ClinVar Miner

List of variants in gene PTCH1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 1829
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.*2276A>T rs868749157 0.00625
NM_000264.5(PTCH1):c.*1132G>A rs572803728 0.00083
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_000264.5(PTCH1):c.*1896T>C rs949498288 0.00064
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
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.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000264.5(PTCH1):c.*3337T>C rs551093780 0.00032
NM_000264.5(PTCH1):c.*478A>G rs937053306 0.00031
NM_000264.5(PTCH1):c.2887+10G>A rs202081420 0.00031
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417 0.00025
NM_000264.5(PTCH1):c.*168C>A rs769353632 0.00024
NM_000264.5(PTCH1):c.*3138T>C rs548583404 0.00023
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967 0.00021
NM_000264.5(PTCH1):c.3251T>C (p.Val1084Ala) rs1463935039 0.00019
NM_000264.5(PTCH1):c.*750G>A rs777077097 0.00017
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532 0.00017
NM_000264.5(PTCH1):c.*3272C>T rs963000528 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.*1358G>A rs756098510 0.00014
NM_000264.5(PTCH1):c.*2425A>C rs932959120 0.00014
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883 0.00014
NM_000264.5(PTCH1):c.*859C>T rs775198573 0.00012
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser) rs570091335 0.00012
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000264.5(PTCH1):c.896C>T (p.Pro299Leu) rs141939274 0.00012
NM_000264.5(PTCH1):c.560G>A (p.Arg187His) rs138034434 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.324A>G (p.Ile108Met) rs144182921 0.00010
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952 0.00010
NM_000264.5(PTCH1):c.*2795G>T rs773035324 0.00009
NM_000264.5(PTCH1):c.2771C>T (p.Thr924Met) rs1456450494 0.00009
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=) rs369295226 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.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275 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_000264.5(PTCH1):c.*1648A>G rs1057515713 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.884C>T (p.Pro295Leu) rs370755364 0.00007
NM_000264.5(PTCH1):c.*623C>T rs776158552 0.00006
NM_000264.5(PTCH1):c.1342C>A (p.Leu448Ile) rs537871675 0.00006
NM_000264.5(PTCH1):c.3449+11G>A rs568528640 0.00006
NM_000264.5(PTCH1):c.4134T>C (p.Thr1378=) rs775499386 0.00006
NM_000264.5(PTCH1):c.4255C>T (p.Arg1419Trp) rs139942632 0.00006
NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln) rs201118857 0.00005
NM_000264.5(PTCH1):c.*1153C>G rs770443972 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.1664A>G (p.Asn555Ser) rs181192122 0.00004
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573 0.00004
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val) rs587780699 0.00004
NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met) rs769924767 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.3575G>A (p.Arg1192His) rs762040036 0.00004
NM_000264.5(PTCH1):c.3669G>A (p.Ser1223=) rs780515178 0.00004
NM_000264.5(PTCH1):c.3817G>A (p.Glu1273Lys) rs749244396 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.4076G>A (p.Ser1359Asn) rs745451899 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln) rs185570125 0.00004
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.1420G>A (p.Val474Ile) rs766898310 0.00003
NM_000264.5(PTCH1):c.208G>A (p.Ala70Thr) rs753960393 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.2989A>G (p.Ile997Val) rs774440323 0.00003
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000264.5(PTCH1):c.3371C>T (p.Ala1124Val) rs374187104 0.00003
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu) rs781062564 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.3890G>A (p.Arg1297Gln) rs386833412 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.4186G>A (p.Gly1396Arg) rs1060502276 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.727T>C (p.Ser243Pro) rs372422922 0.00003
NM_000264.5(PTCH1):c.899C>T (p.Ala300Val) rs1421967825 0.00003
NM_000264.5(PTCH1):c.947C>A (p.Pro316His) rs143813198 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.1049G>A (p.Ser350Asn) rs779294007 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.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.1351G>A (p.Ala451Thr) rs142791675 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.237G>A (p.Leu79=) rs547602299 0.00002
NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys) rs151310492 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.3066C>T (p.Ile1022=) rs755755175 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.3298G>A (p.Val1100Ile) rs577110118 0.00002
NM_000264.5(PTCH1):c.3610G>A (p.Val1204Met) rs370675945 0.00002
NM_000264.5(PTCH1):c.3623C>T (p.Ala1208Val) rs914090288 0.00002
NM_000264.5(PTCH1):c.3686C>T (p.Thr1229Met) rs781080456 0.00002
NM_000264.5(PTCH1):c.3793G>A (p.Ala1265Thr) rs759791227 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.4030G>T (p.Ala1344Ser) rs765017975 0.00002
NM_000264.5(PTCH1):c.4034G>A (p.Arg1345His) rs766315655 0.00002
NM_000264.5(PTCH1):c.4129G>A (p.Val1377Met) rs745337014 0.00002
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu) rs146447673 0.00002
NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu) rs766849993 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.655-5G>T rs776683312 0.00002
NM_000264.5(PTCH1):c.658A>G (p.Ile220Val) rs768776930 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.*1556T>G rs572321616 0.00001
NM_000264.5(PTCH1):c.*1904T>C rs992648722 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.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.1099A>G (p.Met367Val) rs753152792 0.00001
NM_000264.5(PTCH1):c.1109A>G (p.Lys370Arg) rs768024586 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.1138G>A (p.Glu380Lys) rs772903899 0.00001
NM_000264.5(PTCH1):c.1153A>G (p.Ile385Val) rs977358021 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.1216G>A (p.Val406Met) rs756949381 0.00001
NM_000264.5(PTCH1):c.1218G>A (p.Val406=) rs753586235 0.00001
NM_000264.5(PTCH1):c.1246A>G (p.Thr416Ala) rs952195482 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.1298C>A (p.Ser433Tyr) rs778455544 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.1345A>G (p.Met449Val) rs1423684260 0.00001
NM_000264.5(PTCH1):c.1347+5C>T rs567257548 0.00001
NM_000264.5(PTCH1):c.1391A>G (p.Lys464Arg) rs756171491 0.00001
NM_000264.5(PTCH1):c.1489G>A (p.Ala497Thr) rs1398130707 0.00001
NM_000264.5(PTCH1):c.1504-4del rs1182409968 0.00001
NM_000264.5(PTCH1):c.1519G>A (p.Ala507Thr) rs745669155 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.1642G>A (p.Val548Met) rs575035810 0.00001
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val) rs759078774 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.1712G>A (p.Arg571Gln) rs377566861 0.00001
NM_000264.5(PTCH1):c.182C>G (p.Ala61Gly) rs1296707371 0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000264.5(PTCH1):c.226C>T (p.Pro76Ser) rs997156828 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.2676C>G (p.Ser892Arg) rs1427672162 0.00001
NM_000264.5(PTCH1):c.2677C>T (p.Arg893Cys) rs753008328 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.2704-3T>C rs1208489068 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.2740A>G (p.Ile914Val) rs1441750517 0.00001
NM_000264.5(PTCH1):c.2761A>G (p.Ile921Val) rs760174192 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.2891C>T (p.Pro964Leu) rs377120922 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.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.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.311T>C (p.Val104Ala) rs746275162 0.00001
NM_000264.5(PTCH1):c.3149C>T (p.Pro1050Leu) rs1420175816 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.3220A>G (p.Ile1074Val) rs745626835 0.00001
NM_000264.5(PTCH1):c.322A>G (p.Ile108Val) rs1338490449 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.329G>C (p.Gly110Ala) rs1060502284 0.00001
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met) rs769691754 0.00001
NM_000264.5(PTCH1):c.3325G>A (p.Gly1109Ser) rs1344231723 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.3388G>A (p.Ala1130Thr) rs766037357 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.3452A>G (p.Tyr1151Cys) rs1838317135 0.00001
NM_000264.5(PTCH1):c.3472A>C (p.Ile1158Leu) rs368636457 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.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.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.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.3706G>A (p.Glu1236Lys) rs779844193 0.00001
NM_000264.5(PTCH1):c.3737G>A (p.Gly1246Asp) rs374011978 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.3787G>A (p.Val1263Ile) rs752831580 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.3827A>G (p.His1276Arg) rs1445693994 0.00001
NM_000264.5(PTCH1):c.3841A>G (p.Asn1281Asp) rs1838051752 0.00001
NM_000264.5(PTCH1):c.3875C>T (p.Ser1292Phe) rs760216958 0.00001
NM_000264.5(PTCH1):c.3886G>A (p.Gly1296Arg) rs372828014 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.3932T>C (p.Leu1311Ser) rs1057524645 0.00001
NM_000264.5(PTCH1):c.394+6_394+17del rs774338309 0.00001
NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu) rs1400282737 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.3984A>C (p.Glu1328Asp) rs1394160194 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.4055C>G (p.Pro1352Arg) rs1022984391 0.00001
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val) rs777096311 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.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.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.4237C>T (p.His1413Tyr) rs772886108 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.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.451G>T (p.Ala151Ser) rs751024812 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.500C>A (p.Ala167Asp) rs587780707 0.00001
NM_000264.5(PTCH1):c.514A>G (p.Thr172Ala) rs1244945859 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.584+6G>A rs1282207631 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.652C>G (p.Gln218Glu) rs1841591077 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.728C>T (p.Ser243Phe) rs141265422 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.832T>G (p.Trp278Gly) rs1219459429 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.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.916G>A (p.Ala306Thr) rs547776340 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.944A>C (p.Lys315Thr) rs746517321 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_001083603.3(PTCH1):c.41C>T (p.Pro14Leu) rs369865916 0.00001
GRCh38/hg38 9q22.32(chr9:95516880-95521983)x3
NC_000009.11:g.(?_98226337)_(98248166_?)dup
NC_000009.11:g.(?_98231023)_(98232223_?)del
NC_000009.11:g.(?_98268679)_(98279100_?)dup
NC_000009.12:g.(?_95446912)_(95508361_?)dup
NM_000264.3(PTCH1):c.3168+763_4244del
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[12] rs59205702
NM_000264.5(PTCH1):c.*186T>G rs977327674
NM_000264.5(PTCH1):c.*2-1G>A
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.*3213T>C rs992312438
NM_000264.5(PTCH1):c.*592C>T rs890920802
NM_000264.5(PTCH1):c.*62C>T rs1837877053
NM_000264.5(PTCH1):c.*903G>A rs188320042
NM_000264.5(PTCH1):c.*943T>C rs538912814
NM_000264.5(PTCH1):c.1001A>T (p.Tyr334Phe)
NM_000264.5(PTCH1):c.1003A>C (p.Met335Leu)
NM_000264.5(PTCH1):c.1005G>T (p.Met335Ile)
NM_000264.5(PTCH1):c.1008C>G (p.His336Gln) rs1841405475
NM_000264.5(PTCH1):c.1009T>A (p.Trp337Arg) rs2118391966
NM_000264.5(PTCH1):c.1013A>G (p.Gln338Arg)
NM_000264.5(PTCH1):c.1014_1015insTTGCAG (p.Gln338_Glu339insLeuGln) rs2118391482
NM_000264.5(PTCH1):c.1015G>A (p.Glu339Lys)
NM_000264.5(PTCH1):c.1018G>C (p.Glu340Gln)
NM_000264.5(PTCH1):c.1021T>A (p.Leu341Met) rs780256480
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.1033G>A (p.Gly345Ser)
NM_000264.5(PTCH1):c.1034G>A (p.Gly345Asp)
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.1044G>T (p.Lys348Asn)
NM_000264.5(PTCH1):c.1045A>G (p.Asn349Asp) rs1588608348
NM_000264.5(PTCH1):c.1046A>G (p.Asn349Ser)
NM_000264.5(PTCH1):c.1048A>T (p.Ser350Cys) rs2118388571
NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser)
NM_000264.5(PTCH1):c.1054G>A (p.Gly352Arg)
NM_000264.5(PTCH1):c.1056A>G (p.Gly352=) rs1841396845
NM_000264.5(PTCH1):c.1060C>A (p.Leu354Ile) rs1588608286
NM_000264.5(PTCH1):c.1060C>T (p.Leu354Phe) rs1588608286
NM_000264.5(PTCH1):c.1063G>C (p.Val355Leu)
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.1070C>T (p.Ala357Val) rs1841334350
NM_000264.5(PTCH1):c.1072C>T (p.His358Tyr)
NM_000264.5(PTCH1):c.1073A>G (p.His358Arg)
NM_000264.5(PTCH1):c.1076C>G (p.Ala359Gly)
NM_000264.5(PTCH1):c.1076C>T (p.Ala359Val) rs1302357924
NM_000264.5(PTCH1):c.1079T>C (p.Leu360Pro) rs2118368178
NM_000264.5(PTCH1):c.1087A>C (p.Met363Leu)
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.1092C>G (p.Phe364Leu) rs2118367698
NM_000264.5(PTCH1):c.1109A>T (p.Lys370Met) rs768024586
NM_000264.5(PTCH1):c.1114A>G (p.Met372Val)
NM_000264.5(PTCH1):c.1120G>C (p.Glu374Gln)
NM_000264.5(PTCH1):c.1122G>T (p.Glu374Asp)
NM_000264.5(PTCH1):c.1124A>T (p.His375Leu)
NM_000264.5(PTCH1):c.1129A>G (p.Lys377Glu) rs1588605721
NM_000264.5(PTCH1):c.1131G>T (p.Lys377Asn)
NM_000264.5(PTCH1):c.1132G>A (p.Gly378Arg)
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.1136A>G (p.Tyr379Cys) rs1841324703
NM_000264.5(PTCH1):c.1144G>A (p.Val382Ile) rs1841323482
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.1152C>A (p.His384Gln) rs200246772
NM_000264.5(PTCH1):c.1152C>G (p.His384Gln) rs200246772
NM_000264.5(PTCH1):c.1154T>C (p.Ile385Thr) rs2118365611
NM_000264.5(PTCH1):c.1157A>G (p.Asn386Ser) rs1564053157
NM_000264.5(PTCH1):c.1161G>C (p.Trp387Cys)
NM_000264.5(PTCH1):c.1162A>C (p.Asn388His)
NM_000264.5(PTCH1):c.1164C>A (p.Asn388Lys) rs201602238
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys) rs1841320331
NM_000264.5(PTCH1):c.1168G>C (p.Asp390His) rs1588605451
NM_000264.5(PTCH1):c.1168G>T (p.Asp390Tyr) rs1588605451
NM_000264.5(PTCH1):c.1172A>G (p.Lys391Arg) rs1554699163
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.1186C>G (p.Leu396Val) rs371424684
NM_000264.5(PTCH1):c.1195T>A (p.Trp399Arg) rs2118364438
NM_000264.5(PTCH1):c.1208A>G (p.Tyr403Cys) rs1588605278
NM_000264.5(PTCH1):c.1211T>C (p.Val404Ala)
NM_000264.5(PTCH1):c.1213G>A (p.Glu405Lys)
NM_000264.5(PTCH1):c.1215+4A>T
NM_000264.5(PTCH1):c.1219G>T (p.Val407Phe)
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del) rs1489690325
NM_000264.5(PTCH1):c.1226A>G (p.Gln409Arg) rs1841233191
NM_000264.5(PTCH1):c.1228A>C (p.Ser410Arg)
NM_000264.5(PTCH1):c.1229G>A (p.Ser410Asn)
NM_000264.5(PTCH1):c.1231G>A (p.Val411Ile)
NM_000264.5(PTCH1):c.1234G>A (p.Ala412Thr) rs370354759
NM_000264.5(PTCH1):c.1241A>G (p.Asn414Ser) rs2118338120
NM_000264.5(PTCH1):c.1242C>G (p.Asn414Lys)
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.1250A>G (p.Gln417Arg) rs1060502270
NM_000264.5(PTCH1):c.1250A>T (p.Gln417Leu)
NM_000264.5(PTCH1):c.1253A>T (p.Lys418Met)
NM_000264.5(PTCH1):c.1255G>A (p.Val419Met)
NM_000264.5(PTCH1):c.1255G>T (p.Val419Leu) rs202136156
NM_000264.5(PTCH1):c.1256T>G (p.Val419Gly)
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.1262C>T (p.Ser421Phe) rs1285775586
NM_000264.5(PTCH1):c.1267A>C (p.Thr423Pro)
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.1270A>G (p.Thr424Ala)
NM_000264.5(PTCH1):c.1271C>G (p.Thr424Ser)
NM_000264.5(PTCH1):c.1273A>G (p.Thr425Ala)
NM_000264.5(PTCH1):c.1276A>G (p.Thr426Ala)
NM_000264.5(PTCH1):c.1276A>T (p.Thr426Ser)
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.1284C>A (p.Asp428Glu)
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.1288A>G (p.Ile430Val)
NM_000264.5(PTCH1):c.1291C>G (p.Leu431Val) 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.1300T>C (p.Phe434Leu) rs2118332463
NM_000264.5(PTCH1):c.1301T>C (p.Phe434Ser) rs1841222850
NM_000264.5(PTCH1):c.1301_1303del (p.Phe434del)
NM_000264.5(PTCH1):c.1302C>A (p.Phe434Leu)
NM_000264.5(PTCH1):c.1304C>G (p.Ser435Cys) rs2118332232
NM_000264.5(PTCH1):c.1307_1308delinsCA (p.Asp436Ala)
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>A (p.Ser438Asn)
NM_000264.5(PTCH1):c.1313G>T (p.Ser438Ile)
NM_000264.5(PTCH1):c.1314T>A (p.Ser438Arg) rs1588602538
NM_000264.5(PTCH1):c.1315G>A (p.Val439Ile)
NM_000264.5(PTCH1):c.1321C>T (p.Arg441Cys)
NM_000264.5(PTCH1):c.1322G>C (p.Arg441Pro) rs767273237
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>A (p.Ala443Thr)
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.1331G>A (p.Ser444Asn) rs1588602411
NM_000264.5(PTCH1):c.1332C>A (p.Ser444Arg) rs373930674
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.1337A>C (p.Tyr446Ser) rs2118329512
NM_000264.5(PTCH1):c.1337A>G (p.Tyr446Cys) rs2118329512
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val) rs537871675
NM_000264.5(PTCH1):c.1342C>T (p.Leu448Phe)
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+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.1347G>A (p.Met449Ile)
NM_000264.5(PTCH1):c.1351G>C (p.Ala451Pro)
NM_000264.5(PTCH1):c.1354T>A (p.Tyr452Asn)
NM_000264.5(PTCH1):c.1355A>G (p.Tyr452Cys) rs1255345516
NM_000264.5(PTCH1):c.1361G>A (p.Cys454Tyr)
NM_000264.5(PTCH1):c.1366A>C (p.Thr456Pro) rs1841168008
NM_000264.5(PTCH1):c.1367C>G (p.Thr456Ser)
NM_000264.5(PTCH1):c.1370T>A (p.Met457Lys)
NM_000264.5(PTCH1):c.1370T>G (p.Met457Arg) rs2118310654
NM_000264.5(PTCH1):c.1375C>G (p.Arg459Gly)
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
NM_000264.5(PTCH1):c.1378T>C (p.Trp460Arg) rs1841166322
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.1388C>T (p.Ser463Phe)
NM_000264.5(PTCH1):c.1391A>T (p.Lys464Met)
NM_000264.5(PTCH1):c.1393T>C (p.Ser465Pro)
NM_000264.5(PTCH1):c.1397A>G (p.Gln466Arg)
NM_000264.5(PTCH1):c.1399G>A (p.Gly467Ser)
NM_000264.5(PTCH1):c.1400G>T (p.Gly467Val)
NM_000264.5(PTCH1):c.1402G>A (p.Ala468Thr)
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.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.1417G>C (p.Gly473Arg)
NM_000264.5(PTCH1):c.1418G>A (p.Gly473Asp) rs1841159429
NM_000264.5(PTCH1):c.1433C>T (p.Ala478Val)
NM_000264.5(PTCH1):c.1435C>G (p.Leu479Val)
NM_000264.5(PTCH1):c.1445C>T (p.Ala482Val)
NM_000264.5(PTCH1):c.1451G>C (p.Gly484Ala)
NM_000264.5(PTCH1):c.1465T>G (p.Ser489Ala) rs2118304226
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>G (p.Gly492=) rs1057515720
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala) rs1057515719
NM_000264.5(PTCH1):c.1481C>G (p.Ser494Cys)
NM_000264.5(PTCH1):c.1481C>T (p.Ser494Phe)
NM_000264.5(PTCH1):c.1483T>G (p.Phe495Val)
NM_000264.5(PTCH1):c.1487_1488delinsTA (p.Asn496Ile) rs2118303008
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.1493C>T (p.Ala498Val)
NM_000264.5(PTCH1):c.1496C>A (p.Thr499Lys) rs1298115628
NM_000264.5(PTCH1):c.1503+17T>G
NM_000264.5(PTCH1):c.1503+3A>G rs878853846
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.1504-3T>C rs1588598721
NM_000264.5(PTCH1):c.1508T>G (p.Leu503Trp) rs1841078928
NM_000264.5(PTCH1):c.1516C>T (p.Leu506Phe)
NM_000264.5(PTCH1):c.1534G>A (p.Val512Met)
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.1541A>G (p.Asp514Gly)
NM_000264.5(PTCH1):c.1543G>A (p.Val515Ile) rs2118283531
NM_000264.5(PTCH1):c.1544T>A (p.Val515Asp) rs1057518491
NM_000264.5(PTCH1):c.1544T>C (p.Val515Ala)
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.1550T>C (p.Leu517Pro)
NM_000264.5(PTCH1):c.1554G>A (p.Leu518=) rs1841075494
NM_000264.5(PTCH1):c.1555G>T (p.Ala519Ser)
NM_000264.5(PTCH1):c.1555_1556delinsTA (p.Ala519Tyr) rs1554698275
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.1567A>G (p.Ser523Gly) rs2118281828
NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr) rs751778283
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.1581G>T (p.Gln527His) rs2118280777
NM_000264.5(PTCH1):c.1582A>C (p.Asn528His)
NM_000264.5(PTCH1):c.1583A>G (p.Asn528Ser) rs1841073512
NM_000264.5(PTCH1):c.1584T>A (p.Asn528Lys)
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.1592T>C (p.Ile531Thr) rs1227526379
NM_000264.5(PTCH1):c.1594C>T (p.Pro532Ser)
NM_000264.5(PTCH1):c.1597T>G (p.Phe533Val)
NM_000264.5(PTCH1):c.1598T>C (p.Phe533Ser) rs1318015818
NM_000264.5(PTCH1):c.1598T>G (p.Phe533Cys) rs1318015818
NM_000264.5(PTCH1):c.1600G>A (p.Glu534Lys) rs1323512738
NM_000264.5(PTCH1):c.1602+5T>C
NM_000264.5(PTCH1):c.1603-3C>A
NM_000264.5(PTCH1):c.1605C>G (p.Asp535Glu)
NM_000264.5(PTCH1):c.1610C>T (p.Thr537Ile) rs2118261336
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.1617G>C (p.Glu539Asp)
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.161G>C (p.Ser54Thr)
NM_000264.5(PTCH1):c.1624A>C (p.Lys542Gln)
NM_000264.5(PTCH1):c.1627C>G (p.Arg543Gly)
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys) rs137903539
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.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.164A>C (p.Tyr55Ser)
NM_000264.5(PTCH1):c.164A>G (p.Tyr55Cys) rs1205081001
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.1657A>G (p.Ile553Val)
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.1665_1666inv (p.Val556Ile)
NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile) rs1318405179
NM_000264.5(PTCH1):c.166T>A (p.Cys56Ser)
NM_000264.5(PTCH1):c.166T>C (p.Cys56Arg)
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.1678T>A (p.Phe560Ile)
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.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.1687G>A (p.Ala563Thr) rs146616780
NM_000264.5(PTCH1):c.1687G>T (p.Ala563Ser) rs146616780
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.1699A>G (p.Ile567Val) rs200504753
NM_000264.5(PTCH1):c.169G>A (p.Asp57Asn)
NM_000264.5(PTCH1):c.1705G>A (p.Ala569Thr) rs753240797
NM_000264.5(PTCH1):c.1706C>G (p.Ala569Gly)
NM_000264.5(PTCH1):c.1706C>T (p.Ala569Val)
NM_000264.5(PTCH1):c.1708C>G (p.Leu570Val) rs1841004985
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.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.1721C>T (p.Ser574Phe) rs1841002219
NM_000264.5(PTCH1):c.1728+3G>A
NM_000264.5(PTCH1):c.1728+3G>C rs1588596061
NM_000264.5(PTCH1):c.1728+5G>A
NM_000264.5(PTCH1):c.1728+6C>A rs761805788
NM_000264.5(PTCH1):c.1728G>T (p.Gln576His) rs1841001917
NM_000264.5(PTCH1):c.172G>A (p.Ala58Thr) rs1249138008
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.175G>A (p.Ala59Thr) rs147738224
NM_000264.5(PTCH1):c.175G>T (p.Ala59Ser)
NM_000264.5(PTCH1):c.176C>T (p.Ala59Val)
NM_000264.5(PTCH1):c.181G>T (p.Ala61Ser)
NM_000264.5(PTCH1):c.182C>T (p.Ala61Val)
NM_000264.5(PTCH1):c.184C>G (p.Leu62Val) rs1843886204
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.189G>C (p.Glu63Asp) rs1587700210
NM_000264.5(PTCH1):c.189G>T (p.Glu63Asp) rs1587700210
NM_000264.5(PTCH1):c.190C>G (p.Gln64Glu)
NM_000264.5(PTCH1):c.190_192del (p.Gln64del)
NM_000264.5(PTCH1):c.192G>C (p.Gln64His) rs1843885224
NM_000264.5(PTCH1):c.192G>T (p.Gln64His)
NM_000264.5(PTCH1):c.193A>G (p.Ile65Val)
NM_000264.5(PTCH1):c.194T>C (p.Ile65Thr) rs1843885007
NM_000264.5(PTCH1):c.197C>A (p.Ser66Tyr) rs1025299062
NM_000264.5(PTCH1):c.197C>T (p.Ser66Phe)
NM_000264.5(PTCH1):c.199A>G (p.Lys67Glu)
NM_000264.5(PTCH1):c.200A>C (p.Lys67Thr) rs1843883983
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.202-2A>G rs878853849
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val) rs764137082
NM_000264.5(PTCH1):c.211A>G (p.Thr71Ala)
NM_000264.5(PTCH1):c.211A>T (p.Thr71Ser)
NM_000264.5(PTCH1):c.214G>A (p.Gly72Ser)
NM_000264.5(PTCH1):c.215G>T (p.Gly72Val)
NM_000264.5(PTCH1):c.218G>A (p.Arg73Gln)
NM_000264.5(PTCH1):c.218G>C (p.Arg73Pro)
NM_000264.5(PTCH1):c.222A>C (p.Lys74Asn)
NM_000264.5(PTCH1):c.223G>A (p.Ala75Thr)
NM_000264.5(PTCH1):c.224C>T (p.Ala75Val)
NM_000264.5(PTCH1):c.226C>A (p.Pro76Thr) rs997156828
NM_000264.5(PTCH1):c.229C>G (p.Leu77Val)
NM_000264.5(PTCH1):c.234G>T (p.Trp78Cys) rs1554708787
NM_000264.5(PTCH1):c.235C>A (p.Leu79Met) rs1564088372
NM_000264.5(PTCH1):c.235C>G (p.Leu79Val)
NM_000264.5(PTCH1):c.239G>C (p.Arg80Thr)
NM_000264.5(PTCH1):c.240A>C (p.Arg80Ser)
NM_000264.5(PTCH1):c.241G>A (p.Ala81Thr) rs2118880380
NM_000264.5(PTCH1):c.241G>C (p.Ala81Pro)
NM_000264.5(PTCH1):c.242C>G (p.Ala81Gly) rs1843664597
NM_000264.5(PTCH1):c.244A>G (p.Lys82Glu)
NM_000264.5(PTCH1):c.245A>G (p.Lys82Arg) rs1587693690
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu) rs1263611523
NM_000264.5(PTCH1):c.250C>G (p.Gln84Glu)
NM_000264.5(PTCH1):c.253A>G (p.Arg85Gly) rs1554708772
NM_000264.5(PTCH1):c.2561-3T>C rs2136690024
NM_000264.5(PTCH1):c.2561-5T>C
NM_000264.5(PTCH1):c.2561G>A (p.Gly854Glu)
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=) rs751613059
NM_000264.5(PTCH1):c.256C>T (p.Leu86Phe)
NM_000264.5(PTCH1):c.2570A>C (p.Asp857Ala)
NM_000264.5(PTCH1):c.2570A>T (p.Asp857Val)
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.2581A>G (p.Ser861Gly)
NM_000264.5(PTCH1):c.2582G>A (p.Ser861Asn) rs2136689511
NM_000264.5(PTCH1):c.2587T>C (p.Trp863Arg)
NM_000264.5(PTCH1):c.2589G>C (p.Trp863Cys)
NM_000264.5(PTCH1):c.2589G>T (p.Trp863Cys) rs1277861627
NM_000264.5(PTCH1):c.2594C>G (p.Thr865Ser) rs1839515437
NM_000264.5(PTCH1):c.2597G>A (p.Gly866Glu) rs863224651
NM_000264.5(PTCH1):c.259_264del (p.Leu87_Phe88del) rs1060502296
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.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.2620A>G (p.Lys874Glu) rs2136688658
NM_000264.5(PTCH1):c.2622G>T (p.Lys874Asn)
NM_000264.5(PTCH1):c.262T>C (p.Phe88Leu)
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.263T>A (p.Phe88Tyr)
NM_000264.5(PTCH1):c.2641G>A (p.Val881Ile)
NM_000264.5(PTCH1):c.2642T>C (p.Val881Ala) rs1839509519
NM_000264.5(PTCH1):c.2651A>C (p.Tyr884Ser)
NM_000264.5(PTCH1):c.2651A>G (p.Tyr884Cys) rs2136687938
NM_000264.5(PTCH1):c.2654A>G (p.Lys885Arg)
NM_000264.5(PTCH1):c.2654A>T (p.Lys885Ile) rs1272128871
NM_000264.5(PTCH1):c.2662G>A (p.Val888Met)
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu) rs1839507201
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.2672G>C (p.Gly891Ala)
NM_000264.5(PTCH1):c.267A>C (p.Lys89Asn)
NM_000264.5(PTCH1):c.2684A>C (p.Lys895Thr) rs1839503876
NM_000264.5(PTCH1):c.2687C>T (p.Pro896Leu) rs1839503471
NM_000264.5(PTCH1):c.2690T>G (p.Ile897Ser)
NM_000264.5(PTCH1):c.2691C>G (p.Ile897Met) 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.2701C>A (p.Gln901Lys)
NM_000264.5(PTCH1):c.2703+12G>A rs1295275193
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.2704-2A>G
NM_000264.5(PTCH1):c.2704T>C (p.Leu902=) rs1348603148
NM_000264.5(PTCH1):c.2707A>G (p.Thr903Ala)
NM_000264.5(PTCH1):c.2707A>T (p.Thr903Ser)
NM_000264.5(PTCH1):c.2708C>G (p.Thr903Ser) rs1564021882
NM_000264.5(PTCH1):c.270_271delinsAA (p.Gly91Ser)
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.2716C>G (p.Arg906Gly) rs1588545099
NM_000264.5(PTCH1):c.2716C>T (p.Arg906Cys) rs1588545099
NM_000264.5(PTCH1):c.271G>A (p.Gly91Ser)
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.2729C>G (p.Ala910Gly)
NM_000264.5(PTCH1):c.272G>C (p.Gly91Ala)
NM_000264.5(PTCH1):c.2731G>T (p.Asp911Tyr)
NM_000264.5(PTCH1):c.2732A>G (p.Asp911Gly)
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.2738T>C (p.Ile913Thr)
NM_000264.5(PTCH1):c.2746C>T (p.Pro916Ser)
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>A (p.Phe919Leu)
NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)
NM_000264.5(PTCH1):c.275G>T (p.Cys92Phe)
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.2767C>G (p.Leu923Val)
NM_000264.5(PTCH1):c.2770A>T (p.Thr924Ser)
NM_000264.5(PTCH1):c.2772G>A (p.Thr924=) rs1554691694
NM_000264.5(PTCH1):c.2774C>T (p.Ala925Val)
NM_000264.5(PTCH1):c.2779G>A (p.Val927Ile) rs1554691693
NM_000264.5(PTCH1):c.277T>C (p.Tyr93His)
NM_000264.5(PTCH1):c.2781C>G (p.Val927=) rs2136671987
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.2790C>A (p.Asp930Glu)
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu) rs1839290937
NM_000264.5(PTCH1):c.2798C>T (p.Ala933Val) rs768558478
NM_000264.5(PTCH1):c.2801A>G (p.Tyr934Cys)
NM_000264.5(PTCH1):c.2801A>T (p.Tyr934Phe) rs1209943415
NM_000264.5(PTCH1):c.2803G>C (p.Ala935Pro) rs1554691676
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.2812C>G (p.Gln938Glu) rs778810550
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.281T>G (p.Ile94Ser) rs1587693521
NM_000264.5(PTCH1):c.2822T>A (p.Ile941Asn)
NM_000264.5(PTCH1):c.2822T>C (p.Ile941Thr)
NM_000264.5(PTCH1):c.2823C>G (p.Ile941Met) rs1839283096
NM_000264.5(PTCH1):c.2824C>G (p.Arg942Gly) rs756465236
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.2827C>A (p.Pro943Thr)
NM_000264.5(PTCH1):c.2827C>T (p.Pro943Ser)
NM_000264.5(PTCH1):c.2830C>G (p.His944Asp)
NM_000264.5(PTCH1):c.2830C>T (p.His944Tyr) rs1588544426
NM_000264.5(PTCH1):c.2833C>G (p.Arg945Gly)
NM_000264.5(PTCH1):c.2834G>C (p.Arg945Pro)
NM_000264.5(PTCH1):c.2837_2838delinsAG (p.Pro946Gln)
NM_000264.5(PTCH1):c.2842T>C (p.Trp948Arg)
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.2854A>G (p.Lys952Glu)
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.2867T>C (p.Met956Thr)
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.2879G>C (p.Arg960Thr)
NM_000264.5(PTCH1):c.2881C>T (p.Leu961=) rs1839273856
NM_000264.5(PTCH1):c.2882T>C (p.Leu961Pro) rs1588544210
NM_000264.5(PTCH1):c.2886_2887insCTA (p.Arg962_Ile963insLeu) rs2136669790
NM_000264.5(PTCH1):c.2887+4A>C rs1588544193
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+5G>A
NM_000264.5(PTCH1):c.2888-3C>G
NM_000264.5(PTCH1):c.2888-5T>A
NM_000264.5(PTCH1):c.2889C>G (p.Ile963Met) rs878853853
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.2897C>G (p.Ala966Gly)
NM_000264.5(PTCH1):c.2902C>T (p.Pro968Ser)
NM_000264.5(PTCH1):c.2903C>T (p.Pro968Leu)
NM_000264.5(PTCH1):c.2905A>G (p.Ile969Val)
NM_000264.5(PTCH1):c.2907C>G (p.Ile969Met) rs748318700
NM_000264.5(PTCH1):c.2908G>A (p.Glu970Lys) rs1201956507
NM_000264.5(PTCH1):c.2914G>C (p.Ala972Pro) rs2136662633
NM_000264.5(PTCH1):c.2915C>G (p.Ala972Gly)
NM_000264.5(PTCH1):c.2919G>T (p.Gln973His) rs1564019804
NM_000264.5(PTCH1):c.291C>A (p.Asn97Lys)
NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu)
NM_000264.5(PTCH1):c.2924C>T (p.Pro975Leu) rs2136662526
NM_000264.5(PTCH1):c.2928C>G (p.Phe976Leu) rs1588540820
NM_000264.5(PTCH1):c.292T>G (p.Cys98Gly)
NM_000264.5(PTCH1):c.2933T>C (p.Leu978Pro) rs863224652
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.2942T>C (p.Leu981Ser)
NM_000264.5(PTCH1):c.2943G>C (p.Leu981Phe)
NM_000264.5(PTCH1):c.2944C>G (p.Arg982Gly) rs867973996
NM_000264.5(PTCH1):c.2944C>T (p.Arg982Trp)
NM_000264.5(PTCH1):c.2948A>T (p.Asp983Val)
NM_000264.5(PTCH1):c.2950A>T (p.Thr984Ser) rs1839130173
NM_000264.5(PTCH1):c.2962G>A (p.Val988Met)
NM_000264.5(PTCH1):c.2968G>A (p.Ala990Thr)
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.2971A>G (p.Ile991Val) rs1189382722
NM_000264.5(PTCH1):c.2972T>C (p.Ile991Thr)
NM_000264.5(PTCH1):c.2978A>G (p.Lys993Arg) rs2136661892
NM_000264.5(PTCH1):c.2980G>A (p.Val994Ile) rs1588540545
NM_000264.5(PTCH1):c.2984G>A (p.Arg995Lys) rs1839126241
NM_000264.5(PTCH1):c.2987C>G (p.Thr996Ser) rs1839125790
NM_000264.5(PTCH1):c.2987C>T (p.Thr996Ile)
NM_000264.5(PTCH1):c.2987_2988delinsAT (p.Thr996Asn) rs2136661772
NM_000264.5(PTCH1):c.2990T>C (p.Ile997Thr)
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.3001T>C (p.Tyr1001His)
NM_000264.5(PTCH1):c.3002A>G (p.Tyr1001Cys) rs1839124423
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val) rs864622620
NM_000264.5(PTCH1):c.3011T>G (p.Leu1004Arg) rs1564019538
NM_000264.5(PTCH1):c.3013G>A (p.Gly1005Arg)
NM_000264.5(PTCH1):c.3014G>A (p.Gly1005Glu) rs1839122259
NM_000264.5(PTCH1):c.3014G>T (p.Gly1005Val)
NM_000264.5(PTCH1):c.3016C>A (p.Leu1006Met)
NM_000264.5(PTCH1):c.3017T>C (p.Leu1006Pro) rs1839121774
NM_000264.5(PTCH1):c.3022A>G (p.Ser1008Gly)
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.3033C>A (p.Asn1011Lys)
NM_000264.5(PTCH1):c.3033C>G (p.Asn1011Lys)
NM_000264.5(PTCH1):c.3038A>G (p.Tyr1013Cys)
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.3043T>A (p.Phe1015Ile)
NM_000264.5(PTCH1):c.3046C>T (p.Leu1016Phe) rs374575067
NM_000264.5(PTCH1):c.3051_3053del (p.Phe1017_Trp1018delinsLeu)
NM_000264.5(PTCH1):c.3052T>G (p.Trp1018Gly)
NM_000264.5(PTCH1):c.3059_3082del (p.Gln1020_Trp1027del) rs2136660602
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.306G>C (p.Leu102Phe) rs199522392
NM_000264.5(PTCH1):c.3070C>T (p.Leu1024Phe)
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.3083T>A (p.Leu1028Gln)
NM_000264.5(PTCH1):c.308T>C (p.Val103Ala)
NM_000264.5(PTCH1):c.3091T>G (p.Phe1031Val)
NM_000264.5(PTCH1):c.3098G>C (p.Ser1033Thr) rs1588539911
NM_000264.5(PTCH1):c.3099C>G (p.Ser1033Arg)
NM_000264.5(PTCH1):c.3100G>T (p.Val1034Leu)
NM_000264.5(PTCH1):c.3103G>C (p.Val1035Leu)
NM_000264.5(PTCH1):c.3103G>T (p.Val1035Leu) rs1839103824
NM_000264.5(PTCH1):c.3104T>G (p.Val1035Gly)
NM_000264.5(PTCH1):c.3106T>G (p.Leu1036Val)
NM_000264.5(PTCH1):c.3112T>C (p.Cys1038Arg) rs2136660230
NM_000264.5(PTCH1):c.3112T>G (p.Cys1038Gly)
NM_000264.5(PTCH1):c.3113G>A (p.Cys1038Tyr)
NM_000264.5(PTCH1):c.3116C>T (p.Thr1039Ile) rs2136660189
NM_000264.5(PTCH1):c.3120C>A (p.Phe1040Leu)
NM_000264.5(PTCH1):c.3125T>C (p.Val1042Ala) rs1839101189
NM_000264.5(PTCH1):c.3125T>G (p.Val1042Gly)
NM_000264.5(PTCH1):c.3127T>G (p.Cys1043Gly)
NM_000264.5(PTCH1):c.3129C>G (p.Cys1043Trp)
NM_000264.5(PTCH1):c.3130G>A (p.Ala1044Thr) rs138458710
NM_000264.5(PTCH1):c.3130G>T (p.Ala1044Ser)
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.3139C>G (p.Leu1047Val)
NM_000264.5(PTCH1):c.3147C>G (p.Asn1049Lys) rs1588539644
NM_000264.5(PTCH1):c.3149C>G (p.Pro1050Arg)
NM_000264.5(PTCH1):c.3151T>G (p.Trp1051Gly) rs1564019039
NM_000264.5(PTCH1):c.3155C>A (p.Thr1052Lys)
NM_000264.5(PTCH1):c.3160G>A (p.Gly1054Arg) rs2136659721
NM_000264.5(PTCH1):c.3161G>A (p.Gly1054Glu)
NM_000264.5(PTCH1):c.3162G>T (p.Gly1054=) rs1588539563
NM_000264.5(PTCH1):c.3166A>G (p.Ile1056Val)
NM_000264.5(PTCH1):c.3168+139G>C
NM_000264.5(PTCH1):c.3168+6T>A rs1839094345
NM_000264.5(PTCH1):c.3169G>A (p.Val1057Met) rs1838934517
NM_000264.5(PTCH1):c.3173T>C (p.Met1058Thr)
NM_000264.5(PTCH1):c.317T>G (p.Leu106Arg) rs1131690998
NM_000264.5(PTCH1):c.3185T>C (p.Leu1062Pro)
NM_000264.5(PTCH1):c.3187A>T (p.Met1063Leu)
NM_000264.5(PTCH1):c.3190A>G (p.Thr1064Ala) rs1838931276
NM_000264.5(PTCH1):c.319C>T (p.Leu107Phe) rs2118876683
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.3205G>A (p.Gly1069Ser) rs2136649648
NM_000264.5(PTCH1):c.3206G>T (p.Gly1069Val) rs1588535858
NM_000264.5(PTCH1):c.3209T>G (p.Met1070Arg) rs2136649542
NM_000264.5(PTCH1):c.3210G>A (p.Met1070Ile)
NM_000264.5(PTCH1):c.3217C>A (p.Leu1073Ile)
NM_000264.5(PTCH1):c.321_323del (p.Ile108del)
NM_000264.5(PTCH1):c.3221T>C (p.Ile1074Thr)
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg) rs1838926237
NM_000264.5(PTCH1):c.3224G>T (p.Gly1075Val)
NM_000264.5(PTCH1):c.3226A>C (p.Ile1076Leu)
NM_000264.5(PTCH1):c.3226A>G (p.Ile1076Val)
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.323T>C (p.Ile108Thr) rs2118876529
NM_000264.5(PTCH1):c.3244C>T (p.Pro1082Ser)
NM_000264.5(PTCH1):c.3245C>A (p.Pro1082His) rs2136648648
NM_000264.5(PTCH1):c.3245C>G (p.Pro1082Arg)
NM_000264.5(PTCH1):c.3250G>T (p.Val1084Phe) rs1838922991
NM_000264.5(PTCH1):c.3255C>G (p.Ile1085Met)
NM_000264.5(PTCH1):c.3256C>A (p.Leu1086Met)
NM_000264.5(PTCH1):c.3256C>G (p.Leu1086Val) rs777291938
NM_000264.5(PTCH1):c.3257T>C (p.Leu1086Pro) rs1588535542
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.3263C>A (p.Ala1088Asp)
NM_000264.5(PTCH1):c.3263C>T (p.Ala1088Val) rs1838920838
NM_000264.5(PTCH1):c.3268G>A (p.Val1090Ile)
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.3272G>C (p.Gly1091Ala)
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.3278G>A (p.Gly1093Glu)
NM_000264.5(PTCH1):c.3280G>A (p.Val1094Met) rs1588535447
NM_000264.5(PTCH1):c.3283G>C (p.Glu1095Gln) rs1588535427
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.3298G>T (p.Val1100Phe)
NM_000264.5(PTCH1):c.3304T>G (p.Leu1102Val) rs1554690984
NM_000264.5(PTCH1):c.3306+4T>C
NM_000264.5(PTCH1):c.3306+5G>A rs587780701
NM_000264.5(PTCH1):c.3306+6G>T rs777678813
NM_000264.5(PTCH1):c.3306G>A (p.Leu1102=) rs1564017035
NM_000264.5(PTCH1):c.3307-3C>T
NM_000264.5(PTCH1):c.3307-4A>G
NM_000264.5(PTCH1):c.3307G>T (p.Ala1103Ser) rs1838668785
NM_000264.5(PTCH1):c.3312T>A (p.Phe1104Leu) rs1554690489
NM_000264.5(PTCH1):c.331G>A (p.Ala111Thr) rs777897973
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.332C>T (p.Ala111Val)
NM_000264.5(PTCH1):c.3330C>A (p.Asp1110Glu)
NM_000264.5(PTCH1):c.3332A>G (p.Lys1111Arg) rs2136632174
NM_000264.5(PTCH1):c.3335A>G (p.Asn1112Ser)
NM_000264.5(PTCH1):c.3336C>A (p.Asn1112Lys)
NM_000264.5(PTCH1):c.3338G>T (p.Arg1113Leu)
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met) rs201605273
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.3355C>G (p.Leu1119Val)
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.3362A>G (p.His1121Arg) rs1838661805
NM_000264.5(PTCH1):c.3362A>T (p.His1121Leu) rs1838661805
NM_000264.5(PTCH1):c.3364A>G (p.Met1122Val) rs1838661361
NM_000264.5(PTCH1):c.3365T>A (p.Met1122Lys) rs929802114
NM_000264.5(PTCH1):c.3365T>C (p.Met1122Thr)
NM_000264.5(PTCH1):c.3373C>G (p.Pro1125Ala)
NM_000264.5(PTCH1):c.3373C>T (p.Pro1125Ser)
NM_000264.5(PTCH1):c.3376G>T (p.Val1126Phe) rs147025073
NM_000264.5(PTCH1):c.3379C>G (p.Leu1127Val)
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg) rs1588528637
NM_000264.5(PTCH1):c.3389C>T (p.Ala1130Val) rs1588528579
NM_000264.5(PTCH1):c.3392T>C (p.Val1131Ala)
NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr) rs878853856
NM_000264.5(PTCH1):c.3397A>C (p.Thr1133Pro)
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala) rs1131690996
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.340G>A (p.Val114Met) rs1843653470
NM_000264.5(PTCH1):c.340G>T (p.Val114Leu) rs1843653470
NM_000264.5(PTCH1):c.3410_3424del (p.Val1137_Ala1141del) rs1554690414
NM_000264.5(PTCH1):c.3412C>G (p.Leu1138Val) rs1838654825
NM_000264.5(PTCH1):c.3413T>C (p.Leu1138Pro)
NM_000264.5(PTCH1):c.3418C>G (p.Leu1140Val)
NM_000264.5(PTCH1):c.341T>G (p.Val114Gly)
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=) rs745948150
NM_000264.5(PTCH1):c.3428C>G (p.Ser1143Cys)
NM_000264.5(PTCH1):c.3429T>A (p.Ser1143=) rs778900289
NM_000264.5(PTCH1):c.3432G>T (p.Glu1144Asp)
NM_000264.5(PTCH1):c.3443T>A (p.Ile1148Asn)
NM_000264.5(PTCH1):c.3443T>G (p.Ile1148Ser)
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+255G>T
NM_000264.5(PTCH1):c.3449+3A>G rs201942643
NM_000264.5(PTCH1):c.3449+6C>T rs2136630772
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.3457T>C (p.Phe1153Leu)
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.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.3470C>T (p.Ala1157Val)
NM_000264.5(PTCH1):c.3471G>T (p.Ala1157=)
NM_000264.5(PTCH1):c.3474C>G (p.Ile1158Met)
NM_000264.5(PTCH1):c.3476T>C (p.Leu1159Pro) rs1588519508
NM_000264.5(PTCH1):c.3478A>G (p.Thr1160Ala)
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.3481A>G (p.Ile1161Val) rs202102540
NM_000264.5(PTCH1):c.3484C>T (p.Leu1162Phe) rs2136608105
NM_000264.5(PTCH1):c.3493C>G (p.Leu1165Val)
NM_000264.5(PTCH1):c.3497A>G (p.Asn1166Ser) rs1271099813
NM_000264.5(PTCH1):c.3503T>A (p.Leu1168Gln)
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.3514_3522del (p.Pro1172_Leu1174del) rs1838308465
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.3525G>A (p.Leu1175=)
NM_000264.5(PTCH1):c.3527C>G (p.Ser1176Cys) rs864622160
NM_000264.5(PTCH1):c.352G>C (p.Ala118Pro)
NM_000264.5(PTCH1):c.3538C>G (p.Pro1180Ala) rs1314555601
NM_000264.5(PTCH1):c.3539C>T (p.Pro1180Leu)
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+4A>T
NM_000264.5(PTCH1):c.3549+5G>T rs565899674
NM_000264.5(PTCH1):c.3549G>A (p.Glu1183=)
NM_000264.5(PTCH1):c.3550-10C>A rs2136603294
NM_000264.5(PTCH1):c.3550-4A>G rs1838244885
NM_000264.5(PTCH1):c.3550G>A (p.Val1184Met)
NM_000264.5(PTCH1):c.3551T>C (p.Val1184Ala)
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.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.3569T>C (p.Leu1190Ser)
NM_000264.5(PTCH1):c.3574C>A (p.Arg1192Ser)
NM_000264.5(PTCH1):c.3575G>T (p.Arg1192Leu) rs762040036
NM_000264.5(PTCH1):c.3578T>A (p.Leu1193Gln)
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg) rs1838236724
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.3587C>A (p.Pro1196His) rs1217566464
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.3601C>T (p.Pro1201Ser) rs1838233287
NM_000264.5(PTCH1):c.3602C>A (p.Pro1201His) rs1838233041
NM_000264.5(PTCH1):c.3604C>A (p.Pro1202Thr)
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.3606dup (p.Ser1203fs)
NM_000264.5(PTCH1):c.3608dup (p.Ser1203fs)
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.3613G>A (p.Val1205Ile) rs1588517620
NM_000264.5(PTCH1):c.3614T>A (p.Val1205Asp) rs775882469
NM_000264.5(PTCH1):c.3614T>C (p.Val1205Ala)
NM_000264.5(PTCH1):c.3614T>G (p.Val1205Gly)
NM_000264.5(PTCH1):c.3616C>G (p.Arg1206Gly)
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.3627G>A (p.Met1209Ile) rs1838227370
NM_000264.5(PTCH1):c.3628C>T (p.Pro1210Ser)
NM_000264.5(PTCH1):c.362T>C (p.Leu121Pro)
NM_000264.5(PTCH1):c.3633del (p.Gly1212fs) rs2136600953
NM_000264.5(PTCH1):c.3635G>A (p.Gly1212Asp)
NM_000264.5(PTCH1):c.3639C>G (p.His1213Gln)
NM_000264.5(PTCH1):c.3640A>G (p.Thr1214Ala) rs1564008713
NM_000264.5(PTCH1):c.3640A>T (p.Thr1214Ser)
NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn) rs1554689404
NM_000264.5(PTCH1):c.3643C>T (p.His1215Tyr)
NM_000264.5(PTCH1):c.3644A>G (p.His1215Arg)
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.364_369dup (p.Thr123_Asn124insGluThr)
NM_000264.5(PTCH1):c.3650G>C (p.Gly1217Ala)
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.3656A>T (p.Asp1219Val) rs2136600284
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.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.3667T>G (p.Ser1223Ala)
NM_000264.5(PTCH1):c.3670G>C (p.Glu1224Gln)
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.3681_3682del (p.Gln1228fs)
NM_000264.5(PTCH1):c.3683A>G (p.Gln1228Arg) rs1838218958
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.3698G>A (p.Gly1233Asp)
NM_000264.5(PTCH1):c.3701T>C (p.Leu1234Pro) rs1838217335
NM_000264.5(PTCH1):c.3705C>A (p.Ser1235Arg) rs1051927200
NM_000264.5(PTCH1):c.3709G>A (p.Glu1237Lys)
NM_000264.5(PTCH1):c.3712C>T (p.Leu1238Phe)
NM_000264.5(PTCH1):c.3716G>C (p.Arg1239Pro) rs758728491
NM_000264.5(PTCH1):c.3718C>T (p.His1240Tyr) rs2136598509
NM_000264.5(PTCH1):c.3719A>C (p.His1240Pro)
NM_000264.5(PTCH1):c.3721_3765del (p.Tyr1241_Ile1255del) rs760239449
NM_000264.5(PTCH1):c.3722A>C (p.Tyr1241Ser)
NM_000264.5(PTCH1):c.3725A>C (p.Glu1242Ala)
NM_000264.5(PTCH1):c.3726G>C (p.Glu1242Asp) rs1838214724
NM_000264.5(PTCH1):c.3727G>A (p.Ala1243Thr)
NM_000264.5(PTCH1):c.3728C>T (p.Ala1243Val)
NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys) rs763779667
NM_000264.5(PTCH1):c.3730C>T (p.Gln1244Ter) rs2136598174
NM_000264.5(PTCH1):c.3731_3749del (p.Gln1244fs) rs2136597743
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.3735_3758del (p.Gly1246_Gln1253del)
NM_000264.5(PTCH1):c.3736G>A (p.Gly1246Ser)
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.3742G>A (p.Gly1248Arg) rs2136597903
NM_000264.5(PTCH1):c.3743G>C (p.Gly1248Ala) rs375857496
NM_000264.5(PTCH1):c.3743G>T (p.Gly1248Val)
NM_000264.5(PTCH1):c.3743del (p.Gly1248fs)
NM_000264.5(PTCH1):c.3745G>A (p.Gly1249Ser)
NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg) rs769446796
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.3761T>C (p.Val1254Ala)
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>T (p.Val1256Leu)
NM_000264.5(PTCH1):c.3769G>A (p.Glu1257Lys) rs750397931
NM_000264.5(PTCH1):c.3775A>C (p.Thr1259Pro) rs1838207256
NM_000264.5(PTCH1):c.3775A>G (p.Thr1259Ala)
NM_000264.5(PTCH1):c.3776C>T (p.Thr1259Ile) rs2136597007
NM_000264.5(PTCH1):c.3778G>T (p.Glu1260Ter) rs1131690988
NM_000264.5(PTCH1):c.3779A>G (p.Glu1260Gly)
NM_000264.5(PTCH1):c.3783C>G (p.Asn1261Lys)
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.3792C>A (p.Phe1264Leu)
NM_000264.5(PTCH1):c.3792C>G (p.Phe1264Leu) rs144312968
NM_000264.5(PTCH1):c.3793G>T (p.Ala1265Ser) rs759791227
NM_000264.5(PTCH1):c.3796C>A (p.His1266Asn)
NM_000264.5(PTCH1):c.3798C>A (p.His1266Gln)
NM_000264.5(PTCH1):c.3799T>G (p.Ser1267Ala) rs1588516614
NM_000264.5(PTCH1):c.3803C>A (p.Thr1268Asn)
NM_000264.5(PTCH1):c.3803C>G (p.Thr1268Ser) rs1554689262
NM_000264.5(PTCH1):c.3804+2dup rs1588516590
NM_000264.5(PTCH1):c.3804+3_3804+6del
NM_000264.5(PTCH1):c.3805-2A>G
NM_000264.5(PTCH1):c.3805-4G>A rs1060504537
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.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.3824G>C (p.Arg1275Thr)
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.3828T>A (p.His1276Gln)
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>G (p.Pro1279Ala)
NM_000264.5(PTCH1):c.3835C>T (p.Pro1279Ser) rs1166276004
NM_000264.5(PTCH1):c.3836_3837del (p.Pro1279fs) rs1564006281
NM_000264.5(PTCH1):c.3838T>G (p.Ser1280Ala) rs2136584448
NM_000264.5(PTCH1):c.3839C>G (p.Ser1280Trp)
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.3853C>T (p.Gln1285Ter)
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.3859C>T (p.His1287Tyr) rs1838047745
NM_000264.5(PTCH1):c.3860A>C (p.His1287Pro)
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.3863T>A (p.Leu1288Gln)
NM_000264.5(PTCH1):c.3866A>T (p.Asp1289Val) rs1588512163
NM_000264.5(PTCH1):c.3871G>A (p.Gly1291Arg) rs2136583470
NM_000264.5(PTCH1):c.3872G>A (p.Gly1291Glu)
NM_000264.5(PTCH1):c.3883C>G (p.Pro1295Ala)
NM_000264.5(PTCH1):c.3883C>T (p.Pro1295Ser) rs1060502275
NM_000264.5(PTCH1):c.3886G>C (p.Gly1296Arg) rs372828014
NM_000264.5(PTCH1):c.3886G>T (p.Gly1296Ter)
NM_000264.5(PTCH1):c.3887G>T (p.Gly1296Val) rs2136583024
NM_000264.5(PTCH1):c.3888A>T (p.Gly1296=)
NM_000264.5(PTCH1):c.3895G>A (p.Gly1299Ser)
NM_000264.5(PTCH1):c.3896G>T (p.Gly1299Val)
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)
NM_000264.5(PTCH1):c.389T>C (p.Val130Ala)
NM_000264.5(PTCH1):c.3900G>T (p.Gln1300His)
NM_000264.5(PTCH1):c.3901C>G (p.Gln1301Glu)
NM_000264.5(PTCH1):c.3901C>T (p.Gln1301Ter)
NM_000264.5(PTCH1):c.3902A>C (p.Gln1301Pro)
NM_000264.5(PTCH1):c.3902A>G (p.Gln1301Arg)
NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu) rs780042369
NM_000264.5(PTCH1):c.3908G>C (p.Arg1303Pro)
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
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>T (p.Arg1304Ser) rs757702954
NM_000264.5(PTCH1):c.3913G>A (p.Asp1305Asn) rs368528885
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.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.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.3931T>G (p.Leu1311Val)
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.394+2dup rs1587692814
NM_000264.5(PTCH1):c.394+4A>G
NM_000264.5(PTCH1):c.394+6A>T
NM_000264.5(PTCH1):c.3940C>A (p.Pro1314Thr)
NM_000264.5(PTCH1):c.3940C>G (p.Pro1314Ala)
NM_000264.5(PTCH1):c.3941C>A (p.Pro1314His)
NM_000264.5(PTCH1):c.3942_3944delinsAGT (p.Pro1315Val) rs2136581220
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.3944_3945insT (p.Tyr1316fs) rs1838031865
NM_000264.5(PTCH1):c.3945del (p.Tyr1316fs)
NM_000264.5(PTCH1):c.3946T>G (p.Tyr1316Asp)
NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly) rs1482005246
NM_000264.5(PTCH1):c.395-3C>T
NM_000264.5(PTCH1):c.395-6T>G rs1162835966
NM_000264.5(PTCH1):c.3951A>C (p.Arg1317Ser) rs1211632031
NM_000264.5(PTCH1):c.3953C>A (p.Pro1318Gln) rs536440590
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg) rs536440590
NM_000264.5(PTCH1):c.3956G>T (p.Arg1319Leu) rs572658914
NM_000264.5(PTCH1):c.3956_3957delinsTT (p.Arg1319Leu)
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>C (p.Asp1321Ala)
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.3967T>G (p.Phe1323Val)
NM_000264.5(PTCH1):c.3968T>C (p.Phe1323Ser)
NM_000264.5(PTCH1):c.3968T>G (p.Phe1323Cys)
NM_000264.5(PTCH1):c.3971A>G (p.Glu1324Gly)
NM_000264.5(PTCH1):c.3971A>T (p.Glu1324Val)
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.3983A>C (p.Glu1328Ala)
NM_000264.5(PTCH1):c.3989A>G (p.His1330Arg) rs1564005652
NM_000264.5(PTCH1):c.3990T>G (p.His1330Gln)
NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe) rs150373546
NM_000264.5(PTCH1):c.3997C>T (p.Pro1333Ser)
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.4006_4026del (p.Arg1336_Arg1342del)
NM_000264.5(PTCH1):c.4007G>A (p.Arg1336Lys) rs1838019737
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
NM_000264.5(PTCH1):c.4010C>T (p.Ala1337Val)
NM_000264.5(PTCH1):c.4011_4022del (p.Trp1339_Arg1342del)
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.4015T>C (p.Trp1339Arg)
NM_000264.5(PTCH1):c.4015T>G (p.Trp1339Gly)
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>T (p.Gly1340=) rs773564643
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.4027G>T (p.Gly1343Trp) rs200100952
NM_000264.5(PTCH1):c.4031C>T (p.Ala1344Val) rs1060502289
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.4040A>T (p.His1347Leu) rs2136578408
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys) rs1412873206
NM_000264.5(PTCH1):c.4048C>A (p.Arg1350=) 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.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.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>A (p.Ser1359Arg)
NM_000264.5(PTCH1):c.4078T>C (p.Ser1360Pro) rs1838003007
NM_000264.5(PTCH1):c.4078T>G (p.Ser1360Ala)
NM_000264.5(PTCH1):c.4079C>A (p.Ser1360Tyr)
NM_000264.5(PTCH1):c.4081G>T (p.Val1361Leu) rs753535745
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.4091A>G (p.Tyr1364Cys) rs1838000346
NM_000264.5(PTCH1):c.4094G>T (p.Cys1365Phe) rs1397510746
NM_000264.5(PTCH1):c.4096C>T (p.Gln1366Ter)
NM_000264.5(PTCH1):c.4098G>C (p.Gln1366His) rs1588510720
NM_000264.5(PTCH1):c.4100C>G (p.Pro1367Arg)
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.4111G>A (p.Val1371Met) rs1837997469
NM_000264.5(PTCH1):c.4112T>C (p.Val1371Ala)
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.4129G>C (p.Val1377Leu) rs745337014
NM_000264.5(PTCH1):c.4130T>C (p.Val1377Ala)
NM_000264.5(PTCH1):c.4133C>G (p.Thr1378Ser)
NM_000264.5(PTCH1):c.4133C>T (p.Thr1378Ile)
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.4141G>T (p.Val1381Leu) rs187104739
NM_000264.5(PTCH1):c.4142T>C (p.Val1381Ala)
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>A (p.His1382Gln)
NM_000264.5(PTCH1):c.4146C>G (p.His1382Gln) rs1207158056
NM_000264.5(PTCH1):c.4147C>G (p.Pro1383Ala) rs2136575090
NM_000264.5(PTCH1):c.4148del (p.Pro1383fs) rs1837991175
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu) rs754065147
NM_000264.5(PTCH1):c.4157T>A (p.Val1386Asp)
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.4163G>C (p.Gly1388Ala)
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.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.4174A>G (p.Asn1392Asp)
NM_000264.5(PTCH1):c.4175A>C (p.Asn1392Thr)
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>T (p.Pro1393=) rs1057521043
NM_000264.5(PTCH1):c.4180dup (p.Arg1394fs) rs1297699637
NM_000264.5(PTCH1):c.4184G>A (p.Gly1395Glu)
NM_000264.5(PTCH1):c.4184G>T (p.Gly1395Val)
NM_000264.5(PTCH1):c.4185G>T (p.Gly1395=) rs769616992
NM_000264.5(PTCH1):c.4186G>C (p.Gly1396Arg)
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.4187dup (p.Leu1397fs) rs1588510168
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.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.4196C>T (p.Pro1399Leu) rs1564004776
NM_000264.5(PTCH1):c.419T>C (p.Leu140Ser) rs1554702197
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.4204C>A (p.Pro1402Thr)
NM_000264.5(PTCH1):c.4204C>T (p.Pro1402Ser)
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.4214A>T (p.Asp1405Val)
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.422A>T (p.Asn141Ile)
NM_000264.5(PTCH1):c.4230_4231insACTGAG (p.Glu1410_Asp1411insThrGlu) rs1434554186
NM_000264.5(PTCH1):c.4231G>C (p.Asp1411His)
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.4234C>G (p.Pro1412Ala) rs1554688130
NM_000264.5(PTCH1):c.4234C>T (p.Pro1412Ser) rs1554688130
NM_000264.5(PTCH1):c.4235_4236delinsTG (p.Pro1412Leu)
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.4241T>C (p.Val1414Ala)
NM_000264.5(PTCH1):c.4243C>A (p.Pro1415Thr)
NM_000264.5(PTCH1):c.4243C>G (p.Pro1415Ala) rs1837967897
NM_000264.5(PTCH1):c.4243C>T (p.Pro1415Ser)
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.4248_4249delinsTT (p.His1417Tyr)
NM_000264.5(PTCH1):c.4249C>T (p.His1417Tyr)
NM_000264.5(PTCH1):c.4250A>G (p.His1417Arg)
NM_000264.5(PTCH1):c.4251C>A (p.His1417Gln)
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.4255C>A (p.Arg1419=) rs139942632
NM_000264.5(PTCH1):c.4255C>G (p.Arg1419Gly)
NM_000264.5(PTCH1):c.4258T>G (p.Cys1420Gly)
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.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.4268G>T (p.Arg1423Met)
NM_000264.5(PTCH1):c.4269G>T (p.Arg1423Ser)
NM_000264.5(PTCH1):c.4270G>T (p.Asp1424Tyr) rs1837962537
NM_000264.5(PTCH1):c.4271A>T (p.Asp1424Val) rs1588509666
NM_000264.5(PTCH1):c.4276A>G (p.Lys1426Glu)
NM_000264.5(PTCH1):c.4277A>C (p.Lys1426Thr)
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.428C>T (p.Thr143Ile)
NM_000264.5(PTCH1):c.4294C>T (p.Leu1432=)
NM_000264.5(PTCH1):c.4295T>A (p.Leu1432Gln) rs755078405
NM_000264.5(PTCH1):c.4295T>C (p.Leu1432Pro)
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu) rs772802013
NM_000264.5(PTCH1):c.4299G>C (p.Gln1433His)
NM_000264.5(PTCH1):c.4300G>T (p.Asp1434Tyr) rs1564004355
NM_000264.5(PTCH1):c.4301A>G (p.Asp1434Gly) rs2136571074
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.4310G>T (p.Cys1437Phe)
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.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.4330A>G (p.Ser1444Gly)
NM_000264.5(PTCH1):c.4331G>A (p.Ser1444Asn) rs1347860599
NM_000264.5(PTCH1):c.4337C>T (p.Ser1446Phe) rs2136570475
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser) rs972576439
NM_000264.5(PTCH1):c.4341C>A (p.Asn1447Lys)
NM_000264.5(PTCH1):c.4342T>C (p.Ter1448Arg)
NM_000264.5(PTCH1):c.434A>G (p.Gln145Arg)
NM_000264.5(PTCH1):c.435G>T (p.Gln145His)
NM_000264.5(PTCH1):c.439A>G (p.Ile147Val) rs1564063300
NM_000264.5(PTCH1):c.440T>C (p.Ile147Thr) rs1588622790
NM_000264.5(PTCH1):c.450G>T (p.Glu150Asp) rs1588622758
NM_000264.5(PTCH1):c.454A>C (p.Met152Leu)
NM_000264.5(PTCH1):c.456G>A (p.Met152Ile)
NM_000264.5(PTCH1):c.461A>T (p.Asn154Ile) rs1302474403
NM_000264.5(PTCH1):c.468A>C (p.Gln156His) 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.472A>C (p.Met158Leu) rs758656848
NM_000264.5(PTCH1):c.472A>G (p.Met158Val) rs758656848
NM_000264.5(PTCH1):c.473T>C (p.Met158Thr)
NM_000264.5(PTCH1):c.474G>A (p.Met158Ile)
NM_000264.5(PTCH1):c.475A>G (p.Ile159Val) rs1060502288
NM_000264.5(PTCH1):c.476T>C (p.Ile159Thr)
NM_000264.5(PTCH1):c.479A>G (p.Gln160Arg) rs1060502267
NM_000264.5(PTCH1):c.482C>G (p.Thr161Ser)
NM_000264.5(PTCH1):c.484C>T (p.Pro162Ser)
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.490G>A (p.Glu164Lys) rs2118544070
NM_000264.5(PTCH1):c.491A>G (p.Glu164Gly)
NM_000264.5(PTCH1):c.496G>A (p.Gly166Ser) rs2118543729
NM_000264.5(PTCH1):c.500C>T (p.Ala167Val) rs587780707
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.508C>G (p.Leu170Val) rs1841917213
NM_000264.5(PTCH1):c.511A>G (p.Thr171Ala)
NM_000264.5(PTCH1):c.512C>T (p.Thr171Ile) rs1554702106
NM_000264.5(PTCH1):c.517G>A (p.Glu173Lys)
NM_000264.5(PTCH1):c.521C>G (p.Ala174Gly) rs772368023
NM_000264.5(PTCH1):c.528ACA[1] (p.Gln177del) rs864622108
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.540C>G (p.Asp180Glu)
NM_000264.5(PTCH1):c.544G>A (p.Ala182Thr) rs2118539440
NM_000264.5(PTCH1):c.548T>C (p.Leu183Pro)
NM_000264.5(PTCH1):c.551A>G (p.Gln184Arg)
NM_000264.5(PTCH1):c.554C>T (p.Ala185Val) rs1276503562
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.560G>T (p.Arg187Leu) rs138034434
NM_000264.5(PTCH1):c.560_574del (p.Arg187_Met192delinsLeu) rs1841905841
NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
NM_000264.5(PTCH1):c.575T>C (p.Met192Thr)
NM_000264.5(PTCH1):c.575T>G (p.Met192Arg)
NM_000264.5(PTCH1):c.577T>C (p.Tyr193His) rs1841905015
NM_000264.5(PTCH1):c.580A>G (p.Asn194Asp)
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr) rs1554702009
NM_000264.5(PTCH1):c.585-17_585-13del rs776103507
NM_000264.5(PTCH1):c.585-3T>C
NM_000264.5(PTCH1):c.585-4_585-2del
NM_000264.5(PTCH1):c.585G>A (p.Arg195=)
NM_000264.5(PTCH1):c.587A>G (p.Gln196Arg)
NM_000264.5(PTCH1):c.589T>C (p.Trp197Arg) rs1312950307
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.602A>G (p.His201Arg)
NM_000264.5(PTCH1):c.603T>A (p.His201Gln)
NM_000264.5(PTCH1):c.610T>G (p.Tyr204Asp)
NM_000264.5(PTCH1):c.613A>C (p.Lys205Gln) rs1554700724
NM_000264.5(PTCH1):c.614A>C (p.Lys205Thr) rs1841595401
NM_000264.5(PTCH1):c.623A>C (p.Glu208Ala) rs2118473498
NM_000264.5(PTCH1):c.623A>G (p.Glu208Gly)
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.631A>T (p.Thr211Ser)
NM_000264.5(PTCH1):c.638C>G (p.Thr213Arg)
NM_000264.5(PTCH1):c.641G>A (p.Gly214Asp)
NM_000264.5(PTCH1):c.641G>T (p.Gly214Val) rs2118472707
NM_000264.5(PTCH1):c.647T>C (p.Met216Thr)
NM_000264.5(PTCH1):c.649G>T (p.Asp217Tyr)
NM_000264.5(PTCH1):c.654+3A>G rs1131690966
NM_000264.5(PTCH1):c.655A>T (p.Ile219Leu)
NM_000264.5(PTCH1):c.659T>C (p.Ile220Thr)
NM_000264.5(PTCH1):c.660A>G (p.Ile220Met) rs1564057952
NM_000264.5(PTCH1):c.661G>A (p.Glu221Lys) rs1554700647
NM_000264.5(PTCH1):c.663A>C (p.Glu221Asp)
NM_000264.5(PTCH1):c.665A>C (p.Tyr222Ser)
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile) rs1266754583
NM_000264.5(PTCH1):c.667C>T (p.Leu223Phe)
NM_000264.5(PTCH1):c.668T>C (p.Leu223Pro)
NM_000264.5(PTCH1):c.670T>C (p.Tyr224His)
NM_000264.5(PTCH1):c.676T>G (p.Cys226Gly)
NM_000264.5(PTCH1):c.681G>C (p.Leu227Phe)
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.685A>T (p.Ile229Phe)
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000264.5(PTCH1):c.691C>T (p.Pro231Ser) rs1564057856
NM_000264.5(PTCH1):c.700T>C (p.Cys234Arg)
NM_000264.5(PTCH1):c.701G>T (p.Cys234Phe) rs1060502299
NM_000264.5(PTCH1):c.704T>G (p.Phe235Cys)
NM_000264.5(PTCH1):c.715G>A (p.Ala239Thr) rs1841573078
NM_000264.5(PTCH1):c.716C>T (p.Ala239Val)
NM_000264.5(PTCH1):c.725A>G (p.Gln242Arg)
NM_000264.5(PTCH1):c.725A>T (p.Gln242Leu)
NM_000264.5(PTCH1):c.726G>T (p.Gln242His)
NM_000264.5(PTCH1):c.730G>T (p.Gly244Trp)
NM_000264.5(PTCH1):c.731G>A (p.Gly244Glu) rs1588614020
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.734C>T (p.Thr245Ile) rs1841570436
NM_000264.5(PTCH1):c.737C>T (p.Ala246Val)
NM_000264.5(PTCH1):c.742C>G (p.Leu248Val)
NM_000264.5(PTCH1):c.742C>T (p.Leu248Phe) rs1841568646
NM_000264.5(PTCH1):c.746+3A>G rs1841567989
NM_000264.5(PTCH1):c.746+5G>C
NM_000264.5(PTCH1):c.748G>A (p.Gly250Ser)
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.757C>T (p.Pro253Ser)
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.772A>G (p.Asn258Asp)
NM_000264.5(PTCH1):c.778G>C (p.Asp260His)
NM_000264.5(PTCH1):c.779A>C (p.Asp260Ala) rs368102115
NM_000264.5(PTCH1):c.781C>G (p.Pro261Ala)
NM_000264.5(PTCH1):c.781C>T (p.Pro261Ser)
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.799G>A (p.Glu267Lys)
NM_000264.5(PTCH1):c.806A>G (p.Lys269Arg) rs1841454562
NM_000264.5(PTCH1):c.812_814del (p.Ile271del) rs1588610299
NM_000264.5(PTCH1):c.818A>G (p.Tyr273Cys)
NM_000264.5(PTCH1):c.820C>G (p.Gln274Glu) rs2118422378
NM_000264.5(PTCH1):c.829A>G (p.Ser277Gly)
NM_000264.5(PTCH1):c.832T>C (p.Trp278Arg)
NM_000264.5(PTCH1):c.838G>A (p.Glu280Lys)
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.850A>C (p.Lys284Gln) rs1841450813
NM_000264.5(PTCH1):c.856G>A (p.Glu286Lys) rs1841450226
NM_000264.5(PTCH1):c.857A>G (p.Glu286Gly)
NM_000264.5(PTCH1):c.863G>A (p.Gly288Asp)
NM_000264.5(PTCH1):c.866A>G (p.His289Arg)
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.872A>T (p.Tyr291Phe)
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.883C>T (p.Pro295Ser)
NM_000264.5(PTCH1):c.889C>T (p.Leu297Phe) rs1841445491
NM_000264.5(PTCH1):c.892A>C (p.Asn298His) rs1588609918
NM_000264.5(PTCH1):c.892A>G (p.Asn298Asp)
NM_000264.5(PTCH1):c.892A>T (p.Asn298Tyr)
NM_000264.5(PTCH1):c.893A>T (p.Asn298Ile)
NM_000264.5(PTCH1):c.896C>A (p.Pro299Gln) rs141939274
NM_000264.5(PTCH1):c.898G>T (p.Ala300Ser)
NM_000264.5(PTCH1):c.899C>A (p.Ala300Asp)
NM_000264.5(PTCH1):c.899C>G (p.Ala300Gly)
NM_000264.5(PTCH1):c.901G>C (p.Asp301His)
NM_000264.5(PTCH1):c.901G>T (p.Asp301Tyr) rs767601899
NM_000264.5(PTCH1):c.904C>G (p.Pro302Ala) rs1197814180
NM_000264.5(PTCH1):c.904C>T (p.Pro302Ser)
NM_000264.5(PTCH1):c.905C>T (p.Pro302Leu)
NM_000264.5(PTCH1):c.907G>A (p.Asp303Asn)
NM_000264.5(PTCH1):c.910T>A (p.Cys304Ser)
NM_000264.5(PTCH1):c.916G>T (p.Ala306Ser)
NM_000264.5(PTCH1):c.919A>G (p.Thr307Ala)
NM_000264.5(PTCH1):c.923C>G (p.Ala308Gly) rs2118413122
NM_000264.5(PTCH1):c.923C>T (p.Ala308Val)
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>T (p.Ser313Leu)
NM_000264.5(PTCH1):c.940A>G (p.Thr314Ala) rs2118411651
NM_000264.5(PTCH1):c.941C>A (p.Thr314Asn)
NM_000264.5(PTCH1):c.943A>C (p.Lys315Gln)
NM_000264.5(PTCH1):c.943A>G (p.Lys315Glu) rs1564055253
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>T rs1588609575
NM_000264.5(PTCH1):c.945+6dup rs2118410569
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.947C>T (p.Pro316Leu) rs143813198
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe) rs1380199153
NM_000264.5(PTCH1):c.950T>C (p.Leu317Pro)
NM_000264.5(PTCH1):c.953A>T (p.Asp318Val)
NM_000264.5(PTCH1):c.956T>G (p.Met319Arg)
NM_000264.5(PTCH1):c.957G>A (p.Met319Ile)
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.961C>T (p.Leu321Phe)
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.973G>A (p.Gly325Ser) rs1588608738
NM_000264.5(PTCH1):c.983A>G (p.His328Arg)
NM_000264.5(PTCH1):c.983A>T (p.His328Leu) rs1484111496
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_001083603.3(PTCH1):c.109del (p.Cys37fs) rs1554710890
NM_001083603.3(PTCH1):c.130GAA[4] (p.Glu48del) rs112914470
NM_001083603.3(PTCH1):c.147C>G (p.Asn49Lys)
NM_001083603.3(PTCH1):c.17G>C (p.Arg6Thr)
NM_001083603.3(PTCH1):c.198+468G>T rs1445378342
NM_001083603.3(PTCH1):c.2T>C (p.Met1Thr) rs1039069537
NM_001083603.3(PTCH1):c.4del (p.Glu2fs) rs752765582
NM_001083603.3(PTCH1):c.74del (p.Pro25fs) rs1350435311
NM_001083603.3(PTCH1):c.95C>T (p.Thr32Ile)

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