ClinVar Miner

List of variants studied for Gorlin syndrome

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ClinVar version:
Total variants: 4829
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.*20T>G rs4917980 0.99823
NM_016169.4(SUFU):c.1365+19T>C rs12414407 0.68248
NM_016169.4(SUFU):c.182+16C>T rs2274351 0.46492
NM_000264.5(PTCH1):c.2887+21A>G rs2236406 0.44137
NM_000264.5(PTCH1):c.2560+9G>C rs2066829 0.44128
NM_003738.5(PTCH2):c.2055T>C (p.Ala685=) rs7525308 0.42892
NM_003738.5(PTCH2):c.1590+22A>G rs2273940 0.42724
NM_003738.5(PTCH2):c.265+13C>T rs3795720 0.34867
NM_000264.5(PTCH1):c.*3232G>T rs357565 0.24468
NM_000264.5(PTCH1):c.*3030A>G rs28485160 0.20192
NM_003738.5(PTCH2):c.1821A>G (p.Glu607=) rs2295997 0.18953
NM_003738.5(PTCH2):c.3114+14C>T rs11211040 0.17210
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=) rs2066836 0.15395
NM_003738.5(PTCH2):c.2487C>T (p.Asp829=) rs2295996 0.14124
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=) rs1805155 0.12597
NM_000264.5(PTCH1):c.2250+25T>C rs16909898 0.10561
NM_000264.5(PTCH1):c.*2275T>A rs28380046 0.09501
NM_003738.5(PTCH2):c.2371+17C>T rs7532882 0.07832
NM_000264.5(PTCH1):c.1504-8T>C rs2277184 0.07277
NM_000264.5(PTCH1):c.*237G>C rs28688501 0.06717
NM_000264.5(PTCH1):c.*1373G>C rs16909865 0.05498
NM_000264.5(PTCH1):c.*1905C>G rs113213198 0.04659
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000264.5(PTCH1):c.*1616A>C rs73540181 0.04606
NM_000264.5(PTCH1):c.*1709G>A rs73540175 0.04602
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=) rs2066835 0.03773
NM_000264.5(PTCH1):c.*1702C>T rs115675849 0.02824
NM_003738.5(PTCH2):c.2963C>T (p.Thr988Met) rs11573590 0.02555
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
NM_000264.5(PTCH1):c.*231T>C rs28401363 0.01898
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=) rs11573587 0.01447
NM_000264.5(PTCH1):c.*1535T>C rs112320257 0.01438
NM_000264.5(PTCH1):c.*1545T>C rs113253600 0.01417
NM_003738.5(PTCH2):c.687C>T (p.Ala229=) rs11573576 0.01288
NM_003738.5(PTCH2):c.2355C>T (p.Tyr785=) rs11573588 0.01285
NM_000264.5(PTCH1):c.*2070C>G rs142942544 0.01241
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178 0.01089
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_003738.5(PTCH2):c.90G>A (p.Leu30=) rs45573433 0.00945
NM_000264.5(PTCH1):c.1854C>T (p.Cys618=) rs62637628 0.00887
NM_000264.5(PTCH1):c.*3341T>C rs138499623 0.00884
NM_000264.5(PTCH1):c.*851G>C rs73540186 0.00827
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His) rs139624405 0.00701
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_000264.5(PTCH1):c.*1066A>C rs185406054 0.00673
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=) rs62637630 0.00663
NM_003738.5(PTCH2):c.1371+8A>G rs187485698 0.00661
NM_003738.5(PTCH2):c.1080G>T (p.Val360=) rs11573579 0.00649
NM_000264.5(PTCH1):c.*3157G>A rs118174136 0.00628
NM_000264.5(PTCH1):c.*2276A>T rs868749157 0.00625
NM_003738.5(PTCH2):c.840T>C (p.Ser280=) rs147627670 0.00534
NM_003738.5(PTCH2):c.3216T>C (p.Gly1072=) rs11573596 0.00468
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00466
NM_000264.5(PTCH1):c.*801C>T rs114243832 0.00412
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=) rs34245589 0.00406
NM_000264.5(PTCH1):c.*780C>T rs75765727 0.00386
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=) rs111446700 0.00379
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg) rs199976372 0.00281
NM_000264.5(PTCH1):c.*1708C>T rs146131736 0.00252
NM_000264.5(PTCH1):c.3804+32T>C rs199982439 0.00236
NM_003738.5(PTCH2):c.2695+8T>C rs145066065 0.00211
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) rs11573598 0.00155
NM_003738.5(PTCH2):c.1425G>A (p.Ala475=) rs35851686 0.00152
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135 0.00128
NM_003738.5(PTCH2):c.1593G>A (p.Ala531=) rs11573585 0.00114
NM_003738.5(PTCH2):c.2013C>T (p.Phe671=) rs112563011 0.00108
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His) rs138588008 0.00103
NM_003738.5(PTCH2):c.622C>T (p.Arg208Cys) rs149379394 0.00103
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_003738.5(PTCH2):c.2693G>A (p.Arg898His) rs143534131 0.00097
NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896 0.00088
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=) rs1805156 0.00086
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_003738.5(PTCH2):c.1569G>A (p.Ala523=) rs143390610 0.00084
NM_000264.5(PTCH1):c.*1132G>A rs572803728 0.00083
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_003738.5(PTCH2):c.735G>C (p.Gln245His) rs138577588 0.00083
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_000264.5(PTCH1):c.3805-9C>T rs2236404 0.00072
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=) rs56007343 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_003738.5(PTCH2):c.1083+3C>T rs557532187 0.00066
NM_003738.5(PTCH2):c.1596C>T (p.Ala532=) rs140921885 0.00066
NM_003738.5(PTCH2):c.3184G>A (p.Val1062Met) rs142187073 0.00066
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=) rs145196322 0.00065
NM_000264.5(PTCH1):c.*1896T>C rs949498288 0.00064
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) rs779791579 0.00063
NM_000264.5(PTCH1):c.2050G>A (p.Glu684Lys) rs62637629 0.00061
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000264.5(PTCH1):c.1503+12G>A rs368083214 0.00056
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
NM_000264.5(PTCH1):c.1847+14C>T rs202007968 0.00053
NM_000264.5(PTCH1):c.3449+15G>A rs190483719 0.00052
NM_003738.5(PTCH2):c.321G>A (p.Glu107=) rs143348731 0.00052
NM_000264.5(PTCH1):c.*2175G>A rs188061818 0.00051
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_003738.5(PTCH2):c.1993C>T (p.Arg665Cys) rs138324984 0.00051
NM_000264.5(PTCH1):c.1080G>A (p.Leu360=) rs2066839 0.00049
NM_000264.5(PTCH1):c.2560+8G>A rs201541845 0.00049
NM_000264.5(PTCH1):c.3169-17T>A rs375034864 0.00048
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=) rs139123130 0.00048
NM_003738.5(PTCH2):c.2679G>A (p.Thr893=) rs113617379 0.00046
NM_000264.5(PTCH1):c.1183A>G (p.Ile395Val) rs139498131 0.00043
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_000264.5(PTCH1):c.*450A>C rs192994934 0.00041
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979 0.00041
NM_000264.5(PTCH1):c.945+20G>A rs374618901 0.00040
NM_000264.5(PTCH1):c.*1889G>A rs565918654 0.00037
NM_000264.5(PTCH1):c.3169-12G>A rs371887033 0.00037
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr) rs147669300 0.00037
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092 0.00036
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_003738.5(PTCH2):c.2184C>T (p.Ser728=) rs146379791 0.00035
NM_003738.5(PTCH2):c.3189C>T (p.Thr1063=) rs143986029 0.00035
NM_000264.5(PTCH1):c.*3337T>C rs551093780 0.00032
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839 0.00032
NM_003738.5(PTCH2):c.3340C>T (p.Leu1114=) rs372274925 0.00032
NM_000264.5(PTCH1):c.*478A>G rs937053306 0.00031
NM_000264.5(PTCH1):c.2887+10G>A rs202081420 0.00031
NM_003738.5(PTCH2):c.1591-10C>T rs112892676 0.00031
NM_003738.5(PTCH2):c.2420G>A (p.Arg807His) rs199959462 0.00031
NM_000264.5(PTCH1):c.*787C>T rs144656847 0.00030
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile) rs200873074 0.00028
NM_000264.5(PTCH1):c.1216-6C>A rs186008764 0.00027
NM_003738.5(PTCH2):c.2559C>T (p.Pro853=) rs148265788 0.00026
NM_000264.5(PTCH1):c.2004C>T (p.Tyr668=) rs151216961 0.00025
NM_000264.5(PTCH1):c.2704-6T>C rs182321370 0.00025
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417 0.00025
NM_003738.5(PTCH2):c.1507G>A (p.Val503Ile) rs147284320 0.00025
NM_000264.5(PTCH1):c.*168C>A rs769353632 0.00024
NM_000264.5(PTCH1):c.584+14C>T rs372641261 0.00024
NM_000264.5(PTCH1):c.*3138T>C rs548583404 0.00023
NM_000264.5(PTCH1):c.4218C>T (p.His1406=) rs372558350 0.00023
NM_003738.5(PTCH2):c.3055G>A (p.Val1019Met) rs11573591 0.00023
NM_003738.5(PTCH2):c.606C>T (p.Ser202=) rs61757785 0.00023
NM_016169.4(SUFU):c.50C>T (p.Ala17Val) rs12780580 0.00023
NM_000264.5(PTCH1):c.3195C>T (p.Val1065=) rs370936145 0.00022
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=) rs149398794 0.00021
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967 0.00021
NM_003738.5(PTCH2):c.2782G>A (p.Glu928Lys) rs199998309 0.00021
NM_003738.5(PTCH2):c.2955C>T (p.Asn985=) rs188437092 0.00021
NM_000264.5(PTCH1):c.1488C>T (p.Asn496=) rs577742581 0.00020
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828 0.00020
NM_003738.5(PTCH2):c.14C>T (p.Pro5Leu) rs1252822973 0.00020
NM_000264.5(PTCH1):c.1661G>A (p.Ser554Asn) rs148367880 0.00019
NM_000264.5(PTCH1):c.2044C>T (p.Arg682Cys) rs570441437 0.00019
NM_000264.5(PTCH1):c.3251T>C (p.Val1084Ala) rs1463935039 0.00019
NM_003738.5(PTCH2):c.1880C>G (p.Pro627Arg) rs554684439 0.00018
NM_003738.5(PTCH2):c.526-16G>A rs367706281 0.00018
NM_000264.5(PTCH1):c.*750G>A rs777077097 0.00017
NM_000264.5(PTCH1):c.1728+16T>A rs758961945 0.00017
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=) rs141134542 0.00017
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532 0.00017
NM_003738.5(PTCH2):c.1718C>T (p.Ser573Phe) rs561039899 0.00017
NM_000264.5(PTCH1):c.*3272C>T rs963000528 0.00016
NM_000264.5(PTCH1):c.2484C>T (p.Asn828=) rs143305989 0.00016
NM_000264.5(PTCH1):c.2560+7C>T rs75576651 0.00016
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) rs200620662 0.00016
NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr) rs149547604 0.00016
NM_000264.5(PTCH1):c.567T>C (p.His189=) rs150759973 0.00016
NM_003738.5(PTCH2):c.2432G>A (p.Arg811His) rs112613379 0.00016
NM_003738.5(PTCH2):c.2661C>T (p.His887=) rs149815763 0.00016
NM_003738.5(PTCH2):c.2901C>T (p.Ala967=) rs371861016 0.00016
NM_003738.5(PTCH2):c.2904C>T (p.Val968=) rs138668059 0.00016
NM_003738.5(PTCH2):c.3269C>T (p.Ala1090Val) rs202184038 0.00016
NM_000264.5(PTCH1):c.147T>C (p.Tyr49=) rs141976046 0.00015
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153 0.00015
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met) rs201125580 0.00015
NM_000264.5(PTCH1):c.346T>C (p.Leu116=) rs576398790 0.00015
NM_000264.5(PTCH1):c.*1358G>A rs756098510 0.00014
NM_000264.5(PTCH1):c.*2425A>C rs932959120 0.00014
NM_000264.5(PTCH1):c.2148C>T (p.Ser716=) rs781475120 0.00014
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met) rs149667902 0.00014
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883 0.00014
NM_003738.5(PTCH2):c.2803G>A (p.Ala935Thr) rs144561012 0.00014
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00014
NM_016169.4(SUFU):c.1296+1638C>T rs368920108 0.00014
NM_000264.5(PTCH1):c.2595C>T (p.Thr865=) rs144512837 0.00013
NM_003738.5(PTCH2):c.1112C>G (p.Ala371Gly) rs373859654 0.00013
NM_003738.5(PTCH2):c.1307C>T (p.Ala436Val) rs753185169 0.00013
NM_003738.5(PTCH2):c.1758C>T (p.Asp586=) rs368278021 0.00013
NM_003738.5(PTCH2):c.3183C>T (p.Pro1061=) rs201010330 0.00013
NM_003738.5(PTCH2):c.3257+3del rs758457727 0.00013
NM_000264.5(PTCH1):c.*859C>T rs775198573 0.00012
NM_000264.5(PTCH1):c.2528T>C (p.Met843Thr) rs145217620 0.00012
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser) rs570091335 0.00012
NM_000264.5(PTCH1):c.3027C>T (p.Tyr1009=) rs747234651 0.00012
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=) rs200435277 0.00012
NM_000264.5(PTCH1):c.896C>T (p.Pro299Leu) rs141939274 0.00012
NM_003738.5(PTCH2):c.1367C>A (p.Thr456Asn) rs546170078 0.00012
NM_003738.5(PTCH2):c.1533C>T (p.Ala511=) rs76854674 0.00012
NM_003738.5(PTCH2):c.2155C>T (p.Arg719Trp) rs200355030 0.00012
NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg) rs587780697 0.00011
NM_000264.5(PTCH1):c.2561-7T>C rs112140654 0.00011
NM_000264.5(PTCH1):c.560G>A (p.Arg187His) rs138034434 0.00011
NM_003738.5(PTCH2):c.302A>G (p.Lys101Arg) rs375651844 0.00011
NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val) rs147567317 0.00011
NM_003738.5(PTCH2):c.3114+18G>A rs200966764 0.00011
NM_003738.5(PTCH2):c.3589G>A (p.Gly1197Arg) rs55651071 0.00011
NM_000264.5(PTCH1):c.*2644A>C rs773680534 0.00010
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759 0.00010
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=) rs145690756 0.00010
NM_000264.5(PTCH1):c.1848-17G>T rs375623107 0.00010
NM_000264.5(PTCH1):c.2859C>T (p.Ala953=) rs142131559 0.00010
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) rs144182921 0.00010
NM_000264.5(PTCH1):c.3716G>A (p.Arg1239Gln) rs758728491 0.00010
NM_000264.5(PTCH1):c.3889C>T (p.Arg1297Trp) rs372027952 0.00010
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His) rs779365332 0.00010
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952 0.00010
NM_003738.5(PTCH2):c.1243C>T (p.Arg415Trp) rs143737414 0.00010
NM_003738.5(PTCH2):c.1284C>T (p.Ala428=) rs200293188 0.00010
NM_003738.5(PTCH2):c.2262C>T (p.Arg754=) rs368434333 0.00010
NM_003738.5(PTCH2):c.627G>A (p.Pro209=) rs373848645 0.00010
NM_000264.5(PTCH1):c.*2795G>T rs773035324 0.00009
NM_000264.5(PTCH1):c.1002T>C (p.Tyr334=) rs145867500 0.00009
NM_000264.5(PTCH1):c.1247C>G (p.Thr416Ser) rs201174718 0.00009
NM_000264.5(PTCH1):c.174C>T (p.Ala58=) rs368563182 0.00009
NM_000264.5(PTCH1):c.1800A>G (p.Leu600=) rs768939676 0.00009
NM_000264.5(PTCH1):c.2215C>T (p.His739Tyr) rs200189314 0.00009
NM_000264.5(PTCH1):c.2333C>T (p.Thr778Met) rs747762028 0.00009
NM_000264.5(PTCH1):c.2771C>T (p.Thr924Met) rs1456450494 0.00009
NM_000264.5(PTCH1):c.3531C>T (p.Phe1177=) rs587780702 0.00009
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=) rs369295226 0.00009
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606 0.00009
NM_003738.5(PTCH2):c.1592C>T (p.Ala531Val) rs766965501 0.00009
NM_003738.5(PTCH2):c.2196G>A (p.Arg732=) rs369083877 0.00009
NM_003738.5(PTCH2):c.347T>C (p.Ile116Thr) rs200800966 0.00009
NM_003738.5(PTCH2):c.703C>T (p.Arg235Trp) rs200366479 0.00009
NM_000264.5(PTCH1):c.*2737C>A rs1038475537 0.00008
NM_000264.5(PTCH1):c.*762G>C rs763571205 0.00008
NM_000264.5(PTCH1):c.1308C>T (p.Asp436=) rs148471237 0.00008
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000264.5(PTCH1):c.2170G>A (p.Glu724Lys) rs144501989 0.00008
NM_000264.5(PTCH1):c.3792C>T (p.Phe1264=) rs144312968 0.00008
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275 0.00008
NM_000264.5(PTCH1):c.420A>G (p.Leu140=) rs372559495 0.00008
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=) rs201357130 0.00008
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00008
NM_003738.5(PTCH2):c.1563C>T (p.Ile521=) rs141511043 0.00008
NM_003738.5(PTCH2):c.3154G>A (p.Ala1052Thr) rs139590197 0.00008
NM_000264.5(PTCH1):c.*1648A>G rs1057515713 0.00007
NM_000264.5(PTCH1):c.-78G>A rs572958276 0.00007
NM_000264.5(PTCH1):c.201+19C>T rs765308113 0.00007
NM_000264.5(PTCH1):c.2124A>G (p.Thr708=) rs147204440 0.00007
NM_000264.5(PTCH1):c.2794G>A (p.Val932Ile) rs376084632 0.00007
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629 0.00007
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg) rs767792734 0.00007
NM_000264.5(PTCH1):c.3805-14C>G rs771678354 0.00007
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=) rs139071993 0.00007
NM_000264.5(PTCH1):c.882C>T (p.Arg294=) rs145893445 0.00007
NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu) rs370755364 0.00007
NM_003738.5(PTCH2):c.1371+5G>A rs532682199 0.00007
NM_003738.5(PTCH2):c.2059-4G>A rs547468737 0.00007
NM_003738.5(PTCH2):c.2678C>T (p.Thr893Met) rs199596045 0.00007
NM_003738.5(PTCH2):c.3139C>T (p.Arg1047Trp) rs758245867 0.00007
NM_003738.5(PTCH2):c.623G>A (p.Arg208His) rs768496761 0.00007
NM_003738.5(PTCH2):c.998G>A (p.Arg333Gln) rs146689795 0.00007
NM_000264.5(PTCH1):c.*623C>T rs776158552 0.00006
NM_000264.5(PTCH1):c.-122G>A rs980754274 0.00006
NM_000264.5(PTCH1):c.1342C>A (p.Leu448Ile) rs537871675 0.00006
NM_000264.5(PTCH1):c.146A>G (p.Tyr49Cys) rs774156512 0.00006
NM_000264.5(PTCH1):c.1713G>T (p.Arg571=) rs762575636 0.00006
NM_000264.5(PTCH1):c.1808G>A (p.Arg603His) rs199523893 0.00006
NM_000264.5(PTCH1):c.1998G>A (p.Thr666=) rs369710438 0.00006
NM_000264.5(PTCH1):c.2074G>A (p.Val692Met) rs758487789 0.00006
NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala) rs45579032 0.00006
NM_000264.5(PTCH1):c.2560+11G>A rs774494594 0.00006
NM_000264.5(PTCH1):c.2689A>G (p.Ile897Val) rs758483793 0.00006
NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn) rs531947455 0.00006
NM_000264.5(PTCH1):c.3449+11G>A rs568528640 0.00006
NM_000264.5(PTCH1):c.3516C>T (p.Pro1172=) rs775292833 0.00006
NM_000264.5(PTCH1):c.3648C>T (p.Ser1216=) rs377608291 0.00006
NM_000264.5(PTCH1):c.4025G>A (p.Arg1342His) rs575146278 0.00006
NM_000264.5(PTCH1):c.4134T>C (p.Thr1378=) rs775499386 0.00006
NM_000264.5(PTCH1):c.4212T>C (p.Thr1404=) rs139086753 0.00006
NM_000264.5(PTCH1):c.4255C>T (p.Arg1419Trp) rs139942632 0.00006
NM_000264.5(PTCH1):c.4311C>T (p.Cys1437=) rs368571026 0.00006
NM_000264.5(PTCH1):c.946-13C>T rs200749389 0.00006
NM_003738.5(PTCH2):c.1016A>G (p.His339Arg) rs561823980 0.00006
NM_003738.5(PTCH2):c.1110C>T (p.Asn370=) rs575126296 0.00006
NM_003738.5(PTCH2):c.1255G>A (p.Ala419Thr) rs765975927 0.00006
NM_003738.5(PTCH2):c.1591-9G>A rs377454394 0.00006
NM_003738.5(PTCH2):c.1844C>A (p.Thr615Asn) rs528004785 0.00006
NM_003738.5(PTCH2):c.1881T>C (p.Pro627=) rs138458854 0.00006
NM_003738.5(PTCH2):c.2059-5C>T rs199815682 0.00006
NM_003738.5(PTCH2):c.2064C>T (p.Ile688=) rs755030599 0.00006
NM_003738.5(PTCH2):c.2172T>C (p.His724=) rs372907480 0.00006
NM_003738.5(PTCH2):c.2248G>A (p.Ala750Thr) rs529700882 0.00006
NM_003738.5(PTCH2):c.2261G>A (p.Arg754His) rs757344433 0.00006
NM_003738.5(PTCH2):c.2263G>A (p.Ala755Thr) rs200862802 0.00006
NM_003738.5(PTCH2):c.2431C>T (p.Arg811Cys) rs144449175 0.00006
NM_003738.5(PTCH2):c.2583C>T (p.Thr861=) rs764888111 0.00006
NM_003738.5(PTCH2):c.2823G>C (p.Gly941=) rs779998161 0.00006
NM_003738.5(PTCH2):c.2964G>A (p.Thr988=) rs746706776 0.00006
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro) rs80168454 0.00006
NM_003738.5(PTCH2):c.3190G>A (p.Asp1064Asn) rs758108389 0.00006
NM_003738.5(PTCH2):c.704G>A (p.Arg235Gln) rs376337405 0.00006
NM_003738.5(PTCH2):c.865A>G (p.Lys289Glu) rs766393257 0.00006
NM_000264.5(PTCH1):c.1404C>T (p.Ala468=) rs201246004 0.00005
NM_000264.5(PTCH1):c.2068G>A (p.Val690Ile) rs750970743 0.00005
NM_000264.5(PTCH1):c.2497A>G (p.Met833Val) rs771222407 0.00005
NM_000264.5(PTCH1):c.2704-10G>A rs566679986 0.00005
NM_000264.5(PTCH1):c.2704-11C>T rs779097397 0.00005
NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln) rs201118857 0.00005
NM_000264.5(PTCH1):c.3178C>T (p.Leu1060=) rs765072884 0.00005
NM_000264.5(PTCH1):c.3561C>G (p.Ala1187=) rs1161608601 0.00005
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His) rs771238114 0.00005
NM_000264.5(PTCH1):c.4256G>A (p.Arg1419Gln) rs372686352 0.00005
NM_003738.5(PTCH2):c.132C>G (p.Leu44=) rs778649189 0.00005
NM_003738.5(PTCH2):c.1561A>C (p.Ile521Leu) rs1159508966 0.00005
NM_003738.5(PTCH2):c.1768C>A (p.Pro590Thr) rs776592479 0.00005
NM_003738.5(PTCH2):c.190T>C (p.Leu64=) rs199655603 0.00005
NM_003738.5(PTCH2):c.2410C>T (p.Arg804Cys) rs146570996 0.00005
NM_003738.5(PTCH2):c.2472C>T (p.Leu824=) rs377186488 0.00005
NM_003738.5(PTCH2):c.2743C>T (p.Arg915Cys) rs758477982 0.00005
NM_003738.5(PTCH2):c.608C>T (p.Ala203Val) rs968580747 0.00005
NM_016169.4(SUFU):c.183-4G>A rs766044613 0.00005
NM_000264.5(PTCH1):c.*1153C>G rs770443972 0.00004
NM_000264.5(PTCH1):c.101G>C (p.Arg34Thr) rs771847879 0.00004
NM_000264.5(PTCH1):c.1063G>A (p.Val355Ile) rs555332902 0.00004
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 0.00004
NM_000264.5(PTCH1):c.1223A>G (p.His408Arg) rs763941524 0.00004
NM_000264.5(PTCH1):c.1388C>G (p.Ser463Cys) rs764195249 0.00004
NM_000264.5(PTCH1):c.142G>T (p.Asp48Tyr) rs745685305 0.00004
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser) rs181192122 0.00004
NM_000264.5(PTCH1):c.1710G>T (p.Leu570=) rs374924167 0.00004
NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn) rs559293815 0.00004
NM_000264.5(PTCH1):c.1994G>A (p.Arg665His) rs139705799 0.00004
NM_000264.5(PTCH1):c.2015C>T (p.Thr672Met) rs372219420 0.00004
NM_000264.5(PTCH1):c.2049C>T (p.Ser683=) rs756242911 0.00004
NM_000264.5(PTCH1):c.2439G>A (p.Pro813=) rs151266988 0.00004
NM_000264.5(PTCH1):c.2561-10C>T rs763935951 0.00004
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573 0.00004
NM_000264.5(PTCH1):c.2703+14T>C rs764551190 0.00004
NM_000264.5(PTCH1):c.2814G>A (p.Gln938=) rs587780534 0.00004
NM_000264.5(PTCH1):c.2865C>T (p.Tyr955=) rs764854579 0.00004
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val) rs587780699 0.00004
NM_000264.5(PTCH1):c.2892G>A (p.Pro964=) rs377213209 0.00004
NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met) rs769924767 0.00004
NM_000264.5(PTCH1):c.3169-11C>T rs377346472 0.00004
NM_000264.5(PTCH1):c.3338G>A (p.Arg1113His) rs143781513 0.00004
NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=) rs369760318 0.00004
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val) rs376844749 0.00004
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn) rs749542089 0.00004
NM_000264.5(PTCH1):c.3450-15C>T rs755474627 0.00004
NM_000264.5(PTCH1):c.3549+14C>T rs753297713 0.00004
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His) rs762040036 0.00004
NM_000264.5(PTCH1):c.3669G>A (p.Ser1223=) rs780515178 0.00004
NM_000264.5(PTCH1):c.3752C>A (p.Ala1251Asp) rs747739936 0.00004
NM_000264.5(PTCH1):c.3786C>T (p.Pro1262=) rs756182319 0.00004
NM_000264.5(PTCH1):c.3817G>A (p.Glu1273Lys) rs749244396 0.00004
NM_000264.5(PTCH1):c.3840G>A (p.Ser1280=) rs750770371 0.00004
NM_000264.5(PTCH1):c.394+12C>T rs371356396 0.00004
NM_000264.5(PTCH1):c.3948C>T (p.Tyr1316=) rs778029634 0.00004
NM_000264.5(PTCH1):c.3960A>G (p.Arg1320=) rs371761874 0.00004
NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys) rs781539921 0.00004
NM_000264.5(PTCH1):c.404G>A (p.Arg135Gln) rs375628555 0.00004
NM_000264.5(PTCH1):c.4059G>A (p.Ala1353=) rs368110756 0.00004
NM_000264.5(PTCH1):c.4076G>A (p.Ser1359Asn) rs745451899 0.00004
NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=) rs375588552 0.00004
NM_000264.5(PTCH1):c.4137C>T (p.Val1379=) rs149091602 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000264.5(PTCH1):c.4275G>A (p.Ser1425=) rs756270271 0.00004
NM_000264.5(PTCH1):c.4281G>A (p.Val1427=) rs767698482 0.00004
NM_000264.5(PTCH1):c.584+10G>A rs765713791 0.00004
NM_000264.5(PTCH1):c.584+19A>G rs374707429 0.00004
NM_000264.5(PTCH1):c.588G>A (p.Gln196=) rs775859621 0.00004
NM_000264.5(PTCH1):c.624G>A (p.Glu208=) rs777231059 0.00004
NM_000264.5(PTCH1):c.71C>T (p.Pro24Leu) rs767973616 0.00004
NM_000264.5(PTCH1):c.897G>A (p.Pro299=) rs56141639 0.00004
NM_000264.5(PTCH1):c.91G>A (p.Gly31Arg) rs768512190 0.00004
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln) rs185570125 0.00004
NM_003738.5(PTCH2):c.1090C>G (p.Gln364Glu) rs1315638429 0.00004
NM_003738.5(PTCH2):c.1223A>G (p.Tyr408Cys) rs140845138 0.00004
NM_003738.5(PTCH2):c.1267G>A (p.Gly423Ser) rs371644875 0.00004
NM_003738.5(PTCH2):c.1272C>T (p.Ser424=) rs56016752 0.00004
NM_003738.5(PTCH2):c.1372-19C>T rs372260495 0.00004
NM_003738.5(PTCH2):c.1395A>G (p.Gly465=) rs375606003 0.00004
NM_003738.5(PTCH2):c.1519A>G (p.Ile507Val) rs139931596 0.00004
NM_003738.5(PTCH2):c.1554C>T (p.Leu518=) rs775872062 0.00004
NM_003738.5(PTCH2):c.1591-12T>C rs757224543 0.00004
NM_003738.5(PTCH2):c.1598T>C (p.Ile533Thr) rs61751010 0.00004
NM_003738.5(PTCH2):c.1759G>A (p.Gly587Arg) rs375844056 0.00004
NM_003738.5(PTCH2):c.1790C>A (p.Thr597Asn) rs201345708 0.00004
NM_003738.5(PTCH2):c.184G>A (p.Gly62Arg) rs751954698 0.00004
NM_003738.5(PTCH2):c.2065G>A (p.Val689Met) rs748318921 0.00004
NM_003738.5(PTCH2):c.2142G>A (p.Thr714=) rs200329309 0.00004
NM_003738.5(PTCH2):c.2372-4C>T rs192320525 0.00004
NM_003738.5(PTCH2):c.2419C>T (p.Arg807Cys) rs376171572 0.00004
NM_003738.5(PTCH2):c.2459C>T (p.Ala820Val) rs140437473 0.00004
NM_003738.5(PTCH2):c.2884C>T (p.Arg962Cys) rs746328425 0.00004
NM_003738.5(PTCH2):c.2976+2T>C rs760436790 0.00004
NM_003738.5(PTCH2):c.3114+7A>T rs377379786 0.00004
NM_003738.5(PTCH2):c.3210G>C (p.Leu1070Phe) rs138220875 0.00004
NM_003738.5(PTCH2):c.3270G>A (p.Ala1090=) rs752886480 0.00004
NM_003738.5(PTCH2):c.3280G>C (p.Val1094Leu) rs148142832 0.00004
NM_003738.5(PTCH2):c.3607G>A (p.Gly1203Arg) rs369587910 0.00004
NM_003738.5(PTCH2):c.446T>A (p.Leu149His) rs111283762 0.00004
NM_003738.5(PTCH2):c.455+13G>A rs369547068 0.00004
NM_003738.5(PTCH2):c.603C>G (p.Gly201=) rs201603163 0.00004
NM_000264.5(PTCH1):c.*153T>C rs576864680 0.00003
NM_000264.5(PTCH1):c.*2180C>T rs1357696436 0.00003
NM_000264.5(PTCH1):c.*3111G>A rs1395471972 0.00003
NM_000264.5(PTCH1):c.*556G>A rs964764151 0.00003
NM_000264.5(PTCH1):c.107C>G (p.Thr36Arg) rs1449765833 0.00003
NM_000264.5(PTCH1):c.1164C>T (p.Asn388=) rs201602238 0.00003
NM_000264.5(PTCH1):c.1215+19C>T rs755461123 0.00003
NM_000264.5(PTCH1):c.123T>C (p.Arg41=) rs368070922 0.00003
NM_000264.5(PTCH1):c.1293G>A (p.Leu431=) rs200313703 0.00003
NM_000264.5(PTCH1):c.1347+10G>A rs370916305 0.00003
NM_000264.5(PTCH1):c.1347+15C>T rs377622963 0.00003
NM_000264.5(PTCH1):c.1348-4G>A rs772826555 0.00003
NM_000264.5(PTCH1):c.134C>G (p.Pro45Arg) rs587780692 0.00003
NM_000264.5(PTCH1):c.1350C>T (p.Leu450=) rs369109033 0.00003
NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp) rs138729094 0.00003
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile) rs766898310 0.00003
NM_000264.5(PTCH1):c.1473C>T (p.Ile491=) rs768183391 0.00003
NM_000264.5(PTCH1):c.1608G>A (p.Arg536=) rs747086234 0.00003
NM_000264.5(PTCH1):c.1934A>G (p.Tyr645Cys) rs772841736 0.00003
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000264.5(PTCH1):c.201+16T>C rs766739273 0.00003
NM_000264.5(PTCH1):c.208G>A (p.Ala70Thr) rs753960393 0.00003
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=) rs201103723 0.00003
NM_000264.5(PTCH1):c.2506G>A (p.Glu836Lys) rs78708791 0.00003
NM_000264.5(PTCH1):c.2751C>T (p.Ser917=) rs768127089 0.00003
NM_000264.5(PTCH1):c.2788G>A (p.Asp930Asn) rs539755311 0.00003
NM_000264.5(PTCH1):c.2792C>G (p.Pro931Arg) rs772928587 0.00003
NM_000264.5(PTCH1):c.2850C>T (p.His950=) rs200776583 0.00003
NM_000264.5(PTCH1):c.2887+19G>C rs778051088 0.00003
NM_000264.5(PTCH1):c.2988C>T (p.Thr996=) rs759501618 0.00003
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val) rs774440323 0.00003
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=) rs751797047 0.00003
NM_000264.5(PTCH1):c.3201G>C (p.Leu1067=) rs370906015 0.00003
NM_000264.5(PTCH1):c.3240C>T (p.Ala1080=) rs200347952 0.00003
NM_000264.5(PTCH1):c.3246C>T (p.Pro1082=) rs750725851 0.00003
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=) rs141016655 0.00003
NM_000264.5(PTCH1):c.3371C>T (p.Ala1124Val) rs374187104 0.00003
NM_000264.5(PTCH1):c.3390C>T (p.Ala1130=) rs762637887 0.00003
NM_000264.5(PTCH1):c.3540A>G (p.Pro1180=) rs930364103 0.00003
NM_000264.5(PTCH1):c.3616C>T (p.Arg1206Cys) rs772537644 0.00003
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu) rs781062564 0.00003
NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser) rs559827048 0.00003
NM_000264.5(PTCH1):c.3639C>T (p.His1213=) rs761797443 0.00003
NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met) rs200029534 0.00003
NM_000264.5(PTCH1):c.3739G>A (p.Ala1247Thr) rs369966295 0.00003
NM_000264.5(PTCH1):c.3758A>G (p.Gln1253Arg) rs146390067 0.00003
NM_000264.5(PTCH1):c.379G>A (p.Glu127Lys) rs774822170 0.00003
NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile) rs938997251 0.00003
NM_000264.5(PTCH1):c.3881C>T (p.Pro1294Leu) rs767166469 0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 0.00003
NM_000264.5(PTCH1):c.3904C>T (p.Pro1302Ser) rs747093389 0.00003
NM_000264.5(PTCH1):c.4012C>T (p.Arg1338Cys) rs374346190 0.00003
NM_000264.5(PTCH1):c.4087G>A (p.Gly1363Ser) rs767625820 0.00003
NM_000264.5(PTCH1):c.4140C>T (p.Ala1380=) rs752595145 0.00003
NM_000264.5(PTCH1):c.4144C>T (p.His1382Tyr) rs377484697 0.00003
NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp) rs45535032 0.00003
NM_000264.5(PTCH1):c.4181G>A (p.Arg1394Gln) rs748812637 0.00003
NM_000264.5(PTCH1):c.4185G>A (p.Gly1395=) rs769616992 0.00003
NM_000264.5(PTCH1):c.4186G>A (p.Gly1396Arg) rs1060502276 0.00003
NM_000264.5(PTCH1):c.4251C>T (p.His1417=) rs371960721 0.00003
NM_000264.5(PTCH1):c.4312G>A (p.Glu1438Lys) rs768254901 0.00003
NM_000264.5(PTCH1):c.4321C>T (p.Pro1441Ser) rs746800536 0.00003
NM_000264.5(PTCH1):c.46G>A (p.Gly16Ser) rs1057515721 0.00003
NM_000264.5(PTCH1):c.543G>A (p.Ser181=) rs1461606997 0.00003
NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser) rs778460384 0.00003
NM_000264.5(PTCH1):c.56G>T (p.Gly19Val) rs587780708 0.00003
NM_000264.5(PTCH1):c.654+13C>G rs746323188 0.00003
NM_000264.5(PTCH1):c.655-12T>C rs376472172 0.00003
NM_000264.5(PTCH1):c.69C>T (p.Ala23=) rs753155080 0.00003
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro) rs372422922 0.00003
NM_000264.5(PTCH1):c.74G>A (p.Gly25Glu) rs774712511 0.00003
NM_000264.5(PTCH1):c.899C>T (p.Ala300Val) rs1421967825 0.00003
NM_000264.5(PTCH1):c.900C>T (p.Ala300=) rs201962105 0.00003
NM_000264.5(PTCH1):c.930C>T (p.Asn310=) rs768166430 0.00003
NM_000264.5(PTCH1):c.945+19C>T rs538776608 0.00003
NM_000264.5(PTCH1):c.975T>C (p.Gly325=) rs149018937 0.00003
NM_003738.5(PTCH2):c.1036G>C (p.Glu346Gln) rs11573578 0.00003
NM_003738.5(PTCH2):c.1054C>T (p.Leu352=) rs200855030 0.00003
NM_003738.5(PTCH2):c.1083+4G>A rs370819522 0.00003
NM_003738.5(PTCH2):c.1465-3C>A rs749158562 0.00003
NM_003738.5(PTCH2):c.1568C>T (p.Ala523Val) rs200216295 0.00003
NM_003738.5(PTCH2):c.162T>C (p.His54=) rs375847993 0.00003
NM_003738.5(PTCH2):c.1663C>T (p.Arg555Trp) rs369481564 0.00003
NM_003738.5(PTCH2):c.1756G>T (p.Asp586Tyr) rs751113988 0.00003
NM_003738.5(PTCH2):c.1951G>A (p.Glu651Lys) rs866056830 0.00003
NM_003738.5(PTCH2):c.2097G>C (p.Leu699=) rs779189611 0.00003
NM_003738.5(PTCH2):c.221G>A (p.Arg74His) rs771760736 0.00003
NM_003738.5(PTCH2):c.229A>G (p.Ile77Val) rs774219740 0.00003
NM_003738.5(PTCH2):c.2640C>T (p.Pro880=) rs560873168 0.00003
NM_003738.5(PTCH2):c.2692C>T (p.Arg898Cys) rs759692145 0.00003
NM_003738.5(PTCH2):c.2776G>T (p.Ala926Ser) rs764506722 0.00003
NM_003738.5(PTCH2):c.2877C>G (p.Gly959=) rs567163200 0.00003
NM_003738.5(PTCH2):c.2882G>A (p.Arg961Gln) rs369745249 0.00003
NM_003738.5(PTCH2):c.2931C>T (p.Leu977=) rs145617280 0.00003
NM_003738.5(PTCH2):c.2954A>G (p.Asn985Ser) rs752127255 0.00003
NM_003738.5(PTCH2):c.2975T>C (p.Ile992Thr) rs776299795 0.00003
NM_003738.5(PTCH2):c.3166G>C (p.Glu1056Gln) rs1488300164 0.00003
NM_003738.5(PTCH2):c.3170A>G (p.His1057Arg) rs775788908 0.00003
NM_003738.5(PTCH2):c.3263T>A (p.Phe1088Tyr) rs200049774 0.00003
NM_003738.5(PTCH2):c.3483C>G (p.Thr1161=) rs750066989 0.00003
NM_003738.5(PTCH2):c.44C>T (p.Thr15Ile) rs561781541 0.00003
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) rs747885797 0.00003
NM_003738.5(PTCH2):c.626C>G (p.Pro209Arg) rs372348401 0.00003
NM_003738.5(PTCH2):c.755G>A (p.Cys252Tyr) rs756377856 0.00003
NM_003738.5(PTCH2):c.832G>A (p.Glu278Lys) rs749103409 0.00003
NM_003738.5(PTCH2):c.945C>T (p.Ala315=) rs201325645 0.00003
NM_000264.5(PTCH1):c.*1167A>G rs192352160 0.00002
NM_000264.5(PTCH1):c.*1220A>G rs930382710 0.00002
NM_000264.5(PTCH1):c.*1885G>A rs892705165 0.00002
NM_000264.5(PTCH1):c.1039G>C (p.Val347Leu) rs1060502279 0.00002
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn) rs779294007 0.00002
NM_000264.5(PTCH1):c.104G>A (p.Arg35Gln) rs587778627 0.00002
NM_000264.5(PTCH1):c.1058A>G (p.Lys353Arg) rs757579309 0.00002
NM_000264.5(PTCH1):c.1067+14C>T rs759069478 0.00002
NM_000264.5(PTCH1):c.1067G>A (p.Ser356Asn) rs764579762 0.00002
NM_000264.5(PTCH1):c.1069G>A (p.Ala357Thr) rs779204091 0.00002
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys) rs144323077 0.00002
NM_000264.5(PTCH1):c.1140G>A (p.Glu380=) rs764896299 0.00002
NM_000264.5(PTCH1):c.1192G>A (p.Ala398Thr) rs937023804 0.00002
NM_000264.5(PTCH1):c.1207T>C (p.Tyr403His) rs1349048226 0.00002
NM_000264.5(PTCH1):c.1215+14C>T rs367857273 0.00002
NM_000264.5(PTCH1):c.1216-10G>A rs587780691 0.00002
NM_000264.5(PTCH1):c.1275G>A (p.Thr425=) rs150837425 0.00002
NM_000264.5(PTCH1):c.129C>T (p.Ala43=) rs763200358 0.00002
NM_000264.5(PTCH1):c.1324G>A (p.Val442Met) rs759493890 0.00002
NM_000264.5(PTCH1):c.1332C>T (p.Ser444=) rs373930674 0.00002
NM_000264.5(PTCH1):c.1348-20C>T rs771558986 0.00002
NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr) rs142791675 0.00002
NM_000264.5(PTCH1):c.136G>C (p.Asp46His) rs760670294 0.00002
NM_000264.5(PTCH1):c.1376G>A (p.Arg459His) rs140537949 0.00002
NM_000264.5(PTCH1):c.1504-3dup rs762810537 0.00002
NM_000264.5(PTCH1):c.1551T>C (p.Leu517=) rs983687905 0.00002
NM_000264.5(PTCH1):c.155G>A (p.Arg52Gln) rs777207639 0.00002
NM_000264.5(PTCH1):c.1593C>T (p.Ile531=) rs587780694 0.00002
NM_000264.5(PTCH1):c.1629C>T (p.Arg543=) rs557468315 0.00002
NM_000264.5(PTCH1):c.1729-5C>T rs763030829 0.00002
NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys) rs778627715 0.00002
NM_000264.5(PTCH1):c.1855G>A (p.Val619Ile) rs1060502266 0.00002
NM_000264.5(PTCH1):c.1902C>T (p.His634=) rs761015917 0.00002
NM_000264.5(PTCH1):c.1912C>T (p.Arg638Cys) rs1053507002 0.00002
NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) rs149762881 0.00002
NM_000264.5(PTCH1):c.202-6C>T rs779129066 0.00002
NM_000264.5(PTCH1):c.2043G>A (p.Pro681=) rs745862347 0.00002
NM_000264.5(PTCH1):c.2067C>T (p.Pro689=) rs758799508 0.00002
NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg) rs368362152 0.00002
NM_000264.5(PTCH1):c.2139C>T (p.Ser713=) rs143630307 0.00002
NM_000264.5(PTCH1):c.2169C>T (p.Leu723=) rs1176604355 0.00002
NM_000264.5(PTCH1):c.217C>T (p.Arg73Trp) rs751511116 0.00002
NM_000264.5(PTCH1):c.2248A>G (p.Lys750Glu) rs1239869539 0.00002
NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile) rs878853850 0.00002
NM_000264.5(PTCH1):c.2348G>A (p.Arg783Gln) rs779296683 0.00002
NM_000264.5(PTCH1):c.237G>A (p.Leu79=) rs547602299 0.00002
NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys) rs151310492 0.00002
NM_000264.5(PTCH1):c.2610A>C (p.Pro870=) rs762087413 0.00002
NM_000264.5(PTCH1):c.2793C>T (p.Pro931=) rs1162747889 0.00002
NM_000264.5(PTCH1):c.2797G>A (p.Ala933Thr) rs373120584 0.00002
NM_000264.5(PTCH1):c.2938G>A (p.Gly980Ser) rs778337760 0.00002
NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=) rs142362404 0.00002
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=) rs755755175 0.00002
NM_000264.5(PTCH1):c.3067G>A (p.Gly1023Ser) rs752317944 0.00002
NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met) rs760902564 0.00002
NM_000264.5(PTCH1):c.3124G>A (p.Val1042Met) rs772406487 0.00002
NM_000264.5(PTCH1):c.3159C>T (p.Ala1053=) rs780700622 0.00002
NM_000264.5(PTCH1):c.3183G>A (p.Ala1061=) rs878853854 0.00002
NM_000264.5(PTCH1):c.3222C>T (p.Ile1074=) rs749448606 0.00002
NM_000264.5(PTCH1):c.3298G>A (p.Val1100Ile) rs577110118 0.00002
NM_000264.5(PTCH1):c.3391G>A (p.Val1131Met) rs566619057 0.00002
NM_000264.5(PTCH1):c.3429T>C (p.Ser1143=) rs778900289 0.00002
NM_000264.5(PTCH1):c.3541T>C (p.Tyr1181His) rs367784268 0.00002
NM_000264.5(PTCH1):c.3610G>A (p.Val1204Met) rs370675945 0.00002
NM_000264.5(PTCH1):c.3621C>T (p.Phe1207=) rs778335980 0.00002
NM_000264.5(PTCH1):c.3623C>T (p.Ala1208Val) rs914090288 0.00002
NM_000264.5(PTCH1):c.3631C>T (p.Pro1211Ser) rs139495263 0.00002
NM_000264.5(PTCH1):c.3642G>A (p.Thr1214=) rs143974523 0.00002
NM_000264.5(PTCH1):c.3649G>A (p.Gly1217Arg) rs768986314 0.00002
NM_000264.5(PTCH1):c.3676A>G (p.Ser1226Gly) rs890755179 0.00002
NM_000264.5(PTCH1):c.3686C>T (p.Thr1229Met) rs781080456 0.00002
NM_000264.5(PTCH1):c.3724G>A (p.Glu1242Lys) rs779417284 0.00002
NM_000264.5(PTCH1):c.3741G>A (p.Ala1247=) rs772544302 0.00002
NM_000264.5(PTCH1):c.3793G>A (p.Ala1265Thr) rs759791227 0.00002
NM_000264.5(PTCH1):c.382C>T (p.Leu128=) rs772674190 0.00002
NM_000264.5(PTCH1):c.3846G>A (p.Pro1282=) rs754412168 0.00002
NM_000264.5(PTCH1):c.388G>A (p.Val130Met) rs746339472 0.00002
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr) rs368528885 0.00002
NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp) rs773043616 0.00002
NM_000264.5(PTCH1):c.3956G>A (p.Arg1319His) rs572658914 0.00002
NM_000264.5(PTCH1):c.3965C>G (p.Ala1322Gly) rs1054532927 0.00002
NM_000264.5(PTCH1):c.3987G>A (p.Gly1329=) rs539319573 0.00002
NM_000264.5(PTCH1):c.3996C>T (p.Gly1332=) rs1343640252 0.00002
NM_000264.5(PTCH1):c.4026C>T (p.Arg1342=) rs576944494 0.00002
NM_000264.5(PTCH1):c.4030G>T (p.Ala1344Ser) rs765017975 0.00002
NM_000264.5(PTCH1):c.4034G>A (p.Arg1345His) rs766315655 0.00002
NM_000264.5(PTCH1):c.4081G>A (p.Val1361Met) rs753535745 0.00002
NM_000264.5(PTCH1):c.4085C>T (p.Pro1362Leu) rs777731495 0.00002
NM_000264.5(PTCH1):c.4129G>A (p.Val1377Met) rs745337014 0.00002
NM_000264.5(PTCH1):c.4148C>T (p.Pro1383Leu) rs571030658 0.00002
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu) rs146447673 0.00002
NM_000264.5(PTCH1):c.4172G>A (p.Arg1391Gln) rs773676486 0.00002
NM_000264.5(PTCH1):c.4176C>T (p.Asn1392=) rs770479209 0.00002
NM_000264.5(PTCH1):c.4210A>G (p.Thr1404Ala) rs201873008 0.00002
NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu) rs766849993 0.00002
NM_000264.5(PTCH1):c.4274C>T (p.Ser1425Leu) rs587778630 0.00002
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly) rs150696398 0.00002
NM_000264.5(PTCH1):c.4322C>T (p.Pro1441Leu) rs775192032 0.00002
NM_000264.5(PTCH1):c.521C>T (p.Ala174Val) rs772368023 0.00002
NM_000264.5(PTCH1):c.584+13G>A rs529799940 0.00002
NM_000264.5(PTCH1):c.61A>C (p.Ile21Leu) rs756724967 0.00002
NM_000264.5(PTCH1):c.654+4T>C rs758839801 0.00002
NM_000264.5(PTCH1):c.655-5G>T rs776683312 0.00002
NM_000264.5(PTCH1):c.658A>G (p.Ile220Val) rs768776930 0.00002
NM_000264.5(PTCH1):c.67G>A (p.Ala23Thr) rs863224654 0.00002
NM_000264.5(PTCH1):c.68C>T (p.Ala23Val) rs761204245 0.00002
NM_000264.5(PTCH1):c.724C>G (p.Gln242Glu) rs376353501 0.00002
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn) rs767601899 0.00002
NM_000264.5(PTCH1):c.924C>A (p.Ala308=) rs765750044 0.00002
NM_000264.5(PTCH1):c.946-13del rs777246500 0.00002
NM_000264.5(PTCH1):c.955A>G (p.Met319Val) rs1438545679 0.00002
NM_003738.5(PTCH2):c.1039C>T (p.Gln347Ter) rs202104574 0.00002
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter) rs757205202 0.00002
NM_003738.5(PTCH2):c.1215+10G>A rs765764028 0.00002
NM_003738.5(PTCH2):c.1215+18C>T rs375884824 0.00002
NM_003738.5(PTCH2):c.1238T>C (p.Met413Thr) rs779283615 0.00002
NM_003738.5(PTCH2):c.1244G>A (p.Arg415Gln) rs764488358 0.00002
NM_003738.5(PTCH2):c.1273G>A (p.Val425Met) rs776537011 0.00002
NM_003738.5(PTCH2):c.1380C>T (p.Pro460=) rs752485443 0.00002
NM_003738.5(PTCH2):c.1458T>C (p.Pro486=) rs753309310 0.00002
NM_003738.5(PTCH2):c.1476C>A (p.Gly492=) rs569864866 0.00002
NM_003738.5(PTCH2):c.1489C>T (p.Arg497Cys) rs200815526 0.00002
NM_003738.5(PTCH2):c.1492A>G (p.Thr498Ala) rs777213605 0.00002
NM_003738.5(PTCH2):c.1555G>A (p.Val519Ile) rs113543298 0.00002
NM_003738.5(PTCH2):c.1624G>A (p.Val542Met) rs1366049289 0.00002
NM_003738.5(PTCH2):c.1690G>A (p.Val564Met) rs35956045 0.00002
NM_003738.5(PTCH2):c.1726G>T (p.Val576Leu) rs867905557 0.00002
NM_003738.5(PTCH2):c.1783C>T (p.His595Tyr) rs199563590 0.00002
NM_003738.5(PTCH2):c.1979C>A (p.Ser660Tyr) rs376282577 0.00002
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val) rs1030456781 0.00002
NM_003738.5(PTCH2):c.2014G>A (p.Ala672Thr) rs145383991 0.00002
NM_003738.5(PTCH2):c.2033C>T (p.Pro678Leu) rs752642110 0.00002
NM_003738.5(PTCH2):c.203C>A (p.Ala68Asp) rs376362870 0.00002
NM_003738.5(PTCH2):c.2070G>C (p.Leu690=) rs1225161469 0.00002
NM_003738.5(PTCH2):c.2211C>T (p.Tyr737=) rs543080218 0.00002
NM_003738.5(PTCH2):c.2303C>T (p.Ala768Val) rs761442845 0.00002
NM_003738.5(PTCH2):c.233T>C (p.Ile78Thr) rs749275900 0.00002
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys) rs781204167 0.00002
NM_003738.5(PTCH2):c.2662G>A (p.Asp888Asn) rs745445438 0.00002
NM_003738.5(PTCH2):c.2695+20C>T rs745409083 0.00002
NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln) rs751579508 0.00002
NM_003738.5(PTCH2):c.275G>A (p.Arg92Gln) rs778736481 0.00002
NM_003738.5(PTCH2):c.277G>A (p.Val93Met) rs145784624 0.00002
NM_003738.5(PTCH2):c.2829C>T (p.His943=) rs1012780887 0.00002
NM_003738.5(PTCH2):c.285G>A (p.Gln95=) rs765572583 0.00002
NM_003738.5(PTCH2):c.286G>A (p.Glu96Lys) rs773172626 0.00002
NM_003738.5(PTCH2):c.2932G>A (p.Val978Ile) rs201618166 0.00002
NM_003738.5(PTCH2):c.3076G>A (p.Val1026Ile) rs758023126 0.00002
NM_003738.5(PTCH2):c.3148C>T (p.Arg1050Trp) rs765314961 0.00002
NM_003738.5(PTCH2):c.3257+14G>A rs772682205 0.00002
NM_003738.5(PTCH2):c.3257+1G>A rs760843273 0.00002
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) rs539161089 0.00002
NM_003738.5(PTCH2):c.3518A>G (p.Tyr1173Cys) rs771112499 0.00002
NM_003738.5(PTCH2):c.3548G>A (p.Trp1183Ter) rs56024410 0.00002
NM_003738.5(PTCH2):c.3590G>A (p.Gly1197Glu) rs909583917 0.00002
NM_003738.5(PTCH2):c.360C>T (p.Arg120=) rs753753033 0.00002
NM_003738.5(PTCH2):c.467T>G (p.Leu156Trp) rs757373889 0.00002
NM_003738.5(PTCH2):c.526-2A>G rs761307519 0.00002
NM_003738.5(PTCH2):c.545C>T (p.Pro182Leu) rs773912063 0.00002
NM_003738.5(PTCH2):c.567C>T (p.Leu189=) rs781010476 0.00002
NM_003738.5(PTCH2):c.618C>A (p.Pro206=) rs769410634 0.00002
NM_003738.5(PTCH2):c.70C>G (p.Gln24Glu) rs1038343665 0.00002
NM_003738.5(PTCH2):c.738C>T (p.Ala246=) rs58079936 0.00002
NM_003738.5(PTCH2):c.741C>T (p.Tyr247=) rs771872936 0.00002
NM_003738.5(PTCH2):c.811C>T (p.Gln271Ter) rs1179743544 0.00002
NM_003738.5(PTCH2):c.901G>A (p.Gly301Ser) rs757505677 0.00002
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 0.00002
NM_000264.5(PTCH1):c.*1556T>G rs572321616 0.00001
NM_000264.5(PTCH1):c.*1904T>C rs992648722 0.00001
NM_000264.5(PTCH1):c.*2001C>T rs531230280 0.00001
NM_000264.5(PTCH1):c.*2096G>A rs1331556943 0.00001
NM_000264.5(PTCH1):c.*3080G>T rs1006981555 0.00001
NM_000264.5(PTCH1):c.*3209T>C rs757611119 0.00001
NM_000264.5(PTCH1):c.1001A>G (p.Tyr334Cys) rs1841406856 0.00001
NM_000264.5(PTCH1):c.1020G>A (p.Glu340=) rs748171767 0.00001
NM_000264.5(PTCH1):c.1024A>C (p.Ile342Leu) rs1245184042 0.00001
NM_000264.5(PTCH1):c.1025T>C (p.Ile342Thr) rs1841403085 0.00001
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala) rs962982192 0.00001
NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg) rs1476325987 0.00001
NM_000264.5(PTCH1):c.1067+15G>A rs773933111 0.00001
NM_000264.5(PTCH1):c.1068-8T>C rs1194212093 0.00001
NM_000264.5(PTCH1):c.1068-9G>A rs863224344 0.00001
NM_000264.5(PTCH1):c.1068C>T (p.Ser356=) rs1051875027 0.00001
NM_000264.5(PTCH1):c.106A>G (p.Thr36Ala) rs1843898216 0.00001
NM_000264.5(PTCH1):c.1083G>A (p.Gln361=) rs1554699269 0.00001
NM_000264.5(PTCH1):c.1086C>T (p.Thr362=) rs777969745 0.00001
NM_000264.5(PTCH1):c.1099A>G (p.Met367Val) rs753152792 0.00001
NM_000264.5(PTCH1):c.1104T>C (p.Thr368=) rs1436332323 0.00001
NM_000264.5(PTCH1):c.1109A>G (p.Lys370Arg) rs768024586 0.00001
NM_000264.5(PTCH1):c.110G>A (p.Gly37Glu) rs748780206 0.00001
NM_000264.5(PTCH1):c.1110G>A (p.Lys370=) rs758977865 0.00001
NM_000264.5(PTCH1):c.1116G>T (p.Met372Ile) rs1841328115 0.00001
NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu) rs863224648 0.00001
NM_000264.5(PTCH1):c.112G>C (p.Gly38Arg) rs45574039 0.00001
NM_000264.5(PTCH1):c.1137C>T (p.Tyr379=) rs587780690 0.00001
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys) rs772903899 0.00001
NM_000264.5(PTCH1):c.1146C>T (p.Val382=) rs761718160 0.00001
NM_000264.5(PTCH1):c.1176G>A (p.Ala392=) rs878853844 0.00001
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091 0.00001
NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val) rs375098989 0.00001
NM_000264.5(PTCH1):c.1200G>T (p.Gln400His) rs1277111019 0.00001
NM_000264.5(PTCH1):c.1206A>G (p.Thr402=) rs1234871751 0.00001
NM_000264.5(PTCH1):c.1215+10C>T rs1444052168 0.00001
NM_000264.5(PTCH1):c.1216G>A (p.Val406Met) rs756949381 0.00001
NM_000264.5(PTCH1):c.1218G>A (p.Val406=) rs753586235 0.00001
NM_000264.5(PTCH1):c.1233C>T (p.Val411=) rs752518133 0.00001
NM_000264.5(PTCH1):c.1238A>G (p.Gln413Arg) rs975634341 0.00001
NM_000264.5(PTCH1):c.1246A>G (p.Thr416Ala) rs952195482 0.00001
NM_000264.5(PTCH1):c.1248T>G (p.Thr416=) rs863224345 0.00001
NM_000264.5(PTCH1):c.1262C>G (p.Ser421Cys) rs1285775586 0.00001
NM_000264.5(PTCH1):c.1274C>T (p.Thr425Met) rs768956985 0.00001
NM_000264.5(PTCH1):c.1277C>T (p.Thr426Ile) rs755787454 0.00001
NM_000264.5(PTCH1):c.127G>A (p.Ala43Thr) rs766536174 0.00001
NM_000264.5(PTCH1):c.1284C>T (p.Asp428=) rs1164371538 0.00001
NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr) rs778455544 0.00001
NM_000264.5(PTCH1):c.1317C>T (p.Val439=) rs755904085 0.00001
NM_000264.5(PTCH1):c.1318A>G (p.Ile440Val) rs752530755 0.00001
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His) rs767273237 0.00001
NM_000264.5(PTCH1):c.1335C>A (p.Gly445=) rs537660949 0.00001
NM_000264.5(PTCH1):c.1347+16A>G rs779587353 0.00001
NM_000264.5(PTCH1):c.1347+17T>C rs373179629 0.00001
NM_000264.5(PTCH1):c.1347+19C>T rs748811098 0.00001
NM_000264.5(PTCH1):c.1347+5C>T rs567257548 0.00001
NM_000264.5(PTCH1):c.1347+9C>T rs775905392 0.00001
NM_000264.5(PTCH1):c.1353C>G (p.Ala451=) rs754741810 0.00001
NM_000264.5(PTCH1):c.1353C>T (p.Ala451=) rs754741810 0.00001
NM_000264.5(PTCH1):c.1391A>G (p.Lys464Arg) rs756171491 0.00001
NM_000264.5(PTCH1):c.1407G>A (p.Val469=) rs1378167817 0.00001
NM_000264.5(PTCH1):c.1413G>A (p.Leu471=) rs1588600742 0.00001
NM_000264.5(PTCH1):c.1419C>T (p.Gly473=) rs774841100 0.00001
NM_000264.5(PTCH1):c.141G>C (p.Arg47=) rs587780693 0.00001
NM_000264.5(PTCH1):c.1431T>C (p.Val477=) rs147162848 0.00001
NM_000264.5(PTCH1):c.144C>T (p.Asp48=) rs1402917382 0.00001
NM_000264.5(PTCH1):c.1461G>A (p.Leu487=) rs1398912905 0.00001
NM_000264.5(PTCH1):c.1467A>G (p.Ser489=) rs747623182 0.00001
NM_000264.5(PTCH1):c.1489G>A (p.Ala497Thr) rs1398130707 0.00001
NM_000264.5(PTCH1):c.148C>T (p.Leu50=) rs748950681 0.00001
NM_000264.5(PTCH1):c.14G>C (p.Gly5Ala) rs864622762 0.00001
NM_000264.5(PTCH1):c.1503+19A>T rs201193230 0.00001
NM_000264.5(PTCH1):c.1503+6A>G rs1841148776 0.00001
NM_000264.5(PTCH1):c.1503+9G>A rs1188833495 0.00001
NM_000264.5(PTCH1):c.1504-4del rs1182409968 0.00001
NM_000264.5(PTCH1):c.150G>T (p.Leu50=) rs1172557603 0.00001
NM_000264.5(PTCH1):c.1519G>A (p.Ala507Thr) rs745669155 0.00001
NM_000264.5(PTCH1):c.153C>T (p.His51=) rs1587700385 0.00001
NM_000264.5(PTCH1):c.1552C>T (p.Leu518=) rs1163742413 0.00001
NM_000264.5(PTCH1):c.1557C>T (p.Ala519=) rs749296474 0.00001
NM_000264.5(PTCH1):c.1560C>T (p.His520=) rs952270018 0.00001
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu) rs372546614 0.00001
NM_000264.5(PTCH1):c.1603-16G>T rs1269440132 0.00001
NM_000264.5(PTCH1):c.1603-9T>A rs1471375018 0.00001
NM_000264.5(PTCH1):c.1625A>G (p.Lys542Arg) rs758673714 0.00001
NM_000264.5(PTCH1):c.1628G>A (p.Arg543His) rs150284288 0.00001
NM_000264.5(PTCH1):c.1638C>T (p.Ala546=) rs756682973 0.00001
NM_000264.5(PTCH1):c.1642G>A (p.Val548Met) rs575035810 0.00001
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val) rs759078774 0.00001
NM_000264.5(PTCH1):c.164A>T (p.Tyr55Phe) rs1205081001 0.00001
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=) rs766039170 0.00001
NM_000264.5(PTCH1):c.1669A>G (p.Thr557Ala) rs772312984 0.00001
NM_000264.5(PTCH1):c.166T>G (p.Cys56Gly) rs1340609158 0.00001
NM_000264.5(PTCH1):c.1674C>T (p.Ala558=) rs1227537345 0.00001
NM_000264.5(PTCH1):c.1704C>T (p.Pro568=) rs912977281 0.00001
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln) rs377566861 0.00001
NM_000264.5(PTCH1):c.1728+15A>G rs771991404 0.00001
NM_000264.5(PTCH1):c.1728+7T>C rs776735470 0.00001
NM_000264.5(PTCH1):c.1729-7C>T rs188325835 0.00001
NM_000264.5(PTCH1):c.1733C>T (p.Ala578Val) rs960630296 0.00001
NM_000264.5(PTCH1):c.1735G>A (p.Val579Ile) rs751708515 0.00001
NM_000264.5(PTCH1):c.1762G>A (p.Val588Ile) rs1472804824 0.00001
NM_000264.5(PTCH1):c.1804C>A (p.Arg602=) rs863224650 0.00001
NM_000264.5(PTCH1):c.1816A>C (p.Arg606=) rs1389910090 0.00001
NM_000264.5(PTCH1):c.1817G>A (p.Arg606Lys) rs748991295 0.00001
NM_000264.5(PTCH1):c.1829T>C (p.Ile610Thr) rs1234183663 0.00001
NM_000264.5(PTCH1):c.182C>G (p.Ala61Gly) rs1296707371 0.00001
NM_000264.5(PTCH1):c.1835G>T (p.Cys612Phe) rs777587539 0.00001
NM_000264.5(PTCH1):c.1837T>C (p.Cys613Arg) rs948568790 0.00001
NM_000264.5(PTCH1):c.1845A>G (p.Thr615=) rs755882246 0.00001
NM_000264.5(PTCH1):c.1847+20T>A rs754970528 0.00001
NM_000264.5(PTCH1):c.1848-12C>T rs1235985632 0.00001
NM_000264.5(PTCH1):c.1848-13C>T rs755868590 0.00001
NM_000264.5(PTCH1):c.1848-19_1848-18del rs779136053 0.00001
NM_000264.5(PTCH1):c.1848-9T>G rs1840326238 0.00001
NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu) rs765258547 0.00001
NM_000264.5(PTCH1):c.1892C>T (p.Thr631Ile) rs727504112 0.00001
NM_000264.5(PTCH1):c.1893C>T (p.Thr631=) rs757344587 0.00001
NM_000264.5(PTCH1):c.1910C>T (p.Thr637Ile) rs369090032 0.00001
NM_000264.5(PTCH1):c.1917C>T (p.Tyr639=) rs770506138 0.00001
NM_000264.5(PTCH1):c.1945A>G (p.Ser649Gly) rs375049109 0.00001
NM_000264.5(PTCH1):c.1954C>T (p.His652Tyr) rs1035631674 0.00001
NM_000264.5(PTCH1):c.1955A>G (p.His652Arg) rs1420640611 0.00001
NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met) rs746898855 0.00001
NM_000264.5(PTCH1):c.1973T>C (p.Met658Thr) rs1588575145 0.00001
NM_000264.5(PTCH1):c.1975C>G (p.Gln659Glu) rs1268572514 0.00001
NM_000264.5(PTCH1):c.1981A>G (p.Thr661Ala) rs753850577 0.00001
NM_000264.5(PTCH1):c.1988A>G (p.Gln663Arg) rs1840305709 0.00001
NM_000264.5(PTCH1):c.198C>G (p.Ser66=) rs1355794957 0.00001
NM_000264.5(PTCH1):c.1992C>A (p.Leu664=) rs1466845678 0.00001
NM_000264.5(PTCH1):c.1993C>T (p.Arg665Cys) rs767947110 0.00001
NM_000264.5(PTCH1):c.1997C>T (p.Thr666Met) rs752043221 0.00001
NM_000264.5(PTCH1):c.2005G>A (p.Asp669Asn) rs772574714 0.00001
NM_000264.5(PTCH1):c.201+17C>A rs750650083 0.00001
NM_000264.5(PTCH1):c.2016G>A (p.Thr672=) rs776286129 0.00001
NM_000264.5(PTCH1):c.2019C>T (p.His673=) rs587780695 0.00001
NM_000264.5(PTCH1):c.202-19C>T rs886038275 0.00001
NM_000264.5(PTCH1):c.202-8G>A rs750693438 0.00001
NM_000264.5(PTCH1):c.2020G>A (p.Val674Met) rs1060502291 0.00001
NM_000264.5(PTCH1):c.2022G>A (p.Val674=) rs368564259 0.00001
NM_000264.5(PTCH1):c.2022G>T (p.Val674=) rs368564259 0.00001
NM_000264.5(PTCH1):c.2034C>T (p.Thr678=) rs779883480 0.00001
NM_000264.5(PTCH1):c.2035G>A (p.Ala679Thr) rs771882746 0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000264.5(PTCH1):c.2045G>A (p.Arg682His) rs1366288601 0.00001
NM_000264.5(PTCH1):c.2063A>G (p.Gln688Arg) rs751955563 0.00001
NM_000264.5(PTCH1):c.2073C>T (p.Thr691=) rs371643436 0.00001
NM_000264.5(PTCH1):c.2085C>T (p.Asp695=) rs1452372504 0.00001
NM_000264.5(PTCH1):c.2086A>G (p.Thr696Ala) rs1588574496 0.00001
NM_000264.5(PTCH1):c.2096G>T (p.Cys699Phe) rs547829353 0.00001
NM_000264.5(PTCH1):c.2117G>C (p.Ser706Thr) rs140497736 0.00001
NM_000264.5(PTCH1):c.2118C>T (p.Ser706=) rs943011476 0.00001
NM_000264.5(PTCH1):c.2123C>T (p.Thr708Ile) rs1060502290 0.00001
NM_000264.5(PTCH1):c.2129A>G (p.Asp710Gly) rs1402724349 0.00001
NM_000264.5(PTCH1):c.212C>T (p.Thr71Ile) rs529720410 0.00001
NM_000264.5(PTCH1):c.2130C>A (p.Asp710Glu) rs774362306 0.00001
NM_000264.5(PTCH1):c.213T>C (p.Thr71=) rs1457697349 0.00001
NM_000264.5(PTCH1):c.2141A>G (p.Gln714Arg) rs1051496812 0.00001
NM_000264.5(PTCH1):c.2149G>A (p.Asp717Asn) rs1311707136 0.00001
NM_000264.5(PTCH1):c.216C>T (p.Gly72=) rs1383963652 0.00001
NM_000264.5(PTCH1):c.2172G>C (p.Glu724Asp) rs747274181 0.00001
NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg) rs963297092 0.00001
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser) rs758811078 0.00001
NM_000264.5(PTCH1):c.2179T>C (p.Cys727Arg) rs779167673 0.00001
NM_000264.5(PTCH1):c.2193A>T (p.Thr731=) rs760285524 0.00001
NM_000264.5(PTCH1):c.219G>A (p.Arg73=) rs944623019 0.00001
NM_000264.5(PTCH1):c.2219A>G (p.Tyr740Cys) rs1156974460 0.00001
NM_000264.5(PTCH1):c.2235G>A (p.Leu745=) rs749283740 0.00001
NM_000264.5(PTCH1):c.2250+15C>T rs768887056 0.00001
NM_000264.5(PTCH1):c.2250+17T>C rs367972605 0.00001
NM_000264.5(PTCH1):c.226C>T (p.Pro76Ser) rs997156828 0.00001
NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117 0.00001
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe) rs544963328 0.00001
NM_000264.5(PTCH1):c.228G>A (p.Pro76=) rs140542305 0.00001
NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile) rs755391704 0.00001
NM_000264.5(PTCH1):c.2309G>A (p.Arg770Gln) rs762942660 0.00001
NM_000264.5(PTCH1):c.2313G>A (p.Val771=) rs773304123 0.00001
NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu) rs923429610 0.00001
NM_000264.5(PTCH1):c.2334G>A (p.Thr778=) rs1369922802 0.00001
NM_000264.5(PTCH1):c.2343A>G (p.Val781=) rs746117249 0.00001
NM_000264.5(PTCH1):c.2361A>C (p.Glu787Asp) rs1159846014 0.00001
NM_000264.5(PTCH1):c.2364T>C (p.Tyr788=) rs1362991131 0.00001
NM_000264.5(PTCH1):c.2367C>T (p.Asp789=) rs908085179 0.00001
NM_000264.5(PTCH1):c.2370T>C (p.Phe790=) rs1060502300 0.00001
NM_000264.5(PTCH1):c.2379A>G (p.Ala793=) rs140673214 0.00001
NM_000264.5(PTCH1):c.2391C>T (p.Tyr797=) rs778260156 0.00001
NM_000264.5(PTCH1):c.2429C>T (p.Ala810Val) rs1228732568 0.00001
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) rs754623561 0.00001
NM_000264.5(PTCH1):c.2443A>G (p.Ile815Val) rs375257965 0.00001
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) rs766227557 0.00001
NM_000264.5(PTCH1):c.2461G>A (p.Asp821Asn) rs762855028 0.00001
NM_000264.5(PTCH1):c.2466A>G (p.Leu822=) rs750317626 0.00001
NM_000264.5(PTCH1):c.2467C>T (p.His823Tyr) rs370915763 0.00001
NM_000264.5(PTCH1):c.2469C>T (p.His823=) rs761707282 0.00001
NM_000264.5(PTCH1):c.2505A>G (p.Glu835=) rs749651063 0.00001
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg) rs587778628 0.00001
NM_000264.5(PTCH1):c.2560+10C>T rs779855404 0.00001
NM_000264.5(PTCH1):c.2560+20T>C rs750223422 0.00001
NM_000264.5(PTCH1):c.2561-20C>A rs1361292543 0.00001
NM_000264.5(PTCH1):c.2580C>T (p.Asp860=) rs1839517366 0.00001
NM_000264.5(PTCH1):c.2593A>G (p.Thr865Ala) rs1186399866 0.00001
NM_000264.5(PTCH1):c.2596G>A (p.Gly866Arg) rs765578315 0.00001
NM_000264.5(PTCH1):c.2615A>G (p.Asn872Ser) rs769029578 0.00001
NM_000264.5(PTCH1):c.2622G>A (p.Lys874=) rs747560273 0.00001
NM_000264.5(PTCH1):c.2670C>T (p.Thr890=) rs770685875 0.00001
NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg) rs1427672162 0.00001
NM_000264.5(PTCH1):c.2677C>T (p.Arg893Cys) rs753008328 0.00001
NM_000264.5(PTCH1):c.2679C>T (p.Arg893=) rs752658093 0.00001
NM_000264.5(PTCH1):c.2685G>A (p.Lys895=) rs1431878972 0.00001
NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val) rs765371196 0.00001
NM_000264.5(PTCH1):c.2699G>A (p.Ser900Asn) rs762152128 0.00001
NM_000264.5(PTCH1):c.2703+13C>T rs1431171944 0.00001
NM_000264.5(PTCH1):c.2704-13C>T rs1447832961 0.00001
NM_000264.5(PTCH1):c.2704-3T>C rs1208489068 0.00001
NM_000264.5(PTCH1):c.2704-4G>A rs864622248 0.00001
NM_000264.5(PTCH1):c.2704-5T>C rs1023491715 0.00001
NM_000264.5(PTCH1):c.2717G>A (p.Arg906His) rs764310195 0.00001
NM_000264.5(PTCH1):c.2737A>G (p.Ile913Val) rs147643145 0.00001
NM_000264.5(PTCH1):c.2739C>A (p.Ile913=) rs1305314328 0.00001
NM_000264.5(PTCH1):c.2740A>G (p.Ile914Val) rs1441750517 0.00001
NM_000264.5(PTCH1):c.2761A>G (p.Ile921Val) rs760174192 0.00001
NM_000264.5(PTCH1):c.2767C>T (p.Leu923=) rs1554691697 0.00001
NM_000264.5(PTCH1):c.279C>T (p.Tyr93=) rs142340833 0.00001
NM_000264.5(PTCH1):c.2820C>T (p.Asn940=) rs778138969 0.00001
NM_000264.5(PTCH1):c.2824C>T (p.Arg942Trp) rs756465236 0.00001
NM_000264.5(PTCH1):c.2839G>C (p.Glu947Gln) rs768039033 0.00001
NM_000264.5(PTCH1):c.283C>G (p.Gln95Glu) rs1587693508 0.00001
NM_000264.5(PTCH1):c.2851G>A (p.Asp951Asn) rs1588544328 0.00001
NM_000264.5(PTCH1):c.2852A>G (p.Asp951Gly) rs752126122 0.00001
NM_000264.5(PTCH1):c.285A>G (p.Gln95=) rs140051386 0.00001
NM_000264.5(PTCH1):c.2860G>A (p.Asp954Asn) rs772662871 0.00001
NM_000264.5(PTCH1):c.2887+17C>T rs771970960 0.00001
NM_000264.5(PTCH1):c.2887+18G>A rs749377356 0.00001
NM_000264.5(PTCH1):c.2887+9C>T rs746863062 0.00001
NM_000264.5(PTCH1):c.2888-6G>A rs775208484 0.00001
NM_000264.5(PTCH1):c.2891C>T (p.Pro964Leu) rs377120922 0.00001
NM_000264.5(PTCH1):c.28C>G (p.Pro10Ala) rs1587701162 0.00001
NM_000264.5(PTCH1):c.2910G>A (p.Glu970=) rs147044276 0.00001
NM_000264.5(PTCH1):c.2929T>C (p.Tyr977His) rs587780700 0.00001
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser) rs758907408 0.00001
NM_000264.5(PTCH1):c.293G>A (p.Cys98Tyr) rs746435405 0.00001
NM_000264.5(PTCH1):c.2945G>A (p.Arg982Gln) rs145924695 0.00001
NM_000264.5(PTCH1):c.2954C>T (p.Ser985Leu) rs760297274 0.00001
NM_000264.5(PTCH1):c.2955A>C (p.Ser985=) rs1060504532 0.00001
NM_000264.5(PTCH1):c.2958C>T (p.Asp986=) rs752508525 0.00001
NM_000264.5(PTCH1):c.295G>T (p.Gly99Cys) rs1036074195 0.00001
NM_000264.5(PTCH1):c.2962G>T (p.Val988Leu) rs1257244317 0.00001
NM_000264.5(PTCH1):c.2965G>A (p.Glu989Lys) rs1472299295 0.00001
NM_000264.5(PTCH1):c.2995A>C (p.Ser999Arg) rs1181905241 0.00001
NM_000264.5(PTCH1):c.3008G>A (p.Ser1003Asn) rs769866360 0.00001
NM_000264.5(PTCH1):c.3032A>G (p.Asn1011Ser) rs780425276 0.00001
NM_000264.5(PTCH1):c.3033C>T (p.Asn1011=) rs772344953 0.00001
NM_000264.5(PTCH1):c.3034G>A (p.Gly1012Ser) rs187813269 0.00001
NM_000264.5(PTCH1):c.3041C>T (p.Pro1014Leu) rs1404012576 0.00001
NM_000264.5(PTCH1):c.3070C>G (p.Leu1024Val) rs759405378 0.00001
NM_000264.5(PTCH1):c.3074G>A (p.Arg1025His) rs370150142 0.00001
NM_000264.5(PTCH1):c.3088C>G (p.Leu1030Val) rs1040729718 0.00001
NM_000264.5(PTCH1):c.3090G>C (p.Leu1030=) rs764111126 0.00001
NM_000264.5(PTCH1):c.3099C>T (p.Ser1033=) rs1256956712 0.00001
NM_000264.5(PTCH1):c.3111C>T (p.Ala1037=) rs1009386754 0.00001
NM_000264.5(PTCH1):c.3117A>G (p.Thr1039=) rs775579178 0.00001
NM_000264.5(PTCH1):c.311T>C (p.Val104Ala) rs746275162 0.00001
NM_000264.5(PTCH1):c.3128G>T (p.Cys1043Phe) rs1345405015 0.00001
NM_000264.5(PTCH1):c.3129C>T (p.Cys1043=) rs746220311 0.00001
NM_000264.5(PTCH1):c.3132T>C (p.Ala1044=) rs1166490973 0.00001
NM_000264.5(PTCH1):c.3149C>T (p.Pro1050Leu) rs1420175816 0.00001
NM_000264.5(PTCH1):c.3156G>A (p.Thr1052=) rs549164233 0.00001
NM_000264.5(PTCH1):c.3168+16G>C rs754733018 0.00001
NM_000264.5(PTCH1):c.3169-5T>C rs367654039 0.00001
NM_000264.5(PTCH1):c.3180G>A (p.Leu1060=) rs757268536 0.00001
NM_000264.5(PTCH1):c.3188T>C (p.Met1063Thr) rs1260702127 0.00001
NM_000264.5(PTCH1):c.3211A>T (p.Met1071Leu) rs559317040 0.00001
NM_000264.5(PTCH1):c.3219C>T (p.Leu1073=) rs771814170 0.00001
NM_000264.5(PTCH1):c.3220A>G (p.Ile1074Val) rs745626835 0.00001
NM_000264.5(PTCH1):c.322A>G (p.Ile108Val) rs1338490449 0.00001
NM_000264.5(PTCH1):c.3239C>T (p.Ala1080Val) rs781188522 0.00001
NM_000264.5(PTCH1):c.3261C>T (p.Ile1087=) rs768215021 0.00001
NM_000264.5(PTCH1):c.3262G>A (p.Ala1088Thr) rs150217389 0.00001
NM_000264.5(PTCH1):c.3264T>A (p.Ala1088=) rs1361137530 0.00001
NM_000264.5(PTCH1):c.3292G>A (p.Val1098Ile) rs748726158 0.00001
NM_000264.5(PTCH1):c.3293T>C (p.Val1098Ala) rs1291842090 0.00001
NM_000264.5(PTCH1):c.3295C>G (p.His1099Asp) rs1426410745 0.00001
NM_000264.5(PTCH1):c.3297C>T (p.His1099=) rs1426862267 0.00001
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala) rs1060502284 0.00001
NM_000264.5(PTCH1):c.3313C>T (p.Leu1105=) rs773043594 0.00001
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met) rs769691754 0.00001
NM_000264.5(PTCH1):c.3322A>G (p.Ile1108Val) rs866037881 0.00001
NM_000264.5(PTCH1):c.3325G>A (p.Gly1109Ser) rs1344231723 0.00001
NM_000264.5(PTCH1):c.3327C>T (p.Gly1109=) rs779950790 0.00001
NM_000264.5(PTCH1):c.3331A>G (p.Lys1111Glu) rs1838665681 0.00001
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys) rs758520331 0.00001
NM_000264.5(PTCH1):c.3347T>A (p.Val1116Glu) rs863224653 0.00001
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=) rs756638660 0.00001
NM_000264.5(PTCH1):c.337G>T (p.Ala113Ser) rs1843653911 0.00001
NM_000264.5(PTCH1):c.3384T>C (p.Asp1128=) rs759078294 0.00001
NM_000264.5(PTCH1):c.3388G>A (p.Ala1130Thr) rs766037357 0.00001
NM_000264.5(PTCH1):c.342G>A (p.Val114=) rs766365142 0.00001
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val) rs369265532 0.00001
NM_000264.5(PTCH1):c.3443T>C (p.Ile1148Thr) rs1838650766 0.00001
NM_000264.5(PTCH1):c.3449+10C>T rs371546179 0.00001
NM_000264.5(PTCH1):c.3449+7A>T rs374907800 0.00001
NM_000264.5(PTCH1):c.3450-20G>A rs781454030 0.00001
NM_000264.5(PTCH1):c.3452A>G (p.Tyr1151Cys) rs1838317135 0.00001
NM_000264.5(PTCH1):c.3459T>C (p.Phe1153=) rs752031732 0.00001
NM_000264.5(PTCH1):c.3472A>C (p.Ile1158Leu) rs368636457 0.00001
NM_000264.5(PTCH1):c.3477C>T (p.Leu1159=) rs1838313389 0.00001
NM_000264.5(PTCH1):c.3479C>G (p.Thr1160Ser) rs147633236 0.00001
NM_000264.5(PTCH1):c.3490G>A (p.Val1164Ile) rs371346118 0.00001
NM_000264.5(PTCH1):c.3529T>G (p.Phe1177Val) rs772200521 0.00001
NM_000264.5(PTCH1):c.3564C>T (p.Asn1188=) rs864622621 0.00001
NM_000264.5(PTCH1):c.3565G>A (p.Gly1189Ser) rs767535853 0.00001
NM_000264.5(PTCH1):c.3573C>T (p.Asn1191=) rs773389781 0.00001
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys) rs571420165 0.00001
NM_000264.5(PTCH1):c.357G>C (p.Ala119=) rs377575915 0.00001
NM_000264.5(PTCH1):c.3592C>T (p.Pro1198Ser) rs1280830531 0.00001
NM_000264.5(PTCH1):c.3605C>G (p.Pro1202Arg) rs374097441 0.00001
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg) rs1564008885 0.00001
NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr) rs945517672 0.00001
NM_000264.5(PTCH1):c.3636C>T (p.Gly1212=) rs751560737 0.00001
NM_000264.5(PTCH1):c.3645C>T (p.His1215=) rs760927638 0.00001
NM_000264.5(PTCH1):c.3655G>C (p.Asp1219His) rs774833489 0.00001
NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn) rs747181820 0.00001
NM_000264.5(PTCH1):c.3668C>T (p.Ser1223Leu) rs769287098 0.00001
NM_000264.5(PTCH1):c.3705C>T (p.Ser1235=) rs1051927200 0.00001
NM_000264.5(PTCH1):c.3706G>A (p.Glu1236Lys) rs779844193 0.00001
NM_000264.5(PTCH1):c.3715C>T (p.Arg1239Trp) rs758411912 0.00001
NM_000264.5(PTCH1):c.3723C>T (p.Tyr1241=) rs750745538 0.00001
NM_000264.5(PTCH1):c.3737G>A (p.Gly1246Asp) rs374011978 0.00001
NM_000264.5(PTCH1):c.3738C>T (p.Gly1246=) rs771308724 0.00001
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu) rs375857496 0.00001
NM_000264.5(PTCH1):c.3748C>T (p.Pro1250Ser) rs1060502265 0.00001
NM_000264.5(PTCH1):c.3756C>T (p.His1252=) rs768484663 0.00001
NM_000264.5(PTCH1):c.3759A>G (p.Gln1253=) rs1220180319 0.00001
NM_000264.5(PTCH1):c.3765C>T (p.Ile1255=) rs758229027 0.00001
NM_000264.5(PTCH1):c.3787G>A (p.Val1263Ile) rs752831580 0.00001
NM_000264.5(PTCH1):c.3804+18A>G rs1838202750 0.00001
NM_000264.5(PTCH1):c.3804+6T>G rs1298248967 0.00001
NM_000264.5(PTCH1):c.3804T>C (p.Thr1268=) rs951501624 0.00001
NM_000264.5(PTCH1):c.3805-19C>T rs375522977 0.00001
NM_000264.5(PTCH1):c.3805-20C>T rs1264140680 0.00001
NM_000264.5(PTCH1):c.3805-8C>G rs1056411006 0.00001
NM_000264.5(PTCH1):c.3827A>G (p.His1276Arg) rs1445693994 0.00001
NM_000264.5(PTCH1):c.3836C>T (p.Pro1279Leu) rs747128318 0.00001
NM_000264.5(PTCH1):c.3837C>T (p.Pro1279=) rs1263941339 0.00001
NM_000264.5(PTCH1):c.3841A>G (p.Asn1281Asp) rs1838051752 0.00001
NM_000264.5(PTCH1):c.3843C>T (p.Asn1281=) rs765729268 0.00001
NM_000264.5(PTCH1):c.384G>C (p.Leu128=) rs990879355 0.00001
NM_000264.5(PTCH1):c.3852G>A (p.Gln1284=) rs530952447 0.00001
NM_000264.5(PTCH1):c.3875C>T (p.Ser1292Phe) rs760216958 0.00001
NM_000264.5(PTCH1):c.3876C>T (p.Ser1292=) rs752197356 0.00001
NM_000264.5(PTCH1):c.3879G>A (p.Leu1293=) rs1838044861 0.00001
NM_000264.5(PTCH1):c.3885C>T (p.Pro1295=) rs267602323 0.00001
NM_000264.5(PTCH1):c.3886G>A (p.Gly1296Arg) rs372828014 0.00001
NM_000264.5(PTCH1):c.3899A>T (p.Gln1300Leu) rs769680080 0.00001
NM_000264.5(PTCH1):c.390G>A (p.Val130=) rs1203300469 0.00001
NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu) rs786204201 0.00001
NM_000264.5(PTCH1):c.3916C>A (p.Pro1306Thr) rs1169961504 0.00001
NM_000264.5(PTCH1):c.3920C>G (p.Pro1307Arg) rs181585555 0.00001
NM_000264.5(PTCH1):c.3924A>G (p.Arg1308=) rs762725821 0.00001
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser) rs1057524645 0.00001
NM_000264.5(PTCH1):c.394+10C>T rs755119764 0.00001
NM_000264.5(PTCH1):c.394+13G>T rs1444907229 0.00001
NM_000264.5(PTCH1):c.394+15C>G rs771281691 0.00001
NM_000264.5(PTCH1):c.394+18G>A rs749589611 0.00001
NM_000264.5(PTCH1):c.394+6_394+17del rs774338309 0.00001
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser) rs574856671 0.00001
NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu) rs1400282737 0.00001
NM_000264.5(PTCH1):c.3943C>T (p.Pro1315Ser) rs746022197 0.00001
NM_000264.5(PTCH1):c.395-12C>T rs374019375 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000264.5(PTCH1):c.395-8T>A rs755013836 0.00001
NM_000264.5(PTCH1):c.395-9A>G rs781395697 0.00001
NM_000264.5(PTCH1):c.3951A>G (p.Arg1317=) rs1211632031 0.00001
NM_000264.5(PTCH1):c.3975T>A (p.Ile1325=) rs45504199 0.00001
NM_000264.5(PTCH1):c.3984A>C (p.Glu1328Asp) rs1394160194 0.00001
NM_000264.5(PTCH1):c.4014C>T (p.Arg1338=) rs1257662475 0.00001
NM_000264.5(PTCH1):c.4041C>T (p.His1347=) rs774524114 0.00001
NM_000264.5(PTCH1):c.4042A>G (p.Asn1348Asp) rs766576144 0.00001
NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser) rs371943557 0.00001
NM_000264.5(PTCH1):c.4046C>T (p.Pro1349Leu) rs773298544 0.00001
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln) rs978722722 0.00001
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=) rs748440992 0.00001
NM_000264.5(PTCH1):c.4055C>G (p.Pro1352Arg) rs1022984391 0.00001
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val) rs777096311 0.00001
NM_000264.5(PTCH1):c.4062C>T (p.Ser1354=) rs750183334 0.00001
NM_000264.5(PTCH1):c.4063A>G (p.Thr1355Ala) rs864622456 0.00001
NM_000264.5(PTCH1):c.4094G>A (p.Cys1365Tyr) rs1397510746 0.00001
NM_000264.5(PTCH1):c.4114A>G (p.Thr1372Ala) rs1837997051 0.00001
NM_000264.5(PTCH1):c.4115C>T (p.Thr1372Met) rs765348942 0.00001
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys) rs139535966 0.00001
NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr) rs111481152 0.00001
NM_000264.5(PTCH1):c.413G>A (p.Arg138His) rs763774051 0.00001
NM_000264.5(PTCH1):c.4146C>T (p.His1382=) rs1207158056 0.00001
NM_000264.5(PTCH1):c.4149G>A (p.Pro1383=) rs56230654 0.00001
NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=) rs761887390 0.00001
NM_000264.5(PTCH1):c.4160C>T (p.Pro1387Leu) rs552921967 0.00001
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg) rs587778631 0.00001
NM_000264.5(PTCH1):c.4167T>A (p.Pro1389=) rs531218594 0.00001
NM_000264.5(PTCH1):c.4170G>A (p.Gly1390=) rs201118928 0.00001
NM_000264.5(PTCH1):c.4178C>G (p.Pro1393Arg) rs1368334005 0.00001
NM_000264.5(PTCH1):c.4180C>T (p.Arg1394Ter) rs1297685477 0.00001
NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg) rs375626922 0.00001
NM_000264.5(PTCH1):c.4187G>A (p.Gly1396Glu) rs747923595 0.00001
NM_000264.5(PTCH1):c.4195C>T (p.Pro1399Ser) rs1275384199 0.00001
NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp) rs786204094 0.00001
NM_000264.5(PTCH1):c.41G>A (p.Gly14Asp) rs1564091998 0.00001
NM_000264.5(PTCH1):c.4237C>T (p.His1413Tyr) rs772886108 0.00001
NM_000264.5(PTCH1):c.4239C>T (p.His1413=) rs375040845 0.00001
NM_000264.5(PTCH1):c.4249C>A (p.His1417Asn) rs776235476 0.00001
NM_000264.5(PTCH1):c.4267A>C (p.Arg1423=) rs1588509691 0.00001
NM_000264.5(PTCH1):c.4288A>G (p.Ile1430Val) rs1043260017 0.00001
NM_000264.5(PTCH1):c.4289T>C (p.Ile1430Thr) rs556722778 0.00001
NM_000264.5(PTCH1):c.4291G>A (p.Glu1431Lys) rs766876016 0.00001
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met) rs587778632 0.00001
NM_000264.5(PTCH1):c.4308A>G (p.Glu1436=) rs1352453918 0.00001
NM_000264.5(PTCH1):c.430C>T (p.Arg144Cys) rs587780705 0.00001
NM_000264.5(PTCH1):c.4320G>T (p.Arg1440Ser) rs1837952286 0.00001
NM_000264.5(PTCH1):c.4334G>A (p.Ser1445Asn) rs770268061 0.00001
NM_000264.5(PTCH1):c.447A>G (p.Glu149=) rs948008040 0.00001
NM_000264.5(PTCH1):c.451G>T (p.Ala151Ser) rs751024812 0.00001
NM_000264.5(PTCH1):c.454A>G (p.Met152Val) rs766905791 0.00001
NM_000264.5(PTCH1):c.463C>T (p.Pro155Ser) rs369105527 0.00001
NM_000264.5(PTCH1):c.485C>G (p.Pro162Arg) rs770046324 0.00001
NM_000264.5(PTCH1):c.48C>T (p.Gly16=) rs587780706 0.00001
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp) rs587780707 0.00001
NM_000264.5(PTCH1):c.514A>G (p.Thr172Ala) rs1244945859 0.00001
NM_000264.5(PTCH1):c.522G>A (p.Ala174=) rs891032185 0.00001
NM_000264.5(PTCH1):c.526C>T (p.Leu176=) rs2066834 0.00001
NM_000264.5(PTCH1):c.528A>G (p.Leu176=) rs771039964 0.00001
NM_000264.5(PTCH1):c.534C>T (p.His178=) rs749224677 0.00001
NM_000264.5(PTCH1):c.542C>T (p.Ser181Leu) rs868350953 0.00001
NM_000264.5(PTCH1):c.545C>T (p.Ala182Val) rs567721919 0.00001
NM_000264.5(PTCH1):c.552G>T (p.Gln184His) rs369893129 0.00001
NM_000264.5(PTCH1):c.574A>G (p.Met192Val) rs763513784 0.00001
NM_000264.5(PTCH1):c.584+12C>T rs375797579 0.00001
NM_000264.5(PTCH1):c.584+15G>A rs368571192 0.00001
NM_000264.5(PTCH1):c.584+18C>T rs775769741 0.00001
NM_000264.5(PTCH1):c.584+6G>A rs1282207631 0.00001
NM_000264.5(PTCH1):c.584+9C>T rs750895460 0.00001
NM_000264.5(PTCH1):c.594A>G (p.Lys198=) rs1341335793 0.00001
NM_000264.5(PTCH1):c.608G>A (p.Cys203Tyr) rs1261920867 0.00001
NM_000264.5(PTCH1):c.637A>G (p.Thr213Ala) rs1588614533 0.00001
NM_000264.5(PTCH1):c.646A>G (p.Met216Val) rs587780709 0.00001
NM_000264.5(PTCH1):c.649G>A (p.Asp217Asn) rs780378700 0.00001
NM_000264.5(PTCH1):c.652C>G (p.Gln218Glu) rs1841591077 0.00001
NM_000264.5(PTCH1):c.655-17C>G rs1028803378 0.00001
NM_000264.5(PTCH1):c.655A>G (p.Ile219Val) rs1841580631 0.00001
NM_000264.5(PTCH1):c.671A>T (p.Tyr224Phe) rs747205016 0.00001
NM_000264.5(PTCH1):c.70C>T (p.Pro24Ser) rs1338078012 0.00001
NM_000264.5(PTCH1):c.717G>A (p.Ala239=) rs775723196 0.00001
NM_000264.5(PTCH1):c.728C>T (p.Ser243Phe) rs141265422 0.00001
NM_000264.5(PTCH1):c.746+7G>A rs369770500 0.00001
NM_000264.5(PTCH1):c.747-20T>C rs778453806 0.00001
NM_000264.5(PTCH1):c.747-8T>C rs780639292 0.00001
NM_000264.5(PTCH1):c.747-9C>A rs747672519 0.00001
NM_000264.5(PTCH1):c.752A>G (p.Lys251Arg) rs754650075 0.00001
NM_000264.5(PTCH1):c.764G>A (p.Arg255Gln) rs779870576 0.00001
NM_000264.5(PTCH1):c.777C>T (p.Phe259=) rs750313305 0.00001
NM_000264.5(PTCH1):c.778G>A (p.Asp260Asn) rs765174527 0.00001
NM_000264.5(PTCH1):c.77G>T (p.Arg26Leu) rs1181222222 0.00001
NM_000264.5(PTCH1):c.819T>C (p.Tyr273=) rs1060504534 0.00001
NM_000264.5(PTCH1):c.828C>T (p.Asp276=) rs763432270 0.00001
NM_000264.5(PTCH1):c.832T>G (p.Trp278Gly) rs1219459429 0.00001
NM_000264.5(PTCH1):c.840A>G (p.Glu280=) rs770426495 0.00001
NM_000264.5(PTCH1):c.847A>T (p.Asn283Tyr) rs1588610162 0.00001
NM_000264.5(PTCH1):c.878A>G (p.Asp293Gly) rs768095469 0.00001
NM_000264.5(PTCH1):c.881G>A (p.Arg294His) rs878853859 0.00001
NM_000264.5(PTCH1):c.893A>G (p.Asn298Ser) rs1456514392 0.00001
NM_000264.5(PTCH1):c.895C>T (p.Pro299Ser) rs745669231 0.00001
NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg) rs1487227339 0.00001
NM_000264.5(PTCH1):c.907G>C (p.Asp303His) rs1172719429 0.00001
NM_000264.5(PTCH1):c.90C>T (p.Gly30=) rs1266520658 0.00001
NM_000264.5(PTCH1):c.915C>T (p.Pro305=) rs137944857 0.00001
NM_000264.5(PTCH1):c.916G>A (p.Ala306Thr) rs547776340 0.00001
NM_000264.5(PTCH1):c.918C>T (p.Ala306=) rs1005939298 0.00001
NM_000264.5(PTCH1):c.920C>T (p.Thr307Ile) rs1255733467 0.00001
NM_000264.5(PTCH1):c.926C>T (p.Pro309Leu) rs762382517 0.00001
NM_000264.5(PTCH1):c.92G>A (p.Gly31Glu) rs1329331221 0.00001
NM_000264.5(PTCH1):c.944A>C (p.Lys315Thr) rs746517321 0.00001
NM_000264.5(PTCH1):c.945+10A>C rs771708898 0.00001
NM_000264.5(PTCH1):c.946-18G>T rs1447732065 0.00001
NM_000264.5(PTCH1):c.949C>G (p.Leu317Val) rs1380199153 0.00001
NM_000264.5(PTCH1):c.956T>C (p.Met319Thr) rs867609005 0.00001
NM_000264.5(PTCH1):c.95G>A (p.Arg32Lys) rs746923835 0.00001
NM_000264.5(PTCH1):c.95G>C (p.Arg32Thr) rs746923835 0.00001
NM_000264.5(PTCH1):c.969G>A (p.Leu323=) rs771618979 0.00001
NM_003738.5(PTCH2):c.1070G>A (p.Arg357Gln) rs746520151 0.00001
NM_003738.5(PTCH2):c.1093G>T (p.Glu365Ter) rs1344552083 0.00001
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys) rs768246990 0.00001
NM_003738.5(PTCH2):c.110G>A (p.Arg37His) rs889058469 0.00001
NM_003738.5(PTCH2):c.1161G>A (p.Leu387=) rs759092490 0.00001
NM_003738.5(PTCH2):c.1166C>T (p.Ala389Val) rs566147210 0.00001
NM_003738.5(PTCH2):c.1216-10C>G rs369940240 0.00001
NM_003738.5(PTCH2):c.1216C>A (p.Leu406Met) rs768659000 0.00001
NM_003738.5(PTCH2):c.1221C>A (p.Ala407=) rs530613777 0.00001
NM_003738.5(PTCH2):c.1240C>G (p.Leu414Val) rs936828240 0.00001
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs) rs781171287 0.00001
NM_003738.5(PTCH2):c.1311G>A (p.Val437=) rs749955039 0.00001
NM_003738.5(PTCH2):c.1341C>T (p.Leu447=) rs776284730 0.00001
NM_003738.5(PTCH2):c.1342G>A (p.Gly448Ser) rs764006611 0.00001
NM_003738.5(PTCH2):c.1371+4C>T rs201185084 0.00001
NM_003738.5(PTCH2):c.1372-15C>T rs763685949 0.00001
NM_003738.5(PTCH2):c.1372-9C>T rs1003390877 0.00001
NM_003738.5(PTCH2):c.1387G>C (p.Ala463Pro) rs767529534 0.00001
NM_003738.5(PTCH2):c.1399G>A (p.Gly467Ser) rs774556844 0.00001
NM_003738.5(PTCH2):c.1431C>T (p.Ala477=) rs182234912 0.00001
NM_003738.5(PTCH2):c.148G>A (p.Gly50Arg) rs1050285039 0.00001
NM_003738.5(PTCH2):c.1490G>A (p.Arg497His) rs747326124 0.00001
NM_003738.5(PTCH2):c.1491C>T (p.Arg497=) rs1218382325 0.00001
NM_003738.5(PTCH2):c.1493C>T (p.Thr498Met) rs755775675 0.00001
NM_003738.5(PTCH2):c.1494G>A (p.Thr498=) rs752335873 0.00001
NM_003738.5(PTCH2):c.1540C>T (p.Leu514Phe) rs1166767159 0.00001
NM_003738.5(PTCH2):c.1574G>A (p.Arg525Gln) rs780947486 0.00001
NM_003738.5(PTCH2):c.1583C>T (p.Ser528Phe) rs746773302 0.00001
NM_003738.5(PTCH2):c.1587A>C (p.Leu529=) rs779782928 0.00001
NM_003738.5(PTCH2):c.1588C>T (p.Gln530Ter) rs1267419292 0.00001
NM_003738.5(PTCH2):c.1611C>T (p.Cys537=) rs372959991 0.00001
NM_003738.5(PTCH2):c.1634T>C (p.Val545Ala) rs868360367 0.00001
NM_003738.5(PTCH2):c.1664G>A (p.Arg555Gln) rs751870013 0.00001
NM_003738.5(PTCH2):c.1667G>A (p.Arg556Gln) rs538894363 0.00001
NM_003738.5(PTCH2):c.1682G>A (p.Arg561His) rs375224102 0.00001
NM_003738.5(PTCH2):c.1709+19C>T rs1265027304 0.00001
NM_003738.5(PTCH2):c.1716C>T (p.Cys572=) rs1313592725 0.00001
NM_003738.5(PTCH2):c.1720G>T (p.Ala574Ser) rs779477101 0.00001
NM_003738.5(PTCH2):c.1760G>A (p.Gly587Glu) rs772982125 0.00001
NM_003738.5(PTCH2):c.1770A>C (p.Pro590=) rs1279014385 0.00001
NM_003738.5(PTCH2):c.1913C>G (p.Pro638Arg) rs753624626 0.00001
NM_003738.5(PTCH2):c.1991C>T (p.Ala664Val) rs1461435360 0.00001
NM_003738.5(PTCH2):c.2017C>T (p.Arg673Cys) rs151287275 0.00001
NM_003738.5(PTCH2):c.2035T>C (p.Leu679=) rs569892194 0.00001
NM_003738.5(PTCH2):c.2086C>T (p.Leu696Phe) rs765469465 0.00001
NM_003738.5(PTCH2):c.2106C>T (p.Tyr702=) rs146389042 0.00001
NM_003738.5(PTCH2):c.2156G>A (p.Arg719Gln) rs121434397 0.00001
NM_003738.5(PTCH2):c.2199C>T (p.Tyr733=) rs764374316 0.00001
NM_003738.5(PTCH2):c.2212G>A (p.Glu738Lys) rs772919434 0.00001
NM_003738.5(PTCH2):c.2219C>T (p.Ala740Val) rs768297911 0.00001
NM_003738.5(PTCH2):c.2247C>T (p.Tyr749=) rs779837932 0.00001
NM_003738.5(PTCH2):c.2260C>T (p.Arg754Cys) rs779024571 0.00001
NM_003738.5(PTCH2):c.2304G>A (p.Ala768=) rs756917724 0.00001
NM_003738.5(PTCH2):c.2319G>A (p.Pro773=) rs1346751141 0.00001
NM_003738.5(PTCH2):c.231T>C (p.Ile77=) rs770754446 0.00001
NM_003738.5(PTCH2):c.2356C>T (p.Arg786Cys) rs756422449 0.00001
NM_003738.5(PTCH2):c.2371+18G>A rs370584384 0.00001
NM_003738.5(PTCH2):c.2371+9C>T rs1261637894 0.00001
NM_003738.5(PTCH2):c.2380G>A (p.Ala794Thr) rs753274452 0.00001
NM_003738.5(PTCH2):c.2514+1G>T rs1270521718 0.00001
NM_003738.5(PTCH2):c.2519C>G (p.Thr840Ser) rs150339322 0.00001
NM_003738.5(PTCH2):c.2562G>A (p.Glu854=) rs1355382148 0.00001
NM_003738.5(PTCH2):c.2563C>T (p.Leu855Phe) rs770833248 0.00001
NM_003738.5(PTCH2):c.2584G>A (p.Val862Met) rs371160711 0.00001
NM_003738.5(PTCH2):c.2644C>T (p.Pro882Ser) rs746520920 0.00001
NM_003738.5(PTCH2):c.2670C>T (p.Tyr890=) rs151110219 0.00001
NM_003738.5(PTCH2):c.2697C>A (p.Ile899=) rs777596264 0.00001
NM_003738.5(PTCH2):c.2810C>T (p.Ala937Val) rs776549275 0.00001
NM_003738.5(PTCH2):c.2811C>T (p.Ala937=) rs375965470 0.00001
NM_003738.5(PTCH2):c.2812G>A (p.Gly938Ser) rs746898559 0.00001
NM_003738.5(PTCH2):c.2865A>G (p.Glu955=) rs895448868 0.00001
NM_003738.5(PTCH2):c.2923A>T (p.Thr975Ser) rs1166283414 0.00001
NM_003738.5(PTCH2):c.2933T>C (p.Val978Ala) rs756475622 0.00001
NM_003738.5(PTCH2):c.2940T>C (p.Ala980=) rs374872274 0.00001
NM_003738.5(PTCH2):c.2973C>T (p.Leu991=) rs1401932849 0.00001
NM_003738.5(PTCH2):c.2991G>A (p.Ala997=) rs756770955 0.00001
NM_003738.5(PTCH2):c.3054C>T (p.Pro1018=) rs773222322 0.00001
NM_003738.5(PTCH2):c.3087C>T (p.Gly1029=) rs753377256 0.00001
NM_003738.5(PTCH2):c.3114+8C>T rs765369976 0.00001
NM_003738.5(PTCH2):c.312G>T (p.Leu104=) rs746185871 0.00001
NM_003738.5(PTCH2):c.3233G>T (p.Gly1078Val) rs150218755 0.00001
NM_003738.5(PTCH2):c.3257+13C>T rs201767824 0.00001
NM_003738.5(PTCH2):c.3258-19C>A rs745648260 0.00001
NM_003738.5(PTCH2):c.3271G>A (p.Ala1091Thr) rs767618405 0.00001
NM_003738.5(PTCH2):c.3287C>T (p.Thr1096Met) rs1159570918 0.00001
NM_003738.5(PTCH2):c.3345C>T (p.Gly1115=) rs552908012 0.00001
NM_003738.5(PTCH2):c.3348G>A (p.Pro1116=) rs576830052 0.00001
NM_003738.5(PTCH2):c.3357+14C>T rs765650749 0.00001
NM_003738.5(PTCH2):c.3357+8C>T rs750855839 0.00001
NM_003738.5(PTCH2):c.3358-4A>T rs750625056 0.00001
NM_003738.5(PTCH2):c.3411G>A (p.Gln1137=) rs762625084 0.00001
NM_003738.5(PTCH2):c.3417C>T (p.Gly1139=) rs747942130 0.00001
NM_003738.5(PTCH2):c.3431G>A (p.Gly1144Glu) rs1234546689 0.00001
NM_003738.5(PTCH2):c.3453G>A (p.Gln1151=) rs917619041 0.00001
NM_003738.5(PTCH2):c.3473C>G (p.Thr1158Ser) rs545773315 0.00001
NM_003738.5(PTCH2):c.3500C>T (p.Pro1167Leu) rs777389212 0.00001
NM_003738.5(PTCH2):c.3506T>C (p.Leu1169Pro) rs779167991 0.00001
NM_003738.5(PTCH2):c.3506del (p.Leu1169fs) rs1049941528 0.00001
NM_003738.5(PTCH2):c.3566G>C (p.Ser1189Thr) rs900911841 0.00001
NM_003738.5(PTCH2):c.3606T>C (p.Thr1202=) rs139492585 0.00001
NM_003738.5(PTCH2):c.372G>A (p.Glu124=) rs1462647763 0.00001
NM_003738.5(PTCH2):c.453G>T (p.Gly151=) rs757012124 0.00001
NM_003738.5(PTCH2):c.455+8T>C rs753607924 0.00001
NM_003738.5(PTCH2):c.456-9C>T rs974138745 0.00001
NM_003738.5(PTCH2):c.48C>T (p.Pro16=) rs1241582640 0.00001
NM_003738.5(PTCH2):c.523C>T (p.Arg175Trp) rs777212373 0.00001
NM_003738.5(PTCH2):c.525+19A>C rs770589703 0.00001
NM_003738.5(PTCH2):c.52G>C (p.Ala18Pro) rs1186947999 0.00001
NM_003738.5(PTCH2):c.530T>C (p.Ile177Thr) rs1383422802 0.00001
NM_003738.5(PTCH2):c.546G>A (p.Pro182=) rs547735253 0.00001
NM_003738.5(PTCH2):c.550G>A (p.Val184Met) rs748846701 0.00001
NM_003738.5(PTCH2):c.571del (p.Cys191fs) rs1476622319 0.00001
NM_003738.5(PTCH2):c.73A>C (p.Ile25Leu) rs766919037 0.00001
NM_003738.5(PTCH2):c.763C>G (p.Pro255Ala) rs200618779 0.00001
NM_003738.5(PTCH2):c.7C>T (p.Arg3Ter) rs1060502263 0.00001
NM_003738.5(PTCH2):c.813+4G>C rs552470325 0.00001
NM_003738.5(PTCH2):c.821A>G (p.Asn274Ser) rs753314916 0.00001
NM_003738.5(PTCH2):c.831C>T (p.His277=) rs909568880 0.00001
NM_003738.5(PTCH2):c.838A>G (p.Ser280Gly) rs1429367527 0.00001
NM_003738.5(PTCH2):c.935+6G>A rs370065753 0.00001
NM_003738.5(PTCH2):c.953G>A (p.Ser318Asn) rs772366646 0.00001
NM_003738.5(PTCH2):c.987C>T (p.Tyr329=) rs1338577427 0.00001
NM_003738.5(PTCH2):c.997C>T (p.Arg333Trp) rs779863570 0.00001
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp) rs201326378 0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) rs778125780 0.00001
GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1
GRCh37/hg19 9q22.32(97579146-99280739)x1
GRCh37/hg19 9q22.32(chr9:98207091-98210940)x1
NC_000001.10:g.(?_45288087)_(45289067_?)dup
NC_000001.10:g.(?_45288087)_(45308604_?)dup
NC_000001.10:g.(?_45290013)_(45292899_?)del
NC_000001.10:g.(?_45295206)_(45297698_?)del
NC_000001.10:g.(?_45307509)_(45308604_?)dup
NC_000001.11:g.(?_44822405)_(44823395_?)dup
NC_000001.11:g.(?_44822405)_(44832351_?)dup
NC_000009.11:g.(?_98204264)_(98271831_?)del
NC_000009.11:g.(?_98209194)_(98220585_?)del
NC_000009.11:g.(?_98226337)_(98248166_?)dup
NC_000009.11:g.(?_98229388)_(98231445_?)del
NC_000009.11:g.(?_98229392)_(98232219_?)del
NC_000009.11:g.(?_98231023)_(98232223_?)del
NC_000009.11:g.(?_98237055)_(98242741_?)del
NC_000009.11:g.(?_98238306)_(98238451_?)del
NC_000009.11:g.(?_98238306)_(98279100_?)del
NC_000009.11:g.(?_98239031)_(98279100_?)del
NC_000009.11:g.(?_98241272)_(98248166_?)dup
NC_000009.11:g.(?_98247957)_(98248166_?)del
NC_000009.11:g.(?_98268679)_(98279100_?)dup
NC_000009.12:g.(?_95101697)_(95508371_?)del
NC_000009.12:g.(?_95101700)_(95508367_?)del
NC_000009.12:g.(?_95442982)_(95508549_?)del
NC_000009.12:g.(?_95446906)_(95508367_?)del
NC_000009.12:g.(?_95446912)_(95508361_?)dup
NC_000009.12:g.(?_95446912)_(95516818_?)del
NC_000009.12:g.(?_95449059)_(95449950_?)del
NC_000009.12:g.(?_95456266)_(95459793_?)del
NC_000009.12:g.(?_95467116)_(95469931_?)del
NC_000009.12:g.95449841dup rs2136607401
NC_000009.12:g.95482041_95482042insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATATTCTATTATC rs2118466034
NM_000264.3(PTCH1):c.1779_2195del
NM_000264.3(PTCH1):c.3168+763_4244del
NM_000264.5(PTCH1):c.*105G>A rs142840663
NM_000264.5(PTCH1):c.*1075A>C rs1020973772
NM_000264.5(PTCH1):c.*1256C>T rs187832324
NM_000264.5(PTCH1):c.*1353T>C rs1837774312
NM_000264.5(PTCH1):c.*1413C>G rs1057515714
NM_000264.5(PTCH1):c.*1638A>G rs1039220329
NM_000264.5(PTCH1):c.*1757C>T rs1837735115
NM_000264.5(PTCH1):c.*1866TG[10] rs59205702
NM_000264.5(PTCH1):c.*1866TG[12] rs59205702
NM_000264.5(PTCH1):c.*186T>G rs977327674
NM_000264.5(PTCH1):c.*1893GT[4] rs531572088
NM_000264.5(PTCH1):c.*2146A>G rs538345753
NM_000264.5(PTCH1):c.*2263T>A rs1837680803
NM_000264.5(PTCH1):c.*2288dup rs548096592
NM_000264.5(PTCH1):c.*2414C>G rs776036229
NM_000264.5(PTCH1):c.*248C>T rs576591779
NM_000264.5(PTCH1):c.*2988TTGT[1] rs139748418
NM_000264.5(PTCH1):c.*3213T>C rs992312438
NM_000264.5(PTCH1):c.*592C>T rs890920802
NM_000264.5(PTCH1):c.*62C>T rs1837877053
NM_000264.5(PTCH1):c.*664dup rs111365480
NM_000264.5(PTCH1):c.*748_*749insACTT rs147342582
NM_000264.5(PTCH1):c.*748_*749insATTT rs1554687587
NM_000264.5(PTCH1):c.*903G>A rs188320042
NM_000264.5(PTCH1):c.*943T>C rs538912814
NM_000264.5(PTCH1):c.-20G>A rs886742178
NM_000264.5(PTCH1):c.-24GGC[3] rs71366293
NM_000264.5(PTCH1):c.-24GGC[4] rs71366293
NM_000264.5(PTCH1):c.-24GGC[6] rs71366293
NM_000264.5(PTCH1):c.-24GGC[8] rs71366293
NM_000264.5(PTCH1):c.-24GGC[9] rs71366293
NM_000264.5(PTCH1):c.-4_-2dup rs1843916701
NM_000264.5(PTCH1):c.1001A>T (p.Tyr334Phe)
NM_000264.5(PTCH1):c.1002T>G (p.Tyr334Ter) rs145867500
NM_000264.5(PTCH1):c.1003A>C (p.Met335Leu)
NM_000264.5(PTCH1):c.1004T>C (p.Met335Thr) rs749049752
NM_000264.5(PTCH1):c.1005G>T (p.Met335Ile)
NM_000264.5(PTCH1):c.1006del (p.His336fs) rs2118392260
NM_000264.5(PTCH1):c.1007_1010dup (p.Trp337Ter)
NM_000264.5(PTCH1):c.1008C>G (p.His336Gln) rs1841405475
NM_000264.5(PTCH1):c.1008C>T (p.His336=) rs1841405475
NM_000264.5(PTCH1):c.1009T>A (p.Trp337Arg) rs2118391966
NM_000264.5(PTCH1):c.1010G>A (p.Trp337Ter)
NM_000264.5(PTCH1):c.1012C>T (p.Gln338Ter) rs1841404957
NM_000264.5(PTCH1):c.1013A>G (p.Gln338Arg)
NM_000264.5(PTCH1):c.1015G>A (p.Glu339Lys)
NM_000264.5(PTCH1):c.1018G>C (p.Glu340Gln)
NM_000264.5(PTCH1):c.101G>A (p.Arg34Lys) rs771847879
NM_000264.5(PTCH1):c.1021T>A (p.Leu341Met) rs780256480
NM_000264.5(PTCH1):c.1023G>A (p.Leu341=)
NM_000264.5(PTCH1):c.1026T>A (p.Ile342=)
NM_000264.5(PTCH1):c.1026T>C (p.Ile342=)
NM_000264.5(PTCH1):c.1027G>A (p.Val343Met) rs1564054554
NM_000264.5(PTCH1):c.1027G>T (p.Val343Leu) rs1564054554
NM_000264.5(PTCH1):c.1030G>T (p.Gly344Cys) rs2118390055
NM_000264.5(PTCH1):c.1031G>A (p.Gly344Asp) rs758585782
NM_000264.5(PTCH1):c.1033G>A (p.Gly345Ser)
NM_000264.5(PTCH1):c.1036A>G (p.Thr346Ala) rs1841400368
NM_000264.5(PTCH1):c.1037C>T (p.Thr346Ile) rs1841400047
NM_000264.5(PTCH1):c.1039G>T (p.Val347Phe) rs1060502279
NM_000264.5(PTCH1):c.103C>T (p.Arg35Trp) rs1385550193
NM_000264.5(PTCH1):c.1041C>G (p.Val347=) rs1588608374
NM_000264.5(PTCH1):c.1041C>T (p.Val347=) rs1588608374
NM_000264.5(PTCH1):c.1045_1048dup (p.Ser350fs) rs2118388624
NM_000264.5(PTCH1):c.1046A>G (p.Asn349Ser)
NM_000264.5(PTCH1):c.1047C>T (p.Asn349=) rs2118388662
NM_000264.5(PTCH1):c.1047del (p.Asn349fs)
NM_000264.5(PTCH1):c.1048A>T (p.Ser350Cys) rs2118388571
NM_000264.5(PTCH1):c.104G>C (p.Arg35Pro)
NM_000264.5(PTCH1):c.1051del (p.Thr351fs) rs2118388351
NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser)
NM_000264.5(PTCH1):c.1053T>C (p.Thr351=)
NM_000264.5(PTCH1):c.1055del (p.Gly352fs) rs2118388096
NM_000264.5(PTCH1):c.1056A>G (p.Gly352=) rs1841396845
NM_000264.5(PTCH1):c.1059A>G (p.Lys353=) rs1588608299
NM_000264.5(PTCH1):c.105G>A (p.Arg35=)
NM_000264.5(PTCH1):c.1060C>T (p.Leu354Phe) rs1588608286
NM_000264.5(PTCH1):c.1062C>G (p.Leu354=) rs1554699558
NM_000264.5(PTCH1):c.1062C>T (p.Leu354=) rs1554699558
NM_000264.5(PTCH1):c.1065C>G (p.Val355=) rs2118387266
NM_000264.5(PTCH1):c.1067+16A>C
NM_000264.5(PTCH1):c.1067+1G>T rs2118387075
NM_000264.5(PTCH1):c.1067+20C>T rs1015971517
NM_000264.5(PTCH1):c.1067+2T>A
NM_000264.5(PTCH1):c.1067+5G>T rs372657547
NM_000264.5(PTCH1):c.1067+6C>G rs1256541464
NM_000264.5(PTCH1):c.1067+6C>T rs1256541464
NM_000264.5(PTCH1):c.1067+7C>G rs2118386733
NM_000264.5(PTCH1):c.1068-10TG[3] rs748406293
NM_000264.5(PTCH1):c.1068-18C>A
NM_000264.5(PTCH1):c.1068-2A>C
NM_000264.5(PTCH1):c.1068-2A>G rs1060502271
NM_000264.5(PTCH1):c.1068-2A>T rs1060502271
NM_000264.5(PTCH1):c.1068-3C>T rs1841335848
NM_000264.5(PTCH1):c.1068-4G>A
NM_000264.5(PTCH1):c.106A>C (p.Thr36Pro) rs1843898216
NM_000264.5(PTCH1):c.1070C>T (p.Ala357Val) rs1841334350
NM_000264.5(PTCH1):c.1076C>G (p.Ala359Gly)
NM_000264.5(PTCH1):c.1076C>T (p.Ala359Val) rs1302357924
NM_000264.5(PTCH1):c.1078C>T (p.Leu360=) rs2118368238
NM_000264.5(PTCH1):c.1079T>C (p.Leu360Pro) rs2118368178
NM_000264.5(PTCH1):c.1081C>T (p.Gln361Ter) rs199476090
NM_000264.5(PTCH1):c.1086C>G (p.Thr362=) rs777969745
NM_000264.5(PTCH1):c.1087A>G (p.Met363Val) rs1342698215
NM_000264.5(PTCH1):c.1088T>C (p.Met363Thr)
NM_000264.5(PTCH1):c.1089G>A (p.Met363Ile) rs1841330687
NM_000264.5(PTCH1):c.108G>A (p.Thr36=) rs1363824163
NM_000264.5(PTCH1):c.108G>T (p.Thr36=) rs1363824163
NM_000264.5(PTCH1):c.1092C>G (p.Phe364Leu) rs2118367698
NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter) rs267606984
NM_000264.5(PTCH1):c.1097T>G (p.Leu366Ter) rs1841329871
NM_000264.5(PTCH1):c.1097del (p.Gln365_Leu366insTer)
NM_000264.5(PTCH1):c.1098A>G (p.Leu366=) rs2118367508
NM_000264.5(PTCH1):c.109G>A (p.Gly37Arg) rs199976372
NM_000264.5(PTCH1):c.109G>T (p.Gly37Trp) rs199976372
NM_000264.5(PTCH1):c.10G>A (p.Ala4Thr)
NM_000264.5(PTCH1):c.1104del (p.Lys370fs)
NM_000264.5(PTCH1):c.1109A>T (p.Lys370Met) rs768024586
NM_000264.5(PTCH1):c.110G>C (p.Gly37Ala) rs748780206
NM_000264.5(PTCH1):c.1114A>G (p.Met372Val)
NM_000264.5(PTCH1):c.1120G>C (p.Glu374Gln)
NM_000264.5(PTCH1):c.1120G>T (p.Glu374Ter) rs144323077
NM_000264.5(PTCH1):c.1122G>T (p.Glu374Asp)
NM_000264.5(PTCH1):c.1124A>T (p.His375Leu)
NM_000264.5(PTCH1):c.1126T>C (p.Phe376Leu)
NM_000264.5(PTCH1):c.1127del (p.Phe376fs)
NM_000264.5(PTCH1):c.1128del (p.Phe376fs) rs1588605746
NM_000264.5(PTCH1):c.1129A>G (p.Lys377Glu) rs1588605721
NM_000264.5(PTCH1):c.112G>A (p.Gly38Arg) rs45574039
NM_000264.5(PTCH1):c.1133G>A (p.Gly378Glu) rs1463870316
NM_000264.5(PTCH1):c.1135T>C (p.Tyr379His) rs1554699212
NM_000264.5(PTCH1):c.1135dup (p.Tyr379fs) rs1554699216
NM_000264.5(PTCH1):c.1136A>G (p.Tyr379Cys) rs1841324703
NM_000264.5(PTCH1):c.1138G>T (p.Glu380Ter) rs772903899
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000264.5(PTCH1):c.113G>C (p.Gly38Ala) rs143494325
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.5(PTCH1):c.1144G>A (p.Val382Ile) rs1841323482
NM_000264.5(PTCH1):c.1148C>A (p.Ser383Ter)
NM_000264.5(PTCH1):c.1149A>C (p.Ser383=)
NM_000264.5(PTCH1):c.114G>A (p.Gly38=) rs1422694536
NM_000264.5(PTCH1):c.114G>C (p.Gly38=) rs1422694536
NM_000264.5(PTCH1):c.114del (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.114dup (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.1150C>G (p.His384Asp) rs2118365949
NM_000264.5(PTCH1):c.1150C>T (p.His384Tyr)
NM_000264.5(PTCH1):c.1151A>C (p.His384Pro) rs1220687550
NM_000264.5(PTCH1):c.1151del (p.His384fs) rs1841322999
NM_000264.5(PTCH1):c.1152C>G (p.His384Gln) rs200246772
NM_000264.5(PTCH1):c.1152C>T (p.His384=) rs200246772
NM_000264.5(PTCH1):c.1154T>C (p.Ile385Thr) rs2118365611
NM_000264.5(PTCH1):c.1155del (p.Asn386fs) rs1060502297
NM_000264.5(PTCH1):c.1157A>G (p.Asn386Ser) rs1564053157
NM_000264.5(PTCH1):c.115C>T (p.Leu39=) rs1587700581
NM_000264.5(PTCH1):c.1160G>A (p.Trp387Ter) rs2118365442
NM_000264.5(PTCH1):c.1161G>A (p.Trp387Ter) rs1588605485
NM_000264.5(PTCH1):c.1161G>C (p.Trp387Cys)
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys) rs1841320331
NM_000264.5(PTCH1):c.1167G>A (p.Glu389=) rs2118365266
NM_000264.5(PTCH1):c.1168G>C (p.Asp390His) rs1588605451
NM_000264.5(PTCH1):c.116T>A (p.Leu39Gln) rs768063889
NM_000264.5(PTCH1):c.116T>C (p.Leu39Pro)
NM_000264.5(PTCH1):c.116_120dup (p.Arg41fs) rs2118908187
NM_000264.5(PTCH1):c.1172A>G (p.Lys391Arg) rs1554699163
NM_000264.5(PTCH1):c.1173A>G (p.Lys391=) rs2118365117
NM_000264.5(PTCH1):c.1178C>A (p.Ala393Glu) rs202020837
NM_000264.5(PTCH1):c.1181C>T (p.Ala394Val) rs2118364801
NM_000264.5(PTCH1):c.1183_1187dup (p.Glu397fs) rs1841317825
NM_000264.5(PTCH1):c.1186C>G (p.Leu396Val) rs371424684
NM_000264.5(PTCH1):c.118C>T (p.Arg40Cys) rs1843895996
NM_000264.5(PTCH1):c.1190_1197del (p.Glu397fs) rs1564053040
NM_000264.5(PTCH1):c.1191G>A (p.Glu397=)
NM_000264.5(PTCH1):c.1194C>A (p.Ala398=)
NM_000264.5(PTCH1):c.1197G>A (p.Trp399Ter)
NM_000264.5(PTCH1):c.1197del (p.Trp399fs) rs2118364366
NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter) rs1588605348
NM_000264.5(PTCH1):c.119G>T (p.Arg40Leu) rs755400723
NM_000264.5(PTCH1):c.11C>G (p.Ala4Gly) rs540045689
NM_000264.5(PTCH1):c.11C>T (p.Ala4Val) rs540045689
NM_000264.5(PTCH1):c.11_12delinsGG (p.Ala4Gly) rs2118910638
NM_000264.5(PTCH1):c.1208A>G (p.Tyr403Cys) rs1588605278
NM_000264.5(PTCH1):c.1208_1209del (p.Tyr403fs) rs1060502286
NM_000264.5(PTCH1):c.1209T>C (p.Tyr403=)
NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter) rs1432645175
NM_000264.5(PTCH1):c.1213G>A (p.Glu405Lys)
NM_000264.5(PTCH1):c.1213G>T (p.Glu405Ter)
NM_000264.5(PTCH1):c.1215+10C>A rs1444052168
NM_000264.5(PTCH1):c.1215+15G>A rs781602634
NM_000264.5(PTCH1):c.1215+15G>T rs781602634
NM_000264.5(PTCH1):c.1215+20G>A
NM_000264.5(PTCH1):c.1215+4A>T
NM_000264.5(PTCH1):c.1215+5A>T
NM_000264.5(PTCH1):c.1215+6C>A
NM_000264.5(PTCH1):c.1215+6C>G rs1371005350
NM_000264.5(PTCH1):c.1215+8C>T rs1588605206
NM_000264.5(PTCH1):c.1215+9A>G
NM_000264.5(PTCH1):c.1216-10G>T rs587780691
NM_000264.5(PTCH1):c.1216-11T>C rs2118340723
NM_000264.5(PTCH1):c.1216-13G>A
NM_000264.5(PTCH1):c.1216-16T>C
NM_000264.5(PTCH1):c.1216-18A>G
NM_000264.5(PTCH1):c.1216-18A>T
NM_000264.5(PTCH1):c.1216-19C>T
NM_000264.5(PTCH1):c.1216-1G>A rs1564051834
NM_000264.5(PTCH1):c.1216-20G>A rs747471269
NM_000264.5(PTCH1):c.1216-20G>T
NM_000264.5(PTCH1):c.1216-8G>A
NM_000264.5(PTCH1):c.1218G>C (p.Val406=)
NM_000264.5(PTCH1):c.1219G>T (p.Val407Phe)
NM_000264.5(PTCH1):c.121C>A (p.Arg41Ser) rs1554709496
NM_000264.5(PTCH1):c.121C>G (p.Arg41Gly)
NM_000264.5(PTCH1):c.121C>T (p.Arg41Cys) rs1554709496
NM_000264.5(PTCH1):c.1221T>A (p.Val407=) rs2118339817
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del) rs1489690325
NM_000264.5(PTCH1):c.1224T>C (p.His408=)
NM_000264.5(PTCH1):c.1224del (p.Gln409fs)
NM_000264.5(PTCH1):c.1225C>T (p.Gln409Ter) rs1588603014
NM_000264.5(PTCH1):c.1226A>G (p.Gln409Arg) rs1841233191
NM_000264.5(PTCH1):c.1226dup (p.Ser410fs)
NM_000264.5(PTCH1):c.1228A>C (p.Ser410Arg)
NM_000264.5(PTCH1):c.122G>C (p.Arg41Pro)
NM_000264.5(PTCH1):c.122G>T (p.Arg41Leu) rs1554709493
NM_000264.5(PTCH1):c.1231G>A (p.Val411Ile)
NM_000264.5(PTCH1):c.1231_1232del (p.Val411fs) rs2118338822
NM_000264.5(PTCH1):c.1231_1232dup (p.Ala412fs)
NM_000264.5(PTCH1):c.1233C>G (p.Val411=) rs752518133
NM_000264.5(PTCH1):c.1234G>A (p.Ala412Thr) rs370354759
NM_000264.5(PTCH1):c.1237C>T (p.Gln413Ter) rs2118338419
NM_000264.5(PTCH1):c.123T>A (p.Arg41=) rs368070922
NM_000264.5(PTCH1):c.1241A>G (p.Asn414Ser) rs2118338120
NM_000264.5(PTCH1):c.1244C>G (p.Ser415Cys) rs1588602943
NM_000264.5(PTCH1):c.1247C>T (p.Thr416Ile) rs201174718
NM_000264.5(PTCH1):c.1248T>C (p.Thr416=) rs863224345
NM_000264.5(PTCH1):c.124G>C (p.Ala42Pro) rs2118908042
NM_000264.5(PTCH1):c.1250A>G (p.Gln417Arg) rs1060502270
NM_000264.5(PTCH1):c.1251A>G (p.Gln417=) rs2118337388
NM_000264.5(PTCH1):c.1253A>T (p.Lys418Met)
NM_000264.5(PTCH1):c.1253del (p.Lys418fs) rs2118337307
NM_000264.5(PTCH1):c.1254G>T (p.Lys418Asn) rs1227338966
NM_000264.5(PTCH1):c.1255G>A (p.Val419Met)
NM_000264.5(PTCH1):c.1255G>T (p.Val419Leu) rs202136156
NM_000264.5(PTCH1):c.1257G>A (p.Val419=) rs1060504535
NM_000264.5(PTCH1):c.1258C>T (p.Leu420Phe) rs1841229239
NM_000264.5(PTCH1):c.125C>G (p.Ala42Gly) rs1030446889
NM_000264.5(PTCH1):c.1261dup (p.Ser421fs) rs2118336503
NM_000264.5(PTCH1):c.1262C>T (p.Ser421Phe) rs1285775586
NM_000264.5(PTCH1):c.1266C>T (p.Phe422=)
NM_000264.5(PTCH1):c.1267A>G (p.Thr423Ala)
NM_000264.5(PTCH1):c.1268C>G (p.Thr423Ser) rs1841228090
NM_000264.5(PTCH1):c.1268C>T (p.Thr423Ile) rs1841228090
NM_000264.5(PTCH1):c.1269C>T (p.Thr423=) rs998906518
NM_000264.5(PTCH1):c.1271C>G (p.Thr424Ser)
NM_000264.5(PTCH1):c.1273A>G (p.Thr425Ala)
NM_000264.5(PTCH1):c.1275G>C (p.Thr425=) rs150837425
NM_000264.5(PTCH1):c.1276A>G (p.Thr426Ala)
NM_000264.5(PTCH1):c.1276A>T (p.Thr426Ser)
NM_000264.5(PTCH1):c.1279C>T (p.Leu427=)
NM_000264.5(PTCH1):c.1283A>G (p.Asp428Gly) rs1554698835
NM_000264.5(PTCH1):c.1283A>T (p.Asp428Val) rs1554698835
NM_000264.5(PTCH1):c.1285G>A (p.Asp429Asn) rs377546733
NM_000264.5(PTCH1):c.1285G>T (p.Asp429Tyr) rs377546733
NM_000264.5(PTCH1):c.1286A>G (p.Asp429Gly) rs1588602719
NM_000264.5(PTCH1):c.1287C>T (p.Asp429=) rs2118333811
NM_000264.5(PTCH1):c.1290C>T (p.Ile430=)
NM_000264.5(PTCH1):c.1291C>G (p.Leu431Val) rs1416185684
NM_000264.5(PTCH1):c.1291C>T (p.Leu431=) rs1416185684
NM_000264.5(PTCH1):c.1292T>C (p.Leu431Pro) rs1564051512
NM_000264.5(PTCH1):c.1295A>C (p.Lys432Thr) rs1841223979
NM_000264.5(PTCH1):c.1295A>G (p.Lys432Arg) rs1841223979
NM_000264.5(PTCH1):c.1296A>C (p.Lys432Asn)
NM_000264.5(PTCH1):c.1296A>T (p.Lys432Asn) rs1564051490
NM_000264.5(PTCH1):c.1298C>T (p.Ser433Phe)
NM_000264.5(PTCH1):c.1299C>A (p.Ser433=) rs1366832439
NM_000264.5(PTCH1):c.1299C>T (p.Ser433=)
NM_000264.5(PTCH1):c.1299_1302dup (p.Ser435fs)
NM_000264.5(PTCH1):c.12T>C (p.Ala4=) rs1843915752
NM_000264.5(PTCH1):c.1300T>C (p.Phe434Leu) rs2118332463
NM_000264.5(PTCH1):c.1301T>C (p.Phe434Ser) rs1841222850
NM_000264.5(PTCH1):c.1302C>A (p.Phe434Leu)
NM_000264.5(PTCH1):c.1302C>T (p.Phe434=) rs2118332323
NM_000264.5(PTCH1):c.1303dup (p.Ser435fs) rs2118332288
NM_000264.5(PTCH1):c.1304C>G (p.Ser435Cys) rs2118332232
NM_000264.5(PTCH1):c.1305T>A (p.Ser435=) rs1554698806
NM_000264.5(PTCH1):c.1305T>C (p.Ser435=)
NM_000264.5(PTCH1):c.1307_1308delinsCA (p.Asp436Ala)
NM_000264.5(PTCH1):c.1307dup (p.Asp436fs) rs1554698800
NM_000264.5(PTCH1):c.1308C>A (p.Asp436Glu) rs148471237
NM_000264.5(PTCH1):c.1308del (p.Asp436fs) rs1060502295
NM_000264.5(PTCH1):c.1309G>A (p.Val437Ile) rs1293146883
NM_000264.5(PTCH1):c.1312A>G (p.Ser438Gly) rs2118331535
NM_000264.5(PTCH1):c.1313G>T (p.Ser438Ile)
NM_000264.5(PTCH1):c.1314T>A (p.Ser438Arg) rs1588602538
NM_000264.5(PTCH1):c.1321C>T (p.Arg441Cys)
NM_000264.5(PTCH1):c.1321del (p.Arg441fs)
NM_000264.5(PTCH1):c.1322G>C (p.Arg441Pro) rs767273237
NM_000264.5(PTCH1):c.1323C>T (p.Arg441=) rs1060504540
NM_000264.5(PTCH1):c.1324G>C (p.Val442Leu)
NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu) rs759493890
NM_000264.5(PTCH1):c.1327G>T (p.Ala443Ser) rs2118330345
NM_000264.5(PTCH1):c.1328C>G (p.Ala443Gly) rs878853845
NM_000264.5(PTCH1):c.1328C>T (p.Ala443Val) rs878853845
NM_000264.5(PTCH1):c.1329del (p.Ser444fs) rs864622374
NM_000264.5(PTCH1):c.132G>A (p.Ala44=) rs375446796
NM_000264.5(PTCH1):c.132G>C (p.Ala44=)
NM_000264.5(PTCH1):c.1331G>A (p.Ser444Asn) rs1588602411
NM_000264.5(PTCH1):c.1332C>A (p.Ser444Arg) rs373930674
NM_000264.5(PTCH1):c.1332_1333insAA (p.Gly445fs) rs1841217203
NM_000264.5(PTCH1):c.1333G>A (p.Gly445Ser) rs2118329828
NM_000264.5(PTCH1):c.1334G>A (p.Gly445Asp) rs2118329688
NM_000264.5(PTCH1):c.1334del (p.Gly445fs) rs1131690978
NM_000264.5(PTCH1):c.1337A>C (p.Tyr446Ser) rs2118329512
NM_000264.5(PTCH1):c.1337A>G (p.Tyr446Cys) rs2118329512
NM_000264.5(PTCH1):c.1338C>A (p.Tyr446Ter) rs2118329441
NM_000264.5(PTCH1):c.133C>G (p.Pro45Ala)
NM_000264.5(PTCH1):c.1341dup (p.Leu448fs) rs1588602354
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val) rs537871675
NM_000264.5(PTCH1):c.1342C>T (p.Leu448Phe)
NM_000264.5(PTCH1):c.1342_1345del (p.Leu448fs) rs1564051237
NM_000264.5(PTCH1):c.1345_1347del (p.Met449del) rs1554698774
NM_000264.5(PTCH1):c.1346T>G (p.Met449Arg) rs1841214843
NM_000264.5(PTCH1):c.1347+10G>C rs370916305
NM_000264.5(PTCH1):c.1347+12T>C rs2118327578
NM_000264.5(PTCH1):c.1347+14C>T
NM_000264.5(PTCH1):c.1347+1G>A
NM_000264.5(PTCH1):c.1347+20T>C
NM_000264.5(PTCH1):c.1347+2T>C rs1841214135
NM_000264.5(PTCH1):c.1347+6G>A rs372655486
NM_000264.5(PTCH1):c.1347+6G>C
NM_000264.5(PTCH1):c.1347+6G>T rs372655486
NM_000264.5(PTCH1):c.1347+9C>G rs775905392
NM_000264.5(PTCH1):c.1348-13G>A rs2118313377
NM_000264.5(PTCH1):c.1348-13G>T rs2118313377
NM_000264.5(PTCH1):c.1348-14_1370del rs1554698613
NM_000264.5(PTCH1):c.1348-16A>G
NM_000264.5(PTCH1):c.1348-17C>G rs2118313541
NM_000264.5(PTCH1):c.1348-17del
NM_000264.5(PTCH1):c.1348-19C>T
NM_000264.5(PTCH1):c.1348-1G>A rs1841170844
NM_000264.5(PTCH1):c.1348-2A>G rs1064793978
NM_000264.5(PTCH1):c.1348-8G>T rs2118313205
NM_000264.5(PTCH1):c.134C>T (p.Pro45Leu)
NM_000264.5(PTCH1):c.1350C>A (p.Leu450=) rs369109033
NM_000264.5(PTCH1):c.1350C>G (p.Leu450=) rs369109033
NM_000264.5(PTCH1):c.1351G>C (p.Ala451Pro)
NM_000264.5(PTCH1):c.1353_1356dup (p.Ala453fs) rs1564050405
NM_000264.5(PTCH1):c.1355A>G (p.Tyr452Cys) rs1255345516
NM_000264.5(PTCH1):c.1355dup (p.Tyr452Ter)
NM_000264.5(PTCH1):c.1356T>A (p.Tyr452Ter)
NM_000264.5(PTCH1):c.1356T>C (p.Tyr452=) rs2118311917
NM_000264.5(PTCH1):c.1359C>G (p.Ala453=) rs1564050395
NM_000264.5(PTCH1):c.135G>A (p.Pro45=)
NM_000264.5(PTCH1):c.1361_1364del (p.Ala453_Cys454insTer) rs2118311257
NM_000264.5(PTCH1):c.1364dup (p.Thr456fs) rs1588600929
NM_000264.5(PTCH1):c.1365A>C (p.Leu455=) rs746805188
NM_000264.5(PTCH1):c.1365A>G (p.Leu455=) rs746805188
NM_000264.5(PTCH1):c.1366A>C (p.Thr456Pro) rs1841168008
NM_000264.5(PTCH1):c.1368C>T (p.Thr456=) rs2118310809
NM_000264.5(PTCH1):c.1370T>A (p.Met457Lys)
NM_000264.5(PTCH1):c.1370T>G (p.Met457Arg) rs2118310654
NM_000264.5(PTCH1):c.1372C>T (p.Leu458=)
NM_000264.5(PTCH1):c.1375C>G (p.Arg459Gly)
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
NM_000264.5(PTCH1):c.1377C>A (p.Arg459=)
NM_000264.5(PTCH1):c.1377C>T (p.Arg459=)
NM_000264.5(PTCH1):c.1378T>C (p.Trp460Arg) rs1841166322
NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter) rs1131690974
NM_000264.5(PTCH1):c.137A>C (p.Asp46Ala) rs1587700483
NM_000264.5(PTCH1):c.1381G>A (p.Asp461Asn)
NM_000264.5(PTCH1):c.1384T>A (p.Cys462Ser) rs1588600865
NM_000264.5(PTCH1):c.1384T>C (p.Cys462Arg)
NM_000264.5(PTCH1):c.1384T>G (p.Cys462Gly)
NM_000264.5(PTCH1):c.1389C>T (p.Ser463=)
NM_000264.5(PTCH1):c.1391A>T (p.Lys464Met)
NM_000264.5(PTCH1):c.1395C>G (p.Ser465=)
NM_000264.5(PTCH1):c.139C>G (p.Arg47Gly) rs138729094
NM_000264.5(PTCH1):c.13G>A (p.Gly5Ser) rs1843915589
NM_000264.5(PTCH1):c.1400G>T (p.Gly467Val)
NM_000264.5(PTCH1):c.1405G>A (p.Val469Met) rs1438523462
NM_000264.5(PTCH1):c.1408G>A (p.Gly470Arg) rs1564050210
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
NM_000264.5(PTCH1):c.140G>A (p.Arg47Gln) rs775408408
NM_000264.5(PTCH1):c.140G>C (p.Arg47Pro)
NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu) rs775408408
NM_000264.5(PTCH1):c.1411C>G (p.Leu471Val)
NM_000264.5(PTCH1):c.1414G>A (p.Ala472Thr) rs899465701
NM_000264.5(PTCH1):c.1414G>T (p.Ala472Ser) rs899465701
NM_000264.5(PTCH1):c.1416_1419del (p.Gly473fs) rs1564050178
NM_000264.5(PTCH1):c.1418G>A (p.Gly473Asp) rs1841159429
NM_000264.5(PTCH1):c.1418_1432del (p.Gly473_Val477del) rs1554698582
NM_000264.5(PTCH1):c.1419C>G (p.Gly473=) rs774841100
NM_000264.5(PTCH1):c.1419_1429del (p.Val474fs) rs2118306407
NM_000264.5(PTCH1):c.141G>A (p.Arg47=)
NM_000264.5(PTCH1):c.1425G>C (p.Leu475=)
NM_000264.5(PTCH1):c.1426C>T (p.Leu476=)
NM_000264.5(PTCH1):c.1428G>T (p.Leu476=)
NM_000264.5(PTCH1):c.142G>A (p.Asp48Asn) rs745685305
NM_000264.5(PTCH1):c.142G>C (p.Asp48His) rs745685305
NM_000264.5(PTCH1):c.142_156dup (p.Arg52_Pro53insAspTyrLeuHisArg)
NM_000264.5(PTCH1):c.1433C>T (p.Ala478Val)
NM_000264.5(PTCH1):c.1435C>G (p.Leu479Val)
NM_000264.5(PTCH1):c.1435C>T (p.Leu479=) rs1298358252
NM_000264.5(PTCH1):c.1435del (p.Leu479fs)
NM_000264.5(PTCH1):c.1437G>A (p.Leu479=) rs1588600596
NM_000264.5(PTCH1):c.1437G>C (p.Leu479=)
NM_000264.5(PTCH1):c.1445C>T (p.Ala482Val)
NM_000264.5(PTCH1):c.1449A>G (p.Ala483=)
NM_000264.5(PTCH1):c.1450G>A (p.Gly484Arg) rs1841155526
NM_000264.5(PTCH1):c.1452A>G (p.Gly484=)
NM_000264.5(PTCH1):c.1455G>A (p.Leu485=) rs2118305061
NM_000264.5(PTCH1):c.1459C>T (p.Leu487=) rs1588600570
NM_000264.5(PTCH1):c.1459_1499del (p.Leu487fs)
NM_000264.5(PTCH1):c.1460T>G (p.Leu487Arg) rs2118304794
NM_000264.5(PTCH1):c.1465T>G (p.Ser489Ala) rs2118304226
NM_000264.5(PTCH1):c.146A>T (p.Tyr49Phe) rs774156512
NM_000264.5(PTCH1):c.1473C>G (p.Ile491Met) rs768183391
NM_000264.5(PTCH1):c.1474G>A (p.Gly492Arg) rs2118303660
NM_000264.5(PTCH1):c.1476A>C (p.Gly492=) rs1057515720
NM_000264.5(PTCH1):c.1476A>G (p.Gly492=) rs1057515720
NM_000264.5(PTCH1):c.147_164del (p.Leu50_Tyr55del) rs1843889325
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala) rs1057515719
NM_000264.5(PTCH1):c.1480dup (p.Ser494fs) rs2118303436
NM_000264.5(PTCH1):c.1481C>G (p.Ser494Cys)
NM_000264.5(PTCH1):c.1481C>T (p.Ser494Phe)
NM_000264.5(PTCH1):c.1482C>G (p.Ser494=)
NM_000264.5(PTCH1):c.1482del (p.Phe495fs)
NM_000264.5(PTCH1):c.1483T>G (p.Phe495Val)
NM_000264.5(PTCH1):c.1485T>C (p.Phe495=)
NM_000264.5(PTCH1):c.1485del (p.Phe495fs) rs1554698531
NM_000264.5(PTCH1):c.1485dup (p.Asn496Ter)
NM_000264.5(PTCH1):c.1487_1488delinsTA (p.Asn496Ile) rs2118303008
NM_000264.5(PTCH1):c.148C>A (p.Leu50Met)
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=) rs1060504538
NM_000264.5(PTCH1):c.1492G>A (p.Ala498Thr) rs1841150573
NM_000264.5(PTCH1):c.1496C>A (p.Thr499Lys) rs1298115628
NM_000264.5(PTCH1):c.1496C>G (p.Thr499Arg)
NM_000264.5(PTCH1):c.149T>C (p.Leu50Pro) rs1019888019
NM_000264.5(PTCH1):c.14G>A (p.Gly5Asp)
NM_000264.5(PTCH1):c.1502A>G (p.Gln501Arg) rs863225054
NM_000264.5(PTCH1):c.1503+16T>C
NM_000264.5(PTCH1):c.1503+17T>G
NM_000264.5(PTCH1):c.1503+19A>G
NM_000264.5(PTCH1):c.1503+1G>C rs864622293
NM_000264.5(PTCH1):c.1503+1G>T rs864622293
NM_000264.5(PTCH1):c.1503+2T>A
NM_000264.5(PTCH1):c.1503+2T>C rs2118302461
NM_000264.5(PTCH1):c.1503+3A>G rs878853846
NM_000264.5(PTCH1):c.1503+4C>A
NM_000264.5(PTCH1):c.1503+7A>C rs779797845
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=) rs1085307511
NM_000264.5(PTCH1):c.1503G>C (p.Gln501His) rs1085307511
NM_000264.5(PTCH1):c.1503G>T (p.Gln501His) rs1085307511
NM_000264.5(PTCH1):c.1504-13_1504-11del
NM_000264.5(PTCH1):c.1504-14T>C
NM_000264.5(PTCH1):c.1504-15_1504-14del
NM_000264.5(PTCH1):c.1504-17C>G rs1196072511
NM_000264.5(PTCH1):c.1504-1G>C rs1057518400
NM_000264.5(PTCH1):c.1504-3T>C rs1588598721
NM_000264.5(PTCH1):c.1504-4G>A rs1588598729
NM_000264.5(PTCH1):c.1504-4G>C
NM_000264.5(PTCH1):c.1504-5T>C
NM_000264.5(PTCH1):c.1504-8_1504-7inv
NM_000264.5(PTCH1):c.1504-8del rs2118287389
NM_000264.5(PTCH1):c.1504-9T>C
NM_000264.5(PTCH1):c.1508T>G (p.Leu503Trp) rs1841078928
NM_000264.5(PTCH1):c.150G>A (p.Leu50=) rs1172557603
NM_000264.5(PTCH1):c.1511C>A (p.Pro504Gln) rs1588598694
NM_000264.5(PTCH1):c.1512A>G (p.Pro504=)
NM_000264.5(PTCH1):c.1516C>T (p.Leu506Phe)
NM_000264.5(PTCH1):c.1518C>T (p.Leu506=) rs1374700325
NM_000264.5(PTCH1):c.151C>T (p.His51Tyr) rs1843891102
NM_000264.5(PTCH1):c.1520C>T (p.Ala507Val)
NM_000264.5(PTCH1):c.1524T>C (p.Leu508=) rs778837458
NM_000264.5(PTCH1):c.1524TGGTGT[1] (p.509GV[1]) rs1841077120
NM_000264.5(PTCH1):c.1525G>C (p.Gly509Arg) rs2118285458
NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp) rs1060502268
NM_000264.5(PTCH1):c.1526G>T (p.Gly509Val) rs1060502268
NM_000264.5(PTCH1):c.1527T>C (p.Gly509=) rs2118285107
NM_000264.5(PTCH1):c.1531G>C (p.Gly511Arg) rs1588598613
NM_000264.5(PTCH1):c.1533T>C (p.Gly511=) rs2118284366
NM_000264.5(PTCH1):c.1537G>A (p.Asp513Asn) rs1588598595
NM_000264.5(PTCH1):c.1538A>T (p.Asp513Val) rs1564048907
NM_000264.5(PTCH1):c.1538ATG[1] (p.Asp514del) rs2118283647
NM_000264.5(PTCH1):c.153C>A (p.His51Gln)
NM_000264.5(PTCH1):c.1541A>G (p.Asp514Gly)
NM_000264.5(PTCH1):c.1543G>A (p.Val515Ile) rs2118283531
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val) rs1554698288
NM_000264.5(PTCH1):c.1549C>T (p.Leu517Phe) rs2118283054
NM_000264.5(PTCH1):c.154C>G (p.Arg52Gly) rs1587700366
NM_000264.5(PTCH1):c.154C>T (p.Arg52Trp) rs1587700366
NM_000264.5(PTCH1):c.1550T>C (p.Leu517Pro)
NM_000264.5(PTCH1):c.1554G>A (p.Leu518=) rs1841075494
NM_000264.5(PTCH1):c.1555_1556delinsTA (p.Ala519Tyr) rs1554698275
NM_000264.5(PTCH1):c.155G>C (p.Arg52Pro) rs777207639
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr) rs781101191
NM_000264.5(PTCH1):c.1562C>T (p.Ala521Val) rs755139183
NM_000264.5(PTCH1):c.1566C>G (p.Phe522Leu) rs2118281892
NM_000264.5(PTCH1):c.1566C>T (p.Phe522=) rs2118281892
NM_000264.5(PTCH1):c.1567A>G (p.Ser523Gly) rs2118281828
NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr) rs751778283
NM_000264.5(PTCH1):c.156G>A (p.Arg52=)
NM_000264.5(PTCH1):c.1571A>C (p.Glu524Ala) rs2118281472
NM_000264.5(PTCH1):c.1573A>G (p.Thr525Ala)
NM_000264.5(PTCH1):c.1577G>A (p.Gly526Glu) rs1841074166
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter) rs1554698260
NM_000264.5(PTCH1):c.157C>T (p.Pro53Ser)
NM_000264.5(PTCH1):c.1583A>G (p.Asn528Ser) rs1841073512
NM_000264.5(PTCH1):c.1583dup (p.Asn528fs) rs1554698258
NM_000264.5(PTCH1):c.1584T>C (p.Asn528=) rs2118280594
NM_000264.5(PTCH1):c.1585A>G (p.Lys529Glu) rs780434261
NM_000264.5(PTCH1):c.1589G>A (p.Arg530Lys) rs1841073027
NM_000264.5(PTCH1):c.158C>A (p.Pro53His) rs372546614
NM_000264.5(PTCH1):c.158C>G (p.Pro53Arg) rs372546614
NM_000264.5(PTCH1):c.1591_1601del (p.Ile531fs) rs863225055
NM_000264.5(PTCH1):c.1592T>C (p.Ile531Thr) rs1227526379
NM_000264.5(PTCH1):c.1596T>A (p.Pro532=) rs1588598399
NM_000264.5(PTCH1):c.1598T>C (p.Phe533Ser) rs1318015818
NM_000264.5(PTCH1):c.159C>G (p.Pro53=)
NM_000264.5(PTCH1):c.1600G>A (p.Glu534Lys) rs1323512738
NM_000264.5(PTCH1):c.1602+12A>G
NM_000264.5(PTCH1):c.1602+13C>G
NM_000264.5(PTCH1):c.1602+14A>G
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.1602+16A>C
NM_000264.5(PTCH1):c.1602+16A>G rs1841069539
NM_000264.5(PTCH1):c.1602+19A>T
NM_000264.5(PTCH1):c.1602+19_1602+20del
NM_000264.5(PTCH1):c.1602+1G>A rs1060502277
NM_000264.5(PTCH1):c.1602+1G>T rs1060502277
NM_000264.5(PTCH1):c.1602+20_1602+22del
NM_000264.5(PTCH1):c.1602+2T>C
NM_000264.5(PTCH1):c.1602+3A>T
NM_000264.5(PTCH1):c.1602+5T>C
NM_000264.5(PTCH1):c.1602+7C>G rs920792441
NM_000264.5(PTCH1):c.1602+7C>T rs920792441
NM_000264.5(PTCH1):c.1602+8A>G rs1554698205
NM_000264.5(PTCH1):c.1602+9A>G
NM_000264.5(PTCH1):c.1603-11T>G
NM_000264.5(PTCH1):c.1603-13T>C
NM_000264.5(PTCH1):c.1603-15T>C
NM_000264.5(PTCH1):c.1603-15T>G
NM_000264.5(PTCH1):c.1603-16_1603-15del rs2118263773
NM_000264.5(PTCH1):c.1603-19T>G
NM_000264.5(PTCH1):c.1603-1G>A rs2118262541
NM_000264.5(PTCH1):c.1603-20C>T
NM_000264.5(PTCH1):c.1603-2A>G rs1064793921
NM_000264.5(PTCH1):c.1603-4C>T
NM_000264.5(PTCH1):c.1603-6T>C rs2118262896
NM_000264.5(PTCH1):c.1603-7T>C
NM_000264.5(PTCH1):c.1603-8A>G
NM_000264.5(PTCH1):c.1603-8A>T rs2118263115
NM_000264.5(PTCH1):c.1603-8del rs2118263201
NM_000264.5(PTCH1):c.1603-9dup rs759445912
NM_000264.5(PTCH1):c.1605C>G (p.Asp535Glu)
NM_000264.5(PTCH1):c.1610C>T (p.Thr537Ile) rs2118261336
NM_000264.5(PTCH1):c.1611C>T (p.Thr537=) rs780344685
NM_000264.5(PTCH1):c.1612G>A (p.Gly538Arg) rs1347882326
NM_000264.5(PTCH1):c.1612G>C (p.Gly538Arg)
NM_000264.5(PTCH1):c.1615G>C (p.Glu539Gln) rs2118260596
NM_000264.5(PTCH1):c.1615del (p.Glu539fs) rs878853847
NM_000264.5(PTCH1):c.1617G>T (p.Glu539Asp) rs1221665069
NM_000264.5(PTCH1):c.1619G>A (p.Cys540Tyr)
NM_000264.5(PTCH1):c.1619G>T (p.Cys540Phe)
NM_000264.5(PTCH1):c.161G>A (p.Ser54Asn)
NM_000264.5(PTCH1):c.1620C>T (p.Cys540=) rs1841017295
NM_000264.5(PTCH1):c.1623G>C (p.Leu541=)
NM_000264.5(PTCH1):c.1624A>C (p.Lys542Gln)
NM_000264.5(PTCH1):c.1624A>T (p.Lys542Ter)
NM_000264.5(PTCH1):c.1625dup (p.Arg543fs) rs1588596702
NM_000264.5(PTCH1):c.1626G>A (p.Lys542=)
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys) rs137903539
NM_000264.5(PTCH1):c.1629C>G (p.Arg543=) rs557468315
NM_000264.5(PTCH1):c.1630A>G (p.Thr544Ala) rs1841014826
NM_000264.5(PTCH1):c.1631C>T (p.Thr544Ile) rs1841014632
NM_000264.5(PTCH1):c.1632A>G (p.Thr544=)
NM_000264.5(PTCH1):c.1636G>A (p.Ala546Thr)
NM_000264.5(PTCH1):c.1637C>G (p.Ala546Gly)
NM_000264.5(PTCH1):c.163T>C (p.Tyr55His) rs1843889465
NM_000264.5(PTCH1):c.1640G>C (p.Ser547Thr) rs1564047095
NM_000264.5(PTCH1):c.1640G>T (p.Ser547Ile) rs1564047095
NM_000264.5(PTCH1):c.1642G>T (p.Val548Leu)
NM_000264.5(PTCH1):c.1647C>T (p.Ala549=) rs2118256501
NM_000264.5(PTCH1):c.164A>G (p.Tyr55Cys) rs1205081001
NM_000264.5(PTCH1):c.1651dup (p.Thr551fs) rs1554697928
NM_000264.5(PTCH1):c.1652C>A (p.Thr551Lys)
NM_000264.5(PTCH1):c.1652C>G (p.Thr551Arg) rs863224649
NM_000264.5(PTCH1):c.1652C>T (p.Thr551Met) rs863224649
NM_000264.5(PTCH1):c.1652_1660del (p.Thr551_Ile553del)
NM_000264.5(PTCH1):c.1654T>G (p.Ser552Ala) rs1841012358
NM_000264.5(PTCH1):c.1654_1655dup (p.Ile553fs) rs2118255495
NM_000264.5(PTCH1):c.1656C>T (p.Ser552=)
NM_000264.5(PTCH1):c.1657A>G (p.Ile553Val)
NM_000264.5(PTCH1):c.1660A>C (p.Ser554Arg) rs1060502282
NM_000264.5(PTCH1):c.1660A>T (p.Ser554Cys) rs1060502282
NM_000264.5(PTCH1):c.1661G>C (p.Ser554Thr) rs148367880
NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile) rs1318405179
NM_000264.5(PTCH1):c.166T>C (p.Cys56Arg)
NM_000264.5(PTCH1):c.1671A>G (p.Thr557=) rs1564046825
NM_000264.5(PTCH1):c.1672G>A (p.Ala558Thr) rs2118253278
NM_000264.5(PTCH1):c.1673C>T (p.Ala558Val)
NM_000264.5(PTCH1):c.1676T>C (p.Phe559Ser)
NM_000264.5(PTCH1):c.1677C>T (p.Phe559=) rs2118252807
NM_000264.5(PTCH1):c.1678T>C (p.Phe560Leu)
NM_000264.5(PTCH1):c.1679T>C (p.Phe560Ser) rs1564046809
NM_000264.5(PTCH1):c.167G>A (p.Cys56Tyr)
NM_000264.5(PTCH1):c.1680C>T (p.Phe560=)
NM_000264.5(PTCH1):c.1681A>G (p.Met561Val) rs1332335605
NM_000264.5(PTCH1):c.1681A>T (p.Met561Leu)
NM_000264.5(PTCH1):c.1682T>C (p.Met561Thr)
NM_000264.5(PTCH1):c.1683G>A (p.Met561Ile) rs1841007617
NM_000264.5(PTCH1):c.1686C>A (p.Ala562=)
NM_000264.5(PTCH1):c.1686C>G (p.Ala562=) rs2066836
NM_000264.5(PTCH1):c.1687G>A (p.Ala563Thr) rs146616780
NM_000264.5(PTCH1):c.1689G>A (p.Ala563=) rs371757261
NM_000264.5(PTCH1):c.1689G>C (p.Ala563=) rs371757261
NM_000264.5(PTCH1):c.1689G>T (p.Ala563=)
NM_000264.5(PTCH1):c.168C>T (p.Cys56=) rs2118906879
NM_000264.5(PTCH1):c.1690T>C (p.Leu564=)
NM_000264.5(PTCH1):c.1691T>A (p.Leu564Ter) rs2118251139
NM_000264.5(PTCH1):c.1693A>G (p.Ile565Val) rs778170244
NM_000264.5(PTCH1):c.1695C>G (p.Ile565Met) rs1564046738
NM_000264.5(PTCH1):c.1698A>C (p.Pro566=) rs2118250352
NM_000264.5(PTCH1):c.1699A>G (p.Ile567Val) rs200504753
NM_000264.5(PTCH1):c.169G>A (p.Asp57Asn)
NM_000264.5(PTCH1):c.16A>G (p.Asn6Asp) rs1587701202
NM_000264.5(PTCH1):c.1704del (p.Ala569fs) rs776154605
NM_000264.5(PTCH1):c.1705G>A (p.Ala569Thr) rs753240797
NM_000264.5(PTCH1):c.1706C>A (p.Ala569Asp) rs766973191
NM_000264.5(PTCH1):c.1706C>G (p.Ala569Gly)
NM_000264.5(PTCH1):c.1706C>T (p.Ala569Val)
NM_000264.5(PTCH1):c.1707T>C (p.Ala569=) rs2118249592
NM_000264.5(PTCH1):c.1708C>G (p.Leu570Val) rs1841004985
NM_000264.5(PTCH1):c.1709_1721del (p.Leu570fs) rs1554697839
NM_000264.5(PTCH1):c.1710G>A (p.Leu570=)
NM_000264.5(PTCH1):c.1710G>C (p.Leu570=) rs374924167
NM_000264.5(PTCH1):c.1713G>A (p.Arg571=) rs762575636
NM_000264.5(PTCH1):c.1714G>A (p.Ala572Thr)
NM_000264.5(PTCH1):c.1714G>T (p.Ala572Ser) rs1588596119
NM_000264.5(PTCH1):c.1715C>T (p.Ala572Val) rs1485556285
NM_000264.5(PTCH1):c.1716G>A (p.Ala572=) rs55844310
NM_000264.5(PTCH1):c.1716G>C (p.Ala572=) rs55844310
NM_000264.5(PTCH1):c.1719C>G (p.Phe573Leu)
NM_000264.5(PTCH1):c.171C>A (p.Asp57Glu) rs1485701312
NM_000264.5(PTCH1):c.171C>G (p.Asp57Glu) rs1485701312
NM_000264.5(PTCH1):c.171C>T (p.Asp57=) rs1485701312
NM_000264.5(PTCH1):c.1721C>T (p.Ser574Phe) rs1841002219
NM_000264.5(PTCH1):c.1722C>A (p.Ser574=)
NM_000264.5(PTCH1):c.1726C>T (p.Gln576Ter)
NM_000264.5(PTCH1):c.1728+12G>C rs2118247350
NM_000264.5(PTCH1):c.1728+14G>A
NM_000264.5(PTCH1):c.1728+15A>T rs771991404
NM_000264.5(PTCH1):c.1728+19A>G rs774363073
NM_000264.5(PTCH1):c.1728+19del rs2118246919
NM_000264.5(PTCH1):c.1728+3G>A
NM_000264.5(PTCH1):c.1728+3G>C rs1588596061
NM_000264.5(PTCH1):c.1728+4A>G
NM_000264.5(PTCH1):c.1728+6C>A rs761805788
NM_000264.5(PTCH1):c.1728+8T>G rs864622243
NM_000264.5(PTCH1):c.1728+9C>T rs1060504541
NM_000264.5(PTCH1):c.1728G>T (p.Gln576His) rs1841001917
NM_000264.5(PTCH1):c.1729-10C>T rs2118100530
NM_000264.5(PTCH1):c.1729-11T>C rs752605765
NM_000264.5(PTCH1):c.1729-11del rs779000277
NM_000264.5(PTCH1):c.1729-11dup rs779000277
NM_000264.5(PTCH1):c.1729-14T>A rs1416846970
NM_000264.5(PTCH1):c.1729-14T>G
NM_000264.5(PTCH1):c.1729-19A>G
NM_000264.5(PTCH1):c.1729-19A>T rs2118101112
NM_000264.5(PTCH1):c.1729-8G>T rs2118100362
NM_000264.5(PTCH1):c.1729G>A (p.Ala577Thr) rs1554695631
NM_000264.5(PTCH1):c.172G>A (p.Ala58Thr) rs1249138008
NM_000264.5(PTCH1):c.1734G>A (p.Ala578=) rs765440424
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del) rs1588578556
NM_000264.5(PTCH1):c.1737_1745del (p.Val580_Val582del) rs1588578536
NM_000264.5(PTCH1):c.1738G>A (p.Val580Ile) rs1840408569
NM_000264.5(PTCH1):c.173C>G (p.Ala58Gly) rs1587700281
NM_000264.5(PTCH1):c.173C>T (p.Ala58Val) rs1587700281
NM_000264.5(PTCH1):c.1741G>C (p.Val581Leu)
NM_000264.5(PTCH1):c.1742T>C (p.Val581Ala) rs777030659
NM_000264.5(PTCH1):c.1744G>A (p.Val582Met)
NM_000264.5(PTCH1):c.1746G>A (p.Val582=) rs1588578518
NM_000264.5(PTCH1):c.1749C>T (p.Phe583=)
NM_000264.5(PTCH1):c.1755_1757delinsGG (p.Phe585fs) rs1554695612
NM_000264.5(PTCH1):c.1756G>A (p.Ala586Thr) rs1699771172
NM_000264.5(PTCH1):c.1758C>A (p.Ala586=) rs2118096020
NM_000264.5(PTCH1):c.1759A>G (p.Met587Val) rs1840405779
NM_000264.5(PTCH1):c.1760T>C (p.Met587Thr) rs1588578473
NM_000264.5(PTCH1):c.1761G>T (p.Met587Ile)
NM_000264.5(PTCH1):c.1764del (p.Leu589fs) rs1564035949
NM_000264.5(PTCH1):c.1768C>T (p.Leu590Phe) rs2118095021
NM_000264.5(PTCH1):c.1770C>T (p.Leu590=)
NM_000264.5(PTCH1):c.1772T>C (p.Ile591Thr)
NM_000264.5(PTCH1):c.1772T>G (p.Ile591Ser) rs2118094624
NM_000264.5(PTCH1):c.1773T>C (p.Ile591=) rs2118094514
NM_000264.5(PTCH1):c.1776dup (p.Pro593fs)
NM_000264.5(PTCH1):c.1780G>T (p.Ala594Ser) rs2118093961
NM_000264.5(PTCH1):c.1781C>T (p.Ala594Val)
NM_000264.5(PTCH1):c.1782A>G (p.Ala594=)
NM_000264.5(PTCH1):c.1788C>T (p.Leu596=) rs2118093248
NM_000264.5(PTCH1):c.1791C>T (p.Ser597=)
NM_000264.5(PTCH1):c.1795G>A (p.Asp599Asn)
NM_000264.5(PTCH1):c.1802A>G (p.Tyr601Cys) rs2118092432
NM_000264.5(PTCH1):c.1804C>T (p.Arg602Ter) rs863224650
NM_000264.5(PTCH1):c.1805G>A (p.Arg602Gln) rs1382474804
NM_000264.5(PTCH1):c.1809C>G (p.Arg603=) rs145690756
NM_000264.5(PTCH1):c.1811A>G (p.Glu604Gly) rs756951491
NM_000264.5(PTCH1):c.1812G>A (p.Glu604=) rs1564035792
NM_000264.5(PTCH1):c.1813G>C (p.Asp605His)
NM_000264.5(PTCH1):c.1815C>T (p.Asp605=) rs1588578295
NM_000264.5(PTCH1):c.1818G>A (p.Arg606=)
NM_000264.5(PTCH1):c.1822C>G (p.Leu608Val) rs1840400624
NM_000264.5(PTCH1):c.1828A>G (p.Ile610Val) rs1588578266
NM_000264.5(PTCH1):c.182C>T (p.Ala61Val)
NM_000264.5(PTCH1):c.183T>C (p.Ala61=) rs2118906517
NM_000264.5(PTCH1):c.1840T>C (p.Phe614Leu) rs1193948667
NM_000264.5(PTCH1):c.1840T>G (p.Phe614Val) rs1193948667
NM_000264.5(PTCH1):c.1842T>C (p.Phe614=) rs2118088756
NM_000264.5(PTCH1):c.1846A>G (p.Ser616Gly) rs1131690983
NM_000264.5(PTCH1):c.1847+16G>A rs2118087400
NM_000264.5(PTCH1):c.1847+17C>T rs1840397379
NM_000264.5(PTCH1):c.1847+19G>A rs2118087215
NM_000264.5(PTCH1):c.1847+1G>A rs1840398430
NM_000264.5(PTCH1):c.1847+1G>T
NM_000264.5(PTCH1):c.1847+2T>G rs2118088248
NM_000264.5(PTCH1):c.1847+4C>T rs2118088023
NM_000264.5(PTCH1):c.1847+5A>G rs1286074829
NM_000264.5(PTCH1):c.1847+6T>C rs2118087853
NM_000264.5(PTCH1):c.1847G>A (p.Ser616Asn)
NM_000264.5(PTCH1):c.1848-10C>T
NM_000264.5(PTCH1):c.1848-11C>G rs2118063448
NM_000264.5(PTCH1):c.1848-19A>G
NM_000264.5(PTCH1):c.1848-3C>G rs2118062649
NM_000264.5(PTCH1):c.1848-7C>A
NM_000264.5(PTCH1):c.1848-7C>T
NM_000264.5(PTCH1):c.1848C>A (p.Ser616Arg)
NM_000264.5(PTCH1):c.184C>G (p.Leu62Val) rs1843886204
NM_000264.5(PTCH1):c.1852T>C (p.Cys618Arg) rs2118062260
NM_000264.5(PTCH1):c.1863_1864del (p.Arg621fs) rs2118060990
NM_000264.5(PTCH1):c.1864G>A (p.Val622Met) rs765258547
NM_000264.5(PTCH1):c.1865T>A (p.Val622Glu)
NM_000264.5(PTCH1):c.186G>A (p.Leu62=)
NM_000264.5(PTCH1):c.1871A>G (p.Gln624Arg) rs1840322792
NM_000264.5(PTCH1):c.1874T>A (p.Val625Asp) rs1175793715
NM_000264.5(PTCH1):c.1875T>C (p.Val625=)
NM_000264.5(PTCH1):c.1878A>G (p.Glu626=)
NM_000264.5(PTCH1):c.187G>A (p.Glu63Lys) rs781768965
NM_000264.5(PTCH1):c.187G>C (p.Glu63Gln) rs781768965
NM_000264.5(PTCH1):c.1882C>T (p.Gln628Ter) rs1060502274
NM_000264.5(PTCH1):c.1883A>C (p.Gln628Pro)
NM_000264.5(PTCH1):c.1885del (p.Ala629fs) rs1554695251
NM_000264.5(PTCH1):c.1889A>C (p.Tyr630Ser) rs1840320961
NM_000264.5(PTCH1):c.1890C>T (p.Tyr630=) rs2118058472
NM_000264.5(PTCH1):c.1892C>A (p.Thr631Asn)
NM_000264.5(PTCH1):c.1894del (p.Asp632fs)
NM_000264.5(PTCH1):c.1895A>G (p.Asp632Gly)
NM_000264.5(PTCH1):c.1896C>A (p.Asp632Glu) rs2118057608
NM_000264.5(PTCH1):c.1897A>G (p.Thr633Ala) rs1840319889
NM_000264.5(PTCH1):c.189G>C (p.Glu63Asp) rs1587700210
NM_000264.5(PTCH1):c.189G>T (p.Glu63Asp) rs1587700210
NM_000264.5(PTCH1):c.18C>A (p.Asn6Lys) rs878853848
NM_000264.5(PTCH1):c.18C>G (p.Asn6Lys)
NM_000264.5(PTCH1):c.18C>T (p.Asn6=) rs878853848
NM_000264.5(PTCH1):c.1900C>A (p.His634Asn) rs764218645
NM_000264.5(PTCH1):c.1900_1907del (p.His634fs)
NM_000264.5(PTCH1):c.1902C>G (p.His634Gln) rs761015917
NM_000264.5(PTCH1):c.1902del (p.His634fs) rs1840319154
NM_000264.5(PTCH1):c.1903G>A (p.Asp635Asn) rs372555269
NM_000264.5(PTCH1):c.1903G>C (p.Asp635His)
NM_000264.5(PTCH1):c.1903G>T (p.Asp635Tyr) rs372555269
NM_000264.5(PTCH1):c.1904A>C (p.Asp635Ala) rs200321717
NM_000264.5(PTCH1):c.1904A>G (p.Asp635Gly)
NM_000264.5(PTCH1):c.1904A>T (p.Asp635Val) rs200321717
NM_000264.5(PTCH1):c.1906A>G (p.Asn636Asp) rs1390308281
NM_000264.5(PTCH1):c.1906A>T (p.Asn636Tyr)
NM_000264.5(PTCH1):c.1907A>G (p.Asn636Ser) rs1588575591
NM_000264.5(PTCH1):c.1908T>C (p.Asn636=) rs538643667
NM_000264.5(PTCH1):c.190C>G (p.Gln64Glu)
NM_000264.5(PTCH1):c.1910C>A (p.Thr637Asn)
NM_000264.5(PTCH1):c.1915T>C (p.Tyr639His)
NM_000264.5(PTCH1):c.1916A>G (p.Tyr639Cys)
NM_000264.5(PTCH1):c.1918A>G (p.Ser640Gly) rs1840315398
NM_000264.5(PTCH1):c.1920C>T (p.Ser640=) rs2118054074
NM_000264.5(PTCH1):c.1923C>A (p.Pro641=)
NM_000264.5(PTCH1):c.1923C>G (p.Pro641=)
NM_000264.5(PTCH1):c.1924C>T (p.Pro642Ser)
NM_000264.5(PTCH1):c.1925C>A (p.Pro642Gln) rs762371629
NM_000264.5(PTCH1):c.1925C>G (p.Pro642Arg) rs762371629
NM_000264.5(PTCH1):c.1926A>G (p.Pro642=)
NM_000264.5(PTCH1):c.1928C>G (p.Pro643Arg)
NM_000264.5(PTCH1):c.192G>A (p.Gln64=) rs1843885224
NM_000264.5(PTCH1):c.192G>C (p.Gln64His) rs1843885224
NM_000264.5(PTCH1):c.192G>T (p.Gln64His)
NM_000264.5(PTCH1):c.1930C>A (p.Pro644Thr) rs1840312910
NM_000264.5(PTCH1):c.1932C>G (p.Pro644=) rs1314908873
NM_000264.5(PTCH1):c.1932C>T (p.Pro644=) rs1314908873
NM_000264.5(PTCH1):c.1936A>G (p.Ser646Gly) rs1588575341
NM_000264.5(PTCH1):c.1938C>T (p.Ser646=) rs2118052414
NM_000264.5(PTCH1):c.1939A>T (p.Ser647Cys) rs2118052357
NM_000264.5(PTCH1):c.1941C>A (p.Ser647Arg) rs2118052149
NM_000264.5(PTCH1):c.1942C>T (p.His648Tyr)
NM_000264.5(PTCH1):c.1943A>G (p.His648Arg)
NM_000264.5(PTCH1):c.1946G>T (p.Ser649Ile) rs2118051663
NM_000264.5(PTCH1):c.194T>C (p.Ile65Thr) rs1843885007
NM_000264.5(PTCH1):c.1953C>T (p.Ala651=)
NM_000264.5(PTCH1):c.1958A>T (p.Glu653Val) rs1554695145
NM_000264.5(PTCH1):c.1962G>A (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.1962G>C (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.1962G>T (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.1965G>T (p.Gln655His) rs2118049998
NM_000264.5(PTCH1):c.1969A>T (p.Thr657Ser) rs1564033929
NM_000264.5(PTCH1):c.1971C>T (p.Thr657=)
NM_000264.5(PTCH1):c.1972A>G (p.Met658Val) rs1448553293
NM_000264.5(PTCH1):c.1975C>T (p.Gln659Ter)
NM_000264.5(PTCH1):c.1978T>A (p.Ser660Thr) rs2118048874
NM_000264.5(PTCH1):c.197C>A (p.Ser66Tyr) rs1025299062
NM_000264.5(PTCH1):c.197C>T (p.Ser66Phe)
NM_000264.5(PTCH1):c.1981A>C (p.Thr661Pro)
NM_000264.5(PTCH1):c.1983T>G (p.Thr661=) rs201955746
NM_000264.5(PTCH1):c.1984G>A (p.Val662Ile) rs1332668908
NM_000264.5(PTCH1):c.1985T>C (p.Val662Ala)
NM_000264.5(PTCH1):c.1987C>T (p.Gln663Ter)
NM_000264.5(PTCH1):c.198C>T (p.Ser66=) rs1355794957
NM_000264.5(PTCH1):c.1990C>G (p.Leu664Val) rs1564033840
NM_000264.5(PTCH1):c.1992C>T (p.Leu664=) rs1466845678
NM_000264.5(PTCH1):c.1994G>T (p.Arg665Leu)
NM_000264.5(PTCH1):c.1995C>G (p.Arg665=)
NM_000264.5(PTCH1):c.1995C>T (p.Arg665=) rs1037533662
NM_000264.5(PTCH1):c.1998G>T (p.Thr666=) rs369710438
NM_000264.5(PTCH1):c.1999G>T (p.Glu667Ter) rs1588574943
NM_000264.5(PTCH1):c.2000A>C (p.Glu667Ala) rs2118046932
NM_000264.5(PTCH1):c.2000A>T (p.Glu667Val)
NM_000264.5(PTCH1):c.2001G>A (p.Glu667=) rs1840303330
NM_000264.5(PTCH1):c.2002T>A (p.Tyr668Asn) rs1564033766
NM_000264.5(PTCH1):c.2003_2004delinsTA (p.Tyr668Leu)
NM_000264.5(PTCH1):c.2007C>A (p.Asp669Glu)
NM_000264.5(PTCH1):c.2007C>G (p.Asp669Glu)
NM_000264.5(PTCH1):c.2009C>T (p.Pro670Leu) rs2118046186
NM_000264.5(PTCH1):c.200A>C (p.Lys67Thr) rs1843883983
NM_000264.5(PTCH1):c.201+10A>G
NM_000264.5(PTCH1):c.201+11G>C
NM_000264.5(PTCH1):c.201+12A>T
NM_000264.5(PTCH1):c.201+13C>T
NM_000264.5(PTCH1):c.201+14T>A
NM_000264.5(PTCH1):c.201+14TC[2] rs758866712
NM_000264.5(PTCH1):c.201+15C>G
NM_000264.5(PTCH1):c.201+15C>T
NM_000264.5(PTCH1):c.201+16T>A
NM_000264.5(PTCH1):c.201+16_201+19del
NM_000264.5(PTCH1):c.201+17C>G rs750650083
NM_000264.5(PTCH1):c.201+17C>T rs750650083
NM_000264.5(PTCH1):c.201+18T>C rs2118905834
NM_000264.5(PTCH1):c.201+19C>A rs765308113
NM_000264.5(PTCH1):c.201+1G>T
NM_000264.5(PTCH1):c.201+20C>T
NM_000264.5(PTCH1):c.201+2_201+3dup rs2118906154
NM_000264.5(PTCH1):c.201+3G>A rs1394306522
NM_000264.5(PTCH1):c.201+3G>T rs1394306522
NM_000264.5(PTCH1):c.201+5A>G rs1843883183
NM_000264.5(PTCH1):c.201+8del rs2118906058
NM_000264.5(PTCH1):c.201+9C>T rs751905115
NM_000264.5(PTCH1):c.2010_2011dup (p.His671fs) rs1554695110
NM_000264.5(PTCH1):c.2011C>G (p.His671Asp) rs376678753
NM_000264.5(PTCH1):c.2011dup (p.His671fs) rs1554695110
NM_000264.5(PTCH1):c.2013C>T (p.His671=) rs2118045866
NM_000264.5(PTCH1):c.2014A>G (p.Thr672Ala)
NM_000264.5(PTCH1):c.2017C>A (p.His673Asn)
NM_000264.5(PTCH1):c.2017C>G (p.His673Asp)
NM_000264.5(PTCH1):c.202-11T>C
NM_000264.5(PTCH1):c.202-12C>T
NM_000264.5(PTCH1):c.202-16_227del rs1554708795
NM_000264.5(PTCH1):c.202-18C>T rs2118881910
NM_000264.5(PTCH1):c.202-1G>C rs2118881561
NM_000264.5(PTCH1):c.202-2A>C rs878853849
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000264.5(PTCH1):c.202-3C>T rs1353756463
NM_000264.5(PTCH1):c.202-4C>G rs1587693895
NM_000264.5(PTCH1):c.202-4C>T rs1587693895
NM_000264.5(PTCH1):c.202-5C>T
NM_000264.5(PTCH1):c.202-8G>C rs750693438
NM_000264.5(PTCH1):c.202-8G>T rs750693438
NM_000264.5(PTCH1):c.202-9C>G rs1843669657
NM_000264.5(PTCH1):c.202-9C>T rs1843669657
NM_000264.5(PTCH1):c.2020G>C (p.Val674Leu)
NM_000264.5(PTCH1):c.2021dup (p.Tyr675fs) rs2118045103
NM_000264.5(PTCH1):c.2023T>C (p.Tyr675His) rs2118044840
NM_000264.5(PTCH1):c.2024A>G (p.Tyr675Cys)
NM_000264.5(PTCH1):c.2026T>C (p.Tyr676His)
NM_000264.5(PTCH1):c.2027A>G (p.Tyr676Cys) rs1274998781
NM_000264.5(PTCH1):c.2028C>T (p.Tyr676=) rs2118044447
NM_000264.5(PTCH1):c.2031C>T (p.Thr677=) rs2118044176
NM_000264.5(PTCH1):c.2032A>G (p.Thr678Ala)
NM_000264.5(PTCH1):c.2036C>T (p.Ala679Val)
NM_000264.5(PTCH1):c.2037T>C (p.Ala679=)
NM_000264.5(PTCH1):c.2042C>G (p.Pro681Arg) rs1588574709
NM_000264.5(PTCH1):c.2042C>T (p.Pro681Leu)
NM_000264.5(PTCH1):c.2044C>G (p.Arg682Gly) rs570441437
NM_000264.5(PTCH1):c.2049C>G (p.Ser683=) rs756242911
NM_000264.5(PTCH1):c.204G>A (p.Gly68=) rs547930654
NM_000264.5(PTCH1):c.204G>T (p.Gly68=) rs547930654
NM_000264.5(PTCH1):c.2050G>C (p.Glu684Gln)
NM_000264.5(PTCH1):c.2050G>T (p.Glu684Ter)
NM_000264.5(PTCH1):c.2057C>G (p.Ser686Cys) rs1373585633
NM_000264.5(PTCH1):c.2057_2058dup (p.Val687fs) rs2118041703
NM_000264.5(PTCH1):c.2059G>C (p.Val687Leu)
NM_000264.5(PTCH1):c.2059G>T (p.Val687Leu)
NM_000264.5(PTCH1):c.2059del (p.Val687fs)
NM_000264.5(PTCH1):c.2060del (p.Val687fs)
NM_000264.5(PTCH1):c.2061G>T (p.Val687=) rs1588574610
NM_000264.5(PTCH1):c.2062C>T (p.Gln688Ter) rs1554695039
NM_000264.5(PTCH1):c.2067C>A (p.Pro689=) rs758799508
NM_000264.5(PTCH1):c.2068G>C (p.Val690Leu) rs750970743
NM_000264.5(PTCH1):c.2069T>C (p.Val690Ala) rs1840294655
NM_000264.5(PTCH1):c.2072C>T (p.Thr691Ile) rs1840294159
NM_000264.5(PTCH1):c.2078C>T (p.Thr693Ile)
NM_000264.5(PTCH1):c.2079A>G (p.Thr693=)
NM_000264.5(PTCH1):c.207G>A (p.Lys69=) rs1320211956
NM_000264.5(PTCH1):c.2080C>G (p.Gln694Glu)
NM_000264.5(PTCH1):c.2080C>T (p.Gln694Ter) rs1840292996
NM_000264.5(PTCH1):c.2083G>A (p.Asp695Asn) rs2118039182
NM_000264.5(PTCH1):c.2085C>A (p.Asp695Glu) rs1452372504
NM_000264.5(PTCH1):c.2086A>C (p.Thr696Pro)
NM_000264.5(PTCH1):c.2086A>T (p.Thr696Ser) rs1588574496
NM_000264.5(PTCH1):c.2086dup (p.Thr696fs)
NM_000264.5(PTCH1):c.2090T>C (p.Leu697Pro)
NM_000264.5(PTCH1):c.2090T>G (p.Leu697Arg) rs199892130
NM_000264.5(PTCH1):c.2091C>T (p.Leu697=) rs2118038595
NM_000264.5(PTCH1):c.2095T>G (p.Cys699Gly)
NM_000264.5(PTCH1):c.2096G>C (p.Cys699Ser) rs547829353
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val) rs764137082
NM_000264.5(PTCH1):c.20C>G (p.Ala7Gly) rs1564092028
NM_000264.5(PTCH1):c.20C>T (p.Ala7Val) rs1564092028
NM_000264.5(PTCH1):c.2102G>T (p.Ser701Ile) rs775235892
NM_000264.5(PTCH1):c.2103C>T (p.Ser701=)
NM_000264.5(PTCH1):c.2104C>T (p.Pro702Ser) rs2118037487
NM_000264.5(PTCH1):c.2107G>A (p.Glu703Lys) rs2118037130
NM_000264.5(PTCH1):c.2107G>T (p.Glu703Ter) rs2118037130
NM_000264.5(PTCH1):c.2109G>A (p.Glu703=)
NM_000264.5(PTCH1):c.2110A>G (p.Ser704Gly) rs1182895378
NM_000264.5(PTCH1):c.2111G>A (p.Ser704Asn)
NM_000264.5(PTCH1):c.2112C>A (p.Ser704Arg)
NM_000264.5(PTCH1):c.2114C>T (p.Thr705Ile)
NM_000264.5(PTCH1):c.2115C>A (p.Thr705=)
NM_000264.5(PTCH1):c.2117G>A (p.Ser706Asn) rs140497736
NM_000264.5(PTCH1):c.211A>T (p.Thr71Ser)
NM_000264.5(PTCH1):c.2120C>G (p.Ser707Cys) rs1840288367
NM_000264.5(PTCH1):c.2121C>T (p.Ser707=) rs1588574313
NM_000264.5(PTCH1):c.2122A>C (p.Thr708Pro)
NM_000264.5(PTCH1):c.2122A>G (p.Thr708Ala)
NM_000264.5(PTCH1):c.2125A>C (p.Arg709=) rs2118035695
NM_000264.5(PTCH1):c.2126G>A (p.Arg709Lys) rs1840287540
NM_000264.5(PTCH1):c.2126G>C (p.Arg709Thr)
NM_000264.5(PTCH1):c.2131C>T (p.Leu711=)
NM_000264.5(PTCH1):c.2134C>G (p.Leu712Val) rs587780696
NM_000264.5(PTCH1):c.2134C>T (p.Leu712Phe) rs587780696
NM_000264.5(PTCH1):c.2137T>G (p.Ser713Ala)
NM_000264.5(PTCH1):c.2138C>G (p.Ser713Cys) rs1554694963
NM_000264.5(PTCH1):c.2144del (p.Phe715fs) rs2118033907
NM_000264.5(PTCH1):c.2145C>T (p.Phe715=) rs1300358041
NM_000264.5(PTCH1):c.2146T>C (p.Ser716Pro) rs1564033174
NM_000264.5(PTCH1):c.2148dup (p.Asp717fs) rs1840283586
NM_000264.5(PTCH1):c.214G>A (p.Gly72Ser)
NM_000264.5(PTCH1):c.2151C>T (p.Asp717=)
NM_000264.5(PTCH1):c.2153C>A (p.Ser718Tyr) rs2118032855
NM_000264.5(PTCH1):c.2154C>T (p.Ser718=) rs2118032734
NM_000264.5(PTCH1):c.2156G>A (p.Ser719Asn) rs1840282022
NM_000264.5(PTCH1):c.2156G>C (p.Ser719Thr) rs1840282022
NM_000264.5(PTCH1):c.2159T>A (p.Leu720His)
NM_000264.5(PTCH1):c.2160C>G (p.Leu720=)
NM_000264.5(PTCH1):c.2162A>G (p.His721Arg)
NM_000264.5(PTCH1):c.2163C>T (p.His721=) rs2118031842
NM_000264.5(PTCH1):c.2163del (p.Cys722fs) rs1840281213
NM_000264.5(PTCH1):c.2168T>G (p.Leu723Arg) rs1554694943
NM_000264.5(PTCH1):c.2169C>G (p.Leu723=)
NM_000264.5(PTCH1):c.216C>G (p.Gly72=) rs1383963652
NM_000264.5(PTCH1):c.2170G>C (p.Glu724Gln) rs144501989
NM_000264.5(PTCH1):c.2172dup (p.Pro725fs) rs2118031073
NM_000264.5(PTCH1):c.2174C>A (p.Pro725His) rs963297092
NM_000264.5(PTCH1):c.2177C>A (p.Pro726His) rs587780697
NM_000264.5(PTCH1):c.2177C>T (p.Pro726Leu) rs587780697
NM_000264.5(PTCH1):c.2178C>G (p.Pro726=) rs1588573960
NM_000264.5(PTCH1):c.2178dup (p.Cys727fs) rs2118030407
NM_000264.5(PTCH1):c.2179T>A (p.Cys727Ser) rs779167673
NM_000264.5(PTCH1):c.2179T>G (p.Cys727Gly) rs779167673
NM_000264.5(PTCH1):c.2179del (p.Cys727fs) rs1840277125
NM_000264.5(PTCH1):c.2180G>A (p.Cys727Tyr)
NM_000264.5(PTCH1):c.2181T>C (p.Cys727=)
NM_000264.5(PTCH1):c.2183_2189del (p.Thr728fs)
NM_000264.5(PTCH1):c.218G>A (p.Arg73Gln)
NM_000264.5(PTCH1):c.2190G>A (p.Trp730Ter) rs1131690992
NM_000264.5(PTCH1):c.2190G>C (p.Trp730Cys) rs1131690992
NM_000264.5(PTCH1):c.2192C>T (p.Thr731Ile) rs2118029007
NM_000264.5(PTCH1):c.2196C>T (p.Leu732=) rs1355356596
NM_000264.5(PTCH1):c.2197T>C (p.Ser733Pro) rs2118028468
NM_000264.5(PTCH1):c.2197_2198del (p.Ser733fs) rs1060502292
NM_000264.5(PTCH1):c.2198C>A (p.Ser733Ter) rs1311804361
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter) rs1311804361
NM_000264.5(PTCH1):c.2199_2203del (p.Ser734fs) rs2118027698
NM_000264.5(PTCH1):c.21C>A (p.Ala7=)
NM_000264.5(PTCH1):c.2204T>A (p.Phe735Tyr) rs2118027491
NM_000264.5(PTCH1):c.2204_2205del (p.Phe735fs) rs2118027397
NM_000264.5(PTCH1):c.2212A>T (p.Lys738Ter) rs2118026370
NM_000264.5(PTCH1):c.2215_2216delinsTT (p.His739Phe) rs864622295
NM_000264.5(PTCH1):c.2216A>G (p.His739Arg)
NM_000264.5(PTCH1):c.2220T>A (p.Tyr740Ter)
NM_000264.5(PTCH1):c.2220T>C (p.Tyr740=)
NM_000264.5(PTCH1):c.2225C>G (p.Pro742Arg) rs1185984575
NM_000264.5(PTCH1):c.2225C>T (p.Pro742Leu) rs1185984575
NM_000264.5(PTCH1):c.2227T>C (p.Phe743Leu) rs1840271655
NM_000264.5(PTCH1):c.2229C>T (p.Phe743=) rs1009657162
NM_000264.5(PTCH1):c.222A>G (p.Lys74=)
NM_000264.5(PTCH1):c.2230C>G (p.Leu744Val)
NM_000264.5(PTCH1):c.2233T>C (p.Leu745=) rs1840271123
NM_000264.5(PTCH1):c.2235G>C (p.Leu745Phe) rs749283740
NM_000264.5(PTCH1):c.2238A>G (p.Lys746=)
NM_000264.5(PTCH1):c.2238A>T (p.Lys746Asn) rs776817244
NM_000264.5(PTCH1):c.2239C>T (p.Pro747Ser)
NM_000264.5(PTCH1):c.223G>A (p.Ala75Thr)
NM_000264.5(PTCH1):c.2240C>A (p.Pro747Gln) rs1840269986
NM_000264.5(PTCH1):c.2244del (p.Ala749fs) rs1564032829
NM_000264.5(PTCH1):c.2245G>A (p.Ala749Thr)
NM_000264.5(PTCH1):c.224C>T (p.Ala75Val)
NM_000264.5(PTCH1):c.2250+19A>T
NM_000264.5(PTCH1):c.2250+1G>T
NM_000264.5(PTCH1):c.2250+4_2250+5dup
NM_000264.5(PTCH1):c.2250+6C>T
NM_000264.5(PTCH1):c.2250+9C>T rs1840268803
NM_000264.5(PTCH1):c.2251-12C>T
NM_000264.5(PTCH1):c.2251-15C>A
NM_000264.5(PTCH1):c.2251-15C>T
NM_000264.5(PTCH1):c.2251-16G>A
NM_000264.5(PTCH1):c.2251-17T>C rs2117977225
NM_000264.5(PTCH1):c.2251-18G>A rs777219377
NM_000264.5(PTCH1):c.2251-18G>T rs777219377
NM_000264.5(PTCH1):c.2251-1G>A
NM_000264.5(PTCH1):c.2251-27_2251-1del
NM_000264.5(PTCH1):c.2251-28_2276del rs1564031259
NM_000264.5(PTCH1):c.2251-2A>C rs2117976305
NM_000264.5(PTCH1):c.2251-2A>G rs2117976305
NM_000264.5(PTCH1):c.2251-3C>G rs1588569651
NM_000264.5(PTCH1):c.2251-4C>G
NM_000264.5(PTCH1):c.2251-7G>C rs1459536795
NM_000264.5(PTCH1):c.2251-7del rs2117976757
NM_000264.5(PTCH1):c.2251-8del rs2117976871
NM_000264.5(PTCH1):c.2253A>C (p.Val751=)
NM_000264.5(PTCH1):c.2254G>A (p.Val752Met) rs2117976199
NM_000264.5(PTCH1):c.2256G>A (p.Val752=) rs1060504536
NM_000264.5(PTCH1):c.2256_2259del (p.Val753fs) rs1840114155
NM_000264.5(PTCH1):c.2257G>A (p.Val753Met) rs1588569635
NM_000264.5(PTCH1):c.2258T>C (p.Val753Ala) rs1840114511
NM_000264.5(PTCH1):c.2260A>G (p.Ile754Val)
NM_000264.5(PTCH1):c.2262C>T (p.Ile754=)
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
NM_000264.5(PTCH1):c.2266_2272dup (p.Leu758fs) rs2117975028
NM_000264.5(PTCH1):c.226C>A (p.Pro76Thr) rs997156828
NM_000264.5(PTCH1):c.2271T>C (p.Phe757=) rs1588569604
NM_000264.5(PTCH1):c.2272C>T (p.Leu758=) rs863224346
NM_000264.5(PTCH1):c.2274G>T (p.Leu758=)
NM_000264.5(PTCH1):c.2276G>C (p.Gly759Ala) rs2117974684
NM_000264.5(PTCH1):c.2277C>T (p.Gly759=)
NM_000264.5(PTCH1):c.2285G>A (p.Gly762Glu) rs1840110120
NM_000264.5(PTCH1):c.2286G>C (p.Gly762=) rs2117974113
NM_000264.5(PTCH1):c.2286G>T (p.Gly762=)
NM_000264.5(PTCH1):c.2286_2287dup (p.Val763fs)
NM_000264.5(PTCH1):c.2287G>A (p.Val763Ile) rs544963328
NM_000264.5(PTCH1):c.2287dup (p.Val763fs) rs1840109796
NM_000264.5(PTCH1):c.2288T>C (p.Val763Ala)
NM_000264.5(PTCH1):c.228G>C (p.Pro76=)
NM_000264.5(PTCH1):c.2293C>G (p.Leu765Val)
NM_000264.5(PTCH1):c.2296del (p.Tyr766fs) rs2117973287
NM_000264.5(PTCH1):c.229C>G (p.Leu77Val)
NM_000264.5(PTCH1):c.229C>T (p.Leu77=)
NM_000264.5(PTCH1):c.22G>A (p.Ala8Thr) rs2118910390
NM_000264.5(PTCH1):c.22G>T (p.Ala8Ser) rs2118910390
NM_000264.5(PTCH1):c.2303C>G (p.Thr768Ser) rs878853850
NM_000264.5(PTCH1):c.2305_2319del (p.Thr769_Asp773del)
NM_000264.5(PTCH1):c.2308C>G (p.Arg770Gly)
NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter) rs766313615
NM_000264.5(PTCH1):c.2308del (p.Arg770fs)
NM_000264.5(PTCH1):c.2312T>C (p.Val771Ala)
NM_000264.5(PTCH1):c.2315G>A (p.Arg772Lys) rs1840106487
NM_000264.5(PTCH1):c.2319C>A (p.Asp773Glu) rs141134542
NM_000264.5(PTCH1):c.2320G>A (p.Gly774Arg) rs2117971100
NM_000264.5(PTCH1):c.2322G>C (p.Gly774=) rs2117970840
NM_000264.5(PTCH1):c.2322dup (p.Leu775fs) rs2117970934
NM_000264.5(PTCH1):c.2324T>A (p.Leu775Gln)
NM_000264.5(PTCH1):c.2325G>C (p.Leu775=) rs765736670
NM_000264.5(PTCH1):c.2328C>G (p.Asp776Glu) rs923429610
NM_000264.5(PTCH1):c.2329C>G (p.Leu777Val)
NM_000264.5(PTCH1):c.2329C>T (p.Leu777Phe)
NM_000264.5(PTCH1):c.232_233del (p.Trp78fs)
NM_000264.5(PTCH1):c.2332A>G (p.Thr778Ala) rs869025270
NM_000264.5(PTCH1):c.2332dup (p.Thr778fs) rs2117970002
NM_000264.5(PTCH1):c.2337C>T (p.Asp779=) rs1840103199
NM_000264.5(PTCH1):c.2338A>C (p.Ile780Leu) rs1388496324
NM_000264.5(PTCH1):c.2338A>G (p.Ile780Val) rs1388496324
NM_000264.5(PTCH1):c.233G>A (p.Trp78Ter) rs1843665508
NM_000264.5(PTCH1):c.2340T>C (p.Ile780=) rs1367566469
NM_000264.5(PTCH1):c.2341G>C (p.Val781Leu)
NM_000264.5(PTCH1):c.2342T>C (p.Val781Ala) rs2117968922
NM_000264.5(PTCH1):c.2342dup (p.Pro782fs) rs1060502294
NM_000264.5(PTCH1):c.2345C>T (p.Pro782Leu)
NM_000264.5(PTCH1):c.2346T>C (p.Pro782=) rs2117968482
NM_000264.5(PTCH1):c.2346del (p.Arg783fs) rs1840101155
NM_000264.5(PTCH1):c.2347C>A (p.Arg783=) rs1060502293
NM_000264.5(PTCH1):c.2347C>G (p.Arg783Gly) rs1060502293
NM_000264.5(PTCH1):c.2347C>T (p.Arg783Trp) rs1060502293
NM_000264.5(PTCH1):c.2348G>T (p.Arg783Leu) rs779296683
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter) rs1554708787
NM_000264.5(PTCH1):c.234G>T (p.Trp78Cys) rs1554708787
NM_000264.5(PTCH1):c.2352A>T (p.Glu784Asp) rs1840099623
NM_000264.5(PTCH1):c.2356A>G (p.Arg786Gly) rs2117967668
NM_000264.5(PTCH1):c.2358A>C (p.Arg786Ser)
NM_000264.5(PTCH1):c.2359G>A (p.Glu787Lys)
NM_000264.5(PTCH1):c.2359G>T (p.Glu787Ter) rs1840098608
NM_000264.5(PTCH1):c.235C>A (p.Leu79Met) rs1564088372
NM_000264.5(PTCH1):c.235C>G (p.Leu79Val)
NM_000264.5(PTCH1):c.235C>T (p.Leu79=)
NM_000264.5(PTCH1):c.2360A>G (p.Glu787Gly) rs1588569206
NM_000264.5(PTCH1):c.2362T>G (p.Tyr788Asp) rs1454135593
NM_000264.5(PTCH1):c.2365G>C (p.Asp789His) rs1840096887
NM_000264.5(PTCH1):c.2368T>G (p.Phe790Val) rs1840096220
NM_000264.5(PTCH1):c.2369_2370del (p.Phe790fs) rs2117966753
NM_000264.5(PTCH1):c.2370T>A (p.Phe790Leu) rs1060502300
NM_000264.5(PTCH1):c.2370del (p.Phe790fs) rs2117966753
NM_000264.5(PTCH1):c.2370dup (p.Ile791fs) rs2117966753
NM_000264.5(PTCH1):c.2372T>C (p.Ile791Thr) rs1564030910
NM_000264.5(PTCH1):c.2372_2373dup (p.Ala792fs)
NM_000264.5(PTCH1):c.2373T>C (p.Ile791=) rs2117966513
NM_000264.5(PTCH1):c.2376T>C (p.Ala792=) rs878853851
NM_000264.5(PTCH1):c.2377G>A (p.Ala793Thr) rs1554694390
NM_000264.5(PTCH1):c.2377G>C (p.Ala793Pro) rs1554694390
NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter) rs1840094606
NM_000264.5(PTCH1):c.2382A>G (p.Gln794=) rs2117965810
NM_000264.5(PTCH1):c.2382del (p.Gln794fs) rs2117965922
NM_000264.5(PTCH1):c.2383T>C (p.Phe795Leu)
NM_000264.5(PTCH1):c.2388A>C (p.Lys796Asn)
NM_000264.5(PTCH1):c.2391C>A (p.Tyr797Ter) rs778260156
NM_000264.5(PTCH1):c.2397T>C (p.Ser799=) rs1588568996
NM_000264.5(PTCH1):c.239G>A (p.Arg80Lys)
NM_000264.5(PTCH1):c.239G>C (p.Arg80Thr)
NM_000264.5(PTCH1):c.23C>T (p.Ala8Val) rs1843914282
NM_000264.5(PTCH1):c.2400C>A (p.Phe800Leu) rs1840091372
NM_000264.5(PTCH1):c.2402A>G (p.Tyr801Cys)
NM_000264.5(PTCH1):c.2403C>A (p.Tyr801Ter)
NM_000264.5(PTCH1):c.2404A>G (p.Asn802Asp)
NM_000264.5(PTCH1):c.2405A>G (p.Asn802Ser) rs1840091155
NM_000264.5(PTCH1):c.2407_2408del (p.Met803fs)
NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr) rs1554694376
NM_000264.5(PTCH1):c.2412T>C (p.Tyr804=)
NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val) rs1554694372
NM_000264.5(PTCH1):c.2416G>A (p.Val806Ile) rs2117961342
NM_000264.5(PTCH1):c.2417_2424dup (p.Lys809fs) rs2117960287
NM_000264.5(PTCH1):c.241G>A (p.Ala81Thr) rs2118880380
NM_000264.5(PTCH1):c.2420C>T (p.Thr807Ile) rs1840089871
NM_000264.5(PTCH1):c.2421C>A (p.Thr807=)
NM_000264.5(PTCH1):c.2422C>G (p.Gln808Glu) rs1840089681
NM_000264.5(PTCH1):c.2423A>G (p.Gln808Arg)
NM_000264.5(PTCH1):c.242C>G (p.Ala81Gly) rs1843664597
NM_000264.5(PTCH1):c.2435A>G (p.Tyr812Cys)
NM_000264.5(PTCH1):c.2435_2438del (p.Asp811_Tyr812insTer) rs2117958655
NM_000264.5(PTCH1):c.2437C>T (p.Pro813Ser)
NM_000264.5(PTCH1):c.2438C>G (p.Pro813Arg)
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup) rs1588568813
NM_000264.5(PTCH1):c.2439G>T (p.Pro813=) rs151266988
NM_000264.5(PTCH1):c.243G>A (p.Ala81=) rs1444883189
NM_000264.5(PTCH1):c.2444_2454del (p.Ile815fs) rs2117956624
NM_000264.5(PTCH1):c.2445C>A (p.Ile815=) rs1351609452
NM_000264.5(PTCH1):c.2446C>T (p.Gln816Ter)
NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg) rs1564030731
NM_000264.5(PTCH1):c.244delinsCTTCTGAG (p.Lys82fs)
NM_000264.5(PTCH1):c.2450A>C (p.His817Pro) rs1564030723
NM_000264.5(PTCH1):c.2450A>G (p.His817Arg) rs1564030723
NM_000264.5(PTCH1):c.2453T>A (p.Leu818Ter)
NM_000264.5(PTCH1):c.2454dup (p.Leu819fs)
NM_000264.5(PTCH1):c.2456T>C (p.Leu819Pro)
NM_000264.5(PTCH1):c.245A>G (p.Lys82Arg) rs1587693690
NM_000264.5(PTCH1):c.2463C>T (p.Asp821=) rs2117956030
NM_000264.5(PTCH1):c.2470A>G (p.Arg824Gly)
NM_000264.5(PTCH1):c.2471G>A (p.Arg824Lys)
NM_000264.5(PTCH1):c.2472G>A (p.Arg824=) rs2117955057
NM_000264.5(PTCH1):c.2477T>C (p.Phe826Ser) rs1174748645
NM_000264.5(PTCH1):c.2477del (p.Phe826fs) rs2117954271
NM_000264.5(PTCH1):c.2478C>G (p.Phe826Leu)
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu) rs1263611523
NM_000264.5(PTCH1):c.2484del (p.Asn828fs) rs2117953276
NM_000264.5(PTCH1):c.2485G>T (p.Val829Leu) rs201125580
NM_000264.5(PTCH1):c.2487G>C (p.Val829=) rs774573762
NM_000264.5(PTCH1):c.2488A>C (p.Lys830Gln)
NM_000264.5(PTCH1):c.2490G>A (p.Lys830=) rs2117952150
NM_000264.5(PTCH1):c.2492A>G (p.Tyr831Cys) rs2117951860
NM_000264.5(PTCH1):c.2493T>A (p.Tyr831Ter) rs2117951765
NM_000264.5(PTCH1):c.2494G>A (p.Val832Ile) rs1253407915
NM_000264.5(PTCH1):c.2495T>A (p.Val832Asp) rs786204167
NM_000264.5(PTCH1):c.2498T>C (p.Met833Thr) rs1060502269
NM_000264.5(PTCH1):c.2499G>A (p.Met833Ile) rs1840081126
NM_000264.5(PTCH1):c.24C>T (p.Ala8=) rs2118910366
NM_000264.5(PTCH1):c.2500T>C (p.Leu834=)
NM_000264.5(PTCH1):c.2503G>T (p.Glu835Ter) rs1588568595
NM_000264.5(PTCH1):c.250C>G (p.Gln84Glu)
NM_000264.5(PTCH1):c.250C>T (p.Gln84Ter)
NM_000264.5(PTCH1):c.250_251del (p.Gln84fs) rs1843663751
NM_000264.5(PTCH1):c.2511C>A (p.Asn837Lys) rs1588568559
NM_000264.5(PTCH1):c.2511C>G (p.Asn837Lys)
NM_000264.5(PTCH1):c.2511C>T (p.Asn837=) rs1588568559
NM_000264.5(PTCH1):c.2511del (p.Asn837fs) rs2117949826
NM_000264.5(PTCH1):c.2513A>C (p.Lys838Thr) rs1220749812
NM_000264.5(PTCH1):c.2513A>T (p.Lys838Ile)
NM_000264.5(PTCH1):c.2513_2516del (p.Lys838fs) rs1588568477
NM_000264.5(PTCH1):c.2514A>G (p.Lys838=) rs149134846
NM_000264.5(PTCH1):c.2514dup (p.Gln839fs)
NM_000264.5(PTCH1):c.2515C>T (p.Gln839Ter) rs1564030530
NM_000264.5(PTCH1):c.2517G>A (p.Gln839=)
NM_000264.5(PTCH1):c.2518C>T (p.Leu840Phe)
NM_000264.5(PTCH1):c.251_258del (p.Gln84fs) rs1587693623
NM_000264.5(PTCH1):c.2521C>A (p.Pro841Thr)
NM_000264.5(PTCH1):c.2527A>T (p.Met843Leu)
NM_000264.5(PTCH1):c.252G>A (p.Gln84=) rs587780698
NM_000264.5(PTCH1):c.2530T>C (p.Trp844Arg) rs2117947928
NM_000264.5(PTCH1):c.2531G>C (p.Trp844Ser) rs2117947811
NM_000264.5(PTCH1):c.2532G>A (p.Trp844Ter)
NM_000264.5(PTCH1):c.2532G>C (p.Trp844Cys) rs1840077192
NM_000264.5(PTCH1):c.2532G>T (p.Trp844Cys) rs1840077192
NM_000264.5(PTCH1):c.2535G>A (p.Leu845=) rs1226541991
NM_000264.5(PTCH1):c.2539_2542delinsAG (p.Tyr847fs) rs863225467
NM_000264.5(PTCH1):c.253A>C (p.Arg85=) rs1554708772
NM_000264.5(PTCH1):c.253A>G (p.Arg85Gly) rs1554708772
NM_000264.5(PTCH1):c.2540A>G (p.Tyr847Cys) rs1352235060
NM_000264.5(PTCH1):c.2541C>T (p.Tyr847=) rs863224347
NM_000264.5(PTCH1):c.2544C>T (p.Phe848=)
NM_000264.5(PTCH1):c.2545del (p.Arg849fs) rs2117946757
NM_000264.5(PTCH1):c.2548G>C (p.Asp850His) rs41313327
NM_000264.5(PTCH1):c.254_255del (p.Arg85fs) rs1554708771
NM_000264.5(PTCH1):c.2555T>C (p.Leu852Pro) rs1554694254
NM_000264.5(PTCH1):c.2558A>C (p.Gln853Pro) rs587778628
NM_000264.5(PTCH1):c.2560+12T>A
NM_000264.5(PTCH1):c.2560+15G>A rs1840072057
NM_000264.5(PTCH1):c.2560+15_2560+16insCA
NM_000264.5(PTCH1):c.2560+19C>T
NM_000264.5(PTCH1):c.2560+1G>A
NM_000264.5(PTCH1):c.2560+20T>G rs750223422
NM_000264.5(PTCH1):c.2560+7C>A rs75576651
NM_000264.5(PTCH1):c.2560+8_2560+9delinsAC rs863224348
NM_000264.5(PTCH1):c.2560+9G>T
NM_000264.5(PTCH1):c.2560+9_2560+10delinsCT rs863224349
NM_000264.5(PTCH1):c.2561-10C>A rs763935951
NM_000264.5(PTCH1):c.2561-15A>T
NM_000264.5(PTCH1):c.2561-16C>A rs1588551982
NM_000264.5(PTCH1):c.2561-17T>C
NM_000264.5(PTCH1):c.2561-1G>A rs1131691700
NM_000264.5(PTCH1):c.2561-20C>G
NM_000264.5(PTCH1):c.2561-2A>G rs878853852
NM_000264.5(PTCH1):c.2561-2A>T rs878853852
NM_000264.5(PTCH1):c.2561-8A>G rs2136690155
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=) rs751613059
NM_000264.5(PTCH1):c.2569del (p.Asp857fs)
NM_000264.5(PTCH1):c.2570A>G (p.Asp857Gly)
NM_000264.5(PTCH1):c.2572G>A (p.Ala858Thr) rs1703756604
NM_000264.5(PTCH1):c.2572G>T (p.Ala858Ser) rs1703756604
NM_000264.5(PTCH1):c.2573C>T (p.Ala858Val)
NM_000264.5(PTCH1):c.2573del (p.Ala858fs) rs2136689747
NM_000264.5(PTCH1):c.2581A>G (p.Ser861Gly)
NM_000264.5(PTCH1):c.2582G>A (p.Ser861Asn) rs2136689511
NM_000264.5(PTCH1):c.2582del (p.Ser861fs) rs2136689543
NM_000264.5(PTCH1):c.2587T>C (p.Trp863Arg)
NM_000264.5(PTCH1):c.2588G>A (p.Trp863Ter) rs1839516520
NM_000264.5(PTCH1):c.2589G>T (p.Trp863Cys) rs1277861627
NM_000264.5(PTCH1):c.258C>A (p.Leu86=) rs1060504533
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs) rs864622212
NM_000264.5(PTCH1):c.2590G>T (p.Glu864Ter) rs2136689297
NM_000264.5(PTCH1):c.2592A>G (p.Glu864=) rs1839515955
NM_000264.5(PTCH1):c.2594C>G (p.Thr865Ser) rs1839515437
NM_000264.5(PTCH1):c.2595C>G (p.Thr865=)
NM_000264.5(PTCH1):c.2595del (p.Ile868fs) rs2136689212
NM_000264.5(PTCH1):c.2597G>A (p.Gly866Glu) rs863224651
NM_000264.5(PTCH1):c.2598G>A (p.Gly866=) rs2136689118
NM_000264.5(PTCH1):c.259T>C (p.Leu87=)
NM_000264.5(PTCH1):c.259_260del (p.Leu87fs) rs1554708760
NM_000264.5(PTCH1):c.259_264del (p.Leu87_Phe88del) rs1060502296
NM_000264.5(PTCH1):c.25G>A (p.Glu9Lys) rs1843914121
NM_000264.5(PTCH1):c.2601A>G (p.Lys867=) rs568888639
NM_000264.5(PTCH1):c.2605A>G (p.Met869Val) rs2136689015
NM_000264.5(PTCH1):c.2606T>A (p.Met869Lys) rs1345518847
NM_000264.5(PTCH1):c.2607G>A (p.Met869Ile) rs2136688957
NM_000264.5(PTCH1):c.260dup (p.Leu87fs) rs2118879524
NM_000264.5(PTCH1):c.2611A>G (p.Asn871Asp)
NM_000264.5(PTCH1):c.2615A>C (p.Asn872Thr) rs769029578
NM_000264.5(PTCH1):c.2617T>C (p.Tyr873His) rs2136688723
NM_000264.5(PTCH1):c.2618A>G (p.Tyr873Cys) rs1839512647
NM_000264.5(PTCH1):c.2619C>G (p.Tyr873Ter) rs1554692291
NM_000264.5(PTCH1):c.2620A>G (p.Lys874Glu) rs2136688658
NM_000264.5(PTCH1):c.2622G>T (p.Lys874Asn)
NM_000264.5(PTCH1):c.2625T>C (p.Asn875=) rs1389183150
NM_000264.5(PTCH1):c.262_265del (p.Phe88fs) rs2118879343
NM_000264.5(PTCH1):c.2634C>A (p.Asp878Glu) rs771732591
NM_000264.5(PTCH1):c.2634C>G (p.Asp878Glu) rs771732591
NM_000264.5(PTCH1):c.2634C>T (p.Asp878=) rs771732591
NM_000264.5(PTCH1):c.2637T>C (p.Asp879=) rs2136688208
NM_000264.5(PTCH1):c.2639del (p.Gly880fs) rs1554692266
NM_000264.5(PTCH1):c.2641G>A (p.Val881Ile)
NM_000264.5(PTCH1):c.2642T>C (p.Val881Ala) rs1839509519
NM_000264.5(PTCH1):c.2643C>G (p.Val881=) rs1588551617
NM_000264.5(PTCH1):c.2651A>C (p.Tyr884Ser)
NM_000264.5(PTCH1):c.2651A>G (p.Tyr884Cys) rs2136687938
NM_000264.5(PTCH1):c.2658C>G (p.Leu886=)
NM_000264.5(PTCH1):c.2659C>T (p.Leu887=) rs2136687780
NM_000264.5(PTCH1):c.2661G>T (p.Leu887=) rs1487503503
NM_000264.5(PTCH1):c.2664G>A (p.Val888=) rs2136687667
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu) rs1839507201
NM_000264.5(PTCH1):c.2667A>G (p.Gln889=) rs777777450
NM_000264.5(PTCH1):c.2667A>T (p.Gln889His) rs777777450
NM_000264.5(PTCH1):c.2669C>A (p.Thr890Asn)
NM_000264.5(PTCH1):c.2669C>T (p.Thr890Ile)
NM_000264.5(PTCH1):c.266A>G (p.Lys89Arg) rs1843661629
NM_000264.5(PTCH1):c.267A>C (p.Lys89Asn)
NM_000264.5(PTCH1):c.2684A>C (p.Lys895Thr) rs1839503876
NM_000264.5(PTCH1):c.2684dup (p.Pro896fs) rs2136687071
NM_000264.5(PTCH1):c.2687C>T (p.Pro896Leu) rs1839503471
NM_000264.5(PTCH1):c.268C>T (p.Leu90=) rs1587693584
NM_000264.5(PTCH1):c.2690T>G (p.Ile897Ser)
NM_000264.5(PTCH1):c.2691C>T (p.Ile897=) rs1055193050
NM_000264.5(PTCH1):c.2692G>C (p.Asp898His)
NM_000264.5(PTCH1):c.2697C>G (p.Ile899Met) rs1588551373
NM_000264.5(PTCH1):c.2698dup (p.Ser900fs)
NM_000264.5(PTCH1):c.2701C>A (p.Gln901Lys)
NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter) rs1064796618
NM_000264.5(PTCH1):c.2702_2703+4del
NM_000264.5(PTCH1):c.2703+10C>G rs1390398176
NM_000264.5(PTCH1):c.2703+12G>A rs1295275193
NM_000264.5(PTCH1):c.2703+1G>A
NM_000264.5(PTCH1):c.2703+20C>T
NM_000264.5(PTCH1):c.2703+4C>T rs1839501465
NM_000264.5(PTCH1):c.2703+6C>G rs956716678
NM_000264.5(PTCH1):c.2703+6C>T rs956716678
NM_000264.5(PTCH1):c.2704-12C>T
NM_000264.5(PTCH1):c.2704-1G>A
NM_000264.5(PTCH1):c.2704-23CT[3] rs2136673668
NM_000264.5(PTCH1):c.2704-4G>T rs864622248
NM_000264.5(PTCH1):c.2704-5del rs2136673527
NM_000264.5(PTCH1):c.2704T>C (p.Leu902=) rs1348603148
NM_000264.5(PTCH1):c.2706G>A (p.Leu902=) rs993814839
NM_000264.5(PTCH1):c.2707A>G (p.Thr903Ala)
NM_000264.5(PTCH1):c.2708C>G (p.Thr903Ser) rs1564021882
NM_000264.5(PTCH1):c.2709T>C (p.Thr903=)
NM_000264.5(PTCH1):c.270_304del (p.Tyr93fs) rs864622583
NM_000264.5(PTCH1):c.2710A>C (p.Lys904Gln) rs2136673392
NM_000264.5(PTCH1):c.2712_2714del (p.Gln905del)
NM_000264.5(PTCH1):c.2713C>A (p.Gln905Lys) rs864622088
NM_000264.5(PTCH1):c.2713C>T (p.Gln905Ter) rs864622088
NM_000264.5(PTCH1):c.2716C>T (p.Arg906Cys) rs1588545099
NM_000264.5(PTCH1):c.2721G>C (p.Leu907=) rs2136673149
NM_000264.5(PTCH1):c.2723_2724del (p.Val908fs) rs1839298779
NM_000264.5(PTCH1):c.2724G>T (p.Val908=) rs1564021832
NM_000264.5(PTCH1):c.2725G>A (p.Asp909Asn) rs1588545054
NM_000264.5(PTCH1):c.2725G>C (p.Asp909His) rs1588545054
NM_000264.5(PTCH1):c.2727T>C (p.Asp909=) rs1588545040
NM_000264.5(PTCH1):c.2729C>G (p.Ala910Gly)
NM_000264.5(PTCH1):c.272G>C (p.Gly91Ala)
NM_000264.5(PTCH1):c.272_278dup (p.Tyr93Ter) rs2118878946
NM_000264.5(PTCH1):c.2730A>C (p.Ala910=)
NM_000264.5(PTCH1):c.2730A>G (p.Ala910=) rs1588545017
NM_000264.5(PTCH1):c.2732A>T (p.Asp911Val) rs1839297206
NM_000264.5(PTCH1):c.2733T>A (p.Asp911Glu) rs1839296987
NM_000264.5(PTCH1):c.2736_2742dup (p.Asn915delinsHisHisTer) rs2136672811
NM_000264.5(PTCH1):c.2737_2741dup (p.Asn915fs)
NM_000264.5(PTCH1):c.2747C>T (p.Pro916Leu) rs1588544970
NM_000264.5(PTCH1):c.2750G>T (p.Ser917Ile) rs1588544954
NM_000264.5(PTCH1):c.2752G>A (p.Ala918Thr) rs2136672620
NM_000264.5(PTCH1):c.2757C>T (p.Phe919=) rs1588544920
NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)
NM_000264.5(PTCH1):c.275G>T (p.Cys92Phe)
NM_000264.5(PTCH1):c.2760C>T (p.Tyr920=) rs1588544909
NM_000264.5(PTCH1):c.2763C>A (p.Ile921=)
NM_000264.5(PTCH1):c.2763C>G (p.Ile921Met) rs1564021738
NM_000264.5(PTCH1):c.2765A>C (p.Tyr922Ser) rs2136672306
NM_000264.5(PTCH1):c.2766C>A (p.Tyr922Ter) rs1554691698
NM_000264.5(PTCH1):c.2766C>T (p.Tyr922=) rs1554691698
NM_000264.5(PTCH1):c.2769G>C (p.Leu923=) rs2136672215
NM_000264.5(PTCH1):c.2770A>T (p.Thr924Ser)
NM_000264.5(PTCH1):c.2772G>A (p.Thr924=) rs1554691694
NM_000264.5(PTCH1):c.2772G>T (p.Thr924=) rs1554691694
NM_000264.5(PTCH1):c.2773_2776delinsTAC (p.Ala925fs)
NM_000264.5(PTCH1):c.2777G>C (p.Trp926Ser) rs2136672063
NM_000264.5(PTCH1):c.2778G>A (p.Trp926Ter)
NM_000264.5(PTCH1):c.277T>C (p.Tyr93His)
NM_000264.5(PTCH1):c.2782A>G (p.Ser928Gly) rs786204224
NM_000264.5(PTCH1):c.2782A>T (p.Ser928Cys) rs786204224
NM_000264.5(PTCH1):c.2783G>C (p.Ser928Thr) rs1554691690
NM_000264.5(PTCH1):c.278A>G (p.Tyr93Cys) rs1564088256
NM_000264.5(PTCH1):c.278dup (p.Tyr93Ter) rs1587693544
NM_000264.5(PTCH1):c.2790C>A (p.Asp930Glu)
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu) rs1839290937
NM_000264.5(PTCH1):c.2796C>A (p.Val932=) rs747931365
NM_000264.5(PTCH1):c.2796C>T (p.Val932=)
NM_000264.5(PTCH1):c.2798C>T (p.Ala933Val) rs768558478
NM_000264.5(PTCH1):c.2799del (p.Tyr934fs) rs863224484
NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer) rs1554708753
NM_000264.5(PTCH1):c.27G>A (p.Glu9=) rs1354741081
NM_000264.5(PTCH1):c.2801A>T (p.Tyr934Phe) rs1209943415
NM_000264.5(PTCH1):c.2802T>G (p.Tyr934Ter) rs1356231878
NM_000264.5(PTCH1):c.2803G>C (p.Ala935Pro) rs1554691676
NM_000264.5(PTCH1):c.2805T>C (p.Ala935=) rs1588544550
NM_000264.5(PTCH1):c.2806G>T (p.Ala936Ser) rs1588544538
NM_000264.5(PTCH1):c.2808C>T (p.Ala936=) rs1393599414
NM_000264.5(PTCH1):c.280A>G (p.Ile94Val) rs1843660253
NM_000264.5(PTCH1):c.2810C>T (p.Ser937Phe) rs1839284772
NM_000264.5(PTCH1):c.2811C>G (p.Ser937=)
NM_000264.5(PTCH1):c.2811C>T (p.Ser937=) rs2136671267
NM_000264.5(PTCH1):c.2812C>G (p.Gln938Glu) rs778810550
NM_000264.5(PTCH1):c.2812C>T (p.Gln938Ter)
NM_000264.5(PTCH1):c.2814G>C (p.Gln938His) rs587780534
NM_000264.5(PTCH1):c.2816C>G (p.Ala939Gly)
NM_000264.5(PTCH1):c.2818A>G (p.Asn940Asp) rs1564021422
NM_000264.5(PTCH1):c.2819A>G (p.Asn940Ser) rs749406453
NM_000264.5(PTCH1):c.2823C>G (p.Ile941Met) rs1839283096
NM_000264.5(PTCH1):c.2823C>T (p.Ile941=) rs1839283096
NM_000264.5(PTCH1):c.2824C>G (p.Arg942Gly) rs756465236
NM_000264.5(PTCH1):c.2824del (p.Arg942fs)
NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln) rs767225445
NM_000264.5(PTCH1):c.2825G>C (p.Arg942Pro) rs767225445
NM_000264.5(PTCH1):c.2826G>A (p.Arg942=) rs934070764
NM_000264.5(PTCH1):c.2827C>T (p.Pro943Ser)
NM_000264.5(PTCH1):c.2829A>G (p.Pro943=) rs150739122
NM_000264.5(PTCH1):c.2830C>T (p.His944Tyr) rs1588544426
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.2837_2838delinsAG (p.Pro946Gln)
NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter) rs1587693508
NM_000264.5(PTCH1):c.2842T>C (p.Trp948Arg)
NM_000264.5(PTCH1):c.2842_2849del (p.Trp948fs) rs863224485
NM_000264.5(PTCH1):c.2844G>A (p.Trp948Ter) rs2136670613
NM_000264.5(PTCH1):c.2845G>T (p.Val949Phe)
NM_000264.5(PTCH1):c.2851G>T (p.Asp951Tyr) rs1588544328
NM_000264.5(PTCH1):c.2853C>G (p.Asp951Glu)
NM_000264.5(PTCH1):c.2857G>A (p.Ala953Thr)
NM_000264.5(PTCH1):c.2863T>C (p.Tyr955His) rs2136670259
NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe) rs1839276876
NM_000264.5(PTCH1):c.2868G>A (p.Met956Ile) rs761501958
NM_000264.5(PTCH1):c.2869C>G (p.Pro957Ala) rs1839275609
NM_000264.5(PTCH1):c.2869C>T (p.Pro957Ser) rs1839275609
NM_000264.5(PTCH1):c.286A>C (p.Lys96Gln)
NM_000264.5(PTCH1):c.286A>G (p.Lys96Glu) rs532713234
NM_000264.5(PTCH1):c.2870C>G (p.Pro957Arg) rs1376533047
NM_000264.5(PTCH1):c.2870del (p.Pro957fs)
NM_000264.5(PTCH1):c.2876C>T (p.Thr959Ile) rs776378611
NM_000264.5(PTCH1):c.2879G>C (p.Arg960Thr)
NM_000264.5(PTCH1):c.2881C>T (p.Leu961=) rs1839273856
NM_000264.5(PTCH1):c.2886_2887insCTA (p.Arg962_Ile963insLeu) rs2136669790
NM_000264.5(PTCH1):c.2887+14T>C
NM_000264.5(PTCH1):c.2887+16T>C
NM_000264.5(PTCH1):c.2887+18G>C
NM_000264.5(PTCH1):c.2887+1G>A
NM_000264.5(PTCH1):c.2887+4A>G rs1588544193
NM_000264.5(PTCH1):c.2887+4_2887+7del rs2136669708
NM_000264.5(PTCH1):c.2887+7A>G rs2136669701
NM_000264.5(PTCH1):c.2888-10C>T rs2136663073
NM_000264.5(PTCH1):c.2888-12T>G
NM_000264.5(PTCH1):c.2888-13C>T
NM_000264.5(PTCH1):c.2888-15C>G rs1372660225
NM_000264.5(PTCH1):c.2888-15C>T rs1372660225
NM_000264.5(PTCH1):c.2888-16G>T rs776279907
NM_000264.5(PTCH1):c.2888-17dup rs2136663140
NM_000264.5(PTCH1):c.2888-18G>A
NM_000264.5(PTCH1):c.2888-4C>T rs1411872086
NM_000264.5(PTCH1):c.2888-8C>T rs567994836
NM_000264.5(PTCH1):c.2888-9T>C
NM_000264.5(PTCH1):c.2889C>G (p.Ile963Met) rs878853853
NM_000264.5(PTCH1):c.288A>G (p.Lys96=) rs1843659466
NM_000264.5(PTCH1):c.2890C>A (p.Pro964Thr) rs1839141749
NM_000264.5(PTCH1):c.2890C>G (p.Pro964Ala) rs1839141749
NM_000264.5(PTCH1):c.2892G>T (p.Pro964=)
NM_000264.5(PTCH1):c.2897C>G (p.Ala966Gly)
NM_000264.5(PTCH1):c.289_290del (p.Asn97fs) rs1554708751
NM_000264.5(PTCH1):c.28C>T (p.Pro10Ser) rs1587701162
NM_000264.5(PTCH1):c.2902C>T (p.Pro968Ser)
NM_000264.5(PTCH1):c.2904C>G (p.Pro968=) rs1554691433
NM_000264.5(PTCH1):c.2904C>T (p.Pro968=)
NM_000264.5(PTCH1):c.2907C>G (p.Ile969Met) rs748318700
NM_000264.5(PTCH1):c.2907C>T (p.Ile969=) rs748318700
NM_000264.5(PTCH1):c.2908G>A (p.Glu970Lys) rs1201956507
NM_000264.5(PTCH1):c.290_291insG (p.Asn97fs)
NM_000264.5(PTCH1):c.290_291insT (p.Cys98fs)
NM_000264.5(PTCH1):c.290del (p.Asn97fs) rs1554708751
NM_000264.5(PTCH1):c.290dup (p.Asn97fs) rs1554708751
NM_000264.5(PTCH1):c.2914G>C (p.Ala972Pro) rs2136662633
NM_000264.5(PTCH1):c.2915C>G (p.Ala972Gly)
NM_000264.5(PTCH1):c.2916C>G (p.Ala972=) rs1313745659
NM_000264.5(PTCH1):c.2917C>T (p.Gln973Ter)
NM_000264.5(PTCH1):c.2919G>T (p.Gln973His) rs1564019804
NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu)
NM_000264.5(PTCH1):c.2922C>T (p.Phe974=) rs747385350
NM_000264.5(PTCH1):c.2924del (p.Pro975fs)
NM_000264.5(PTCH1):c.2925T>C (p.Pro975=) rs2136662510
NM_000264.5(PTCH1):c.2928C>G (p.Phe976Leu) rs1588540820
NM_000264.5(PTCH1):c.292T>G (p.Cys98Gly)
NM_000264.5(PTCH1):c.2931_2932insGTAGA (p.Leu978fs) rs1554691423
NM_000264.5(PTCH1):c.2933T>C (p.Leu978Pro) rs863224652
NM_000264.5(PTCH1):c.2934C>A (p.Leu978=) rs1588540781
NM_000264.5(PTCH1):c.2935A>C (p.Asn979His) rs1588540767
NM_000264.5(PTCH1):c.2936A>T (p.Asn979Ile)
NM_000264.5(PTCH1):c.2940C>T (p.Gly980=)
NM_000264.5(PTCH1):c.2943G>C (p.Leu981Phe)
NM_000264.5(PTCH1):c.2944C>A (p.Arg982=) rs867973996
NM_000264.5(PTCH1):c.2944C>G (p.Arg982Gly) rs867973996
NM_000264.5(PTCH1):c.2944C>T (p.Arg982Trp)
NM_000264.5(PTCH1):c.2949C>T (p.Asp983=) rs1204950098
NM_000264.5(PTCH1):c.2950A>T (p.Thr984Ser) rs1839130173
NM_000264.5(PTCH1):c.2952C>T (p.Thr984=)
NM_000264.5(PTCH1):c.2954C>G (p.Ser985Ter) rs760297274
NM_000264.5(PTCH1):c.2954_2965del (p.Ser985_Glu989delinsTer)
NM_000264.5(PTCH1):c.2955A>G (p.Ser985=)
NM_000264.5(PTCH1):c.2961T>C (p.Phe987=) rs2136662098
NM_000264.5(PTCH1):c.2962G>A (p.Val988Met)
NM_000264.5(PTCH1):c.2964G>A (p.Val988=)
NM_000264.5(PTCH1):c.2965G>T (p.Glu989Ter) rs1472299295
NM_000264.5(PTCH1):c.296G>A (p.Gly99Asp) rs753884837
NM_000264.5(PTCH1):c.296G>T (p.Gly99Val) rs753884837
NM_000264.5(PTCH1):c.296del (p.Gly99fs) rs1564088181
NM_000264.5(PTCH1):c.2970A>T (p.Ala990=) rs112405848
NM_000264.5(PTCH1):c.2971A>G (p.Ile991Val) rs1189382722
NM_000264.5(PTCH1):c.2972T>C (p.Ile991Thr)
NM_000264.5(PTCH1):c.2974G>T (p.Glu992Ter) rs1060502278
NM_000264.5(PTCH1):c.2975A>G (p.Glu992Gly)
NM_000264.5(PTCH1):c.2978A>G (p.Lys993Arg) rs2136661892
NM_000264.5(PTCH1):c.297C>G (p.Gly99=) rs772407797
NM_000264.5(PTCH1):c.297C>T (p.Gly99=) rs772407797
NM_000264.5(PTCH1):c.2980G>A (p.Val994Ile) rs1588540545
NM_000264.5(PTCH1):c.2982A>T (p.Val994=) rs1588540533
NM_000264.5(PTCH1):c.2984G>A (p.Arg995Lys) rs1839126241
NM_000264.5(PTCH1):c.2987_2988delinsAT (p.Thr996Asn) rs2136661772
NM_000264.5(PTCH1):c.2993G>A (p.Cys998Tyr) rs1839124943
NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)
NM_000264.5(PTCH1):c.3000C>G (p.Asn1000Lys) rs2136661651
NM_000264.5(PTCH1):c.3000C>T (p.Asn1000=) rs2136661651
NM_000264.5(PTCH1):c.3001T>C (p.Tyr1001His)
NM_000264.5(PTCH1):c.3002A>G (p.Tyr1001Cys) rs1839124423
NM_000264.5(PTCH1):c.3003T>A (p.Tyr1001Ter) rs1060502298
NM_000264.5(PTCH1):c.3003T>C (p.Tyr1001=) rs1060502298
NM_000264.5(PTCH1):c.3009C>T (p.Ser1003=)
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val) rs864622620
NM_000264.5(PTCH1):c.3010C>T (p.Leu1004=)
NM_000264.5(PTCH1):c.3011T>G (p.Leu1004Arg) rs1564019538
NM_000264.5(PTCH1):c.3014G>A (p.Gly1005Glu) rs1839122259
NM_000264.5(PTCH1):c.3014G>T (p.Gly1005Val)
NM_000264.5(PTCH1):c.3017T>C (p.Leu1006Pro) rs1839121774
NM_000264.5(PTCH1):c.3018G>A (p.Leu1006=) rs863224350
NM_000264.5(PTCH1):c.3018G>C (p.Leu1006=) rs863224350
NM_000264.5(PTCH1):c.3021_3022del (p.Ser1008fs)
NM_000264.5(PTCH1):c.3023G>A (p.Ser1008Asn) rs1286123273
NM_000264.5(PTCH1):c.3023G>T (p.Ser1008Ile) rs1286123273
NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter) rs747234651
NM_000264.5(PTCH1):c.3027_3030del (p.Ser1008_Tyr1009insTer) rs2136661234
NM_000264.5(PTCH1):c.3030del (p.Asn1011fs) rs2136661215
NM_000264.5(PTCH1):c.3032del (p.Asn1011fs)
NM_000264.5(PTCH1):c.3037dup (p.Tyr1013fs)
NM_000264.5(PTCH1):c.3038A>G (p.Tyr1013Cys)
NM_000264.5(PTCH1):c.3039C>A (p.Tyr1013Ter) rs779388970
NM_000264.5(PTCH1):c.303C>T (p.Phe101=) rs1425771551
NM_000264.5(PTCH1):c.3040C>G (p.Pro1014Ala) rs1588540255
NM_000264.5(PTCH1):c.3040C>T (p.Pro1014Ser) rs1588540255
NM_000264.5(PTCH1):c.3042C>T (p.Pro1014=) rs757821035
NM_000264.5(PTCH1):c.3042del (p.Phe1015fs) rs886039540
NM_000264.5(PTCH1):c.3045C>T (p.Phe1015=) rs1404182043
NM_000264.5(PTCH1):c.3046C>T (p.Leu1016Phe) rs374575067
NM_000264.5(PTCH1):c.3048C>G (p.Leu1016=) rs1165046037
NM_000264.5(PTCH1):c.3051_3053del (p.Phe1017_Trp1018delinsLeu)
NM_000264.5(PTCH1):c.3052T>G (p.Trp1018Gly)
NM_000264.5(PTCH1):c.3053G>A (p.Trp1018Ter) rs2136660954
NM_000264.5(PTCH1):c.3054G>A (p.Trp1018Ter) rs1839115028
NM_000264.5(PTCH1):c.3055G>T (p.Glu1019Ter) rs2136660921
NM_000264.5(PTCH1):c.3058C>T (p.Gln1020Ter) rs1839114207
NM_000264.5(PTCH1):c.3059_3062dup (p.Tyr1021Ter) rs1839113498
NM_000264.5(PTCH1):c.3059_3082del (p.Gln1020_Trp1027del) rs2136660602
NM_000264.5(PTCH1):c.3059_3088del (p.Gln1020_Leu1029del) rs1839107392
NM_000264.5(PTCH1):c.3063C>T (p.Tyr1021=) rs777191105
NM_000264.5(PTCH1):c.3064A>C (p.Ile1022Leu) rs1003711941
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val) rs1003711941
NM_000264.5(PTCH1):c.3067G>T (p.Gly1023Cys) rs752317944
NM_000264.5(PTCH1):c.3068G>C (p.Gly1023Ala) rs1588540060
NM_000264.5(PTCH1):c.3069C>A (p.Gly1023=) rs767289081
NM_000264.5(PTCH1):c.3069C>G (p.Gly1023=) rs767289081
NM_000264.5(PTCH1):c.3072C>T (p.Leu1024=) rs1588539992
NM_000264.5(PTCH1):c.3073C>T (p.Arg1025Cys) rs1839109856
NM_000264.5(PTCH1):c.3077A>G (p.His1026Arg) rs763031827
NM_000264.5(PTCH1):c.3078C>A (p.His1026Gln) rs2136660617
NM_000264.5(PTCH1):c.307G>C (p.Val103Leu)
NM_000264.5(PTCH1):c.3085C>T (p.Leu1029=) rs776739985
NM_000264.5(PTCH1):c.3087G>A (p.Leu1029=) rs2136660541
NM_000264.5(PTCH1):c.3088_3099delinsAACACCAA (p.Leu1030fs) rs1839104595
NM_000264.5(PTCH1):c.3088_3099delinsTTGGTGTT (p.Phe1031fs) rs1839104595
NM_000264.5(PTCH1):c.3096C>T (p.Ile1032=) rs1839105109
NM_000264.5(PTCH1):c.30C>T (p.Pro10=) rs1179684017
NM_000264.5(PTCH1):c.3103G>T (p.Val1035Leu) rs1839103824
NM_000264.5(PTCH1):c.3105G>A (p.Val1035=) rs2136660293
NM_000264.5(PTCH1):c.3105G>T (p.Val1035=)
NM_000264.5(PTCH1):c.3111C>G (p.Ala1037=) rs1009386754
NM_000264.5(PTCH1):c.3112T>C (p.Cys1038Arg) rs2136660230
NM_000264.5(PTCH1):c.3113G>A (p.Cys1038Tyr)
NM_000264.5(PTCH1):c.3114C>T (p.Cys1038=) rs1303636474
NM_000264.5(PTCH1):c.3116C>T (p.Thr1039Ile) rs2136660189
NM_000264.5(PTCH1):c.3123C>A (p.Leu1041=) rs1554691356
NM_000264.5(PTCH1):c.3123C>T (p.Leu1041=) rs1554691356
NM_000264.5(PTCH1):c.3125T>C (p.Val1042Ala) rs1839101189
NM_000264.5(PTCH1):c.3125T>G (p.Val1042Gly)
NM_000264.5(PTCH1):c.3125dup (p.Cys1043fs) rs1554691354
NM_000264.5(PTCH1):c.3126G>A (p.Val1042=)
NM_000264.5(PTCH1):c.3127T>G (p.Cys1043Gly)
NM_000264.5(PTCH1):c.3129dup (p.Ala1044fs)
NM_000264.5(PTCH1):c.312G>A (p.Val104=)
NM_000264.5(PTCH1):c.3130G>A (p.Ala1044Thr) rs138458710
NM_000264.5(PTCH1):c.3133G>C (p.Val1045Leu)
NM_000264.5(PTCH1):c.3136T>A (p.Phe1046Ile) rs1564019097
NM_000264.5(PTCH1):c.3137T>G (p.Phe1046Cys) rs1839099591
NM_000264.5(PTCH1):c.3138C>A (p.Phe1046Leu)
NM_000264.5(PTCH1):c.3139C>A (p.Leu1047Ile) rs1053698119
NM_000264.5(PTCH1):c.3139_3142del (p.Phe1046_Leu1047insTer) rs1131690980
NM_000264.5(PTCH1):c.3139del (p.Leu1047fs) rs2136659959
NM_000264.5(PTCH1):c.3147C>G (p.Asn1049Lys) rs1588539644
NM_000264.5(PTCH1):c.3150del (p.Trp1051fs) rs1588539623
NM_000264.5(PTCH1):c.3151T>G (p.Trp1051Gly) rs1564019039
NM_000264.5(PTCH1):c.3151del (p.Trp1051fs)
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter) rs1060502301
NM_000264.5(PTCH1):c.3153G>A (p.Trp1051Ter)
NM_000264.5(PTCH1):c.315C>G (p.Gly105=) rs1060504542
NM_000264.5(PTCH1):c.3160G>A (p.Gly1054Arg) rs2136659721
NM_000264.5(PTCH1):c.3160_3161insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (p.Gly1054delinsAlaLeuSerSerCysTer)
NM_000264.5(PTCH1):c.3161G>A (p.Gly1054Glu)
NM_000264.5(PTCH1):c.3162G>A (p.Gly1054=) rs1588539563
NM_000264.5(PTCH1):c.3162G>T (p.Gly1054=) rs1588539563
NM_000264.5(PTCH1):c.3168+11dup
NM_000264.5(PTCH1):c.3168+12A>T
NM_000264.5(PTCH1):c.3168+13T>C
NM_000264.5(PTCH1):c.3168+19G>A
NM_000264.5(PTCH1):c.3168+1G>T rs2136659660
NM_000264.5(PTCH1):c.3168+20C>T
NM_000264.5(PTCH1):c.3168+2T>C rs786204056
NM_000264.5(PTCH1):c.3168+5G>A rs1588539525
NM_000264.5(PTCH1):c.3168+6T>A rs1839094345
NM_000264.5(PTCH1):c.3169-10C>A
NM_000264.5(PTCH1):c.3169-12G>T
NM_000264.5(PTCH1):c.3169-14G>A rs2136650773
NM_000264.5(PTCH1):c.3169-15T>C
NM_000264.5(PTCH1):c.3169-16G>A
NM_000264.5(PTCH1):c.3169-17T>C
NM_000264.5(PTCH1):c.3169-18C>G
NM_000264.5(PTCH1):c.3169-18C>T
NM_000264.5(PTCH1):c.3169-19A>G
NM_000264.5(PTCH1):c.3169-1G>A rs1060502285
NM_000264.5(PTCH1):c.3169-20C>A rs780801234
NM_000264.5(PTCH1):c.3169-4C>G
NM_000264.5(PTCH1):c.3169-6C>T rs1588536035
NM_000264.5(PTCH1):c.3169-7G>A rs1588536043
NM_000264.5(PTCH1):c.3169-7G>C rs1588536043
NM_000264.5(PTCH1):c.3169G>A (p.Val1057Met) rs1838934517
NM_000264.5(PTCH1):c.3171G>T (p.Val1057=) rs2136650471
NM_000264.5(PTCH1):c.3173T>C (p.Met1058Thr)
NM_000264.5(PTCH1):c.317T>G (p.Leu106Arg) rs1131690998
NM_000264.5(PTCH1):c.3180G>T (p.Leu1060=) rs757268536
NM_000264.5(PTCH1):c.3181G>A (p.Ala1061Thr) rs767617256
NM_000264.5(PTCH1):c.3182C>T (p.Ala1061Val) rs1409913416
NM_000264.5(PTCH1):c.3184_3185del (p.Leu1062fs) rs2136650202
NM_000264.5(PTCH1):c.318_334del (p.Leu107fs) rs2118876177
NM_000264.5(PTCH1):c.3190A>G (p.Thr1064Ala) rs1838931276
NM_000264.5(PTCH1):c.3195C>G (p.Val1065=) rs370936145
NM_000264.5(PTCH1):c.3196G>T (p.Glu1066Ter) rs1838929775
NM_000264.5(PTCH1):c.3199C>T (p.Leu1067=) rs2136649847
NM_000264.5(PTCH1):c.319C>T (p.Leu107Phe) rs2118876683
NM_000264.5(PTCH1):c.31C>A (p.Gln11Lys)
NM_000264.5(PTCH1):c.3201G>A (p.Leu1067=)
NM_000264.5(PTCH1):c.3201del (p.Phe1068fs)
NM_000264.5(PTCH1):c.3204C>A (p.Phe1068Leu) rs762419846
NM_000264.5(PTCH1):c.3204C>G (p.Phe1068Leu) rs762419846
NM_000264.5(PTCH1):c.3204C>T (p.Phe1068=) rs762419846
NM_000264.5(PTCH1):c.3205G>A (p.Gly1069Ser) rs2136649648
NM_000264.5(PTCH1):c.3206G>T (p.Gly1069Val) rs1588535858
NM_000264.5(PTCH1):c.3208A>G (p.Met1070Val) rs768302786
NM_000264.5(PTCH1):c.3209T>G (p.Met1070Arg) rs2136649542
NM_000264.5(PTCH1):c.3210G>A (p.Met1070Ile)
NM_000264.5(PTCH1):c.3216C>G (p.Gly1072=) rs2136649380
NM_000264.5(PTCH1):c.321C>T (p.Leu107=)
NM_000264.5(PTCH1):c.3221T>C (p.Ile1074Thr)
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg) rs1838926237
NM_000264.5(PTCH1):c.3223G>T (p.Gly1075Ter)
NM_000264.5(PTCH1):c.3224G>T (p.Gly1075Val)
NM_000264.5(PTCH1):c.3225A>T (p.Gly1075=) rs757101018
NM_000264.5(PTCH1):c.3231G>A (p.Lys1077=)
NM_000264.5(PTCH1):c.3232C>T (p.Leu1078Phe)
NM_000264.5(PTCH1):c.3233T>C (p.Leu1078Pro) rs1554691033
NM_000264.5(PTCH1):c.3237T>A (p.Ser1079Arg) rs1838925156
NM_000264.5(PTCH1):c.3237T>C (p.Ser1079=) rs1838925156
NM_000264.5(PTCH1):c.323T>C (p.Ile108Thr) rs2118876529
NM_000264.5(PTCH1):c.3240C>A (p.Ala1080=)
NM_000264.5(PTCH1):c.3241_3245del (p.Val1081fs)
NM_000264.5(PTCH1):c.3241_3245dup (p.Val1083fs) rs2136648673
NM_000264.5(PTCH1):c.3243G>A (p.Val1081=) rs763288802
NM_000264.5(PTCH1):c.3245C>A (p.Pro1082His) rs2136648648
NM_000264.5(PTCH1):c.3245C>G (p.Pro1082Arg)
NM_000264.5(PTCH1):c.3249G>T (p.Val1083=)
NM_000264.5(PTCH1):c.324_325del (p.Phe109fs) rs2118876450
NM_000264.5(PTCH1):c.3250G>T (p.Val1084Phe) rs1838922991
NM_000264.5(PTCH1):c.3252C>G (p.Val1084=) rs201094264
NM_000264.5(PTCH1):c.3255C>G (p.Ile1085Met)
NM_000264.5(PTCH1):c.3255C>T (p.Ile1085=)
NM_000264.5(PTCH1):c.3256C>A (p.Leu1086Met)
NM_000264.5(PTCH1):c.3256C>G (p.Leu1086Val) rs777291938
NM_000264.5(PTCH1):c.3256C>T (p.Leu1086=)
NM_000264.5(PTCH1):c.3259A>G (p.Ile1087Val) rs2136648402
NM_000264.5(PTCH1):c.325T>C (p.Phe109Leu) rs1843655328
NM_000264.5(PTCH1):c.3261C>A (p.Ile1087=) rs768215021
NM_000264.5(PTCH1):c.3263C>T (p.Ala1088Val) rs1838920838
NM_000264.5(PTCH1):c.3264T>C (p.Ala1088=) rs1361137530
NM_000264.5(PTCH1):c.3268G>T (p.Val1090Phe)
NM_000264.5(PTCH1):c.326T>C (p.Phe109Ser) rs1587693269
NM_000264.5(PTCH1):c.326T>G (p.Phe109Cys) rs1587693269
NM_000264.5(PTCH1):c.3270T>C (p.Val1090=)
NM_000264.5(PTCH1):c.3273del (p.Gly1091_Ile1092insTer)
NM_000264.5(PTCH1):c.3274A>G (p.Ile1092Val) rs2136647902
NM_000264.5(PTCH1):c.3275T>C (p.Ile1092Thr)
NM_000264.5(PTCH1):c.3276A>G (p.Ile1092Met) rs1227312736
NM_000264.5(PTCH1):c.3277G>A (p.Gly1093Arg) rs2136647822
NM_000264.5(PTCH1):c.327T>C (p.Phe109=) rs2118876372
NM_000264.5(PTCH1):c.3280G>A (p.Val1094Met) rs1588535447
NM_000264.5(PTCH1):c.3281_3282dup (p.Glu1095fs) rs1588535437
NM_000264.5(PTCH1):c.3283G>C (p.Glu1095Gln) rs1588535427
NM_000264.5(PTCH1):c.3283G>T (p.Glu1095Ter)
NM_000264.5(PTCH1):c.3287dup (p.Thr1097fs) rs1588535416
NM_000264.5(PTCH1):c.3288C>G (p.Phe1096Leu) rs745563970
NM_000264.5(PTCH1):c.3289A>G (p.Thr1097Ala)
NM_000264.5(PTCH1):c.328G>C (p.Gly110Arg) rs1843654942
NM_000264.5(PTCH1):c.3300T>G (p.Val1100=)
NM_000264.5(PTCH1):c.3304T>C (p.Leu1102=)
NM_000264.5(PTCH1):c.3304T>G (p.Leu1102Val) rs1554690984
NM_000264.5(PTCH1):c.3306+11C>A rs1375317234
NM_000264.5(PTCH1):c.3306+11C>T
NM_000264.5(PTCH1):c.3306+12A>G
NM_000264.5(PTCH1):c.3306+15T>C
NM_000264.5(PTCH1):c.3306+16G>A rs780151010
NM_000264.5(PTCH1):c.3306+20C>G
NM_000264.5(PTCH1):c.3306+20C>T
NM_000264.5(PTCH1):c.3306+2T>C
NM_000264.5(PTCH1):c.3306+5G>A rs587780701
NM_000264.5(PTCH1):c.3306+6G>A rs777678813
NM_000264.5(PTCH1):c.3306+6G>T rs777678813
NM_000264.5(PTCH1):c.3306+7G>A rs1382563617
NM_000264.5(PTCH1):c.3306G>A (p.Leu1102=) rs1564017035
NM_000264.5(PTCH1):c.3307-115_3339del rs1838664702
NM_000264.5(PTCH1):c.3307-12C>T
NM_000264.5(PTCH1):c.3307-13C>T
NM_000264.5(PTCH1):c.3307-17A>G
NM_000264.5(PTCH1):c.3307-18A>G
NM_000264.5(PTCH1):c.3307-1G>A rs2136632449
NM_000264.5(PTCH1):c.3307-3C>T
NM_000264.5(PTCH1):c.3307-4A>C rs1554690494
NM_000264.5(PTCH1):c.3307-6G>A
NM_000264.5(PTCH1):c.3307-6G>T
NM_000264.5(PTCH1):c.3307-7T>C rs878853855
NM_000264.5(PTCH1):c.3307-8T>C
NM_000264.5(PTCH1):c.3307G>T (p.Ala1103Ser) rs1838668785
NM_000264.5(PTCH1):c.330G>A (p.Gly110=)
NM_000264.5(PTCH1):c.3312T>A (p.Phe1104Leu) rs1554690489
NM_000264.5(PTCH1):c.3312T>C (p.Phe1104=)
NM_000264.5(PTCH1):c.3318G>A (p.Thr1106=) rs942699337
NM_000264.5(PTCH1):c.331G>A (p.Ala111Thr) rs777897973
NM_000264.5(PTCH1):c.331del (p.Ala111fs)
NM_000264.5(PTCH1):c.3324C>T (p.Ile1108=) rs748117539
NM_000264.5(PTCH1):c.3328G>A (p.Asp1110Asn) rs911494100
NM_000264.5(PTCH1):c.3328G>C (p.Asp1110His) rs911494100
NM_000264.5(PTCH1):c.3328G>T (p.Asp1110Tyr) rs911494100
NM_000264.5(PTCH1):c.332C>G (p.Ala111Gly)
NM_000264.5(PTCH1):c.3332A>G (p.Lys1111Arg) rs2136632174
NM_000264.5(PTCH1):c.3333del (p.Asn1112fs) rs2136632164
NM_000264.5(PTCH1):c.3336C>A (p.Asn1112Lys)
NM_000264.5(PTCH1):c.3336C>T (p.Asn1112=)
NM_000264.5(PTCH1):c.3338G>T (p.Arg1113Leu)
NM_000264.5(PTCH1):c.333C>T (p.Ala111=) rs863224351
NM_000264.5(PTCH1):c.3340A>C (p.Arg1114=) rs587776689
NM_000264.5(PTCH1):c.3342G>A (p.Arg1114=)
NM_000264.5(PTCH1):c.3344C>T (p.Ala1115Val) rs779192138
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met) rs201605273
NM_000264.5(PTCH1):c.3346G>C (p.Val1116Leu)
NM_000264.5(PTCH1):c.3346G>T (p.Val1116Leu)
NM_000264.5(PTCH1):c.3349C>G (p.Leu1117Val)
NM_000264.5(PTCH1):c.3352G>T (p.Ala1118Ser)
NM_000264.5(PTCH1):c.3354C>G (p.Ala1118=) rs1554690459
NM_000264.5(PTCH1):c.3357G>A (p.Leu1119=) rs1838662525
NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys) rs1838662287
NM_000264.5(PTCH1):c.3360G>A (p.Glu1120=) rs1554690458
NM_000264.5(PTCH1):c.3362A>G (p.His1121Arg) rs1838661805
NM_000264.5(PTCH1):c.3362A>T (p.His1121Leu) rs1838661805
NM_000264.5(PTCH1):c.3363C>T (p.His1121=)
NM_000264.5(PTCH1):c.3363del (p.His1121fs) rs1838661583
NM_000264.5(PTCH1):c.3364A>G (p.Met1122Val) rs1838661361
NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs) rs1060502273
NM_000264.5(PTCH1):c.3365T>A (p.Met1122Lys) rs929802114
NM_000264.5(PTCH1):c.3365T>C (p.Met1122Thr)
NM_000264.5(PTCH1):c.3369T>C (p.Phe1123=) rs2136631715
NM_000264.5(PTCH1):c.336C>A (p.Phe112Leu)
NM_000264.5(PTCH1):c.3372del (p.Val1126fs)
NM_000264.5(PTCH1):c.3373C>T (p.Pro1125Ser)
NM_000264.5(PTCH1):c.3375C>A (p.Pro1125=) rs369760318
NM_000264.5(PTCH1):c.3376G>T (p.Val1126Phe) rs147025073
NM_000264.5(PTCH1):c.3378C>T (p.Val1126=)
NM_000264.5(PTCH1):c.3379C>T (p.Leu1127=) rs1032072492
NM_000264.5(PTCH1):c.3384del (p.Asp1128fs) rs1838658874
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg) rs1588528637
NM_000264.5(PTCH1):c.3392T>C (p.Val1131Ala)
NM_000264.5(PTCH1):c.3393G>A (p.Val1131=) rs1267662604
NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr) rs878853856
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro) rs878853856
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe) rs1588528503
NM_000264.5(PTCH1):c.3397A>C (p.Thr1133Pro)
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala) rs1131690996
NM_000264.5(PTCH1):c.339G>C (p.Ala113=) rs756224406
NM_000264.5(PTCH1):c.33G>C (p.Gln11His) rs1320203029
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val) rs1838656000
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro) rs1131690989
NM_000264.5(PTCH1):c.3405G>A (p.Leu1135=)
NM_000264.5(PTCH1):c.3406G>A (p.Gly1136Arg) rs1838655420
NM_000264.5(PTCH1):c.3408A>G (p.Gly1136=) rs769601779
NM_000264.5(PTCH1):c.340G>A (p.Val114Met) rs1843653470
NM_000264.5(PTCH1):c.340G>T (p.Val114Leu) rs1843653470
NM_000264.5(PTCH1):c.3412C>G (p.Leu1138Val) rs1838654825
NM_000264.5(PTCH1):c.3412C>T (p.Leu1138=) rs1838654825
NM_000264.5(PTCH1):c.3413T>C (p.Leu1138Pro)
NM_000264.5(PTCH1):c.3420G>A (p.Leu1140=) rs748023135
NM_000264.5(PTCH1):c.3421del (p.Ala1141fs) rs2136631061
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=) rs745948150
NM_000264.5(PTCH1):c.3426A>T (p.Gly1142=)
NM_000264.5(PTCH1):c.3428_3429del (p.Gly1142_Ser1143insTer) rs1554690411
NM_000264.5(PTCH1):c.3429T>A (p.Ser1143=) rs778900289
NM_000264.5(PTCH1):c.3432G>A (p.Glu1144=) rs2136630962
NM_000264.5(PTCH1):c.3441_3444del (p.Phe1147fs) rs2136630846
NM_000264.5(PTCH1):c.3444T>C (p.Ile1148=) rs1439411173
NM_000264.5(PTCH1):c.3444T>G (p.Ile1148Met) rs1439411173
NM_000264.5(PTCH1):c.3446T>A (p.Val1149Asp)
NM_000264.5(PTCH1):c.3448A>G (p.Arg1150Gly)
NM_000264.5(PTCH1):c.3449+11G>C
NM_000264.5(PTCH1):c.3449+13G>T
NM_000264.5(PTCH1):c.3449+16C>T rs1838648315
NM_000264.5(PTCH1):c.3449+17A>C
NM_000264.5(PTCH1):c.3449+1G>A rs863224442
NM_000264.5(PTCH1):c.3449+3A>G rs201942643
NM_000264.5(PTCH1):c.3449+6C>T rs2136630772
NM_000264.5(PTCH1):c.3449+8G>A rs2136630748
NM_000264.5(PTCH1):c.3449+9G>A rs1554690376
NM_000264.5(PTCH1):c.3449G>A (p.Arg1150Lys)
NM_000264.5(PTCH1):c.344G>A (p.Gly115Glu) rs544052043
NM_000264.5(PTCH1):c.344G>T (p.Gly115Val) rs544052043
NM_000264.5(PTCH1):c.3450-13C>G rs2136608603
NM_000264.5(PTCH1):c.3450-14T>A
NM_000264.5(PTCH1):c.3450-16C>T
NM_000264.5(PTCH1):c.3450-17T>G
NM_000264.5(PTCH1):c.3450-1G>A rs1403732379
NM_000264.5(PTCH1):c.3450-1G>C rs1403732379
NM_000264.5(PTCH1):c.3450-20G>C
NM_000264.5(PTCH1):c.3450-2A>C rs863224443
NM_000264.5(PTCH1):c.3450-2A>G rs863224443
NM_000264.5(PTCH1):c.3450-2_3483del rs1588519463
NM_000264.5(PTCH1):c.3450-5C>T rs2136608556
NM_000264.5(PTCH1):c.3450-8T>C rs1045599342
NM_000264.5(PTCH1):c.3456C>T (p.Phe1152=) rs2136608496
NM_000264.5(PTCH1):c.3460G>A (p.Ala1154Thr) rs878853857
NM_000264.5(PTCH1):c.3460G>C (p.Ala1154Pro) rs878853857
NM_000264.5(PTCH1):c.3460del (p.Ala1154fs) rs1060502264
NM_000264.5(PTCH1):c.3461C>G (p.Ala1154Gly) rs1838315753
NM_000264.5(PTCH1):c.3462_3464del (p.Val1155del)
NM_000264.5(PTCH1):c.3463G>A (p.Val1155Met) rs1588519562
NM_000264.5(PTCH1):c.3463G>C (p.Val1155Leu)
NM_000264.5(PTCH1):c.3463G>T (p.Val1155Leu) rs1588519562
NM_000264.5(PTCH1):c.3466C>G (p.Leu1156Val) rs1838315273
NM_000264.5(PTCH1):c.3467T>G (p.Leu1156Arg) rs1838315058
NM_000264.5(PTCH1):c.3471G>A (p.Ala1157=) rs950019214
NM_000264.5(PTCH1):c.3472A>T (p.Ile1158Phe) rs368636457
NM_000264.5(PTCH1):c.3476T>C (p.Leu1159Pro) rs1588519508
NM_000264.5(PTCH1):c.3478_3486del (p.Thr1160_Leu1162del) rs1838312038
NM_000264.5(PTCH1):c.3478_3486dup (p.Thr1160_Leu1162dup) rs1838312038
NM_000264.5(PTCH1):c.347T>A (p.Leu116Ter) rs1843652409
NM_000264.5(PTCH1):c.347T>G (p.Leu116Ter) rs1843652409
NM_000264.5(PTCH1):c.3481A>G (p.Ile1161Val) rs202102540
NM_000264.5(PTCH1):c.3483C>A (p.Ile1161=) rs761421461
NM_000264.5(PTCH1):c.3483C>T (p.Ile1161=)
NM_000264.5(PTCH1):c.3484C>T (p.Leu1162Phe) rs2136608105
NM_000264.5(PTCH1):c.3486C>T (p.Leu1162=) rs1554689696
NM_000264.5(PTCH1):c.3487G>C (p.Gly1163Arg) rs113663584
NM_000264.5(PTCH1):c.3488G>T (p.Gly1163Val) rs864622120
NM_000264.5(PTCH1):c.3488del (p.Gly1163fs) rs1564009755
NM_000264.5(PTCH1):c.3489C>T (p.Gly1163=) rs2136607957
NM_000264.5(PTCH1):c.3497A>G (p.Asn1166Ser) rs1271099813
NM_000264.5(PTCH1):c.3497_3498del (p.Asn1166fs) rs2136607887
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg) rs1131690985
NM_000264.5(PTCH1):c.349A>T (p.Lys117Ter) rs2118875526
NM_000264.5(PTCH1):c.3501G>T (p.Gly1167=)
NM_000264.5(PTCH1):c.3504G>A (p.Leu1168=) rs1838309835
NM_000264.5(PTCH1):c.3509T>G (p.Leu1170Trp)
NM_000264.5(PTCH1):c.350A>G (p.Lys117Arg) rs1234085004
NM_000264.5(PTCH1):c.3511C>T (p.Leu1171Phe) rs1838309603
NM_000264.5(PTCH1):c.3512T>G (p.Leu1171Arg)
NM_000264.5(PTCH1):c.3513T>C (p.Leu1171=) rs2136607744
NM_000264.5(PTCH1):c.3514_3522del (p.Pro1172_Leu1174del) rs1838308465
NM_000264.5(PTCH1):c.3516del (p.Val1173fs)
NM_000264.5(PTCH1):c.3517G>A (p.Val1173Met) rs1588519372
NM_000264.5(PTCH1):c.3518T>C (p.Val1173Ala)
NM_000264.5(PTCH1):c.351AGC[1] (p.Ala119del)
NM_000264.5(PTCH1):c.351del (p.Ala118fs) rs2118875429
NM_000264.5(PTCH1):c.351dup (p.Ala118fs) rs2118875429
NM_000264.5(PTCH1):c.3525G>A (p.Leu1175=)
NM_000264.5(PTCH1):c.3525_3529del (p.Leu1175fs) rs1838307047
NM_000264.5(PTCH1):c.3527C>G (p.Ser1176Cys) rs864622160
NM_000264.5(PTCH1):c.352G>C (p.Ala118Pro)
NM_000264.5(PTCH1):c.3530del (p.Phe1177fs) rs2136607614
NM_000264.5(PTCH1):c.3531_3534del (p.Phe1177fs) rs1838305772
NM_000264.5(PTCH1):c.3538C>G (p.Pro1180Ala) rs1314555601
NM_000264.5(PTCH1):c.3539C>T (p.Pro1180Leu)
NM_000264.5(PTCH1):c.3540A>C (p.Pro1180=) rs930364103
NM_000264.5(PTCH1):c.3540_3543delinsTCC (p.Tyr1181fs) rs1554689667
NM_000264.5(PTCH1):c.3544C>G (p.Pro1182Ala) rs1259037941
NM_000264.5(PTCH1):c.3544C>T (p.Pro1182Ser) rs1259037941
NM_000264.5(PTCH1):c.3549+10G>C rs587780703
NM_000264.5(PTCH1):c.3549+11A>G
NM_000264.5(PTCH1):c.3549+15G>A rs1444040515
NM_000264.5(PTCH1):c.3549+17G>T
NM_000264.5(PTCH1):c.3549+18G>A
NM_000264.5(PTCH1):c.3549+2T>G rs1838303339
NM_000264.5(PTCH1):c.3549+4A>T
NM_000264.5(PTCH1):c.3549+5G>T rs565899674
NM_000264.5(PTCH1):c.354_363del (p.Ala119fs) rs2118874752
NM_000264.5(PTCH1):c.3550-10C>A rs2136603294
NM_000264.5(PTCH1):c.3550-11C>G
NM_000264.5(PTCH1):c.3550-11C>T
NM_000264.5(PTCH1):c.3550-15A>G rs1337486945
NM_000264.5(PTCH1):c.3550-19A>G rs2136603435
NM_000264.5(PTCH1):c.3550-20C>A rs2136603455
NM_000264.5(PTCH1):c.3550-2A>C rs1838244368
NM_000264.5(PTCH1):c.3550-4A>G rs1838244885
NM_000264.5(PTCH1):c.3550-4dup
NM_000264.5(PTCH1):c.3550-9C>G rs1410226185
NM_000264.5(PTCH1):c.3550-9C>T rs1410226185
NM_000264.5(PTCH1):c.3550G>A (p.Val1184Met)
NM_000264.5(PTCH1):c.3550del rs1838244110
NM_000264.5(PTCH1):c.3552G>A (p.Val1184=) rs2136603020
NM_000264.5(PTCH1):c.3552G>T (p.Val1184=) rs2136603020
NM_000264.5(PTCH1):c.3555T>C (p.Ser1185=) rs1398908173
NM_000264.5(PTCH1):c.3555T>G (p.Ser1185=) rs1398908173
NM_000264.5(PTCH1):c.3556C>T (p.Pro1186Ser)
NM_000264.5(PTCH1):c.3557C>T (p.Pro1186Leu) rs1838242467
NM_000264.5(PTCH1):c.3559G>A (p.Ala1187Thr) rs1838241713
NM_000264.5(PTCH1):c.355G>A (p.Ala119Thr)
NM_000264.5(PTCH1):c.3562A>G (p.Asn1188Asp) rs1319757275
NM_000264.5(PTCH1):c.3564C>A (p.Asn1188Lys) rs864622621
NM_000264.5(PTCH1):c.3565G>C (p.Gly1189Arg) rs767535853
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys) rs767535853
NM_000264.5(PTCH1):c.3575G>T (p.Arg1192Leu) rs762040036
NM_000264.5(PTCH1):c.357G>T (p.Ala119=)
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg) rs1838236724
NM_000264.5(PTCH1):c.3582C>G (p.Pro1194=)
NM_000264.5(PTCH1):c.3582C>T (p.Pro1194=)
NM_000264.5(PTCH1):c.3584C>T (p.Thr1195Ile) rs1588517836
NM_000264.5(PTCH1):c.3586C>T (p.Pro1196Ser) rs1588517811
NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=)
NM_000264.5(PTCH1):c.358A>C (p.Asn120His)
NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys) rs1588517764
NM_000264.5(PTCH1):c.3593C>G (p.Pro1198Arg) rs1564008924
NM_000264.5(PTCH1):c.3593C>T (p.Pro1198Leu)
NM_000264.5(PTCH1):c.3595G>A (p.Glu1199Lys)
NM_000264.5(PTCH1):c.3597G>A (p.Glu1199=) rs2136601860
NM_000264.5(PTCH1):c.3600A>C (p.Pro1200=) rs1588517717
NM_000264.5(PTCH1):c.3601C>T (p.Pro1201Ser) rs1838233287
NM_000264.5(PTCH1):c.3602C>A (p.Pro1201His) rs1838233041
NM_000264.5(PTCH1):c.3603C>G (p.Pro1201=)
NM_000264.5(PTCH1):c.3603C>T (p.Pro1201=)
NM_000264.5(PTCH1):c.3604C>T (p.Pro1202Ser) rs1384935549
NM_000264.5(PTCH1):c.3605C>A (p.Pro1202His)
NM_000264.5(PTCH1):c.3605_3606insG (p.Ser1203fs) rs2136601667
NM_000264.5(PTCH1):c.3606C>A (p.Pro1202=) rs138240178
NM_000264.5(PTCH1):c.3606C>G (p.Pro1202=) rs138240178
NM_000264.5(PTCH1):c.3606dup (p.Ser1203fs)
NM_000264.5(PTCH1):c.3608dup (p.Ser1203fs)
NM_000264.5(PTCH1):c.3609C>T (p.Ser1203=) rs200843188
NM_000264.5(PTCH1):c.360C>A (p.Asn120Lys) rs1327411160
NM_000264.5(PTCH1):c.360C>G (p.Asn120Lys) rs1327411160
NM_000264.5(PTCH1):c.360C>T (p.Asn120=)
NM_000264.5(PTCH1):c.3612G>A (p.Val1204=) rs2136601481
NM_000264.5(PTCH1):c.3614T>A (p.Val1205Asp) rs775882469
NM_000264.5(PTCH1):c.3614T>G (p.Val1205Gly)
NM_000264.5(PTCH1):c.3615C>T (p.Val1205=)
NM_000264.5(PTCH1):c.3618C>T (p.Arg1206=)
NM_000264.5(PTCH1):c.361C>G (p.Leu121Val) rs776424978
NM_000264.5(PTCH1):c.361C>T (p.Leu121Phe) rs776424978
NM_000264.5(PTCH1):c.3622G>T (p.Ala1208Ser) rs945517672
NM_000264.5(PTCH1):c.3623C>A (p.Ala1208Asp) rs914090288
NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3625A>G (p.Met1209Val)
NM_000264.5(PTCH1):c.3627G>A (p.Met1209Ile) rs1838227370
NM_000264.5(PTCH1):c.3628C>T (p.Pro1210Ser)
NM_000264.5(PTCH1):c.3630G>A (p.Pro1210=) rs926583525
NM_000264.5(PTCH1):c.3630G>T (p.Pro1210=) rs926583525
NM_000264.5(PTCH1):c.3633C>T (p.Pro1211=) rs56007343
NM_000264.5(PTCH1):c.3633del (p.Gly1212fs) rs2136600953
NM_000264.5(PTCH1):c.363C>G (p.Leu121=)
NM_000264.5(PTCH1):c.363C>T (p.Leu121=)
NM_000264.5(PTCH1):c.3640A>G (p.Thr1214Ala) rs1564008713
NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn) rs1554689404
NM_000264.5(PTCH1):c.3647del (p.Ser1216fs)
NM_000264.5(PTCH1):c.3648C>A (p.Ser1216Arg) rs377608291
NM_000264.5(PTCH1):c.3649G>T (p.Gly1217Trp) rs768986314
NM_000264.5(PTCH1):c.364G>A (p.Glu122Lys) rs374150356
NM_000264.5(PTCH1):c.3650G>A (p.Gly1217Glu)
NM_000264.5(PTCH1):c.3650G>C (p.Gly1217Ala)
NM_000264.5(PTCH1):c.3651G>A (p.Gly1217=)
NM_000264.5(PTCH1):c.3651G>C (p.Gly1217=) rs1432605045
NM_000264.5(PTCH1):c.3652T>G (p.Ser1218Ala) rs1838222745
NM_000264.5(PTCH1):c.3653C>G (p.Ser1218Cys) rs1167693193
NM_000264.5(PTCH1):c.3654T>C (p.Ser1218=) rs2136600344
NM_000264.5(PTCH1):c.3656A>T (p.Asp1219Val) rs2136600284
NM_000264.5(PTCH1):c.3659C>G (p.Ser1220Cys) rs1375226181
NM_000264.5(PTCH1):c.3659C>T (p.Ser1220Phe) rs1375226181
NM_000264.5(PTCH1):c.365A>C (p.Glu122Ala) rs1843650243
NM_000264.5(PTCH1):c.3660C>T (p.Ser1220=) rs1171930911
NM_000264.5(PTCH1):c.3661T>A (p.Ser1221Thr)
NM_000264.5(PTCH1):c.3661T>C (p.Ser1221Pro)
NM_000264.5(PTCH1):c.3662C>T (p.Ser1221Phe) rs1838221565
NM_000264.5(PTCH1):c.3663C>G (p.Ser1221=) rs369771223
NM_000264.5(PTCH1):c.3663C>T (p.Ser1221=) rs369771223
NM_000264.5(PTCH1):c.3666C>T (p.Asp1222=) rs777377921
NM_000264.5(PTCH1):c.3667T>G (p.Ser1223Ala)
NM_000264.5(PTCH1):c.366G>A (p.Glu122=) rs1479871006
NM_000264.5(PTCH1):c.366G>C (p.Glu122Asp) rs1479871006
NM_000264.5(PTCH1):c.3670G>C (p.Glu1224Gln)
NM_000264.5(PTCH1):c.3672G>A (p.Glu1224=)
NM_000264.5(PTCH1):c.3672G>C (p.Glu1224Asp)
NM_000264.5(PTCH1):c.3674A>G (p.Tyr1225Cys) rs2136599880
NM_000264.5(PTCH1):c.3675T>A (p.Tyr1225Ter) rs1588517196
NM_000264.5(PTCH1):c.3675T>C (p.Tyr1225=) rs1588517196
NM_000264.5(PTCH1):c.3678T>C (p.Ser1226=) rs1588517173
NM_000264.5(PTCH1):c.3681C>A (p.Ser1227=)
NM_000264.5(PTCH1):c.3683A>G (p.Gln1228Arg) rs1838218958
NM_000264.5(PTCH1):c.3684G>A (p.Gln1228=) rs2136599643
NM_000264.5(PTCH1):c.3685A>T (p.Thr1229Ser) rs1838218744
NM_000264.5(PTCH1):c.368C>T (p.Thr123Ile) rs1843649762
NM_000264.5(PTCH1):c.3690A>G (p.Thr1230=)
NM_000264.5(PTCH1):c.3690A>T (p.Thr1230=)
NM_000264.5(PTCH1):c.3692_3693inv (p.Val1231Ala)
NM_000264.5(PTCH1):c.3693G>C (p.Val1231=)
NM_000264.5(PTCH1):c.3698G>A (p.Gly1233Asp)
NM_000264.5(PTCH1):c.3699C>T (p.Gly1233=)
NM_000264.5(PTCH1):c.369C>G (p.Thr123=)
NM_000264.5(PTCH1):c.36C>A (p.Asp12Glu) rs1057522533
NM_000264.5(PTCH1):c.36C>T (p.Asp12=) rs1057522533
NM_000264.5(PTCH1):c.3701T>C (p.Leu1234Pro) rs1838217335
NM_000264.5(PTCH1):c.3702C>T (p.Leu1234=)
NM_000264.5(PTCH1):c.3705C>A (p.Ser1235Arg) rs1051927200
NM_000264.5(PTCH1):c.3711G>A (p.Glu1237=)
NM_000264.5(PTCH1):c.3716G>C (p.Arg1239Pro) rs758728491
NM_000264.5(PTCH1):c.3717G>A (p.Arg1239=) rs1299281832
NM_000264.5(PTCH1):c.3718C>T (p.His1240Tyr) rs2136598509
NM_000264.5(PTCH1):c.3719A>C (p.His1240Pro)
NM_000264.5(PTCH1):c.3720C>T (p.His1240=)
NM_000264.5(PTCH1):c.3721_3765del (p.Tyr1241_Ile1255del) rs760239449
NM_000264.5(PTCH1):c.3725A>C (p.Glu1242Ala)
NM_000264.5(PTCH1):c.3726G>A (p.Glu1242=)
NM_000264.5(PTCH1):c.3726G>C (p.Glu1242Asp) rs1838214724
NM_000264.5(PTCH1):c.3728C>T (p.Ala1243Val)
NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys) rs763779667
NM_000264.5(PTCH1):c.3731_3749del (p.Gln1244fs) rs2136597743
NM_000264.5(PTCH1):c.3732G>A (p.Gln1244=) rs2136598143
NM_000264.5(PTCH1):c.3732_3755dup (p.Ala1251_His1252insGlnGlnGlyAlaGlyGlyProAla)
NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu) rs1838213882
NM_000264.5(PTCH1):c.373G>A (p.Val125Met) rs760253622
NM_000264.5(PTCH1):c.3740C>G (p.Ala1247Gly) rs1588516924
NM_000264.5(PTCH1):c.3740C>T (p.Ala1247Val) rs1588516924
NM_000264.5(PTCH1):c.3741G>C (p.Ala1247=)
NM_000264.5(PTCH1):c.3742G>A (p.Gly1248Arg) rs2136597903
NM_000264.5(PTCH1):c.3743G>C (p.Gly1248Ala) rs375857496
NM_000264.5(PTCH1):c.3743del (p.Gly1248fs)
NM_000264.5(PTCH1):c.3744A>G (p.Gly1248=)
NM_000264.5(PTCH1):c.3745G>A (p.Gly1249Ser)
NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg) rs769446796
NM_000264.5(PTCH1):c.3747C>T (p.Gly1249=) rs1588516878
NM_000264.5(PTCH1):c.3749C>G (p.Pro1250Arg) rs1838211042
NM_000264.5(PTCH1):c.3754C>G (p.His1252Asp) rs780990429
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)
NM_000264.5(PTCH1):c.3755A>C (p.His1252Pro) rs1838210172
NM_000264.5(PTCH1):c.3755A>G (p.His1252Arg) rs1838210172
NM_000264.5(PTCH1):c.3758A>C (p.Gln1253Pro)
NM_000264.5(PTCH1):c.375G>A (p.Val125=)
NM_000264.5(PTCH1):c.3764T>C (p.Ile1255Thr)
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=) rs758229027
NM_000264.5(PTCH1):c.3765C>G (p.Ile1255Met) rs758229027
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met) rs150850039
NM_000264.5(PTCH1):c.3769G>A (p.Glu1257Lys) rs750397931
NM_000264.5(PTCH1):c.376G>T (p.Glu126Ter) rs2118874002
NM_000264.5(PTCH1):c.3775A>C (p.Thr1259Pro) rs1838207256
NM_000264.5(PTCH1):c.3776C>T (p.Thr1259Ile) rs2136597007
NM_000264.5(PTCH1):c.3779A>G (p.Glu1260Gly)
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser) rs970679518
NM_000264.5(PTCH1):c.3785C>T (p.Pro1262Leu) rs1838206596
NM_000264.5(PTCH1):c.3788T>C (p.Val1263Ala) rs1588516673
NM_000264.5(PTCH1):c.378G>A (p.Glu126=)
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
NM_000264.5(PTCH1):c.3792C>G (p.Phe1264Leu) rs144312968
NM_000264.5(PTCH1):c.3796C>A (p.His1266Asn)
NM_000264.5(PTCH1):c.3796C>T (p.His1266Tyr) rs751826546
NM_000264.5(PTCH1):c.3798C>A (p.His1266Gln)
NM_000264.5(PTCH1):c.379G>T (p.Glu127Ter) rs774822170
NM_000264.5(PTCH1):c.37C>A (p.Arg13Ser)
NM_000264.5(PTCH1):c.37C>T (p.Arg13Cys) rs779791579
NM_000264.5(PTCH1):c.3803C>G (p.Thr1268Ser) rs1554689262
NM_000264.5(PTCH1):c.3804+10T>A rs763314823
NM_000264.5(PTCH1):c.3804+11C>T rs2136596246
NM_000264.5(PTCH1):c.3804+11_3804+12del
NM_000264.5(PTCH1):c.3804+14C>T rs1027523327
NM_000264.5(PTCH1):c.3804+19C>T
NM_000264.5(PTCH1):c.3804+20C>A
NM_000264.5(PTCH1):c.3804+20C>T
NM_000264.5(PTCH1):c.3804+2dup rs1588516590
NM_000264.5(PTCH1):c.3804+3_3804+6del
NM_000264.5(PTCH1):c.3805-12C>A
NM_000264.5(PTCH1):c.3805-14C>T rs771678354
NM_000264.5(PTCH1):c.3805-15C>T
NM_000264.5(PTCH1):c.3805-17A>C
NM_000264.5(PTCH1):c.3805-19C>A
NM_000264.5(PTCH1):c.3805-32_3805-14del rs1838061359
NM_000264.5(PTCH1):c.3805-4G>A rs1060504537
NM_000264.5(PTCH1):c.3805-7T>G
NM_000264.5(PTCH1):c.3805-8C>T rs1056411006
NM_000264.5(PTCH1):c.3805-9C>A rs2236404
NM_000264.5(PTCH1):c.3805-9C>G rs2236404
NM_000264.5(PTCH1):c.3805G>A (p.Val1269Met) rs1838059096
NM_000264.5(PTCH1):c.3805G>T (p.Val1269Leu) rs1838059096
NM_000264.5(PTCH1):c.3807G>C (p.Val1269=) rs1588512522
NM_000264.5(PTCH1):c.3809T>C (p.Val1270Ala) rs1342034180
NM_000264.5(PTCH1):c.3810C>A (p.Val1270=)
NM_000264.5(PTCH1):c.3811C>T (p.His1271Tyr) rs1554688752
NM_000264.5(PTCH1):c.3812A>G (p.His1271Arg) rs1838057444
NM_000264.5(PTCH1):c.3814C>T (p.Pro1272Ser) rs1298467711
NM_000264.5(PTCH1):c.3815C>T (p.Pro1272Leu) rs774167762
NM_000264.5(PTCH1):c.3816C>A (p.Pro1272=) rs369295226
NM_000264.5(PTCH1):c.3818A>C (p.Glu1273Ala)
NM_000264.5(PTCH1):c.381G>A (p.Glu127=) rs1232294231
NM_000264.5(PTCH1):c.381G>C (p.Glu127Asp)
NM_000264.5(PTCH1):c.3822C>T (p.Ser1274=)
NM_000264.5(PTCH1):c.3823A>C (p.Arg1275=) rs1588512429
NM_000264.5(PTCH1):c.3826C>G (p.His1276Asp) rs786204190
NM_000264.5(PTCH1):c.3826C>T (p.His1276Tyr) rs786204190
NM_000264.5(PTCH1):c.3829C>T (p.His1277Tyr) rs1838054298
NM_000264.5(PTCH1):c.3830A>G (p.His1277Arg) rs755092661
NM_000264.5(PTCH1):c.3833C>T (p.Pro1278Leu) rs2136584562
NM_000264.5(PTCH1):c.3835C>T (p.Pro1279Ser) rs1166276004
NM_000264.5(PTCH1):c.3838T>G (p.Ser1280Ala) rs2136584448
NM_000264.5(PTCH1):c.3839C>G (p.Ser1280Trp)
NM_000264.5(PTCH1):c.3840G>T (p.Ser1280=) rs750770371
NM_000264.5(PTCH1):c.3843C>G (p.Asn1281Lys)
NM_000264.5(PTCH1):c.3845C>G (p.Pro1282Arg)
NM_000264.5(PTCH1):c.3850C>T (p.Gln1284Ter) rs1838050037
NM_000264.5(PTCH1):c.3851A>G (p.Gln1284Arg)
NM_000264.5(PTCH1):c.3851AGC[1] (p.Gln1285del)
NM_000264.5(PTCH1):c.3855G>A (p.Gln1285=) rs1319416238
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)
NM_000264.5(PTCH1):c.3857C>A (p.Pro1286His) rs1278213544
NM_000264.5(PTCH1):c.3857C>T (p.Pro1286Leu)
NM_000264.5(PTCH1):c.3858C>G (p.Pro1286=) rs1222530728
NM_000264.5(PTCH1):c.3858C>T (p.Pro1286=) rs1222530728
NM_000264.5(PTCH1):c.3859C>T (p.His1287Tyr) rs1838047745
NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg) rs2118873547
NM_000264.5(PTCH1):c.3860_3907del (p.His1287_Pro1302del) rs1064792957
NM_000264.5(PTCH1):c.3862C>G (p.Leu1288Val) rs1588512171
NM_000264.5(PTCH1):c.3867C>T (p.Asp1289=) rs587780704
NM_000264.5(PTCH1):c.386G>A (p.Trp129Ter) rs2118873472
NM_000264.5(PTCH1):c.3871G>A (p.Gly1291Arg) rs2136583470
NM_000264.5(PTCH1):c.3872G>A (p.Gly1291Glu)
NM_000264.5(PTCH1):c.3873G>A (p.Gly1291=) rs2136583413
NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter) rs1587692888
NM_000264.5(PTCH1):c.3882T>C (p.Pro1294=) rs2136583157
NM_000264.5(PTCH1):c.3883C>T (p.Pro1295Ser) rs1060502275
NM_000264.5(PTCH1):c.3885del (p.Gly1296fs)
NM_000264.5(PTCH1):c.3886G>C (p.Gly1296Arg) rs372828014
NM_000264.5(PTCH1):c.3887G>T (p.Gly1296Val) rs2136583024
NM_000264.5(PTCH1):c.3888A>T (p.Gly1296=)
NM_000264.5(PTCH1):c.3894A>G (p.Gln1298=)
NM_000264.5(PTCH1):c.3896G>A (p.Gly1299Asp) rs773133083
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)
NM_000264.5(PTCH1):c.38G>A (p.Arg13His) rs1843911577
NM_000264.5(PTCH1):c.3900G>A (p.Gln1300=)
NM_000264.5(PTCH1):c.3902A>G (p.Gln1301Arg)
NM_000264.5(PTCH1):c.3903G>A (p.Gln1301=) rs2136582488
NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu) rs780042369
NM_000264.5(PTCH1):c.3906C>T (p.Pro1302=) rs2136582395
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.5(PTCH1):c.3909C>G (p.Arg1303=) rs1458552244
NM_000264.5(PTCH1):c.3910A>G (p.Arg1304Gly)
NM_000264.5(PTCH1):c.3911G>A (p.Arg1304Lys) rs1838039734
NM_000264.5(PTCH1):c.3911G>C (p.Arg1304Thr) rs1838039734
NM_000264.5(PTCH1):c.3912G>A (p.Arg1304=) rs757702954
NM_000264.5(PTCH1):c.3912G>T (p.Arg1304Ser) rs757702954
NM_000264.5(PTCH1):c.3913G>A (p.Asp1305Asn) rs368528885
NM_000264.5(PTCH1):c.3915C>T (p.Asp1305=)
NM_000264.5(PTCH1):c.3916C>T (p.Pro1306Ser) rs1169961504
NM_000264.5(PTCH1):c.3917C>A (p.Pro1306His) rs864622483
NM_000264.5(PTCH1):c.3918C>T (p.Pro1306=)
NM_000264.5(PTCH1):c.3919C>G (p.Pro1307Ala) rs574880967
NM_000264.5(PTCH1):c.391G>A (p.Glu131Lys) rs1321623220
NM_000264.5(PTCH1):c.391G>C (p.Glu131Gln)
NM_000264.5(PTCH1):c.3920C>A (p.Pro1307His) rs181585555
NM_000264.5(PTCH1):c.3920C>T (p.Pro1307Leu) rs181585555
NM_000264.5(PTCH1):c.3921C>A (p.Pro1307=) rs766089412
NM_000264.5(PTCH1):c.3921C>G (p.Pro1307=) rs766089412
NM_000264.5(PTCH1):c.3921C>T (p.Pro1307=) rs766089412
NM_000264.5(PTCH1):c.3921del (p.Arg1308fs)
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs) rs761353734
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser) rs762725821
NM_000264.5(PTCH1):c.3929G>T (p.Gly1310Val) rs773043616
NM_000264.5(PTCH1):c.3930C>G (p.Gly1310=) rs769743412
NM_000264.5(PTCH1):c.3931T>C (p.Leu1311=)
NM_000264.5(PTCH1):c.3933G>A (p.Leu1311=) rs761688859
NM_000264.5(PTCH1):c.3933G>T (p.Leu1311Phe) rs761688859
NM_000264.5(PTCH1):c.3936G>A (p.Trp1312Ter) rs1360926879
NM_000264.5(PTCH1):c.3936G>T (p.Trp1312Cys) rs1360926879
NM_000264.5(PTCH1):c.3939A>G (p.Pro1313=)
NM_000264.5(PTCH1):c.3939A>T (p.Pro1313=)
NM_000264.5(PTCH1):c.394+10C>G rs755119764
NM_000264.5(PTCH1):c.394+13G>C
NM_000264.5(PTCH1):c.394+13_394+30del
NM_000264.5(PTCH1):c.394+14_394+33del rs2118871805
NM_000264.5(PTCH1):c.394+15C>A
NM_000264.5(PTCH1):c.394+15_394+26del rs762616418
NM_000264.5(PTCH1):c.394+15del
NM_000264.5(PTCH1):c.394+16G>C
NM_000264.5(PTCH1):c.394+17C>T
NM_000264.5(PTCH1):c.394+18G>C rs749589611
NM_000264.5(PTCH1):c.394+1G>A rs1131690995
NM_000264.5(PTCH1):c.394+20C>T
NM_000264.5(PTCH1):c.394+24C>T rs561263076
NM_000264.5(PTCH1):c.394+2dup rs1587692814
NM_000264.5(PTCH1):c.394+4A>G
NM_000264.5(PTCH1):c.394+6A>T
NM_000264.5(PTCH1):c.394+8C>G rs1373035322
NM_000264.5(PTCH1):c.394+8C>T
NM_000264.5(PTCH1):c.394+9G>C rs1587692775
NM_000264.5(PTCH1):c.3940C>G (p.Pro1314Ala)
NM_000264.5(PTCH1):c.3941C>A (p.Pro1314His)
NM_000264.5(PTCH1):c.3942C>T (p.Pro1314=) rs1406247800
NM_000264.5(PTCH1):c.3942_3944delinsAGT (p.Pro1315Val) rs2136581220
NM_000264.5(PTCH1):c.3943C>G (p.Pro1315Ala)
NM_000264.5(PTCH1):c.3943_3944delinsTT (p.Pro1315Phe) rs1588511695
NM_000264.5(PTCH1):c.3944C>A (p.Pro1315His) rs357564
NM_000264.5(PTCH1):c.3944C>G (p.Pro1315Arg) rs357564
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.3944_3945insT (p.Tyr1316fs) rs1838031865
NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly) rs1482005246
NM_000264.5(PTCH1):c.395-11A>G rs748299945
NM_000264.5(PTCH1):c.395-11A>T
NM_000264.5(PTCH1):c.395-13A>G
NM_000264.5(PTCH1):c.395-14T>A rs2118552430
NM_000264.5(PTCH1):c.395-15G>A
NM_000264.5(PTCH1):c.395-18C>G
NM_000264.5(PTCH1):c.395-18C>T
NM_000264.5(PTCH1):c.395-5G>C
NM_000264.5(PTCH1):c.395-6T>G rs1162835966
NM_000264.5(PTCH1):c.395-7T>G rs2118551966
NM_000264.5(PTCH1):c.395-8T>C rs755013836
NM_000264.5(PTCH1):c.3951A>C (p.Arg1317Ser) rs1211632031
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg) rs536440590
NM_000264.5(PTCH1):c.3953C>T (p.Pro1318Leu) rs536440590
NM_000264.5(PTCH1):c.3956G>T (p.Arg1319Leu) rs572658914
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=) rs1554688549
NM_000264.5(PTCH1):c.3958A>G (p.Arg1320Gly) rs1838027827
NM_000264.5(PTCH1):c.395T>C (p.Val132Ala)
NM_000264.5(PTCH1):c.3962A>G (p.Asp1321Gly)
NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr) rs896779358
NM_000264.5(PTCH1):c.3965C>T (p.Ala1322Val) rs1054532927
NM_000264.5(PTCH1):c.3968T>C (p.Phe1323Ser)
NM_000264.5(PTCH1):c.3971A>G (p.Glu1324Gly)
NM_000264.5(PTCH1):c.3975T>C (p.Ile1325=)
NM_000264.5(PTCH1):c.3976T>C (p.Ser1326Pro)
NM_000264.5(PTCH1):c.3977C>T (p.Ser1326Phe) rs764964224
NM_000264.5(PTCH1):c.3979A>G (p.Thr1327Ala) rs761753681
NM_000264.5(PTCH1):c.3981T>C (p.Thr1327=) rs1588511470
NM_000264.5(PTCH1):c.3981T>G (p.Thr1327=) rs1588511470
NM_000264.5(PTCH1):c.3989A>G (p.His1330Arg) rs1564005652
NM_000264.5(PTCH1):c.3992C>G (p.Ser1331Cys) rs150373546
NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe) rs150373546
NM_000264.5(PTCH1):c.399A>G (p.Gly133=) rs2118551268
NM_000264.5(PTCH1):c.39C>T (p.Arg13=) rs1587701094
NM_000264.5(PTCH1):c.4000_4023dup (p.Ser1334_Pro1341dup) rs1588511230
NM_000264.5(PTCH1):c.4001G>C (p.Ser1334Thr) rs200620662
NM_000264.5(PTCH1):c.4002C>A (p.Ser1334Arg) rs933654875
NM_000264.5(PTCH1):c.4002C>T (p.Ser1334=)
NM_000264.5(PTCH1):c.4005T>C (p.Asn1335=) rs1588511343
NM_000264.5(PTCH1):c.4006_4026del (p.Arg1336_Arg1342del)
NM_000264.5(PTCH1):c.4007G>A (p.Arg1336Lys) rs1838019737
NM_000264.5(PTCH1):c.4008G>A (p.Arg1336=) rs1838019496
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
NM_000264.5(PTCH1):c.4010C>T (p.Ala1337Val)
NM_000264.5(PTCH1):c.4011C>T (p.Ala1337=)
NM_000264.5(PTCH1):c.4013G>T (p.Arg1338Leu) rs771238114
NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del) rs774819810
NM_000264.5(PTCH1):c.4018G>A (p.Gly1340Ser)
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp) rs1218728112
NM_000264.5(PTCH1):c.4019G>C (p.Gly1340Ala)
NM_000264.5(PTCH1):c.4020C>G (p.Gly1340=) rs773564643
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=) rs773564643
NM_000264.5(PTCH1):c.4021C>T (p.Pro1341Ser)
NM_000264.5(PTCH1):c.4022C>T (p.Pro1341Leu) rs748609458
NM_000264.5(PTCH1):c.4024C>G (p.Arg1342Gly) rs781539921
NM_000264.5(PTCH1):c.4025G>T (p.Arg1342Leu) rs575146278
NM_000264.5(PTCH1):c.4026C>A (p.Arg1342=)
NM_000264.5(PTCH1):c.4027G>T (p.Gly1343Trp) rs200100952
NM_000264.5(PTCH1):c.4029G>A (p.Gly1343=) rs750057721
NM_000264.5(PTCH1):c.402A>C (p.Gly134=)
NM_000264.5(PTCH1):c.4031C>T (p.Ala1344Val) rs1060502289
NM_000264.5(PTCH1):c.4032C>T (p.Ala1344=) rs1838013057
NM_000264.5(PTCH1):c.4033C>G (p.Arg1345Gly) rs556901417
NM_000264.5(PTCH1):c.4037C>T (p.Ser1346Phe) rs1554688418
NM_000264.5(PTCH1):c.4039C>T (p.His1347Tyr) rs760724368
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter) rs1131690986
NM_000264.5(PTCH1):c.403_406del (p.Gly134_Arg135insTer)
NM_000264.5(PTCH1):c.4040A>T (p.His1347Leu) rs2136578408
NM_000264.5(PTCH1):c.4041C>A (p.His1347Gln) rs774524114
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys) rs1412873206
NM_000264.5(PTCH1):c.4044C>T (p.Asn1348=) rs1412873206
NM_000264.5(PTCH1):c.4048C>A (p.Arg1350=) rs140417636
NM_000264.5(PTCH1):c.4048C>G (p.Arg1350Gly) rs140417636
NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) rs786204103
NM_000264.5(PTCH1):c.4052A>G (p.Asn1351Ser) rs1588510932
NM_000264.5(PTCH1):c.4053C>A (p.Asn1351Lys) rs1564005341
NM_000264.5(PTCH1):c.4055C>T (p.Pro1352Leu) rs1022984391
NM_000264.5(PTCH1):c.405A>G (p.Arg135=)
NM_000264.5(PTCH1):c.4060T>C (p.Ser1354Pro)
NM_000264.5(PTCH1):c.4064C>T (p.Thr1355Ile) rs779482395
NM_000264.5(PTCH1):c.4067C>T (p.Ala1356Val) rs2136577556
NM_000264.5(PTCH1):c.4069A>G (p.Met1357Val) rs757909121
NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu) rs757909121
NM_000264.5(PTCH1):c.406G>A (p.Val136Ile) rs1240746395
NM_000264.5(PTCH1):c.406del (p.Arg135_Val136insTer) rs2118550859
NM_000264.5(PTCH1):c.4070T>C (p.Met1357Thr)
NM_000264.5(PTCH1):c.4071G>A (p.Met1357Ile)
NM_000264.5(PTCH1):c.4075A>G (p.Ser1359Gly)
NM_000264.5(PTCH1):c.4077C>T (p.Ser1359=)
NM_000264.5(PTCH1):c.4078T>C (p.Ser1360Pro) rs1838003007
NM_000264.5(PTCH1):c.407dup (p.Ser137fs) rs1564063386
NM_000264.5(PTCH1):c.4080C>A (p.Ser1360=) rs62637631
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.5(PTCH1):c.4084C>T (p.Pro1362Ser) rs1838001528
NM_000264.5(PTCH1):c.4085C>G (p.Pro1362Arg)
NM_000264.5(PTCH1):c.4087G>C (p.Gly1363Arg) rs767625820
NM_000264.5(PTCH1):c.4089C>T (p.Gly1363=)
NM_000264.5(PTCH1):c.408A>G (p.Val136=)
NM_000264.5(PTCH1):c.4091A>G (p.Tyr1364Cys) rs1838000346
NM_000264.5(PTCH1):c.4092C>T (p.Tyr1364=) rs2136576724
NM_000264.5(PTCH1):c.4094G>T (p.Cys1365Phe) rs1397510746
NM_000264.5(PTCH1):c.4095C>T (p.Cys1365=) rs864622569
NM_000264.5(PTCH1):c.40G>A (p.Gly14Ser) rs1233426743
NM_000264.5(PTCH1):c.40GGC[1] (p.Gly15_Gly17del) rs756897237
NM_000264.5(PTCH1):c.40GGC[2] (p.Gly16_Gly17del) rs756897237
NM_000264.5(PTCH1):c.40GGC[3] (p.Gly17del) rs756897237
NM_000264.5(PTCH1):c.40GGC[5] (p.Gly17dup) rs756897237
NM_000264.5(PTCH1):c.40GGC[6] (p.Gly16_Gly17dup) rs756897237
NM_000264.5(PTCH1):c.40GGC[7] (p.Gly15_Gly17dup) rs756897237
NM_000264.5(PTCH1):c.4101C>T (p.Pro1367=)
NM_000264.5(PTCH1):c.4106C>G (p.Thr1369Ser)
NM_000264.5(PTCH1):c.4106C>T (p.Thr1369Ile) rs762925808
NM_000264.5(PTCH1):c.4108_4110del (p.Thr1370del)
NM_000264.5(PTCH1):c.410G>A (p.Ser137Asn)
NM_000264.5(PTCH1):c.4110T>C (p.Thr1370=)
NM_000264.5(PTCH1):c.4111G>A (p.Val1371Met) rs1837997469
NM_000264.5(PTCH1):c.4112T>C (p.Val1371Ala)
NM_000264.5(PTCH1):c.4116G>A (p.Thr1372=) rs776937004
NM_000264.5(PTCH1):c.4116G>T (p.Thr1372=) rs776937004
NM_000264.5(PTCH1):c.4117G>A (p.Ala1373Thr) rs1267726258
NM_000264.5(PTCH1):c.4118C>G (p.Ala1373Gly) rs2136576006
NM_000264.5(PTCH1):c.4123G>A (p.Ala1375Thr)
NM_000264.5(PTCH1):c.4123G>T (p.Ala1375Ser) rs769022340
NM_000264.5(PTCH1):c.4125C>G (p.Ala1375=)
NM_000264.5(PTCH1):c.4125C>T (p.Ala1375=) rs775974258
NM_000264.5(PTCH1):c.4129G>C (p.Val1377Leu) rs745337014
NM_000264.5(PTCH1):c.4131G>C (p.Val1377=) rs2136575661
NM_000264.5(PTCH1):c.4133C>G (p.Thr1378Ser)
NM_000264.5(PTCH1):c.4135G>C (p.Val1379Leu) rs2136575538
NM_000264.5(PTCH1):c.4138G>C (p.Ala1380Pro) rs111481152
NM_000264.5(PTCH1):c.4138G>T (p.Ala1380Ser) rs111481152
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val) rs777641179
NM_000264.5(PTCH1):c.4140C>A (p.Ala1380=)
NM_000264.5(PTCH1):c.4141G>T (p.Val1381Leu) rs187104739
NM_000264.5(PTCH1):c.4143G>A (p.Val1381=) rs2136575217
NM_000264.5(PTCH1):c.4145A>C (p.His1382Pro) rs1837991686
NM_000264.5(PTCH1):c.4145A>G (p.His1382Arg)
NM_000264.5(PTCH1):c.4146C>G (p.His1382Gln) rs1207158056
NM_000264.5(PTCH1):c.4149G>T (p.Pro1383=)
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu) rs754065147
NM_000264.5(PTCH1):c.4155T>G (p.Pro1385=) rs2136574783
NM_000264.5(PTCH1):c.4158C>T (p.Val1386=)
NM_000264.5(PTCH1):c.4160C>G (p.Pro1387Arg) rs552921967
NM_000264.5(PTCH1):c.4160CTGGGC[1] (p.1387PG[1])
NM_000264.5(PTCH1):c.4160CTGGGC[3] (p.1387PG[3]) rs1060502272
NM_000264.5(PTCH1):c.4160del (p.Pro1387fs) rs1837987148
NM_000264.5(PTCH1):c.4163G>A (p.Gly1388Glu)
NM_000264.5(PTCH1):c.4165C>T (p.Pro1389Ser) rs1180812915
NM_000264.5(PTCH1):c.4166C>G (p.Pro1389Arg) rs1837985984
NM_000264.5(PTCH1):c.4166C>T (p.Pro1389Leu) rs1837985984
NM_000264.5(PTCH1):c.4167T>C (p.Pro1389=)
NM_000264.5(PTCH1):c.4168G>C (p.Gly1390Arg) rs1239904766
NM_000264.5(PTCH1):c.4168G>T (p.Gly1390Trp) rs1239904766
NM_000264.5(PTCH1):c.4169G>A (p.Gly1390Glu) rs1837985101
NM_000264.5(PTCH1):c.416A>G (p.Glu139Gly)
NM_000264.5(PTCH1):c.4171C>A (p.Arg1391=) rs45535032
NM_000264.5(PTCH1):c.4177C>A (p.Pro1393Thr) rs1388774785
NM_000264.5(PTCH1):c.4177C>T (p.Pro1393Ser)
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu) rs1368334005
NM_000264.5(PTCH1):c.4179C>A (p.Pro1393=) rs1057521043
NM_000264.5(PTCH1):c.4179C>T (p.Pro1393=) rs1057521043
NM_000264.5(PTCH1):c.417A>G (p.Glu139=) rs755854293
NM_000264.5(PTCH1):c.4180dup (p.Arg1394fs) rs1297699637
NM_000264.5(PTCH1):c.4184G>A (p.Gly1395Glu)
NM_000264.5(PTCH1):c.4185G>T (p.Gly1395=) rs769616992
NM_000264.5(PTCH1):c.4187G>C (p.Gly1396Ala)
NM_000264.5(PTCH1):c.4187G>T (p.Gly1396Val) rs747923595
NM_000264.5(PTCH1):c.4187del (p.Gly1396fs) rs1588510168
NM_000264.5(PTCH1):c.4188A>G (p.Gly1396=) rs2136573868
NM_000264.5(PTCH1):c.4188del (p.Leu1397fs)
NM_000264.5(PTCH1):c.4189C>A (p.Leu1397Ile) rs1837978959
NM_000264.5(PTCH1):c.4189C>T (p.Leu1397Phe) rs1837978959
NM_000264.5(PTCH1):c.418T>C (p.Leu140=) rs2118549817
NM_000264.5(PTCH1):c.4191C>G (p.Leu1397=) rs754826635
NM_000264.5(PTCH1):c.4191C>T (p.Leu1397=) rs754826635
NM_000264.5(PTCH1):c.4191_4192dup (p.Cys1398fs)
NM_000264.5(PTCH1):c.4192T>C (p.Cys1398Arg) rs1372936088
NM_000264.5(PTCH1):c.4193G>A (p.Cys1398Tyr)
NM_000264.5(PTCH1):c.4193G>C (p.Cys1398Ser)
NM_000264.5(PTCH1):c.4193del (p.Cys1398fs) rs1837977676
NM_000264.5(PTCH1):c.4194C>T (p.Cys1398=)
NM_000264.5(PTCH1):c.4196C>T (p.Pro1399Leu) rs1564004776
NM_000264.5(PTCH1):c.4197A>G (p.Pro1399=)
NM_000264.5(PTCH1):c.4200C>A (p.Gly1400=)
NM_000264.5(PTCH1):c.4200C>T (p.Gly1400=) rs1554688167
NM_000264.5(PTCH1):c.4201T>C (p.Tyr1401His) rs2136573477
NM_000264.5(PTCH1):c.4202A>C (p.Tyr1401Ser)
NM_000264.5(PTCH1):c.4202A>G (p.Tyr1401Cys) rs1837975310
NM_000264.5(PTCH1):c.4203C>T (p.Tyr1401=) rs1588510064
NM_000264.5(PTCH1):c.4207G>A (p.Glu1403Lys)
NM_000264.5(PTCH1):c.4208A>G (p.Glu1403Gly) rs1837974768
NM_000264.5(PTCH1):c.4214A>G (p.Asp1405Gly)
NM_000264.5(PTCH1):c.4215C>T (p.Asp1405=) rs2136573135
NM_000264.5(PTCH1):c.4216C>G (p.His1406Asp) rs1837973275
NM_000264.5(PTCH1):c.4218C>A (p.His1406Gln) rs372558350
NM_000264.5(PTCH1):c.4218del (p.His1406fs) rs2136573069
NM_000264.5(PTCH1):c.4219_4220dup (p.Leu1408fs)
NM_000264.5(PTCH1):c.421A>G (p.Asn141Asp) rs1841928550
NM_000264.5(PTCH1):c.4226T>C (p.Phe1409Ser)
NM_000264.5(PTCH1):c.4228G>A (p.Glu1410Lys) rs1554688143
NM_000264.5(PTCH1):c.4230G>A (p.Glu1410=) rs774528758
NM_000264.5(PTCH1):c.4230_4231insACTGAG (p.Glu1410_Asp1411insThrGlu) rs1434554186
NM_000264.5(PTCH1):c.4232A>G (p.Asp1411Gly) rs774913538
NM_000264.5(PTCH1):c.4232A>T (p.Asp1411Val)
NM_000264.5(PTCH1):c.4233C>A (p.Asp1411Glu) rs2136572617
NM_000264.5(PTCH1):c.4233C>T (p.Asp1411=) rs2136572617
NM_000264.5(PTCH1):c.4234C>G (p.Pro1412Ala) rs1554688130
NM_000264.5(PTCH1):c.4234C>T (p.Pro1412Ser) rs1554688130
NM_000264.5(PTCH1):c.4236C>G (p.Pro1412=) rs369083374
NM_000264.5(PTCH1):c.4236C>T (p.Pro1412=) rs369083374
NM_000264.5(PTCH1):c.4238A>G (p.His1413Arg)
NM_000264.5(PTCH1):c.4239C>A (p.His1413Gln)
NM_000264.5(PTCH1):c.4240G>T (p.Val1414Leu)
NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
NM_000264.5(PTCH1):c.4242G>A (p.Val1414=) rs1390378010
NM_000264.5(PTCH1):c.4243C>G (p.Pro1415Ala) rs1837967897
NM_000264.5(PTCH1):c.4246T>C (p.Phe1416Leu) rs1554688102
NM_000264.5(PTCH1):c.4246_4247dup (p.His1417fs)
NM_000264.5(PTCH1):c.4247T>G (p.Phe1416Cys) rs1837966836
NM_000264.5(PTCH1):c.4250A>G (p.His1417Arg)
NM_000264.5(PTCH1):c.4252G>T (p.Val1418Phe) rs369882883
NM_000264.5(PTCH1):c.4253T>C (p.Val1418Ala) rs2136572074
NM_000264.5(PTCH1):c.4254C>T (p.Val1418=) rs1295502837
NM_000264.5(PTCH1):c.4255C>A (p.Arg1419=) rs139942632
NM_000264.5(PTCH1):c.4255C>G (p.Arg1419Gly)
NM_000264.5(PTCH1):c.4257G>C (p.Arg1419=) rs1588509739
NM_000264.5(PTCH1):c.4257G>T (p.Arg1419=) rs1588509739
NM_000264.5(PTCH1):c.4258T>C (p.Cys1420Arg) rs864622068
NM_000264.5(PTCH1):c.4259G>A (p.Cys1420Tyr) rs913816675
NM_000264.5(PTCH1):c.425A>G (p.Tyr142Cys)
NM_000264.5(PTCH1):c.4261G>A (p.Glu1421Lys) rs575473447
NM_000264.5(PTCH1):c.4263G>A (p.Glu1421=) rs2136571795
NM_000264.5(PTCH1):c.4264A>G (p.Arg1422Gly) rs1246323077
NM_000264.5(PTCH1):c.4267A>G (p.Arg1423Gly)
NM_000264.5(PTCH1):c.4268G>A (p.Arg1423Lys)
NM_000264.5(PTCH1):c.4269G>T (p.Arg1423Ser)
NM_000264.5(PTCH1):c.426T>C (p.Tyr142=)
NM_000264.5(PTCH1):c.4270G>T (p.Asp1424Tyr) rs1837962537
NM_000264.5(PTCH1):c.4272T>C (p.Asp1424=)
NM_000264.5(PTCH1):c.4275G>T (p.Ser1425=)
NM_000264.5(PTCH1):c.4276A>G (p.Lys1426Glu)
NM_000264.5(PTCH1):c.4277A>C (p.Lys1426Thr)
NM_000264.5(PTCH1):c.4278G>A (p.Lys1426=)
NM_000264.5(PTCH1):c.4279G>A (p.Val1427Met)
NM_000264.5(PTCH1):c.4279G>C (p.Val1427Leu)
NM_000264.5(PTCH1):c.4280T>C (p.Val1427Ala) rs1060502283
NM_000264.5(PTCH1):c.4282G>A (p.Glu1428Lys)
NM_000264.5(PTCH1):c.4286T>C (p.Val1429Ala)
NM_000264.5(PTCH1):c.4295T>A (p.Leu1432Gln) rs755078405
NM_000264.5(PTCH1):c.4295T>C (p.Leu1432Pro)
NM_000264.5(PTCH1):c.4296G>A (p.Leu1432=) rs1554688070
NM_000264.5(PTCH1):c.4296G>T (p.Leu1432=) rs1554688070
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu) rs772802013
NM_000264.5(PTCH1):c.429T>A (p.Thr143=)
NM_000264.5(PTCH1):c.429T>C (p.Thr143=)
NM_000264.5(PTCH1):c.429T>G (p.Thr143=)
NM_000264.5(PTCH1):c.4301A>G (p.Asp1434Gly) rs2136571074
NM_000264.5(PTCH1):c.4305G>A (p.Val1435=)
NM_000264.5(PTCH1):c.4306G>C (p.Glu1436Gln)
NM_000264.5(PTCH1):c.4307A>G (p.Glu1436Gly) rs2136570975
NM_000264.5(PTCH1):c.4309T>G (p.Cys1437Gly)
NM_000264.5(PTCH1):c.430del (p.Arg144fs)
NM_000264.5(PTCH1):c.4311C>G (p.Cys1437Trp) rs368571026
NM_000264.5(PTCH1):c.4312G>C (p.Glu1438Gln)
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter) rs2136570815
NM_000264.5(PTCH1):c.4317G>C (p.Glu1439Asp)
NM_000264.5(PTCH1):c.4318A>G (p.Arg1440Gly) rs1564004291
NM_000264.5(PTCH1):c.4319G>A (p.Arg1440Lys) rs1354112241
NM_000264.5(PTCH1):c.431G>A (p.Arg144His) rs1316474105
NM_000264.5(PTCH1):c.431G>T (p.Arg144Leu) rs1316474105
NM_000264.5(PTCH1):c.431_438del (p.Arg144fs) rs2118548727
NM_000264.5(PTCH1):c.4324C>A (p.Arg1442=)
NM_000264.5(PTCH1):c.4324C>G (p.Arg1442Gly) rs143464326
NM_000264.5(PTCH1):c.4325G>T (p.Arg1442Leu) rs56023271
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val) rs864622100
NM_000264.5(PTCH1):c.4330A>C (p.Ser1444Arg)
NM_000264.5(PTCH1):c.4331G>A (p.Ser1444Asn) rs1347860599
NM_000264.5(PTCH1):c.4332C>T (p.Ser1444=) rs1325469372
NM_000264.5(PTCH1):c.4337C>T (p.Ser1446Phe) rs2136570475
NM_000264.5(PTCH1):c.433C>T (p.Gln145Ter) rs1554702186
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser) rs972576439
NM_000264.5(PTCH1):c.4342T>C (p.Ter1448Arg)
NM_000264.5(PTCH1):c.4343G>A (p.Ter1448=) rs2136570427
NM_000264.5(PTCH1):c.434A>G (p.Gln145Arg)
NM_000264.5(PTCH1):c.435G>A (p.Gln145=)
NM_000264.5(PTCH1):c.435G>T (p.Gln145His)
NM_000264.5(PTCH1):c.439A>G (p.Ile147Val) rs1564063300
NM_000264.5(PTCH1):c.43G>A (p.Gly15Ser) rs1240000266
NM_000264.5(PTCH1):c.440T>C (p.Ile147Thr) rs1588622790
NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter) rs1344258746
NM_000264.5(PTCH1):c.451del (p.Ala151fs) rs2118547596
NM_000264.5(PTCH1):c.452_464del (p.Ala151fs) rs1841923572
NM_000264.5(PTCH1):c.453T>C (p.Ala151=)
NM_000264.5(PTCH1):c.453T>G (p.Ala151=) rs879188085
NM_000264.5(PTCH1):c.454_455del (p.Met152fs) rs1060502280
NM_000264.5(PTCH1):c.45C>T (p.Gly15=) rs1843910367
NM_000264.5(PTCH1):c.461A>T (p.Asn154Ile) rs1302474403
NM_000264.5(PTCH1):c.466C>T (p.Gln156Ter) rs2118546196
NM_000264.5(PTCH1):c.468A>C (p.Gln156His) rs200729445
NM_000264.5(PTCH1):c.468A>G (p.Gln156=) rs200729445
NM_000264.5(PTCH1):c.469C>A (p.Leu157Ile)
NM_000264.5(PTCH1):c.470T>C (p.Leu157Pro) rs2118545890
NM_000264.5(PTCH1):c.471C>T (p.Leu157=)
NM_000264.5(PTCH1):c.472A>C (p.Met158Leu) rs758656848
NM_000264.5(PTCH1):c.472A>G (p.Met158Val) rs758656848
NM_000264.5(PTCH1):c.474G>A (p.Met158Ile)
NM_000264.5(PTCH1):c.475A>G (p.Ile159Val) rs1060502288
NM_000264.5(PTCH1):c.478C>T (p.Gln160Ter)
NM_000264.5(PTCH1):c.479A>G (p.Gln160Arg) rs1060502267
NM_000264.5(PTCH1):c.47G>A (p.Gly16Asp) rs1843909922
NM_000264.5(PTCH1):c.480G>A (p.Gln160=) rs1841921572
NM_000264.5(PTCH1):c.482C>G (p.Thr161Ser)
NM_000264.5(PTCH1):c.485C>T (p.Pro162Leu)
NM_000264.5(PTCH1):c.487A>G (p.Lys163Glu) rs1588622580
NM_000264.5(PTCH1):c.488A>C (p.Lys163Thr) rs56406491
NM_000264.5(PTCH1):c.488A>G (p.Lys163Arg) rs56406491
NM_000264.5(PTCH1):c.488AAG[2] (p.Glu165del) rs1201611173
NM_000264.5(PTCH1):c.489A>G (p.Lys163=) rs2118544161
NM_000264.5(PTCH1):c.490G>A (p.Glu164Lys) rs2118544070
NM_000264.5(PTCH1):c.490G>T (p.Glu164Ter)
NM_000264.5(PTCH1):c.496G>A (p.Gly166Ser) rs2118543729
NM_000264.5(PTCH1):c.49_57dup (p.Gly19_Cys20insGlySerGly)
NM_000264.5(PTCH1):c.500C>T (p.Ala167Val) rs587780707
NM_000264.5(PTCH1):c.501T>A (p.Ala167=) rs1841918369
NM_000264.5(PTCH1):c.501T>C (p.Ala167=) rs1841918369
NM_000264.5(PTCH1):c.501_502dup (p.Asn168fs) rs2118543334
NM_000264.5(PTCH1):c.502A>G (p.Asn168Asp) rs2118543274
NM_000264.5(PTCH1):c.503A>C (p.Asn168Thr)
NM_000264.5(PTCH1):c.505G>C (p.Val169Leu)
NM_000264.5(PTCH1):c.507C>G (p.Val169=) rs1490972795
NM_000264.5(PTCH1):c.507C>T (p.Val169=) rs1490972795
NM_000264.5(PTCH1):c.508C>G (p.Leu170Val) rs1841917213
NM_000264.5(PTCH1):c.508C>T (p.Leu170=)
NM_000264.5(PTCH1):c.510G>A (p.Leu170=)
NM_000264.5(PTCH1):c.512C>T (p.Thr171Ile) rs1554702106
NM_000264.5(PTCH1):c.521C>G (p.Ala174Gly) rs772368023
NM_000264.5(PTCH1):c.522G>T (p.Ala174=) rs891032185
NM_000264.5(PTCH1):c.525C>T (p.Leu175=) rs1554702079
NM_000264.5(PTCH1):c.528ACA[1] (p.Gln177del) rs864622108
NM_000264.5(PTCH1):c.529C>T (p.Gln177Ter) rs2118540467
NM_000264.5(PTCH1):c.52A>G (p.Ser18Gly) rs1199437529
NM_000264.5(PTCH1):c.52A>T (p.Ser18Cys)
NM_000264.5(PTCH1):c.52_57del (p.Ser18_Gly19del)
NM_000264.5(PTCH1):c.52_57dup (p.Ser18_Gly19dup) rs1554709549
NM_000264.5(PTCH1):c.531A>T (p.Gln177His) rs1841912540
NM_000264.5(PTCH1):c.533A>G (p.His178Arg) rs1588622337
NM_000264.5(PTCH1):c.538G>C (p.Asp180His) rs1554702067
NM_000264.5(PTCH1):c.53G>T (p.Ser18Ile)
NM_000264.5(PTCH1):c.540C>G (p.Asp180Glu)
NM_000264.5(PTCH1):c.544G>A (p.Ala182Thr) rs2118539440
NM_000264.5(PTCH1):c.54C>T (p.Ser18=) rs1328705680
NM_000264.5(PTCH1):c.551A>G (p.Gln184Arg)
NM_000264.5(PTCH1):c.554C>T (p.Ala185Val) rs1276503562
NM_000264.5(PTCH1):c.554_584+1dup rs2118537234
NM_000264.5(PTCH1):c.555C>T (p.Ala185=) rs1197767332
NM_000264.5(PTCH1):c.555del (p.Ser186fs) rs2118538755
NM_000264.5(PTCH1):c.556A>G (p.Ser186Gly) rs1564062769
NM_000264.5(PTCH1):c.559C>T (p.Arg187Cys) rs1554702047
NM_000264.5(PTCH1):c.559del (p.Arg187fs)
NM_000264.5(PTCH1):c.55_57dup (p.Gly19dup) rs1587700945
NM_000264.5(PTCH1):c.55_60del (p.Gly19_Cys20del) rs1554709544
NM_000264.5(PTCH1):c.560_574del (p.Arg187_Met192delinsLeu) rs1841905841
NM_000264.5(PTCH1):c.564C>A (p.Val188=)
NM_000264.5(PTCH1):c.564C>G (p.Val188=) rs963079015
NM_000264.5(PTCH1):c.564C>T (p.Val188=)
NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
NM_000264.5(PTCH1):c.56G>A (p.Gly19Asp) rs587780708
NM_000264.5(PTCH1):c.56G>C (p.Gly19Ala)
NM_000264.5(PTCH1):c.570A>G (p.Val190=) rs1292107414
NM_000264.5(PTCH1):c.571T>C (p.Tyr191His) rs1480028040
NM_000264.5(PTCH1):c.573C>A (p.Tyr191Ter) rs1249050389
NM_000264.5(PTCH1):c.573C>T (p.Tyr191=) rs1249050389
NM_000264.5(PTCH1):c.577T>C (p.Tyr193His) rs1841905015
NM_000264.5(PTCH1):c.579C>A (p.Tyr193Ter) rs1333346461
NM_000264.5(PTCH1):c.57C>T (p.Gly19=) rs1225887272
NM_000264.5(PTCH1):c.582C>T (p.Asn194=) rs2118537361
NM_000264.5(PTCH1):c.584+10G>C rs765713791
NM_000264.5(PTCH1):c.584+16T>A
NM_000264.5(PTCH1):c.584+16T>G
NM_000264.5(PTCH1):c.584+18C>G
NM_000264.5(PTCH1):c.584+20C>T
NM_000264.5(PTCH1):c.584+8C>T
NM_000264.5(PTCH1):c.584G>A (p.Arg195Lys) rs1554702009
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr) rs1554702009
NM_000264.5(PTCH1):c.585-10A>G
NM_000264.5(PTCH1):c.585-11_585-7del rs1588614760
NM_000264.5(PTCH1):c.585-17_585-13del rs776103507
NM_000264.5(PTCH1):c.585-1G>A
NM_000264.5(PTCH1):c.585-1G>C rs1057520590
NM_000264.5(PTCH1):c.585-20T>G
NM_000264.5(PTCH1):c.585-5A>G rs1588614746
NM_000264.5(PTCH1):c.585G>A (p.Arg195=)
NM_000264.5(PTCH1):c.586C>T (p.Gln196Ter)
NM_000264.5(PTCH1):c.589T>C (p.Trp197Arg) rs1312950307
NM_000264.5(PTCH1):c.58T>A (p.Cys20Ser)
NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter) rs1064793922
NM_000264.5(PTCH1):c.591G>A (p.Trp197Ter) rs1841597665
NM_000264.5(PTCH1):c.594del (p.Lys198fs)
NM_000264.5(PTCH1):c.595T>C (p.Leu199=) rs2118474956
NM_000264.5(PTCH1):c.596T>G (p.Leu199Trp) rs767791358
NM_000264.5(PTCH1):c.597G>A (p.Leu199=)
NM_000264.5(PTCH1):c.598G>A (p.Glu200Lys)
NM_000264.5(PTCH1):c.59G>C (p.Cys20Ser)
NM_000264.5(PTCH1):c.5C>T (p.Ala2Val) rs1843916565
NM_000264.5(PTCH1):c.600A>G (p.Glu200=)
NM_000264.5(PTCH1):c.602del (p.His201fs) rs1554700742
NM_000264.5(PTCH1):c.603T>A (p.His201Gln)
NM_000264.5(PTCH1):c.606G>A (p.Leu202=) rs769719333
NM_000264.5(PTCH1):c.606G>T (p.Leu202Phe) rs769719333
NM_000264.5(PTCH1):c.610T>G (p.Tyr204Asp)
NM_000264.5(PTCH1):c.612C>G (p.Tyr204Ter) rs863224486
NM_000264.5(PTCH1):c.612C>T (p.Tyr204=)
NM_000264.5(PTCH1):c.614A>C (p.Lys205Thr) rs1841595401
NM_000264.5(PTCH1):c.615del (p.Lys205fs) rs1554700720
NM_000264.5(PTCH1):c.617C>G (p.Ser206Ter)
NM_000264.5(PTCH1):c.618A>C (p.Ser206=)
NM_000264.5(PTCH1):c.618A>G (p.Ser206=) rs1841594710
NM_000264.5(PTCH1):c.61A>G (p.Ile21Val) rs756724967
NM_000264.5(PTCH1):c.623A>C (p.Glu208Ala) rs2118473498
NM_000264.5(PTCH1):c.627del (p.Ile210fs) rs1564058222
NM_000264.5(PTCH1):c.628A>G (p.Ile210Val) rs1588614551
NM_000264.5(PTCH1):c.628A>T (p.Ile210Phe) rs1588614551
NM_000264.5(PTCH1):c.62T>A (p.Ile21Asn) rs1843904837
NM_000264.5(PTCH1):c.631A>T (p.Thr211Ser)
NM_000264.5(PTCH1):c.633A>G (p.Thr211=)
NM_000264.5(PTCH1):c.639del (p.Gly214fs) rs2118472793
NM_000264.5(PTCH1):c.63C>A (p.Ile21=) rs1284183739
NM_000264.5(PTCH1):c.63C>G (p.Ile21Met) rs1284183739
NM_000264.5(PTCH1):c.63C>T (p.Ile21=) rs1284183739
NM_000264.5(PTCH1):c.641G>A (p.Gly214Asp)
NM_000264.5(PTCH1):c.641G>T (p.Gly214Val) rs2118472707
NM_000264.5(PTCH1):c.645C>T (p.Tyr215=) rs878853858
NM_000264.5(PTCH1):c.647T>C (p.Met216Thr)
NM_000264.5(PTCH1):c.648_651dup (p.Gln218fs) rs2118472215
NM_000264.5(PTCH1):c.649G>T (p.Asp217Tyr)
NM_000264.5(PTCH1):c.652dup (p.Gln218fs) rs1564058147
NM_000264.5(PTCH1):c.654+10C>G
NM_000264.5(PTCH1):c.654+12T>G rs1841588620
NM_000264.5(PTCH1):c.654+13C>A
NM_000264.5(PTCH1):c.654+16G>C
NM_000264.5(PTCH1):c.654+17T>C
NM_000264.5(PTCH1):c.654+19G>A
NM_000264.5(PTCH1):c.654+19G>T
NM_000264.5(PTCH1):c.654+1G>A rs2118471978
NM_000264.5(PTCH1):c.654+3A>G rs1131690966
NM_000264.5(PTCH1):c.654+7T>A rs1588614471
NM_000264.5(PTCH1):c.654+8T>G rs2118471579
NM_000264.5(PTCH1):c.654+9T>C rs1554700690
NM_000264.5(PTCH1):c.655-11A>G
NM_000264.5(PTCH1):c.655-12_655-11insGGCCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGAGACTGGATGGTCTGGATCTCGTGTACTCGTGATACTCCCGCCTCTGCCTCCCAAACAGCTGGGATTACAGGCGTGAGCCACTTCGCCCGGCC
NM_000264.5(PTCH1):c.655-17_655-15del
NM_000264.5(PTCH1):c.655-1G>T
NM_000264.5(PTCH1):c.655-20C>A
NM_000264.5(PTCH1):c.655-2A>G
NM_000264.5(PTCH1):c.657A>C (p.Ile219=)
NM_000264.5(PTCH1):c.657A>T (p.Ile219=) rs1425544626
NM_000264.5(PTCH1):c.65G>T (p.Gly22Val) rs575700967
NM_000264.5(PTCH1):c.660_661insAA (p.Glu221fs) rs2118466784
NM_000264.5(PTCH1):c.661G>A (p.Glu221Lys) rs1554700647
NM_000264.5(PTCH1):c.663A>G (p.Glu221=) rs1479973586
NM_000264.5(PTCH1):c.665A>C (p.Tyr222Ser)
NM_000264.5(PTCH1):c.666T>A (p.Tyr222Ter) rs863224487
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile) rs1266754583
NM_000264.5(PTCH1):c.670T>C (p.Tyr224His)
NM_000264.5(PTCH1):c.672C>A (p.Tyr224Ter) rs1588614178
NM_000264.5(PTCH1):c.672C>T (p.Tyr224=) rs1588614178
NM_000264.5(PTCH1):c.676T>G (p.Cys226Gly)
NM_000264.5(PTCH1):c.680T>A (p.Leu227Ter) rs1841576850
NM_000264.5(PTCH1):c.681G>C (p.Leu227Phe)
NM_000264.5(PTCH1):c.681_684del (p.Ile228fs) rs1841576526
NM_000264.5(PTCH1):c.682A>C (p.Ile228Leu) rs2118465097
NM_000264.5(PTCH1):c.685A>G (p.Ile229Val) rs1841575695
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000264.5(PTCH1):c.690A>G (p.Thr230=) rs2118464335
NM_000264.5(PTCH1):c.691C>T (p.Pro231Ser) rs1564057856
NM_000264.5(PTCH1):c.692C>T (p.Pro231Leu)
NM_000264.5(PTCH1):c.694T>C (p.Leu232=)
NM_000264.5(PTCH1):c.69C>G (p.Ala23=) rs753155080
NM_000264.5(PTCH1):c.6C>T (p.Ala2=) rs1843916368
NM_000264.5(PTCH1):c.6_11del (p.Ser3_Ala4del) rs2118910700
NM_000264.5(PTCH1):c.700T>C (p.Cys234Arg)
NM_000264.5(PTCH1):c.701G>T (p.Cys234Phe) rs1060502299
NM_000264.5(PTCH1):c.702C>A (p.Cys234Ter)
NM_000264.5(PTCH1):c.702C>T (p.Cys234=)
NM_000264.5(PTCH1):c.707G>A (p.Trp236Ter) rs1841574026
NM_000264.5(PTCH1):c.708G>A (p.Trp236Ter) rs1060502287
NM_000264.5(PTCH1):c.709G>A (p.Glu237Lys) rs2118462668
NM_000264.5(PTCH1):c.70C>A (p.Pro24Thr)
NM_000264.5(PTCH1):c.711A>G (p.Glu237=) rs1588614118
NM_000264.5(PTCH1):c.714G>C (p.Gly238=)
NM_000264.5(PTCH1):c.715G>A (p.Ala239Thr) rs1841573078
NM_000264.5(PTCH1):c.715del (p.Ala239fs) rs1131690971
NM_000264.5(PTCH1):c.716C>T (p.Ala239Val)
NM_000264.5(PTCH1):c.71C>G (p.Pro24Arg) rs767973616
NM_000264.5(PTCH1):c.721T>C (p.Leu241=) rs1554700612
NM_000264.5(PTCH1):c.722T>G (p.Leu241Ter) rs2118461277
NM_000264.5(PTCH1):c.723A>G (p.Leu241=) rs2118461122
NM_000264.5(PTCH1):c.724C>T (p.Gln242Ter) rs376353501
NM_000264.5(PTCH1):c.724_725del (p.Gln242fs) rs2118460945
NM_000264.5(PTCH1):c.725A>G (p.Gln242Arg)
NM_000264.5(PTCH1):c.726G>A (p.Gln242=)
NM_000264.5(PTCH1):c.72G>A (p.Pro24=) rs1387512702
NM_000264.5(PTCH1):c.733A>T (p.Thr245Ser) rs2118460143
NM_000264.5(PTCH1):c.734C>G (p.Thr245Arg) rs1841570436
NM_000264.5(PTCH1):c.73G>A (p.Gly25Arg)
NM_000264.5(PTCH1):c.740_746+1delinsT
NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter) rs1060502281
NM_000264.5(PTCH1):c.741_746+1del rs1554700574
NM_000264.5(PTCH1):c.742C>G (p.Leu248Val)
NM_000264.5(PTCH1):c.742C>T (p.Leu248Phe) rs1841568646
NM_000264.5(PTCH1):c.742dup (p.Leu248fs)
NM_000264.5(PTCH1):c.744C>G (p.Leu248=) rs2118458881
NM_000264.5(PTCH1):c.746+10T>A rs1554700563
NM_000264.5(PTCH1):c.746+11G>A
NM_000264.5(PTCH1):c.746+11G>C rs774992791
NM_000264.5(PTCH1):c.746+12A>T
NM_000264.5(PTCH1):c.746+13T>C rs1014606258
NM_000264.5(PTCH1):c.746+14C>G
NM_000264.5(PTCH1):c.746+1G>A
NM_000264.5(PTCH1):c.746+2T>G rs1841568184
NM_000264.5(PTCH1):c.746+2dup
NM_000264.5(PTCH1):c.746+3A>G rs1841567989
NM_000264.5(PTCH1):c.746+5G>C
NM_000264.5(PTCH1):c.746+6TG[4] rs770615351
NM_000264.5(PTCH1):c.746+9G>A
NM_000264.5(PTCH1):c.746del (p.Leu249fs) rs2118458606
NM_000264.5(PTCH1):c.747-12T>C
NM_000264.5(PTCH1):c.747-14A>G rs373907227
NM_000264.5(PTCH1):c.747-16C>T
NM_000264.5(PTCH1):c.747-17C>G rs1841460679
NM_000264.5(PTCH1):c.747-17C>T
NM_000264.5(PTCH1):c.747-19C>T rs555297981
NM_000264.5(PTCH1):c.747-1G>A rs2118429101
NM_000264.5(PTCH1):c.747-54_1261del
NM_000264.5(PTCH1):c.747-6T>C rs2118429284
NM_000264.5(PTCH1):c.747-9C>G
NM_000264.5(PTCH1):c.747-9del rs1841459388
NM_000264.5(PTCH1):c.748G>A (p.Gly250Ser)
NM_000264.5(PTCH1):c.74G>C (p.Gly25Ala) rs774712511
NM_000264.5(PTCH1):c.74_75delinsAT (p.Gly25Asp) rs1843902347
NM_000264.5(PTCH1):c.751A>G (p.Lys251Glu) rs2118428694
NM_000264.5(PTCH1):c.752A>T (p.Lys251Ile)
NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg) rs1554700016
NM_000264.5(PTCH1):c.756T>A (p.Pro252=) rs2118428399
NM_000264.5(PTCH1):c.758del (p.Pro253fs)
NM_000264.5(PTCH1):c.759T>C (p.Pro253=) rs1588610513
NM_000264.5(PTCH1):c.763C>T (p.Arg255Trp) rs925067209
NM_000264.5(PTCH1):c.764G>T (p.Arg255Leu) rs779870576
NM_000264.5(PTCH1):c.765G>A (p.Arg255=)
NM_000264.5(PTCH1):c.765G>T (p.Arg255=) rs2118427794
NM_000264.5(PTCH1):c.765del (p.Trp256fs) rs2118427859
NM_000264.5(PTCH1):c.766_767del (p.Trp256fs)
NM_000264.5(PTCH1):c.767G>A (p.Trp256Ter) rs1554700010
NM_000264.5(PTCH1):c.768G>A (p.Trp256Ter)
NM_000264.5(PTCH1):c.768del (p.Arg255_Trp256insTer) rs1564055868
NM_000264.5(PTCH1):c.76C>T (p.Arg26Trp) rs1408427240
NM_000264.5(PTCH1):c.771A>G (p.Thr257=) rs2118427410
NM_000264.5(PTCH1):c.772A>G (p.Asn258Asp)
NM_000264.5(PTCH1):c.773del (p.Asn258fs)
NM_000264.5(PTCH1):c.774C>T (p.Asn258=)
NM_000264.5(PTCH1):c.775_778del (p.Phe259fs) rs2118427012
NM_000264.5(PTCH1):c.778G>C (p.Asp260His)
NM_000264.5(PTCH1):c.779A>C (p.Asp260Ala) rs368102115
NM_000264.5(PTCH1):c.780C>T (p.Asp260=) rs2118426797
NM_000264.5(PTCH1):c.781C>G (p.Pro261Ala)
NM_000264.5(PTCH1):c.781C>T (p.Pro261Ser)
NM_000264.5(PTCH1):c.783T>C (p.Pro261=) rs1554699996
NM_000264.5(PTCH1):c.783T>G (p.Pro261=) rs1554699996
NM_000264.5(PTCH1):c.784T>G (p.Leu262Val)
NM_000264.5(PTCH1):c.785T>C (p.Leu262Ser) rs1318134628
NM_000264.5(PTCH1):c.787G>A (p.Glu263Lys) rs1588610385
NM_000264.5(PTCH1):c.78G>A (p.Arg26=) rs771122826
NM_000264.5(PTCH1):c.792C>T (p.Phe264=) rs2118425622
NM_000264.5(PTCH1):c.795G>A (p.Leu265=)
NM_000264.5(PTCH1):c.799G>A (p.Glu267Lys)
NM_000264.5(PTCH1):c.79C>G (p.Pro27Ala) rs1245076183
NM_000264.5(PTCH1):c.79C>T (p.Pro27Ser) rs1245076183
NM_000264.5(PTCH1):c.7T>A (p.Ser3Thr) rs2118910766
NM_000264.5(PTCH1):c.7T>G (p.Ser3Ala) rs2118910766
NM_000264.5(PTCH1):c.806A>G (p.Lys269Arg) rs1841454562
NM_000264.5(PTCH1):c.807G>A (p.Lys269=) rs2118423662
NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer) rs1131690969
NM_000264.5(PTCH1):c.808A>T (p.Lys270Ter) rs1588610324
NM_000264.5(PTCH1):c.811del (p.Lys270_Ile271insTer) rs2118423280
NM_000264.5(PTCH1):c.814A>G (p.Asn272Asp)
NM_000264.5(PTCH1):c.816_852del (p.Asn272fs) rs2118419579
NM_000264.5(PTCH1):c.81G>A (p.Pro27=)
NM_000264.5(PTCH1):c.820C>G (p.Gln274Glu) rs2118422378
NM_000264.5(PTCH1):c.822del (p.Val275fs) rs1554699964
NM_000264.5(PTCH1):c.825G>A (p.Val275=) rs2118421809
NM_000264.5(PTCH1):c.831C>T (p.Ser277=) rs773794742
NM_000264.5(PTCH1):c.832T>C (p.Trp278Arg)
NM_000264.5(PTCH1):c.834G>A (p.Trp278Ter) rs2118420718
NM_000264.5(PTCH1):c.838G>A (p.Glu280Lys)
NM_000264.5(PTCH1):c.838G>T (p.Glu280Ter)
NM_000264.5(PTCH1):c.83C>T (p.Ala28Val) rs1220641430
NM_000264.5(PTCH1):c.841A>G (p.Met281Val) rs2118420301
NM_000264.5(PTCH1):c.842T>C (p.Met281Thr) rs1564055682
NM_000264.5(PTCH1):c.849T>G (p.Asn283Lys)
NM_000264.5(PTCH1):c.84T>A (p.Ala28=)
NM_000264.5(PTCH1):c.84T>G (p.Ala28=) rs1256433959
NM_000264.5(PTCH1):c.850A>C (p.Lys284Gln) rs1841450813
NM_000264.5(PTCH1):c.852G>A (p.Lys284=) rs2118419496
NM_000264.5(PTCH1):c.855T>C (p.Ala285=)
NM_000264.5(PTCH1):c.855T>G (p.Ala285=) rs1060504539
NM_000264.5(PTCH1):c.856G>A (p.Glu286Lys) rs1841450226
NM_000264.5(PTCH1):c.857A>G (p.Glu286Gly)
NM_000264.5(PTCH1):c.85G>A (p.Gly29Arg) rs2118909022
NM_000264.5(PTCH1):c.861T>C (p.Val287=) rs2118418760
NM_000264.5(PTCH1):c.863G>A (p.Gly288Asp)
NM_000264.5(PTCH1):c.864T>C (p.Gly288=)
NM_000264.5(PTCH1):c.866A>G (p.His289Arg)
NM_000264.5(PTCH1):c.867T>C (p.His289=) rs1319404006
NM_000264.5(PTCH1):c.867_868dup (p.Gly290fs) rs2118418344
NM_000264.5(PTCH1):c.868G>A (p.Gly290Ser) rs2118418275
NM_000264.5(PTCH1):c.869G>A (p.Gly290Asp) rs864622130
NM_000264.5(PTCH1):c.86G>A (p.Gly29Glu) rs2118909005
NM_000264.5(PTCH1):c.872A>T (p.Tyr291Phe)
NM_000264.5(PTCH1):c.873C>G (p.Tyr291Ter) rs1564055606
NM_000264.5(PTCH1):c.873del (p.Gly290_Tyr291insTer) rs1564055612
NM_000264.5(PTCH1):c.874A>G (p.Met292Val) rs1588610088
NM_000264.5(PTCH1):c.875T>C (p.Met292Thr) rs748727674
NM_000264.5(PTCH1):c.876G>A (p.Met292Ile) rs776187586
NM_000264.5(PTCH1):c.880C>T (p.Arg294Cys) rs1841447254
NM_000264.5(PTCH1):c.881G>C (p.Arg294Pro) rs878853859
NM_000264.5(PTCH1):c.882C>A (p.Arg294=) rs145893445
NM_000264.5(PTCH1):c.885C>G (p.Pro295=)
NM_000264.5(PTCH1):c.886del (p.Cys296fs) rs1131690987
NM_000264.5(PTCH1):c.889C>T (p.Leu297Phe) rs1841445491
NM_000264.5(PTCH1):c.891C>G (p.Leu297=)
NM_000264.5(PTCH1):c.892A>C (p.Asn298His) rs1588609918
NM_000264.5(PTCH1):c.892A>G (p.Asn298Asp)
NM_000264.5(PTCH1):c.893A>T (p.Asn298Ile)
NM_000264.5(PTCH1):c.896C>A (p.Pro299Gln) rs141939274
NM_000264.5(PTCH1):c.897G>C (p.Pro299=) rs56141639
NM_000264.5(PTCH1):c.898G>T (p.Ala300Ser)
NM_000264.5(PTCH1):c.898del (p.Ala300fs)
NM_000264.5(PTCH1):c.899C>G (p.Ala300Gly)
NM_000264.5(PTCH1):c.8C>G (p.Ser3Trp) rs1587701230
NM_000264.5(PTCH1):c.8C>T (p.Ser3Leu) rs1587701230
NM_000264.5(PTCH1):c.900C>G (p.Ala300=) rs201962105
NM_000264.5(PTCH1):c.901G>T (p.Asp301Tyr) rs767601899
NM_000264.5(PTCH1):c.901_905del (p.Asp301fs)
NM_000264.5(PTCH1):c.903T>C (p.Asp301=)
NM_000264.5(PTCH1):c.904C>G (p.Pro302Ala) rs1197814180
NM_000264.5(PTCH1):c.906A>T (p.Pro302=)
NM_000264.5(PTCH1):c.907G>A (p.Asp303Asn)
NM_000264.5(PTCH1):c.90C>A (p.Gly30=) rs1266520658
NM_000264.5(PTCH1):c.90C>G (p.Gly30=)
NM_000264.5(PTCH1):c.910T>C (p.Cys304Arg)
NM_000264.5(PTCH1):c.912C>A (p.Cys304Ter) rs2118414186
NM_000264.5(PTCH1):c.915del (p.Ala306fs) rs2118413937
NM_000264.5(PTCH1):c.915dup (p.Ala306fs) rs2118413937
NM_000264.5(PTCH1):c.916G>T (p.Ala306Ser)
NM_000264.5(PTCH1):c.919A>G (p.Thr307Ala)
NM_000264.5(PTCH1):c.921A>G (p.Thr307=) rs763339917
NM_000264.5(PTCH1):c.921dup (p.Ala308fs) rs1554699837
NM_000264.5(PTCH1):c.923C>G (p.Ala308Gly) rs2118413122
NM_000264.5(PTCH1):c.927C>A (p.Pro309=)
NM_000264.5(PTCH1):c.929A>G (p.Asn310Ser) rs2118412532
NM_000264.5(PTCH1):c.930C>A (p.Asn310Lys)
NM_000264.5(PTCH1):c.930C>G (p.Asn310Lys)
NM_000264.5(PTCH1):c.937T>G (p.Ser313Ala)
NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter) rs1564055259
NM_000264.5(PTCH1):c.939A>G (p.Ser313=) rs1841439010
NM_000264.5(PTCH1):c.93G>A (p.Gly31=) rs2118908877
NM_000264.5(PTCH1):c.93G>C (p.Gly31=)
NM_000264.5(PTCH1):c.940A>G (p.Thr314Ala) rs2118411651
NM_000264.5(PTCH1):c.941C>A (p.Thr314Asn)
NM_000264.5(PTCH1):c.941_944del (p.Thr314fs)
NM_000264.5(PTCH1):c.943A>G (p.Lys315Glu) rs1564055253
NM_000264.5(PTCH1):c.945+12C>G rs2118409985
NM_000264.5(PTCH1):c.945+19C>A rs538776608
NM_000264.5(PTCH1):c.945+1G>A rs863224444
NM_000264.5(PTCH1):c.945+2T>G
NM_000264.5(PTCH1):c.945+2_945+8delinsCGCT rs1588609559
NM_000264.5(PTCH1):c.945+3G>A rs775144388
NM_000264.5(PTCH1):c.945+3_945+6del rs1064795637
NM_000264.5(PTCH1):c.945+4A>C rs1564055215
NM_000264.5(PTCH1):c.945+5G>C
NM_000264.5(PTCH1):c.945+6dup rs2118410569
NM_000264.5(PTCH1):c.945+8C>G
NM_000264.5(PTCH1):c.945+8C>T
NM_000264.5(PTCH1):c.945+9C>A
NM_000264.5(PTCH1):c.945+9C>G rs878853860
NM_000264.5(PTCH1):c.945del (p.Lys315fs)
NM_000264.5(PTCH1):c.946-11T>A
NM_000264.5(PTCH1):c.946-13C>G
NM_000264.5(PTCH1):c.946-14T>C
NM_000264.5(PTCH1):c.946-14T>G
NM_000264.5(PTCH1):c.946-18G>A rs1447732065
NM_000264.5(PTCH1):c.946-19G>A
NM_000264.5(PTCH1):c.946-5T>A rs1588608882
NM_000264.5(PTCH1):c.946-5T>C rs1588608882
NM_000264.5(PTCH1):c.946-6T>C
NM_000264.5(PTCH1):c.946-7A>T
NM_000264.5(PTCH1):c.946-8T>C rs202011325
NM_000264.5(PTCH1):c.947C>T (p.Pro316Leu) rs143813198
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe) rs1380199153
NM_000264.5(PTCH1):c.94A>G (p.Arg32Gly) rs913603578
NM_000264.5(PTCH1):c.953A>T (p.Asp318Val)
NM_000264.5(PTCH1):c.954T>C (p.Asp318=)
NM_000264.5(PTCH1):c.955_956del (p.Met319fs) rs1841411687
NM_000264.5(PTCH1):c.958G>T (p.Ala320Ser) rs1554699658
NM_000264.5(PTCH1):c.959C>T (p.Ala320Val) rs2118395686
NM_000264.5(PTCH1):c.961del (p.Val322fs) rs1588608794
NM_000264.5(PTCH1):c.963T>C (p.Leu321=) rs1588608777
NM_000264.5(PTCH1):c.964G>A (p.Val322Ile)
NM_000264.5(PTCH1):c.964G>C (p.Val322Leu)
NM_000264.5(PTCH1):c.967T>A (p.Leu323Met) rs1358555059
NM_000264.5(PTCH1):c.96G>A (p.Arg32=) rs2118908815
NM_000264.5(PTCH1):c.970_976del (p.Asn324fs) rs1588608715
NM_000264.5(PTCH1):c.973G>A (p.Gly325Ser) rs1588608738
NM_000264.5(PTCH1):c.978A>C (p.Gly326=)
NM_000264.5(PTCH1):c.978A>T (p.Gly326=) rs2118394366
NM_000264.5(PTCH1):c.97C>T (p.Arg33Cys)
NM_000264.5(PTCH1):c.981T>C (p.Cys327=) rs2118394148
NM_000264.5(PTCH1):c.983A>T (p.His328Leu) rs1484111496
NM_000264.5(PTCH1):c.987C>T (p.Gly329=)
NM_000264.5(PTCH1):c.988T>G (p.Leu330Val) rs1841408486
NM_000264.5(PTCH1):c.992C>G (p.Ser331Cys) rs1841408288
NM_000264.5(PTCH1):c.995G>C (p.Arg332Thr) rs1564054690
NM_000264.5(PTCH1):c.998A>G (p.Lys333Arg)
NM_000264.5(PTCH1):c.998A>T (p.Lys333Met) rs1238175144
NM_000264.5(PTCH1):c.999G>C (p.Lys333Asn)
NM_000264.5(PTCH1):c.99C>T (p.Arg33=) rs2118908759
NM_001083603.3(PTCH1):c.179_180del (p.Lys60fs) rs1447209500
NM_001083603.3(PTCH1):c.198+468G>T rs1445378342
NM_001083603.3(PTCH1):c.4del (p.Glu2fs) rs752765582
NM_001083603.3(PTCH1):c.70_76del (p.Gly24fs)
NM_001083603.3(PTCH1):c.91del (p.Tyr31fs)
NM_001354918.2(PTCH1):c.1347+354_1347+357del
NM_003738.5(PTCH2):c.1007A>G (p.Tyr336Cys)
NM_003738.5(PTCH2):c.1014A>G (p.Thr338=)
NM_003738.5(PTCH2):c.101T>C (p.Leu34Pro)
NM_003738.5(PTCH2):c.1032_1035del (p.Ser344fs)
NM_003738.5(PTCH2):c.1041G>A (p.Gln347=) rs1557646065
NM_003738.5(PTCH2):c.104G>C (p.Trp35Ser)
NM_003738.5(PTCH2):c.1058A>G (p.Gln353Arg)
NM_003738.5(PTCH2):c.1068G>A (p.Gln356=)
NM_003738.5(PTCH2):c.106C>G (p.Leu36Val) rs2148886480
NM_003738.5(PTCH2):c.1072C>T (p.Arg358Cys)
NM_003738.5(PTCH2):c.1078G>C (p.Val360Leu) rs745653597
NM_003738.5(PTCH2):c.1080G>A (p.Val360=) rs11573579
NM_003738.5(PTCH2):c.1083+13A>G
NM_003738.5(PTCH2):c.1083+5G>A rs1653336998
NM_003738.5(PTCH2):c.1083G>C (p.Gln361His) rs2148877935
NM_003738.5(PTCH2):c.1084-14C>T
NM_003738.5(PTCH2):c.1090C>T (p.Gln364Ter) rs1315638429
NM_003738.5(PTCH2):c.1111G>A (p.Ala371Thr) rs201191113
NM_003738.5(PTCH2):c.1111G>C (p.Ala371Pro) rs201191113
NM_003738.5(PTCH2):c.1117C>T (p.Gln373Ter)
NM_003738.5(PTCH2):c.1127A>G (p.His376Arg)
NM_003738.5(PTCH2):c.1142C>T (p.Thr381Ile) rs1653328317
NM_003738.5(PTCH2):c.1167G>A (p.Ala389=)
NM_003738.5(PTCH2):c.116A>T (p.Tyr39Phe) rs746706971
NM_003738.5(PTCH2):c.1172C>T (p.Ser391Phe) rs1553165363
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003738.5(PTCH2):c.1181G>A (p.Ser394Asn)
NM_003738.5(PTCH2):c.1188C>A (p.Ala396=) rs755498723
NM_003738.5(PTCH2):c.1188C>G (p.Ala396=) rs755498723
NM_003738.5(PTCH2):c.1189C>T (p.Arg397Cys)
NM_003738.5(PTCH2):c.1189del (p.Arg397fs) rs778199787
NM_003738.5(PTCH2):c.1191T>A (p.Arg397=)
NM_003738.5(PTCH2):c.1203C>G (p.Gly401=)
NM_003738.5(PTCH2):c.1210C>T (p.Leu404Phe)
NM_003738.5(PTCH2):c.1215+4G>A
NM_003738.5(PTCH2):c.1216-15C>T
NM_003738.5(PTCH2):c.1216-1G>C rs781065537
NM_003738.5(PTCH2):c.1216-5C>G
NM_003738.5(PTCH2):c.1216-5C>T rs375527740
NM_003738.5(PTCH2):c.1216-5dup rs1557645739
NM_003738.5(PTCH2):c.1216-7C>T
NM_003738.5(PTCH2):c.1218G>A (p.Leu406=) rs2148877355
NM_003738.5(PTCH2):c.1233G>A (p.Val411=) rs1653317387
NM_003738.5(PTCH2):c.1247G>A (p.Trp416Ter) rs1573648782
NM_003738.5(PTCH2):c.1254C>T (p.Cys418=)
NM_003738.5(PTCH2):c.126C>T (p.Gly42=) rs771823715
NM_003738.5(PTCH2):c.1275G>T (p.Val425=)
NM_003738.5(PTCH2):c.1285G>A (p.Gly429Arg) rs772212841
NM_003738.5(PTCH2):c.1292T>C (p.Leu431Pro)
NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs) rs1573648653
NM_003738.5(PTCH2):c.1297G>A (p.Val433Met)
NM_003738.5(PTCH2):c.1302_1305delinsACCA (p.Leu435Pro)
NM_003738.5(PTCH2):c.1308G>A (p.Ala436=)
NM_003738.5(PTCH2):c.1309G>A (p.Val437Met)
NM_003738.5(PTCH2):c.1316C>T (p.Ser439Leu)
NM_003738.5(PTCH2):c.1326del (p.Leu443fs) rs755069524
NM_003738.5(PTCH2):c.1335C>A (p.Ala445=)
NM_003738.5(PTCH2):c.1341C>A (p.Leu447=)
NM_003738.5(PTCH2):c.1371+13T>G
NM_003738.5(PTCH2):c.1371+19del
NM_003738.5(PTCH2):c.1372-18G>A
NM_003738.5(PTCH2):c.1372-1G>T
NM_003738.5(PTCH2):c.1379C>A (p.Pro460His)
NM_003738.5(PTCH2):c.1398C>T (p.Ile466=)
NM_003738.5(PTCH2):c.1401C>T (p.Gly467=)
NM_003738.5(PTCH2):c.1402G>A (p.Val468Met)
NM_003738.5(PTCH2):c.1410C>T (p.Asp470=)
NM_003738.5(PTCH2):c.1416C>G (p.Phe472Leu)
NM_003738.5(PTCH2):c.1417del (p.Leu473fs) rs1653297701
NM_003738.5(PTCH2):c.1422G>A (p.Leu474=)
NM_003738.5(PTCH2):c.1424C>A (p.Ala475Glu)
NM_003738.5(PTCH2):c.1427A>G (p.His476Arg) rs1653296842
NM_003738.5(PTCH2):c.1448C>T (p.Pro483Leu) rs2148876862
NM_003738.5(PTCH2):c.1464+10T>C
NM_003738.5(PTCH2):c.1464+10T>G
NM_003738.5(PTCH2):c.1464+14C>T
NM_003738.5(PTCH2):c.1464+16C>T
NM_003738.5(PTCH2):c.1464+19G>C
NM_003738.5(PTCH2):c.1464+8_1464+17del rs935055233
NM_003738.5(PTCH2):c.1465-1G>A
NM_003738.5(PTCH2):c.1468C>T (p.Arg490Cys)
NM_003738.5(PTCH2):c.1475G>T (p.Gly492Val) rs1653276978
NM_003738.5(PTCH2):c.1477G>A (p.Glu493Lys) rs11573581
NM_003738.5(PTCH2):c.1496G>A (p.Gly499Asp)
NM_003738.5(PTCH2):c.1506C>G (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1506C>T (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1512C>G (p.Leu504=)
NM_003738.5(PTCH2):c.1517C>A (p.Ser506Tyr) rs1322200411
NM_003738.5(PTCH2):c.1523A>G (p.Asn508Ser)
NM_003738.5(PTCH2):c.1524del (p.Asn508fs)
NM_003738.5(PTCH2):c.1526dup (p.Asn509fs) rs1329842135
NM_003738.5(PTCH2):c.1527C>T (p.Asn509=)
NM_003738.5(PTCH2):c.1531G>A (p.Ala511Thr)
NM_003738.5(PTCH2):c.1543A>G (p.Met515Val)
NM_003738.5(PTCH2):c.1558C>A (p.Pro520Thr) rs1382444662
NM_003738.5(PTCH2):c.1565C>T (p.Pro522Leu)
NM_003738.5(PTCH2):c.1566T>C (p.Pro522=)
NM_003738.5(PTCH2):c.1568dup (p.Leu524fs)
NM_003738.5(PTCH2):c.1569G>T (p.Ala523=) rs143390610
NM_003738.5(PTCH2):c.1590+11T>C
NM_003738.5(PTCH2):c.1590+11T>G
NM_003738.5(PTCH2):c.1590+17G>A rs753968565
NM_003738.5(PTCH2):c.1590+8C>T
NM_003738.5(PTCH2):c.1591-15C>T
NM_003738.5(PTCH2):c.1591-5C>A
NM_003738.5(PTCH2):c.1591-5C>G
NM_003738.5(PTCH2):c.1591-6C>A
NM_003738.5(PTCH2):c.1591-8T>A
NM_003738.5(PTCH2):c.1593G>T (p.Ala531=)
NM_003738.5(PTCH2):c.1614C>A (p.Thr538=) rs1478954517
NM_003738.5(PTCH2):c.1621G>T (p.Ala541Ser) rs778833779
NM_003738.5(PTCH2):c.1622C>T (p.Ala541Val)
NM_003738.5(PTCH2):c.1652G>T (p.Ser551Ile)
NM_003738.5(PTCH2):c.1669C>T (p.Arg557Cys)
NM_003738.5(PTCH2):c.1670G>A (p.Arg557His)
NM_003738.5(PTCH2):c.1685_1709+14dup
NM_003738.5(PTCH2):c.1709+10G>A
NM_003738.5(PTCH2):c.1709+11C>T
NM_003738.5(PTCH2):c.1709+12G>A rs369351238
NM_003738.5(PTCH2):c.1709+12G>C
NM_003738.5(PTCH2):c.1710-15C>G
NM_003738.5(PTCH2):c.1710-16T>A
NM_003738.5(PTCH2):c.1716del (p.Ser573fs)
NM_003738.5(PTCH2):c.1725G>A (p.Gln575=)
NM_003738.5(PTCH2):c.1726G>A (p.Val576Met) rs867905557
NM_003738.5(PTCH2):c.172G>C (p.Val58Leu)
NM_003738.5(PTCH2):c.1737C>G (p.Ile579Met) rs2148876037
NM_003738.5(PTCH2):c.1753G>C (p.Gly585Arg)
NM_003738.5(PTCH2):c.175C>A (p.Leu59Ile) rs1653965168
NM_003738.5(PTCH2):c.1761G>A (p.Gly587=)
NM_003738.5(PTCH2):c.1761G>T (p.Gly587=)
NM_003738.5(PTCH2):c.1763C>T (p.Thr588Ile)
NM_003738.5(PTCH2):c.1785C>T (p.His595=) rs905892751
NM_003738.5(PTCH2):c.1786C>G (p.Leu596Val) rs2148875992
NM_003738.5(PTCH2):c.1795A>G (p.Thr599Ala)
NM_003738.5(PTCH2):c.1816T>C (p.Cys606Arg) rs2148875968
NM_003738.5(PTCH2):c.1829G>T (p.Ser610Ile) rs2148875950
NM_003738.5(PTCH2):c.1835A>C (p.His612Pro)
NM_003738.5(PTCH2):c.1839G>A (p.Val613=) rs2148875942
NM_003738.5(PTCH2):c.1840G>T (p.Val614Phe) rs1653244164
NM_003738.5(PTCH2):c.1853C>T (p.Pro618Leu)
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn) rs11573586
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr) rs11573586
NM_003738.5(PTCH2):c.1927C>T (p.Arg643Trp)
NM_003738.5(PTCH2):c.1928G>A (p.Arg643Gln)
NM_003738.5(PTCH2):c.1930_1931insGGGGGGG (p.Asp644fs)
NM_003738.5(PTCH2):c.1932C>A (p.Asp644Glu)
NM_003738.5(PTCH2):c.1933C>T (p.Leu645Phe) rs1557644727
NM_003738.5(PTCH2):c.1940G>A (p.Gly647Asp)
NM_003738.5(PTCH2):c.1950G>A (p.Glu650=)
NM_003738.5(PTCH2):c.195C>T (p.Ala65=)
NM_003738.5(PTCH2):c.1987T>C (p.Cys663Arg) rs775286824
NM_003738.5(PTCH2):c.1993C>G (p.Arg665Gly)
NM_003738.5(PTCH2):c.19C>T (p.Leu7Phe) rs1030456781
NM_003738.5(PTCH2):c.200G>C (p.Gly67Ala)
NM_003738.5(PTCH2):c.2018G>A (p.Arg673His) rs760548568
NM_003738.5(PTCH2):c.2018G>T (p.Arg673Leu) rs760548568
NM_003738.5(PTCH2):c.2019del (p.Tyr674fs)
NM_003738.5(PTCH2):c.2029G>C (p.Ala677Pro) rs1557644638
NM_003738.5(PTCH2):c.202G>A (p.Ala68Thr)
NM_003738.5(PTCH2):c.2033_2054dup (p.Lys686fs) rs1653233688
NM_003738.5(PTCH2):c.2034G>A (p.Pro678=) rs767584655
NM_003738.5(PTCH2):c.2048C>T (p.Ser683Leu)
NM_003738.5(PTCH2):c.204C>T (p.Ala68=)
NM_003738.5(PTCH2):c.2055_2056delinsCG (p.Lys686Glu)
NM_003738.5(PTCH2):c.2058+11G>A rs1268729354
NM_003738.5(PTCH2):c.2059G>T (p.Ala687Ser) rs2148875596
NM_003738.5(PTCH2):c.2074C>T (p.Leu692Phe)
NM_003738.5(PTCH2):c.2107G>A (p.Gly703Arg)
NM_003738.5(PTCH2):c.2148G>A (p.Val716=)
NM_003738.5(PTCH2):c.215G>A (p.Gly72Asp)
NM_003738.5(PTCH2):c.2162C>T (p.Thr721Ile) rs1653221535
NM_003738.5(PTCH2):c.2166G>A (p.Lys722=) rs1229094126
NM_003738.5(PTCH2):c.2174C>G (p.Ala725Gly) rs1243955468
NM_003738.5(PTCH2):c.2177T>C (p.Phe726Ser)
NM_003738.5(PTCH2):c.2178C>A (p.Phe726Leu) rs1573645770
NM_003738.5(PTCH2):c.2180T>G (p.Leu727Arg) rs2148875486
NM_003738.5(PTCH2):c.2185G>A (p.Ala729Thr) rs765415578
NM_003738.5(PTCH2):c.2185G>T (p.Ala729Ser)
NM_003738.5(PTCH2):c.21C>G (p.Leu7=)
NM_003738.5(PTCH2):c.2206C>T (p.Leu736=)
NM_003738.5(PTCH2):c.2208G>A (p.Leu736=)
NM_003738.5(PTCH2):c.220C>T (p.Arg74Cys)
NM_003738.5(PTCH2):c.2214G>A (p.Glu738=)
NM_003738.5(PTCH2):c.2217G>A (p.Val739=)
NM_003738.5(PTCH2):c.2247C>A (p.Tyr749Ter) rs779837932
NM_003738.5(PTCH2):c.2252A>T (p.His751Leu)
NM_003738.5(PTCH2):c.2257del (p.Gln753fs) rs1653215847
NM_003738.5(PTCH2):c.2260C>A (p.Arg754Ser)
NM_003738.5(PTCH2):c.2263G>C (p.Ala755Pro)
NM_003738.5(PTCH2):c.2275C>A (p.Leu759Met) rs2148875383
NM_003738.5(PTCH2):c.2276T>A (p.Leu759Gln) rs2148875381
NM_003738.5(PTCH2):c.2290A>G (p.Ser764Gly) rs769359308
NM_003738.5(PTCH2):c.2308C>A (p.Leu770Met)
NM_003738.5(PTCH2):c.2312C>A (p.Pro771His)
NM_003738.5(PTCH2):c.2312C>T (p.Pro771Leu)
NM_003738.5(PTCH2):c.2318C>T (p.Pro773Leu) rs1404906503
NM_003738.5(PTCH2):c.2335C>G (p.Arg779Gly) rs745750666
NM_003738.5(PTCH2):c.2335C>T (p.Arg779Cys)
NM_003738.5(PTCH2):c.2336G>A (p.Arg779His) rs45493198
NM_003738.5(PTCH2):c.2336G>C (p.Arg779Pro)
NM_003738.5(PTCH2):c.2354A>G (p.Tyr785Cys)
NM_003738.5(PTCH2):c.2361C>G (p.Asn787Lys) rs1573645402
NM_003738.5(PTCH2):c.2366T>C (p.Leu789Pro)
NM_003738.5(PTCH2):c.236A>C (p.Glu79Ala)
NM_003738.5(PTCH2):c.2370G>A (p.Gln790=)
NM_003738.5(PTCH2):c.2371+19G>A
NM_003738.5(PTCH2):c.2372-14C>T rs1243405696
NM_003738.5(PTCH2):c.2372G>A (p.Gly791Glu) rs1653198432
NM_003738.5(PTCH2):c.2376C>T (p.Ile792=)
NM_003738.5(PTCH2):c.2379G>C (p.Gln793His)
NM_003738.5(PTCH2):c.2381C>G (p.Ala794Gly)
NM_003738.5(PTCH2):c.2411G>A (p.Arg804His) rs770837969
NM_003738.5(PTCH2):c.2416A>G (p.Thr806Ala)
NM_003738.5(PTCH2):c.2417C>A (p.Thr806Asn) rs139683072
NM_003738.5(PTCH2):c.2426C>T (p.Ser809Leu)
NM_003738.5(PTCH2):c.2427G>A (p.Ser809=)
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=) rs111471526
NM_003738.5(PTCH2):c.2432G>T (p.Arg811Leu) rs112613379
NM_003738.5(PTCH2):c.2435A>G (p.Asn812Ser) rs1218095612
NM_003738.5(PTCH2):c.246G>T (p.Leu82Phe) rs1182782050
NM_003738.5(PTCH2):c.2472C>A (p.Leu824=) rs377186488
NM_003738.5(PTCH2):c.2479A>T (p.Thr827Ser)
NM_003738.5(PTCH2):c.2483G>C (p.Gly828Ala) rs761925367
NM_003738.5(PTCH2):c.2486_2487delinsTT (p.Asp829Val) rs1553165053
NM_003738.5(PTCH2):c.2487C>A (p.Asp829Glu) rs2295996
NM_003738.5(PTCH2):c.2488G>A (p.Ala830Thr)
NM_003738.5(PTCH2):c.2508C>T (p.Phe836=) rs1267534771
NM_003738.5(PTCH2):c.250C>G (p.Gln84Glu)
NM_003738.5(PTCH2):c.2510_2511delinsTT (p.Ser837Ile)
NM_003738.5(PTCH2):c.2514+12G>C
NM_003738.5(PTCH2):c.2514+14T>C
NM_003738.5(PTCH2):c.253C>T (p.Leu85Phe)
NM_003738.5(PTCH2):c.2540G>A (p.Arg847Lys) rs2148874807
NM_003738.5(PTCH2):c.2542G>A (p.Glu848Lys)
NM_003738.5(PTCH2):c.2553dup (p.Pro852fs)
NM_003738.5(PTCH2):c.2560G>A (p.Glu854Lys)
NM_003738.5(PTCH2):c.2572A>G (p.Met858Val)
NM_003738.5(PTCH2):c.2572A>T (p.Met858Leu) rs374498312
NM_003738.5(PTCH2):c.2576G>A (p.Gly859Glu)
NM_003738.5(PTCH2):c.2580G>A (p.Leu860=)
NM_003738.5(PTCH2):c.2582C>G (p.Thr861Ser) rs1452021020
NM_003738.5(PTCH2):c.2582C>T (p.Thr861Ile)
NM_003738.5(PTCH2):c.2584G>C (p.Val862Leu)
NM_003738.5(PTCH2):c.2592G>A (p.Val864=) rs764151806
NM_003738.5(PTCH2):c.2602C>A (p.Pro868Thr) rs1377075089
NM_003738.5(PTCH2):c.2605C>G (p.Leu869Val)
NM_003738.5(PTCH2):c.2605dup (p.Leu869fs) rs1553165035
NM_003738.5(PTCH2):c.2616A>C (p.Ala872=) rs2148874682
NM_003738.5(PTCH2):c.2640C>A (p.Pro880=) rs560873168
NM_003738.5(PTCH2):c.2642C>G (p.Pro881Arg)
NM_003738.5(PTCH2):c.2642C>T (p.Pro881Leu)
NM_003738.5(PTCH2):c.2642dup (p.Pro882fs) rs1337855606
NM_003738.5(PTCH2):c.2646T>C (p.Pro882=) rs2148874628
NM_003738.5(PTCH2):c.2651A>G (p.Glu884Gly)
NM_003738.5(PTCH2):c.266-16_266-15del rs756782903
NM_003738.5(PTCH2):c.2665_2666insTTCAGGGG (p.Lys889fs) rs2148874605
NM_003738.5(PTCH2):c.2668T>C (p.Tyr890His)
NM_003738.5(PTCH2):c.266T>C (p.Val89Ala) rs752129680
NM_003738.5(PTCH2):c.2671G>A (p.Asp891Asn)
NM_003738.5(PTCH2):c.2673C>T (p.Asp891=) rs370224493
NM_003738.5(PTCH2):c.2695+10G>A
NM_003738.5(PTCH2):c.2695+10G>T rs1400035505
NM_003738.5(PTCH2):c.2695+11G>A
NM_003738.5(PTCH2):c.2695+11G>C rs373843383
NM_003738.5(PTCH2):c.2695+11G>T
NM_003738.5(PTCH2):c.2695+8T>G
NM_003738.5(PTCH2):c.2695+9del
NM_003738.5(PTCH2):c.2696-13C>T
NM_003738.5(PTCH2):c.2696-9C>T
NM_003738.5(PTCH2):c.2699C>T (p.Pro900Leu)
NM_003738.5(PTCH2):c.2700G>A (p.Pro900=) rs200437527
NM_003738.5(PTCH2):c.2700G>T (p.Pro900=) rs200437527
NM_003738.5(PTCH2):c.2711C>T (p.Pro904Leu)
NM_003738.5(PTCH2):c.2728T>A (p.Phe910Ile) rs2148874300
NM_003738.5(PTCH2):c.2744G>A (p.Arg915His)
NM_003738.5(PTCH2):c.2745T>A (p.Arg915=)
NM_003738.5(PTCH2):c.274C>T (p.Arg92Trp)
NM_003738.5(PTCH2):c.2754G>C (p.Gln918His) rs2148874271
NM_003738.5(PTCH2):c.277G>C (p.Val93Leu) rs145784624
NM_003738.5(PTCH2):c.2788G>A (p.Ala930Thr)
NM_003738.5(PTCH2):c.2791C>T (p.Arg931Trp)
NM_003738.5(PTCH2):c.2802C>T (p.Cys934=)
NM_003738.5(PTCH2):c.2841C>T (p.Ser947=)
NM_003738.5(PTCH2):c.2842G>A (p.Gly948Ser)
NM_003738.5(PTCH2):c.2845_2846delinsAA (p.Ser949Asn)
NM_003738.5(PTCH2):c.2849C>T (p.Pro950Leu)
NM_003738.5(PTCH2):c.2850C>A (p.Pro950=) rs1553164952
NM_003738.5(PTCH2):c.2854C>G (p.Leu952Val)
NM_003738.5(PTCH2):c.2877C>A (p.Gly959=)
NM_003738.5(PTCH2):c.287A>T (p.Glu96Val)
NM_003738.5(PTCH2):c.2881C>T (p.Arg961Trp)
NM_003738.5(PTCH2):c.2885G>A (p.Arg962His)
NM_003738.5(PTCH2):c.2893del (p.Leu965fs)
NM_003738.5(PTCH2):c.2901C>G (p.Ala967=) rs371861016
NM_003738.5(PTCH2):c.2908A>G (p.Ile970Val)
NM_003738.5(PTCH2):c.2922C>T (p.Cys974=) rs1195101516
NM_003738.5(PTCH2):c.2925_2926insGCT (p.Thr975_Phe976insAla) rs1459615294
NM_003738.5(PTCH2):c.2927T>C (p.Phe976Ser) rs2148874033
NM_003738.5(PTCH2):c.2944_2945delinsGG (p.Leu982Gly) rs2148874009
NM_003738.5(PTCH2):c.2950C>T (p.Leu984Phe)
NM_003738.5(PTCH2):c.2952C>T (p.Leu984=) rs755598335
NM_003738.5(PTCH2):c.2969G>A (p.Gly990Asp)
NM_003738.5(PTCH2):c.2976+14G>A
NM_003738.5(PTCH2):c.2976+1G>A
NM_003738.5(PTCH2):c.2977-2A>G
NM_003738.5(PTCH2):c.2977-5C>A rs950394831
NM_003738.5(PTCH2):c.2996T>C (p.Met999Thr) rs149189451
NM_003738.5(PTCH2):c.3010T>C (p.Phe1004Leu)
NM_003738.5(PTCH2):c.3011_3012del (p.Phe1004fs) rs2148873780
NM_003738.5(PTCH2):c.3020T>C (p.Met1007Thr) rs973768191
NM_003738.5(PTCH2):c.3041T>A (p.Leu1014Gln)
NM_003738.5(PTCH2):c.3042G>C (p.Leu1014=) rs371828594
NM_003738.5(PTCH2):c.3042G>T (p.Leu1014=)
NM_003738.5(PTCH2):c.3083T>C (p.Ile1028Thr) rs371907442
NM_003738.5(PTCH2):c.3088G>A (p.Val1030Ile)
NM_003738.5(PTCH2):c.308A>C (p.Lys103Thr)
NM_003738.5(PTCH2):c.3106G>A (p.Val1036Met)
NM_003738.5(PTCH2):c.3107T>G (p.Val1036Gly) rs1653137067
NM_003738.5(PTCH2):c.3114+17C>T
NM_003738.5(PTCH2):c.3114+20G>A
NM_003738.5(PTCH2):c.3114+9G>A rs181508787
NM_003738.5(PTCH2):c.3114+9G>C rs181508787
NM_003738.5(PTCH2):c.3115-14C>T
NM_003738.5(PTCH2):c.3128C>T (p.Thr1043Ile)
NM_003738.5(PTCH2):c.313G>A (p.Gly105Arg)
NM_003738.5(PTCH2):c.3140G>A (p.Arg1047Gln)
NM_003738.5(PTCH2):c.3147G>T (p.Leu1049=)
NM_003738.5(PTCH2):c.3149G>A (p.Arg1050Gln) rs761953363
NM_003738.5(PTCH2):c.3153C>T (p.Ala1051=)
NM_003738.5(PTCH2):c.3158A>G (p.His1053Arg) rs1573639533
NM_003738.5(PTCH2):c.3161C>A (p.Ala1054Asp)
NM_003738.5(PTCH2):c.3174A>G (p.Thr1058=)
NM_003738.5(PTCH2):c.3182C>T (p.Pro1061Leu)
NM_003738.5(PTCH2):c.31C>T (p.Pro11Ser) rs1573666565
NM_003738.5(PTCH2):c.3246C>T (p.Asp1082=)
NM_003738.5(PTCH2):c.3257+15G>A
NM_003738.5(PTCH2):c.3258-16C>G rs778795322
NM_003738.5(PTCH2):c.3258-16del
NM_003738.5(PTCH2):c.3258-17C>G
NM_003738.5(PTCH2):c.3258-5_3258-3delinsTAGTACCTAGG rs1652986505
NM_003738.5(PTCH2):c.3258-6_3258-5insTAGTA
NM_003738.5(PTCH2):c.3258-7C>A
NM_003738.5(PTCH2):c.3258G>C (p.Arg1086Ser) rs908352571
NM_003738.5(PTCH2):c.3270G>C (p.Ala1090=) rs752886480
NM_003738.5(PTCH2):c.3272C>A (p.Ala1091Glu)
NM_003738.5(PTCH2):c.3272C>T (p.Ala1091Val) rs369600860
NM_003738.5(PTCH2):c.3273G>A (p.Ala1091=)
NM_003738.5(PTCH2):c.3284T>C (p.Leu1095Pro) rs1379984001
NM_003738.5(PTCH2):c.3286A>G (p.Thr1096Ala)
NM_003738.5(PTCH2):c.3286dup (p.Thr1096fs) rs1652984337
NM_003738.5(PTCH2):c.3291C>G (p.Leu1097=) rs770373024
NM_003738.5(PTCH2):c.3294G>A (p.Leu1098=)
NM_003738.5(PTCH2):c.3301C>T (p.Leu1101Phe)
NM_003738.5(PTCH2):c.3312C>G (p.Leu1104=) rs771498770
NM_003738.5(PTCH2):c.3313G>A (p.Val1105Met)
NM_003738.5(PTCH2):c.3314TGC[4] (p.Leu1107dup) rs2148871672
NM_003738.5(PTCH2):c.3329T>C (p.Leu1110Pro)
NM_003738.5(PTCH2):c.3339C>A (p.Ile1113=)
NM_003738.5(PTCH2):c.3352C>T (p.Pro1118Ser)
NM_003738.5(PTCH2):c.3357+15G>A rs377239356
NM_003738.5(PTCH2):c.3357+15G>C
NM_003738.5(PTCH2):c.3357+16G>A rs1652977886
NM_003738.5(PTCH2):c.3358-11_3358-9dup rs1240860649
NM_003738.5(PTCH2):c.3358-14G>T rs2148871348
NM_003738.5(PTCH2):c.3358-3C>T
NM_003738.5(PTCH2):c.335C>T (p.Ser112Phe)
NM_003738.5(PTCH2):c.3373A>G (p.Lys1125Glu)
NM_003738.5(PTCH2):c.3382C>T (p.Pro1128Ser)
NM_003738.5(PTCH2):c.3392T>C (p.Leu1131Pro) rs1463079757
NM_003738.5(PTCH2):c.3403del (p.Ala1135fs)
NM_003738.5(PTCH2):c.3410A>C (p.Gln1137Pro) rs1652957871
NM_003738.5(PTCH2):c.3410A>G (p.Gln1137Arg) rs1652957871
NM_003738.5(PTCH2):c.3413G>A (p.Gly1138Glu)
NM_003738.5(PTCH2):c.3416G>C (p.Gly1139Ala)
NM_003738.5(PTCH2):c.3427T>G (p.Trp1143Gly) rs1573638370
NM_003738.5(PTCH2):c.3430G>A (p.Gly1144Arg)
NM_003738.5(PTCH2):c.3433G>A (p.Ala1145Thr)
NM_003738.5(PTCH2):c.3454A>G (p.Ser1152Gly) rs772146260
NM_003738.5(PTCH2):c.3456C>T (p.Ser1152=) rs1573638322
NM_003738.5(PTCH2):c.345G>A (p.Leu115=)
NM_003738.5(PTCH2):c.3468G>A (p.Val1156=)
NM_003738.5(PTCH2):c.3473C>T (p.Thr1158Ile)
NM_003738.5(PTCH2):c.3477C>T (p.Ser1159=)
NM_003738.5(PTCH2):c.3479T>C (p.Met1160Thr) rs576908403
NM_003738.5(PTCH2):c.3487G>A (p.Ala1163Thr)
NM_003738.5(PTCH2):c.3504C>A (p.Pro1168=) rs372865581
NM_003738.5(PTCH2):c.3504C>G (p.Pro1168=) rs372865581
NM_003738.5(PTCH2):c.3505del (p.Leu1169fs) rs763413121
NM_003738.5(PTCH2):c.3505dup (p.Leu1169fs)
NM_003738.5(PTCH2):c.3524A>G (p.His1175Arg)
NM_003738.5(PTCH2):c.3529G>T (p.Ala1177Ser)
NM_003738.5(PTCH2):c.3539_3542dup (p.Pro1182fs) rs2148871039
NM_003738.5(PTCH2):c.354C>A (p.Thr118=)
NM_003738.5(PTCH2):c.354C>T (p.Thr118=)
NM_003738.5(PTCH2):c.3553C>T (p.Pro1185Ser) rs1162501288
NM_003738.5(PTCH2):c.355G>A (p.Ala119Thr)
NM_003738.5(PTCH2):c.3564T>A (p.Thr1188=) rs1652948807
NM_003738.5(PTCH2):c.3580A>C (p.Ser1194Arg)
NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe)
NM_003738.5(PTCH2):c.358C>T (p.Arg120Cys)
NM_003738.5(PTCH2):c.3590del (p.Gly1197fs)
NM_003738.5(PTCH2):c.3596G>A (p.Gly1199Asp)
NM_003738.5(PTCH2):c.359G>A (p.Arg120His)
NM_003738.5(PTCH2):c.359G>T (p.Arg120Leu) rs200617096
NM_003738.5(PTCH2):c.3601G>C (p.Ala1201Pro)
NM_003738.5(PTCH2):c.375C>T (p.Asn125=)
NM_003738.5(PTCH2):c.386C>T (p.Pro129Leu) rs1421459206
NM_003738.5(PTCH2):c.387C>G (p.Pro129=)
NM_003738.5(PTCH2):c.38G>A (p.Ser13Asn) rs1654018544
NM_003738.5(PTCH2):c.390dup (p.Ala131fs) rs756226400
NM_003738.5(PTCH2):c.395T>C (p.Leu132Pro)
NM_003738.5(PTCH2):c.400C>T (p.Leu134Phe)
NM_003738.5(PTCH2):c.403C>A (p.His135Asn) rs1573653288
NM_003738.5(PTCH2):c.406C>T (p.Leu136Phe)
NM_003738.5(PTCH2):c.450T>C (p.Tyr150=) rs138866688
NM_003738.5(PTCH2):c.455+16C>A
NM_003738.5(PTCH2):c.455+16C>T
NM_003738.5(PTCH2):c.456-18T>C
NM_003738.5(PTCH2):c.456-1G>T
NM_003738.5(PTCH2):c.484A>G (p.Lys162Glu)
NM_003738.5(PTCH2):c.497C>T (p.Pro166Leu)
NM_003738.5(PTCH2):c.50del (p.Pro17fs) rs1654017720
NM_003738.5(PTCH2):c.515T>C (p.Met172Thr)
NM_003738.5(PTCH2):c.516G>A (p.Met172Ile) rs765585001
NM_003738.5(PTCH2):c.524G>T (p.Arg175Leu) rs745322399
NM_003738.5(PTCH2):c.525+11T>C
NM_003738.5(PTCH2):c.525+3A>G
NM_003738.5(PTCH2):c.525+6T>C
NM_003738.5(PTCH2):c.525+6T>G
NM_003738.5(PTCH2):c.526-16G>C
NM_003738.5(PTCH2):c.526-17C>T
NM_003738.5(PTCH2):c.526-8C>T
NM_003738.5(PTCH2):c.527T>G (p.Met176Arg) rs571129554
NM_003738.5(PTCH2):c.528G>A (p.Met176Ile)
NM_003738.5(PTCH2):c.533_548del (p.Glu178fs) rs1573652573
NM_003738.5(PTCH2):c.549C>T (p.Cys183=)
NM_003738.5(PTCH2):c.554T>C (p.Ile185Thr)
NM_003738.5(PTCH2):c.561C>T (p.Thr187=) rs1302639760
NM_003738.5(PTCH2):c.563C>A (p.Pro188His) rs372784104
NM_003738.5(PTCH2):c.563C>G (p.Pro188Arg)
NM_003738.5(PTCH2):c.564C>G (p.Pro188=) rs1328109024
NM_003738.5(PTCH2):c.564C>T (p.Pro188=)
NM_003738.5(PTCH2):c.565del (p.Leu189fs)
NM_003738.5(PTCH2):c.586del (p.Ala196fs)
NM_003738.5(PTCH2):c.607G>A (p.Ala203Thr)
NM_003738.5(PTCH2):c.618-6C>A rs924268501
NM_003738.5(PTCH2):c.618-6C>T rs924268501
NM_003738.5(PTCH2):c.619G>T (p.Gly207Cys)
NM_003738.5(PTCH2):c.61G>A (p.Ala21Thr)
NM_003738.5(PTCH2):c.621C>T (p.Gly207=)
NM_003738.5(PTCH2):c.626C>T (p.Pro209Leu) rs372348401
NM_003738.5(PTCH2):c.632T>A (p.Ile211Asn) rs2148879284
NM_003738.5(PTCH2):c.639del (p.Gln212_Trp213insTer) rs1653421669
NM_003738.5(PTCH2):c.659dup (p.Leu221fs)
NM_003738.5(PTCH2):c.65C>A (p.Ala22Glu) rs1654015404
NM_003738.5(PTCH2):c.665T>G (p.Leu222Arg) rs754175246
NM_003738.5(PTCH2):c.668A>G (p.Glu223Gly) rs1393241791
NM_003738.5(PTCH2):c.680C>T (p.Pro227Leu)
NM_003738.5(PTCH2):c.718A>G (p.Lys240Glu) rs2148879183
NM_003738.5(PTCH2):c.72+14G>A rs202169933
NM_003738.5(PTCH2):c.72+5G>T rs1417599434
NM_003738.5(PTCH2):c.72+8G>A rs1654014801
NM_003738.5(PTCH2):c.73-10T>C rs2148886533
NM_003738.5(PTCH2):c.73-19C>G
NM_003738.5(PTCH2):c.732C>T (p.Gly244=)
NM_003738.5(PTCH2):c.738C>G (p.Ala246=) rs58079936
NM_003738.5(PTCH2):c.748C>T (p.Arg250Trp)
NM_003738.5(PTCH2):c.749G>A (p.Arg250Gln)
NM_003738.5(PTCH2):c.773_775del (p.Leu258del) rs1173101594
NM_003738.5(PTCH2):c.777C>T (p.His259=)
NM_003738.5(PTCH2):c.783A>G (p.Pro261=) rs1553165531
NM_003738.5(PTCH2):c.788G>A (p.Ser263Asn) rs77102909
NM_003738.5(PTCH2):c.788G>C (p.Ser263Thr) rs77102909
NM_003738.5(PTCH2):c.791C>A (p.Ala264Asp) rs1653415175
NM_003738.5(PTCH2):c.800A>G (p.His267Arg) rs2148879096
NM_003738.5(PTCH2):c.801T>C (p.His267=) rs2148879093
NM_003738.5(PTCH2):c.811dup (p.Gln271fs) rs1653413924
NM_003738.5(PTCH2):c.813+10A>C
NM_003738.5(PTCH2):c.813+17del
NM_003738.5(PTCH2):c.814-18C>T
NM_003738.5(PTCH2):c.814-4C>A
NM_003738.5(PTCH2):c.815C>T (p.Ala272Val)
NM_003738.5(PTCH2):c.839G>C (p.Ser280Thr)
NM_003738.5(PTCH2):c.843G>A (p.Gly281=)
NM_003738.5(PTCH2):c.850C>A (p.His284Asn) rs1553165436
NM_003738.5(PTCH2):c.853G>C (p.Gly285Arg)
NM_003738.5(PTCH2):c.858C>A (p.Phe286Leu) rs759340277
NM_003738.5(PTCH2):c.860C>A (p.Ser287Tyr) rs1458470156
NM_003738.5(PTCH2):c.873G>T (p.Met291Ile)
NM_003738.5(PTCH2):c.88C>G (p.Leu30Val)
NM_003738.5(PTCH2):c.891G>A (p.Leu297=) rs2148878347
NM_003738.5(PTCH2):c.905T>G (p.Met302Arg)
NM_003738.5(PTCH2):c.909C>T (p.Ala303=) rs1653356113
NM_003738.5(PTCH2):c.933G>C (p.Leu311=) rs966857361
NM_003738.5(PTCH2):c.935G>A (p.Arg312Lys) rs1653355659
NM_003738.5(PTCH2):c.936-10C>T
NM_003738.5(PTCH2):c.936-12C>T
NM_003738.5(PTCH2):c.936-17T>C
NM_003738.5(PTCH2):c.936-18C>T
NM_003738.5(PTCH2):c.936-1G>A
NM_003738.5(PTCH2):c.936-4C>T rs1553165423
NM_003738.5(PTCH2):c.939_946del (p.Glu314fs) rs2148878116
NM_003738.5(PTCH2):c.940G>C (p.Glu314Gln)
NM_003738.5(PTCH2):c.944C>T (p.Ala315Val)
NM_003738.5(PTCH2):c.957C>T (p.Thr319=)
NM_003738.5(PTCH2):c.969G>A (p.Met323Ile)
NM_003738.5(PTCH2):c.976C>T (p.Arg326Cys)
NM_003738.5(PTCH2):c.97C>G (p.Pro33Ala) rs1553166486
NM_003738.5(PTCH2):c.991C>T (p.His331Tyr)
NM_016169.4(SUFU):c.1022+1G>A rs587776578
NM_016169.4(SUFU):c.1022dup (p.Ser342fs) rs2135889249
NM_016169.4(SUFU):c.1023-3C>T rs550262133
NM_016169.4(SUFU):c.1147_1150del (p.Leu383fs)
NM_016169.4(SUFU):c.1296+1635C>A rs975490066
NM_016169.4(SUFU):c.160del (p.Val54fs) rs2135598717
NM_016169.4(SUFU):c.37A>C (p.Thr13Pro) rs1456048322
NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del) rs1589969829

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