5C>A
NM_153717.3(EVC):c.1465-7C>T
NM_153717.3(EVC):c.1465-8C>T
NM_153717.3(EVC):c.1465-9T>C
NM_153717.3(EVC):c.1473T>C (p.His491=)
NM_153717.3(EVC):c.1479C>T (p.Val493=)
NM_153717.3(EVC):c.147C>A (p.Arg49=) rs1723020172
NM_153717.3(EVC):c.1482G>C (p.Leu494=)
NM_153717.3(EVC):c.1494G>A (p.Arg498=)
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
NM_153717.3(EVC):c.14G>T (p.Gly5Val)
NM_153717.3(EVC):c.150G>C (p.Ala50=) rs1257185745
NM_153717.3(EVC):c.1512G>A (p.Leu504=)
NM_153717.3(EVC):c.1524G>A (p.Glu508=) rs2152094941
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1530C>G (p.Val510=)
NM_153717.3(EVC):c.1531A>C (p.Arg511=) rs2152094988
NM_153717.3(EVC):c.1563+10C>T rs2152095141
NM_153717.3(EVC):c.1563+13T>C
NM_153717.3(EVC):c.1563+14G>A
NM_153717.3(EVC):c.1563+14G>C
NM_153717.3(EVC):c.1563+15T>G
NM_153717.3(EVC):c.1563+16G>A
NM_153717.3(EVC):c.1563+19G>A
NM_153717.3(EVC):c.1563+7G>A
NM_153717.3(EVC):c.1564-10T>G
NM_153717.3(EVC):c.1564-11C>G
NM_153717.3(EVC):c.1564-11C>T
NM_153717.3(EVC):c.1564-15G>T
NM_153717.3(EVC):c.1564-19C>G
NM_153717.3(EVC):c.1564-7G>C
NM_153717.3(EVC):c.1564-7G>T
NM_153717.3(EVC):c.1564-9C>T rs1361893356
NM_153717.3(EVC):c.1569G>C (p.Leu523=)
NM_153717.3(EVC):c.1572C>T (p.Tyr524=) rs1735952327
NM_153717.3(EVC):c.1578C>T (p.Ser526=)
NM_153717.3(EVC):c.1593C>T (p.Phe531=) rs771775185
NM_153717.3(EVC):c.159G>A (p.Gln53=)
NM_153717.3(EVC):c.1605G>A (p.Val535=)
NM_153717.3(EVC):c.1611C>T (p.Ala537=) rs765193502
NM_153717.3(EVC):c.1612C>T (p.Leu538=)
NM_153717.3(EVC):c.1623G>A (p.Gln541=) rs2152288778
NM_153717.3(EVC):c.1626G>A (p.Thr542=)
NM_153717.3(EVC):c.1629C>G (p.Leu543=) rs1735963741
NM_153717.3(EVC):c.1635C>T (p.Gly545=) rs781699320
NM_153717.3(EVC):c.1641T>C (p.Thr547=) rs2152288859
NM_153717.3(EVC):c.1647C>A (p.Leu549=) rs756674302
NM_153717.3(EVC):c.1647C>G (p.Leu549=)
NM_153717.3(EVC):c.1650C>A (p.Pro550=) rs1187336928
NM_153717.3(EVC):c.1656A>G (p.Glu552=)
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
NM_153717.3(EVC):c.1662T>C (p.Cys554=) rs2152288989
NM_153717.3(EVC):c.1665C>T (p.Asp555=)
NM_153717.3(EVC):c.1677G>A (p.Gln559=)
NM_153717.3(EVC):c.1683C>A (p.Val561=)
NM_153717.3(EVC):c.1683C>G (p.Val561=) rs913909906
NM_153717.3(EVC):c.1689G>A (p.Glu563=)
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1698C>G (p.Ala566=) rs911132556
NM_153717.3(EVC):c.1725C>T (p.Phe575=)
NM_153717.3(EVC):c.1737G>A (p.Gln579=) rs768788576
NM_153717.3(EVC):c.174+11C>G
NM_153717.3(EVC):c.174+12G>A
NM_153717.3(EVC):c.174+14G>A
NM_153717.3(EVC):c.174+16_174+30del
NM_153717.3(EVC):c.174+17G>T
NM_153717.3(EVC):c.174+7C>G
NM_153717.3(EVC):c.174+7C>T rs1577297959
NM_153717.3(EVC):c.174+8G>C
NM_153717.3(EVC):c.1743A>G (p.Lys581=)
NM_153717.3(EVC):c.1746C>A (p.Leu582=) rs1029833383
NM_153717.3(EVC):c.175-19C>G
NM_153717.3(EVC):c.175-19C>T
NM_153717.3(EVC):c.175-20T>C
NM_153717.3(EVC):c.175-9G>C rs753317536
NM_153717.3(EVC):c.1761A>C (p.Leu587=)
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1776+8C>G rs761163369
NM_153717.3(EVC):c.1776+8C>T
NM_153717.3(EVC):c.1776+9A>G rs2152289531
NM_153717.3(EVC):c.1777-13G>C
NM_153717.3(EVC):c.1777-15C>G
NM_153717.3(EVC):c.1777-17C>G
NM_153717.3(EVC):c.1777-19C>T
NM_153717.3(EVC):c.1777-9C>G
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1779G>A (p.Val593=)
NM_153717.3(EVC):c.1788G>A (p.Glu596=) rs2152326451
NM_153717.3(EVC):c.1791G>A (p.Glu597=) rs1577599969
NM_153717.3(EVC):c.1800G>C (p.Leu600=) rs1713204688
NM_153717.3(EVC):c.1800G>T (p.Leu600=)
NM_153717.3(EVC):c.1803C>T (p.Ser601=) rs2152326514
NM_153717.3(EVC):c.1809G>A (p.Val603=)
NM_153717.3(EVC):c.1812G>A (p.Leu604=)
NM_153717.3(EVC):c.1821C>T (p.His607=) rs779056864
NM_153717.3(EVC):c.1825C>A (p.Arg609=)
NM_153717.3(EVC):c.1827G>A (p.Arg609=)
NM_153717.3(EVC):c.1830G>A (p.Glu610=)
NM_153717.3(EVC):c.1851C>A (p.Arg617=)
NM_153717.3(EVC):c.1851C>T (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1857C>G (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1857C>T (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1886+11C>T
NM_153717.3(EVC):c.1886+13C>T
NM_153717.3(EVC):c.1886+16T>C
NM_153717.3(EVC):c.1886+17G>C
NM_153717.3(EVC):c.1886+7A>G rs2152326793
NM_153717.3(EVC):c.1887-19T>G
NM_153717.3(EVC):c.1887-4A>C rs2152340153
NM_153717.3(EVC):c.1887-5C>T
NM_153717.3(EVC):c.1890C>T (p.Ser630=) rs2152340181
NM_153717.3(EVC):c.1893G>A (p.Thr631=) rs1017858503
NM_153717.3(EVC):c.1893G>T (p.Thr631=) rs1017858503
NM_153717.3(EVC):c.1896G>C (p.Arg632=) rs758327867
NM_153717.3(EVC):c.1905G>T (p.Leu635=) rs777640312
NM_153717.3(EVC):c.1917C>T (p.Asp639=) rs1242667817
NM_153717.3(EVC):c.1923G>A (p.Leu641=)
NM_153717.3(EVC):c.1926G>A (p.Leu642=) rs1191617444
NM_153717.3(EVC):c.1935C>T (p.Ala645=) rs1412137397
NM_153717.3(EVC):c.1938C>T (p.Leu646=)
NM_153717.3(EVC):c.1939C>A (p.Arg647=)
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1941G>A (p.Arg647=)
NM_153717.3(EVC):c.1944G>A (p.Arg648=) rs1577616662
NM_153717.3(EVC):c.195G>T (p.Leu65=)
NM_153717.3(EVC):c.1965C>A (p.Ala655=) rs757251724
NM_153717.3(EVC):c.1966C>T (p.Leu656=) rs2152340488
NM_153717.3(EVC):c.1968G>A (p.Leu656=)
NM_153717.3(EVC):c.1971C>T (p.Ala657=) rs2152340517
NM_153717.3(EVC):c.1983G>A (p.Gln661=)
NM_153717.3(EVC):c.198C>T (p.Leu66=)
NM_153717.3(EVC):c.1995G>T (p.Ser665=) rs142897994
NM_153717.3(EVC):c.1998G>A (p.Gly666=) rs772759204
NM_153717.3(EVC):c.2004G>A (p.Lys668=) rs759187395
NM_153717.3(EVC):c.2013G>A (p.Leu671=)
NM_153717.3(EVC):c.2019G>A (p.Glu673=)
NM_153717.3(EVC):c.2023C>A (p.Arg675=) rs372267517
NM_153717.3(EVC):c.2025G>T (p.Arg675=) rs1714120141
NM_153717.3(EVC):c.2043G>A (p.Glu681=)
NM_153717.3(EVC):c.2055C>T (p.Ser685=)
NM_153717.3(EVC):c.205T>C (p.Leu69=)
NM_153717.3(EVC):c.2067C>T (p.Asp689=) rs768403488
NM_153717.3(EVC):c.2076G>A (p.Gln692=) rs1714131544
NM_153717.3(EVC):c.207G>A (p.Leu69=) rs2151841946
NM_153717.3(EVC):c.2085G>C (p.Leu695=)
NM_153717.3(EVC):c.2094C>A (p.Ala698=)
NM_153717.3(EVC):c.2094C>G (p.Ala698=)
NM_153717.3(EVC):c.2094C>T (p.Ala698=)
NM_153717.3(EVC):c.2097+10G>T
NM_153717.3(EVC):c.2097+12A>G rs112766640
NM_153717.3(EVC):c.2098-13C>G
NM_153717.3(EVC):c.2098-20C>T
NM_153717.3(EVC):c.2098-5C>G rs747808287
NM_153717.3(EVC):c.2098-7C>G rs1448028337
NM_153717.3(EVC):c.2098-8C>T rs1560427583
NM_153717.3(EVC):c.2110C>T (p.Leu704=) rs1714403171
NM_153717.3(EVC):c.2112G>A (p.Leu704=)
NM_153717.3(EVC):c.2115G>A (p.Glu705=)
NM_153717.3(EVC):c.2118G>A (p.Glu706=)
NM_153717.3(EVC):c.2127G>A (p.Arg709=)
NM_153717.3(EVC):c.213T>C (p.Ser71=)
NM_153717.3(EVC):c.2152C>A (p.Arg718=) rs778287269
NM_153717.3(EVC):c.2154G>A (p.Arg718=) rs1714415040
NM_153717.3(EVC):c.2154G>T (p.Arg718=)
NM_153717.3(EVC):c.2155C>T (p.Leu719=) rs1236823435
NM_153717.3(EVC):c.2157G>A (p.Leu719=) rs1024015517
NM_153717.3(EVC):c.2187C>A (p.Ala729=)
NM_153717.3(EVC):c.2196G>A (p.Val732=)
NM_153717.3(EVC):c.2199G>A (p.Gly733=)
NM_153717.3(EVC):c.2199G>C (p.Gly733=)
NM_153717.3(EVC):c.219G>T (p.Ala73=)
NM_153717.3(EVC):c.21C>G (p.Ala7=)
NM_153717.3(EVC):c.2208G>A (p.Leu736=) rs2152345788
NM_153717.3(EVC):c.2217C>T (p.His739=) rs2152345808
NM_153717.3(EVC):c.221_222delinsCA (p.Gln74Pro)
NM_153717.3(EVC):c.222G>A (p.Gln74=)
NM_153717.3(EVC):c.2238G>A (p.Gln746=)
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
NM_153717.3(EVC):c.2247G>A (p.Leu749=)
NM_153717.3(EVC):c.2256A>G (p.Ala752=) rs746682279
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)
NM_153717.3(EVC):c.225C>A (p.Thr75=)
NM_153717.3(EVC):c.225C>G (p.Thr75=)
NM_153717.3(EVC):c.2262T>C (p.Asn754=) rs1714441484
NM_153717.3(EVC):c.2265A>C (p.Ala755=)
NM_153717.3(EVC):c.2271C>A (p.Thr757=) rs918804667
NM_153717.3(EVC):c.2274G>A (p.Lys758=) rs199611644
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
NM_153717.3(EVC):c.2289C>T (p.Asp763=) rs2152346031
NM_153717.3(EVC):c.228C>G (p.Pro76=)
NM_153717.3(EVC):c.2295T>C (p.Asp765=) rs2152346059
NM_153717.3(EVC):c.2304+10G>C
NM_153717.3(EVC):c.2304+10G>T
NM_153717.3(EVC):c.2304+15_2304+16del
NM_153717.3(EVC):c.2304+19C>T
NM_153717.3(EVC):c.2304+8C>G
NM_153717.3(EVC):c.2304+9T>A rs2152346132
NM_153717.3(EVC):c.2305-13T>C
NM_153717.3(EVC):c.2305-15C>T
NM_153717.3(EVC):c.2305-17T>C
NM_153717.3(EVC):c.2305-19C>A
NM_153717.3(EVC):c.2305-19C>T
NM_153717.3(EVC):c.2305-8_2305-7delinsCT rs2152361700
NM_153717.3(EVC):c.2307G>A (p.Arg769=)
NM_153717.3(EVC):c.2310A>T (p.Thr770=)
NM_153717.3(EVC):c.2311C>T (p.Leu771=) rs763546632
NM_153717.3(EVC):c.2319G>A (p.Glu773=)
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2328G>C (p.Val776=) rs913233513
NM_153717.3(EVC):c.2335G>A (p.Val779Ile) rs376396220
NM_153717.3(EVC):c.2340C>T (p.Tyr780=)
NM_153717.3(EVC):c.2346C>T (p.Thr782=)
NM_153717.3(EVC):c.2361C>T (p.Ser787=) rs1412709981
NM_153717.3(EVC):c.2367G>A (p.Leu789=)
NM_153717.3(EVC):c.2370G>A (p.Val790=)
NM_153717.3(EVC):c.2376G>C (p.Ala792=) rs1005244629
NM_153717.3(EVC):c.2388A>G (p.Gln796=)
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2409C>T (p.Asp803=)
NM_153717.3(EVC):c.2434C>T (p.Leu812=) rs1161329338
NM_153717.3(EVC):c.243C>G (p.Ser81=)
NM_153717.3(EVC):c.2442C>T (p.Thr814=)
NM_153717.3(EVC):c.2445G>A (p.Leu815=)
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>G
NM_153717.3(EVC):c.2449+10C>T rs758387379
NM_153717.3(EVC):c.2449+12C>T
NM_153717.3(EVC):c.2449+13C>G
NM_153717.3(EVC):c.2449+13C>T
NM_153717.3(EVC):c.2449+14C>A rs374386522
NM_153717.3(EVC):c.2449+14C>G rs374386522
NM_153717.3(EVC):c.2449+14C>T rs374386522
NM_153717.3(EVC):c.2449+15C>G
NM_153717.3(EVC):c.2449+15_2449+16insA
NM_153717.3(EVC):c.2449+9C>A
NM_153717.3(EVC):c.2450-16G>A
NM_153717.3(EVC):c.2450-18C>T
NM_153717.3(EVC):c.2450-4C>T rs1273594861
NM_153717.3(EVC):c.2450-7_2450-5dup rs2152375058
NM_153717.3(EVC):c.2450-8T>C rs1715583083
NM_153717.3(EVC):c.2454G>A (p.Glu818=) rs775144960
NM_153717.3(EVC):c.2463A>G (p.Glu821=) rs762865760
NM_153717.3(EVC):c.2484G>A (p.Lys828=) rs2152375180
NM_153717.3(EVC):c.2487A>G (p.Gln829=) rs1439220731
NM_153717.3(EVC):c.2499C>T (p.Asn833=) rs2152375210
NM_153717.3(EVC):c.24C>T (p.Cys8=)
NM_153717.3(EVC):c.2508G>A (p.Ser836=)
NM_153717.3(EVC):c.2514C>T (p.Ser838=)
NM_153717.3(EVC):c.2520G>C (p.Thr840=) rs187406722
NM_153717.3(EVC):c.2523A>C (p.Ala841=)
NM_153717.3(EVC):c.2547G>A (p.Gln849=) rs2152375378
NM_153717.3(EVC):c.2550G>T (p.Ala850=) rs754053651
NM_153717.3(EVC):c.2553C>T (p.Val851=) rs2152375406
NM_153717.3(EVC):c.2556C>T (p.His852=)
NM_153717.3(EVC):c.2561+10C>A
NM_153717.3(EVC):c.2561+11A>C
NM_153717.3(EVC):c.2561+12A>C
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2561+13C>A
NM_153717.3(EVC):c.2561+18G>A
NM_153717.3(EVC):c.2561+8C>T
NM_153717.3(EVC):c.2562-13_2562-12delinsCC rs2152387572
NM_153717.3(EVC):c.2562-18del
NM_153717.3(EVC):c.2562-19C>G
NM_153717.3(EVC):c.2562-20G>T
NM_153717.3(EVC):c.2562-4C>A rs60082311
NM_153717.3(EVC):c.2562-4C>T rs60082311
NM_153717.3(EVC):c.2562-5C>A rs747812027
NM_153717.3(EVC):c.2562-6C>T rs1480753304
NM_153717.3(EVC):c.2566C>T (p.Leu856=)
NM_153717.3(EVC):c.2577G>A (p.Gln859=)
NM_153717.3(EVC):c.2580G>A (p.Lys860=) rs1264987350
NM_153717.3(EVC):c.2592C>G (p.Ala864=) rs2152387719
NM_153717.3(EVC):c.2601A>C (p.Pro867=)
NM_153717.3(EVC):c.2607C>T (p.His869=) rs774624157
NM_153717.3(EVC):c.2610G>A (p.Gln870=) rs2152387774
NM_153717.3(EVC):c.2613G>A (p.Gln871=)
NM_153717.3(EVC):c.2619T>A (p.Arg873=) rs1716320466
NM_153717.3(EVC):c.2620C>T (p.Leu874=)
NM_153717.3(EVC):c.2622G>T (p.Leu874=) rs1399378301
NM_153717.3(EVC):c.2631G>A (p.Gln877=)
NM_153717.3(EVC):c.2637G>A (p.Gln879=)
NM_153717.3(EVC):c.2643A>C (p.Ala881=)
NM_153717.3(EVC):c.2643A>G (p.Ala881=)
NM_153717.3(EVC):c.264A>G (p.Arg88=) rs1176423250
NM_153717.3(EVC):c.2664A>G (p.Glu888=) rs1161036004
NM_153717.3(EVC):c.2676G>A (p.Glu892=) rs761201243
NM_153717.3(EVC):c.2685A>G (p.Leu895=) rs2152387981
NM_153717.3(EVC):c.2688+11C>A
NM_153717.3(EVC):c.2688+11C>T
NM_153717.3(EVC):c.2688+19G>A
NM_153717.3(EVC):c.2688+8_2688+13del rs2152388021
NM_153717.3(EVC):c.2689-11_2689-8del
NM_153717.3(EVC):c.2689-16T>C
NM_153717.3(EVC):c.2689-19C>T
NM_153717.3(EVC):c.2689-20C>A
NM_153717.3(EVC):c.2689-8C>G
NM_153717.3(EVC):c.2709C>A (p.Ile903=) rs774968451
NM_153717.3(EVC):c.2709C>T (p.Ile903=) rs774968451
NM_153717.3(EVC):c.270G>A (p.Val90=)
NM_153717.3(EVC):c.2733A>C (p.Arg911=) rs1478690927
NM_153717.3(EVC):c.2733A>G (p.Arg911=)
NM_153717.3(EVC):c.2739C>A (p.Pro913=)
NM_153717.3(EVC):c.2739C>G (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2739C>T (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2757G>T (p.Leu919=) rs1219650896
NM_153717.3(EVC):c.2763T>C (p.Pro921=)
NM_153717.3(EVC):c.2775G>A (p.Gly925=)
NM_153717.3(EVC):c.2775G>C (p.Gly925=)
NM_153717.3(EVC):c.2782+12A>G
NM_153717.3(EVC):c.2782+13T>A rs2152392158
NM_153717.3(EVC):c.2782+15C>T
NM_153717.3(EVC):c.2782+15_2782+18dup
NM_153717.3(EVC):c.2782+19A>T
NM_153717.3(EVC):c.2782+7C>A rs1241416600
NM_153717.3(EVC):c.2782+8A>G rs760124824
NM_153717.3(EVC):c.2783-11G>A
NM_153717.3(EVC):c.2783-11del
NM_153717.3(EVC):c.2783-4A>G
NM_153717.3(EVC):c.2790C>A (p.Pro930=)
NM_153717.3(EVC):c.2793A>C (p.Leu931=)
NM_153717.3(EVC):c.2793A>G (p.Leu931=)
NM_153717.3(EVC):c.2796G>A (p.Arg932=)
NM_153717.3(EVC):c.2799T>G (p.Thr933=)
NM_153717.3(EVC):c.279G>C (p.Ser93=)
NM_153717.3(EVC):c.27G>A (p.Lys9=)
NM_153717.3(EVC):c.2814C>G (p.Pro938=)
NM_153717.3(EVC):c.2814C>T (p.Pro938=)
NM_153717.3(EVC):c.2817G>T (p.Leu939=) rs1716697966
NM_153717.3(EVC):c.2820C>G (p.Pro940=)
NM_153717.3(EVC):c.2835C>T (p.Asp945=) rs2152394497
NM_153717.3(EVC):c.2838G>A (p.Leu946=)
NM_153717.3(EVC):c.2838G>C (p.Leu946=)
NM_153717.3(EVC):c.2844G>T (p.Val948=)
NM_153717.3(EVC):c.2853T>C (p.Asn951=) rs371561252
NM_153717.3(EVC):c.2859C>T (p.Asp953=)
NM_153717.3(EVC):c.2862T>A (p.Leu954=) rs2152394578
NM_153717.3(EVC):c.2865C>T (p.Ala955=) rs1333691963
NM_153717.3(EVC):c.2883A>G (p.Ser961=) rs1248488328
NM_153717.3(EVC):c.2886C>G (p.Gly962=)
NM_153717.3(EVC):c.2889A>G (p.Ser963=) rs2152394684
NM_153717.3(EVC):c.288G>A (p.Lys96=) rs1577324357
NM_153717.3(EVC):c.2892C>A (p.Leu964=)
NM_153717.3(EVC):c.2894+11G>T
NM_153717.3(EVC):c.2894+12C>T
NM_153717.3(EVC):c.2894+14C>T
NM_153717.3(EVC):c.2894+15C>T
NM_153717.3(EVC):c.2894+16G>A
NM_153717.3(EVC):c.2894+18A>T
NM_153717.3(EVC):c.2894+7C>G rs2152394737
NM_153717.3(EVC):c.2894+8T>C
NM_153717.3(EVC):c.2895-12C>G
NM_153717.3(EVC):c.2895-12_2895-10del
NM_153717.3(EVC):c.2895-16del rs761097524
NM_153717.3(EVC):c.2895-20C>A
NM_153717.3(EVC):c.2895-20C>T
NM_153717.3(EVC):c.2895-5T>C
NM_153717.3(EVC):c.2895-8_2895-4del
NM_153717.3(EVC):c.2898C>T (p.Ser966=) rs1716824868
NM_153717.3(EVC):c.2913G>A (p.Gln971=) rs370649784
NM_153717.3(EVC):c.2916A>G (p.Gln972=) rs1285231247
NM_153717.3(EVC):c.2922T>C (p.Ser974=) rs2152396440
NM_153717.3(EVC):c.2925A>G (p.Glu975=) rs1399872123
NM_153717.3(EVC):c.2928T>A (p.Ala976=)
NM_153717.3(EVC):c.2931G>T (p.Gly977=)
NM_153717.3(EVC):c.2934C>T (p.Asp978=) rs1241792860
NM_153717.3(EVC):c.2946A>G (p.Ser982=) rs1388651029
NM_153717.3(EVC):c.2973C>T (p.Asn991=)
NM_153717.3(EVC):c.2976G>A (p.Leu992=) rs1577673719
NM_153717.3(EVC):c.2979G>A (p.Ter993=) rs767957964
NM_153717.3(EVC):c.297T>G (p.Val99=)
NM_153717.3(EVC):c.300+14T>G
NM_153717.3(EVC):c.300+17T>G
NM_153717.3(EVC):c.300+19T>C
NM_153717.3(EVC):c.300+20T>C
NM_153717.3(EVC):c.300+24_300+27del
NM_153717.3(EVC):c.300+7T>A
NM_153717.3(EVC):c.301-10dup
NM_153717.3(EVC):c.301-13C>G
NM_153717.3(EVC):c.301-7C>T rs764925850
NM_153717.3(EVC):c.301-9C>G rs1726395310
NM_153717.3(EVC):c.312G>T (p.Pro104=)
NM_153717.3(EVC):c.31G>A (p.Asp11Asn)
NM_153717.3(EVC):c.333A>G (p.Thr111=)
NM_153717.3(EVC):c.333A>T (p.Thr111=)
NM_153717.3(EVC):c.354A>G (p.Lys118=) rs2151919308
NM_153717.3(EVC):c.360C>A (p.Ile120=) rs2151919327
NM_153717.3(EVC):c.37C>T (p.Arg13Trp)
NM_153717.3(EVC):c.384+10C>G
NM_153717.3(EVC):c.384+10C>T
NM_153717.3(EVC):c.384+10_384+12dup rs2151919610
NM_153717.3(EVC):c.384+10del
NM_153717.3(EVC):c.384+12G>C rs1192867917
NM_153717.3(EVC):c.384+15C>G
NM_153717.3(EVC):c.385-13A>G
NM_153717.3(EVC):c.385-20G>A
NM_153717.3(EVC):c.385-20G>T
NM_153717.3(EVC):c.385-6C>T rs1167563102
NM_153717.3(EVC):c.385-7A>T
NM_153717.3(EVC):c.390G>T (p.Leu130=) rs2151934901
NM_153717.3(EVC):c.393C>G (p.Ala131=)
NM_153717.3(EVC):c.393C>T (p.Ala131=) rs374197757
NM_153717.3(EVC):c.399C>T (p.Gly133=)
NM_153717.3(EVC):c.39G>A (p.Arg13=) rs1479357518
NM_153717.3(EVC):c.402C>T (p.Ser134=)
NM_153717.3(EVC):c.405C>T (p.Ser135=) rs2151934982
NM_153717.3(EVC):c.411G>T (p.Pro137=)
NM_153717.3(EVC):c.414T>C (p.Ser138=)
NM_153717.3(EVC):c.417G>T (p.Leu139=)
NM_153717.3(EVC):c.42G>A (p.Leu14=) rs1213156946
NM_153717.3(EVC):c.435G>A (p.Gln145=)
NM_153717.3(EVC):c.438T>C (p.Ala146=)
NM_153717.3(EVC):c.438T>G (p.Ala146=) rs200690823
NM_153717.3(EVC):c.441T>G (p.Val147=) rs1192506036
NM_153717.3(EVC):c.456G>C (p.Pro152=)
NM_153717.3(EVC):c.456G>T (p.Pro152=)
NM_153717.3(EVC):c.459A>G (p.Val153=)
NM_153717.3(EVC):c.462G>A (p.Glu154=) rs1019139111
NM_153717.3(EVC):c.465C>G (p.Ala155=) rs146706283
NM_153717.3(EVC):c.477C>T (p.Ser159=) rs2151935441
NM_153717.3(EVC):c.480T>C (p.Ser160=) rs2151935461
NM_153717.3(EVC):c.489C>T (p.Ser163=)
NM_153717.3(EVC):c.48G>A (p.Leu16=)
NM_153717.3(EVC):c.492G>A (p.Leu164=)
NM_153717.3(EVC):c.507G>A (p.Lys169=)
NM_153717.3(EVC):c.528C>G (p.Ser176=)
NM_153717.3(EVC):c.528C>T (p.Ser176=) rs532386294
NM_153717.3(EVC):c.531C>T (p.Ser177=) rs542910336
NM_153717.3(EVC):c.537C>T (p.His179=)
NM_153717.3(EVC):c.540G>T (p.Ser180=)
NM_153717.3(EVC):c.54G>C (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.54G>T (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.564C>G (p.Leu188=)
NM_153717.3(EVC):c.573C>G (p.Thr191=)
NM_153717.3(EVC):c.579C>T (p.Leu193=)
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.591C>G (p.Ala197=)
NM_153717.3(EVC):c.594C>T (p.Phe198=) rs1224007808
NM_153717.3(EVC):c.597T>C (p.Pro199=)
NM_153717.3(EVC):c.603G>A (p.Val201=) rs2151936107
NM_153717.3(EVC):c.604C>T (p.Leu202=)
NM_153717.3(EVC):c.609C>T (p.Ala203=) rs2151936137
NM_153717.3(EVC):c.60G>C (p.Ala20=)
NM_153717.3(EVC):c.617+11C>T
NM_153717.3(EVC):c.617+12G>A
NM_153717.3(EVC):c.617+14G>T
NM_153717.3(EVC):c.617+15C>A
NM_153717.3(EVC):c.617+15C>T
NM_153717.3(EVC):c.617+18T>C
NM_153717.3(EVC):c.617+18T>G
NM_153717.3(EVC):c.617+19G>A
NM_153717.3(EVC):c.617+20G>T
NM_153717.3(EVC):c.618-13T>A
NM_153717.3(EVC):c.618-14A>C rs767274362
NM_153717.3(EVC):c.618-15C>T
NM_153717.3(EVC):c.618-18T>G
NM_153717.3(EVC):c.618-19T>C
NM_153717.3(EVC):c.618-9A>T rs2151945814
NM_153717.3(EVC):c.630C>T (p.Asp210=) rs1339867475
NM_153717.3(EVC):c.633G>T (p.Leu211=)
NM_153717.3(EVC):c.636T>C (p.Cys212=) rs2151945944
NM_153717.3(EVC):c.642C>T (p.Tyr214=) rs2151945971
NM_153717.3(EVC):c.64C>A (p.Arg22=) rs1267604048
NM_153717.3(EVC):c.651C>T (p.His217=)
NM_153717.3(EVC):c.666G>A (p.Leu222=) rs1560299816
NM_153717.3(EVC):c.66G>A (p.Arg22=)
NM_153717.3(EVC):c.66G>C (p.Arg22=)
NM_153717.3(EVC):c.678G>A (p.Thr226=)
NM_153717.3(EVC):c.678G>C (p.Thr226=) rs772621806
NM_153717.3(EVC):c.681A>G (p.Ala227=)
NM_153717.3(EVC):c.69G>A (p.Pro23=) rs1722996127
NM_153717.3(EVC):c.702+10G>T
NM_153717.3(EVC):c.702+12T>C
NM_153717.3(EVC):c.702+13G>A
NM_153717.3(EVC):c.702+15T>C
NM_153717.3(EVC):c.702+17G>A
NM_153717.3(EVC):c.702+18C>T
NM_153717.3(EVC):c.702+9A>T rs1415648336
NM_153717.3(EVC):c.703-10T>G rs1231822006
NM_153717.3(EVC):c.703-13T>A
NM_153717.3(EVC):c.703-15C>T
NM_153717.3(EVC):c.703-17T>C
NM_153717.3(EVC):c.703-19T>G
NM_153717.3(EVC):c.703-20C>T
NM_153717.3(EVC):c.703-5_703-4dup
NM_153717.3(EVC):c.703-7G>A rs2152000339
NM_153717.3(EVC):c.703-8G>C
NM_153717.3(EVC):c.729C>T (p.Cys243=)
NM_153717.3(EVC):c.72G>C (p.Ala24=)
NM_153717.3(EVC):c.72G>T (p.Ala24=)
NM_153717.3(EVC):c.732C>T (p.Leu244=) rs1035355173
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
NM_153717.3(EVC):c.73C>T (p.Pro25Ser)
NM_153717.3(EVC):c.747T>A (p.Pro249=)
NM_153717.3(EVC):c.75C>A (p.Pro25=)
NM_153717.3(EVC):c.75C>G (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.75C>T (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.765T>C (p.Asp255=) rs2152000814
NM_153717.3(EVC):c.768A>G (p.Glu256=) rs2152000830
NM_153717.3(EVC):c.786T>C (p.Leu262=)
NM_153717.3(EVC):c.792A>G (p.Lys264=) rs2152001052
NM_153717.3(EVC):c.801+12A>G
NM_153717.3(EVC):c.801+13C>T rs545838582
NM_153717.3(EVC):c.801+14C>A
NM_153717.3(EVC):c.801+16A>T
NM_153717.3(EVC):c.801+16_801+17del
NM_153717.3(EVC):c.802-12_802-8del rs753304898
NM_153717.3(EVC):c.802-17TTC[3] rs370315662
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_153717.3(EVC):c.802-18T>C
NM_153717.3(EVC):c.802-19T>C
NM_153717.3(EVC):c.802-6C>T rs773954366
NM_153717.3(EVC):c.802-9C>A rs1309092985
NM_153717.3(EVC):c.802-9C>T rs1309092985
NM_153717.3(EVC):c.807G>A (p.Leu269=)
NM_153717.3(EVC):c.813A>G (p.Glu271=)
NM_153717.3(EVC):c.81G>T (p.Leu27=) rs2151767494
NM_153717.3(EVC):c.822G>A (p.Lys274=)
NM_153717.3(EVC):c.82C>T (p.Leu28=)
NM_153717.3(EVC):c.831G>A (p.Gln277=) rs2152027341
NM_153717.3(EVC):c.834C>T (p.Val278=) rs575589201
NM_153717.3(EVC):c.843A>G (p.Ser281=) rs2152027396
NM_153717.3(EVC):c.846C>T (p.Asn282=)
NM_153717.3(EVC):c.84G>A (p.Leu28=)
NM_153717.3(EVC):c.858G>T (p.Ser286=)
NM_153717.3(EVC):c.861G>A (p.Gly287=)
NM_153717.3(EVC):c.870C>T (p.Asp290=)
NM_153717.3(EVC):c.873T>A (p.Ser291=) rs1577407384
NM_153717.3(EVC):c.879C>T (p.Tyr293=)
NM_153717.3(EVC):c.87C>G (p.Ala29=)
NM_153717.3(EVC):c.87C>T (p.Ala29=)
NM_153717.3(EVC):c.891T>A (p.Ala297=)
NM_153717.3(EVC):c.891T>C (p.Ala297=)
NM_153717.3(EVC):c.903G>A (p.Lys301=) rs2152027698
NM_153717.3(EVC):c.90C>T (p.Pro30=)
NM_153717.3(EVC):c.928C>T (p.Leu310=) rs145300726
NM_153717.3(EVC):c.930A>G (p.Leu310=) rs776792609
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572
NM_153717.3(EVC):c.936T>C (p.Asp312=) rs1294633111
NM_153717.3(EVC):c.939+10_939+11delinsGT rs2152027986
NM_153717.3(EVC):c.939+11G>A
NM_153717.3(EVC):c.939+12A>C
NM_153717.3(EVC):c.939+13C>A
NM_153717.3(EVC):c.939+16T>A
NM_153717.3(EVC):c.939+16T>C
NM_153717.3(EVC):c.939+17C>T
NM_153717.3(EVC):c.939+20T>A
NM_153717.3(EVC):c.939+9_939+10inv
NM_153717.3(EVC):c.93C>T (p.Ala31=) rs866226288
NM_153717.3(EVC):c.940-14T>C
NM_153717.3(EVC):c.940-15G>A
NM_153717.3(EVC):c.940-15G>T
NM_153717.3(EVC):c.940-6T>C rs2152044901
NM_153717.3(EVC):c.940-9A>G rs1241925243
NM_153717.3(EVC):c.945A>G (p.Glu315=) rs1057523442
NM_153717.3(EVC):c.957A>G (p.Lys319=) rs2152045024
NM_153717.3(EVC):c.96G>A (p.Val32=) rs2151767783
NM_153717.3(EVC):c.987G>A (p.Val329=)
NM_153717.3(EVC):c.990C>T (p.Asp330=) rs2152045173
NM_153717.3(EVC):c.999G>A (p.Lys333=) rs1729659333
NM_153717.3(EVC):c.9C>A (p.Arg3=) rs1330946337
NM_198253.3(TERT):c.1002C>G (p.Ser334=)
NM_198253.3(TERT):c.1008C>A (p.Gly336=)
NM_198253.3(TERT):c.1014G>A (p.Lys338=) rs2126686359
NM_198253.3(TERT):c.1023G>A (p.Leu341=) rs2126686315
NM_198253.3(TERT):c.1023G>T (p.Leu341=) rs2126686315
NM_198253.3(TERT):c.1024C>A (p.Arg342=) rs2126686300
NM_198253.3(TERT):c.1026G>C (p.Arg342=) rs2126686276
NM_198253.3(TERT):c.102G>A (p.Gln34=) rs1751296255
NM_198253.3(TERT):c.1041C>T (p.Leu347=)
NM_198253.3(TERT):c.1044C>T (p.Ser348=)
NM_198253.3(TERT):c.1047T>C (p.Ser349=) rs2126686193
NM_198253.3(TERT):c.1048C>T (p.Leu350=) rs2126686184
NM_198253.3(TERT):c.1050G>C (p.Leu350=)
NM_198253.3(TERT):c.105C>T (p.Gly35=)
NM_198253.3(TERT):c.1062G>C (p.Leu354=)
NM_198253.3(TERT):c.1062G>T (p.Leu354=)
NM_198253.3(TERT):c.1065T>A (p.Thr355=)
NM_198253.3(TERT):c.1071T>G (p.Ala357=)
NM_198253.3(TERT):c.1072C>A (p.Arg358=)
NM_198253.3(TERT):c.1077G>A (p.Arg359=) rs1014531727
NM_198253.3(TERT):c.1080C>G (p.Leu360=)
NM_198253.3(TERT):c.1089C>A (p.Thr363=) rs1751164388
NM_198253.3(TERT):c.1095T>C (p.Phe365=)
NM_198253.3(TERT):c.1096C>T (p.Leu366=) rs1751163747
NM_198253.3(TERT):c.1105A>C (p.Arg369=)
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009
NM_198253.3(TERT):c.1119A>C (p.Pro373=) rs747342234
NM_198253.3(TERT):c.111G>A (p.Arg37=) rs1751295827
NM_198253.3(TERT):c.111G>T (p.Arg37=)
NM_198253.3(TERT):c.1122G>A (p.Gly374=)
NM_198253.3(TERT):c.1122G>T (p.Gly374=)
NM_198253.3(TERT):c.1128C>T (p.Pro376=)
NM_198253.3(TERT):c.112C>T (p.Leu38=)
NM_198253.3(TERT):c.1135T>C (p.Leu379=)
NM_198253.3(TERT):c.1140C>T (p.Pro380=) rs2126685772
NM_198253.3(TERT):c.1143C>T (p.Arg381=) rs878855298
NM_198253.3(TERT):c.1144C>T (p.Leu382=) rs994804257
NM_198253.3(TERT):c.1149C>T (p.Pro383=) rs2126685713
NM_198253.3(TERT):c.114G>T (p.Leu38=) rs1350421146
NM_198253.3(TERT):c.1155C>G (p.Arg385=) rs2126685678
NM_198253.3(TERT):c.1158C>T (p.Tyr386=)
NM_198253.3(TERT):c.1168C>A (p.Arg390=)
NM_198253.3(TERT):c.1179T>C (p.Phe393=)
NM_198253.3(TERT):c.117G>A (p.Val39=) rs2126691987
NM_198253.3(TERT):c.1182G>A (p.Leu394=)
NM_198253.3(TERT):c.1186C>T (p.Leu396=)
NM_198253.3(TERT):c.1194G>C (p.Gly398=)
NM_198253.3(TERT):c.1203G>A (p.Ala401=)
NM_198253.3(TERT):c.1218G>A (p.Gly406=)
NM_198253.3(TERT):c.1221G>A (p.Val407=)
NM_198253.3(TERT):c.1224C>T (p.Leu408=)
NM_198253.3(TERT):c.1233G>A (p.Thr411=)
NM_198253.3(TERT):c.1233G>C (p.Thr411=) rs1187843426
NM_198253.3(TERT):c.1233G>T (p.Thr411=) rs1187843426
NM_198253.3(TERT):c.123C>T (p.Arg41=) rs1436697048
NM_198253.3(TERT):c.1242G>C (p.Pro414=)
NM_198253.3(TERT):c.1242G>T (p.Pro414=)
NM_198253.3(TERT):c.1245G>A (p.Leu415=)
NM_198253.3(TERT):c.1254G>A (p.Ala418=) rs1212476315
NM_198253.3(TERT):c.1254G>C (p.Ala418=)
NM_198253.3(TERT):c.1254G>T (p.Ala418=)
NM_198253.3(TERT):c.1260C>A (p.Thr420=) rs763270537
NM_198253.3(TERT):c.1260C>G (p.Thr420=)
NM_198253.3(TERT):c.1263A>T (p.Pro421=) rs2126685105
NM_198253.3(TERT):c.1269C>A (p.Ala423=) rs190411812
NM_198253.3(TERT):c.1269C>G (p.Ala423=)
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.126G>C (p.Gly42=) rs2126691882
NM_198253.3(TERT):c.1284G>A (p.Arg428=) rs1443163588
NM_198253.3(TERT):c.1284G>C (p.Arg428=)
NM_198253.3(TERT):c.1290G>A (p.Lys430=)
NM_198253.3(TERT):c.1293C>T (p.Pro431=) rs1579596653
NM_198253.3(TERT):c.1296G>A (p.Gln432=) rs1751139434
NM_198253.3(TERT):c.1298G>A (p.Gly433Asp) rs537806041
NM_198253.3(TERT):c.1299C>T (p.Gly433=)
NM_198253.3(TERT):c.1308G>A (p.Ala436=) rs1311876477
NM_198253.3(TERT):c.1311C>T (p.Ala437=) rs2126684861
NM_198253.3(TERT):c.1314C>G (p.Pro438=)
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1320G>A (p.Glu440=)
NM_198253.3(TERT):c.1323G>A (p.Glu441=)
NM_198253.3(TERT):c.1326C>T (p.Asp442=)
NM_198253.3(TERT):c.132G>A (p.Pro44=) rs2126691830
NM_198253.3(TERT):c.1332C>T (p.Asp444=)
NM_198253.3(TERT):c.1335C>G (p.Pro445=)
NM_198253.3(TERT):c.1335C>T (p.Pro445=) rs1579596558
NM_198253.3(TERT):c.1342C>T (p.Leu448=) rs2126684630
NM_198253.3(TERT):c.1356C>G (p.Leu452=)
NM_198253.3(TERT):c.1359C>T (p.Arg453=)
NM_198253.3(TERT):c.135G>A (p.Ala45=)
NM_198253.3(TERT):c.135G>T (p.Ala45=)
NM_198253.3(TERT):c.1371C>T (p.Ser457=)
NM_198253.3(TERT):c.1380G>A (p.Gln460=) rs754992012
NM_198253.3(TERT):c.1383G>A (p.Val461=)
NM_198253.3(TERT):c.1386C>T (p.Tyr462=) rs1198114367
NM_198253.3(TERT):c.1389C>T (p.Gly463=) rs1554042821
NM_198253.3(TERT):c.1398G>T (p.Arg466=) rs1579596423
NM_198253.3(TERT):c.1401C>T (p.Ala467=) rs1751126189
NM_198253.3(TERT):c.1404C>T (p.Cys468=) rs2126684334
NM_198253.3(TERT):c.1407G>T (p.Leu469=)
NM_198253.3(TERT):c.1411C>A (p.Arg471=) rs750721558
NM_198253.3(TERT):c.1416G>A (p.Leu472=)
NM_198253.3(TERT):c.1419G>A (p.Val473=) rs1396093690
NM_198253.3(TERT):c.1425A>C (p.Pro475=) rs1579596372
NM_198253.3(TERT):c.1425A>T (p.Pro475=) rs1579596372
NM_198253.3(TERT):c.1437C>A (p.Gly479=)
NM_198253.3(TERT):c.1437C>T (p.Gly479=) rs1378108036
NM_198253.3(TERT):c.1455C>G (p.Arg485=) rs1751120161
NM_198253.3(TERT):c.1458C>T (p.Arg486=) rs1554042806
NM_198253.3(TERT):c.1461C>T (p.Phe487=)
NM_198253.3(TERT):c.1470C>T (p.Asn490=)
NM_198253.3(TERT):c.1476G>A (p.Lys492=) rs1060504789
NM_198253.3(TERT):c.1479G>A (p.Lys493=) rs2126683975
NM_198253.3(TERT):c.147G>A (p.Ala49=) rs1279270618
NM_198253.3(TERT):c.147G>T (p.Ala49=) rs1279270618
NM_198253.3(TERT):c.1485C>T (p.Ile495=) rs1352932374
NM_198253.3(TERT):c.1489C>T (p.Leu497=) rs747756167
NM_198253.3(TERT):c.1500T>C (p.His500=)
NM_198253.3(TERT):c.1506G>A (p.Lys502=)
NM_198253.3(TERT):c.1509C>G (p.Leu503=) rs2126683847
NM_198253.3(TERT):c.1513C>T (p.Leu505=)
NM_198253.3(TERT):c.1521G>A (p.Glu507=) rs2126683816
NM_198253.3(TERT):c.1522C>T (p.Leu508=) rs1259826430
NM_198253.3(TERT):c.1527G>A (p.Thr509=) rs750159404
NM_198253.3(TERT):c.1527G>C (p.Thr509=)
NM_198253.3(TERT):c.1527G>T (p.Thr509=)
NM_198253.3(TERT):c.1533G>A (p.Lys511=) rs1554042793
NM_198253.3(TERT):c.1539C>T (p.Ser513=) rs1026564018
NM_198253.3(TERT):c.153G>A (p.Val51=) rs1554043143
NM_198253.3(TERT):c.1543C>A (p.Arg515=) rs1751112187
NM_198253.3(TERT):c.1545G>A (p.Arg515=) rs2126683743
NM_198253.3(TERT):c.1548C>T (p.Asp516=)
NM_198253.3(TERT):c.1551C>T (p.Cys517=) rs2126683702
NM_198253.3(TERT):c.1554T>C (p.Ala518=)
NM_198253.3(TERT):c.1563C>A (p.Arg521=)
NM_198253.3(TERT):c.1566G>A (p.Arg522=) rs770410182
NM_198253.3(TERT):c.1569C>T (p.Ser523=)
NM_198253.3(TERT):c.156C>T (p.Ala52=) rs2126691625
NM_198253.3(TERT):c.1573+13_1573+15del
NM_198253.3(TERT):c.1573+16C>G
NM_198253.3(TERT):c.1573+17C>A rs767882579
NM_198253.3(TERT):c.1573+17C>G
NM_198253.3(TERT):c.1573+18G>A
NM_198253.3(TERT):c.1573+18G>T rs759997978
NM_198253.3(TERT):c.1573+20C>G
NM_198253.3(TERT):c.1573+20C>T rs2126683479
NM_198253.3(TERT):c.1573+7A>T rs2126683538
NM_198253.3(TERT):c.1573+9del rs2126683528
NM_198253.3(TERT):c.1574-16G>A
NM_198253.3(TERT):c.1574-18A>G rs2126650173
NM_198253.3(TERT):c.1574-20G>A
NM_198253.3(TERT):c.1574-3777_1574-3776delinsTC rs2126663072
NM_198253.3(TERT):c.1574-4456_1574-4455delinsAT
NM_198253.3(TERT):c.1574-7G>C
NM_198253.3(TERT):c.1575G>T (p.Gly525=)
NM_198253.3(TERT):c.1577T>C (p.Val526Ala) rs1417720511
NM_198253.3(TERT):c.1590G>C (p.Pro530=) rs1396912668
NM_198253.3(TERT):c.159G>A (p.Gln53=)
NM_198253.3(TERT):c.1602C>T (p.His534=) rs1750103319
NM_198253.3(TERT):c.1608G>A (p.Leu536=) rs1207136187
NM_198253.3(TERT):c.1608G>T (p.Leu536=)
NM_198253.3(TERT):c.1620C>A (p.Ile540=) rs797046041
NM_198253.3(TERT):c.1621C>T (p.Leu541=)
NM_198253.3(TERT):c.1633C>T (p.Leu545=) rs2126649815
NM_198253.3(TERT):c.1635G>A (p.Leu545=)
NM_198253.3(TERT):c.1635G>T (p.Leu545=) rs780652471
NM_198253.3(TERT):c.163C>T (p.Leu55=)
NM_198253.3(TERT):c.1642C>T (p.Leu548=) rs1579580161
NM_198253.3(TERT):c.1644G>A (p.Leu548=)
NM_198253.3(TERT):c.1644G>C (p.Leu548=)
NM_198253.3(TERT):c.1653G>A (p.Val551=) rs1487526976
NM_198253.3(TERT):c.165G>A (p.Leu55=)
NM_198253.3(TERT):c.1662C>G (p.Val554=) rs200539091
NM_198253.3(TERT):c.1662C>T (p.Val554=) rs200539091
NM_198253.3(TERT):c.1666C>T (p.Leu556=)
NM_198253.3(TERT):c.1668G>A (p.Leu556=) rs2126649646
NM_198253.3(TERT):c.1671C>T (p.Leu557=)
NM_198253.3(TERT):c.1677T>G (p.Ser559=) rs752927236
NM_198253.3(TERT):c.1686T>C (p.Tyr562=) rs925363445
NM_198253.3(TERT):c.1695G>A (p.Glu565=)
NM_198253.3(TERT):c.1698C>T (p.Thr566=) rs2126649560
NM_198253.3(TERT):c.1707A>G (p.Gln569=) rs2126649532
NM_198253.3(TERT):c.1713C>T (p.Asn571=) rs1750089799
NM_198253.3(TERT):c.1714A>C (p.Arg572=) rs781140261
NM_198253.3(TERT):c.1719C>T (p.Leu573=) rs978808687
NM_198253.3(TERT):c.1725C>T (p.Phe575=)
NM_198253.3(TERT):c.1729C>A (p.Arg577=) rs1207489144
NM_198253.3(TERT):c.1731G>A (p.Arg577=) rs143585580
NM_198253.3(TERT):c.1731G>C (p.Arg577=) rs143585580
NM_198253.3(TERT):c.1737T>C (p.Ser579=) rs1395379702
NM_198253.3(TERT):c.174G>T (p.Val58=) rs1054748675
NM_198253.3(TERT):c.1758C>T (p.Ser586=) rs2126649344
NM_198253.3(TERT):c.1761T>C (p.Ile587=) rs1750084189
NM_198253.3(TERT):c.1767C>A (p.Ile589=)
NM_198253.3(TERT):c.1769+11C>T
NM_198253.3(TERT):c.1769+12C>T
NM_198253.3(TERT):c.1769+17C>A
NM_198253.3(TERT):c.1769+18C>G rs2126649231
NM_198253.3(TERT):c.1769+18C>T rs2126649231
NM_198253.3(TERT):c.1769+19A>C rs2126649224
NM_198253.3(TERT):c.1770-11C>T
NM_198253.3(TERT):c.1770-11_1770-8del rs750157829
NM_198253.3(TERT):c.1770-13C>T rs2126644846
NM_198253.3(TERT):c.1770-17G>C rs2126644875
NM_198253.3(TERT):c.1770-4G>A
NM_198253.3(TERT):c.1770-6T>C rs2126644817
NM_198253.3(TERT):c.1770-9C>T rs780230412
NM_198253.3(TERT):c.1770A>G (p.Arg590=) rs911912730
NM_198253.3(TERT):c.1773G>A (p.Gln591=) rs2126644785
NM_198253.3(TERT):c.1776C>T (p.His592=) rs2126644773
NM_198253.3(TERT):c.1777T>C (p.Leu593=)
NM_198253.3(TERT):c.1779G>A (p.Leu593=) rs199585924
NM_198253.3(TERT):c.1782G>A (p.Lys594=) rs1749937873
NM_198253.3(TERT):c.1784G>A (p.Arg595Lys)
NM_198253.3(TERT):c.1792C>T (p.Leu598=) rs2126644712
NM_198253.3(TERT):c.1794G>A (p.Leu598=) rs752358619
NM_198253.3(TERT):c.1794G>T (p.Leu598=)
NM_198253.3(TERT):c.1797G>A (p.Arg599=) rs2126644679
NM_198253.3(TERT):c.1797G>C (p.Arg599=)
NM_198253.3(TERT):c.1809A>G (p.Glu603=)
NM_198253.3(TERT):c.1818C>T (p.Val606=) rs1579577325
NM_198253.3(TERT):c.1819A>C (p.Arg607=) rs2126644604
NM_198253.3(TERT):c.1821G>A (p.Arg607=) rs368309861
NM_198253.3(TERT):c.1824G>A (p.Gln608=)
NM_198253.3(TERT):c.1824G>T (p.Gln608His) rs769540249
NM_198253.3(TERT):c.1836C>T (p.Ala612=) rs34170122
NM_198253.3(TERT):c.183C>T (p.Asp61=) rs1579599141
NM_198253.3(TERT):c.1851G>A (p.Leu617=) rs1749930112
NM_198253.3(TERT):c.1854G>T (p.Thr618=) rs746040728
NM_198253.3(TERT):c.1866C>T (p.Arg622=)
NM_198253.3(TERT):c.1872C>T (p.Ile624=) rs2126644386
NM_198253.3(TERT):c.1887G>C (p.Gly629=)
NM_198253.3(TERT):c.1887G>T (p.Gly629=)
NM_198253.3(TERT):c.1888C>T (p.Leu630=) rs1579577146
NM_198253.3(TERT):c.1893G>A (p.Arg631=) rs2126644284
NM_198253.3(TERT):c.189G>C (p.Arg63=)
NM_198253.3(TERT):c.1905C>T (p.Asn635=) rs891246934
NM_198253.3(TERT):c.1917C>A (p.Val639=) rs142989562
NM_198253.3(TERT):c.1917C>T (p.Val639=) rs142989562
NM_198253.3(TERT):c.192G>A (p.Pro64=) rs930445607
NM_198253.3(TERT):c.192G>C (p.Pro64=) rs930445607
NM_198253.3(TERT):c.1932G>C (p.Thr644=) rs148582238
NM_198253.3(TERT):c.1938C>T (p.Arg646=) rs1579577036
NM_198253.3(TERT):c.1941A>G (p.Arg647=)
NM_198253.3(TERT):c.1950+14G>T rs2126644042
NM_198253.3(TERT):c.1951-14G>A rs1258492967
NM_198253.3(TERT):c.1951-14G>C
NM_198253.3(TERT):c.1951-15T>C rs368941345
NM_198253.3(TERT):c.1951-16A>G
NM_198253.3(TERT):c.1951-16A>T
NM_198253.3(TERT):c.1951-18C>A rs1472140487
NM_198253.3(TERT):c.1951-20T>G
NM_198253.3(TERT):c.1951-20del rs2126642509
NM_198253.3(TERT):c.1951-4C>G rs1023830541
NM_198253.3(TERT):c.1951-4C>T
NM_198253.3(TERT):c.1951-5G>T rs770214413
NM_198253.3(TERT):c.1951-7C>A rs1440794144
NM_198253.3(TERT):c.1951-8C>T rs1378410963
NM_198253.3(TERT):c.1951-9_1951-8delinsGT rs2126642463
NM_198253.3(TERT):c.1953C>A (p.Ala651=) rs201088708
NM_198253.3(TERT):c.195C>A (p.Pro65=)
NM_198253.3(TERT):c.1968G>C (p.Ser656=)
NM_198253.3(TERT):c.1971G>A (p.Arg657=)
NM_198253.3(TERT):c.1981C>T (p.Leu661=) rs2126642293
NM_198253.3(TERT):c.198C>T (p.Pro66=) rs2126691411
NM_198253.3(TERT):c.1995C>G (p.Leu665=) rs2126642221
NM_198253.3(TERT):c.2005C>A (p.Arg669=) rs372140951
NM_198253.3(TERT):c.2007G>A (p.Arg669=) rs1060504788
NM_198253.3(TERT):c.2007G>C (p.Arg669=) rs1060504788
NM_198253.3(TERT):c.2008G>A (p.Ala670Thr)
NM_198253.3(TERT):c.2013G>A (p.Arg671=) rs34625402
NM_198253.3(TERT):c.2016C>T (p.Arg672=) rs1283231300
NM_198253.3(TERT):c.2019C>G (p.Pro673=)
NM_198253.3(TERT):c.2022C>T (p.Gly674=) rs1366670221
NM_198253.3(TERT):c.2025C>T (p.Leu675=) rs1749854298
NM_198253.3(TERT):c.2034C>T (p.Ala678=)
NM_198253.3(TERT):c.2046C>T (p.Gly682=)
NM_198253.3(TERT):c.2049G>A (p.Leu683=) rs1561203157
NM_198253.3(TERT):c.2058C>T (p.Ile686=)
NM_198253.3(TERT):c.2067C>G (p.Ala689=)
NM_198253.3(TERT):c.2067C>T (p.Ala689=) rs1749849158
NM_198253.3(TERT):c.2082G>C (p.Val694=) rs2126641798
NM_198253.3(TERT):c.2085G>A (p.Leu695=) rs1579575778
NM_198253.3(TERT):c.2103C>T (p.Asp701=) rs2126641684
NM_198253.3(TERT):c.2106G>C (p.Pro702=)
NM_198253.3(TERT):c.2106G>T (p.Pro702=) rs151055240
NM_198253.3(TERT):c.2109G>A (p.Pro703=) rs763147123
NM_198253.3(TERT):c.2109G>T (p.Pro703=) rs763147123
NM_198253.3(TERT):c.210C>T (p.Ser70=) rs2126691359
NM_198253.3(TERT):c.2112T>C (p.Pro704=)
NM_198253.3(TERT):c.2121C>T (p.Tyr707=)
NM_198253.3(TERT):c.2127C>A (p.Val709=) rs765264494
NM_198253.3(TERT):c.2130+13G>A
NM_198253.3(TERT):c.2130+13G>T
NM_198253.3(TERT):c.2130+15C>A
NM_198253.3(TERT):c.2130+16C>G rs2126641564
NM_198253.3(TERT):c.2130+17C>T
NM_198253.3(TERT):c.2130+18C>A
NM_198253.3(TERT):c.2130+18C>T rs2126641556
NM_198253.3(TERT):c.2130+20G>T
NM_198253.3(TERT):c.2130+7G>A
NM_198253.3(TERT):c.2130+7del
NM_198253.3(TERT):c.2131-10A>G
NM_198253.3(TERT):c.2131-12C>T
NM_198253.3(TERT):c.2131-13T>C
NM_198253.3(TERT):c.2131-14C>G
NM_198253.3(TERT):c.2131-15C>T rs2126640561
NM_198253.3(TERT):c.2131-19C>T
NM_198253.3(TERT):c.2131-19_2131-17del rs2126640576
NM_198253.3(TERT):c.2131-4A>C rs1030149805
NM_198253.3(TERT):c.2131-4A>G rs1030149805
NM_198253.3(TERT):c.2136T>C (p.Asp712=)
NM_198253.3(TERT):c.213C>T (p.Phe71=)
NM_198253.3(TERT):c.2142G>C (p.Thr714=)
NM_198253.3(TERT):c.2145C>A (p.Gly715=) rs769467251
NM_198253.3(TERT):c.2157C>G (p.Thr719=) rs1554040905
NM_198253.3(TERT):c.2160C>A (p.Ile720=) rs1212059525
NM_198253.3(TERT):c.2160C>T (p.Ile720=)
NM_198253.3(TERT):c.2163C>T (p.Pro721=) rs1455990789
NM_198253.3(TERT):c.216C>A (p.Arg72=)
NM_198253.3(TERT):c.216C>T (p.Arg72=) rs2126691332
NM_198253.3(TERT):c.2172G>A (p.Arg724=)
NM_198253.3(TERT):c.2175C>T (p.Leu725=)
NM_198253.3(TERT):c.219+10C>G rs1579599045
NM_198253.3(TERT):c.219+12C>G rs1751282971
NM_198253.3(TERT):c.219+12C>T
NM_198253.3(TERT):c.219+13G>A rs1751282799
NM_198253.3(TERT):c.219+14G>A
NM_198253.3(TERT):c.219+14G>C rs1469244031
NM_198253.3(TERT):c.219+15G>A
NM_198253.3(TERT):c.219+16G>A rs2126691259
NM_198253.3(TERT):c.219+18C>T rs1751282294
NM_198253.3(TERT):c.219+19G>A
NM_198253.3(TERT):c.219+19G>C
NM_198253.3(TERT):c.219+19_219+20insGAG rs2126691250
NM_198253.3(TERT):c.219+20G>A rs1416634421
NM_198253.3(TERT):c.219+7C>A rs573817924
NM_198253.3(TERT):c.219+9C>T rs2126691300
NM_198253.3(TERT):c.2193C>T (p.Ser731=) rs2126640257
NM_198253.3(TERT):c.220-12C>G
NM_198253.3(TERT):c.220-13G>A rs1452360898
NM_198253.3(TERT):c.220-13G>C rs1452360898
NM_198253.3(TERT):c.220-14C>T
NM_198253.3(TERT):c.220-15G>A
NM_198253.3(TERT):c.220-18A>G
NM_198253.3(TERT):c.220-19C>T
NM_198253.3(TERT):c.220-20del
NM_198253.3(TERT):c.220-5C>G
NM_198253.3(TERT):c.220-5C>T
NM_198253.3(TERT):c.220-6C>T
NM_198253.3(TERT):c.220-7C>T rs1751274289
NM_198253.3(TERT):c.220-9C>T rs533701379
NM_198253.3(TERT):c.2205C>T (p.Pro735=)
NM_198253.3(TERT):c.2211C>T (p.Asn737=) rs1749789535
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.2223G>A (p.Val741=)
NM_198253.3(TERT):c.222G>C (p.Val74=)
NM_198253.3(TERT):c.2241C>T (p.Val747=) rs2126640074
NM_198253.3(TERT):c.2247G>A (p.Lys749=) rs2126640051
NM_198253.3(TERT):c.2253C>A (p.Ala751=)
NM_198253.3(TERT):c.2253C>G (p.Ala751=)
NM_198253.3(TERT):c.2259G>A (p.Gly753=) rs2126639996
NM_198253.3(TERT):c.225C>A (p.Ser75=) rs1751272539
NM_198253.3(TERT):c.225C>T (p.Ser75=) rs1751272539
NM_198253.3(TERT):c.2277C>T (p.Phe759=) rs1579574740
NM_198253.3(TERT):c.2280G>A (p.Lys760=) rs2126639919
NM_198253.3(TERT):c.2286+11C>A
NM_198253.3(TERT):c.2286+12G>C
NM_198253.3(TERT):c.2286+12G>T rs756363405
NM_198253.3(TERT):c.2286+15T>G
NM_198253.3(TERT):c.2286+18T>C
NM_198253.3(TERT):c.2286+20G>A rs977203970
NM_198253.3(TERT):c.2286+20G>T
NM_198253.3(TERT):c.2286+7T>C rs2126639872
NM_198253.3(TERT):c.2286+8T>C rs2126639868
NM_198253.3(TERT):c.2286+9C>G
NM_198253.3(TERT):c.2287-10C>T rs2126618123
NM_198253.3(TERT):c.2287-13C>T rs2126618135
NM_198253.3(TERT):c.2287-14T>G rs2126618143
NM_198253.3(TERT):c.2287-17C>G rs2126618153
NM_198253.3(TERT):c.2287-17C>T
NM_198253.3(TERT):c.2287-18C>G
NM_198253.3(TERT):c.2287-19C>G
NM_198253.3(TERT):c.2287-19C>T rs1749103816
NM_198253.3(TERT):c.2287-20G>T
NM_198253.3(TERT):c.2287-6C>T rs758808508
NM_198253.3(TERT):c.2287-7C>T
NM_198253.3(TERT):c.2287-8G>A rs766904121
NM_198253.3(TERT):c.2287-8G>C
NM_198253.3(TERT):c.2289C>A (p.Val763=) rs1310927331
NM_198253.3(TERT):c.2295C>T (p.Thr765=) rs1749099808
NM_198253.3(TERT):c.229C>T (p.Leu77=) rs1751271727
NM_198253.3(TERT):c.22C>A (p.Arg8=) rs1579599353
NM_198253.3(TERT):c.2304C>T (p.Asp768=)
NM_198253.3(TERT):c.2307C>G (p.Leu769=) rs117662357
NM_198253.3(TERT):c.2331G>T (p.Val777=)
NM_198253.3(TERT):c.2340G>A (p.Leu780=)
NM_198253.3(TERT):c.2346G>T (p.Glu782Asp)
NM_198253.3(TERT):c.2349C>T (p.Thr783=)
NM_198253.3(TERT):c.2355G>T (p.Pro785=)
NM_198253.3(TERT):c.2356C>T (p.Leu786=) rs1488050310
NM_198253.3(TERT):c.2358G>A (p.Leu786=)
NM_198253.3(TERT):c.2373C>T (p.Val791=)
NM_198253.3(TERT):c.2382+10C>T rs2126617466
NM_198253.3(TERT):c.2382+14C>T
NM_198253.3(TERT):c.2382+15C>T rs1749087923
NM_198253.3(TERT):c.2382+17G>T rs762113246
NM_198253.3(TERT):c.2382+18C>A
NM_198253.3(TERT):c.2382+19A>G
NM_198253.3(TERT):c.2382+19A>T
NM_198253.3(TERT):c.2382+9A>G rs893726292
NM_198253.3(TERT):c.2383-10G>A
NM_198253.3(TERT):c.2383-11T>C
NM_198253.3(TERT):c.2383-12C>T
NM_198253.3(TERT):c.2383-14G>C
NM_198253.3(TERT):c.2383-14G>T
NM_198253.3(TERT):c.2383-15del rs756980454
NM_198253.3(TERT):c.2383-19C>T
NM_198253.3(TERT):c.2383-5C>G rs373488315
NM_198253.3(TERT):c.2383-5C>T rs373488315
NM_198253.3(TERT):c.2383-6T>C
NM_198253.3(TERT):c.2383-9C>T
NM_198253.3(TERT):c.238C>T (p.Leu80=) rs2126690855
NM_198253.3(TERT):c.2392C>T (p.Leu798=)
NM_198253.3(TERT):c.2397T>C (p.Asn799=) rs2126614626
NM_198253.3(TERT):c.2400G>A (p.Glu800=) rs2126614616
NM_198253.3(TERT):c.2406C>T (p.Ser802=)
NM_198253.3(TERT):c.2409T>C (p.Ser803=)
NM_198253.3(TERT):c.2412C>A (p.Gly804=) rs2126614525
NM_198253.3(TERT):c.2412C>T (p.Gly804=)
NM_198253.3(TERT):c.2433C>T (p.Arg811=)
NM_198253.3(TERT):c.2454G>C (p.Val818=)
NM_198253.3(TERT):c.2468+10G>A
NM_198253.3(TERT):c.2468+10G>T rs878855301
NM_198253.3(TERT):c.2468+16A>C
NM_198253.3(TERT):c.2468+19T>C rs2126614222
NM_198253.3(TERT):c.2469-10C>G
NM_198253.3(TERT):c.2469-10C>T rs772747367
NM_198253.3(TERT):c.2469-13C>G
NM_198253.3(TERT):c.2469-13C>T
NM_198253.3(TERT):c.2469-14T>C rs2126607781
NM_198253.3(TERT):c.2469-18T>C
NM_198253.3(TERT):c.2469-19C>T
NM_198253.3(TERT):c.2469-20C>T
NM_198253.3(TERT):c.246C>G (p.Ala82=) rs1751270960
NM_198253.3(TERT):c.246C>T (p.Ala82=)
NM_198253.3(TERT):c.2481G>A (p.Gln827=) rs915422897
NM_198253.3(TERT):c.2490G>A (p.Gly830=)
NM_198253.3(TERT):c.2490G>T (p.Gly830=) rs1363389549
NM_198253.3(TERT):c.2493C>A (p.Ile831=)
NM_198253.3(TERT):c.2493C>T (p.Ile831=) rs1748795204
NM_198253.3(TERT):c.2496G>C (p.Pro832=)
NM_198253.3(TERT):c.2496G>T (p.Pro832=)
NM_198253.3(TERT):c.24A>G (p.Arg8=) rs2126692983
NM_198253.3(TERT):c.2505C>G (p.Ser835=) rs2126607523
NM_198253.3(TERT):c.2508C>T (p.Ile836=)
NM_198253.3(TERT):c.2511C>A (p.Leu837=) rs374940572
NM_198253.3(TERT):c.2511C>G (p.Leu837=)
NM_198253.3(TERT):c.2514C>T (p.Ser838=) rs2126607485
NM_198253.3(TERT):c.2517G>C (p.Thr839=)
NM_198253.3(TERT):c.2518C>T (p.Leu840=) rs1029677700
NM_198253.3(TERT):c.2523C>G (p.Leu841=) rs1554039733
NM_198253.3(TERT):c.2526C>T (p.Cys842=)
NM_198253.3(TERT):c.2529C>T (p.Ser843=) rs1268553346
NM_198253.3(TERT):c.252G>C (p.Val84=)
NM_198253.3(TERT):c.2532G>A (p.Leu844=)
NM_198253.3(TERT):c.2535C>T (p.Cys845=)
NM_198253.3(TERT):c.2541C>A (p.Gly847=)
NM_198253.3(TERT):c.2544C>T (p.Asp848=)
NM_198253.3(TERT):c.2556G>A (p.Lys852=) rs1579560410
NM_198253.3(TERT):c.2557C>T (p.Leu853=) rs375042320
NM_198253.3(TERT):c.2559G>A (p.Leu853=) rs2126607258
NM_198253.3(TERT):c.2559G>C (p.Leu853=)
NM_198253.3(TERT):c.2565G>A (p.Ala855=) rs769077049
NM_198253.3(TERT):c.2574G>A (p.Arg858=) rs2126607145
NM_198253.3(TERT):c.2577G>C (p.Arg859=) rs1554039723
NM_198253.3(TERT):c.2582+13C>A
NM_198253.3(TERT):c.2582+13C>G
NM_198253.3(TERT):c.2582+13C>T rs1748778971
NM_198253.3(TERT):c.2582+17C>A
NM_198253.3(TERT):c.2582+18C>G rs2126607004
NM_198253.3(TERT):c.2582+18C>T rs2126607004
NM_198253.3(TERT):c.2582+6_2582+14del
NM_198253.3(TERT):c.2582+7C>T rs766415474
NM_198253.3(TERT):c.2582+8del rs2126607068
NM_198253.3(TERT):c.2582+9T>C
NM_198253.3(TERT):c.2583-10C>A
NM_198253.3(TERT):c.2583-10C>T rs2126601591
NM_198253.3(TERT):c.2583-15T>C
NM_198253.3(TERT):c.2583-19G>A
NM_198253.3(TERT):c.2583-4T>G rs2126601566
NM_198253.3(TERT):c.2583-6T>C
NM_198253.3(TERT):c.2583-8T>C rs2126601585
NM_198253.3(TERT):c.2586G>A (p.Leu862=)
NM_198253.3(TERT):c.2589C>G (p.Leu863=)
NM_198253.3(TERT):c.2589C>T (p.Leu863=) rs1748620153
NM_198253.3(TERT):c.2590C>T (p.Leu864=) rs777358007
NM_198253.3(TERT):c.2592G>C (p.Leu864=)
NM_198253.3(TERT):c.2596T>C (p.Leu866=) rs1060504798
NM_198253.3(TERT):c.2604T>C (p.Asp868=) rs1579558147
NM_198253.3(TERT):c.2607T>C (p.Asp869=)
NM_198253.3(TERT):c.2619G>A (p.Val873=) rs1579558137
NM_198253.3(TERT):c.2622A>C (p.Thr874=)
NM_198253.3(TERT):c.2628C>T (p.His876=) rs199422303
NM_198253.3(TERT):c.2637C>T (p.His879=) rs1307380469
NM_198253.3(TERT):c.2640G>C (p.Ala880=) rs754776542
NM_198253.3(TERT):c.2649C>T (p.Phe883=)
NM_198253.3(TERT):c.264G>A (p.Leu88=) rs768398792
NM_198253.3(TERT):c.264G>T (p.Leu88=) rs768398792
NM_198253.3(TERT):c.2654+13C>T rs1427528815
NM_198253.3(TERT):c.2654+14C>G
NM_198253.3(TERT):c.2654+15G>T rs372081008
NM_198253.3(TERT):c.2654+17G>T
NM_198253.3(TERT):c.2654+19G>A
NM_198253.3(TERT):c.2654+20_2654+21delinsAG rs2126601066
NM_198253.3(TERT):c.2655-11C>G
NM_198253.3(TERT):c.2655-12C>T
NM_198253.3(TERT):c.2655-13C>T rs746044451
NM_198253.3(TERT):c.2655-14C>T
NM_198253.3(TERT):c.2655-19C>T rs1319828193
NM_198253.3(TERT):c.2655-20A>G
NM_198253.3(TERT):c.2655-5C>T rs2126595480
NM_198253.3(TERT):c.2655-7G>A
NM_198253.3(TERT):c.2655-7G>C
NM_198253.3(TERT):c.2655-8T>C
NM_198253.3(TERT):c.2655-9del rs1060504795
NM_198253.3(TERT):c.2655G>A (p.Arg885=) rs754372863
NM_198253.3(TERT):c.2658C>T (p.Thr886=) rs371744235
NM_198253.3(TERT):c.2659C>T (p.Leu887=) rs2126595430
NM_198253.3(TERT):c.2661G>A (p.Leu887=) rs756519152
NM_198253.3(TERT):c.2673C>T (p.Val891=)
NM_198253.3(TERT):c.2676T>C (p.Pro892=)
NM_198253.3(TERT):c.267C>T (p.Cys89=) rs2126690739
NM_198253.3(TERT):c.2682T>C (p.Tyr894=) rs2126595345
NM_198253.3(TERT):c.2685C>T (p.Gly895=) rs2126595338
NM_198253.3(TERT):c.2691G>A (p.Val897=) rs1748462417
NM_198253.3(TERT):c.2701C>A (p.Arg901=) rs199422304
NM_198253.3(TERT):c.2703G>T (p.Arg901=) rs764875699
NM_198253.3(TERT):c.2706G>A (p.Lys902=)
NM_198253.3(TERT):c.2709A>G (p.Thr903=)
NM_198253.3(TERT):c.2724T>G (p.Pro908=) rs1748459811
NM_198253.3(TERT):c.2736G>A (p.Glu912=) rs775289969
NM_198253.3(TERT):c.273C>T (p.Arg91=) rs2126690718
NM_198253.3(TERT):c.2740C>T (p.Leu914=) rs1554039274
NM_198253.3(TERT):c.2746G>A (p.Gly916Ser) rs1189683846
NM_198253.3(TERT):c.2751G>T (p.Thr917=) rs375200599
NM_198253.3(TERT):c.2754T>A (p.Ala918=) rs2126594987
NM_198253.3(TERT):c.2769G>T (p.Pro923=)
NM_198253.3(TERT):c.2772C>G (p.Ala924=) rs367672336
NM_198253.3(TERT):c.2779C>T (p.Leu927=)
NM_198253.3(TERT):c.2787C>G (p.Pro929=) rs1579555772
NM_198253.3(TERT):c.2796C>G (p.Gly932=) rs375675196
NM_198253.3(TERT):c.2799G>T (p.Leu933=)
NM_198253.3(TERT):c.27C>A (p.Ala9=) rs1033959815
NM_198253.3(TERT):c.27C>G (p.Ala9=) rs1033959815
NM_198253.3(TERT):c.27C>T (p.Ala9=) rs1033959815
NM_198253.3(TERT):c.2811C>G (p.Thr937=)
NM_198253.3(TERT):c.2811C>T (p.Thr937=)
NM_198253.3(TERT):c.2813G>A (p.Arg938Gln) rs199741493
NM_198253.3(TERT):c.2814G>C (p.Arg938=) rs1240836509
NM_198253.3(TERT):c.2817C>A (p.Thr939=)
NM_198253.3(TERT):c.2823G>A (p.Glu941=) rs1554039257
NM_198253.3(TERT):c.2826G>A (p.Val942=) rs1476614975
NM_198253.3(TERT):c.2835C>T (p.Asp945=) rs1269153908
NM_198253.3(TERT):c.2838C>T (p.Tyr946=) rs2126594700
NM_198253.3(TERT):c.2841C>A (p.Ser947=)
NM_198253.3(TERT):c.2843+10C>G
NM_198253.3(TERT):c.2843+10C>T
NM_198253.3(TERT):c.2843+12T>A
NM_198253.3(TERT):c.2843+13G>C
NM_198253.3(TERT):c.2843+13G>T
NM_198253.3(TERT):c.2843+15C>T
NM_198253.3(TERT):c.2843+17G>T
NM_198253.3(TERT):c.2843+18G>A rs1305170238
NM_198253.3(TERT):c.2843+18del rs1421396209
NM_198253.3(TERT):c.2843+7G>T
NM_198253.3(TERT):c.2844-10T>C rs1748161028
NM_198253.3(TERT):c.2844-10T>G rs1748161028
NM_198253.3(TERT):c.2844-11C>G rs769320387
NM_198253.3(TERT):c.2844-12C>A rs199765802
NM_198253.3(TERT):c.2844-12C>G rs199765802
NM_198253.3(TERT):c.2844-12C>T rs199765802
NM_198253.3(TERT):c.2844-14C>T
NM_198253.3(TERT):c.2844-16C>A
NM_198253.3(TERT):c.2844-17del
NM_198253.3(TERT):c.2844-20C>T
NM_198253.3(TERT):c.2844-22_2844-4dup rs2126584828
NM_198253.3(TERT):c.2844-6T>G rs747472604
NM_198253.3(TERT):c.2844-8T>C
NM_198253.3(TERT):c.2844-9G>A
NM_198253.3(TERT):c.2851C>A (p.Arg951=) rs370445231
NM_198253.3(TERT):c.2853G>A (p.Arg951=)
NM_198253.3(TERT):c.285C>T (p.Asn95=) rs1751267963
NM_198253.3(TERT):c.2874C>T (p.Leu958=)
NM_198253.3(TERT):c.2877C>A (p.Thr959=)
NM_198253.3(TERT):c.2877C>T (p.Thr959=)
NM_198253.3(TERT):c.2883C>T (p.Asn961=)
NM_198253.3(TERT):c.2895G>A (p.Lys965=) rs878855302
NM_198253.3(TERT):c.2901G>A (p.Gly967=) rs1554038813
NM_198253.3(TERT):c.2904G>A (p.Arg968=) rs2126584578
NM_198253.3(TERT):c.2906A>G (p.Asn969Ser)
NM_198253.3(TERT):c.2935C>A (p.Arg979=)
NM_198253.3(TERT):c.2938C>T (p.Leu980=) rs1554038808
NM_198253.3(TERT):c.2943G>A (p.Lys981=) rs2126584386
NM_198253.3(TERT):c.2949C>T (p.His983=)
NM_198253.3(TERT):c.294C>G (p.Ala98=) rs1751267765
NM_198253.3(TERT):c.2955G>A (p.Leu985=) rs1748148397
NM_198253.3(TERT):c.2958T>C (p.Phe986=)
NM_198253.3(TERT):c.2959C>T (p.Leu987=)
NM_198253.3(TERT):c.2961G>A (p.Leu987=) rs1453780688
NM_198253.3(TERT):c.2970+13_2970+15del
NM_198253.3(TERT):c.2970+14T>C
NM_198253.3(TERT):c.2970+18C>T
NM_198253.3(TERT):c.2970+7A>G rs530914674
NM_198253.3(TERT):c.2971-10G>C rs878855303
NM_198253.3(TERT):c.2971-11G>T
NM_198253.3(TERT):c.2971-14C>A
NM_198253.3(TERT):c.2971-14C>T rs2126573743
NM_198253.3(TERT):c.2971-15_2971-12del
NM_198253.3(TERT):c.2971-18C>G
NM_198253.3(TERT):c.2971-18_2971-17del
NM_198253.3(TERT):c.2971-4C>G rs750187788
NM_198253.3(TERT):c.2971-4_2971-3del rs1463846007
NM_198253.3(TERT):c.2971-51_2971-16del rs1197307883
NM_198253.3(TERT):c.2971-5T>C
NM_198253.3(TERT):c.2971-8G>A rs1423133988
NM_198253.3(TERT):c.2971-8G>C
NM_198253.3(TERT):c.2973G>A (p.Val991=) rs1554038546
NM_198253.3(TERT):c.2976C>T (p.Asn992=) rs1036120126
NM_198253.3(TERT):c.2982C>T (p.Leu994=) rs762178169
NM_198253.3(TERT):c.2996C>T (p.Thr999Ile)
NM_198253.3(TERT):c.3000C>T (p.Asn1000=) rs1579547985
NM_198253.3(TERT):c.3006C>T (p.Tyr1002=) rs760659103
NM_198253.3(TERT):c.300C>A (p.Gly100=)
NM_198253.3(TERT):c.3012C>T (p.Ile1004=) rs1308544817
NM_198253.3(TERT):c.3015C>T (p.Leu1005=)
NM_198253.3(TERT):c.3016C>T (p.Leu1006=) rs2126573390
NM_198253.3(TERT):c.3018G>T (p.Leu1006=)
NM_198253.3(TERT):c.3027G>C (p.Ala1009=) rs775582757
NM_198253.3(TERT):c.3030C>T (p.Tyr1010=) rs1747927866
NM_198253.3(TERT):c.3032+12C>T
NM_198253.3(TERT):c.3032+16G>A
NM_198253.3(TERT):c.3032+16G>C rs1172350272
NM_198253.3(TERT):c.3032+16G>T
NM_198253.3(TERT):c.3032+17G>T
NM_198253.3(TERT):c.3032+19G>C
NM_198253.3(TERT):c.3032+20T>C rs1747925287
NM_198253.3(TERT):c.3032+9C>G rs1747926384
NM_198253.3(TERT):c.3033-10A>G
NM_198253.3(TERT):c.3033-13G>T
NM_198253.3(TERT):c.3033-19C>G
NM_198253.3(TERT):c.3033-19C>T
NM_198253.3(TERT):c.3033-4_3033-3del rs2126563014
NM_198253.3(TERT):c.3033-5C>T rs1561187195
NM_198253.3(TERT):c.3033-7C>T rs2126563044
NM_198253.3(TERT):c.3033G>A (p.Arg1011=) rs1747651803
NM_198253.3(TERT):c.303C>T (p.Phe101=)
NM_198253.3(TERT):c.3042A>C (p.Ala1014=) rs1337149388
NM_198253.3(TERT):c.3042A>T (p.Ala1014=) rs1337149388
NM_198253.3(TERT):c.3045T>C (p.Cys1015=) rs922374936
NM_198253.3(TERT):c.3048G>A (p.Val1016=) rs1454370746
NM_198253.3(TERT):c.3057C>G (p.Leu1019=) rs1747647964
NM_198253.3(TERT):c.3063T>C (p.Phe1021=) rs1554038261
NM_198253.3(TERT):c.306G>C (p.Ala102=) rs2126690614
NM_198253.3(TERT):c.3075T>C (p.Val1025=)
NM_198253.3(TERT):c.3090A>G (p.Thr1030=) rs1060504787
NM_198253.3(TERT):c.3096C>T (p.Phe1032=)
NM_198253.3(TERT):c.3099G>A (p.Leu1033=)
NM_198253.3(TERT):c.3099G>C (p.Leu1033=) rs2126562675
NM_198253.3(TERT):c.309G>A (p.Leu103=) rs779738846
NM_198253.3(TERT):c.3108C>T (p.Ile1036=)
NM_198253.3(TERT):c.3111T>A (p.Ser1037=) rs2126562598
NM_198253.3(TERT):c.3114C>T (p.Asp1038=)
NM_198253.3(TERT):c.3117G>T (p.Thr1039=)
NM_198253.3(TERT):c.3120C>T (p.Ala1040=) rs2126562525
NM_198253.3(TERT):c.312G>C (p.Leu104=) rs757915567
NM_198253.3(TERT):c.3135C>T (p.Ser1045=) rs2126562436
NM_198253.3(TERT):c.3138C>A (p.Ile1046=)
NM_198253.3(TERT):c.3138C>T (p.Ile1046=) rs1747638242
NM_198253.3(TERT):c.3139C>T (p.Leu1047=)
NM_198253.3(TERT):c.3144A>G (p.Lys1048=) rs745389061
NM_198253.3(TERT):c.3157+11G>A
NM_198253.3(TERT):c.3157+11G>T
NM_198253.3(TERT):c.3157+12T>C
NM_198253.3(TERT):c.3157+13G>C
NM_198253.3(TERT):c.3157+13G>T
NM_198253.3(TERT):c.3157+13del rs1460764835
NM_198253.3(TERT):c.3157+14C>G
NM_198253.3(TERT):c.3157+14C>T rs376641569
NM_198253.3(TERT):c.3157+17G>C rs2126562187
NM_198253.3(TERT):c.3157+18G>A rs2126562179
NM_198253.3(TERT):c.3157+20C>A rs2126562168
NM_198253.3(TERT):c.3157+7G>C rs1747635282
NM_198253.3(TERT):c.3157+7G>T
NM_198253.3(TERT):c.3157+9A>G
NM_198253.3(TERT):c.3158-11T>C rs2126560040
NM_198253.3(TERT):c.3158-11T>G
NM_198253.3(TERT):c.3158-13T>C
NM_198253.3(TERT):c.3158-13T>G
NM_198253.3(TERT):c.3158-14C>T
NM_198253.3(TERT):c.3158-17C>T
NM_198253.3(TERT):c.3158-19A>C rs2126560067
NM_198253.3(TERT):c.3158-20C>T
NM_198253.3(TERT):c.3158-3dup
NM_198253.3(TERT):c.3158-4C>T rs767207462
NM_198253.3(TERT):c.3158-5C>A
NM_198253.3(TERT):c.3158-5C>T rs776804142
NM_198253.3(TERT):c.3158-6C>G
NM_198253.3(TERT):c.3158-6C>T rs1477263719
NM_198253.3(TERT):c.3158-7C>T rs1191106139
NM_198253.3(TERT):c.3158-8T>C rs998490025
NM_198253.3(TERT):c.3158-8del rs2126560028
NM_198253.3(TERT):c.3158-9T>A
NM_198253.3(TERT):c.3159G>C (p.Gly1053=) rs200002330
NM_198253.3(TERT):c.3168G>T (p.Leu1056=) rs1747575515
NM_198253.3(TERT):c.3183C>G (p.Ala1061=)
NM_198253.3(TERT):c.3189C>A (p.Gly1063=) rs1330114272
NM_198253.3(TERT):c.318G>T (p.Gly106=)
NM_198253.3(TERT):c.3198C>A (p.Pro1066=)
NM_198253.3(TERT):c.3207C>G (p.Ala1069=)
NM_198253.3(TERT):c.3222C>T (p.Cys1074=)
NM_198253.3(TERT):c.3237G>A (p.Leu1079=) rs2126559607
NM_198253.3(TERT):c.324C>G (p.Arg108=)
NM_198253.3(TERT):c.3252A>T (p.Arg1084=) rs757638312
NM_198253.3(TERT):c.3255C>T (p.His1085=) rs953571477
NM_198253.3(TERT):c.3273A>C (p.Pro1091=)
NM_198253.3(TERT):c.3276C>A (p.Leu1092=)
NM_198253.3(TERT):c.327G>A (p.Gly109=) rs1060504786
NM_198253.3(TERT):c.327G>T (p.Gly109=) rs1060504786
NM_198253.3(TERT):c.3282G>T (p.Gly1094=)
NM_198253.3(TERT):c.3285A>C (p.Ser1095=) rs2126559367
NM_198253.3(TERT):c.3288C>T (p.Leu1096=) rs2126559357
NM_198253.3(TERT):c.3289A>C (p.Arg1097=)
NM_198253.3(TERT):c.3295+12T>C
NM_198253.3(TERT):c.3295+13G>A rs1747558247
NM_198253.3(TERT):c.3295+20A>G
NM_198253.3(TERT):c.3295+7G>A rs1579542562
NM_198253.3(TERT):c.3296-11T>G rs2126557489
NM_198253.3(TERT):c.3296-15A>G
NM_198253.3(TERT):c.3296-16G>A
NM_198253.3(TERT):c.3296-20G>A rs2126557523
NM_198253.3(TERT):c.3296-4G>A rs780229179
NM_198253.3(TERT):c.3296-4G>C
NM_198253.3(TERT):c.3296-4G>T
NM_198253.3(TERT):c.3296-5C>G rs371015305
NM_198253.3(TERT):c.3296-7C>T rs1579541812
NM_198253.3(TERT):c.3296-9G>T rs1579541842
NM_198253.3(TERT):c.3306G>A (p.Gln1102=)
NM_198253.3(TERT):c.3309G>C (p.Leu1103=)
NM_198253.3(TERT):c.3315G>C (p.Arg1105=)
NM_198253.3(TERT):c.3321C>G (p.Leu1107=) rs1382097700
NM_198253.3(TERT):c.3321C>T (p.Leu1107=) rs1382097700
NM_198253.3(TERT):c.3324G>C (p.Pro1108=) rs35033501
NM_198253.3(TERT):c.3324G>T (p.Pro1108=)
NM_198253.3(TERT):c.3333G>T (p.Thr1111=) rs200102606
NM_198253.3(TERT):c.3334C>T (p.Leu1112=)
NM_198253.3(TERT):c.3336G>A (p.Leu1112=)
NM_198253.3(TERT):c.3336G>C (p.Leu1112=) rs1554038061
NM_198253.3(TERT):c.333C>A (p.Pro111=)
NM_198253.3(TERT):c.333C>G (p.Pro111=)
NM_198253.3(TERT):c.333C>T (p.Pro111=) rs1219645009
NM_198253.3(TERT):c.3342C>T (p.Ala1114=) rs2126557093
NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys) rs1196160200
NM_198253.3(TERT):c.3355G>A (p.Ala1119Thr)
NM_198253.3(TERT):c.3360C>T (p.Asn1120=)
NM_198253.3(TERT):c.336C>G (p.Pro112=) rs2126690338
NM_198253.3(TERT):c.336C>T (p.Pro112=) rs2126690338
NM_198253.3(TERT):c.3372C>G (p.Pro1124=) rs2126556860
NM_198253.3(TERT):c.3381C>T (p.Phe1127=) rs2126556832
NM_198253.3(TERT):c.3391C>T (p.Leu1131=)
NM_198253.3(TERT):c.33C>T (p.Arg11=)
NM_198253.3(TERT):c.342C>T (p.Ala114=)
NM_198253.3(TERT):c.345C>T (p.Phe115=)
NM_198253.3(TERT):c.348C>A (p.Thr116=)
NM_198253.3(TERT):c.348C>T (p.Thr116=)
NM_198253.3(TERT):c.351C>T (p.Thr117=) rs1554043084
NM_198253.3(TERT):c.354C>T (p.Ser118=) rs2126690242
NM_198253.3(TERT):c.360C>G (p.Arg120=)
NM_198253.3(TERT):c.360C>T (p.Arg120=) rs1316553543
NM_198253.3(TERT):c.369G>A (p.Leu123=)
NM_198253.3(TERT):c.369G>T (p.Leu123=) rs1220227495
NM_198253.3(TERT):c.36C>A (p.Ser12=)
NM_198253.3(TERT):c.36C>T (p.Ser12=) rs2126692838
NM_198253.3(TERT):c.372C>T (p.Pro124=)
NM_198253.3(TERT):c.378G>A (p.Thr126=)
NM_198253.3(TERT):c.37C>T (p.Leu13=) rs2126692825
NM_198253.3(TERT):c.384C>G (p.Thr128=)
NM_198253.3(TERT):c.384C>T (p.Thr128=)
NM_198253.3(TERT):c.390A>C (p.Ala130=)
NM_198253.3(TERT):c.399G>C (p.Gly133=) rs767592753
NM_198253.3(TERT):c.39G>T (p.Leu13=) rs1465590201
NM_198253.3(TERT):c.408G>A (p.Ala136=) rs766794006
NM_198253.3(TERT):c.408G>C (p.Ala136=)
NM_198253.3(TERT):c.408G>T (p.Ala136=) rs766794006
NM_198253.3(TERT):c.40C>T (p.Leu14=) rs2126692794
NM_198253.3(TERT):c.414G>A (p.Gly138=) rs767353485
NM_198253.3(TERT):c.414G>T (p.Gly138=) rs767353485
NM_198253.3(TERT):c.420G>C (p.Leu140=) rs746660804
NM_198253.3(TERT):c.426C>T (p.Arg142=) rs1579598521
NM_198253.3(TERT):c.435C>G (p.Gly145=) rs1751245880
NM_198253.3(TERT):c.438C>T (p.Asp146=) rs1579598506
NM_198253.3(TERT):c.447G>A (p.Leu149=) rs778951942
NM_198253.3(TERT):c.447G>C (p.Leu149=) rs778951942
NM_198253.3(TERT):c.453C>T (p.His151=)
NM_198253.3(TERT):c.454C>T (p.Leu152=)
NM_198253.3(TERT):c.457C>T (p.Leu153=)
NM_198253.3(TERT):c.459G>A (p.Leu153=) rs749200840
NM_198253.3(TERT):c.462A>G (p.Ala154=) rs558025297
NM_198253.3(TERT):c.465C>T (p.Arg155=) rs2126689682
NM_198253.3(TERT):c.468C>T (p.Cys156=) rs755843023
NM_198253.3(TERT):c.471G>T (p.Ala157=) rs1751242622
NM_198253.3(TERT):c.474C>T (p.Leu158=)
NM_198253.3(TERT):c.483G>C (p.Leu161=) rs755155708
NM_198253.3(TERT):c.483G>T (p.Leu161=)
NM_198253.3(TERT):c.498C>T (p.Cys166=)
NM_198253.3(TERT):c.501C>T (p.Ala167=) rs2126689545
NM_198253.3(TERT):c.504C>T (p.Tyr168=) rs2126689521
NM_198253.3(TERT):c.507G>A (p.Gln169=)
NM_198253.3(TERT):c.516G>A (p.Gly172=)
NM_198253.3(TERT):c.519G>C (p.Pro173=)
NM_198253.3(TERT):c.522G>A (p.Pro174=)
NM_198253.3(TERT):c.522G>C (p.Pro174=) rs773784305
NM_198253.3(TERT):c.525G>A (p.Leu175=) rs765709243
NM_198253.3(TERT):c.525G>C (p.Leu175=)
NM_198253.3(TERT):c.534C>G (p.Leu178=)
NM_198253.3(TERT):c.537C>G (p.Gly179=) rs1579598350
NM_198253.3(TERT):c.537C>T (p.Gly179=)
NM_198253.3(TERT):c.540T>C (p.Ala180=) rs2126689382
NM_198253.3(TERT):c.543C>G (p.Ala181=)
NM_198253.3(TERT):c.543C>T (p.Ala181=)
NM_198253.3(TERT):c.549G>A (p.Gln183=) rs2126689298
NM_198253.3(TERT):c.54C>T (p.Tyr18=) rs1060504792
NM_198253.3(TERT):c.555G>A (p.Arg185=)
NM_198253.3(TERT):c.558C>T (p.Pro186=) rs2126689243
NM_198253.3(TERT):c.561G>A (p.Pro187=) rs1360926015
NM_198253.3(TERT):c.561G>C (p.Pro187=) rs1360926015
NM_198253.3(TERT):c.561G>T (p.Pro187=) rs1360926015
NM_198253.3(TERT):c.567C>A (p.His189Gln) rs747935528
NM_198253.3(TERT):c.579C>A (p.Pro193=) rs2126689056
NM_198253.3(TERT):c.579C>T (p.Pro193=) rs2126689056
NM_198253.3(TERT):c.57C>T (p.Arg19=)
NM_198253.3(TERT):c.589C>T (p.Leu197=)
NM_198253.3(TERT):c.591G>A (p.Leu197=)
NM_198253.3(TERT):c.603G>A (p.Arg201=) rs538256221
NM_198253.3(TERT):c.606C>G (p.Ala202=) rs1060504785
NM_198253.3(TERT):c.606C>T (p.Ala202=) rs1060504785
NM_198253.3(TERT):c.60G>A (p.Glu20=) rs1751299200
NM_198253.3(TERT):c.624G>T (p.Arg208Ser) rs773987859
NM_198253.3(TERT):c.630C>A (p.Ala210=)
NM_198253.3(TERT):c.633G>A (p.Gly211=)
NM_198253.3(TERT):c.639C>T (p.Pro213=) rs769691692
NM_198253.3(TERT):c.648G>T (p.Leu216=)
NM_198253.3(TERT):c.657G>A (p.Pro219=)
NM_198253.3(TERT):c.657G>C (p.Pro219=)
NM_198253.3(TERT):c.663G>A (p.Ala221=) rs35837567
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.3(TERT):c.666G>A (p.Arg222=)
NM_198253.3(TERT):c.669G>A (p.Arg223=) rs1060504791
NM_198253.3(TERT):c.66G>A (p.Leu22=) rs2126692522
NM_198253.3(TERT):c.672C>G (p.Arg224=) rs996032219
NM_198253.3(TERT):c.675G>A (p.Gly225=)
NM_198253.3(TERT):c.678C>T (p.Gly226=)
NM_198253.3(TERT):c.687C>T (p.Ser229=) rs1554043016
NM_198253.3(TERT):c.688C>A (p.Arg230=) rs989271195
NM_198253.3(TERT):c.693T>C (p.Ser231=)
NM_198253.3(TERT):c.694C>T (p.Leu232=)
NM_198253.3(TERT):c.696G>A (p.Leu232=) rs1033402019
NM_198253.3(TERT):c.696G>T (p.Leu232=) rs1033402019
NM_198253.3(TERT):c.699G>T (p.Pro233=) rs757862712
NM_198253.3(TERT):c.69G>T (p.Pro23=)
NM_198253.3(TERT):c.702G>A (p.Leu234=) rs754359147
NM_198253.3(TERT):c.705C>G (p.Pro235=)
NM_198253.3(TERT):c.708G>A (p.Lys236=) rs1250720718
NM_198253.3(TERT):c.714C>T (p.Pro238=)
NM_198253.3(TERT):c.723C>G (p.Gly241=)
NM_198253.3(TERT):c.723C>T (p.Gly241=) rs1751212637
NM_198253.3(TERT):c.738G>A (p.Pro246=)
NM_198253.3(TERT):c.738G>T (p.Pro246=) rs111527543
NM_198253.3(TERT):c.750C>G (p.Pro250=) rs761741087
NM_198253.3(TERT):c.750C>T (p.Pro250=) rs761741087
NM_198253.3(TERT):c.75C>A (p.Ala25=) rs2126692441
NM_198253.3(TERT):c.774C>T (p.His258=)
NM_198253.3(TERT):c.777G>A (p.Pro259=) rs746036694
NM_198253.3(TERT):c.780C>A (p.Gly260=) rs2126687848
NM_198253.3(TERT):c.783G>A (p.Arg261=) rs1286573582
NM_198253.3(TERT):c.78G>C (p.Thr26=)
NM_198253.3(TERT):c.792A>G (p.Gly264=)
NM_198253.3(TERT):c.795G>T (p.Pro265=)
NM_198253.3(TERT):c.801C>T (p.Asp267=) rs2126687721
NM_198253.3(TERT):c.81C>T (p.Phe27=) rs1377361296
NM_198253.3(TERT):c.829A>C (p.Arg277=)
NM_198253.3(TERT):c.834C>G (p.Pro278=) rs375423906
NM_198253.3(TERT):c.834C>T (p.Pro278=)
NM_198253.3(TERT):c.840A>G (p.Glu280=)
NM_198253.3(TERT):c.849C>T (p.Thr283=)
NM_198253.3(TERT):c.85C>A (p.Arg29=) rs1024973528
NM_198253.3(TERT):c.861T>A (p.Gly287=) rs1579597505
NM_198253.3(TERT):c.864G>A (p.Ala288=) rs2126687319
NM_198253.3(TERT):c.864G>T (p.Ala288=) rs2126687319
NM_198253.3(TERT):c.867C>G (p.Leu289=) rs771194908
NM_198253.3(TERT):c.873C>T (p.Gly291=) rs1554042931
NM_198253.3(TERT):c.876G>A (p.Thr292=) rs1194175606
NM_198253.3(TERT):c.891A>G (p.Pro297=) rs2126687153
NM_198253.3(TERT):c.894C>T (p.Ser298=) rs1312841090
NM_198253.3(TERT):c.897G>T (p.Val299=) rs1554042926
NM_198253.3(TERT):c.90C>G (p.Arg30=) rs776045913
NM_198253.3(TERT):c.90C>T (p.Arg30=) rs776045913
NM_198253.3(TERT):c.912C>T (p.His304=) rs2126686991
NM_198253.3(TERT):c.918C>G (p.Gly306=)
NM_198253.3(TERT):c.918C>T (p.Gly306=) rs919921930
NM_198253.3(TERT):c.921C>G (p.Pro307=)
NM_198253.3(TERT):c.921C>T (p.Pro307=) rs1352359181
NM_198253.3(TERT):c.924A>G (p.Pro308=)
NM_198253.3(TERT):c.930A>G (p.Thr310=)
NM_198253.3(TERT):c.930A>T (p.Thr310=) rs1466834683
NM_198253.3(TERT):c.933G>A (p.Ser311=) rs2126686810
NM_198253.3(TERT):c.936G>A (p.Arg312=) rs1207164857
NM_198253.3(TERT):c.939A>G (p.Pro313=) rs1554042914
NM_198253.3(TERT):c.942A>G (p.Pro314=) rs1060504784
NM_198253.3(TERT):c.945T>A (p.Arg315=)
NM_198253.3(TERT):c.948C>A (p.Pro316=)
NM_198253.3(TERT):c.956C>A (p.Thr319Lys)
NM_198253.3(TERT):c.957G>C (p.Thr319=) rs1018341020
NM_198253.3(TERT):c.966C>G (p.Pro322=) rs1214021171
NM_198253.3(TERT):c.968C>T (p.Pro323Leu) rs139342764
NM_198253.3(TERT):c.969G>C (p.Pro323=) rs148549782
NM_198253.3(TERT):c.978C>A (p.Ala326=)
NM_198253.3(TERT):c.984C>G (p.Thr328=) rs762993766
NM_198253.3(TERT):c.993C>T (p.Phe331=) rs2126686456
NM_198253.3(TERT):c.996C>G (p.Leu332=)
NM_198253.3(TERT):c.9C>T (p.Arg3=) rs1329121371

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.