ClinVar Miner

List of variants in gene PTCH1 studied for Gorlin syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3090
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2887+21A>G rs2236406 0.44137
NM_000264.5(PTCH1):c.*3232G>T rs357565 0.24468
NM_000264.5(PTCH1):c.*3030A>G rs28485160 0.20192
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=) rs2066836 0.15395
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=) rs1805155 0.12597
NM_000264.5(PTCH1):c.*2275T>A rs28380046 0.09501
NM_000264.5(PTCH1):c.1504-8T>C rs2277184 0.07277
NM_000264.5(PTCH1):c.*237G>C rs28688501 0.06717
NM_000264.5(PTCH1):c.*1373G>C rs16909865 0.05498
NM_000264.5(PTCH1):c.*1905C>G rs113213198 0.04659
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000264.5(PTCH1):c.*1616A>C rs73540181 0.04606
NM_000264.5(PTCH1):c.*1709G>A rs73540175 0.04602
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=) rs2066835 0.03773
NM_000264.5(PTCH1):c.*1702C>T rs115675849 0.02824
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
NM_000264.5(PTCH1):c.*231T>C rs28401363 0.01898
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_000264.5(PTCH1):c.*1535T>C rs112320257 0.01438
NM_000264.5(PTCH1):c.*1545T>C rs113253600 0.01417
NM_000264.5(PTCH1):c.*2070C>G rs142942544 0.01241
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178 0.01089
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_000264.5(PTCH1):c.*3341T>C rs138499623 0.00884
NM_000264.5(PTCH1):c.*851G>C rs73540186 0.00827
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_000264.5(PTCH1):c.*1066A>C rs185406054 0.00673
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=) rs62637630 0.00663
NM_000264.5(PTCH1):c.*3157G>A rs118174136 0.00628
NM_000264.5(PTCH1):c.*2276A>T rs868749157 0.00625
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00466
NM_000264.5(PTCH1):c.*801C>T rs114243832 0.00412
NM_000264.5(PTCH1):c.*780C>T rs75765727 0.00386
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=) rs111446700 0.00379
NM_000264.5(PTCH1):c.*1708C>T rs146131736 0.00252
NM_000264.5(PTCH1):c.3804+32T>C rs199982439 0.00236
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135 0.00128
NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896 0.00088
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
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.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_000264.5(PTCH1):c.3805-9C>T rs2236404 0.00072
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=) rs56007343 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=) rs145196322 0.00065
NM_000264.5(PTCH1):c.*1896T>C rs949498288 0.00064
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000264.5(PTCH1):c.1503+12G>A rs368083214 0.00056
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
NM_000264.5(PTCH1):c.3449+15G>A rs190483719 0.00052
NM_000264.5(PTCH1):c.*2175G>A rs188061818 0.00051
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000264.5(PTCH1):c.1080G>A (p.Leu360=) rs2066839 0.00049
NM_000264.5(PTCH1):c.3169-17T>A rs375034864 0.00048
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=) rs139123130 0.00048
NM_000264.5(PTCH1):c.1183A>G (p.Ile395Val) rs139498131 0.00043
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_000264.5(PTCH1):c.*450A>C rs192994934 0.00041
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979 0.00041
NM_000264.5(PTCH1):c.945+20G>A rs374618901 0.00040
NM_000264.5(PTCH1):c.*1889G>A rs565918654 0.00037
NM_000264.5(PTCH1):c.3169-12G>A rs371887033 0.00037
NM_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.*787C>T rs144656847 0.00030
NM_000264.5(PTCH1):c.1216-6C>A rs186008764 0.00027
NM_000264.5(PTCH1):c.2704-6T>C rs182321370 0.00025
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.584+14C>T rs372641261 0.00024
NM_000264.5(PTCH1):c.*3138T>C rs548583404 0.00023
NM_000264.5(PTCH1):c.4218C>T (p.His1406=) rs372558350 0.00023
NM_000264.5(PTCH1):c.3195C>T (p.Val1065=) rs370936145 0.00022
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=) rs149398794 0.00021
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967 0.00021
NM_000264.5(PTCH1):c.1488C>T (p.Asn496=) rs577742581 0.00020
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828 0.00020
NM_000264.5(PTCH1):c.1661G>A (p.Ser554Asn) rs148367880 0.00019
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.1728+16T>A rs758961945 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.567T>C (p.His189=) rs150759973 0.00016
NM_000264.5(PTCH1):c.346T>C (p.Leu116=) rs576398790 0.00015
NM_000264.5(PTCH1):c.*1358G>A rs756098510 0.00014
NM_000264.5(PTCH1):c.*2425A>C rs932959120 0.00014
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met) rs149667902 0.00014
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883 0.00014
NM_000264.5(PTCH1):c.2595C>T (p.Thr865=) rs144512837 0.00013
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.3027C>T (p.Tyr1009=) rs747234651 0.00012
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=) rs200435277 0.00012
NM_000264.5(PTCH1):c.896C>T (p.Pro299Leu) rs141939274 0.00012
NM_000264.5(PTCH1):c.2561-7T>C rs112140654 0.00011
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.2859C>T (p.Ala953=) rs142131559 0.00010
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) rs144182921 0.00010
NM_000264.5(PTCH1):c.3716G>A (p.Arg1239Gln) rs758728491 0.00010
NM_000264.5(PTCH1):c.3889C>T (p.Arg1297Trp) rs372027952 0.00010
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His) rs779365332 0.00010
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952 0.00010
NM_000264.5(PTCH1):c.*2795G>T rs773035324 0.00009
NM_000264.5(PTCH1):c.1002T>C (p.Tyr334=) rs145867500 0.00009
NM_000264.5(PTCH1):c.1247C>G (p.Thr416Ser) rs201174718 0.00009
NM_000264.5(PTCH1):c.174C>T (p.Ala58=) rs368563182 0.00009
NM_000264.5(PTCH1):c.2771C>T (p.Thr924Met) rs1456450494 0.00009
NM_000264.5(PTCH1):c.3531C>T (p.Phe1177=) rs587780702 0.00009
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=) rs369295226 0.00009
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606 0.00009
NM_000264.5(PTCH1):c.*2737C>A rs1038475537 0.00008
NM_000264.5(PTCH1):c.*762G>C rs763571205 0.00008
NM_000264.5(PTCH1):c.1308C>T (p.Asp436=) rs148471237 0.00008
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000264.5(PTCH1):c.3792C>T (p.Phe1264=) rs144312968 0.00008
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275 0.00008
NM_000264.5(PTCH1):c.420A>G (p.Leu140=) rs372559495 0.00008
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=) rs201357130 0.00008
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00008
NM_000264.5(PTCH1):c.*1648A>G rs1057515713 0.00007
NM_000264.5(PTCH1):c.201+19C>T rs765308113 0.00007
NM_000264.5(PTCH1):c.2794G>A (p.Val932Ile) rs376084632 0.00007
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629 0.00007
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg) rs767792734 0.00007
NM_000264.5(PTCH1):c.3805-14C>G rs771678354 0.00007
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=) rs139071993 0.00007
NM_000264.5(PTCH1):c.882C>T (p.Arg294=) rs145893445 0.00007
NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu) rs370755364 0.00007
NM_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.1713G>T (p.Arg571=) rs762575636 0.00006
NM_000264.5(PTCH1):c.2689A>G (p.Ile897Val) rs758483793 0.00006
NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn) rs531947455 0.00006
NM_000264.5(PTCH1):c.3449+11G>A rs568528640 0.00006
NM_000264.5(PTCH1):c.3516C>T (p.Pro1172=) rs775292833 0.00006
NM_000264.5(PTCH1):c.3648C>T (p.Ser1216=) rs377608291 0.00006
NM_000264.5(PTCH1):c.4025G>A (p.Arg1342His) rs575146278 0.00006
NM_000264.5(PTCH1):c.4134T>C (p.Thr1378=) rs775499386 0.00006
NM_000264.5(PTCH1):c.4212T>C (p.Thr1404=) rs139086753 0.00006
NM_000264.5(PTCH1):c.4255C>T (p.Arg1419Trp) rs139942632 0.00006
NM_000264.5(PTCH1):c.4311C>T (p.Cys1437=) rs368571026 0.00006
NM_000264.5(PTCH1):c.946-13C>T rs200749389 0.00006
NM_000264.5(PTCH1):c.1404C>T (p.Ala468=) rs201246004 0.00005
NM_000264.5(PTCH1):c.2704-10G>A rs566679986 0.00005
NM_000264.5(PTCH1):c.2704-11C>T rs779097397 0.00005
NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln) rs201118857 0.00005
NM_000264.5(PTCH1):c.3178C>T (p.Leu1060=) rs765072884 0.00005
NM_000264.5(PTCH1):c.3561C>G (p.Ala1187=) rs1161608601 0.00005
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His) rs771238114 0.00005
NM_000264.5(PTCH1):c.4256G>A (p.Arg1419Gln) rs372686352 0.00005
NM_000264.5(PTCH1):c.*1153C>G rs770443972 0.00004
NM_000264.5(PTCH1):c.1063G>A (p.Val355Ile) rs555332902 0.00004
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 0.00004
NM_000264.5(PTCH1):c.1223A>G (p.His408Arg) rs763941524 0.00004
NM_000264.5(PTCH1):c.1388C>G (p.Ser463Cys) rs764195249 0.00004
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser) rs181192122 0.00004
NM_000264.5(PTCH1):c.1710G>T (p.Leu570=) rs374924167 0.00004
NM_000264.5(PTCH1):c.2561-10C>T rs763935951 0.00004
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573 0.00004
NM_000264.5(PTCH1):c.2703+14T>C rs764551190 0.00004
NM_000264.5(PTCH1):c.2814G>A (p.Gln938=) rs587780534 0.00004
NM_000264.5(PTCH1):c.2865C>T (p.Tyr955=) rs764854579 0.00004
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val) rs587780699 0.00004
NM_000264.5(PTCH1):c.2892G>A (p.Pro964=) rs377213209 0.00004
NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met) rs769924767 0.00004
NM_000264.5(PTCH1):c.3169-11C>T rs377346472 0.00004
NM_000264.5(PTCH1):c.3338G>A (p.Arg1113His) rs143781513 0.00004
NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=) rs369760318 0.00004
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val) rs376844749 0.00004
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn) rs749542089 0.00004
NM_000264.5(PTCH1):c.3450-15C>T rs755474627 0.00004
NM_000264.5(PTCH1):c.3549+14C>T rs753297713 0.00004
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His) rs762040036 0.00004
NM_000264.5(PTCH1):c.3669G>A (p.Ser1223=) rs780515178 0.00004
NM_000264.5(PTCH1):c.3752C>A (p.Ala1251Asp) rs747739936 0.00004
NM_000264.5(PTCH1):c.3786C>T (p.Pro1262=) rs756182319 0.00004
NM_000264.5(PTCH1):c.3817G>A (p.Glu1273Lys) rs749244396 0.00004
NM_000264.5(PTCH1):c.3840G>A (p.Ser1280=) rs750770371 0.00004
NM_000264.5(PTCH1):c.394+12C>T rs371356396 0.00004
NM_000264.5(PTCH1):c.3948C>T (p.Tyr1316=) rs778029634 0.00004
NM_000264.5(PTCH1):c.3960A>G (p.Arg1320=) rs371761874 0.00004
NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys) rs781539921 0.00004
NM_000264.5(PTCH1):c.404G>A (p.Arg135Gln) rs375628555 0.00004
NM_000264.5(PTCH1):c.4059G>A (p.Ala1353=) rs368110756 0.00004
NM_000264.5(PTCH1):c.4076G>A (p.Ser1359Asn) rs745451899 0.00004
NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=) rs375588552 0.00004
NM_000264.5(PTCH1):c.4137C>T (p.Val1379=) rs149091602 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000264.5(PTCH1):c.4275G>A (p.Ser1425=) rs756270271 0.00004
NM_000264.5(PTCH1):c.4281G>A (p.Val1427=) rs767698482 0.00004
NM_000264.5(PTCH1):c.584+10G>A rs765713791 0.00004
NM_000264.5(PTCH1):c.584+19A>G rs374707429 0.00004
NM_000264.5(PTCH1):c.588G>A (p.Gln196=) rs775859621 0.00004
NM_000264.5(PTCH1):c.624G>A (p.Glu208=) rs777231059 0.00004
NM_000264.5(PTCH1):c.897G>A (p.Pro299=) rs56141639 0.00004
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln) rs185570125 0.00004
NM_000264.5(PTCH1):c.*153T>C rs576864680 0.00003
NM_000264.5(PTCH1):c.*2180C>T rs1357696436 0.00003
NM_000264.5(PTCH1):c.*3111G>A rs1395471972 0.00003
NM_000264.5(PTCH1):c.*556G>A rs964764151 0.00003
NM_000264.5(PTCH1):c.1164C>T (p.Asn388=) rs201602238 0.00003
NM_000264.5(PTCH1):c.1215+19C>T rs755461123 0.00003
NM_000264.5(PTCH1):c.1293G>A (p.Leu431=) rs200313703 0.00003
NM_000264.5(PTCH1):c.1347+10G>A rs370916305 0.00003
NM_000264.5(PTCH1):c.1347+15C>T rs377622963 0.00003
NM_000264.5(PTCH1):c.1348-4G>A rs772826555 0.00003
NM_000264.5(PTCH1):c.1350C>T (p.Leu450=) rs369109033 0.00003
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile) rs766898310 0.00003
NM_000264.5(PTCH1):c.1473C>T (p.Ile491=) rs768183391 0.00003
NM_000264.5(PTCH1):c.1608G>A (p.Arg536=) rs747086234 0.00003
NM_000264.5(PTCH1):c.201+16T>C rs766739273 0.00003
NM_000264.5(PTCH1):c.208G>A (p.Ala70Thr) rs753960393 0.00003
NM_000264.5(PTCH1):c.2751C>T (p.Ser917=) rs768127089 0.00003
NM_000264.5(PTCH1):c.2788G>A (p.Asp930Asn) rs539755311 0.00003
NM_000264.5(PTCH1):c.2792C>G (p.Pro931Arg) rs772928587 0.00003
NM_000264.5(PTCH1):c.2850C>T (p.His950=) rs200776583 0.00003
NM_000264.5(PTCH1):c.2887+19G>C rs778051088 0.00003
NM_000264.5(PTCH1):c.2988C>T (p.Thr996=) rs759501618 0.00003
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val) rs774440323 0.00003
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=) rs751797047 0.00003
NM_000264.5(PTCH1):c.3201G>C (p.Leu1067=) rs370906015 0.00003
NM_000264.5(PTCH1):c.3240C>T (p.Ala1080=) rs200347952 0.00003
NM_000264.5(PTCH1):c.3246C>T (p.Pro1082=) rs750725851 0.00003
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=) rs141016655 0.00003
NM_000264.5(PTCH1):c.3371C>T (p.Ala1124Val) rs374187104 0.00003
NM_000264.5(PTCH1):c.3390C>T (p.Ala1130=) rs762637887 0.00003
NM_000264.5(PTCH1):c.3540A>G (p.Pro1180=) rs930364103 0.00003
NM_000264.5(PTCH1):c.3616C>T (p.Arg1206Cys) rs772537644 0.00003
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu) rs781062564 0.00003
NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser) rs559827048 0.00003
NM_000264.5(PTCH1):c.3639C>T (p.His1213=) rs761797443 0.00003
NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met) rs200029534 0.00003
NM_000264.5(PTCH1):c.3739G>A (p.Ala1247Thr) rs369966295 0.00003
NM_000264.5(PTCH1):c.3758A>G (p.Gln1253Arg) rs146390067 0.00003
NM_000264.5(PTCH1):c.379G>A (p.Glu127Lys) rs774822170 0.00003
NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile) rs938997251 0.00003
NM_000264.5(PTCH1):c.3881C>T (p.Pro1294Leu) rs767166469 0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 0.00003
NM_000264.5(PTCH1):c.3904C>T (p.Pro1302Ser) rs747093389 0.00003
NM_000264.5(PTCH1):c.4012C>T (p.Arg1338Cys) rs374346190 0.00003
NM_000264.5(PTCH1):c.4087G>A (p.Gly1363Ser) rs767625820 0.00003
NM_000264.5(PTCH1):c.4140C>T (p.Ala1380=) rs752595145 0.00003
NM_000264.5(PTCH1):c.4144C>T (p.His1382Tyr) rs377484697 0.00003
NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp) rs45535032 0.00003
NM_000264.5(PTCH1):c.4181G>A (p.Arg1394Gln) rs748812637 0.00003
NM_000264.5(PTCH1):c.4185G>A (p.Gly1395=) rs769616992 0.00003
NM_000264.5(PTCH1):c.4186G>A (p.Gly1396Arg) rs1060502276 0.00003
NM_000264.5(PTCH1):c.4251C>T (p.His1417=) rs371960721 0.00003
NM_000264.5(PTCH1):c.4312G>A (p.Glu1438Lys) rs768254901 0.00003
NM_000264.5(PTCH1):c.4321C>T (p.Pro1441Ser) rs746800536 0.00003
NM_000264.5(PTCH1):c.543G>A (p.Ser181=) rs1461606997 0.00003
NM_000264.5(PTCH1):c.654+13C>G rs746323188 0.00003
NM_000264.5(PTCH1):c.655-12T>C rs376472172 0.00003
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro) rs372422922 0.00003
NM_000264.5(PTCH1):c.899C>T (p.Ala300Val) rs1421967825 0.00003
NM_000264.5(PTCH1):c.900C>T (p.Ala300=) rs201962105 0.00003
NM_000264.5(PTCH1):c.930C>T (p.Asn310=) rs768166430 0.00003
NM_000264.5(PTCH1):c.945+19C>T rs538776608 0.00003
NM_000264.5(PTCH1):c.975T>C (p.Gly325=) rs149018937 0.00003
NM_000264.5(PTCH1):c.*1167A>G rs192352160 0.00002
NM_000264.5(PTCH1):c.*1220A>G rs930382710 0.00002
NM_000264.5(PTCH1):c.*1885G>A rs892705165 0.00002
NM_000264.5(PTCH1):c.1039G>C (p.Val347Leu) rs1060502279 0.00002
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn) rs779294007 0.00002
NM_000264.5(PTCH1):c.1058A>G (p.Lys353Arg) rs757579309 0.00002
NM_000264.5(PTCH1):c.1067+14C>T rs759069478 0.00002
NM_000264.5(PTCH1):c.1067G>A (p.Ser356Asn) rs764579762 0.00002
NM_000264.5(PTCH1):c.1069G>A (p.Ala357Thr) rs779204091 0.00002
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys) rs144323077 0.00002
NM_000264.5(PTCH1):c.1140G>A (p.Glu380=) rs764896299 0.00002
NM_000264.5(PTCH1):c.1192G>A (p.Ala398Thr) rs937023804 0.00002
NM_000264.5(PTCH1):c.1207T>C (p.Tyr403His) rs1349048226 0.00002
NM_000264.5(PTCH1):c.1215+14C>T rs367857273 0.00002
NM_000264.5(PTCH1):c.1216-10G>A rs587780691 0.00002
NM_000264.5(PTCH1):c.1275G>A (p.Thr425=) rs150837425 0.00002
NM_000264.5(PTCH1):c.1324G>A (p.Val442Met) rs759493890 0.00002
NM_000264.5(PTCH1):c.1332C>T (p.Ser444=) rs373930674 0.00002
NM_000264.5(PTCH1):c.1348-20C>T rs771558986 0.00002
NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr) rs142791675 0.00002
NM_000264.5(PTCH1):c.1376G>A (p.Arg459His) rs140537949 0.00002
NM_000264.5(PTCH1):c.1504-3dup rs762810537 0.00002
NM_000264.5(PTCH1):c.1551T>C (p.Leu517=) rs983687905 0.00002
NM_000264.5(PTCH1):c.1593C>T (p.Ile531=) rs587780694 0.00002
NM_000264.5(PTCH1):c.1629C>T (p.Arg543=) rs557468315 0.00002
NM_000264.5(PTCH1):c.217C>T (p.Arg73Trp) rs751511116 0.00002
NM_000264.5(PTCH1):c.237G>A (p.Leu79=) rs547602299 0.00002
NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys) rs151310492 0.00002
NM_000264.5(PTCH1):c.2610A>C (p.Pro870=) rs762087413 0.00002
NM_000264.5(PTCH1):c.2793C>T (p.Pro931=) rs1162747889 0.00002
NM_000264.5(PTCH1):c.2797G>A (p.Ala933Thr) rs373120584 0.00002
NM_000264.5(PTCH1):c.2938G>A (p.Gly980Ser) rs778337760 0.00002
NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=) rs142362404 0.00002
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=) rs755755175 0.00002
NM_000264.5(PTCH1):c.3067G>A (p.Gly1023Ser) rs752317944 0.00002
NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met) rs760902564 0.00002
NM_000264.5(PTCH1):c.3124G>A (p.Val1042Met) rs772406487 0.00002
NM_000264.5(PTCH1):c.3159C>T (p.Ala1053=) rs780700622 0.00002
NM_000264.5(PTCH1):c.3183G>A (p.Ala1061=) rs878853854 0.00002
NM_000264.5(PTCH1):c.3222C>T (p.Ile1074=) rs749448606 0.00002
NM_000264.5(PTCH1):c.3298G>A (p.Val1100Ile) rs577110118 0.00002
NM_000264.5(PTCH1):c.3391G>A (p.Val1131Met) rs566619057 0.00002
NM_000264.5(PTCH1):c.3429T>C (p.Ser1143=) rs778900289 0.00002
NM_000264.5(PTCH1):c.3541T>C (p.Tyr1181His) rs367784268 0.00002
NM_000264.5(PTCH1):c.3610G>A (p.Val1204Met) rs370675945 0.00002
NM_000264.5(PTCH1):c.3621C>T (p.Phe1207=) rs778335980 0.00002
NM_000264.5(PTCH1):c.3623C>T (p.Ala1208Val) rs914090288 0.00002
NM_000264.5(PTCH1):c.3631C>T (p.Pro1211Ser) rs139495263 0.00002
NM_000264.5(PTCH1):c.3642G>A (p.Thr1214=) rs143974523 0.00002
NM_000264.5(PTCH1):c.3649G>A (p.Gly1217Arg) rs768986314 0.00002
NM_000264.5(PTCH1):c.3676A>G (p.Ser1226Gly) rs890755179 0.00002
NM_000264.5(PTCH1):c.3686C>T (p.Thr1229Met) rs781080456 0.00002
NM_000264.5(PTCH1):c.3724G>A (p.Glu1242Lys) rs779417284 0.00002
NM_000264.5(PTCH1):c.3741G>A (p.Ala1247=) rs772544302 0.00002
NM_000264.5(PTCH1):c.3793G>A (p.Ala1265Thr) rs759791227 0.00002
NM_000264.5(PTCH1):c.382C>T (p.Leu128=) rs772674190 0.00002
NM_000264.5(PTCH1):c.3846G>A (p.Pro1282=) rs754412168 0.00002
NM_000264.5(PTCH1):c.388G>A (p.Val130Met) rs746339472 0.00002
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr) rs368528885 0.00002
NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp) rs773043616 0.00002
NM_000264.5(PTCH1):c.3956G>A (p.Arg1319His) rs572658914 0.00002
NM_000264.5(PTCH1):c.3965C>G (p.Ala1322Gly) rs1054532927 0.00002
NM_000264.5(PTCH1):c.3987G>A (p.Gly1329=) rs539319573 0.00002
NM_000264.5(PTCH1):c.3996C>T (p.Gly1332=) rs1343640252 0.00002
NM_000264.5(PTCH1):c.4026C>T (p.Arg1342=) rs576944494 0.00002
NM_000264.5(PTCH1):c.4030G>T (p.Ala1344Ser) rs765017975 0.00002
NM_000264.5(PTCH1):c.4034G>A (p.Arg1345His) rs766315655 0.00002
NM_000264.5(PTCH1):c.4081G>A (p.Val1361Met) rs753535745 0.00002
NM_000264.5(PTCH1):c.4085C>T (p.Pro1362Leu) rs777731495 0.00002
NM_000264.5(PTCH1):c.4129G>A (p.Val1377Met) rs745337014 0.00002
NM_000264.5(PTCH1):c.4148C>T (p.Pro1383Leu) rs571030658 0.00002
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu) rs146447673 0.00002
NM_000264.5(PTCH1):c.4172G>A (p.Arg1391Gln) rs773676486 0.00002
NM_000264.5(PTCH1):c.4176C>T (p.Asn1392=) rs770479209 0.00002
NM_000264.5(PTCH1):c.4210A>G (p.Thr1404Ala) rs201873008 0.00002
NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu) rs766849993 0.00002
NM_000264.5(PTCH1):c.4274C>T (p.Ser1425Leu) rs587778630 0.00002
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly) rs150696398 0.00002
NM_000264.5(PTCH1):c.4322C>T (p.Pro1441Leu) rs775192032 0.00002
NM_000264.5(PTCH1):c.521C>T (p.Ala174Val) rs772368023 0.00002
NM_000264.5(PTCH1):c.584+13G>A rs529799940 0.00002
NM_000264.5(PTCH1):c.654+4T>C rs758839801 0.00002
NM_000264.5(PTCH1):c.655-5G>T rs776683312 0.00002
NM_000264.5(PTCH1):c.658A>G (p.Ile220Val) rs768776930 0.00002
NM_000264.5(PTCH1):c.724C>G (p.Gln242Glu) rs376353501 0.00002
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn) rs767601899 0.00002
NM_000264.5(PTCH1):c.924C>A (p.Ala308=) rs765750044 0.00002
NM_000264.5(PTCH1):c.946-13del rs777246500 0.00002
NM_000264.5(PTCH1):c.955A>G (p.Met319Val) rs1438545679 0.00002
NM_000264.5(PTCH1):c.*1556T>G rs572321616 0.00001
NM_000264.5(PTCH1):c.*1904T>C rs992648722 0.00001
NM_000264.5(PTCH1):c.*2001C>T rs531230280 0.00001
NM_000264.5(PTCH1):c.*2096G>A rs1331556943 0.00001
NM_000264.5(PTCH1):c.*3080G>T rs1006981555 0.00001
NM_000264.5(PTCH1):c.*3209T>C rs757611119 0.00001
NM_000264.5(PTCH1):c.1001A>G (p.Tyr334Cys) rs1841406856 0.00001
NM_000264.5(PTCH1):c.1020G>A (p.Glu340=) rs748171767 0.00001
NM_000264.5(PTCH1):c.1024A>C (p.Ile342Leu) rs1245184042 0.00001
NM_000264.5(PTCH1):c.1025T>C (p.Ile342Thr) rs1841403085 0.00001
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala) rs962982192 0.00001
NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg) rs1476325987 0.00001
NM_000264.5(PTCH1):c.1067+15G>A rs773933111 0.00001
NM_000264.5(PTCH1):c.1068-8T>C rs1194212093 0.00001
NM_000264.5(PTCH1):c.1068-9G>A rs863224344 0.00001
NM_000264.5(PTCH1):c.1068C>T (p.Ser356=) rs1051875027 0.00001
NM_000264.5(PTCH1):c.1083G>A (p.Gln361=) rs1554699269 0.00001
NM_000264.5(PTCH1):c.1086C>T (p.Thr362=) rs777969745 0.00001
NM_000264.5(PTCH1):c.1099A>G (p.Met367Val) rs753152792 0.00001
NM_000264.5(PTCH1):c.1104T>C (p.Thr368=) rs1436332323 0.00001
NM_000264.5(PTCH1):c.1109A>G (p.Lys370Arg) rs768024586 0.00001
NM_000264.5(PTCH1):c.1110G>A (p.Lys370=) rs758977865 0.00001
NM_000264.5(PTCH1):c.1116G>T (p.Met372Ile) rs1841328115 0.00001
NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu) rs863224648 0.00001
NM_000264.5(PTCH1):c.1137C>T (p.Tyr379=) rs587780690 0.00001
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys) rs772903899 0.00001
NM_000264.5(PTCH1):c.1146C>T (p.Val382=) rs761718160 0.00001
NM_000264.5(PTCH1):c.1176G>A (p.Ala392=) rs878853844 0.00001
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091 0.00001
NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val) rs375098989 0.00001
NM_000264.5(PTCH1):c.1200G>T (p.Gln400His) rs1277111019 0.00001
NM_000264.5(PTCH1):c.1206A>G (p.Thr402=) rs1234871751 0.00001
NM_000264.5(PTCH1):c.1215+10C>T rs1444052168 0.00001
NM_000264.5(PTCH1):c.1216G>A (p.Val406Met) rs756949381 0.00001
NM_000264.5(PTCH1):c.1218G>A (p.Val406=) rs753586235 0.00001
NM_000264.5(PTCH1):c.1233C>T (p.Val411=) rs752518133 0.00001
NM_000264.5(PTCH1):c.1238A>G (p.Gln413Arg) rs975634341 0.00001
NM_000264.5(PTCH1):c.1246A>G (p.Thr416Ala) rs952195482 0.00001
NM_000264.5(PTCH1):c.1248T>G (p.Thr416=) rs863224345 0.00001
NM_000264.5(PTCH1):c.1262C>G (p.Ser421Cys) rs1285775586 0.00001
NM_000264.5(PTCH1):c.1274C>T (p.Thr425Met) rs768956985 0.00001
NM_000264.5(PTCH1):c.1277C>T (p.Thr426Ile) rs755787454 0.00001
NM_000264.5(PTCH1):c.1284C>T (p.Asp428=) rs1164371538 0.00001
NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr) rs778455544 0.00001
NM_000264.5(PTCH1):c.1317C>T (p.Val439=) rs755904085 0.00001
NM_000264.5(PTCH1):c.1318A>G (p.Ile440Val) rs752530755 0.00001
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His) rs767273237 0.00001
NM_000264.5(PTCH1):c.1335C>A (p.Gly445=) rs537660949 0.00001
NM_000264.5(PTCH1):c.1347+16A>G rs779587353 0.00001
NM_000264.5(PTCH1):c.1347+17T>C rs373179629 0.00001
NM_000264.5(PTCH1):c.1347+19C>T rs748811098 0.00001
NM_000264.5(PTCH1):c.1347+5C>T rs567257548 0.00001
NM_000264.5(PTCH1):c.1347+9C>T rs775905392 0.00001
NM_000264.5(PTCH1):c.1353C>G (p.Ala451=) rs754741810 0.00001
NM_000264.5(PTCH1):c.1353C>T (p.Ala451=) rs754741810 0.00001
NM_000264.5(PTCH1):c.1391A>G (p.Lys464Arg) rs756171491 0.00001
NM_000264.5(PTCH1):c.1407G>A (p.Val469=) rs1378167817 0.00001
NM_000264.5(PTCH1):c.1413G>A (p.Leu471=) rs1588600742 0.00001
NM_000264.5(PTCH1):c.1419C>T (p.Gly473=) rs774841100 0.00001
NM_000264.5(PTCH1):c.1431T>C (p.Val477=) rs147162848 0.00001
NM_000264.5(PTCH1):c.1461G>A (p.Leu487=) rs1398912905 0.00001
NM_000264.5(PTCH1):c.1467A>G (p.Ser489=) rs747623182 0.00001
NM_000264.5(PTCH1):c.1489G>A (p.Ala497Thr) rs1398130707 0.00001
NM_000264.5(PTCH1):c.1503+19A>T rs201193230 0.00001
NM_000264.5(PTCH1):c.1503+6A>G rs1841148776 0.00001
NM_000264.5(PTCH1):c.1503+9G>A rs1188833495 0.00001
NM_000264.5(PTCH1):c.1504-4del rs1182409968 0.00001
NM_000264.5(PTCH1):c.1519G>A (p.Ala507Thr) rs745669155 0.00001
NM_000264.5(PTCH1):c.1552C>T (p.Leu518=) rs1163742413 0.00001
NM_000264.5(PTCH1):c.1557C>T (p.Ala519=) rs749296474 0.00001
NM_000264.5(PTCH1):c.1560C>T (p.His520=) rs952270018 0.00001
NM_000264.5(PTCH1):c.1603-16G>T rs1269440132 0.00001
NM_000264.5(PTCH1):c.1603-9T>A rs1471375018 0.00001
NM_000264.5(PTCH1):c.1625A>G (p.Lys542Arg) rs758673714 0.00001
NM_000264.5(PTCH1):c.1628G>A (p.Arg543His) rs150284288 0.00001
NM_000264.5(PTCH1):c.1638C>T (p.Ala546=) rs756682973 0.00001
NM_000264.5(PTCH1):c.1642G>A (p.Val548Met) rs575035810 0.00001
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val) rs759078774 0.00001
NM_000264.5(PTCH1):c.164A>T (p.Tyr55Phe) rs1205081001 0.00001
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=) rs766039170 0.00001
NM_000264.5(PTCH1):c.1669A>G (p.Thr557Ala) rs772312984 0.00001
NM_000264.5(PTCH1):c.166T>G (p.Cys56Gly) rs1340609158 0.00001
NM_000264.5(PTCH1):c.1674C>T (p.Ala558=) rs1227537345 0.00001
NM_000264.5(PTCH1):c.1704C>T (p.Pro568=) rs912977281 0.00001
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln) rs377566861 0.00001
NM_000264.5(PTCH1):c.1728+15A>G rs771991404 0.00001
NM_000264.5(PTCH1):c.1728+7T>C rs776735470 0.00001
NM_000264.5(PTCH1):c.182C>G (p.Ala61Gly) rs1296707371 0.00001
NM_000264.5(PTCH1):c.198C>G (p.Ser66=) rs1355794957 0.00001
NM_000264.5(PTCH1):c.201+17C>A rs750650083 0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000264.5(PTCH1):c.212C>T (p.Thr71Ile) rs529720410 0.00001
NM_000264.5(PTCH1):c.213T>C (p.Thr71=) rs1457697349 0.00001
NM_000264.5(PTCH1):c.216C>T (p.Gly72=) rs1383963652 0.00001
NM_000264.5(PTCH1):c.219G>A (p.Arg73=) rs944623019 0.00001
NM_000264.5(PTCH1):c.226C>T (p.Pro76Ser) rs997156828 0.00001
NM_000264.5(PTCH1):c.228G>A (p.Pro76=) rs140542305 0.00001
NM_000264.5(PTCH1):c.2561-20C>A rs1361292543 0.00001
NM_000264.5(PTCH1):c.2580C>T (p.Asp860=) rs1839517366 0.00001
NM_000264.5(PTCH1):c.2593A>G (p.Thr865Ala) rs1186399866 0.00001
NM_000264.5(PTCH1):c.2596G>A (p.Gly866Arg) rs765578315 0.00001
NM_000264.5(PTCH1):c.2615A>G (p.Asn872Ser) rs769029578 0.00001
NM_000264.5(PTCH1):c.2622G>A (p.Lys874=) rs747560273 0.00001
NM_000264.5(PTCH1):c.2670C>T (p.Thr890=) rs770685875 0.00001
NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg) rs1427672162 0.00001
NM_000264.5(PTCH1):c.2677C>T (p.Arg893Cys) rs753008328 0.00001
NM_000264.5(PTCH1):c.2679C>T (p.Arg893=) rs752658093 0.00001
NM_000264.5(PTCH1):c.2685G>A (p.Lys895=) rs1431878972 0.00001
NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val) rs765371196 0.00001
NM_000264.5(PTCH1):c.2699G>A (p.Ser900Asn) rs762152128 0.00001
NM_000264.5(PTCH1):c.2703+13C>T rs1431171944 0.00001
NM_000264.5(PTCH1):c.2704-13C>T rs1447832961 0.00001
NM_000264.5(PTCH1):c.2704-3T>C rs1208489068 0.00001
NM_000264.5(PTCH1):c.2704-4G>A rs864622248 0.00001
NM_000264.5(PTCH1):c.2704-5T>C rs1023491715 0.00001
NM_000264.5(PTCH1):c.2717G>A (p.Arg906His) rs764310195 0.00001
NM_000264.5(PTCH1):c.2737A>G (p.Ile913Val) rs147643145 0.00001
NM_000264.5(PTCH1):c.2739C>A (p.Ile913=) rs1305314328 0.00001
NM_000264.5(PTCH1):c.2740A>G (p.Ile914Val) rs1441750517 0.00001
NM_000264.5(PTCH1):c.2761A>G (p.Ile921Val) rs760174192 0.00001
NM_000264.5(PTCH1):c.2767C>T (p.Leu923=) rs1554691697 0.00001
NM_000264.5(PTCH1):c.279C>T (p.Tyr93=) rs142340833 0.00001
NM_000264.5(PTCH1):c.2820C>T (p.Asn940=) rs778138969 0.00001
NM_000264.5(PTCH1):c.2824C>T (p.Arg942Trp) rs756465236 0.00001
NM_000264.5(PTCH1):c.2839G>C (p.Glu947Gln) rs768039033 0.00001
NM_000264.5(PTCH1):c.283C>G (p.Gln95Glu) rs1587693508 0.00001
NM_000264.5(PTCH1):c.2851G>A (p.Asp951Asn) rs1588544328 0.00001
NM_000264.5(PTCH1):c.2852A>G (p.Asp951Gly) rs752126122 0.00001
NM_000264.5(PTCH1):c.285A>G (p.Gln95=) rs140051386 0.00001
NM_000264.5(PTCH1):c.2860G>A (p.Asp954Asn) rs772662871 0.00001
NM_000264.5(PTCH1):c.2887+17C>T rs771970960 0.00001
NM_000264.5(PTCH1):c.2887+18G>A rs749377356 0.00001
NM_000264.5(PTCH1):c.2887+9C>T rs746863062 0.00001
NM_000264.5(PTCH1):c.2888-6G>A rs775208484 0.00001
NM_000264.5(PTCH1):c.2891C>T (p.Pro964Leu) rs377120922 0.00001
NM_000264.5(PTCH1):c.2910G>A (p.Glu970=) rs147044276 0.00001
NM_000264.5(PTCH1):c.2929T>C (p.Tyr977His) rs587780700 0.00001
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser) rs758907408 0.00001
NM_000264.5(PTCH1):c.293G>A (p.Cys98Tyr) rs746435405 0.00001
NM_000264.5(PTCH1):c.2945G>A (p.Arg982Gln) rs145924695 0.00001
NM_000264.5(PTCH1):c.2954C>T (p.Ser985Leu) rs760297274 0.00001
NM_000264.5(PTCH1):c.2955A>C (p.Ser985=) rs1060504532 0.00001
NM_000264.5(PTCH1):c.2958C>T (p.Asp986=) rs752508525 0.00001
NM_000264.5(PTCH1):c.295G>T (p.Gly99Cys) rs1036074195 0.00001
NM_000264.5(PTCH1):c.2962G>T (p.Val988Leu) rs1257244317 0.00001
NM_000264.5(PTCH1):c.2965G>A (p.Glu989Lys) rs1472299295 0.00001
NM_000264.5(PTCH1):c.2995A>C (p.Ser999Arg) rs1181905241 0.00001
NM_000264.5(PTCH1):c.3008G>A (p.Ser1003Asn) rs769866360 0.00001
NM_000264.5(PTCH1):c.3032A>G (p.Asn1011Ser) rs780425276 0.00001
NM_000264.5(PTCH1):c.3033C>T (p.Asn1011=) rs772344953 0.00001
NM_000264.5(PTCH1):c.3034G>A (p.Gly1012Ser) rs187813269 0.00001
NM_000264.5(PTCH1):c.3041C>T (p.Pro1014Leu) rs1404012576 0.00001
NM_000264.5(PTCH1):c.3070C>G (p.Leu1024Val) rs759405378 0.00001
NM_000264.5(PTCH1):c.3074G>A (p.Arg1025His) rs370150142 0.00001
NM_000264.5(PTCH1):c.3088C>G (p.Leu1030Val) rs1040729718 0.00001
NM_000264.5(PTCH1):c.3090G>C (p.Leu1030=) rs764111126 0.00001
NM_000264.5(PTCH1):c.3099C>T (p.Ser1033=) rs1256956712 0.00001
NM_000264.5(PTCH1):c.3111C>T (p.Ala1037=) rs1009386754 0.00001
NM_000264.5(PTCH1):c.3117A>G (p.Thr1039=) rs775579178 0.00001
NM_000264.5(PTCH1):c.311T>C (p.Val104Ala) rs746275162 0.00001
NM_000264.5(PTCH1):c.3128G>T (p.Cys1043Phe) rs1345405015 0.00001
NM_000264.5(PTCH1):c.3129C>T (p.Cys1043=) rs746220311 0.00001
NM_000264.5(PTCH1):c.3132T>C (p.Ala1044=) rs1166490973 0.00001
NM_000264.5(PTCH1):c.3149C>T (p.Pro1050Leu) rs1420175816 0.00001
NM_000264.5(PTCH1):c.3156G>A (p.Thr1052=) rs549164233 0.00001
NM_000264.5(PTCH1):c.3168+16G>C rs754733018 0.00001
NM_000264.5(PTCH1):c.3169-5T>C rs367654039 0.00001
NM_000264.5(PTCH1):c.3180G>A (p.Leu1060=) rs757268536 0.00001
NM_000264.5(PTCH1):c.3188T>C (p.Met1063Thr) rs1260702127 0.00001
NM_000264.5(PTCH1):c.3211A>T (p.Met1071Leu) rs559317040 0.00001
NM_000264.5(PTCH1):c.3219C>T (p.Leu1073=) rs771814170 0.00001
NM_000264.5(PTCH1):c.3220A>G (p.Ile1074Val) rs745626835 0.00001
NM_000264.5(PTCH1):c.322A>G (p.Ile108Val) rs1338490449 0.00001
NM_000264.5(PTCH1):c.3239C>T (p.Ala1080Val) rs781188522 0.00001
NM_000264.5(PTCH1):c.3261C>T (p.Ile1087=) rs768215021 0.00001
NM_000264.5(PTCH1):c.3262G>A (p.Ala1088Thr) rs150217389 0.00001
NM_000264.5(PTCH1):c.3264T>A (p.Ala1088=) rs1361137530 0.00001
NM_000264.5(PTCH1):c.3292G>A (p.Val1098Ile) rs748726158 0.00001
NM_000264.5(PTCH1):c.3293T>C (p.Val1098Ala) rs1291842090 0.00001
NM_000264.5(PTCH1):c.3295C>G (p.His1099Asp) rs1426410745 0.00001
NM_000264.5(PTCH1):c.3297C>T (p.His1099=) rs1426862267 0.00001
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala) rs1060502284 0.00001
NM_000264.5(PTCH1):c.3313C>T (p.Leu1105=) rs773043594 0.00001
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met) rs769691754 0.00001
NM_000264.5(PTCH1):c.3322A>G (p.Ile1108Val) rs866037881 0.00001
NM_000264.5(PTCH1):c.3325G>A (p.Gly1109Ser) rs1344231723 0.00001
NM_000264.5(PTCH1):c.3327C>T (p.Gly1109=) rs779950790 0.00001
NM_000264.5(PTCH1):c.3331A>G (p.Lys1111Glu) rs1838665681 0.00001
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys) rs758520331 0.00001
NM_000264.5(PTCH1):c.3347T>A (p.Val1116Glu) rs863224653 0.00001
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=) rs756638660 0.00001
NM_000264.5(PTCH1):c.337G>T (p.Ala113Ser) rs1843653911 0.00001
NM_000264.5(PTCH1):c.3384T>C (p.Asp1128=) rs759078294 0.00001
NM_000264.5(PTCH1):c.3388G>A (p.Ala1130Thr) rs766037357 0.00001
NM_000264.5(PTCH1):c.342G>A (p.Val114=) rs766365142 0.00001
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val) rs369265532 0.00001
NM_000264.5(PTCH1):c.3443T>C (p.Ile1148Thr) rs1838650766 0.00001
NM_000264.5(PTCH1):c.3449+10C>T rs371546179 0.00001
NM_000264.5(PTCH1):c.3449+7A>T rs374907800 0.00001
NM_000264.5(PTCH1):c.3450-20G>A rs781454030 0.00001
NM_000264.5(PTCH1):c.3452A>G (p.Tyr1151Cys) rs1838317135 0.00001
NM_000264.5(PTCH1):c.3459T>C (p.Phe1153=) rs752031732 0.00001
NM_000264.5(PTCH1):c.3472A>C (p.Ile1158Leu) rs368636457 0.00001
NM_000264.5(PTCH1):c.3477C>T (p.Leu1159=) rs1838313389 0.00001
NM_000264.5(PTCH1):c.3479C>G (p.Thr1160Ser) rs147633236 0.00001
NM_000264.5(PTCH1):c.3490G>A (p.Val1164Ile) rs371346118 0.00001
NM_000264.5(PTCH1):c.3529T>G (p.Phe1177Val) rs772200521 0.00001
NM_000264.5(PTCH1):c.3564C>T (p.Asn1188=) rs864622621 0.00001
NM_000264.5(PTCH1):c.3565G>A (p.Gly1189Ser) rs767535853 0.00001
NM_000264.5(PTCH1):c.3573C>T (p.Asn1191=) rs773389781 0.00001
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys) rs571420165 0.00001
NM_000264.5(PTCH1):c.357G>C (p.Ala119=) rs377575915 0.00001
NM_000264.5(PTCH1):c.3592C>T (p.Pro1198Ser) rs1280830531 0.00001
NM_000264.5(PTCH1):c.3605C>G (p.Pro1202Arg) rs374097441 0.00001
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg) rs1564008885 0.00001
NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr) rs945517672 0.00001
NM_000264.5(PTCH1):c.3636C>T (p.Gly1212=) rs751560737 0.00001
NM_000264.5(PTCH1):c.3645C>T (p.His1215=) rs760927638 0.00001
NM_000264.5(PTCH1):c.3655G>C (p.Asp1219His) rs774833489 0.00001
NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn) rs747181820 0.00001
NM_000264.5(PTCH1):c.3668C>T (p.Ser1223Leu) rs769287098 0.00001
NM_000264.5(PTCH1):c.3705C>T (p.Ser1235=) rs1051927200 0.00001
NM_000264.5(PTCH1):c.3706G>A (p.Glu1236Lys) rs779844193 0.00001
NM_000264.5(PTCH1):c.3715C>T (p.Arg1239Trp) rs758411912 0.00001
NM_000264.5(PTCH1):c.3723C>T (p.Tyr1241=) rs750745538 0.00001
NM_000264.5(PTCH1):c.3737G>A (p.Gly1246Asp) rs374011978 0.00001
NM_000264.5(PTCH1):c.3738C>T (p.Gly1246=) rs771308724 0.00001
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu) rs375857496 0.00001
NM_000264.5(PTCH1):c.3748C>T (p.Pro1250Ser) rs1060502265 0.00001
NM_000264.5(PTCH1):c.3756C>T (p.His1252=) rs768484663 0.00001
NM_000264.5(PTCH1):c.3759A>G (p.Gln1253=) rs1220180319 0.00001
NM_000264.5(PTCH1):c.3765C>T (p.Ile1255=) rs758229027 0.00001
NM_000264.5(PTCH1):c.3787G>A (p.Val1263Ile) rs752831580 0.00001
NM_000264.5(PTCH1):c.3804+18A>G rs1838202750 0.00001
NM_000264.5(PTCH1):c.3804+6T>G rs1298248967 0.00001
NM_000264.5(PTCH1):c.3804T>C (p.Thr1268=) rs951501624 0.00001
NM_000264.5(PTCH1):c.3805-19C>T rs375522977 0.00001
NM_000264.5(PTCH1):c.3805-20C>T rs1264140680 0.00001
NM_000264.5(PTCH1):c.3805-8C>G rs1056411006 0.00001
NM_000264.5(PTCH1):c.3827A>G (p.His1276Arg) rs1445693994 0.00001
NM_000264.5(PTCH1):c.3836C>T (p.Pro1279Leu) rs747128318 0.00001
NM_000264.5(PTCH1):c.3837C>T (p.Pro1279=) rs1263941339 0.00001
NM_000264.5(PTCH1):c.3841A>G (p.Asn1281Asp) rs1838051752 0.00001
NM_000264.5(PTCH1):c.3843C>T (p.Asn1281=) rs765729268 0.00001
NM_000264.5(PTCH1):c.384G>C (p.Leu128=) rs990879355 0.00001
NM_000264.5(PTCH1):c.3852G>A (p.Gln1284=) rs530952447 0.00001
NM_000264.5(PTCH1):c.3875C>T (p.Ser1292Phe) rs760216958 0.00001
NM_000264.5(PTCH1):c.3876C>T (p.Ser1292=) rs752197356 0.00001
NM_000264.5(PTCH1):c.3879G>A (p.Leu1293=) rs1838044861 0.00001
NM_000264.5(PTCH1):c.3885C>T (p.Pro1295=) rs267602323 0.00001
NM_000264.5(PTCH1):c.3886G>A (p.Gly1296Arg) rs372828014 0.00001
NM_000264.5(PTCH1):c.3899A>T (p.Gln1300Leu) rs769680080 0.00001
NM_000264.5(PTCH1):c.390G>A (p.Val130=) rs1203300469 0.00001
NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu) rs786204201 0.00001
NM_000264.5(PTCH1):c.3916C>A (p.Pro1306Thr) rs1169961504 0.00001
NM_000264.5(PTCH1):c.3920C>G (p.Pro1307Arg) rs181585555 0.00001
NM_000264.5(PTCH1):c.3924A>G (p.Arg1308=) rs762725821 0.00001
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser) rs1057524645 0.00001
NM_000264.5(PTCH1):c.394+10C>T rs755119764 0.00001
NM_000264.5(PTCH1):c.394+13G>T rs1444907229 0.00001
NM_000264.5(PTCH1):c.394+15C>G rs771281691 0.00001
NM_000264.5(PTCH1):c.394+18G>A rs749589611 0.00001
NM_000264.5(PTCH1):c.394+6_394+17del rs774338309 0.00001
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser) rs574856671 0.00001
NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu) rs1400282737 0.00001
NM_000264.5(PTCH1):c.3943C>T (p.Pro1315Ser) rs746022197 0.00001
NM_000264.5(PTCH1):c.395-12C>T rs374019375 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000264.5(PTCH1):c.395-8T>A rs755013836 0.00001
NM_000264.5(PTCH1):c.395-9A>G rs781395697 0.00001
NM_000264.5(PTCH1):c.3951A>G (p.Arg1317=) rs1211632031 0.00001
NM_000264.5(PTCH1):c.3975T>A (p.Ile1325=) rs45504199 0.00001
NM_000264.5(PTCH1):c.3984A>C (p.Glu1328Asp) rs1394160194 0.00001
NM_000264.5(PTCH1):c.4014C>T (p.Arg1338=) rs1257662475 0.00001
NM_000264.5(PTCH1):c.4041C>T (p.His1347=) rs774524114 0.00001
NM_000264.5(PTCH1):c.4042A>G (p.Asn1348Asp) rs766576144 0.00001
NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser) rs371943557 0.00001
NM_000264.5(PTCH1):c.4046C>T (p.Pro1349Leu) rs773298544 0.00001
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln) rs978722722 0.00001
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=) rs748440992 0.00001
NM_000264.5(PTCH1):c.4055C>G (p.Pro1352Arg) rs1022984391 0.00001
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val) rs777096311 0.00001
NM_000264.5(PTCH1):c.4062C>T (p.Ser1354=) rs750183334 0.00001
NM_000264.5(PTCH1):c.4063A>G (p.Thr1355Ala) rs864622456 0.00001
NM_000264.5(PTCH1):c.4094G>A (p.Cys1365Tyr) rs1397510746 0.00001
NM_000264.5(PTCH1):c.4114A>G (p.Thr1372Ala) rs1837997051 0.00001
NM_000264.5(PTCH1):c.4115C>T (p.Thr1372Met) rs765348942 0.00001
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys) rs139535966 0.00001
NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr) rs111481152 0.00001
NM_000264.5(PTCH1):c.413G>A (p.Arg138His) rs763774051 0.00001
NM_000264.5(PTCH1):c.4146C>T (p.His1382=) rs1207158056 0.00001
NM_000264.5(PTCH1):c.4149G>A (p.Pro1383=) rs56230654 0.00001
NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=) rs761887390 0.00001
NM_000264.5(PTCH1):c.4160C>T (p.Pro1387Leu) rs552921967 0.00001
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg) rs587778631 0.00001
NM_000264.5(PTCH1):c.4167T>A (p.Pro1389=) rs531218594 0.00001
NM_000264.5(PTCH1):c.4170G>A (p.Gly1390=) rs201118928 0.00001
NM_000264.5(PTCH1):c.4178C>G (p.Pro1393Arg) rs1368334005 0.00001
NM_000264.5(PTCH1):c.4180C>T (p.Arg1394Ter) rs1297685477 0.00001
NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg) rs375626922 0.00001
NM_000264.5(PTCH1):c.4187G>A (p.Gly1396Glu) rs747923595 0.00001
NM_000264.5(PTCH1):c.4195C>T (p.Pro1399Ser) rs1275384199 0.00001
NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp) rs786204094 0.00001
NM_000264.5(PTCH1):c.4237C>T (p.His1413Tyr) rs772886108 0.00001
NM_000264.5(PTCH1):c.4239C>T (p.His1413=) rs375040845 0.00001
NM_000264.5(PTCH1):c.4249C>A (p.His1417Asn) rs776235476 0.00001
NM_000264.5(PTCH1):c.4267A>C (p.Arg1423=) rs1588509691 0.00001
NM_000264.5(PTCH1):c.4288A>G (p.Ile1430Val) rs1043260017 0.00001
NM_000264.5(PTCH1):c.4289T>C (p.Ile1430Thr) rs556722778 0.00001
NM_000264.5(PTCH1):c.4291G>A (p.Glu1431Lys) rs766876016 0.00001
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met) rs587778632 0.00001
NM_000264.5(PTCH1):c.4308A>G (p.Glu1436=) rs1352453918 0.00001
NM_000264.5(PTCH1):c.430C>T (p.Arg144Cys) rs587780705 0.00001
NM_000264.5(PTCH1):c.4320G>T (p.Arg1440Ser) rs1837952286 0.00001
NM_000264.5(PTCH1):c.4334G>A (p.Ser1445Asn) rs770268061 0.00001
NM_000264.5(PTCH1):c.447A>G (p.Glu149=) rs948008040 0.00001
NM_000264.5(PTCH1):c.451G>T (p.Ala151Ser) rs751024812 0.00001
NM_000264.5(PTCH1):c.454A>G (p.Met152Val) rs766905791 0.00001
NM_000264.5(PTCH1):c.463C>T (p.Pro155Ser) rs369105527 0.00001
NM_000264.5(PTCH1):c.485C>G (p.Pro162Arg) rs770046324 0.00001
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp) rs587780707 0.00001
NM_000264.5(PTCH1):c.514A>G (p.Thr172Ala) rs1244945859 0.00001
NM_000264.5(PTCH1):c.522G>A (p.Ala174=) rs891032185 0.00001
NM_000264.5(PTCH1):c.526C>T (p.Leu176=) rs2066834 0.00001
NM_000264.5(PTCH1):c.528A>G (p.Leu176=) rs771039964 0.00001
NM_000264.5(PTCH1):c.534C>T (p.His178=) rs749224677 0.00001
NM_000264.5(PTCH1):c.542C>T (p.Ser181Leu) rs868350953 0.00001
NM_000264.5(PTCH1):c.545C>T (p.Ala182Val) rs567721919 0.00001
NM_000264.5(PTCH1):c.552G>T (p.Gln184His) rs369893129 0.00001
NM_000264.5(PTCH1):c.574A>G (p.Met192Val) rs763513784 0.00001
NM_000264.5(PTCH1):c.584+12C>T rs375797579 0.00001
NM_000264.5(PTCH1):c.584+15G>A rs368571192 0.00001
NM_000264.5(PTCH1):c.584+18C>T rs775769741 0.00001
NM_000264.5(PTCH1):c.584+6G>A rs1282207631 0.00001
NM_000264.5(PTCH1):c.584+9C>T rs750895460 0.00001
NM_000264.5(PTCH1):c.594A>G (p.Lys198=) rs1341335793 0.00001
NM_000264.5(PTCH1):c.608G>A (p.Cys203Tyr) rs1261920867 0.00001
NM_000264.5(PTCH1):c.637A>G (p.Thr213Ala) rs1588614533 0.00001
NM_000264.5(PTCH1):c.646A>G (p.Met216Val) rs587780709 0.00001
NM_000264.5(PTCH1):c.649G>A (p.Asp217Asn) rs780378700 0.00001
NM_000264.5(PTCH1):c.652C>G (p.Gln218Glu) rs1841591077 0.00001
NM_000264.5(PTCH1):c.655-17C>G rs1028803378 0.00001
NM_000264.5(PTCH1):c.655A>G (p.Ile219Val) rs1841580631 0.00001
NM_000264.5(PTCH1):c.671A>T (p.Tyr224Phe) rs747205016 0.00001
NM_000264.5(PTCH1):c.717G>A (p.Ala239=) rs775723196 0.00001
NM_000264.5(PTCH1):c.728C>T (p.Ser243Phe) rs141265422 0.00001
NM_000264.5(PTCH1):c.746+7G>A rs369770500 0.00001
NM_000264.5(PTCH1):c.747-20T>C rs778453806 0.00001
NM_000264.5(PTCH1):c.747-8T>C rs780639292 0.00001
NM_000264.5(PTCH1):c.747-9C>A rs747672519 0.00001
NM_000264.5(PTCH1):c.752A>G (p.Lys251Arg) rs754650075 0.00001
NM_000264.5(PTCH1):c.764G>A (p.Arg255Gln) rs779870576 0.00001
NM_000264.5(PTCH1):c.777C>T (p.Phe259=) rs750313305 0.00001
NM_000264.5(PTCH1):c.778G>A (p.Asp260Asn) rs765174527 0.00001
NM_000264.5(PTCH1):c.819T>C (p.Tyr273=) rs1060504534 0.00001
NM_000264.5(PTCH1):c.828C>T (p.Asp276=) rs763432270 0.00001
NM_000264.5(PTCH1):c.832T>G (p.Trp278Gly) rs1219459429 0.00001
NM_000264.5(PTCH1):c.840A>G (p.Glu280=) rs770426495 0.00001
NM_000264.5(PTCH1):c.847A>T (p.Asn283Tyr) rs1588610162 0.00001
NM_000264.5(PTCH1):c.878A>G (p.Asp293Gly) rs768095469 0.00001
NM_000264.5(PTCH1):c.881G>A (p.Arg294His) rs878853859 0.00001
NM_000264.5(PTCH1):c.893A>G (p.Asn298Ser) rs1456514392 0.00001
NM_000264.5(PTCH1):c.895C>T (p.Pro299Ser) rs745669231 0.00001
NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg) rs1487227339 0.00001
NM_000264.5(PTCH1):c.907G>C (p.Asp303His) rs1172719429 0.00001
NM_000264.5(PTCH1):c.915C>T (p.Pro305=) rs137944857 0.00001
NM_000264.5(PTCH1):c.916G>A (p.Ala306Thr) rs547776340 0.00001
NM_000264.5(PTCH1):c.918C>T (p.Ala306=) rs1005939298 0.00001
NM_000264.5(PTCH1):c.920C>T (p.Thr307Ile) rs1255733467 0.00001
NM_000264.5(PTCH1):c.926C>T (p.Pro309Leu) rs762382517 0.00001
NM_000264.5(PTCH1):c.944A>C (p.Lys315Thr) rs746517321 0.00001
NM_000264.5(PTCH1):c.945+10A>C rs771708898 0.00001
NM_000264.5(PTCH1):c.946-18G>T rs1447732065 0.00001
NM_000264.5(PTCH1):c.949C>G (p.Leu317Val) rs1380199153 0.00001
NM_000264.5(PTCH1):c.956T>C (p.Met319Thr) rs867609005 0.00001
NM_000264.5(PTCH1):c.969G>A (p.Leu323=) rs771618979 0.00001
GRCh37/hg19 9q22.32(chr9:98207091-98210940)x1
NC_000009.11:g.(?_98204264)_(98271831_?)del
NC_000009.11:g.(?_98209194)_(98220585_?)del
NC_000009.11:g.(?_98226337)_(98248166_?)dup
NC_000009.11:g.(?_98229388)_(98231445_?)del
NC_000009.11:g.(?_98229392)_(98232219_?)del
NC_000009.11:g.(?_98231023)_(98232223_?)del
NC_000009.11:g.(?_98237055)_(98242741_?)del
NC_000009.11:g.(?_98238306)_(98238451_?)del
NC_000009.11:g.(?_98238306)_(98279100_?)del
NC_000009.11:g.(?_98239031)_(98279100_?)del
NC_000009.11:g.(?_98241272)_(98248166_?)dup
NC_000009.11:g.(?_98247957)_(98248166_?)del
NC_000009.11:g.(?_98268679)_(98279100_?)dup
NC_000009.12:g.(?_95446912)_(95508361_?)dup
NC_000009.12:g.(?_95446912)_(95516818_?)del
NC_000009.12:g.(?_95449059)_(95449950_?)del
NC_000009.12:g.(?_95456266)_(95459793_?)del
NC_000009.12:g.95449841dup rs2136607401
NC_000009.12:g.95482041_95482042insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATATTCTATTATC rs2118466034
NM_000264.3(PTCH1):c.1779_2195del
NM_000264.3(PTCH1):c.3168+763_4244del
NM_000264.5(PTCH1):c.*105G>A rs142840663
NM_000264.5(PTCH1):c.*1075A>C rs1020973772
NM_000264.5(PTCH1):c.*1256C>T rs187832324
NM_000264.5(PTCH1):c.*1353T>C rs1837774312
NM_000264.5(PTCH1):c.*1413C>G rs1057515714
NM_000264.5(PTCH1):c.*1638A>G rs1039220329
NM_000264.5(PTCH1):c.*1757C>T rs1837735115
NM_000264.5(PTCH1):c.*1866TG[10] rs59205702
NM_000264.5(PTCH1):c.*1866TG[12] rs59205702
NM_000264.5(PTCH1):c.*186T>G rs977327674
NM_000264.5(PTCH1):c.*1893GT[4] rs531572088
NM_000264.5(PTCH1):c.*2146A>G rs538345753
NM_000264.5(PTCH1):c.*2263T>A rs1837680803
NM_000264.5(PTCH1):c.*2288dup rs548096592
NM_000264.5(PTCH1):c.*2414C>G rs776036229
NM_000264.5(PTCH1):c.*248C>T rs576591779
NM_000264.5(PTCH1):c.*2988TTGT[1] rs139748418
NM_000264.5(PTCH1):c.*3213T>C rs992312438
NM_000264.5(PTCH1):c.*592C>T rs890920802
NM_000264.5(PTCH1):c.*62C>T rs1837877053
NM_000264.5(PTCH1):c.*664dup rs111365480
NM_000264.5(PTCH1):c.*748_*749insACTT rs147342582
NM_000264.5(PTCH1):c.*748_*749insATTT rs1554687587
NM_000264.5(PTCH1):c.*903G>A rs188320042
NM_000264.5(PTCH1):c.*943T>C rs538912814
NM_000264.5(PTCH1):c.1001A>T (p.Tyr334Phe)
NM_000264.5(PTCH1):c.1002T>G (p.Tyr334Ter) rs145867500
NM_000264.5(PTCH1):c.1003A>C (p.Met335Leu)
NM_000264.5(PTCH1):c.1004T>C (p.Met335Thr) rs749049752
NM_000264.5(PTCH1):c.1005G>T (p.Met335Ile)
NM_000264.5(PTCH1):c.1006del (p.His336fs) rs2118392260
NM_000264.5(PTCH1):c.1007_1010dup (p.Trp337Ter)
NM_000264.5(PTCH1):c.1008C>G (p.His336Gln) rs1841405475
NM_000264.5(PTCH1):c.1008C>T (p.His336=) rs1841405475
NM_000264.5(PTCH1):c.1009T>A (p.Trp337Arg) rs2118391966
NM_000264.5(PTCH1):c.1010G>A (p.Trp337Ter)
NM_000264.5(PTCH1):c.1012C>T (p.Gln338Ter) rs1841404957
NM_000264.5(PTCH1):c.1013A>G (p.Gln338Arg)
NM_000264.5(PTCH1):c.1015G>A (p.Glu339Lys)
NM_000264.5(PTCH1):c.1018G>C (p.Glu340Gln)
NM_000264.5(PTCH1):c.1021T>A (p.Leu341Met) rs780256480
NM_000264.5(PTCH1):c.1023G>A (p.Leu341=)
NM_000264.5(PTCH1):c.1026T>A (p.Ile342=)
NM_000264.5(PTCH1):c.1026T>C (p.Ile342=)
NM_000264.5(PTCH1):c.1027G>A (p.Val343Met) rs1564054554
NM_000264.5(PTCH1):c.1027G>T (p.Val343Leu) rs1564054554
NM_000264.5(PTCH1):c.1030G>T (p.Gly344Cys) rs2118390055
NM_000264.5(PTCH1):c.1031G>A (p.Gly344Asp) rs758585782
NM_000264.5(PTCH1):c.1033G>A (p.Gly345Ser)
NM_000264.5(PTCH1):c.1036A>G (p.Thr346Ala) rs1841400368
NM_000264.5(PTCH1):c.1037C>T (p.Thr346Ile) rs1841400047
NM_000264.5(PTCH1):c.1039G>T (p.Val347Phe) rs1060502279
NM_000264.5(PTCH1):c.1041C>G (p.Val347=) rs1588608374
NM_000264.5(PTCH1):c.1041C>T (p.Val347=) rs1588608374
NM_000264.5(PTCH1):c.1045_1048dup (p.Ser350fs) rs2118388624
NM_000264.5(PTCH1):c.1046A>G (p.Asn349Ser)
NM_000264.5(PTCH1):c.1047C>T (p.Asn349=) rs2118388662
NM_000264.5(PTCH1):c.1047del (p.Asn349fs)
NM_000264.5(PTCH1):c.1048A>T (p.Ser350Cys) rs2118388571
NM_000264.5(PTCH1):c.1051del (p.Thr351fs) rs2118388351
NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser)
NM_000264.5(PTCH1):c.1053T>C (p.Thr351=)
NM_000264.5(PTCH1):c.1055del (p.Gly352fs) rs2118388096
NM_000264.5(PTCH1):c.1056A>G (p.Gly352=) rs1841396845
NM_000264.5(PTCH1):c.1059A>G (p.Lys353=) rs1588608299
NM_000264.5(PTCH1):c.1060C>T (p.Leu354Phe) rs1588608286
NM_000264.5(PTCH1):c.1062C>G (p.Leu354=) rs1554699558
NM_000264.5(PTCH1):c.1062C>T (p.Leu354=) rs1554699558
NM_000264.5(PTCH1):c.1065C>G (p.Val355=) rs2118387266
NM_000264.5(PTCH1):c.1067+16A>C
NM_000264.5(PTCH1):c.1067+1G>T rs2118387075
NM_000264.5(PTCH1):c.1067+20C>T rs1015971517
NM_000264.5(PTCH1):c.1067+2T>A
NM_000264.5(PTCH1):c.1067+5G>T rs372657547
NM_000264.5(PTCH1):c.1067+6C>G rs1256541464
NM_000264.5(PTCH1):c.1067+6C>T rs1256541464
NM_000264.5(PTCH1):c.1067+7C>G rs2118386733
NM_000264.5(PTCH1):c.1068-10TG[3] rs748406293
NM_000264.5(PTCH1):c.1068-18C>A
NM_000264.5(PTCH1):c.1068-2A>C
NM_000264.5(PTCH1):c.1068-2A>G rs1060502271
NM_000264.5(PTCH1):c.1068-2A>T rs1060502271
NM_000264.5(PTCH1):c.1068-3C>T rs1841335848
NM_000264.5(PTCH1):c.1068-4G>A
NM_000264.5(PTCH1):c.1070C>T (p.Ala357Val) rs1841334350
NM_000264.5(PTCH1):c.1076C>G (p.Ala359Gly)
NM_000264.5(PTCH1):c.1076C>T (p.Ala359Val) rs1302357924
NM_000264.5(PTCH1):c.1078C>T (p.Leu360=) rs2118368238
NM_000264.5(PTCH1):c.1079T>C (p.Leu360Pro) rs2118368178
NM_000264.5(PTCH1):c.1081C>T (p.Gln361Ter) rs199476090
NM_000264.5(PTCH1):c.1086C>G (p.Thr362=) rs777969745
NM_000264.5(PTCH1):c.1087A>G (p.Met363Val) rs1342698215
NM_000264.5(PTCH1):c.1088T>C (p.Met363Thr)
NM_000264.5(PTCH1):c.1089G>A (p.Met363Ile) rs1841330687
NM_000264.5(PTCH1):c.1092C>G (p.Phe364Leu) rs2118367698
NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter) rs267606984
NM_000264.5(PTCH1):c.1097T>G (p.Leu366Ter) rs1841329871
NM_000264.5(PTCH1):c.1097del (p.Gln365_Leu366insTer)
NM_000264.5(PTCH1):c.1098A>G (p.Leu366=) rs2118367508
NM_000264.5(PTCH1):c.1104del (p.Lys370fs)
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.1120G>T (p.Glu374Ter) rs144323077
NM_000264.5(PTCH1):c.1122G>T (p.Glu374Asp)
NM_000264.5(PTCH1):c.1124A>T (p.His375Leu)
NM_000264.5(PTCH1):c.1126T>C (p.Phe376Leu)
NM_000264.5(PTCH1):c.1127del (p.Phe376fs)
NM_000264.5(PTCH1):c.1128del (p.Phe376fs) rs1588605746
NM_000264.5(PTCH1):c.1129A>G (p.Lys377Glu) rs1588605721
NM_000264.5(PTCH1):c.1133G>A (p.Gly378Glu) rs1463870316
NM_000264.5(PTCH1):c.1135T>C (p.Tyr379His) rs1554699212
NM_000264.5(PTCH1):c.1135dup (p.Tyr379fs) rs1554699216
NM_000264.5(PTCH1):c.1136A>G (p.Tyr379Cys) rs1841324703
NM_000264.5(PTCH1):c.1138G>T (p.Glu380Ter) rs772903899
NM_000264.5(PTCH1):c.1144G>A (p.Val382Ile) rs1841323482
NM_000264.5(PTCH1):c.1148C>A (p.Ser383Ter)
NM_000264.5(PTCH1):c.1149A>C (p.Ser383=)
NM_000264.5(PTCH1):c.1150C>G (p.His384Asp) rs2118365949
NM_000264.5(PTCH1):c.1150C>T (p.His384Tyr)
NM_000264.5(PTCH1):c.1151A>C (p.His384Pro) rs1220687550
NM_000264.5(PTCH1):c.1151del (p.His384fs) rs1841322999
NM_000264.5(PTCH1):c.1152C>G (p.His384Gln) rs200246772
NM_000264.5(PTCH1):c.1152C>T (p.His384=) rs200246772
NM_000264.5(PTCH1):c.1154T>C (p.Ile385Thr) rs2118365611
NM_000264.5(PTCH1):c.1155del (p.Asn386fs) rs1060502297
NM_000264.5(PTCH1):c.1157A>G (p.Asn386Ser) rs1564053157
NM_000264.5(PTCH1):c.1160G>A (p.Trp387Ter) rs2118365442
NM_000264.5(PTCH1):c.1161G>A (p.Trp387Ter) rs1588605485
NM_000264.5(PTCH1):c.1161G>C (p.Trp387Cys)
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys) rs1841320331
NM_000264.5(PTCH1):c.1167G>A (p.Glu389=) rs2118365266
NM_000264.5(PTCH1):c.1168G>C (p.Asp390His) rs1588605451
NM_000264.5(PTCH1):c.1172A>G (p.Lys391Arg) rs1554699163
NM_000264.5(PTCH1):c.1173A>G (p.Lys391=) rs2118365117
NM_000264.5(PTCH1):c.1178C>A (p.Ala393Glu) rs202020837
NM_000264.5(PTCH1):c.1181C>T (p.Ala394Val) rs2118364801
NM_000264.5(PTCH1):c.1183_1187dup (p.Glu397fs) rs1841317825
NM_000264.5(PTCH1):c.1186C>G (p.Leu396Val) rs371424684
NM_000264.5(PTCH1):c.1190_1197del (p.Glu397fs) rs1564053040
NM_000264.5(PTCH1):c.1191G>A (p.Glu397=)
NM_000264.5(PTCH1):c.1194C>A (p.Ala398=)
NM_000264.5(PTCH1):c.1197G>A (p.Trp399Ter)
NM_000264.5(PTCH1):c.1197del (p.Trp399fs) rs2118364366
NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter) rs1588605348
NM_000264.5(PTCH1):c.1208A>G (p.Tyr403Cys) rs1588605278
NM_000264.5(PTCH1):c.1208_1209del (p.Tyr403fs) rs1060502286
NM_000264.5(PTCH1):c.1209T>C (p.Tyr403=)
NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter) rs1432645175
NM_000264.5(PTCH1):c.1213G>A (p.Glu405Lys)
NM_000264.5(PTCH1):c.1213G>T (p.Glu405Ter)
NM_000264.5(PTCH1):c.1215+10C>A rs1444052168
NM_000264.5(PTCH1):c.1215+15G>A rs781602634
NM_000264.5(PTCH1):c.1215+15G>T rs781602634
NM_000264.5(PTCH1):c.1215+20G>A
NM_000264.5(PTCH1):c.1215+4A>T
NM_000264.5(PTCH1):c.1215+5A>T
NM_000264.5(PTCH1):c.1215+6C>A
NM_000264.5(PTCH1):c.1215+6C>G rs1371005350
NM_000264.5(PTCH1):c.1215+8C>T rs1588605206
NM_000264.5(PTCH1):c.1215+9A>G
NM_000264.5(PTCH1):c.1216-10G>T rs587780691
NM_000264.5(PTCH1):c.1216-11T>C rs2118340723
NM_000264.5(PTCH1):c.1216-13G>A
NM_000264.5(PTCH1):c.1216-16T>C
NM_000264.5(PTCH1):c.1216-18A>G
NM_000264.5(PTCH1):c.1216-18A>T
NM_000264.5(PTCH1):c.1216-19C>T
NM_000264.5(PTCH1):c.1216-1G>A rs1564051834
NM_000264.5(PTCH1):c.1216-20G>A rs747471269
NM_000264.5(PTCH1):c.1216-20G>T
NM_000264.5(PTCH1):c.1216-8G>A
NM_000264.5(PTCH1):c.1218G>C (p.Val406=)
NM_000264.5(PTCH1):c.1219G>T (p.Val407Phe)
NM_000264.5(PTCH1):c.1221T>A (p.Val407=) rs2118339817
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del) rs1489690325
NM_000264.5(PTCH1):c.1224T>C (p.His408=)
NM_000264.5(PTCH1):c.1224del (p.Gln409fs)
NM_000264.5(PTCH1):c.1225C>T (p.Gln409Ter) rs1588603014
NM_000264.5(PTCH1):c.1226A>G (p.Gln409Arg) rs1841233191
NM_000264.5(PTCH1):c.1226dup (p.Ser410fs)
NM_000264.5(PTCH1):c.1228A>C (p.Ser410Arg)
NM_000264.5(PTCH1):c.1231G>A (p.Val411Ile)
NM_000264.5(PTCH1):c.1231_1232del (p.Val411fs) rs2118338822
NM_000264.5(PTCH1):c.1231_1232dup (p.Ala412fs)
NM_000264.5(PTCH1):c.1233C>G (p.Val411=) rs752518133
NM_000264.5(PTCH1):c.1234G>A (p.Ala412Thr) rs370354759
NM_000264.5(PTCH1):c.1237C>T (p.Gln413Ter) rs2118338419
NM_000264.5(PTCH1):c.1241A>G (p.Asn414Ser) rs2118338120
NM_000264.5(PTCH1):c.1244C>G (p.Ser415Cys) rs1588602943
NM_000264.5(PTCH1):c.1247C>T (p.Thr416Ile) rs201174718
NM_000264.5(PTCH1):c.1248T>C (p.Thr416=) rs863224345
NM_000264.5(PTCH1):c.1250A>G (p.Gln417Arg) rs1060502270
NM_000264.5(PTCH1):c.1251A>G (p.Gln417=) rs2118337388
NM_000264.5(PTCH1):c.1253A>T (p.Lys418Met)
NM_000264.5(PTCH1):c.1253del (p.Lys418fs) rs2118337307
NM_000264.5(PTCH1):c.1254G>T (p.Lys418Asn) rs1227338966
NM_000264.5(PTCH1):c.1255G>A (p.Val419Met)
NM_000264.5(PTCH1):c.1255G>T (p.Val419Leu) rs202136156
NM_000264.5(PTCH1):c.1257G>A (p.Val419=) rs1060504535
NM_000264.5(PTCH1):c.1258C>T (p.Leu420Phe) rs1841229239
NM_000264.5(PTCH1):c.1261dup (p.Ser421fs) rs2118336503
NM_000264.5(PTCH1):c.1262C>T (p.Ser421Phe) rs1285775586
NM_000264.5(PTCH1):c.1266C>T (p.Phe422=)
NM_000264.5(PTCH1):c.1267A>G (p.Thr423Ala)
NM_000264.5(PTCH1):c.1268C>G (p.Thr423Ser) rs1841228090
NM_000264.5(PTCH1):c.1268C>T (p.Thr423Ile) rs1841228090
NM_000264.5(PTCH1):c.1269C>T (p.Thr423=) rs998906518
NM_000264.5(PTCH1):c.1271C>G (p.Thr424Ser)
NM_000264.5(PTCH1):c.1273A>G (p.Thr425Ala)
NM_000264.5(PTCH1):c.1275G>C (p.Thr425=) rs150837425
NM_000264.5(PTCH1):c.1276A>G (p.Thr426Ala)
NM_000264.5(PTCH1):c.1276A>T (p.Thr426Ser)
NM_000264.5(PTCH1):c.1279C>T (p.Leu427=)
NM_000264.5(PTCH1):c.1283A>G (p.Asp428Gly) rs1554698835
NM_000264.5(PTCH1):c.1283A>T (p.Asp428Val) rs1554698835
NM_000264.5(PTCH1):c.1285G>A (p.Asp429Asn) rs377546733
NM_000264.5(PTCH1):c.1285G>T (p.Asp429Tyr) rs377546733
NM_000264.5(PTCH1):c.1286A>G (p.Asp429Gly) rs1588602719
NM_000264.5(PTCH1):c.1287C>T (p.Asp429=) rs2118333811
NM_000264.5(PTCH1):c.1290C>T (p.Ile430=)
NM_000264.5(PTCH1):c.1291C>G (p.Leu431Val) rs1416185684
NM_000264.5(PTCH1):c.1291C>T (p.Leu431=) rs1416185684
NM_000264.5(PTCH1):c.1292T>C (p.Leu431Pro) rs1564051512
NM_000264.5(PTCH1):c.1295A>C (p.Lys432Thr) rs1841223979
NM_000264.5(PTCH1):c.1295A>G (p.Lys432Arg) rs1841223979
NM_000264.5(PTCH1):c.1296A>C (p.Lys432Asn)
NM_000264.5(PTCH1):c.1296A>T (p.Lys432Asn) rs1564051490
NM_000264.5(PTCH1):c.1298C>T (p.Ser433Phe)
NM_000264.5(PTCH1):c.1299C>A (p.Ser433=) rs1366832439
NM_000264.5(PTCH1):c.1299C>T (p.Ser433=)
NM_000264.5(PTCH1):c.1299_1302dup (p.Ser435fs)
NM_000264.5(PTCH1):c.1300T>C (p.Phe434Leu) rs2118332463
NM_000264.5(PTCH1):c.1301T>C (p.Phe434Ser) rs1841222850
NM_000264.5(PTCH1):c.1302C>A (p.Phe434Leu)
NM_000264.5(PTCH1):c.1302C>T (p.Phe434=) rs2118332323
NM_000264.5(PTCH1):c.1303dup (p.Ser435fs) rs2118332288
NM_000264.5(PTCH1):c.1304C>G (p.Ser435Cys) rs2118332232
NM_000264.5(PTCH1):c.1305T>A (p.Ser435=) rs1554698806
NM_000264.5(PTCH1):c.1305T>C (p.Ser435=)
NM_000264.5(PTCH1):c.1307_1308delinsCA (p.Asp436Ala)
NM_000264.5(PTCH1):c.1307dup (p.Asp436fs) rs1554698800
NM_000264.5(PTCH1):c.1308C>A (p.Asp436Glu) rs148471237
NM_000264.5(PTCH1):c.1308del (p.Asp436fs) rs1060502295
NM_000264.5(PTCH1):c.1309G>A (p.Val437Ile) rs1293146883
NM_000264.5(PTCH1):c.1312A>G (p.Ser438Gly) rs2118331535
NM_000264.5(PTCH1):c.1313G>T (p.Ser438Ile)
NM_000264.5(PTCH1):c.1314T>A (p.Ser438Arg) rs1588602538
NM_000264.5(PTCH1):c.1321C>T (p.Arg441Cys)
NM_000264.5(PTCH1):c.1321del (p.Arg441fs)
NM_000264.5(PTCH1):c.1322G>C (p.Arg441Pro) rs767273237
NM_000264.5(PTCH1):c.1323C>T (p.Arg441=) rs1060504540
NM_000264.5(PTCH1):c.1324G>C (p.Val442Leu)
NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu) rs759493890
NM_000264.5(PTCH1):c.1327G>T (p.Ala443Ser) rs2118330345
NM_000264.5(PTCH1):c.1328C>G (p.Ala443Gly) rs878853845
NM_000264.5(PTCH1):c.1328C>T (p.Ala443Val) rs878853845
NM_000264.5(PTCH1):c.1329del (p.Ser444fs) rs864622374
NM_000264.5(PTCH1):c.1331G>A (p.Ser444Asn) rs1588602411
NM_000264.5(PTCH1):c.1332C>A (p.Ser444Arg) rs373930674
NM_000264.5(PTCH1):c.1332_1333insAA (p.Gly445fs) rs1841217203
NM_000264.5(PTCH1):c.1333G>A (p.Gly445Ser) rs2118329828
NM_000264.5(PTCH1):c.1334G>A (p.Gly445Asp) rs2118329688
NM_000264.5(PTCH1):c.1334del (p.Gly445fs) rs1131690978
NM_000264.5(PTCH1):c.1337A>C (p.Tyr446Ser) rs2118329512
NM_000264.5(PTCH1):c.1337A>G (p.Tyr446Cys) rs2118329512
NM_000264.5(PTCH1):c.1338C>A (p.Tyr446Ter) rs2118329441
NM_000264.5(PTCH1):c.1341dup (p.Leu448fs) rs1588602354
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val) rs537871675
NM_000264.5(PTCH1):c.1342C>T (p.Leu448Phe)
NM_000264.5(PTCH1):c.1342_1345del (p.Leu448fs) rs1564051237
NM_000264.5(PTCH1):c.1345_1347del (p.Met449del) rs1554698774
NM_000264.5(PTCH1):c.1346T>G (p.Met449Arg) rs1841214843
NM_000264.5(PTCH1):c.1347+10G>C rs370916305
NM_000264.5(PTCH1):c.1347+12T>C rs2118327578
NM_000264.5(PTCH1):c.1347+14C>T
NM_000264.5(PTCH1):c.1347+1G>A
NM_000264.5(PTCH1):c.1347+20T>C
NM_000264.5(PTCH1):c.1347+2T>C rs1841214135
NM_000264.5(PTCH1):c.1347+6G>A rs372655486
NM_000264.5(PTCH1):c.1347+6G>C
NM_000264.5(PTCH1):c.1347+6G>T rs372655486
NM_000264.5(PTCH1):c.1347+9C>G rs775905392
NM_000264.5(PTCH1):c.1348-13G>A rs2118313377
NM_000264.5(PTCH1):c.1348-13G>T rs2118313377
NM_000264.5(PTCH1):c.1348-14_1370del rs1554698613
NM_000264.5(PTCH1):c.1348-16A>G
NM_000264.5(PTCH1):c.1348-17C>G rs2118313541
NM_000264.5(PTCH1):c.1348-17del
NM_000264.5(PTCH1):c.1348-19C>T
NM_000264.5(PTCH1):c.1348-1G>A rs1841170844
NM_000264.5(PTCH1):c.1348-2A>G rs1064793978
NM_000264.5(PTCH1):c.1348-8G>T rs2118313205
NM_000264.5(PTCH1):c.1350C>A (p.Leu450=) rs369109033
NM_000264.5(PTCH1):c.1350C>G (p.Leu450=) rs369109033
NM_000264.5(PTCH1):c.1351G>C (p.Ala451Pro)
NM_000264.5(PTCH1):c.1353_1356dup (p.Ala453fs) rs1564050405
NM_000264.5(PTCH1):c.1355A>G (p.Tyr452Cys) rs1255345516
NM_000264.5(PTCH1):c.1355dup (p.Tyr452Ter)
NM_000264.5(PTCH1):c.1356T>A (p.Tyr452Ter)
NM_000264.5(PTCH1):c.1356T>C (p.Tyr452=) rs2118311917
NM_000264.5(PTCH1):c.1359C>G (p.Ala453=) rs1564050395
NM_000264.5(PTCH1):c.1361_1364del (p.Ala453_Cys454insTer) rs2118311257
NM_000264.5(PTCH1):c.1364dup (p.Thr456fs) rs1588600929
NM_000264.5(PTCH1):c.1365A>C (p.Leu455=) rs746805188
NM_000264.5(PTCH1):c.1365A>G (p.Leu455=) rs746805188
NM_000264.5(PTCH1):c.1366A>C (p.Thr456Pro) rs1841168008
NM_000264.5(PTCH1):c.1368C>T (p.Thr456=) rs2118310809
NM_000264.5(PTCH1):c.1370T>A (p.Met457Lys)
NM_000264.5(PTCH1):c.1370T>G (p.Met457Arg) rs2118310654
NM_000264.5(PTCH1):c.1372C>T (p.Leu458=)
NM_000264.5(PTCH1):c.1375C>G (p.Arg459Gly)
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
NM_000264.5(PTCH1):c.1377C>A (p.Arg459=)
NM_000264.5(PTCH1):c.1377C>T (p.Arg459=)
NM_000264.5(PTCH1):c.1378T>C (p.Trp460Arg) rs1841166322
NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter) rs1131690974
NM_000264.5(PTCH1):c.1381G>A (p.Asp461Asn)
NM_000264.5(PTCH1):c.1384T>A (p.Cys462Ser) rs1588600865
NM_000264.5(PTCH1):c.1384T>C (p.Cys462Arg)
NM_000264.5(PTCH1):c.1384T>G (p.Cys462Gly)
NM_000264.5(PTCH1):c.1389C>T (p.Ser463=)
NM_000264.5(PTCH1):c.1391A>T (p.Lys464Met)
NM_000264.5(PTCH1):c.1395C>G (p.Ser465=)
NM_000264.5(PTCH1):c.1400G>T (p.Gly467Val)
NM_000264.5(PTCH1):c.1405G>A (p.Val469Met) rs1438523462
NM_000264.5(PTCH1):c.1408G>A (p.Gly470Arg) rs1564050210
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
NM_000264.5(PTCH1):c.1411C>G (p.Leu471Val)
NM_000264.5(PTCH1):c.1414G>A (p.Ala472Thr) rs899465701
NM_000264.5(PTCH1):c.1414G>T (p.Ala472Ser) rs899465701
NM_000264.5(PTCH1):c.1416_1419del (p.Gly473fs) rs1564050178
NM_000264.5(PTCH1):c.1418G>A (p.Gly473Asp) rs1841159429
NM_000264.5(PTCH1):c.1418_1432del (p.Gly473_Val477del) rs1554698582
NM_000264.5(PTCH1):c.1419C>G (p.Gly473=) rs774841100
NM_000264.5(PTCH1):c.1419_1429del (p.Val474fs) rs2118306407
NM_000264.5(PTCH1):c.1425G>C (p.Leu475=)
NM_000264.5(PTCH1):c.1426C>T (p.Leu476=)
NM_000264.5(PTCH1):c.1428G>T (p.Leu476=)
NM_000264.5(PTCH1):c.1433C>T (p.Ala478Val)
NM_000264.5(PTCH1):c.1435C>G (p.Leu479Val)
NM_000264.5(PTCH1):c.1435C>T (p.Leu479=) rs1298358252
NM_000264.5(PTCH1):c.1435del (p.Leu479fs)
NM_000264.5(PTCH1):c.1437G>A (p.Leu479=) rs1588600596
NM_000264.5(PTCH1):c.1437G>C (p.Leu479=)
NM_000264.5(PTCH1):c.1445C>T (p.Ala482Val)
NM_000264.5(PTCH1):c.1449A>G (p.Ala483=)
NM_000264.5(PTCH1):c.1450G>A (p.Gly484Arg) rs1841155526
NM_000264.5(PTCH1):c.1452A>G (p.Gly484=)
NM_000264.5(PTCH1):c.1455G>A (p.Leu485=) rs2118305061
NM_000264.5(PTCH1):c.1459C>T (p.Leu487=) rs1588600570
NM_000264.5(PTCH1):c.1459_1499del (p.Leu487fs)
NM_000264.5(PTCH1):c.1460T>G (p.Leu487Arg) rs2118304794
NM_000264.5(PTCH1):c.1465T>G (p.Ser489Ala) rs2118304226
NM_000264.5(PTCH1):c.1473C>G (p.Ile491Met) rs768183391
NM_000264.5(PTCH1):c.1474G>A (p.Gly492Arg) rs2118303660
NM_000264.5(PTCH1):c.1476A>C (p.Gly492=) rs1057515720
NM_000264.5(PTCH1):c.1476A>G (p.Gly492=) rs1057515720
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala) rs1057515719
NM_000264.5(PTCH1):c.1480dup (p.Ser494fs) rs2118303436
NM_000264.5(PTCH1):c.1481C>G (p.Ser494Cys)
NM_000264.5(PTCH1):c.1481C>T (p.Ser494Phe)
NM_000264.5(PTCH1):c.1482C>G (p.Ser494=)
NM_000264.5(PTCH1):c.1482del (p.Phe495fs)
NM_000264.5(PTCH1):c.1483T>G (p.Phe495Val)
NM_000264.5(PTCH1):c.1485T>C (p.Phe495=)
NM_000264.5(PTCH1):c.1485del (p.Phe495fs) rs1554698531
NM_000264.5(PTCH1):c.1485dup (p.Asn496Ter)
NM_000264.5(PTCH1):c.1487_1488delinsTA (p.Asn496Ile) rs2118303008
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=) rs1060504538
NM_000264.5(PTCH1):c.1492G>A (p.Ala498Thr) rs1841150573
NM_000264.5(PTCH1):c.1496C>A (p.Thr499Lys) rs1298115628
NM_000264.5(PTCH1):c.1496C>G (p.Thr499Arg)
NM_000264.5(PTCH1):c.1502A>G (p.Gln501Arg) rs863225054
NM_000264.5(PTCH1):c.1503+16T>C
NM_000264.5(PTCH1):c.1503+17T>G
NM_000264.5(PTCH1):c.1503+19A>G
NM_000264.5(PTCH1):c.1503+1G>C rs864622293
NM_000264.5(PTCH1):c.1503+1G>T rs864622293
NM_000264.5(PTCH1):c.1503+2T>A
NM_000264.5(PTCH1):c.1503+2T>C rs2118302461
NM_000264.5(PTCH1):c.1503+3A>G rs878853846
NM_000264.5(PTCH1):c.1503+4C>A
NM_000264.5(PTCH1):c.1503+7A>C rs779797845
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=) rs1085307511
NM_000264.5(PTCH1):c.1503G>C (p.Gln501His) rs1085307511
NM_000264.5(PTCH1):c.1503G>T (p.Gln501His) rs1085307511
NM_000264.5(PTCH1):c.1504-13_1504-11del
NM_000264.5(PTCH1):c.1504-14T>C
NM_000264.5(PTCH1):c.1504-15_1504-14del
NM_000264.5(PTCH1):c.1504-17C>G rs1196072511
NM_000264.5(PTCH1):c.1504-1G>C rs1057518400
NM_000264.5(PTCH1):c.1504-3T>C rs1588598721
NM_000264.5(PTCH1):c.1504-4G>A rs1588598729
NM_000264.5(PTCH1):c.1504-4G>C
NM_000264.5(PTCH1):c.1504-5T>C
NM_000264.5(PTCH1):c.1504-8_1504-7inv
NM_000264.5(PTCH1):c.1504-8del rs2118287389
NM_000264.5(PTCH1):c.1504-9T>C
NM_000264.5(PTCH1):c.1508T>G (p.Leu503Trp) rs1841078928
NM_000264.5(PTCH1):c.1511C>A (p.Pro504Gln) rs1588598694
NM_000264.5(PTCH1):c.1512A>G (p.Pro504=)
NM_000264.5(PTCH1):c.1516C>T (p.Leu506Phe)
NM_000264.5(PTCH1):c.1518C>T (p.Leu506=) rs1374700325
NM_000264.5(PTCH1):c.1520C>T (p.Ala507Val)
NM_000264.5(PTCH1):c.1524T>C (p.Leu508=) rs778837458
NM_000264.5(PTCH1):c.1524TGGTGT[1] (p.509GV[1]) rs1841077120
NM_000264.5(PTCH1):c.1525G>C (p.Gly509Arg) rs2118285458
NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp) rs1060502268
NM_000264.5(PTCH1):c.1526G>T (p.Gly509Val) rs1060502268
NM_000264.5(PTCH1):c.1527T>C (p.Gly509=) rs2118285107
NM_000264.5(PTCH1):c.1531G>C (p.Gly511Arg) rs1588598613
NM_000264.5(PTCH1):c.1533T>C (p.Gly511=) rs2118284366
NM_000264.5(PTCH1):c.1537G>A (p.Asp513Asn) rs1588598595
NM_000264.5(PTCH1):c.1538A>T (p.Asp513Val) rs1564048907
NM_000264.5(PTCH1):c.1538ATG[1] (p.Asp514del) rs2118283647
NM_000264.5(PTCH1):c.1541A>G (p.Asp514Gly)
NM_000264.5(PTCH1):c.1543G>A (p.Val515Ile) rs2118283531
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val) rs1554698288
NM_000264.5(PTCH1):c.1549C>T (p.Leu517Phe) rs2118283054
NM_000264.5(PTCH1):c.1550T>C (p.Leu517Pro)
NM_000264.5(PTCH1):c.1554G>A (p.Leu518=) rs1841075494
NM_000264.5(PTCH1):c.1555_1556delinsTA (p.Ala519Tyr) rs1554698275
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr) rs781101191
NM_000264.5(PTCH1):c.1562C>T (p.Ala521Val) rs755139183
NM_000264.5(PTCH1):c.1566C>G (p.Phe522Leu) rs2118281892
NM_000264.5(PTCH1):c.1566C>T (p.Phe522=) rs2118281892
NM_000264.5(PTCH1):c.1567A>G (p.Ser523Gly) rs2118281828
NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr) rs751778283
NM_000264.5(PTCH1):c.1571A>C (p.Glu524Ala) rs2118281472
NM_000264.5(PTCH1):c.1573A>G (p.Thr525Ala)
NM_000264.5(PTCH1):c.1577G>A (p.Gly526Glu) rs1841074166
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter) rs1554698260
NM_000264.5(PTCH1):c.1583A>G (p.Asn528Ser) rs1841073512
NM_000264.5(PTCH1):c.1583dup (p.Asn528fs) rs1554698258
NM_000264.5(PTCH1):c.1584T>C (p.Asn528=) rs2118280594
NM_000264.5(PTCH1):c.1585A>G (p.Lys529Glu) rs780434261
NM_000264.5(PTCH1):c.1589G>A (p.Arg530Lys) rs1841073027
NM_000264.5(PTCH1):c.1591_1601del (p.Ile531fs) rs863225055
NM_000264.5(PTCH1):c.1592T>C (p.Ile531Thr) rs1227526379
NM_000264.5(PTCH1):c.1596T>A (p.Pro532=) rs1588598399
NM_000264.5(PTCH1):c.1598T>C (p.Phe533Ser) rs1318015818
NM_000264.5(PTCH1):c.1600G>A (p.Glu534Lys) rs1323512738
NM_000264.5(PTCH1):c.1602+12A>G
NM_000264.5(PTCH1):c.1602+13C>G
NM_000264.5(PTCH1):c.1602+14A>G
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.1602+16A>C
NM_000264.5(PTCH1):c.1602+16A>G rs1841069539
NM_000264.5(PTCH1):c.1602+19A>T
NM_000264.5(PTCH1):c.1602+19_1602+20del
NM_000264.5(PTCH1):c.1602+1G>A rs1060502277
NM_000264.5(PTCH1):c.1602+1G>T rs1060502277
NM_000264.5(PTCH1):c.1602+20_1602+22del
NM_000264.5(PTCH1):c.1602+2T>C
NM_000264.5(PTCH1):c.1602+3A>T
NM_000264.5(PTCH1):c.1602+5T>C
NM_000264.5(PTCH1):c.1602+7C>G rs920792441
NM_000264.5(PTCH1):c.1602+7C>T rs920792441
NM_000264.5(PTCH1):c.1602+8A>G rs1554698205
NM_000264.5(PTCH1):c.1602+9A>G
NM_000264.5(PTCH1):c.1603-11T>G
NM_000264.5(PTCH1):c.1603-13T>C
NM_000264.5(PTCH1):c.1603-15T>C
NM_000264.5(PTCH1):c.1603-15T>G
NM_000264.5(PTCH1):c.1603-16_1603-15del rs2118263773
NM_000264.5(PTCH1):c.1603-19T>G
NM_000264.5(PTCH1):c.1603-1G>A rs2118262541
NM_000264.5(PTCH1):c.1603-20C>T
NM_000264.5(PTCH1):c.1603-2A>G rs1064793921
NM_000264.5(PTCH1):c.1603-4C>T
NM_000264.5(PTCH1):c.1603-6T>C rs2118262896
NM_000264.5(PTCH1):c.1603-7T>C
NM_000264.5(PTCH1):c.1603-8A>G
NM_000264.5(PTCH1):c.1603-8A>T rs2118263115
NM_000264.5(PTCH1):c.1603-8del rs2118263201
NM_000264.5(PTCH1):c.1603-9dup rs759445912
NM_000264.5(PTCH1):c.1605C>G (p.Asp535Glu)
NM_000264.5(PTCH1):c.1610C>T (p.Thr537Ile) rs2118261336
NM_000264.5(PTCH1):c.1611C>T (p.Thr537=) rs780344685
NM_000264.5(PTCH1):c.1612G>A (p.Gly538Arg) rs1347882326
NM_000264.5(PTCH1):c.1612G>C (p.Gly538Arg)
NM_000264.5(PTCH1):c.1615G>C (p.Glu539Gln) rs2118260596
NM_000264.5(PTCH1):c.1615del (p.Glu539fs) rs878853847
NM_000264.5(PTCH1):c.1617G>T (p.Glu539Asp) rs1221665069
NM_000264.5(PTCH1):c.1619G>A (p.Cys540Tyr)
NM_000264.5(PTCH1):c.1619G>T (p.Cys540Phe)
NM_000264.5(PTCH1):c.161G>A (p.Ser54Asn)
NM_000264.5(PTCH1):c.1620C>T (p.Cys540=) rs1841017295
NM_000264.5(PTCH1):c.1623G>C (p.Leu541=)
NM_000264.5(PTCH1):c.1624A>C (p.Lys542Gln)
NM_000264.5(PTCH1):c.1624A>T (p.Lys542Ter)
NM_000264.5(PTCH1):c.1625dup (p.Arg543fs) rs1588596702
NM_000264.5(PTCH1):c.1626G>A (p.Lys542=)
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys) rs137903539
NM_000264.5(PTCH1):c.1629C>G (p.Arg543=) rs557468315
NM_000264.5(PTCH1):c.1630A>G (p.Thr544Ala) rs1841014826
NM_000264.5(PTCH1):c.1631C>T (p.Thr544Ile) rs1841014632
NM_000264.5(PTCH1):c.1632A>G (p.Thr544=)
NM_000264.5(PTCH1):c.1636G>A (p.Ala546Thr)
NM_000264.5(PTCH1):c.1637C>G (p.Ala546Gly)
NM_000264.5(PTCH1):c.163T>C (p.Tyr55His) rs1843889465
NM_000264.5(PTCH1):c.1640G>C (p.Ser547Thr) rs1564047095
NM_000264.5(PTCH1):c.1640G>T (p.Ser547Ile) rs1564047095
NM_000264.5(PTCH1):c.1642G>T (p.Val548Leu)
NM_000264.5(PTCH1):c.1647C>T (p.Ala549=) rs2118256501
NM_000264.5(PTCH1):c.164A>G (p.Tyr55Cys) rs1205081001
NM_000264.5(PTCH1):c.1651dup (p.Thr551fs) rs1554697928
NM_000264.5(PTCH1):c.1652C>A (p.Thr551Lys)
NM_000264.5(PTCH1):c.1652C>G (p.Thr551Arg) rs863224649
NM_000264.5(PTCH1):c.1652C>T (p.Thr551Met) rs863224649
NM_000264.5(PTCH1):c.1652_1660del (p.Thr551_Ile553del)
NM_000264.5(PTCH1):c.1654T>G (p.Ser552Ala) rs1841012358
NM_000264.5(PTCH1):c.1654_1655dup (p.Ile553fs) rs2118255495
NM_000264.5(PTCH1):c.1656C>T (p.Ser552=)
NM_000264.5(PTCH1):c.1657A>G (p.Ile553Val)
NM_000264.5(PTCH1):c.1660A>C (p.Ser554Arg) rs1060502282
NM_000264.5(PTCH1):c.1660A>T (p.Ser554Cys) rs1060502282
NM_000264.5(PTCH1):c.1661G>C (p.Ser554Thr) rs148367880
NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile) rs1318405179
NM_000264.5(PTCH1):c.166T>C (p.Cys56Arg)
NM_000264.5(PTCH1):c.1671A>G (p.Thr557=) rs1564046825
NM_000264.5(PTCH1):c.1672G>A (p.Ala558Thr) rs2118253278
NM_000264.5(PTCH1):c.1673C>T (p.Ala558Val)
NM_000264.5(PTCH1):c.1676T>C (p.Phe559Ser)
NM_000264.5(PTCH1):c.1677C>T (p.Phe559=) rs2118252807
NM_000264.5(PTCH1):c.1678T>C (p.Phe560Leu)
NM_000264.5(PTCH1):c.1679T>C (p.Phe560Ser) rs1564046809
NM_000264.5(PTCH1):c.167G>A (p.Cys56Tyr)
NM_000264.5(PTCH1):c.1680C>T (p.Phe560=)
NM_000264.5(PTCH1):c.1681A>G (p.Met561Val) rs1332335605
NM_000264.5(PTCH1):c.1681A>T (p.Met561Leu)
NM_000264.5(PTCH1):c.1682T>C (p.Met561Thr)
NM_000264.5(PTCH1):c.1683G>A (p.Met561Ile) rs1841007617
NM_000264.5(PTCH1):c.1686C>A (p.Ala562=)
NM_000264.5(PTCH1):c.1686C>G (p.Ala562=) rs2066836
NM_000264.5(PTCH1):c.1687G>A (p.Ala563Thr) rs146616780
NM_000264.5(PTCH1):c.1689G>A (p.Ala563=) rs371757261
NM_000264.5(PTCH1):c.1689G>C (p.Ala563=) rs371757261
NM_000264.5(PTCH1):c.1689G>T (p.Ala563=)
NM_000264.5(PTCH1):c.168C>T (p.Cys56=) rs2118906879
NM_000264.5(PTCH1):c.1690T>C (p.Leu564=)
NM_000264.5(PTCH1):c.1691T>A (p.Leu564Ter) rs2118251139
NM_000264.5(PTCH1):c.1693A>G (p.Ile565Val) rs778170244
NM_000264.5(PTCH1):c.1695C>G (p.Ile565Met) rs1564046738
NM_000264.5(PTCH1):c.1698A>C (p.Pro566=) rs2118250352
NM_000264.5(PTCH1):c.1699A>G (p.Ile567Val) rs200504753
NM_000264.5(PTCH1):c.169G>A (p.Asp57Asn)
NM_000264.5(PTCH1):c.1704del (p.Ala569fs) rs776154605
NM_000264.5(PTCH1):c.1705G>A (p.Ala569Thr) rs753240797
NM_000264.5(PTCH1):c.1706C>A (p.Ala569Asp) rs766973191
NM_000264.5(PTCH1):c.1706C>G (p.Ala569Gly)
NM_000264.5(PTCH1):c.1706C>T (p.Ala569Val)
NM_000264.5(PTCH1):c.1707T>C (p.Ala569=) rs2118249592
NM_000264.5(PTCH1):c.1708C>G (p.Leu570Val) rs1841004985
NM_000264.5(PTCH1):c.1709_1721del (p.Leu570fs) rs1554697839
NM_000264.5(PTCH1):c.1710G>A (p.Leu570=)
NM_000264.5(PTCH1):c.1710G>C (p.Leu570=) rs374924167
NM_000264.5(PTCH1):c.1713G>A (p.Arg571=) rs762575636
NM_000264.5(PTCH1):c.1714G>A (p.Ala572Thr)
NM_000264.5(PTCH1):c.1714G>T (p.Ala572Ser) rs1588596119
NM_000264.5(PTCH1):c.1715C>T (p.Ala572Val) rs1485556285
NM_000264.5(PTCH1):c.1716G>A (p.Ala572=) rs55844310
NM_000264.5(PTCH1):c.1716G>C (p.Ala572=) rs55844310
NM_000264.5(PTCH1):c.1719C>G (p.Phe573Leu)
NM_000264.5(PTCH1):c.171C>A (p.Asp57Glu) rs1485701312
NM_000264.5(PTCH1):c.171C>G (p.Asp57Glu) rs1485701312
NM_000264.5(PTCH1):c.171C>T (p.Asp57=) rs1485701312
NM_000264.5(PTCH1):c.1721C>T (p.Ser574Phe) rs1841002219
NM_000264.5(PTCH1):c.1722C>A (p.Ser574=)
NM_000264.5(PTCH1):c.1726C>T (p.Gln576Ter)
NM_000264.5(PTCH1):c.1728+12G>C rs2118247350
NM_000264.5(PTCH1):c.1728+14G>A
NM_000264.5(PTCH1):c.1728+15A>T rs771991404
NM_000264.5(PTCH1):c.1728+19A>G rs774363073
NM_000264.5(PTCH1):c.1728+19del rs2118246919
NM_000264.5(PTCH1):c.1728+3G>A
NM_000264.5(PTCH1):c.1728+3G>C rs1588596061
NM_000264.5(PTCH1):c.1728+4A>G
NM_000264.5(PTCH1):c.1728+6C>A rs761805788
NM_000264.5(PTCH1):c.1728+8T>G rs864622243
NM_000264.5(PTCH1):c.1728+9C>T rs1060504541
NM_000264.5(PTCH1):c.1728G>T (p.Gln576His) rs1841001917
NM_000264.5(PTCH1):c.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.182C>T (p.Ala61Val)
NM_000264.5(PTCH1):c.183T>C (p.Ala61=) rs2118906517
NM_000264.5(PTCH1):c.184C>G (p.Leu62Val) rs1843886204
NM_000264.5(PTCH1):c.186G>A (p.Leu62=)
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.192G>A (p.Gln64=) rs1843885224
NM_000264.5(PTCH1):c.192G>C (p.Gln64His) rs1843885224
NM_000264.5(PTCH1):c.192G>T (p.Gln64His)
NM_000264.5(PTCH1):c.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.198C>T (p.Ser66=) rs1355794957
NM_000264.5(PTCH1):c.200A>C (p.Lys67Thr) rs1843883983
NM_000264.5(PTCH1):c.201+10A>G
NM_000264.5(PTCH1):c.201+11G>C
NM_000264.5(PTCH1):c.201+12A>T
NM_000264.5(PTCH1):c.201+13C>T
NM_000264.5(PTCH1):c.201+14T>A
NM_000264.5(PTCH1):c.201+14TC[2] rs758866712
NM_000264.5(PTCH1):c.201+15C>G
NM_000264.5(PTCH1):c.201+15C>T
NM_000264.5(PTCH1):c.201+16T>A
NM_000264.5(PTCH1):c.201+16_201+19del
NM_000264.5(PTCH1):c.201+17C>G rs750650083
NM_000264.5(PTCH1):c.201+17C>T rs750650083
NM_000264.5(PTCH1):c.201+18T>C rs2118905834
NM_000264.5(PTCH1):c.201+19C>A rs765308113
NM_000264.5(PTCH1):c.201+1G>T
NM_000264.5(PTCH1):c.201+20C>T
NM_000264.5(PTCH1):c.201+2_201+3dup rs2118906154
NM_000264.5(PTCH1):c.201+3G>A rs1394306522
NM_000264.5(PTCH1):c.201+3G>T rs1394306522
NM_000264.5(PTCH1):c.201+5A>G rs1843883183
NM_000264.5(PTCH1):c.201+8del rs2118906058
NM_000264.5(PTCH1):c.201+9C>T rs751905115
NM_000264.5(PTCH1):c.202-1G>C rs2118881561
NM_000264.5(PTCH1):c.202-2A>C rs878853849
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000264.5(PTCH1):c.204G>A (p.Gly68=) rs547930654
NM_000264.5(PTCH1):c.204G>T (p.Gly68=) rs547930654
NM_000264.5(PTCH1):c.207G>A (p.Lys69=) rs1320211956
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val) rs764137082
NM_000264.5(PTCH1):c.211A>T (p.Thr71Ser)
NM_000264.5(PTCH1):c.214G>A (p.Gly72Ser)
NM_000264.5(PTCH1):c.216C>G (p.Gly72=) rs1383963652
NM_000264.5(PTCH1):c.218G>A (p.Arg73Gln)
NM_000264.5(PTCH1):c.222A>G (p.Lys74=)
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.228G>C (p.Pro76=)
NM_000264.5(PTCH1):c.229C>G (p.Leu77Val)
NM_000264.5(PTCH1):c.229C>T (p.Leu77=)
NM_000264.5(PTCH1):c.232_233del (p.Trp78fs)
NM_000264.5(PTCH1):c.233G>A (p.Trp78Ter) rs1843665508
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter) rs1554708787
NM_000264.5(PTCH1):c.234G>T (p.Trp78Cys) rs1554708787
NM_000264.5(PTCH1):c.235C>A (p.Leu79Met) rs1564088372
NM_000264.5(PTCH1):c.235C>G (p.Leu79Val)
NM_000264.5(PTCH1):c.235C>T (p.Leu79=)
NM_000264.5(PTCH1):c.239G>A (p.Arg80Lys)
NM_000264.5(PTCH1):c.239G>C (p.Arg80Thr)
NM_000264.5(PTCH1):c.241G>A (p.Ala81Thr) rs2118880380
NM_000264.5(PTCH1):c.242C>G (p.Ala81Gly) rs1843664597
NM_000264.5(PTCH1):c.243G>A (p.Ala81=) rs1444883189
NM_000264.5(PTCH1):c.244delinsCTTCTGAG (p.Lys82fs)
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.250C>T (p.Gln84Ter)
NM_000264.5(PTCH1):c.250_251del (p.Gln84fs) rs1843663751
NM_000264.5(PTCH1):c.251_258del (p.Gln84fs) rs1587693623
NM_000264.5(PTCH1):c.252G>A (p.Gln84=) rs587780698
NM_000264.5(PTCH1):c.253A>C (p.Arg85=) rs1554708772
NM_000264.5(PTCH1):c.253A>G (p.Arg85Gly) rs1554708772
NM_000264.5(PTCH1):c.254_255del (p.Arg85fs) rs1554708771
NM_000264.5(PTCH1):c.2561-10C>A rs763935951
NM_000264.5(PTCH1):c.2561-15A>T
NM_000264.5(PTCH1):c.2561-16C>A rs1588551982
NM_000264.5(PTCH1):c.2561-17T>C
NM_000264.5(PTCH1):c.2561-1G>A rs1131691700
NM_000264.5(PTCH1):c.2561-20C>G
NM_000264.5(PTCH1):c.2561-2A>G rs878853852
NM_000264.5(PTCH1):c.2561-2A>T rs878853852
NM_000264.5(PTCH1):c.2561-8A>G rs2136690155
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=) rs751613059
NM_000264.5(PTCH1):c.2569del (p.Asp857fs)
NM_000264.5(PTCH1):c.2570A>G (p.Asp857Gly)
NM_000264.5(PTCH1):c.2572G>A (p.Ala858Thr) rs1703756604
NM_000264.5(PTCH1):c.2572G>T (p.Ala858Ser) rs1703756604
NM_000264.5(PTCH1):c.2573C>T (p.Ala858Val)
NM_000264.5(PTCH1):c.2573del (p.Ala858fs) rs2136689747
NM_000264.5(PTCH1):c.2581A>G (p.Ser861Gly)
NM_000264.5(PTCH1):c.2582G>A (p.Ser861Asn) rs2136689511
NM_000264.5(PTCH1):c.2582del (p.Ser861fs) rs2136689543
NM_000264.5(PTCH1):c.2587T>C (p.Trp863Arg)
NM_000264.5(PTCH1):c.2588G>A (p.Trp863Ter) rs1839516520
NM_000264.5(PTCH1):c.2589G>T (p.Trp863Cys) rs1277861627
NM_000264.5(PTCH1):c.258C>A (p.Leu86=) rs1060504533
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs) rs864622212
NM_000264.5(PTCH1):c.2590G>T (p.Glu864Ter) rs2136689297
NM_000264.5(PTCH1):c.2592A>G (p.Glu864=) rs1839515955
NM_000264.5(PTCH1):c.2594C>G (p.Thr865Ser) rs1839515437
NM_000264.5(PTCH1):c.2595C>G (p.Thr865=)
NM_000264.5(PTCH1):c.2595del (p.Ile868fs) rs2136689212
NM_000264.5(PTCH1):c.2597G>A (p.Gly866Glu) rs863224651
NM_000264.5(PTCH1):c.2598G>A (p.Gly866=) rs2136689118
NM_000264.5(PTCH1):c.259T>C (p.Leu87=)
NM_000264.5(PTCH1):c.259_260del (p.Leu87fs) rs1554708760
NM_000264.5(PTCH1):c.259_264del (p.Leu87_Phe88del) rs1060502296
NM_000264.5(PTCH1):c.2601A>G (p.Lys867=) rs568888639
NM_000264.5(PTCH1):c.2605A>G (p.Met869Val) rs2136689015
NM_000264.5(PTCH1):c.2606T>A (p.Met869Lys) rs1345518847
NM_000264.5(PTCH1):c.2607G>A (p.Met869Ile) rs2136688957
NM_000264.5(PTCH1):c.260dup (p.Leu87fs) rs2118879524
NM_000264.5(PTCH1):c.2611A>G (p.Asn871Asp)
NM_000264.5(PTCH1):c.2615A>C (p.Asn872Thr) rs769029578
NM_000264.5(PTCH1):c.2617T>C (p.Tyr873His) rs2136688723
NM_000264.5(PTCH1):c.2618A>G (p.Tyr873Cys) rs1839512647
NM_000264.5(PTCH1):c.2619C>G (p.Tyr873Ter) rs1554692291
NM_000264.5(PTCH1):c.2620A>G (p.Lys874Glu) rs2136688658
NM_000264.5(PTCH1):c.2622G>T (p.Lys874Asn)
NM_000264.5(PTCH1):c.2625T>C (p.Asn875=) rs1389183150
NM_000264.5(PTCH1):c.262_265del (p.Phe88fs) rs2118879343
NM_000264.5(PTCH1):c.2634C>A (p.Asp878Glu) rs771732591
NM_000264.5(PTCH1):c.2634C>G (p.Asp878Glu) rs771732591
NM_000264.5(PTCH1):c.2634C>T (p.Asp878=) rs771732591
NM_000264.5(PTCH1):c.2637T>C (p.Asp879=) rs2136688208
NM_000264.5(PTCH1):c.2639del (p.Gly880fs) rs1554692266
NM_000264.5(PTCH1):c.2641G>A (p.Val881Ile)
NM_000264.5(PTCH1):c.2642T>C (p.Val881Ala) rs1839509519
NM_000264.5(PTCH1):c.2643C>G (p.Val881=) rs1588551617
NM_000264.5(PTCH1):c.2651A>C (p.Tyr884Ser)
NM_000264.5(PTCH1):c.2651A>G (p.Tyr884Cys) rs2136687938
NM_000264.5(PTCH1):c.2658C>G (p.Leu886=)
NM_000264.5(PTCH1):c.2659C>T (p.Leu887=) rs2136687780
NM_000264.5(PTCH1):c.2661G>T (p.Leu887=) rs1487503503
NM_000264.5(PTCH1):c.2664G>A (p.Val888=) rs2136687667
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu) rs1839507201
NM_000264.5(PTCH1):c.2667A>G (p.Gln889=) rs777777450
NM_000264.5(PTCH1):c.2667A>T (p.Gln889His) rs777777450
NM_000264.5(PTCH1):c.2669C>A (p.Thr890Asn)
NM_000264.5(PTCH1):c.2669C>T (p.Thr890Ile)
NM_000264.5(PTCH1):c.266A>G (p.Lys89Arg) rs1843661629
NM_000264.5(PTCH1):c.267A>C (p.Lys89Asn)
NM_000264.5(PTCH1):c.2684A>C (p.Lys895Thr) rs1839503876
NM_000264.5(PTCH1):c.2684dup (p.Pro896fs) rs2136687071
NM_000264.5(PTCH1):c.2687C>T (p.Pro896Leu) rs1839503471
NM_000264.5(PTCH1):c.268C>T (p.Leu90=) rs1587693584
NM_000264.5(PTCH1):c.2690T>G (p.Ile897Ser)
NM_000264.5(PTCH1):c.2691C>T (p.Ile897=) rs1055193050
NM_000264.5(PTCH1):c.2692G>C (p.Asp898His)
NM_000264.5(PTCH1):c.2697C>G (p.Ile899Met) rs1588551373
NM_000264.5(PTCH1):c.2698dup (p.Ser900fs)
NM_000264.5(PTCH1):c.2701C>A (p.Gln901Lys)
NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter) rs1064796618
NM_000264.5(PTCH1):c.2702_2703+4del
NM_000264.5(PTCH1):c.2703+10C>G rs1390398176
NM_000264.5(PTCH1):c.2703+12G>A rs1295275193
NM_000264.5(PTCH1):c.2703+1G>A
NM_000264.5(PTCH1):c.2703+20C>T
NM_000264.5(PTCH1):c.2703+4C>T rs1839501465
NM_000264.5(PTCH1):c.2703+6C>G rs956716678
NM_000264.5(PTCH1):c.2703+6C>T rs956716678
NM_000264.5(PTCH1):c.2704-12C>T
NM_000264.5(PTCH1):c.2704-1G>A
NM_000264.5(PTCH1):c.2704-23CT[3] rs2136673668
NM_000264.5(PTCH1):c.2704-4G>T rs864622248
NM_000264.5(PTCH1):c.2704-5del rs2136673527
NM_000264.5(PTCH1):c.2704T>C (p.Leu902=) rs1348603148
NM_000264.5(PTCH1):c.2706G>A (p.Leu902=) rs993814839
NM_000264.5(PTCH1):c.2707A>G (p.Thr903Ala)
NM_000264.5(PTCH1):c.2708C>G (p.Thr903Ser) rs1564021882
NM_000264.5(PTCH1):c.2709T>C (p.Thr903=)
NM_000264.5(PTCH1):c.270_304del (p.Tyr93fs) rs864622583
NM_000264.5(PTCH1):c.2710A>C (p.Lys904Gln) rs2136673392
NM_000264.5(PTCH1):c.2712_2714del (p.Gln905del)
NM_000264.5(PTCH1):c.2713C>A (p.Gln905Lys) rs864622088
NM_000264.5(PTCH1):c.2713C>T (p.Gln905Ter) rs864622088
NM_000264.5(PTCH1):c.2716C>T (p.Arg906Cys) rs1588545099
NM_000264.5(PTCH1):c.2721G>C (p.Leu907=) rs2136673149
NM_000264.5(PTCH1):c.2723_2724del (p.Val908fs) rs1839298779
NM_000264.5(PTCH1):c.2724G>T (p.Val908=) rs1564021832
NM_000264.5(PTCH1):c.2725G>A (p.Asp909Asn) rs1588545054
NM_000264.5(PTCH1):c.2725G>C (p.Asp909His) rs1588545054
NM_000264.5(PTCH1):c.2727T>C (p.Asp909=) rs1588545040
NM_000264.5(PTCH1):c.2729C>G (p.Ala910Gly)
NM_000264.5(PTCH1):c.272G>C (p.Gly91Ala)
NM_000264.5(PTCH1):c.272_278dup (p.Tyr93Ter) rs2118878946
NM_000264.5(PTCH1):c.2730A>C (p.Ala910=)
NM_000264.5(PTCH1):c.2730A>G (p.Ala910=) rs1588545017
NM_000264.5(PTCH1):c.2732A>T (p.Asp911Val) rs1839297206
NM_000264.5(PTCH1):c.2733T>A (p.Asp911Glu) rs1839296987
NM_000264.5(PTCH1):c.2736_2742dup (p.Asn915delinsHisHisTer) rs2136672811
NM_000264.5(PTCH1):c.2737_2741dup (p.Asn915fs)
NM_000264.5(PTCH1):c.2747C>T (p.Pro916Leu) rs1588544970
NM_000264.5(PTCH1):c.2750G>T (p.Ser917Ile) rs1588544954
NM_000264.5(PTCH1):c.2752G>A (p.Ala918Thr) rs2136672620
NM_000264.5(PTCH1):c.2757C>T (p.Phe919=) rs1588544920
NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)
NM_000264.5(PTCH1):c.275G>T (p.Cys92Phe)
NM_000264.5(PTCH1):c.2760C>T (p.Tyr920=) rs1588544909
NM_000264.5(PTCH1):c.2763C>A (p.Ile921=)
NM_000264.5(PTCH1):c.2763C>G (p.Ile921Met) rs1564021738
NM_000264.5(PTCH1):c.2765A>C (p.Tyr922Ser) rs2136672306
NM_000264.5(PTCH1):c.2766C>A (p.Tyr922Ter) rs1554691698
NM_000264.5(PTCH1):c.2766C>T (p.Tyr922=) rs1554691698
NM_000264.5(PTCH1):c.2769G>C (p.Leu923=) rs2136672215
NM_000264.5(PTCH1):c.2770A>T (p.Thr924Ser)
NM_000264.5(PTCH1):c.2772G>A (p.Thr924=) rs1554691694
NM_000264.5(PTCH1):c.2772G>T (p.Thr924=) rs1554691694
NM_000264.5(PTCH1):c.2773_2776delinsTAC (p.Ala925fs)
NM_000264.5(PTCH1):c.2777G>C (p.Trp926Ser) rs2136672063
NM_000264.5(PTCH1):c.2778G>A (p.Trp926Ter)
NM_000264.5(PTCH1):c.277T>C (p.Tyr93His)
NM_000264.5(PTCH1):c.2782A>G (p.Ser928Gly) rs786204224
NM_000264.5(PTCH1):c.2782A>T (p.Ser928Cys) rs786204224
NM_000264.5(PTCH1):c.2783G>C (p.Ser928Thr) rs1554691690
NM_000264.5(PTCH1):c.278A>G (p.Tyr93Cys) rs1564088256
NM_000264.5(PTCH1):c.278dup (p.Tyr93Ter) rs1587693544
NM_000264.5(PTCH1):c.2790C>A (p.Asp930Glu)
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu) rs1839290937
NM_000264.5(PTCH1):c.2796C>A (p.Val932=) rs747931365
NM_000264.5(PTCH1):c.2796C>T (p.Val932=)
NM_000264.5(PTCH1):c.2798C>T (p.Ala933Val) rs768558478
NM_000264.5(PTCH1):c.2799del (p.Tyr934fs) rs863224484
NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer) rs1554708753
NM_000264.5(PTCH1):c.2801A>T (p.Tyr934Phe) rs1209943415
NM_000264.5(PTCH1):c.2802T>G (p.Tyr934Ter) rs1356231878
NM_000264.5(PTCH1):c.2803G>C (p.Ala935Pro) rs1554691676
NM_000264.5(PTCH1):c.2805T>C (p.Ala935=) rs1588544550
NM_000264.5(PTCH1):c.2806G>T (p.Ala936Ser) rs1588544538
NM_000264.5(PTCH1):c.2808C>T (p.Ala936=) rs1393599414
NM_000264.5(PTCH1):c.280A>G (p.Ile94Val) rs1843660253
NM_000264.5(PTCH1):c.2810C>T (p.Ser937Phe) rs1839284772
NM_000264.5(PTCH1):c.2811C>G (p.Ser937=)
NM_000264.5(PTCH1):c.2811C>T (p.Ser937=) rs2136671267
NM_000264.5(PTCH1):c.2812C>G (p.Gln938Glu) rs778810550
NM_000264.5(PTCH1):c.2812C>T (p.Gln938Ter)
NM_000264.5(PTCH1):c.2814G>C (p.Gln938His) rs587780534
NM_000264.5(PTCH1):c.2816C>G (p.Ala939Gly)
NM_000264.5(PTCH1):c.2818A>G (p.Asn940Asp) rs1564021422
NM_000264.5(PTCH1):c.2819A>G (p.Asn940Ser) rs749406453
NM_000264.5(PTCH1):c.2823C>G (p.Ile941Met) rs1839283096
NM_000264.5(PTCH1):c.2823C>T (p.Ile941=) rs1839283096
NM_000264.5(PTCH1):c.2824C>G (p.Arg942Gly) rs756465236
NM_000264.5(PTCH1):c.2824del (p.Arg942fs)
NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln) rs767225445
NM_000264.5(PTCH1):c.2825G>C (p.Arg942Pro) rs767225445
NM_000264.5(PTCH1):c.2826G>A (p.Arg942=) rs934070764
NM_000264.5(PTCH1):c.2827C>T (p.Pro943Ser)
NM_000264.5(PTCH1):c.2829A>G (p.Pro943=) rs150739122
NM_000264.5(PTCH1):c.2830C>T (p.His944Tyr) rs1588544426
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.2837_2838delinsAG (p.Pro946Gln)
NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter) rs1587693508
NM_000264.5(PTCH1):c.2842T>C (p.Trp948Arg)
NM_000264.5(PTCH1):c.2842_2849del (p.Trp948fs) rs863224485
NM_000264.5(PTCH1):c.2844G>A (p.Trp948Ter) rs2136670613
NM_000264.5(PTCH1):c.2845G>T (p.Val949Phe)
NM_000264.5(PTCH1):c.2851G>T (p.Asp951Tyr) rs1588544328
NM_000264.5(PTCH1):c.2853C>G (p.Asp951Glu)
NM_000264.5(PTCH1):c.2857G>A (p.Ala953Thr)
NM_000264.5(PTCH1):c.2863T>C (p.Tyr955His) rs2136670259
NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe) rs1839276876
NM_000264.5(PTCH1):c.2868G>A (p.Met956Ile) rs761501958
NM_000264.5(PTCH1):c.2869C>G (p.Pro957Ala) rs1839275609
NM_000264.5(PTCH1):c.2869C>T (p.Pro957Ser) rs1839275609
NM_000264.5(PTCH1):c.286A>C (p.Lys96Gln)
NM_000264.5(PTCH1):c.286A>G (p.Lys96Glu) rs532713234
NM_000264.5(PTCH1):c.2870C>G (p.Pro957Arg) rs1376533047
NM_000264.5(PTCH1):c.2870del (p.Pro957fs)
NM_000264.5(PTCH1):c.2876C>T (p.Thr959Ile) rs776378611
NM_000264.5(PTCH1):c.2879G>C (p.Arg960Thr)
NM_000264.5(PTCH1):c.2881C>T (p.Leu961=) rs1839273856
NM_000264.5(PTCH1):c.2886_2887insCTA (p.Arg962_Ile963insLeu) rs2136669790
NM_000264.5(PTCH1):c.2887+14T>C
NM_000264.5(PTCH1):c.2887+16T>C
NM_000264.5(PTCH1):c.2887+18G>C
NM_000264.5(PTCH1):c.2887+1G>A
NM_000264.5(PTCH1):c.2887+4A>G rs1588544193
NM_000264.5(PTCH1):c.2887+4_2887+7del rs2136669708
NM_000264.5(PTCH1):c.2887+7A>G rs2136669701
NM_000264.5(PTCH1):c.2888-10C>T rs2136663073
NM_000264.5(PTCH1):c.2888-12T>G
NM_000264.5(PTCH1):c.2888-13C>T
NM_000264.5(PTCH1):c.2888-15C>G rs1372660225
NM_000264.5(PTCH1):c.2888-15C>T rs1372660225
NM_000264.5(PTCH1):c.2888-16G>T rs776279907
NM_000264.5(PTCH1):c.2888-17dup rs2136663140
NM_000264.5(PTCH1):c.2888-18G>A
NM_000264.5(PTCH1):c.2888-4C>T rs1411872086
NM_000264.5(PTCH1):c.2888-8C>T rs567994836
NM_000264.5(PTCH1):c.2888-9T>C
NM_000264.5(PTCH1):c.2889C>G (p.Ile963Met) rs878853853
NM_000264.5(PTCH1):c.288A>G (p.Lys96=) rs1843659466
NM_000264.5(PTCH1):c.2890C>A (p.Pro964Thr) rs1839141749
NM_000264.5(PTCH1):c.2890C>G (p.Pro964Ala) rs1839141749
NM_000264.5(PTCH1):c.2892G>T (p.Pro964=)
NM_000264.5(PTCH1):c.2897C>G (p.Ala966Gly)
NM_000264.5(PTCH1):c.289_290del (p.Asn97fs) rs1554708751
NM_000264.5(PTCH1):c.2902C>T (p.Pro968Ser)
NM_000264.5(PTCH1):c.2904C>G (p.Pro968=) rs1554691433
NM_000264.5(PTCH1):c.2904C>T (p.Pro968=)
NM_000264.5(PTCH1):c.2907C>G (p.Ile969Met) rs748318700
NM_000264.5(PTCH1):c.2907C>T (p.Ile969=) rs748318700
NM_000264.5(PTCH1):c.2908G>A (p.Glu970Lys) rs1201956507
NM_000264.5(PTCH1):c.290_291insG (p.Asn97fs)
NM_000264.5(PTCH1):c.290_291insT (p.Cys98fs)
NM_000264.5(PTCH1):c.290del (p.Asn97fs) rs1554708751
NM_000264.5(PTCH1):c.290dup (p.Asn97fs) rs1554708751
NM_000264.5(PTCH1):c.2914G>C (p.Ala972Pro) rs2136662633
NM_000264.5(PTCH1):c.2915C>G (p.Ala972Gly)
NM_000264.5(PTCH1):c.2916C>G (p.Ala972=) rs1313745659
NM_000264.5(PTCH1):c.2917C>T (p.Gln973Ter)
NM_000264.5(PTCH1):c.2919G>T (p.Gln973His) rs1564019804
NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu)
NM_000264.5(PTCH1):c.2922C>T (p.Phe974=) rs747385350
NM_000264.5(PTCH1):c.2924del (p.Pro975fs)
NM_000264.5(PTCH1):c.2925T>C (p.Pro975=) rs2136662510
NM_000264.5(PTCH1):c.2928C>G (p.Phe976Leu) rs1588540820
NM_000264.5(PTCH1):c.292T>G (p.Cys98Gly)
NM_000264.5(PTCH1):c.2931_2932insGTAGA (p.Leu978fs) rs1554691423
NM_000264.5(PTCH1):c.2933T>C (p.Leu978Pro) rs863224652
NM_000264.5(PTCH1):c.2934C>A (p.Leu978=) rs1588540781
NM_000264.5(PTCH1):c.2935A>C (p.Asn979His) rs1588540767
NM_000264.5(PTCH1):c.2936A>T (p.Asn979Ile)
NM_000264.5(PTCH1):c.2940C>T (p.Gly980=)
NM_000264.5(PTCH1):c.2943G>C (p.Leu981Phe)
NM_000264.5(PTCH1):c.2944C>A (p.Arg982=) rs867973996
NM_000264.5(PTCH1):c.2944C>G (p.Arg982Gly) rs867973996
NM_000264.5(PTCH1):c.2944C>T (p.Arg982Trp)
NM_000264.5(PTCH1):c.2949C>T (p.Asp983=) rs1204950098
NM_000264.5(PTCH1):c.2950A>T (p.Thr984Ser) rs1839130173
NM_000264.5(PTCH1):c.2952C>T (p.Thr984=)
NM_000264.5(PTCH1):c.2954C>G (p.Ser985Ter) rs760297274
NM_000264.5(PTCH1):c.2954_2965del (p.Ser985_Glu989delinsTer)
NM_000264.5(PTCH1):c.2955A>G (p.Ser985=)
NM_000264.5(PTCH1):c.2961T>C (p.Phe987=) rs2136662098
NM_000264.5(PTCH1):c.2962G>A (p.Val988Met)
NM_000264.5(PTCH1):c.2964G>A (p.Val988=)
NM_000264.5(PTCH1):c.2965G>T (p.Glu989Ter) rs1472299295
NM_000264.5(PTCH1):c.296G>A (p.Gly99Asp) rs753884837
NM_000264.5(PTCH1):c.296G>T (p.Gly99Val) rs753884837
NM_000264.5(PTCH1):c.296del (p.Gly99fs) rs1564088181
NM_000264.5(PTCH1):c.2970A>T (p.Ala990=) rs112405848
NM_000264.5(PTCH1):c.2971A>G (p.Ile991Val) rs1189382722
NM_000264.5(PTCH1):c.2972T>C (p.Ile991Thr)
NM_000264.5(PTCH1):c.2974G>T (p.Glu992Ter) rs1060502278
NM_000264.5(PTCH1):c.2975A>G (p.Glu992Gly)
NM_000264.5(PTCH1):c.2978A>G (p.Lys993Arg) rs2136661892
NM_000264.5(PTCH1):c.297C>G (p.Gly99=) rs772407797
NM_000264.5(PTCH1):c.297C>T (p.Gly99=) rs772407797
NM_000264.5(PTCH1):c.2980G>A (p.Val994Ile) rs1588540545
NM_000264.5(PTCH1):c.2982A>T (p.Val994=) rs1588540533
NM_000264.5(PTCH1):c.2984G>A (p.Arg995Lys) rs1839126241
NM_000264.5(PTCH1):c.2987_2988delinsAT (p.Thr996Asn) rs2136661772
NM_000264.5(PTCH1):c.2993G>A (p.Cys998Tyr) rs1839124943
NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)
NM_000264.5(PTCH1):c.3000C>G (p.Asn1000Lys) rs2136661651
NM_000264.5(PTCH1):c.3000C>T (p.Asn1000=) rs2136661651
NM_000264.5(PTCH1):c.3001T>C (p.Tyr1001His)
NM_000264.5(PTCH1):c.3002A>G (p.Tyr1001Cys) rs1839124423
NM_000264.5(PTCH1):c.3003T>A (p.Tyr1001Ter) rs1060502298
NM_000264.5(PTCH1):c.3003T>C (p.Tyr1001=) rs1060502298
NM_000264.5(PTCH1):c.3009C>T (p.Ser1003=)
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val) rs864622620
NM_000264.5(PTCH1):c.3010C>T (p.Leu1004=)
NM_000264.5(PTCH1):c.3011T>G (p.Leu1004Arg) rs1564019538
NM_000264.5(PTCH1):c.3014G>A (p.Gly1005Glu) rs1839122259
NM_000264.5(PTCH1):c.3014G>T (p.Gly1005Val)
NM_000264.5(PTCH1):c.3017T>C (p.Leu1006Pro) rs1839121774
NM_000264.5(PTCH1):c.3018G>A (p.Leu1006=) rs863224350
NM_000264.5(PTCH1):c.3018G>C (p.Leu1006=) rs863224350
NM_000264.5(PTCH1):c.3021_3022del (p.Ser1008fs)
NM_000264.5(PTCH1):c.3023G>A (p.Ser1008Asn) rs1286123273
NM_000264.5(PTCH1):c.3023G>T (p.Ser1008Ile) rs1286123273
NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter) rs747234651
NM_000264.5(PTCH1):c.3027_3030del (p.Ser1008_Tyr1009insTer) rs2136661234
NM_000264.5(PTCH1):c.3030del (p.Asn1011fs) rs2136661215
NM_000264.5(PTCH1):c.3032del (p.Asn1011fs)
NM_000264.5(PTCH1):c.3037dup (p.Tyr1013fs)
NM_000264.5(PTCH1):c.3038A>G (p.Tyr1013Cys)
NM_000264.5(PTCH1):c.3039C>A (p.Tyr1013Ter) rs779388970
NM_000264.5(PTCH1):c.303C>T (p.Phe101=) rs1425771551
NM_000264.5(PTCH1):c.3040C>G (p.Pro1014Ala) rs1588540255
NM_000264.5(PTCH1):c.3040C>T (p.Pro1014Ser) rs1588540255
NM_000264.5(PTCH1):c.3042C>T (p.Pro1014=) rs757821035
NM_000264.5(PTCH1):c.3042del (p.Phe1015fs) rs886039540
NM_000264.5(PTCH1):c.3045C>T (p.Phe1015=) rs1404182043
NM_000264.5(PTCH1):c.3046C>T (p.Leu1016Phe) rs374575067
NM_000264.5(PTCH1):c.3048C>G (p.Leu1016=) rs1165046037
NM_000264.5(PTCH1):c.3051_3053del (p.Phe1017_Trp1018delinsLeu)
NM_000264.5(PTCH1):c.3052T>G (p.Trp1018Gly)
NM_000264.5(PTCH1):c.3053G>A (p.Trp1018Ter) rs2136660954
NM_000264.5(PTCH1):c.3054G>A (p.Trp1018Ter) rs1839115028
NM_000264.5(PTCH1):c.3055G>T (p.Glu1019Ter) rs2136660921
NM_000264.5(PTCH1):c.3058C>T (p.Gln1020Ter) rs1839114207
NM_000264.5(PTCH1):c.3059_3062dup (p.Tyr1021Ter) rs1839113498
NM_000264.5(PTCH1):c.3059_3082del (p.Gln1020_Trp1027del) rs2136660602
NM_000264.5(PTCH1):c.3059_3088del (p.Gln1020_Leu1029del) rs1839107392
NM_000264.5(PTCH1):c.3063C>T (p.Tyr1021=) rs777191105
NM_000264.5(PTCH1):c.3064A>C (p.Ile1022Leu) rs1003711941
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val) rs1003711941
NM_000264.5(PTCH1):c.3067G>T (p.Gly1023Cys) rs752317944
NM_000264.5(PTCH1):c.3068G>C (p.Gly1023Ala) rs1588540060
NM_000264.5(PTCH1):c.3069C>A (p.Gly1023=) rs767289081
NM_000264.5(PTCH1):c.3069C>G (p.Gly1023=) rs767289081
NM_000264.5(PTCH1):c.3072C>T (p.Leu1024=) rs1588539992
NM_000264.5(PTCH1):c.3073C>T (p.Arg1025Cys) rs1839109856
NM_000264.5(PTCH1):c.3077A>G (p.His1026Arg) rs763031827
NM_000264.5(PTCH1):c.3078C>A (p.His1026Gln) rs2136660617
NM_000264.5(PTCH1):c.307G>C (p.Val103Leu)
NM_000264.5(PTCH1):c.3085C>T (p.Leu1029=) rs776739985
NM_000264.5(PTCH1):c.3087G>A (p.Leu1029=) rs2136660541
NM_000264.5(PTCH1):c.3088_3099delinsAACACCAA (p.Leu1030fs) rs1839104595
NM_000264.5(PTCH1):c.3088_3099delinsTTGGTGTT (p.Phe1031fs) rs1839104595
NM_000264.5(PTCH1):c.3096C>T (p.Ile1032=) rs1839105109
NM_000264.5(PTCH1):c.3103G>T (p.Val1035Leu) rs1839103824
NM_000264.5(PTCH1):c.3105G>A (p.Val1035=) rs2136660293
NM_000264.5(PTCH1):c.3105G>T (p.Val1035=)
NM_000264.5(PTCH1):c.3111C>G (p.Ala1037=) rs1009386754
NM_000264.5(PTCH1):c.3112T>C (p.Cys1038Arg) rs2136660230
NM_000264.5(PTCH1):c.3113G>A (p.Cys1038Tyr)
NM_000264.5(PTCH1):c.3114C>T (p.Cys1038=) rs1303636474
NM_000264.5(PTCH1):c.3116C>T (p.Thr1039Ile) rs2136660189
NM_000264.5(PTCH1):c.3123C>A (p.Leu1041=) rs1554691356
NM_000264.5(PTCH1):c.3123C>T (p.Leu1041=) rs1554691356
NM_000264.5(PTCH1):c.3125T>C (p.Val1042Ala) rs1839101189
NM_000264.5(PTCH1):c.3125T>G (p.Val1042Gly)
NM_000264.5(PTCH1):c.3125dup (p.Cys1043fs) rs1554691354
NM_000264.5(PTCH1):c.3126G>A (p.Val1042=)
NM_000264.5(PTCH1):c.3127T>G (p.Cys1043Gly)
NM_000264.5(PTCH1):c.3129dup (p.Ala1044fs)
NM_000264.5(PTCH1):c.312G>A (p.Val104=)
NM_000264.5(PTCH1):c.3130G>A (p.Ala1044Thr) rs138458710
NM_000264.5(PTCH1):c.3133G>C (p.Val1045Leu)
NM_000264.5(PTCH1):c.3136T>A (p.Phe1046Ile) rs1564019097
NM_000264.5(PTCH1):c.3137T>G (p.Phe1046Cys) rs1839099591
NM_000264.5(PTCH1):c.3138C>A (p.Phe1046Leu)
NM_000264.5(PTCH1):c.3139C>A (p.Leu1047Ile) rs1053698119
NM_000264.5(PTCH1):c.3139_3142del (p.Phe1046_Leu1047insTer) rs1131690980
NM_000264.5(PTCH1):c.3139del (p.Leu1047fs) rs2136659959
NM_000264.5(PTCH1):c.3147C>G (p.Asn1049Lys) rs1588539644
NM_000264.5(PTCH1):c.3150del (p.Trp1051fs) rs1588539623
NM_000264.5(PTCH1):c.3151T>G (p.Trp1051Gly) rs1564019039
NM_000264.5(PTCH1):c.3151del (p.Trp1051fs)
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter) rs1060502301
NM_000264.5(PTCH1):c.3153G>A (p.Trp1051Ter)
NM_000264.5(PTCH1):c.315C>G (p.Gly105=) rs1060504542
NM_000264.5(PTCH1):c.3160G>A (p.Gly1054Arg) rs2136659721
NM_000264.5(PTCH1):c.3160_3161insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (p.Gly1054delinsAlaLeuSerSerCysTer)
NM_000264.5(PTCH1):c.3161G>A (p.Gly1054Glu)
NM_000264.5(PTCH1):c.3162G>A (p.Gly1054=) rs1588539563
NM_000264.5(PTCH1):c.3162G>T (p.Gly1054=) rs1588539563
NM_000264.5(PTCH1):c.3168+11dup
NM_000264.5(PTCH1):c.3168+12A>T
NM_000264.5(PTCH1):c.3168+13T>C
NM_000264.5(PTCH1):c.3168+19G>A
NM_000264.5(PTCH1):c.3168+1G>T rs2136659660
NM_000264.5(PTCH1):c.3168+20C>T
NM_000264.5(PTCH1):c.3168+2T>C rs786204056
NM_000264.5(PTCH1):c.3168+5G>A rs1588539525
NM_000264.5(PTCH1):c.3168+6T>A rs1839094345
NM_000264.5(PTCH1):c.3169-10C>A
NM_000264.5(PTCH1):c.3169-12G>T
NM_000264.5(PTCH1):c.3169-14G>A rs2136650773
NM_000264.5(PTCH1):c.3169-15T>C
NM_000264.5(PTCH1):c.3169-16G>A
NM_000264.5(PTCH1):c.3169-17T>C
NM_000264.5(PTCH1):c.3169-18C>G
NM_000264.5(PTCH1):c.3169-18C>T
NM_000264.5(PTCH1):c.3169-19A>G
NM_000264.5(PTCH1):c.3169-1G>A rs1060502285
NM_000264.5(PTCH1):c.3169-20C>A rs780801234
NM_000264.5(PTCH1):c.3169-4C>G
NM_000264.5(PTCH1):c.3169-6C>T rs1588536035
NM_000264.5(PTCH1):c.3169-7G>A rs1588536043
NM_000264.5(PTCH1):c.3169-7G>C rs1588536043
NM_000264.5(PTCH1):c.3169G>A (p.Val1057Met) rs1838934517
NM_000264.5(PTCH1):c.3171G>T (p.Val1057=) rs2136650471
NM_000264.5(PTCH1):c.3173T>C (p.Met1058Thr)
NM_000264.5(PTCH1):c.317T>G (p.Leu106Arg) rs1131690998
NM_000264.5(PTCH1):c.3180G>T (p.Leu1060=) rs757268536
NM_000264.5(PTCH1):c.3181G>A (p.Ala1061Thr) rs767617256
NM_000264.5(PTCH1):c.3182C>T (p.Ala1061Val) rs1409913416
NM_000264.5(PTCH1):c.3184_3185del (p.Leu1062fs) rs2136650202
NM_000264.5(PTCH1):c.318_334del (p.Leu107fs) rs2118876177
NM_000264.5(PTCH1):c.3190A>G (p.Thr1064Ala) rs1838931276
NM_000264.5(PTCH1):c.3195C>G (p.Val1065=) rs370936145
NM_000264.5(PTCH1):c.3196G>T (p.Glu1066Ter) rs1838929775
NM_000264.5(PTCH1):c.3199C>T (p.Leu1067=) rs2136649847
NM_000264.5(PTCH1):c.319C>T (p.Leu107Phe) rs2118876683
NM_000264.5(PTCH1):c.3201G>A (p.Leu1067=)
NM_000264.5(PTCH1):c.3201del (p.Phe1068fs)
NM_000264.5(PTCH1):c.3204C>A (p.Phe1068Leu) rs762419846
NM_000264.5(PTCH1):c.3204C>G (p.Phe1068Leu) rs762419846
NM_000264.5(PTCH1):c.3204C>T (p.Phe1068=) rs762419846
NM_000264.5(PTCH1):c.3205G>A (p.Gly1069Ser) rs2136649648
NM_000264.5(PTCH1):c.3206G>T (p.Gly1069Val) rs1588535858
NM_000264.5(PTCH1):c.3208A>G (p.Met1070Val) rs768302786
NM_000264.5(PTCH1):c.3209T>G (p.Met1070Arg) rs2136649542
NM_000264.5(PTCH1):c.3210G>A (p.Met1070Ile)
NM_000264.5(PTCH1):c.3216C>G (p.Gly1072=) rs2136649380
NM_000264.5(PTCH1):c.321C>T (p.Leu107=)
NM_000264.5(PTCH1):c.3221T>C (p.Ile1074Thr)
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg) rs1838926237
NM_000264.5(PTCH1):c.3223G>T (p.Gly1075Ter)
NM_000264.5(PTCH1):c.3224G>T (p.Gly1075Val)
NM_000264.5(PTCH1):c.3225A>T (p.Gly1075=) rs757101018
NM_000264.5(PTCH1):c.3231G>A (p.Lys1077=)
NM_000264.5(PTCH1):c.3232C>T (p.Leu1078Phe)
NM_000264.5(PTCH1):c.3233T>C (p.Leu1078Pro) rs1554691033
NM_000264.5(PTCH1):c.3237T>A (p.Ser1079Arg) rs1838925156
NM_000264.5(PTCH1):c.3237T>C (p.Ser1079=) rs1838925156
NM_000264.5(PTCH1):c.323T>C (p.Ile108Thr) rs2118876529
NM_000264.5(PTCH1):c.3240C>A (p.Ala1080=)
NM_000264.5(PTCH1):c.3241_3245del (p.Val1081fs)
NM_000264.5(PTCH1):c.3241_3245dup (p.Val1083fs) rs2136648673
NM_000264.5(PTCH1):c.3243G>A (p.Val1081=) rs763288802
NM_000264.5(PTCH1):c.3245C>A (p.Pro1082His) rs2136648648
NM_000264.5(PTCH1):c.3245C>G (p.Pro1082Arg)
NM_000264.5(PTCH1):c.3249G>T (p.Val1083=)
NM_000264.5(PTCH1):c.324_325del (p.Phe109fs) rs2118876450
NM_000264.5(PTCH1):c.3250G>T (p.Val1084Phe) rs1838922991
NM_000264.5(PTCH1):c.3252C>G (p.Val1084=) rs201094264
NM_000264.5(PTCH1):c.3255C>G (p.Ile1085Met)
NM_000264.5(PTCH1):c.3255C>T (p.Ile1085=)
NM_000264.5(PTCH1):c.3256C>A (p.Leu1086Met)
NM_000264.5(PTCH1):c.3256C>G (p.Leu1086Val) rs777291938
NM_000264.5(PTCH1):c.3256C>T (p.Leu1086=)
NM_000264.5(PTCH1):c.3259A>G (p.Ile1087Val) rs2136648402
NM_000264.5(PTCH1):c.325T>C (p.Phe109Leu) rs1843655328
NM_000264.5(PTCH1):c.3261C>A (p.Ile1087=) rs768215021
NM_000264.5(PTCH1):c.3263C>T (p.Ala1088Val) rs1838920838
NM_000264.5(PTCH1):c.3264T>C (p.Ala1088=) rs1361137530
NM_000264.5(PTCH1):c.3268G>T (p.Val1090Phe)
NM_000264.5(PTCH1):c.326T>C (p.Phe109Ser) rs1587693269
NM_000264.5(PTCH1):c.326T>G (p.Phe109Cys) rs1587693269
NM_000264.5(PTCH1):c.3270T>C (p.Val1090=)
NM_000264.5(PTCH1):c.3273del (p.Gly1091_Ile1092insTer)
NM_000264.5(PTCH1):c.3274A>G (p.Ile1092Val) rs2136647902
NM_000264.5(PTCH1):c.3275T>C (p.Ile1092Thr)
NM_000264.5(PTCH1):c.3276A>G (p.Ile1092Met) rs1227312736
NM_000264.5(PTCH1):c.3277G>A (p.Gly1093Arg) rs2136647822
NM_000264.5(PTCH1):c.327T>C (p.Phe109=) rs2118876372
NM_000264.5(PTCH1):c.3280G>A (p.Val1094Met) rs1588535447
NM_000264.5(PTCH1):c.3281_3282dup (p.Glu1095fs) rs1588535437
NM_000264.5(PTCH1):c.3283G>C (p.Glu1095Gln) rs1588535427
NM_000264.5(PTCH1):c.3283G>T (p.Glu1095Ter)
NM_000264.5(PTCH1):c.3287dup (p.Thr1097fs) rs1588535416
NM_000264.5(PTCH1):c.3288C>G (p.Phe1096Leu) rs745563970
NM_000264.5(PTCH1):c.3289A>G (p.Thr1097Ala)
NM_000264.5(PTCH1):c.328G>C (p.Gly110Arg) rs1843654942
NM_000264.5(PTCH1):c.3300T>G (p.Val1100=)
NM_000264.5(PTCH1):c.3304T>C (p.Leu1102=)
NM_000264.5(PTCH1):c.3304T>G (p.Leu1102Val) rs1554690984
NM_000264.5(PTCH1):c.3306+11C>A rs1375317234
NM_000264.5(PTCH1):c.3306+11C>T
NM_000264.5(PTCH1):c.3306+12A>G
NM_000264.5(PTCH1):c.3306+15T>C
NM_000264.5(PTCH1):c.3306+16G>A rs780151010
NM_000264.5(PTCH1):c.3306+20C>G
NM_000264.5(PTCH1):c.3306+20C>T
NM_000264.5(PTCH1):c.3306+2T>C
NM_000264.5(PTCH1):c.3306+5G>A rs587780701
NM_000264.5(PTCH1):c.3306+6G>A rs777678813
NM_000264.5(PTCH1):c.3306+6G>T rs777678813
NM_000264.5(PTCH1):c.3306+7G>A rs1382563617
NM_000264.5(PTCH1):c.3306G>A (p.Leu1102=) rs1564017035
NM_000264.5(PTCH1):c.3307-115_3339del rs1838664702
NM_000264.5(PTCH1):c.3307-12C>T
NM_000264.5(PTCH1):c.3307-13C>T
NM_000264.5(PTCH1):c.3307-17A>G
NM_000264.5(PTCH1):c.3307-18A>G
NM_000264.5(PTCH1):c.3307-1G>A rs2136632449
NM_000264.5(PTCH1):c.3307-3C>T
NM_000264.5(PTCH1):c.3307-4A>C rs1554690494
NM_000264.5(PTCH1):c.3307-6G>A
NM_000264.5(PTCH1):c.3307-6G>T
NM_000264.5(PTCH1):c.3307-7T>C rs878853855
NM_000264.5(PTCH1):c.3307-8T>C
NM_000264.5(PTCH1):c.3307G>T (p.Ala1103Ser) rs1838668785
NM_000264.5(PTCH1):c.330G>A (p.Gly110=)
NM_000264.5(PTCH1):c.3312T>A (p.Phe1104Leu) rs1554690489
NM_000264.5(PTCH1):c.3312T>C (p.Phe1104=)
NM_000264.5(PTCH1):c.3318G>A (p.Thr1106=) rs942699337
NM_000264.5(PTCH1):c.331G>A (p.Ala111Thr) rs777897973
NM_000264.5(PTCH1):c.331del (p.Ala111fs)
NM_000264.5(PTCH1):c.3324C>T (p.Ile1108=) rs748117539
NM_000264.5(PTCH1):c.3328G>A (p.Asp1110Asn) rs911494100
NM_000264.5(PTCH1):c.3328G>C (p.Asp1110His) rs911494100
NM_000264.5(PTCH1):c.3328G>T (p.Asp1110Tyr) rs911494100
NM_000264.5(PTCH1):c.332C>G (p.Ala111Gly)
NM_000264.5(PTCH1):c.3332A>G (p.Lys1111Arg) rs2136632174
NM_000264.5(PTCH1):c.3333del (p.Asn1112fs) rs2136632164
NM_000264.5(PTCH1):c.3336C>A (p.Asn1112Lys)
NM_000264.5(PTCH1):c.3336C>T (p.Asn1112=)
NM_000264.5(PTCH1):c.3338G>T (p.Arg1113Leu)
NM_000264.5(PTCH1):c.333C>T (p.Ala111=) rs863224351
NM_000264.5(PTCH1):c.3340A>C (p.Arg1114=) rs587776689
NM_000264.5(PTCH1):c.3342G>A (p.Arg1114=)
NM_000264.5(PTCH1):c.3344C>T (p.Ala1115Val) rs779192138
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met) rs201605273
NM_000264.5(PTCH1):c.3346G>C (p.Val1116Leu)
NM_000264.5(PTCH1):c.3346G>T (p.Val1116Leu)
NM_000264.5(PTCH1):c.3349C>G (p.Leu1117Val)
NM_000264.5(PTCH1):c.3352G>T (p.Ala1118Ser)
NM_000264.5(PTCH1):c.3354C>G (p.Ala1118=) rs1554690459
NM_000264.5(PTCH1):c.3357G>A (p.Leu1119=) rs1838662525
NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys) rs1838662287
NM_000264.5(PTCH1):c.3360G>A (p.Glu1120=) rs1554690458
NM_000264.5(PTCH1):c.3362A>G (p.His1121Arg) rs1838661805
NM_000264.5(PTCH1):c.3362A>T (p.His1121Leu) rs1838661805
NM_000264.5(PTCH1):c.3363C>T (p.His1121=)
NM_000264.5(PTCH1):c.3363del (p.His1121fs) rs1838661583
NM_000264.5(PTCH1):c.3364A>G (p.Met1122Val) rs1838661361
NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs) rs1060502273
NM_000264.5(PTCH1):c.3365T>A (p.Met1122Lys) rs929802114
NM_000264.5(PTCH1):c.3365T>C (p.Met1122Thr)
NM_000264.5(PTCH1):c.3369T>C (p.Phe1123=) rs2136631715
NM_000264.5(PTCH1):c.336C>A (p.Phe112Leu)
NM_000264.5(PTCH1):c.3372del (p.Val1126fs)
NM_000264.5(PTCH1):c.3373C>T (p.Pro1125Ser)
NM_000264.5(PTCH1):c.3375C>A (p.Pro1125=) rs369760318
NM_000264.5(PTCH1):c.3376G>T (p.Val1126Phe) rs147025073
NM_000264.5(PTCH1):c.3378C>T (p.Val1126=)
NM_000264.5(PTCH1):c.3379C>T (p.Leu1127=) rs1032072492
NM_000264.5(PTCH1):c.3384del (p.Asp1128fs) rs1838658874
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg) rs1588528637
NM_000264.5(PTCH1):c.3392T>C (p.Val1131Ala)
NM_000264.5(PTCH1):c.3393G>A (p.Val1131=) rs1267662604
NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr) rs878853856
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro) rs878853856
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe) rs1588528503
NM_000264.5(PTCH1):c.3397A>C (p.Thr1133Pro)
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala) rs1131690996
NM_000264.5(PTCH1):c.339G>C (p.Ala113=) rs756224406
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val) rs1838656000
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro) rs1131690989
NM_000264.5(PTCH1):c.3405G>A (p.Leu1135=)
NM_000264.5(PTCH1):c.3406G>A (p.Gly1136Arg) rs1838655420
NM_000264.5(PTCH1):c.3408A>G (p.Gly1136=) rs769601779
NM_000264.5(PTCH1):c.340G>A (p.Val114Met) rs1843653470
NM_000264.5(PTCH1):c.340G>T (p.Val114Leu) rs1843653470
NM_000264.5(PTCH1):c.3412C>G (p.Leu1138Val) rs1838654825
NM_000264.5(PTCH1):c.3412C>T (p.Leu1138=) rs1838654825
NM_000264.5(PTCH1):c.3413T>C (p.Leu1138Pro)
NM_000264.5(PTCH1):c.3420G>A (p.Leu1140=) rs748023135
NM_000264.5(PTCH1):c.3421del (p.Ala1141fs) rs2136631061
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=) rs745948150
NM_000264.5(PTCH1):c.3426A>T (p.Gly1142=)
NM_000264.5(PTCH1):c.3428_3429del (p.Gly1142_Ser1143insTer) rs1554690411
NM_000264.5(PTCH1):c.3429T>A (p.Ser1143=) rs778900289
NM_000264.5(PTCH1):c.3432G>A (p.Glu1144=) rs2136630962
NM_000264.5(PTCH1):c.3441_3444del (p.Phe1147fs) rs2136630846
NM_000264.5(PTCH1):c.3444T>C (p.Ile1148=) rs1439411173
NM_000264.5(PTCH1):c.3444T>G (p.Ile1148Met) rs1439411173
NM_000264.5(PTCH1):c.3446T>A (p.Val1149Asp)
NM_000264.5(PTCH1):c.3448A>G (p.Arg1150Gly)
NM_000264.5(PTCH1):c.3449+11G>C
NM_000264.5(PTCH1):c.3449+13G>T
NM_000264.5(PTCH1):c.3449+16C>T rs1838648315
NM_000264.5(PTCH1):c.3449+17A>C
NM_000264.5(PTCH1):c.3449+1G>A rs863224442
NM_000264.5(PTCH1):c.3449+3A>G rs201942643
NM_000264.5(PTCH1):c.3449+6C>T rs2136630772
NM_000264.5(PTCH1):c.3449+8G>A rs2136630748
NM_000264.5(PTCH1):c.3449+9G>A rs1554690376
NM_000264.5(PTCH1):c.3449G>A (p.Arg1150Lys)
NM_000264.5(PTCH1):c.344G>A (p.Gly115Glu) rs544052043
NM_000264.5(PTCH1):c.344G>T (p.Gly115Val) rs544052043
NM_000264.5(PTCH1):c.3450-13C>G rs2136608603
NM_000264.5(PTCH1):c.3450-14T>A
NM_000264.5(PTCH1):c.3450-16C>T
NM_000264.5(PTCH1):c.3450-17T>G
NM_000264.5(PTCH1):c.3450-1G>A rs1403732379
NM_000264.5(PTCH1):c.3450-1G>C rs1403732379
NM_000264.5(PTCH1):c.3450-20G>C
NM_000264.5(PTCH1):c.3450-2A>C rs863224443
NM_000264.5(PTCH1):c.3450-2A>G rs863224443
NM_000264.5(PTCH1):c.3450-2_3483del rs1588519463
NM_000264.5(PTCH1):c.3450-5C>T rs2136608556
NM_000264.5(PTCH1):c.3450-8T>C rs1045599342
NM_000264.5(PTCH1):c.3456C>T (p.Phe1152=) rs2136608496
NM_000264.5(PTCH1):c.3460G>A (p.Ala1154Thr) rs878853857
NM_000264.5(PTCH1):c.3460G>C (p.Ala1154Pro) rs878853857
NM_000264.5(PTCH1):c.3460del (p.Ala1154fs) rs1060502264
NM_000264.5(PTCH1):c.3461C>G (p.Ala1154Gly) rs1838315753
NM_000264.5(PTCH1):c.3462_3464del (p.Val1155del)
NM_000264.5(PTCH1):c.3463G>A (p.Val1155Met) rs1588519562
NM_000264.5(PTCH1):c.3463G>C (p.Val1155Leu)
NM_000264.5(PTCH1):c.3463G>T (p.Val1155Leu) rs1588519562
NM_000264.5(PTCH1):c.3466C>G (p.Leu1156Val) rs1838315273
NM_000264.5(PTCH1):c.3467T>G (p.Leu1156Arg) rs1838315058
NM_000264.5(PTCH1):c.3471G>A (p.Ala1157=) rs950019214
NM_000264.5(PTCH1):c.3472A>T (p.Ile1158Phe) rs368636457
NM_000264.5(PTCH1):c.3476T>C (p.Leu1159Pro) rs1588519508
NM_000264.5(PTCH1):c.3478_3486del (p.Thr1160_Leu1162del) rs1838312038
NM_000264.5(PTCH1):c.3478_3486dup (p.Thr1160_Leu1162dup) rs1838312038
NM_000264.5(PTCH1):c.347T>A (p.Leu116Ter) rs1843652409
NM_000264.5(PTCH1):c.347T>G (p.Leu116Ter) rs1843652409
NM_000264.5(PTCH1):c.3481A>G (p.Ile1161Val) rs202102540
NM_000264.5(PTCH1):c.3483C>A (p.Ile1161=) rs761421461
NM_000264.5(PTCH1):c.3483C>T (p.Ile1161=)
NM_000264.5(PTCH1):c.3484C>T (p.Leu1162Phe) rs2136608105
NM_000264.5(PTCH1):c.3486C>T (p.Leu1162=) rs1554689696
NM_000264.5(PTCH1):c.3487G>C (p.Gly1163Arg) rs113663584
NM_000264.5(PTCH1):c.3488G>T (p.Gly1163Val) rs864622120
NM_000264.5(PTCH1):c.3488del (p.Gly1163fs) rs1564009755
NM_000264.5(PTCH1):c.3489C>T (p.Gly1163=) rs2136607957
NM_000264.5(PTCH1):c.3497A>G (p.Asn1166Ser) rs1271099813
NM_000264.5(PTCH1):c.3497_3498del (p.Asn1166fs) rs2136607887
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg) rs1131690985
NM_000264.5(PTCH1):c.349A>T (p.Lys117Ter) rs2118875526
NM_000264.5(PTCH1):c.3501G>T (p.Gly1167=)
NM_000264.5(PTCH1):c.3504G>A (p.Leu1168=) rs1838309835
NM_000264.5(PTCH1):c.3509T>G (p.Leu1170Trp)
NM_000264.5(PTCH1):c.350A>G (p.Lys117Arg) rs1234085004
NM_000264.5(PTCH1):c.3511C>T (p.Leu1171Phe) rs1838309603
NM_000264.5(PTCH1):c.3512T>G (p.Leu1171Arg)
NM_000264.5(PTCH1):c.3513T>C (p.Leu1171=) rs2136607744
NM_000264.5(PTCH1):c.3514_3522del (p.Pro1172_Leu1174del) rs1838308465
NM_000264.5(PTCH1):c.3516del (p.Val1173fs)
NM_000264.5(PTCH1):c.3517G>A (p.Val1173Met) rs1588519372
NM_000264.5(PTCH1):c.3518T>C (p.Val1173Ala)
NM_000264.5(PTCH1):c.351AGC[1] (p.Ala119del)
NM_000264.5(PTCH1):c.351del (p.Ala118fs) rs2118875429
NM_000264.5(PTCH1):c.351dup (p.Ala118fs) rs2118875429
NM_000264.5(PTCH1):c.3525G>A (p.Leu1175=)
NM_000264.5(PTCH1):c.3525_3529del (p.Leu1175fs) rs1838307047
NM_000264.5(PTCH1):c.3527C>G (p.Ser1176Cys) rs864622160
NM_000264.5(PTCH1):c.352G>C (p.Ala118Pro)
NM_000264.5(PTCH1):c.3530del (p.Phe1177fs) rs2136607614
NM_000264.5(PTCH1):c.3531_3534del (p.Phe1177fs) rs1838305772
NM_000264.5(PTCH1):c.3538C>G (p.Pro1180Ala) rs1314555601
NM_000264.5(PTCH1):c.3539C>T (p.Pro1180Leu)
NM_000264.5(PTCH1):c.3540A>C (p.Pro1180=) rs930364103
NM_000264.5(PTCH1):c.3540_3543delinsTCC (p.Tyr1181fs) rs1554689667
NM_000264.5(PTCH1):c.3544C>G (p.Pro1182Ala) rs1259037941
NM_000264.5(PTCH1):c.3544C>T (p.Pro1182Ser) rs1259037941
NM_000264.5(PTCH1):c.3549+10G>C rs587780703
NM_000264.5(PTCH1):c.3549+11A>G
NM_000264.5(PTCH1):c.3549+15G>A rs1444040515
NM_000264.5(PTCH1):c.3549+17G>T
NM_000264.5(PTCH1):c.3549+18G>A
NM_000264.5(PTCH1):c.3549+2T>G rs1838303339
NM_000264.5(PTCH1):c.3549+4A>T
NM_000264.5(PTCH1):c.3549+5G>T rs565899674
NM_000264.5(PTCH1):c.354_363del (p.Ala119fs) rs2118874752
NM_000264.5(PTCH1):c.3550-10C>A rs2136603294
NM_000264.5(PTCH1):c.3550-11C>G
NM_000264.5(PTCH1):c.3550-11C>T
NM_000264.5(PTCH1):c.3550-15A>G rs1337486945
NM_000264.5(PTCH1):c.3550-19A>G rs2136603435
NM_000264.5(PTCH1):c.3550-20C>A rs2136603455
NM_000264.5(PTCH1):c.3550-2A>C rs1838244368
NM_000264.5(PTCH1):c.3550-4A>G rs1838244885
NM_000264.5(PTCH1):c.3550-4dup
NM_000264.5(PTCH1):c.3550-9C>G rs1410226185
NM_000264.5(PTCH1):c.3550-9C>T rs1410226185
NM_000264.5(PTCH1):c.3550G>A (p.Val1184Met)
NM_000264.5(PTCH1):c.3550del rs1838244110
NM_000264.5(PTCH1):c.3552G>A (p.Val1184=) rs2136603020
NM_000264.5(PTCH1):c.3552G>T (p.Val1184=) rs2136603020
NM_000264.5(PTCH1):c.3555T>C (p.Ser1185=) rs1398908173
NM_000264.5(PTCH1):c.3555T>G (p.Ser1185=) rs1398908173
NM_000264.5(PTCH1):c.3556C>T (p.Pro1186Ser)
NM_000264.5(PTCH1):c.3557C>T (p.Pro1186Leu) rs1838242467
NM_000264.5(PTCH1):c.3559G>A (p.Ala1187Thr) rs1838241713
NM_000264.5(PTCH1):c.355G>A (p.Ala119Thr)
NM_000264.5(PTCH1):c.3562A>G (p.Asn1188Asp) rs1319757275
NM_000264.5(PTCH1):c.3564C>A (p.Asn1188Lys) rs864622621
NM_000264.5(PTCH1):c.3565G>C (p.Gly1189Arg) rs767535853
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys) rs767535853
NM_000264.5(PTCH1):c.3575G>T (p.Arg1192Leu) rs762040036
NM_000264.5(PTCH1):c.357G>T (p.Ala119=)
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg) rs1838236724
NM_000264.5(PTCH1):c.3582C>G (p.Pro1194=)
NM_000264.5(PTCH1):c.3582C>T (p.Pro1194=)
NM_000264.5(PTCH1):c.3584C>T (p.Thr1195Ile) rs1588517836
NM_000264.5(PTCH1):c.3586C>T (p.Pro1196Ser) rs1588517811
NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=)
NM_000264.5(PTCH1):c.358A>C (p.Asn120His)
NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys) rs1588517764
NM_000264.5(PTCH1):c.3593C>G (p.Pro1198Arg) rs1564008924
NM_000264.5(PTCH1):c.3593C>T (p.Pro1198Leu)
NM_000264.5(PTCH1):c.3595G>A (p.Glu1199Lys)
NM_000264.5(PTCH1):c.3597G>A (p.Glu1199=) rs2136601860
NM_000264.5(PTCH1):c.3600A>C (p.Pro1200=) rs1588517717
NM_000264.5(PTCH1):c.3601C>T (p.Pro1201Ser) rs1838233287
NM_000264.5(PTCH1):c.3602C>A (p.Pro1201His) rs1838233041
NM_000264.5(PTCH1):c.3603C>G (p.Pro1201=)
NM_000264.5(PTCH1):c.3603C>T (p.Pro1201=)
NM_000264.5(PTCH1):c.3604C>T (p.Pro1202Ser) rs1384935549
NM_000264.5(PTCH1):c.3605C>A (p.Pro1202His)
NM_000264.5(PTCH1):c.3605_3606insG (p.Ser1203fs) rs2136601667
NM_000264.5(PTCH1):c.3606C>A (p.Pro1202=) rs138240178
NM_000264.5(PTCH1):c.3606C>G (p.Pro1202=) rs138240178
NM_000264.5(PTCH1):c.3606dup (p.Ser1203fs)
NM_000264.5(PTCH1):c.3608dup (p.Ser1203fs)
NM_000264.5(PTCH1):c.3609C>T (p.Ser1203=) rs200843188
NM_000264.5(PTCH1):c.360C>A (p.Asn120Lys) rs1327411160
NM_000264.5(PTCH1):c.360C>G (p.Asn120Lys) rs1327411160
NM_000264.5(PTCH1):c.360C>T (p.Asn120=)
NM_000264.5(PTCH1):c.3612G>A (p.Val1204=) rs2136601481
NM_000264.5(PTCH1):c.3614T>A (p.Val1205Asp) rs775882469
NM_000264.5(PTCH1):c.3614T>G (p.Val1205Gly)
NM_000264.5(PTCH1):c.3615C>T (p.Val1205=)
NM_000264.5(PTCH1):c.3618C>T (p.Arg1206=)
NM_000264.5(PTCH1):c.361C>G (p.Leu121Val) rs776424978
NM_000264.5(PTCH1):c.361C>T (p.Leu121Phe) rs776424978
NM_000264.5(PTCH1):c.3622G>T (p.Ala1208Ser) rs945517672
NM_000264.5(PTCH1):c.3623C>A (p.Ala1208Asp) rs914090288
NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3625A>G (p.Met1209Val)
NM_000264.5(PTCH1):c.3627G>A (p.Met1209Ile) rs1838227370
NM_000264.5(PTCH1):c.3628C>T (p.Pro1210Ser)
NM_000264.5(PTCH1):c.3630G>A (p.Pro1210=) rs926583525
NM_000264.5(PTCH1):c.3630G>T (p.Pro1210=) rs926583525
NM_000264.5(PTCH1):c.3633C>T (p.Pro1211=) rs56007343
NM_000264.5(PTCH1):c.3633del (p.Gly1212fs) rs2136600953
NM_000264.5(PTCH1):c.363C>G (p.Leu121=)
NM_000264.5(PTCH1):c.363C>T (p.Leu121=)
NM_000264.5(PTCH1):c.3640A>G (p.Thr1214Ala) rs1564008713
NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn) rs1554689404
NM_000264.5(PTCH1):c.3647del (p.Ser1216fs)
NM_000264.5(PTCH1):c.3648C>A (p.Ser1216Arg) rs377608291
NM_000264.5(PTCH1):c.3649G>T (p.Gly1217Trp) rs768986314
NM_000264.5(PTCH1):c.364G>A (p.Glu122Lys) rs374150356
NM_000264.5(PTCH1):c.3650G>A (p.Gly1217Glu)
NM_000264.5(PTCH1):c.3650G>C (p.Gly1217Ala)
NM_000264.5(PTCH1):c.3651G>A (p.Gly1217=)
NM_000264.5(PTCH1):c.3651G>C (p.Gly1217=) rs1432605045
NM_000264.5(PTCH1):c.3652T>G (p.Ser1218Ala) rs1838222745
NM_000264.5(PTCH1):c.3653C>G (p.Ser1218Cys) rs1167693193
NM_000264.5(PTCH1):c.3654T>C (p.Ser1218=) rs2136600344
NM_000264.5(PTCH1):c.3656A>T (p.Asp1219Val) rs2136600284
NM_000264.5(PTCH1):c.3659C>G (p.Ser1220Cys) rs1375226181
NM_000264.5(PTCH1):c.3659C>T (p.Ser1220Phe) rs1375226181
NM_000264.5(PTCH1):c.365A>C (p.Glu122Ala) rs1843650243
NM_000264.5(PTCH1):c.3660C>T (p.Ser1220=) rs1171930911
NM_000264.5(PTCH1):c.3661T>A (p.Ser1221Thr)
NM_000264.5(PTCH1):c.3661T>C (p.Ser1221Pro)
NM_000264.5(PTCH1):c.3662C>T (p.Ser1221Phe) rs1838221565
NM_000264.5(PTCH1):c.3663C>G (p.Ser1221=) rs369771223
NM_000264.5(PTCH1):c.3663C>T (p.Ser1221=) rs369771223
NM_000264.5(PTCH1):c.3666C>T (p.Asp1222=) rs777377921
NM_000264.5(PTCH1):c.3667T>G (p.Ser1223Ala)
NM_000264.5(PTCH1):c.366G>A (p.Glu122=) rs1479871006
NM_000264.5(PTCH1):c.366G>C (p.Glu122Asp) rs1479871006
NM_000264.5(PTCH1):c.3670G>C (p.Glu1224Gln)
NM_000264.5(PTCH1):c.3672G>A (p.Glu1224=)
NM_000264.5(PTCH1):c.3672G>C (p.Glu1224Asp)
NM_000264.5(PTCH1):c.3674A>G (p.Tyr1225Cys) rs2136599880
NM_000264.5(PTCH1):c.3675T>A (p.Tyr1225Ter) rs1588517196
NM_000264.5(PTCH1):c.3675T>C (p.Tyr1225=) rs1588517196
NM_000264.5(PTCH1):c.3678T>C (p.Ser1226=) rs1588517173
NM_000264.5(PTCH1):c.3681C>A (p.Ser1227=)
NM_000264.5(PTCH1):c.3683A>G (p.Gln1228Arg) rs1838218958
NM_000264.5(PTCH1):c.3684G>A (p.Gln1228=) rs2136599643
NM_000264.5(PTCH1):c.3685A>T (p.Thr1229Ser) rs1838218744
NM_000264.5(PTCH1):c.368C>T (p.Thr123Ile) rs1843649762
NM_000264.5(PTCH1):c.3690A>G (p.Thr1230=)
NM_000264.5(PTCH1):c.3690A>T (p.Thr1230=)
NM_000264.5(PTCH1):c.3692_3693inv (p.Val1231Ala)
NM_000264.5(PTCH1):c.3693G>C (p.Val1231=)
NM_000264.5(PTCH1):c.3698G>A (p.Gly1233Asp)
NM_000264.5(PTCH1):c.3699C>T (p.Gly1233=)
NM_000264.5(PTCH1):c.369C>G (p.Thr123=)
NM_000264.5(PTCH1):c.3701T>C (p.Leu1234Pro) rs1838217335
NM_000264.5(PTCH1):c.3702C>T (p.Leu1234=)
NM_000264.5(PTCH1):c.3705C>A (p.Ser1235Arg) rs1051927200
NM_000264.5(PTCH1):c.3711G>A (p.Glu1237=)
NM_000264.5(PTCH1):c.3716G>C (p.Arg1239Pro) rs758728491
NM_000264.5(PTCH1):c.3717G>A (p.Arg1239=) rs1299281832
NM_000264.5(PTCH1):c.3718C>T (p.His1240Tyr) rs2136598509
NM_000264.5(PTCH1):c.3719A>C (p.His1240Pro)
NM_000264.5(PTCH1):c.3720C>T (p.His1240=)
NM_000264.5(PTCH1):c.3721_3765del (p.Tyr1241_Ile1255del) rs760239449
NM_000264.5(PTCH1):c.3725A>C (p.Glu1242Ala)
NM_000264.5(PTCH1):c.3726G>A (p.Glu1242=)
NM_000264.5(PTCH1):c.3726G>C (p.Glu1242Asp) rs1838214724
NM_000264.5(PTCH1):c.3728C>T (p.Ala1243Val)
NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys) rs763779667
NM_000264.5(PTCH1):c.3731_3749del (p.Gln1244fs) rs2136597743
NM_000264.5(PTCH1):c.3732G>A (p.Gln1244=) rs2136598143
NM_000264.5(PTCH1):c.3732_3755dup (p.Ala1251_His1252insGlnGlnGlyAlaGlyGlyProAla)
NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu) rs1838213882
NM_000264.5(PTCH1):c.373G>A (p.Val125Met) rs760253622
NM_000264.5(PTCH1):c.3740C>G (p.Ala1247Gly) rs1588516924
NM_000264.5(PTCH1):c.3740C>T (p.Ala1247Val) rs1588516924
NM_000264.5(PTCH1):c.3741G>C (p.Ala1247=)
NM_000264.5(PTCH1):c.3742G>A (p.Gly1248Arg) rs2136597903
NM_000264.5(PTCH1):c.3743G>C (p.Gly1248Ala) rs375857496
NM_000264.5(PTCH1):c.3743del (p.Gly1248fs)
NM_000264.5(PTCH1):c.3744A>G (p.Gly1248=)
NM_000264.5(PTCH1):c.3745G>A (p.Gly1249Ser)
NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg) rs769446796
NM_000264.5(PTCH1):c.3747C>T (p.Gly1249=) rs1588516878
NM_000264.5(PTCH1):c.3749C>G (p.Pro1250Arg) rs1838211042
NM_000264.5(PTCH1):c.3754C>G (p.His1252Asp) rs780990429
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)
NM_000264.5(PTCH1):c.3755A>C (p.His1252Pro) rs1838210172
NM_000264.5(PTCH1):c.3755A>G (p.His1252Arg) rs1838210172
NM_000264.5(PTCH1):c.3758A>C (p.Gln1253Pro)
NM_000264.5(PTCH1):c.375G>A (p.Val125=)
NM_000264.5(PTCH1):c.3764T>C (p.Ile1255Thr)
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=) rs758229027
NM_000264.5(PTCH1):c.3765C>G (p.Ile1255Met) rs758229027
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met) rs150850039
NM_000264.5(PTCH1):c.3769G>A (p.Glu1257Lys) rs750397931
NM_000264.5(PTCH1):c.376G>T (p.Glu126Ter) rs2118874002
NM_000264.5(PTCH1):c.3775A>C (p.Thr1259Pro) rs1838207256
NM_000264.5(PTCH1):c.3776C>T (p.Thr1259Ile) rs2136597007
NM_000264.5(PTCH1):c.3779A>G (p.Glu1260Gly)
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser) rs970679518
NM_000264.5(PTCH1):c.3785C>T (p.Pro1262Leu) rs1838206596
NM_000264.5(PTCH1):c.3788T>C (p.Val1263Ala) rs1588516673
NM_000264.5(PTCH1):c.378G>A (p.Glu126=)
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
NM_000264.5(PTCH1):c.3792C>G (p.Phe1264Leu) rs144312968
NM_000264.5(PTCH1):c.3796C>A (p.His1266Asn)
NM_000264.5(PTCH1):c.3796C>T (p.His1266Tyr) rs751826546
NM_000264.5(PTCH1):c.3798C>A (p.His1266Gln)
NM_000264.5(PTCH1):c.379G>T (p.Glu127Ter) rs774822170
NM_000264.5(PTCH1):c.3803C>G (p.Thr1268Ser) rs1554689262
NM_000264.5(PTCH1):c.3804+10T>A rs763314823
NM_000264.5(PTCH1):c.3804+11C>T rs2136596246
NM_000264.5(PTCH1):c.3804+11_3804+12del
NM_000264.5(PTCH1):c.3804+14C>T rs1027523327
NM_000264.5(PTCH1):c.3804+19C>T
NM_000264.5(PTCH1):c.3804+20C>A
NM_000264.5(PTCH1):c.3804+20C>T
NM_000264.5(PTCH1):c.3804+2dup rs1588516590
NM_000264.5(PTCH1):c.3804+3_3804+6del
NM_000264.5(PTCH1):c.3805-12C>A
NM_000264.5(PTCH1):c.3805-14C>T rs771678354
NM_000264.5(PTCH1):c.3805-15C>T
NM_000264.5(PTCH1):c.3805-17A>C
NM_000264.5(PTCH1):c.3805-19C>A
NM_000264.5(PTCH1):c.3805-32_3805-14del rs1838061359
NM_000264.5(PTCH1):c.3805-4G>A rs1060504537
NM_000264.5(PTCH1):c.3805-7T>G
NM_000264.5(PTCH1):c.3805-8C>T rs1056411006
NM_000264.5(PTCH1):c.3805-9C>A rs2236404
NM_000264.5(PTCH1):c.3805-9C>G rs2236404
NM_000264.5(PTCH1):c.3805G>A (p.Val1269Met) rs1838059096
NM_000264.5(PTCH1):c.3805G>T (p.Val1269Leu) rs1838059096
NM_000264.5(PTCH1):c.3807G>C (p.Val1269=) rs1588512522
NM_000264.5(PTCH1):c.3809T>C (p.Val1270Ala) rs1342034180
NM_000264.5(PTCH1):c.3810C>A (p.Val1270=)
NM_000264.5(PTCH1):c.3811C>T (p.His1271Tyr) rs1554688752
NM_000264.5(PTCH1):c.3812A>G (p.His1271Arg) rs1838057444
NM_000264.5(PTCH1):c.3814C>T (p.Pro1272Ser) rs1298467711
NM_000264.5(PTCH1):c.3815C>T (p.Pro1272Leu) rs774167762
NM_000264.5(PTCH1):c.3816C>A (p.Pro1272=) rs369295226
NM_000264.5(PTCH1):c.3818A>C (p.Glu1273Ala)
NM_000264.5(PTCH1):c.381G>A (p.Glu127=) rs1232294231
NM_000264.5(PTCH1):c.381G>C (p.Glu127Asp)
NM_000264.5(PTCH1):c.3822C>T (p.Ser1274=)
NM_000264.5(PTCH1):c.3823A>C (p.Arg1275=) rs1588512429
NM_000264.5(PTCH1):c.3826C>G (p.His1276Asp) rs786204190
NM_000264.5(PTCH1):c.3826C>T (p.His1276Tyr) rs786204190
NM_000264.5(PTCH1):c.3829C>T (p.His1277Tyr) rs1838054298
NM_000264.5(PTCH1):c.3830A>G (p.His1277Arg) rs755092661
NM_000264.5(PTCH1):c.3833C>T (p.Pro1278Leu) rs2136584562
NM_000264.5(PTCH1):c.3835C>T (p.Pro1279Ser) rs1166276004
NM_000264.5(PTCH1):c.3838T>G (p.Ser1280Ala) rs2136584448
NM_000264.5(PTCH1):c.3839C>G (p.Ser1280Trp)
NM_000264.5(PTCH1):c.3840G>T (p.Ser1280=) rs750770371
NM_000264.5(PTCH1):c.3843C>G (p.Asn1281Lys)
NM_000264.5(PTCH1):c.3845C>G (p.Pro1282Arg)
NM_000264.5(PTCH1):c.3850C>T (p.Gln1284Ter) rs1838050037
NM_000264.5(PTCH1):c.3851A>G (p.Gln1284Arg)
NM_000264.5(PTCH1):c.3851AGC[1] (p.Gln1285del)
NM_000264.5(PTCH1):c.3855G>A (p.Gln1285=) rs1319416238
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)
NM_000264.5(PTCH1):c.3857C>A (p.Pro1286His) rs1278213544
NM_000264.5(PTCH1):c.3857C>T (p.Pro1286Leu)
NM_000264.5(PTCH1):c.3858C>G (p.Pro1286=) rs1222530728
NM_000264.5(PTCH1):c.3858C>T (p.Pro1286=) rs1222530728
NM_000264.5(PTCH1):c.3859C>T (p.His1287Tyr) rs1838047745
NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg) rs2118873547
NM_000264.5(PTCH1):c.3860_3907del (p.His1287_Pro1302del) rs1064792957
NM_000264.5(PTCH1):c.3862C>G (p.Leu1288Val) rs1588512171
NM_000264.5(PTCH1):c.3867C>T (p.Asp1289=) rs587780704
NM_000264.5(PTCH1):c.386G>A (p.Trp129Ter) rs2118873472
NM_000264.5(PTCH1):c.3871G>A (p.Gly1291Arg) rs2136583470
NM_000264.5(PTCH1):c.3872G>A (p.Gly1291Glu)
NM_000264.5(PTCH1):c.3873G>A (p.Gly1291=) rs2136583413
NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter) rs1587692888
NM_000264.5(PTCH1):c.3882T>C (p.Pro1294=) rs2136583157
NM_000264.5(PTCH1):c.3883C>T (p.Pro1295Ser) rs1060502275
NM_000264.5(PTCH1):c.3885del (p.Gly1296fs)
NM_000264.5(PTCH1):c.3886G>C (p.Gly1296Arg) rs372828014
NM_000264.5(PTCH1):c.3887G>T (p.Gly1296Val) rs2136583024
NM_000264.5(PTCH1):c.3888A>T (p.Gly1296=)
NM_000264.5(PTCH1):c.3894A>G (p.Gln1298=)
NM_000264.5(PTCH1):c.3896G>A (p.Gly1299Asp) rs773133083
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)
NM_000264.5(PTCH1):c.3900G>A (p.Gln1300=)
NM_000264.5(PTCH1):c.3902A>G (p.Gln1301Arg)
NM_000264.5(PTCH1):c.3903G>A (p.Gln1301=) rs2136582488
NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu) rs780042369
NM_000264.5(PTCH1):c.3906C>T (p.Pro1302=) rs2136582395
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.5(PTCH1):c.3909C>G (p.Arg1303=) rs1458552244
NM_000264.5(PTCH1):c.3910A>G (p.Arg1304Gly)
NM_000264.5(PTCH1):c.3911G>A (p.Arg1304Lys) rs1838039734
NM_000264.5(PTCH1):c.3911G>C (p.Arg1304Thr) rs1838039734
NM_000264.5(PTCH1):c.3912G>A (p.Arg1304=) rs757702954
NM_000264.5(PTCH1):c.3912G>T (p.Arg1304Ser) rs757702954
NM_000264.5(PTCH1):c.3913G>A (p.Asp1305Asn) rs368528885
NM_000264.5(PTCH1):c.3915C>T (p.Asp1305=)
NM_000264.5(PTCH1):c.3916C>T (p.Pro1306Ser) rs1169961504
NM_000264.5(PTCH1):c.3917C>A (p.Pro1306His) rs864622483
NM_000264.5(PTCH1):c.3918C>T (p.Pro1306=)
NM_000264.5(PTCH1):c.3919C>G (p.Pro1307Ala) rs574880967
NM_000264.5(PTCH1):c.391G>A (p.Glu131Lys) rs1321623220
NM_000264.5(PTCH1):c.391G>C (p.Glu131Gln)
NM_000264.5(PTCH1):c.3920C>A (p.Pro1307His) rs181585555
NM_000264.5(PTCH1):c.3920C>T (p.Pro1307Leu) rs181585555
NM_000264.5(PTCH1):c.3921C>A (p.Pro1307=) rs766089412
NM_000264.5(PTCH1):c.3921C>G (p.Pro1307=) rs766089412
NM_000264.5(PTCH1):c.3921C>T (p.Pro1307=) rs766089412
NM_000264.5(PTCH1):c.3921del (p.Arg1308fs)
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs) rs761353734
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser) rs762725821
NM_000264.5(PTCH1):c.3929G>T (p.Gly1310Val) rs773043616
NM_000264.5(PTCH1):c.3930C>G (p.Gly1310=) rs769743412
NM_000264.5(PTCH1):c.3931T>C (p.Leu1311=)
NM_000264.5(PTCH1):c.3933G>A (p.Leu1311=) rs761688859
NM_000264.5(PTCH1):c.3933G>T (p.Leu1311Phe) rs761688859
NM_000264.5(PTCH1):c.3936G>A (p.Trp1312Ter) rs1360926879
NM_000264.5(PTCH1):c.3936G>T (p.Trp1312Cys) rs1360926879
NM_000264.5(PTCH1):c.3939A>G (p.Pro1313=)
NM_000264.5(PTCH1):c.3939A>T (p.Pro1313=)
NM_000264.5(PTCH1):c.394+10C>G rs755119764
NM_000264.5(PTCH1):c.394+13G>C
NM_000264.5(PTCH1):c.394+13_394+30del
NM_000264.5(PTCH1):c.394+14_394+33del rs2118871805
NM_000264.5(PTCH1):c.394+15C>A
NM_000264.5(PTCH1):c.394+15_394+26del rs762616418
NM_000264.5(PTCH1):c.394+15del
NM_000264.5(PTCH1):c.394+16G>C
NM_000264.5(PTCH1):c.394+17C>T
NM_000264.5(PTCH1):c.394+18G>C rs749589611
NM_000264.5(PTCH1):c.394+1G>A rs1131690995
NM_000264.5(PTCH1):c.394+20C>T
NM_000264.5(PTCH1):c.394+24C>T rs561263076
NM_000264.5(PTCH1):c.394+2dup rs1587692814
NM_000264.5(PTCH1):c.394+4A>G
NM_000264.5(PTCH1):c.394+6A>T
NM_000264.5(PTCH1):c.394+8C>G rs1373035322
NM_000264.5(PTCH1):c.394+8C>T
NM_000264.5(PTCH1):c.394+9G>C rs1587692775
NM_000264.5(PTCH1):c.3940C>G (p.Pro1314Ala)
NM_000264.5(PTCH1):c.3941C>A (p.Pro1314His)
NM_000264.5(PTCH1):c.3942C>T (p.Pro1314=) rs1406247800
NM_000264.5(PTCH1):c.3942_3944delinsAGT (p.Pro1315Val) rs2136581220
NM_000264.5(PTCH1):c.3943C>G (p.Pro1315Ala)
NM_000264.5(PTCH1):c.3943_3944delinsTT (p.Pro1315Phe) rs1588511695
NM_000264.5(PTCH1):c.3944C>A (p.Pro1315His) rs357564
NM_000264.5(PTCH1):c.3944C>G (p.Pro1315Arg) rs357564
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.3944_3945insT (p.Tyr1316fs) rs1838031865
NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly) rs1482005246
NM_000264.5(PTCH1):c.395-11A>G rs748299945
NM_000264.5(PTCH1):c.395-11A>T
NM_000264.5(PTCH1):c.395-13A>G
NM_000264.5(PTCH1):c.395-14T>A rs2118552430
NM_000264.5(PTCH1):c.395-15G>A
NM_000264.5(PTCH1):c.395-18C>G
NM_000264.5(PTCH1):c.395-18C>T
NM_000264.5(PTCH1):c.395-5G>C
NM_000264.5(PTCH1):c.395-6T>G rs1162835966
NM_000264.5(PTCH1):c.395-7T>G rs2118551966
NM_000264.5(PTCH1):c.395-8T>C rs755013836
NM_000264.5(PTCH1):c.3951A>C (p.Arg1317Ser) rs1211632031
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg) rs536440590
NM_000264.5(PTCH1):c.3953C>T (p.Pro1318Leu) rs536440590
NM_000264.5(PTCH1):c.3956G>T (p.Arg1319Leu) rs572658914
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=) rs1554688549
NM_000264.5(PTCH1):c.3958A>G (p.Arg1320Gly) rs1838027827
NM_000264.5(PTCH1):c.395T>C (p.Val132Ala)
NM_000264.5(PTCH1):c.3962A>G (p.Asp1321Gly)
NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr) rs896779358
NM_000264.5(PTCH1):c.3965C>T (p.Ala1322Val) rs1054532927
NM_000264.5(PTCH1):c.3968T>C (p.Phe1323Ser)
NM_000264.5(PTCH1):c.3971A>G (p.Glu1324Gly)
NM_000264.5(PTCH1):c.3975T>C (p.Ile1325=)
NM_000264.5(PTCH1):c.3976T>C (p.Ser1326Pro)
NM_000264.5(PTCH1):c.3977C>T (p.Ser1326Phe) rs764964224
NM_000264.5(PTCH1):c.3979A>G (p.Thr1327Ala) rs761753681
NM_000264.5(PTCH1):c.3981T>C (p.Thr1327=) rs1588511470
NM_000264.5(PTCH1):c.3981T>G (p.Thr1327=) rs1588511470
NM_000264.5(PTCH1):c.3989A>G (p.His1330Arg) rs1564005652
NM_000264.5(PTCH1):c.3992C>G (p.Ser1331Cys) rs150373546
NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe) rs150373546
NM_000264.5(PTCH1):c.399A>G (p.Gly133=) rs2118551268
NM_000264.5(PTCH1):c.4000_4023dup (p.Ser1334_Pro1341dup) rs1588511230
NM_000264.5(PTCH1):c.4001G>C (p.Ser1334Thr) rs200620662
NM_000264.5(PTCH1):c.4002C>A (p.Ser1334Arg) rs933654875
NM_000264.5(PTCH1):c.4002C>T (p.Ser1334=)
NM_000264.5(PTCH1):c.4005T>C (p.Asn1335=) rs1588511343
NM_000264.5(PTCH1):c.4006_4026del (p.Arg1336_Arg1342del)
NM_000264.5(PTCH1):c.4007G>A (p.Arg1336Lys) rs1838019737
NM_000264.5(PTCH1):c.4008G>A (p.Arg1336=) rs1838019496
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
NM_000264.5(PTCH1):c.4010C>T (p.Ala1337Val)
NM_000264.5(PTCH1):c.4011C>T (p.Ala1337=)
NM_000264.5(PTCH1):c.4013G>T (p.Arg1338Leu) rs771238114
NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del) rs774819810
NM_000264.5(PTCH1):c.4018G>A (p.Gly1340Ser)
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp) rs1218728112
NM_000264.5(PTCH1):c.4019G>C (p.Gly1340Ala)
NM_000264.5(PTCH1):c.4020C>G (p.Gly1340=) rs773564643
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=) rs773564643
NM_000264.5(PTCH1):c.4021C>T (p.Pro1341Ser)
NM_000264.5(PTCH1):c.4022C>T (p.Pro1341Leu) rs748609458
NM_000264.5(PTCH1):c.4024C>G (p.Arg1342Gly) rs781539921
NM_000264.5(PTCH1):c.4025G>T (p.Arg1342Leu) rs575146278
NM_000264.5(PTCH1):c.4026C>A (p.Arg1342=)
NM_000264.5(PTCH1):c.4027G>T (p.Gly1343Trp) rs200100952
NM_000264.5(PTCH1):c.4029G>A (p.Gly1343=) rs750057721
NM_000264.5(PTCH1):c.402A>C (p.Gly134=)
NM_000264.5(PTCH1):c.4031C>T (p.Ala1344Val) rs1060502289
NM_000264.5(PTCH1):c.4032C>T (p.Ala1344=) rs1838013057
NM_000264.5(PTCH1):c.4033C>G (p.Arg1345Gly) rs556901417
NM_000264.5(PTCH1):c.4037C>T (p.Ser1346Phe) rs1554688418
NM_000264.5(PTCH1):c.4039C>T (p.His1347Tyr) rs760724368
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter) rs1131690986
NM_000264.5(PTCH1):c.403_406del (p.Gly134_Arg135insTer)
NM_000264.5(PTCH1):c.4040A>T (p.His1347Leu) rs2136578408
NM_000264.5(PTCH1):c.4041C>A (p.His1347Gln) rs774524114
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys) rs1412873206
NM_000264.5(PTCH1):c.4044C>T (p.Asn1348=) rs1412873206
NM_000264.5(PTCH1):c.4048C>A (p.Arg1350=) rs140417636
NM_000264.5(PTCH1):c.4048C>G (p.Arg1350Gly) rs140417636
NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) rs786204103
NM_000264.5(PTCH1):c.4052A>G (p.Asn1351Ser) rs1588510932
NM_000264.5(PTCH1):c.4053C>A (p.Asn1351Lys) rs1564005341
NM_000264.5(PTCH1):c.4055C>T (p.Pro1352Leu) rs1022984391
NM_000264.5(PTCH1):c.405A>G (p.Arg135=)
NM_000264.5(PTCH1):c.4060T>C (p.Ser1354Pro)
NM_000264.5(PTCH1):c.4064C>T (p.Thr1355Ile) rs779482395
NM_000264.5(PTCH1):c.4067C>T (p.Ala1356Val) rs2136577556
NM_000264.5(PTCH1):c.4069A>G (p.Met1357Val) rs757909121
NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu) rs757909121
NM_000264.5(PTCH1):c.406G>A (p.Val136Ile) rs1240746395
NM_000264.5(PTCH1):c.406del (p.Arg135_Val136insTer) rs2118550859
NM_000264.5(PTCH1):c.4070T>C (p.Met1357Thr)
NM_000264.5(PTCH1):c.4071G>A (p.Met1357Ile)
NM_000264.5(PTCH1):c.4075A>G (p.Ser1359Gly)
NM_000264.5(PTCH1):c.4077C>T (p.Ser1359=)
NM_000264.5(PTCH1):c.4078T>C (p.Ser1360Pro) rs1838003007
NM_000264.5(PTCH1):c.407dup (p.Ser137fs) rs1564063386
NM_000264.5(PTCH1):c.4080C>A (p.Ser1360=) rs62637631
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.5(PTCH1):c.4084C>T (p.Pro1362Ser) rs1838001528
NM_000264.5(PTCH1):c.4085C>G (p.Pro1362Arg)
NM_000264.5(PTCH1):c.4087G>C (p.Gly1363Arg) rs767625820
NM_000264.5(PTCH1):c.4089C>T (p.Gly1363=)
NM_000264.5(PTCH1):c.408A>G (p.Val136=)
NM_000264.5(PTCH1):c.4091A>G (p.Tyr1364Cys) rs1838000346
NM_000264.5(PTCH1):c.4092C>T (p.Tyr1364=) rs2136576724
NM_000264.5(PTCH1):c.4094G>T (p.Cys1365Phe) rs1397510746
NM_000264.5(PTCH1):c.4095C>T (p.Cys1365=) rs864622569
NM_000264.5(PTCH1):c.4101C>T (p.Pro1367=)
NM_000264.5(PTCH1):c.4106C>G (p.Thr1369Ser)
NM_000264.5(PTCH1):c.4106C>T (p.Thr1369Ile) rs762925808
NM_000264.5(PTCH1):c.4108_4110del (p.Thr1370del)
NM_000264.5(PTCH1):c.410G>A (p.Ser137Asn)
NM_000264.5(PTCH1):c.4110T>C (p.Thr1370=)
NM_000264.5(PTCH1):c.4111G>A (p.Val1371Met) rs1837997469
NM_000264.5(PTCH1):c.4112T>C (p.Val1371Ala)
NM_000264.5(PTCH1):c.4116G>A (p.Thr1372=) rs776937004
NM_000264.5(PTCH1):c.4116G>T (p.Thr1372=) rs776937004
NM_000264.5(PTCH1):c.4117G>A (p.Ala1373Thr) rs1267726258
NM_000264.5(PTCH1):c.4118C>G (p.Ala1373Gly) rs2136576006
NM_000264.5(PTCH1):c.4123G>A (p.Ala1375Thr)
NM_000264.5(PTCH1):c.4123G>T (p.Ala1375Ser) rs769022340
NM_000264.5(PTCH1):c.4125C>G (p.Ala1375=)
NM_000264.5(PTCH1):c.4125C>T (p.Ala1375=) rs775974258
NM_000264.5(PTCH1):c.4129G>C (p.Val1377Leu) rs745337014
NM_000264.5(PTCH1):c.4131G>C (p.Val1377=) rs2136575661
NM_000264.5(PTCH1):c.4133C>G (p.Thr1378Ser)
NM_000264.5(PTCH1):c.4135G>C (p.Val1379Leu) rs2136575538
NM_000264.5(PTCH1):c.4138G>C (p.Ala1380Pro) rs111481152
NM_000264.5(PTCH1):c.4138G>T (p.Ala1380Ser) rs111481152
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val) rs777641179
NM_000264.5(PTCH1):c.4140C>A (p.Ala1380=)
NM_000264.5(PTCH1):c.4141G>T (p.Val1381Leu) rs187104739
NM_000264.5(PTCH1):c.4143G>A (p.Val1381=) rs2136575217
NM_000264.5(PTCH1):c.4145A>C (p.His1382Pro) rs1837991686
NM_000264.5(PTCH1):c.4145A>G (p.His1382Arg)
NM_000264.5(PTCH1):c.4146C>G (p.His1382Gln) rs1207158056
NM_000264.5(PTCH1):c.4149G>T (p.Pro1383=)
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu) rs754065147
NM_000264.5(PTCH1):c.4155T>G (p.Pro1385=) rs2136574783
NM_000264.5(PTCH1):c.4158C>T (p.Val1386=)
NM_000264.5(PTCH1):c.4160C>G (p.Pro1387Arg) rs552921967
NM_000264.5(PTCH1):c.4160CTGGGC[1] (p.1387PG[1])
NM_000264.5(PTCH1):c.4160CTGGGC[3] (p.1387PG[3]) rs1060502272
NM_000264.5(PTCH1):c.4160del (p.Pro1387fs) rs1837987148
NM_000264.5(PTCH1):c.4163G>A (p.Gly1388Glu)
NM_000264.5(PTCH1):c.4165C>T (p.Pro1389Ser) rs1180812915
NM_000264.5(PTCH1):c.4166C>G (p.Pro1389Arg) rs1837985984
NM_000264.5(PTCH1):c.4166C>T (p.Pro1389Leu) rs1837985984
NM_000264.5(PTCH1):c.4167T>C (p.Pro1389=)
NM_000264.5(PTCH1):c.4168G>C (p.Gly1390Arg) rs1239904766
NM_000264.5(PTCH1):c.4168G>T (p.Gly1390Trp) rs1239904766
NM_000264.5(PTCH1):c.4169G>A (p.Gly1390Glu) rs1837985101
NM_000264.5(PTCH1):c.416A>G (p.Glu139Gly)
NM_000264.5(PTCH1):c.4171C>A (p.Arg1391=) rs45535032
NM_000264.5(PTCH1):c.4177C>A (p.Pro1393Thr) rs1388774785
NM_000264.5(PTCH1):c.4177C>T (p.Pro1393Ser)
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu) rs1368334005
NM_000264.5(PTCH1):c.4179C>A (p.Pro1393=) rs1057521043
NM_000264.5(PTCH1):c.4179C>T (p.Pro1393=) rs1057521043
NM_000264.5(PTCH1):c.417A>G (p.Glu139=) rs755854293
NM_000264.5(PTCH1):c.4180dup (p.Arg1394fs) rs1297699637
NM_000264.5(PTCH1):c.4184G>A (p.Gly1395Glu)
NM_000264.5(PTCH1):c.4185G>T (p.Gly1395=) rs769616992
NM_000264.5(PTCH1):c.4187G>C (p.Gly1396Ala)
NM_000264.5(PTCH1):c.4187G>T (p.Gly1396Val) rs747923595
NM_000264.5(PTCH1):c.4187del (p.Gly1396fs) rs1588510168
NM_000264.5(PTCH1):c.4188A>G (p.Gly1396=) rs2136573868
NM_000264.5(PTCH1):c.4188del (p.Leu1397fs)
NM_000264.5(PTCH1):c.4189C>A (p.Leu1397Ile) rs1837978959
NM_000264.5(PTCH1):c.4189C>T (p.Leu1397Phe) rs1837978959
NM_000264.5(PTCH1):c.418T>C (p.Leu140=) rs2118549817
NM_000264.5(PTCH1):c.4191C>G (p.Leu1397=) rs754826635
NM_000264.5(PTCH1):c.4191C>T (p.Leu1397=) rs754826635
NM_000264.5(PTCH1):c.4191_4192dup (p.Cys1398fs)
NM_000264.5(PTCH1):c.4192T>C (p.Cys1398Arg) rs1372936088
NM_000264.5(PTCH1):c.4193G>A (p.Cys1398Tyr)
NM_000264.5(PTCH1):c.4193G>C (p.Cys1398Ser)
NM_000264.5(PTCH1):c.4193del (p.Cys1398fs) rs1837977676
NM_000264.5(PTCH1):c.4194C>T (p.Cys1398=)
NM_000264.5(PTCH1):c.4196C>T (p.Pro1399Leu) rs1564004776
NM_000264.5(PTCH1):c.4197A>G (p.Pro1399=)
NM_000264.5(PTCH1):c.4200C>A (p.Gly1400=)
NM_000264.5(PTCH1):c.4200C>T (p.Gly1400=) rs1554688167
NM_000264.5(PTCH1):c.4201T>C (p.Tyr1401His) rs2136573477
NM_000264.5(PTCH1):c.4202A>C (p.Tyr1401Ser)
NM_000264.5(PTCH1):c.4202A>G (p.Tyr1401Cys) rs1837975310
NM_000264.5(PTCH1):c.4203C>T (p.Tyr1401=) rs1588510064
NM_000264.5(PTCH1):c.4207G>A (p.Glu1403Lys)
NM_000264.5(PTCH1):c.4208A>G (p.Glu1403Gly) rs1837974768
NM_000264.5(PTCH1):c.4214A>G (p.Asp1405Gly)
NM_000264.5(PTCH1):c.4215C>T (p.Asp1405=) rs2136573135
NM_000264.5(PTCH1):c.4216C>G (p.His1406Asp) rs1837973275
NM_000264.5(PTCH1):c.4218C>A (p.His1406Gln) rs372558350
NM_000264.5(PTCH1):c.4218del (p.His1406fs) rs2136573069
NM_000264.5(PTCH1):c.4219_4220dup (p.Leu1408fs)
NM_000264.5(PTCH1):c.421A>G (p.Asn141Asp) rs1841928550
NM_000264.5(PTCH1):c.4226T>C (p.Phe1409Ser)
NM_000264.5(PTCH1):c.4228G>A (p.Glu1410Lys) rs1554688143
NM_000264.5(PTCH1):c.4230G>A (p.Glu1410=) rs774528758
NM_000264.5(PTCH1):c.4230_4231insACTGAG (p.Glu1410_Asp1411insThrGlu) rs1434554186
NM_000264.5(PTCH1):c.4232A>G (p.Asp1411Gly) rs774913538
NM_000264.5(PTCH1):c.4232A>T (p.Asp1411Val)
NM_000264.5(PTCH1):c.4233C>A (p.Asp1411Glu) rs2136572617
NM_000264.5(PTCH1):c.4233C>T (p.Asp1411=) rs2136572617
NM_000264.5(PTCH1):c.4234C>G (p.Pro1412Ala) rs1554688130
NM_000264.5(PTCH1):c.4234C>T (p.Pro1412Ser) rs1554688130
NM_000264.5(PTCH1):c.4236C>G (p.Pro1412=) rs369083374
NM_000264.5(PTCH1):c.4236C>T (p.Pro1412=) rs369083374
NM_000264.5(PTCH1):c.4238A>G (p.His1413Arg)
NM_000264.5(PTCH1):c.4239C>A (p.His1413Gln)
NM_000264.5(PTCH1):c.4240G>T (p.Val1414Leu)
NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
NM_000264.5(PTCH1):c.4242G>A (p.Val1414=) rs1390378010
NM_000264.5(PTCH1):c.4243C>G (p.Pro1415Ala) rs1837967897
NM_000264.5(PTCH1):c.4246T>C (p.Phe1416Leu) rs1554688102
NM_000264.5(PTCH1):c.4246_4247dup (p.His1417fs)
NM_000264.5(PTCH1):c.4247T>G (p.Phe1416Cys) rs1837966836
NM_000264.5(PTCH1):c.4250A>G (p.His1417Arg)
NM_000264.5(PTCH1):c.4252G>T (p.Val1418Phe) rs369882883
NM_000264.5(PTCH1):c.4253T>C (p.Val1418Ala) rs2136572074
NM_000264.5(PTCH1):c.4254C>T (p.Val1418=) rs1295502837
NM_000264.5(PTCH1):c.4255C>A (p.Arg1419=) rs139942632
NM_000264.5(PTCH1):c.4255C>G (p.Arg1419Gly)
NM_000264.5(PTCH1):c.4257G>C (p.Arg1419=) rs1588509739
NM_000264.5(PTCH1):c.4257G>T (p.Arg1419=) rs1588509739
NM_000264.5(PTCH1):c.4258T>C (p.Cys1420Arg) rs864622068
NM_000264.5(PTCH1):c.4259G>A (p.Cys1420Tyr) rs913816675
NM_000264.5(PTCH1):c.425A>G (p.Tyr142Cys)
NM_000264.5(PTCH1):c.4261G>A (p.Glu1421Lys) rs575473447
NM_000264.5(PTCH1):c.4263G>A (p.Glu1421=) rs2136571795
NM_000264.5(PTCH1):c.4264A>G (p.Arg1422Gly) rs1246323077
NM_000264.5(PTCH1):c.4267A>G (p.Arg1423Gly)
NM_000264.5(PTCH1):c.4268G>A (p.Arg1423Lys)
NM_000264.5(PTCH1):c.4269G>T (p.Arg1423Ser)
NM_000264.5(PTCH1):c.426T>C (p.Tyr142=)
NM_000264.5(PTCH1):c.4270G>T (p.Asp1424Tyr) rs1837962537
NM_000264.5(PTCH1):c.4272T>C (p.Asp1424=)
NM_000264.5(PTCH1):c.4275G>T (p.Ser1425=)
NM_000264.5(PTCH1):c.4276A>G (p.Lys1426Glu)
NM_000264.5(PTCH1):c.4277A>C (p.Lys1426Thr)
NM_000264.5(PTCH1):c.4278G>A (p.Lys1426=)
NM_000264.5(PTCH1):c.4279G>A (p.Val1427Met)
NM_000264.5(PTCH1):c.4279G>C (p.Val1427Leu)
NM_000264.5(PTCH1):c.4280T>C (p.Val1427Ala) rs1060502283
NM_000264.5(PTCH1):c.4282G>A (p.Glu1428Lys)
NM_000264.5(PTCH1):c.4286T>C (p.Val1429Ala)
NM_000264.5(PTCH1):c.4295T>A (p.Leu1432Gln) rs755078405
NM_000264.5(PTCH1):c.4295T>C (p.Leu1432Pro)
NM_000264.5(PTCH1):c.4296G>A (p.Leu1432=) rs1554688070
NM_000264.5(PTCH1):c.4296G>T (p.Leu1432=) rs1554688070
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu) rs772802013
NM_000264.5(PTCH1):c.429T>A (p.Thr143=)
NM_000264.5(PTCH1):c.429T>C (p.Thr143=)
NM_000264.5(PTCH1):c.429T>G (p.Thr143=)
NM_000264.5(PTCH1):c.4301A>G (p.Asp1434Gly) rs2136571074
NM_000264.5(PTCH1):c.4305G>A (p.Val1435=)
NM_000264.5(PTCH1):c.4306G>C (p.Glu1436Gln)
NM_000264.5(PTCH1):c.4307A>G (p.Glu1436Gly) rs2136570975
NM_000264.5(PTCH1):c.4309T>G (p.Cys1437Gly)
NM_000264.5(PTCH1):c.430del (p.Arg144fs)
NM_000264.5(PTCH1):c.4311C>G (p.Cys1437Trp) rs368571026
NM_000264.5(PTCH1):c.4312G>C (p.Glu1438Gln)
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter) rs2136570815
NM_000264.5(PTCH1):c.4317G>C (p.Glu1439Asp)
NM_000264.5(PTCH1):c.4318A>G (p.Arg1440Gly) rs1564004291
NM_000264.5(PTCH1):c.4319G>A (p.Arg1440Lys) rs1354112241
NM_000264.5(PTCH1):c.431G>A (p.Arg144His) rs1316474105
NM_000264.5(PTCH1):c.431G>T (p.Arg144Leu) rs1316474105
NM_000264.5(PTCH1):c.431_438del (p.Arg144fs) rs2118548727
NM_000264.5(PTCH1):c.4324C>A (p.Arg1442=)
NM_000264.5(PTCH1):c.4324C>G (p.Arg1442Gly) rs143464326
NM_000264.5(PTCH1):c.4325G>T (p.Arg1442Leu) rs56023271
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val) rs864622100
NM_000264.5(PTCH1):c.4330A>C (p.Ser1444Arg)
NM_000264.5(PTCH1):c.4331G>A (p.Ser1444Asn) rs1347860599
NM_000264.5(PTCH1):c.4332C>T (p.Ser1444=) rs1325469372
NM_000264.5(PTCH1):c.4337C>T (p.Ser1446Phe) rs2136570475
NM_000264.5(PTCH1):c.433C>T (p.Gln145Ter) rs1554702186
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser) rs972576439
NM_000264.5(PTCH1):c.4342T>C (p.Ter1448Arg)
NM_000264.5(PTCH1):c.4343G>A (p.Ter1448=) rs2136570427
NM_000264.5(PTCH1):c.434A>G (p.Gln145Arg)
NM_000264.5(PTCH1):c.435G>A (p.Gln145=)
NM_000264.5(PTCH1):c.435G>T (p.Gln145His)
NM_000264.5(PTCH1):c.439A>G (p.Ile147Val) rs1564063300
NM_000264.5(PTCH1):c.440T>C (p.Ile147Thr) rs1588622790
NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter) rs1344258746
NM_000264.5(PTCH1):c.451del (p.Ala151fs) rs2118547596
NM_000264.5(PTCH1):c.452_464del (p.Ala151fs) rs1841923572
NM_000264.5(PTCH1):c.453T>C (p.Ala151=)
NM_000264.5(PTCH1):c.453T>G (p.Ala151=) rs879188085
NM_000264.5(PTCH1):c.454_455del (p.Met152fs) rs1060502280
NM_000264.5(PTCH1):c.461A>T (p.Asn154Ile) rs1302474403
NM_000264.5(PTCH1):c.466C>T (p.Gln156Ter) rs2118546196
NM_000264.5(PTCH1):c.468A>C (p.Gln156His) rs200729445
NM_000264.5(PTCH1):c.468A>G (p.Gln156=) rs200729445
NM_000264.5(PTCH1):c.469C>A (p.Leu157Ile)
NM_000264.5(PTCH1):c.470T>C (p.Leu157Pro) rs2118545890
NM_000264.5(PTCH1):c.471C>T (p.Leu157=)
NM_000264.5(PTCH1):c.472A>C (p.Met158Leu) rs758656848
NM_000264.5(PTCH1):c.472A>G (p.Met158Val) rs758656848
NM_000264.5(PTCH1):c.474G>A (p.Met158Ile)
NM_000264.5(PTCH1):c.475A>G (p.Ile159Val) rs1060502288
NM_000264.5(PTCH1):c.478C>T (p.Gln160Ter)
NM_000264.5(PTCH1):c.479A>G (p.Gln160Arg) rs1060502267
NM_000264.5(PTCH1):c.480G>A (p.Gln160=) rs1841921572
NM_000264.5(PTCH1):c.482C>G (p.Thr161Ser)
NM_000264.5(PTCH1):c.485C>T (p.Pro162Leu)
NM_000264.5(PTCH1):c.487A>G (p.Lys163Glu) rs1588622580
NM_000264.5(PTCH1):c.488A>C (p.Lys163Thr) rs56406491
NM_000264.5(PTCH1):c.488A>G (p.Lys163Arg) rs56406491
NM_000264.5(PTCH1):c.488AAG[2] (p.Glu165del) rs1201611173
NM_000264.5(PTCH1):c.489A>G (p.Lys163=) rs2118544161
NM_000264.5(PTCH1):c.490G>A (p.Glu164Lys) rs2118544070
NM_000264.5(PTCH1):c.490G>T (p.Glu164Ter)
NM_000264.5(PTCH1):c.496G>A (p.Gly166Ser) rs2118543729
NM_000264.5(PTCH1):c.500C>T (p.Ala167Val) rs587780707
NM_000264.5(PTCH1):c.501T>A (p.Ala167=) rs1841918369
NM_000264.5(PTCH1):c.501T>C (p.Ala167=) rs1841918369
NM_000264.5(PTCH1):c.501_502dup (p.Asn168fs) rs2118543334
NM_000264.5(PTCH1):c.502A>G (p.Asn168Asp) rs2118543274
NM_000264.5(PTCH1):c.503A>C (p.Asn168Thr)
NM_000264.5(PTCH1):c.505G>C (p.Val169Leu)
NM_000264.5(PTCH1):c.507C>G (p.Val169=) rs1490972795
NM_000264.5(PTCH1):c.507C>T (p.Val169=) rs1490972795
NM_000264.5(PTCH1):c.508C>G (p.Leu170Val) rs1841917213
NM_000264.5(PTCH1):c.508C>T (p.Leu170=)
NM_000264.5(PTCH1):c.510G>A (p.Leu170=)
NM_000264.5(PTCH1):c.512C>T (p.Thr171Ile) rs1554702106
NM_000264.5(PTCH1):c.521C>G (p.Ala174Gly) rs772368023
NM_000264.5(PTCH1):c.522G>T (p.Ala174=) rs891032185
NM_000264.5(PTCH1):c.525C>T (p.Leu175=) rs1554702079
NM_000264.5(PTCH1):c.528ACA[1] (p.Gln177del) rs864622108
NM_000264.5(PTCH1):c.529C>T (p.Gln177Ter) rs2118540467
NM_000264.5(PTCH1):c.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.551A>G (p.Gln184Arg)
NM_000264.5(PTCH1):c.554C>T (p.Ala185Val) rs1276503562
NM_000264.5(PTCH1):c.554_584+1dup rs2118537234
NM_000264.5(PTCH1):c.555C>T (p.Ala185=) rs1197767332
NM_000264.5(PTCH1):c.555del (p.Ser186fs) rs2118538755
NM_000264.5(PTCH1):c.556A>G (p.Ser186Gly) rs1564062769
NM_000264.5(PTCH1):c.559C>T (p.Arg187Cys) rs1554702047
NM_000264.5(PTCH1):c.559del (p.Arg187fs)
NM_000264.5(PTCH1):c.560_574del (p.Arg187_Met192delinsLeu) rs1841905841
NM_000264.5(PTCH1):c.564C>A (p.Val188=)
NM_000264.5(PTCH1):c.564C>G (p.Val188=) rs963079015
NM_000264.5(PTCH1):c.564C>T (p.Val188=)
NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
NM_000264.5(PTCH1):c.570A>G (p.Val190=) rs1292107414
NM_000264.5(PTCH1):c.571T>C (p.Tyr191His) rs1480028040
NM_000264.5(PTCH1):c.573C>A (p.Tyr191Ter) rs1249050389
NM_000264.5(PTCH1):c.573C>T (p.Tyr191=) rs1249050389
NM_000264.5(PTCH1):c.577T>C (p.Tyr193His) rs1841905015
NM_000264.5(PTCH1):c.579C>A (p.Tyr193Ter) rs1333346461
NM_000264.5(PTCH1):c.582C>T (p.Asn194=) rs2118537361
NM_000264.5(PTCH1):c.584+10G>C rs765713791
NM_000264.5(PTCH1):c.584+16T>A
NM_000264.5(PTCH1):c.584+16T>G
NM_000264.5(PTCH1):c.584+18C>G
NM_000264.5(PTCH1):c.584+20C>T
NM_000264.5(PTCH1):c.584+8C>T
NM_000264.5(PTCH1):c.584G>A (p.Arg195Lys) rs1554702009
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr) rs1554702009
NM_000264.5(PTCH1):c.585-10A>G
NM_000264.5(PTCH1):c.585-11_585-7del rs1588614760
NM_000264.5(PTCH1):c.585-17_585-13del rs776103507
NM_000264.5(PTCH1):c.585-1G>A
NM_000264.5(PTCH1):c.585-1G>C rs1057520590
NM_000264.5(PTCH1):c.585-20T>G
NM_000264.5(PTCH1):c.585-5A>G rs1588614746
NM_000264.5(PTCH1):c.585G>A (p.Arg195=)
NM_000264.5(PTCH1):c.586C>T (p.Gln196Ter)
NM_000264.5(PTCH1):c.589T>C (p.Trp197Arg) rs1312950307
NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter) rs1064793922
NM_000264.5(PTCH1):c.591G>A (p.Trp197Ter) rs1841597665
NM_000264.5(PTCH1):c.594del (p.Lys198fs)
NM_000264.5(PTCH1):c.595T>C (p.Leu199=) rs2118474956
NM_000264.5(PTCH1):c.596T>G (p.Leu199Trp) rs767791358
NM_000264.5(PTCH1):c.597G>A (p.Leu199=)
NM_000264.5(PTCH1):c.598G>A (p.Glu200Lys)
NM_000264.5(PTCH1):c.600A>G (p.Glu200=)
NM_000264.5(PTCH1):c.602del (p.His201fs) rs1554700742
NM_000264.5(PTCH1):c.603T>A (p.His201Gln)
NM_000264.5(PTCH1):c.606G>A (p.Leu202=) rs769719333
NM_000264.5(PTCH1):c.606G>T (p.Leu202Phe) rs769719333
NM_000264.5(PTCH1):c.610T>G (p.Tyr204Asp)
NM_000264.5(PTCH1):c.612C>G (p.Tyr204Ter) rs863224486
NM_000264.5(PTCH1):c.612C>T (p.Tyr204=)
NM_000264.5(PTCH1):c.614A>C (p.Lys205Thr) rs1841595401
NM_000264.5(PTCH1):c.615del (p.Lys205fs) rs1554700720
NM_000264.5(PTCH1):c.617C>G (p.Ser206Ter)
NM_000264.5(PTCH1):c.618A>C (p.Ser206=)
NM_000264.5(PTCH1):c.618A>G (p.Ser206=) rs1841594710
NM_000264.5(PTCH1):c.623A>C (p.Glu208Ala) rs2118473498
NM_000264.5(PTCH1):c.627del (p.Ile210fs) rs1564058222
NM_000264.5(PTCH1):c.628A>G (p.Ile210Val) rs1588614551
NM_000264.5(PTCH1):c.628A>T (p.Ile210Phe) rs1588614551
NM_000264.5(PTCH1):c.631A>T (p.Thr211Ser)
NM_000264.5(PTCH1):c.633A>G (p.Thr211=)
NM_000264.5(PTCH1):c.639del (p.Gly214fs) rs2118472793
NM_000264.5(PTCH1):c.641G>A (p.Gly214Asp)
NM_000264.5(PTCH1):c.641G>T (p.Gly214Val) rs2118472707
NM_000264.5(PTCH1):c.645C>T (p.Tyr215=) rs878853858
NM_000264.5(PTCH1):c.647T>C (p.Met216Thr)
NM_000264.5(PTCH1):c.648_651dup (p.Gln218fs) rs2118472215
NM_000264.5(PTCH1):c.649G>T (p.Asp217Tyr)
NM_000264.5(PTCH1):c.652dup (p.Gln218fs) rs1564058147
NM_000264.5(PTCH1):c.654+10C>G
NM_000264.5(PTCH1):c.654+12T>G rs1841588620
NM_000264.5(PTCH1):c.654+13C>A
NM_000264.5(PTCH1):c.654+16G>C
NM_000264.5(PTCH1):c.654+17T>C
NM_000264.5(PTCH1):c.654+19G>A
NM_000264.5(PTCH1):c.654+19G>T
NM_000264.5(PTCH1):c.654+1G>A rs2118471978
NM_000264.5(PTCH1):c.654+3A>G rs1131690966
NM_000264.5(PTCH1):c.654+7T>A rs1588614471
NM_000264.5(PTCH1):c.654+8T>G rs2118471579
NM_000264.5(PTCH1):c.654+9T>C rs1554700690
NM_000264.5(PTCH1):c.655-11A>G
NM_000264.5(PTCH1):c.655-12_655-11insGGCCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGAGACTGGATGGTCTGGATCTCGTGTACTCGTGATACTCCCGCCTCTGCCTCCCAAACAGCTGGGATTACAGGCGTGAGCCACTTCGCCCGGCC
NM_000264.5(PTCH1):c.655-17_655-15del
NM_000264.5(PTCH1):c.655-1G>T
NM_000264.5(PTCH1):c.655-20C>A
NM_000264.5(PTCH1):c.655-2A>G
NM_000264.5(PTCH1):c.657A>C (p.Ile219=)
NM_000264.5(PTCH1):c.657A>T (p.Ile219=) rs1425544626
NM_000264.5(PTCH1):c.660_661insAA (p.Glu221fs) rs2118466784
NM_000264.5(PTCH1):c.661G>A (p.Glu221Lys) rs1554700647
NM_000264.5(PTCH1):c.663A>G (p.Glu221=) rs1479973586
NM_000264.5(PTCH1):c.665A>C (p.Tyr222Ser)
NM_000264.5(PTCH1):c.666T>A (p.Tyr222Ter) rs863224487
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile) rs1266754583
NM_000264.5(PTCH1):c.670T>C (p.Tyr224His)
NM_000264.5(PTCH1):c.672C>A (p.Tyr224Ter) rs1588614178
NM_000264.5(PTCH1):c.672C>T (p.Tyr224=) rs1588614178
NM_000264.5(PTCH1):c.676T>G (p.Cys226Gly)
NM_000264.5(PTCH1):c.680T>A (p.Leu227Ter) rs1841576850
NM_000264.5(PTCH1):c.681G>C (p.Leu227Phe)
NM_000264.5(PTCH1):c.681_684del (p.Ile228fs) rs1841576526
NM_000264.5(PTCH1):c.682A>C (p.Ile228Leu) rs2118465097
NM_000264.5(PTCH1):c.685A>G (p.Ile229Val) rs1841575695
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000264.5(PTCH1):c.690A>G (p.Thr230=) rs2118464335
NM_000264.5(PTCH1):c.691C>T (p.Pro231Ser) rs1564057856
NM_000264.5(PTCH1):c.692C>T (p.Pro231Leu)
NM_000264.5(PTCH1):c.694T>C (p.Leu232=)
NM_000264.5(PTCH1):c.700T>C (p.Cys234Arg)
NM_000264.5(PTCH1):c.701G>T (p.Cys234Phe) rs1060502299
NM_000264.5(PTCH1):c.702C>A (p.Cys234Ter)
NM_000264.5(PTCH1):c.702C>T (p.Cys234=)
NM_000264.5(PTCH1):c.707G>A (p.Trp236Ter) rs1841574026
NM_000264.5(PTCH1):c.708G>A (p.Trp236Ter) rs1060502287
NM_000264.5(PTCH1):c.709G>A (p.Glu237Lys) rs2118462668
NM_000264.5(PTCH1):c.711A>G (p.Glu237=) rs1588614118
NM_000264.5(PTCH1):c.714G>C (p.Gly238=)
NM_000264.5(PTCH1):c.715G>A (p.Ala239Thr) rs1841573078
NM_000264.5(PTCH1):c.715del (p.Ala239fs) rs1131690971
NM_000264.5(PTCH1):c.716C>T (p.Ala239Val)
NM_000264.5(PTCH1):c.721T>C (p.Leu241=) rs1554700612
NM_000264.5(PTCH1):c.722T>G (p.Leu241Ter) rs2118461277
NM_000264.5(PTCH1):c.723A>G (p.Leu241=) rs2118461122
NM_000264.5(PTCH1):c.724C>T (p.Gln242Ter) rs376353501
NM_000264.5(PTCH1):c.724_725del (p.Gln242fs) rs2118460945
NM_000264.5(PTCH1):c.725A>G (p.Gln242Arg)
NM_000264.5(PTCH1):c.726G>A (p.Gln242=)
NM_000264.5(PTCH1):c.733A>T (p.Thr245Ser) rs2118460143
NM_000264.5(PTCH1):c.734C>G (p.Thr245Arg) rs1841570436
NM_000264.5(PTCH1):c.740_746+1delinsT
NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter) rs1060502281
NM_000264.5(PTCH1):c.741_746+1del rs1554700574
NM_000264.5(PTCH1):c.742C>G (p.Leu248Val)
NM_000264.5(PTCH1):c.742C>T (p.Leu248Phe) rs1841568646
NM_000264.5(PTCH1):c.742dup (p.Leu248fs)
NM_000264.5(PTCH1):c.744C>G (p.Leu248=) rs2118458881
NM_000264.5(PTCH1):c.746+10T>A rs1554700563
NM_000264.5(PTCH1):c.746+11G>A
NM_000264.5(PTCH1):c.746+11G>C rs774992791
NM_000264.5(PTCH1):c.746+12A>T
NM_000264.5(PTCH1):c.746+13T>C rs1014606258
NM_000264.5(PTCH1):c.746+14C>G
NM_000264.5(PTCH1):c.746+1G>A
NM_000264.5(PTCH1):c.746+2T>G rs1841568184
NM_000264.5(PTCH1):c.746+2dup
NM_000264.5(PTCH1):c.746+3A>G rs1841567989
NM_000264.5(PTCH1):c.746+5G>C
NM_000264.5(PTCH1):c.746+6TG[4] rs770615351
NM_000264.5(PTCH1):c.746+9G>A
NM_000264.5(PTCH1):c.746del (p.Leu249fs) rs2118458606
NM_000264.5(PTCH1):c.747-12T>C
NM_000264.5(PTCH1):c.747-14A>G rs373907227
NM_000264.5(PTCH1):c.747-16C>T
NM_000264.5(PTCH1):c.747-17C>G rs1841460679
NM_000264.5(PTCH1):c.747-17C>T
NM_000264.5(PTCH1):c.747-19C>T rs555297981
NM_000264.5(PTCH1):c.747-1G>A rs2118429101
NM_000264.5(PTCH1):c.747-54_1261del
NM_000264.5(PTCH1):c.747-6T>C rs2118429284
NM_000264.5(PTCH1):c.747-9C>G
NM_000264.5(PTCH1):c.747-9del rs1841459388
NM_000264.5(PTCH1):c.748G>A (p.Gly250Ser)
NM_000264.5(PTCH1):c.751A>G (p.Lys251Glu) rs2118428694
NM_000264.5(PTCH1):c.752A>T (p.Lys251Ile)
NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg) rs1554700016
NM_000264.5(PTCH1):c.756T>A (p.Pro252=) rs2118428399
NM_000264.5(PTCH1):c.758del (p.Pro253fs)
NM_000264.5(PTCH1):c.759T>C (p.Pro253=) rs1588610513
NM_000264.5(PTCH1):c.763C>T (p.Arg255Trp) rs925067209
NM_000264.5(PTCH1):c.764G>T (p.Arg255Leu) rs779870576
NM_000264.5(PTCH1):c.765G>A (p.Arg255=)
NM_000264.5(PTCH1):c.765G>T (p.Arg255=) rs2118427794
NM_000264.5(PTCH1):c.765del (p.Trp256fs) rs2118427859
NM_000264.5(PTCH1):c.766_767del (p.Trp256fs)
NM_000264.5(PTCH1):c.767G>A (p.Trp256Ter) rs1554700010
NM_000264.5(PTCH1):c.768G>A (p.Trp256Ter)
NM_000264.5(PTCH1):c.768del (p.Arg255_Trp256insTer) rs1564055868
NM_000264.5(PTCH1):c.771A>G (p.Thr257=) rs2118427410
NM_000264.5(PTCH1):c.772A>G (p.Asn258Asp)
NM_000264.5(PTCH1):c.773del (p.Asn258fs)
NM_000264.5(PTCH1):c.774C>T (p.Asn258=)
NM_000264.5(PTCH1):c.775_778del (p.Phe259fs) rs2118427012
NM_000264.5(PTCH1):c.778G>C (p.Asp260His)
NM_000264.5(PTCH1):c.779A>C (p.Asp260Ala) rs368102115
NM_000264.5(PTCH1):c.780C>T (p.Asp260=) rs2118426797
NM_000264.5(PTCH1):c.781C>G (p.Pro261Ala)
NM_000264.5(PTCH1):c.781C>T (p.Pro261Ser)
NM_000264.5(PTCH1):c.783T>C (p.Pro261=) rs1554699996
NM_000264.5(PTCH1):c.783T>G (p.Pro261=) rs1554699996
NM_000264.5(PTCH1):c.784T>G (p.Leu262Val)
NM_000264.5(PTCH1):c.785T>C (p.Leu262Ser) rs1318134628
NM_000264.5(PTCH1):c.787G>A (p.Glu263Lys) rs1588610385
NM_000264.5(PTCH1):c.792C>T (p.Phe264=) rs2118425622
NM_000264.5(PTCH1):c.795G>A (p.Leu265=)
NM_000264.5(PTCH1):c.799G>A (p.Glu267Lys)
NM_000264.5(PTCH1):c.806A>G (p.Lys269Arg) rs1841454562
NM_000264.5(PTCH1):c.807G>A (p.Lys269=) rs2118423662
NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer) rs1131690969
NM_000264.5(PTCH1):c.808A>T (p.Lys270Ter) rs1588610324
NM_000264.5(PTCH1):c.811del (p.Lys270_Ile271insTer) rs2118423280
NM_000264.5(PTCH1):c.814A>G (p.Asn272Asp)
NM_000264.5(PTCH1):c.816_852del (p.Asn272fs) rs2118419579
NM_000264.5(PTCH1):c.820C>G (p.Gln274Glu) rs2118422378
NM_000264.5(PTCH1):c.822del (p.Val275fs) rs1554699964
NM_000264.5(PTCH1):c.825G>A (p.Val275=) rs2118421809
NM_000264.5(PTCH1):c.831C>T (p.Ser277=) rs773794742
NM_000264.5(PTCH1):c.832T>C (p.Trp278Arg)
NM_000264.5(PTCH1):c.834G>A (p.Trp278Ter) rs2118420718
NM_000264.5(PTCH1):c.838G>A (p.Glu280Lys)
NM_000264.5(PTCH1):c.838G>T (p.Glu280Ter)
NM_000264.5(PTCH1):c.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.852G>A (p.Lys284=) rs2118419496
NM_000264.5(PTCH1):c.855T>C (p.Ala285=)
NM_000264.5(PTCH1):c.855T>G (p.Ala285=) rs1060504539
NM_000264.5(PTCH1):c.856G>A (p.Glu286Lys) rs1841450226
NM_000264.5(PTCH1):c.857A>G (p.Glu286Gly)
NM_000264.5(PTCH1):c.861T>C (p.Val287=) rs2118418760
NM_000264.5(PTCH1):c.863G>A (p.Gly288Asp)
NM_000264.5(PTCH1):c.864T>C (p.Gly288=)
NM_000264.5(PTCH1):c.866A>G (p.His289Arg)
NM_000264.5(PTCH1):c.867T>C (p.His289=) rs1319404006
NM_000264.5(PTCH1):c.867_868dup (p.Gly290fs) rs2118418344
NM_000264.5(PTCH1):c.868G>A (p.Gly290Ser) rs2118418275
NM_000264.5(PTCH1):c.869G>A (p.Gly290Asp) rs864622130
NM_000264.5(PTCH1):c.872A>T (p.Tyr291Phe)
NM_000264.5(PTCH1):c.873C>G (p.Tyr291Ter) rs1564055606
NM_000264.5(PTCH1):c.873del (p.Gly290_Tyr291insTer) rs1564055612
NM_000264.5(PTCH1):c.874A>G (p.Met292Val) rs1588610088
NM_000264.5(PTCH1):c.875T>C (p.Met292Thr) rs748727674
NM_000264.5(PTCH1):c.876G>A (p.Met292Ile) rs776187586
NM_000264.5(PTCH1):c.880C>T (p.Arg294Cys) rs1841447254
NM_000264.5(PTCH1):c.881G>C (p.Arg294Pro) rs878853859
NM_000264.5(PTCH1):c.882C>A (p.Arg294=) rs145893445
NM_000264.5(PTCH1):c.885C>G (p.Pro295=)
NM_000264.5(PTCH1):c.886del (p.Cys296fs) rs1131690987
NM_000264.5(PTCH1):c.889C>T (p.Leu297Phe) rs1841445491
NM_000264.5(PTCH1):c.891C>G (p.Leu297=)
NM_000264.5(PTCH1):c.892A>C (p.Asn298His) rs1588609918
NM_000264.5(PTCH1):c.892A>G (p.Asn298Asp)
NM_000264.5(PTCH1):c.893A>T (p.Asn298Ile)
NM_000264.5(PTCH1):c.896C>A (p.Pro299Gln) rs141939274
NM_000264.5(PTCH1):c.897G>C (p.Pro299=) rs56141639
NM_000264.5(PTCH1):c.898G>T (p.Ala300Ser)
NM_000264.5(PTCH1):c.898del (p.Ala300fs)
NM_000264.5(PTCH1):c.899C>G (p.Ala300Gly)
NM_000264.5(PTCH1):c.900C>G (p.Ala300=) rs201962105
NM_000264.5(PTCH1):c.901G>T (p.Asp301Tyr) rs767601899
NM_000264.5(PTCH1):c.901_905del (p.Asp301fs)
NM_000264.5(PTCH1):c.903T>C (p.Asp301=)
NM_000264.5(PTCH1):c.904C>G (p.Pro302Ala) rs1197814180
NM_000264.5(PTCH1):c.906A>T (p.Pro302=)
NM_000264.5(PTCH1):c.907G>A (p.Asp303Asn)
NM_000264.5(PTCH1):c.910T>C (p.Cys304Arg)
NM_000264.5(PTCH1):c.912C>A (p.Cys304Ter) rs2118414186
NM_000264.5(PTCH1):c.915del (p.Ala306fs) rs2118413937
NM_000264.5(PTCH1):c.915dup (p.Ala306fs) rs2118413937
NM_000264.5(PTCH1):c.916G>T (p.Ala306Ser)
NM_000264.5(PTCH1):c.919A>G (p.Thr307Ala)
NM_000264.5(PTCH1):c.921A>G (p.Thr307=) rs763339917
NM_000264.5(PTCH1):c.921dup (p.Ala308fs) rs1554699837
NM_000264.5(PTCH1):c.923C>G (p.Ala308Gly) rs2118413122
NM_000264.5(PTCH1):c.927C>A (p.Pro309=)
NM_000264.5(PTCH1):c.929A>G (p.Asn310Ser) rs2118412532
NM_000264.5(PTCH1):c.930C>A (p.Asn310Lys)
NM_000264.5(PTCH1):c.930C>G (p.Asn310Lys)
NM_000264.5(PTCH1):c.937T>G (p.Ser313Ala)
NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter) rs1564055259
NM_000264.5(PTCH1):c.939A>G (p.Ser313=) rs1841439010
NM_000264.5(PTCH1):c.940A>G (p.Thr314Ala) rs2118411651
NM_000264.5(PTCH1):c.941C>A (p.Thr314Asn)
NM_000264.5(PTCH1):c.941_944del (p.Thr314fs)
NM_000264.5(PTCH1):c.943A>G (p.Lys315Glu) rs1564055253
NM_000264.5(PTCH1):c.945+12C>G rs2118409985
NM_000264.5(PTCH1):c.945+19C>A rs538776608
NM_000264.5(PTCH1):c.945+1G>A rs863224444
NM_000264.5(PTCH1):c.945+2T>G
NM_000264.5(PTCH1):c.945+2_945+8delinsCGCT rs1588609559
NM_000264.5(PTCH1):c.945+3G>A rs775144388
NM_000264.5(PTCH1):c.945+3_945+6del rs1064795637
NM_000264.5(PTCH1):c.945+4A>C rs1564055215
NM_000264.5(PTCH1):c.945+5G>C
NM_000264.5(PTCH1):c.945+6dup rs2118410569
NM_000264.5(PTCH1):c.945+8C>G
NM_000264.5(PTCH1):c.945+8C>T
NM_000264.5(PTCH1):c.945+9C>A
NM_000264.5(PTCH1):c.945+9C>G rs878853860
NM_000264.5(PTCH1):c.945del (p.Lys315fs)
NM_000264.5(PTCH1):c.946-11T>A
NM_000264.5(PTCH1):c.946-13C>G
NM_000264.5(PTCH1):c.946-14T>C
NM_000264.5(PTCH1):c.946-14T>G
NM_000264.5(PTCH1):c.946-18G>A rs1447732065
NM_000264.5(PTCH1):c.946-19G>A
NM_000264.5(PTCH1):c.946-5T>A rs1588608882
NM_000264.5(PTCH1):c.946-5T>C rs1588608882
NM_000264.5(PTCH1):c.946-6T>C
NM_000264.5(PTCH1):c.946-7A>T
NM_000264.5(PTCH1):c.946-8T>C rs202011325
NM_000264.5(PTCH1):c.947C>T (p.Pro316Leu) rs143813198
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe) rs1380199153
NM_000264.5(PTCH1):c.953A>T (p.Asp318Val)
NM_000264.5(PTCH1):c.954T>C (p.Asp318=)
NM_000264.5(PTCH1):c.955_956del (p.Met319fs) rs1841411687
NM_000264.5(PTCH1):c.958G>T (p.Ala320Ser) rs1554699658
NM_000264.5(PTCH1):c.959C>T (p.Ala320Val) rs2118395686
NM_000264.5(PTCH1):c.961del (p.Val322fs) rs1588608794
NM_000264.5(PTCH1):c.963T>C (p.Leu321=) rs1588608777
NM_000264.5(PTCH1):c.964G>A (p.Val322Ile)
NM_000264.5(PTCH1):c.964G>C (p.Val322Leu)
NM_000264.5(PTCH1):c.967T>A (p.Leu323Met) rs1358555059
NM_000264.5(PTCH1):c.970_976del (p.Asn324fs) rs1588608715
NM_000264.5(PTCH1):c.973G>A (p.Gly325Ser) rs1588608738
NM_000264.5(PTCH1):c.978A>C (p.Gly326=)
NM_000264.5(PTCH1):c.978A>T (p.Gly326=) rs2118394366
NM_000264.5(PTCH1):c.981T>C (p.Cys327=) rs2118394148
NM_000264.5(PTCH1):c.983A>T (p.His328Leu) rs1484111496
NM_000264.5(PTCH1):c.987C>T (p.Gly329=)
NM_000264.5(PTCH1):c.988T>G (p.Leu330Val) rs1841408486
NM_000264.5(PTCH1):c.992C>G (p.Ser331Cys) rs1841408288
NM_000264.5(PTCH1):c.995G>C (p.Arg332Thr) rs1564054690
NM_000264.5(PTCH1):c.998A>G (p.Lys333Arg)
NM_000264.5(PTCH1):c.998A>T (p.Lys333Met) rs1238175144
NM_000264.5(PTCH1):c.999G>C (p.Lys333Asn)
NM_001083603.3(PTCH1):c.179_180del (p.Lys60fs) rs1447209500
NM_001083603.3(PTCH1):c.198+468G>T rs1445378342
NM_001083603.3(PTCH1):c.4del (p.Glu2fs) rs752765582
NM_001083603.3(PTCH1):c.70_76del (p.Gly24fs)
NM_001083603.3(PTCH1):c.91del (p.Tyr31fs)
NM_001354918.2(PTCH1):c.1347+354_1347+357del

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