ClinVar Miner

List of variants in gene PTCH1 studied for Gorlin syndrome

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Gene type:
ClinVar version:
Total variants: 962
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HGVS dbSNP
GRCh37/hg19 9q22.32(chr9:98207091-98210940)x1
NM_000264.3(PTCH1):c.3168+763_4244del
NM_001083602.2(PTCH1):c.*1066A>C rs185406054
NM_001083602.2(PTCH1):c.*1075A>C rs1020973772
NM_001083602.2(PTCH1):c.*1220A>G rs930382710
NM_001083602.2(PTCH1):c.*1358G>A rs756098510
NM_001083602.2(PTCH1):c.*1373G>C rs16909865
NM_001083602.2(PTCH1):c.*1413C>G rs1057515714
NM_001083602.2(PTCH1):c.*1535T>C rs112320257
NM_001083602.2(PTCH1):c.*1545T>C rs113253600
NM_001083602.2(PTCH1):c.*1616A>C rs73540181
NM_001083602.2(PTCH1):c.*1648A>G rs1057515713
NM_001083602.2(PTCH1):c.*168C>A rs769353632
NM_001083602.2(PTCH1):c.*1702C>T rs115675849
NM_001083602.2(PTCH1):c.*1708C>T rs146131736
NM_001083602.2(PTCH1):c.*1709G>A rs73540175
NM_001083602.2(PTCH1):c.*1866_*1867TG[10] rs59205702
NM_001083602.2(PTCH1):c.*1866_*1867TG[12] rs59205702
NM_001083602.2(PTCH1):c.*186T>G rs977327674
NM_001083602.2(PTCH1):c.*1893_*1894GT[4] rs531572088
NM_001083602.2(PTCH1):c.*1896T>C rs949498288
NM_001083602.2(PTCH1):c.*1904T>C rs992648722
NM_001083602.2(PTCH1):c.*1905C>G rs113213198
NM_001083602.2(PTCH1):c.*2070C>G rs142942544
NM_001083602.2(PTCH1):c.*2146A>G rs538345753
NM_001083602.2(PTCH1):c.*2175G>A rs188061818
NM_001083602.2(PTCH1):c.*2275T>A rs28380046
NM_001083602.2(PTCH1):c.*2276A>T rs868749157
NM_001083602.2(PTCH1):c.*2288dup rs548096592
NM_001083602.2(PTCH1):c.*231T>C rs28401363
NM_001083602.2(PTCH1):c.*237G>C rs28688501
NM_001083602.2(PTCH1):c.*2644A>C rs773680534
NM_001083602.2(PTCH1):c.*2988_*2991TTGT[1] rs139748418
NM_001083602.2(PTCH1):c.*3030A>G rs28485160
NM_001083602.2(PTCH1):c.*3080G>T rs1006981555
NM_001083602.2(PTCH1):c.*3157G>A rs118174136
NM_001083602.2(PTCH1):c.*3209T>C rs757611119
NM_001083602.2(PTCH1):c.*3213T>C rs992312438
NM_001083602.2(PTCH1):c.*3232G>T rs357565
NM_001083602.2(PTCH1):c.*3272C>T rs963000528
NM_001083602.2(PTCH1):c.*3337T>C rs551093780
NM_001083602.2(PTCH1):c.*3341T>C rs138499623
NM_001083602.2(PTCH1):c.*556G>A rs964764151
NM_001083602.2(PTCH1):c.*623C>T rs776158552
NM_001083602.2(PTCH1):c.*664dup rs111365480
NM_001083602.2(PTCH1):c.*748_*749insACTT rs147342582
NM_001083602.2(PTCH1):c.*748_*749insATTT rs1554687587
NM_001083602.2(PTCH1):c.*780C>T rs75765727
NM_001083602.2(PTCH1):c.*801C>T rs114243832
NM_001083602.2(PTCH1):c.*851G>C rs73540186
NM_001083602.2(PTCH1):c.1000C>T (p.Gln334Ter)
NM_001083602.2(PTCH1):c.1008A>G (p.Thr336=) rs1234871751
NM_001083602.2(PTCH1):c.1008_1009AT[1] (p.Tyr337fs) rs1060502286
NM_001083602.2(PTCH1):c.1009T>C (p.Tyr337His) rs1349048226
NM_001083602.2(PTCH1):c.1011T>G (p.Tyr337Ter) rs1432645175
NM_001083602.2(PTCH1):c.1018-10G>A rs587780691
NM_001083602.2(PTCH1):c.1018-1G>A rs1564051834
NM_001083602.2(PTCH1):c.1018-6C>A rs186008764
NM_001083602.2(PTCH1):c.1020G>A (p.Val340=) rs753586235
NM_001083602.2(PTCH1):c.1027C>T (p.Gln343Ter)
NM_001083602.2(PTCH1):c.1036G>A (p.Ala346Thr) rs370354759
NM_001083602.2(PTCH1):c.1036G>T (p.Ala346Ser) rs370354759
NM_001083602.2(PTCH1):c.1040A>G (p.Gln347Arg)
NM_001083602.2(PTCH1):c.1048A>G (p.Thr350Ala) rs952195482
NM_001083602.2(PTCH1):c.1049C>G (p.Thr350Ser) rs201174718
NM_001083602.2(PTCH1):c.1049C>T (p.Thr350Ile) rs201174718
NM_001083602.2(PTCH1):c.1050T>C (p.Thr350=) rs863224345
NM_001083602.2(PTCH1):c.1050T>G (p.Thr350=) rs863224345
NM_001083602.2(PTCH1):c.1052A>G (p.Gln351Arg) rs1060502270
NM_001083602.2(PTCH1):c.1059G>A (p.Val353=) rs1060504535
NM_001083602.2(PTCH1):c.1064C>T (p.Ser355Phe) rs1285775586
NM_001083602.2(PTCH1):c.1076C>T (p.Thr359Met) rs768956985
NM_001083602.2(PTCH1):c.1077G>A (p.Thr359=) rs150837425
NM_001083602.2(PTCH1):c.1079C>T (p.Thr360Ile) rs755787454
NM_001083602.2(PTCH1):c.1085A>G (p.Asp362Gly) rs1554698835
NM_001083602.2(PTCH1):c.1087G>A (p.Asp363Asn) rs377546733
NM_001083602.2(PTCH1):c.1088A>G (p.Asp363Gly)
NM_001083602.2(PTCH1):c.1093C>G (p.Leu365Val)
NM_001083602.2(PTCH1):c.1094T>C (p.Leu365Pro) rs1564051512
NM_001083602.2(PTCH1):c.1098A>T (p.Lys366Asn) rs1564051490
NM_001083602.2(PTCH1):c.10G>A (p.Ala4Thr) rs753960393
NM_001083602.2(PTCH1):c.1101C>A (p.Ser367=) rs1366832439
NM_001083602.2(PTCH1):c.1107T>A (p.Ser369=) rs1554698806
NM_001083602.2(PTCH1):c.1108G>A (p.Asp370Asn) rs142274954
NM_001083602.2(PTCH1):c.1109dup (p.Asp370fs) rs1554698800
NM_001083602.2(PTCH1):c.1110C>A (p.Asp370Glu) rs148471237
NM_001083602.2(PTCH1):c.1110C>T (p.Asp370=) rs148471237
NM_001083602.2(PTCH1):c.1110del (p.Asp370fs) rs1060502295
NM_001083602.2(PTCH1):c.1120A>G (p.Ile374Val) rs752530755
NM_001083602.2(PTCH1):c.1124G>A (p.Arg375His) rs767273237
NM_001083602.2(PTCH1):c.1125C>T (p.Arg375=) rs1060504540
NM_001083602.2(PTCH1):c.1126G>A (p.Val376Met) rs759493890
NM_001083602.2(PTCH1):c.1130C>G (p.Ala377Gly)
NM_001083602.2(PTCH1):c.1130C>T (p.Ala377Val) rs878853845
NM_001083602.2(PTCH1):c.1131del (p.Ser378fs) rs864622374
NM_001083602.2(PTCH1):c.1133G>A (p.Ser378Asn)
NM_001083602.2(PTCH1):c.1134C>A (p.Ser378Arg)
NM_001083602.2(PTCH1):c.1134C>T (p.Ser378=) rs373930674
NM_001083602.2(PTCH1):c.1144C>A (p.Leu382Ile) rs537871675
NM_001083602.2(PTCH1):c.1144_1147del (p.Leu382fs) rs1564051237
NM_001083602.2(PTCH1):c.1147_1149del (p.Met383del) rs1554698774
NM_001083602.2(PTCH1):c.1149+10G>A rs370916305
NM_001083602.2(PTCH1):c.1149+5C>T rs567257548
NM_001083602.2(PTCH1):c.1149+6G>A rs372655486
NM_001083602.2(PTCH1):c.1149+9C>T rs775905392
NM_001083602.2(PTCH1):c.1150-14_1172del rs1554698613
NM_001083602.2(PTCH1):c.1150-4G>A rs772826555
NM_001083602.2(PTCH1):c.1153G>A (p.Ala385Thr) rs142791675
NM_001083602.2(PTCH1):c.1155C>G (p.Ala385=) rs754741810
NM_001083602.2(PTCH1):c.1155_1158dup (p.Ala387fs) rs1564050405
NM_001083602.2(PTCH1):c.1166dup (p.Thr390fs)
NM_001083602.2(PTCH1):c.117C>G (p.Gly39=) rs1060504542
NM_001083602.2(PTCH1):c.119T>G (p.Leu40Arg) rs1131690998
NM_001083602.2(PTCH1):c.11C>T (p.Ala4Val) rs764137082
NM_001083602.2(PTCH1):c.1206C>T (p.Ala402=) rs201246004
NM_001083602.2(PTCH1):c.120C>T (p.Leu40=) rs1805153
NM_001083602.2(PTCH1):c.1210G>A (p.Gly404Arg) rs1564050210
NM_001083602.2(PTCH1):c.1214_1217TGGC[1] (p.Gly407fs) rs1564050178
NM_001083602.2(PTCH1):c.1216G>T (p.Ala406Ser) rs899465701
NM_001083602.2(PTCH1):c.1220_1234del (p.Gly407_Val411del) rs1554698582
NM_001083602.2(PTCH1):c.1222G>A (p.Val408Ile) rs766898310
NM_001083602.2(PTCH1):c.1233T>C (p.Val411=) rs147162848
NM_001083602.2(PTCH1):c.1263G>A (p.Leu421=) rs1398912905
NM_001083602.2(PTCH1):c.1269A>G (p.Ser423=) rs747623182
NM_001083602.2(PTCH1):c.126A>G (p.Ile42Met) rs144182921
NM_001083602.2(PTCH1):c.1275C>G (p.Ile425Met) rs768183391
NM_001083602.2(PTCH1):c.1275C>T (p.Ile425=) rs768183391
NM_001083602.2(PTCH1):c.1278A>G (p.Gly426=) rs1057515720
NM_001083602.2(PTCH1):c.1282T>G (p.Ser428Ala) rs1057515719
NM_001083602.2(PTCH1):c.1287del (p.Phe429fs) rs1554698531
NM_001083602.2(PTCH1):c.128T>C (p.Phe43Ser)
NM_001083602.2(PTCH1):c.1290C>T (p.Asn430=) rs577742581
NM_001083602.2(PTCH1):c.1291G>A (p.Ala431Thr) rs1398130707
NM_001083602.2(PTCH1):c.1293T>C (p.Ala431=) rs1060504538
NM_001083602.2(PTCH1):c.1304A>G (p.Gln435Arg) rs863225054
NM_001083602.2(PTCH1):c.1305+12G>A rs368083214
NM_001083602.2(PTCH1):c.1305+1G>C rs864622293
NM_001083602.2(PTCH1):c.1305+3A>G rs878853846
NM_001083602.2(PTCH1):c.1305G>C (p.Gln435His) rs1085307511
NM_001083602.2(PTCH1):c.1306-8T>C rs2277184
NM_001083602.2(PTCH1):c.1313C>A (p.Pro438Gln)
NM_001083602.2(PTCH1):c.131G>C (p.Gly44Ala) rs1060502284
NM_001083602.2(PTCH1):c.1321G>A (p.Ala441Thr) rs745669155
NM_001083602.2(PTCH1):c.1326T>C (p.Leu442=) rs778837458
NM_001083602.2(PTCH1):c.1328G>A (p.Gly443Asp) rs1060502268
NM_001083602.2(PTCH1):c.1333G>C (p.Gly445Arg)
NM_001083602.2(PTCH1):c.1340A>T (p.Asp447Val) rs1564048907
NM_001083602.2(PTCH1):c.1348T>G (p.Phe450Val) rs1554698288
NM_001083602.2(PTCH1):c.1353T>C (p.Leu451=) rs983687905
NM_001083602.2(PTCH1):c.1357_1358delinsTA (p.Ala453Tyr) rs1554698275
NM_001083602.2(PTCH1):c.135C>T (p.Ala45=) rs863224351
NM_001083602.2(PTCH1):c.1362C>T (p.His454=) rs952270018
NM_001083602.2(PTCH1):c.1363G>A (p.Ala455Thr)
NM_001083602.2(PTCH1):c.1364C>T (p.Ala455Val) rs755139183
NM_001083602.2(PTCH1):c.1370G>C (p.Ser457Thr)
NM_001083602.2(PTCH1):c.1385dup (p.Asn462fs) rs1554698258
NM_001083602.2(PTCH1):c.1387A>G (p.Lys463Glu) rs780434261
NM_001083602.2(PTCH1):c.1393_1403del (p.Ile465fs) rs863225055
NM_001083602.2(PTCH1):c.1394T>C (p.Ile465Thr) rs1227526379
NM_001083602.2(PTCH1):c.1395C>T (p.Ile465=) rs587780694
NM_001083602.2(PTCH1):c.1400T>C (p.Phe467Ser) rs1318015818
NM_001083602.2(PTCH1):c.1404+15_1404+17del rs528001004
NM_001083602.2(PTCH1):c.1404+1G>A
NM_001083602.2(PTCH1):c.1404+1G>T rs1060502277
NM_001083602.2(PTCH1):c.1404+8A>G rs1554698205
NM_001083602.2(PTCH1):c.1405-2A>G rs1064793921
NM_001083602.2(PTCH1):c.1417del (p.Glu473fs) rs878853847
NM_001083602.2(PTCH1):c.1427A>G (p.Lys476Arg)
NM_001083602.2(PTCH1):c.1427dup (p.Arg477fs)
NM_001083602.2(PTCH1):c.1430G>A (p.Arg477His) rs150284288
NM_001083602.2(PTCH1):c.1431C>G (p.Arg477=) rs557468315
NM_001083602.2(PTCH1):c.1431C>T (p.Arg477=) rs557468315
NM_001083602.2(PTCH1):c.1442G>T (p.Ser481Ile) rs1564047095
NM_001083602.2(PTCH1):c.1443C>T (p.Ser481=) rs2066830
NM_001083602.2(PTCH1):c.1444G>A (p.Val482Met)
NM_001083602.2(PTCH1):c.144G>A (p.Val48=) rs766365142
NM_001083602.2(PTCH1):c.1453dup (p.Thr485fs) rs1554697928
NM_001083602.2(PTCH1):c.1454C>T (p.Thr485Met) rs863224649
NM_001083602.2(PTCH1):c.1455G>A (p.Thr485=) rs766039170
NM_001083602.2(PTCH1):c.1462A>T (p.Ser488Cys) rs1060502282
NM_001083602.2(PTCH1):c.1463G>A (p.Ser488Asn) rs148367880
NM_001083602.2(PTCH1):c.1466A>G (p.Asn489Ser) rs181192122
NM_001083602.2(PTCH1):c.1467T>C (p.Asn489=) rs1805155
NM_001083602.2(PTCH1):c.1481T>C (p.Phe494Ser) rs1564046809
NM_001083602.2(PTCH1):c.1488C>T (p.Ala496=) rs2066836
NM_001083602.2(PTCH1):c.148T>C (p.Leu50=) rs576398790
NM_001083602.2(PTCH1):c.1491G>A (p.Ala497=) rs371757261
NM_001083602.2(PTCH1):c.1491G>C (p.Ala497=) rs371757261
NM_001083602.2(PTCH1):c.1497C>G (p.Ile499Met) rs1564046738
NM_001083602.2(PTCH1):c.14C>T (p.Thr5Ile) rs529720410
NM_001083602.2(PTCH1):c.1506C>T (p.Pro502=) rs912977281
NM_001083602.2(PTCH1):c.1506del (p.Ala503fs) rs776154605
NM_001083602.2(PTCH1):c.1508C>A (p.Ala503Asp)
NM_001083602.2(PTCH1):c.1511_1523del (p.Leu504fs) rs1554697839
NM_001083602.2(PTCH1):c.1512G>T (p.Leu504=) rs374924167
NM_001083602.2(PTCH1):c.1515G>T (p.Arg505=) rs762575636
NM_001083602.2(PTCH1):c.1516G>T (p.Ala506Ser)
NM_001083602.2(PTCH1):c.1518G>A (p.Ala506=) rs55844310
NM_001083602.2(PTCH1):c.1530+6C>A rs761805788
NM_001083602.2(PTCH1):c.1530+7T>C rs776735470
NM_001083602.2(PTCH1):c.1530+8T>G rs864622243
NM_001083602.2(PTCH1):c.1530+9C>T rs1060504541
NM_001083602.2(PTCH1):c.15T>C (p.Thr5=) rs1457697349
NM_001083602.2(PTCH1):c.163C>T (p.Leu55Phe) rs776424978
NM_001083602.2(PTCH1):c.168G>C (p.Glu56Asp) rs1479871006
NM_001083602.2(PTCH1):c.174C>G (p.Asn58Lys) rs763779667
NM_001083602.2(PTCH1):c.189G>A (p.Trp63Ter)
NM_001083602.2(PTCH1):c.190G>A (p.Val64Met) rs746339472
NM_001083602.2(PTCH1):c.193G>A (p.Glu65Lys)
NM_001083602.2(PTCH1):c.196+10C>T rs755119764
NM_001083602.2(PTCH1):c.196+2dup
NM_001083602.2(PTCH1):c.197-1G>A rs368869806
NM_001083602.2(PTCH1):c.197-9A>G rs781395697
NM_001083602.2(PTCH1):c.19C>T (p.Arg7Trp) rs751511116
NM_001083602.2(PTCH1):c.205C>T (p.Arg69Ter) rs1131690986
NM_001083602.2(PTCH1):c.206G>A (p.Arg69Gln) rs375628555
NM_001083602.2(PTCH1):c.209dup (p.Ser71fs) rs1564063386
NM_001083602.2(PTCH1):c.214C>T (p.Arg72Cys) rs139535966
NM_001083602.2(PTCH1):c.215G>A (p.Arg72His) rs763774051
NM_001083602.2(PTCH1):c.222A>G (p.Leu74=) rs372559495
NM_001083602.2(PTCH1):c.232C>T (p.Arg78Cys) rs587780705
NM_001083602.2(PTCH1):c.233G>A (p.Arg78His) rs1316474105
NM_001083602.2(PTCH1):c.235C>T (p.Gln79Ter) rs1554702186
NM_001083602.2(PTCH1):c.2363-10C>A rs763935951
NM_001083602.2(PTCH1):c.2363-10C>T rs763935951
NM_001083602.2(PTCH1):c.2363-2A>G rs878853852
NM_001083602.2(PTCH1):c.2363-2A>T rs878853852
NM_001083602.2(PTCH1):c.2363-7T>C rs112140654
NM_001083602.2(PTCH1):c.2397C>T (p.Thr799=) rs144512837
NM_001083602.2(PTCH1):c.2399G>A (p.Gly800Glu) rs863224651
NM_001083602.2(PTCH1):c.2408T>A (p.Met803Lys)
NM_001083602.2(PTCH1):c.2412A>C (p.Pro804=) rs762087413
NM_001083602.2(PTCH1):c.241A>G (p.Ile81Val) rs1564063300
NM_001083602.2(PTCH1):c.2421C>G (p.Tyr807Ter) rs1554692291
NM_001083602.2(PTCH1):c.242T>C (p.Ile81Thr)
NM_001083602.2(PTCH1):c.2436C>A (p.Asp812Glu) rs771732591
NM_001083602.2(PTCH1):c.2436C>T (p.Asp812=) rs771732591
NM_001083602.2(PTCH1):c.2437G>A (p.Asp813Asn) rs750373573
NM_001083602.2(PTCH1):c.2441del (p.Gly814fs) rs1554692266
NM_001083602.2(PTCH1):c.2473G>A (p.Gly825Ser) rs570091335
NM_001083602.2(PTCH1):c.2478C>G (p.Ser826Arg) rs1427672162
NM_001083602.2(PTCH1):c.2479C>T (p.Arg827Cys)
NM_001083602.2(PTCH1):c.2480G>A (p.Arg827His) rs138154222
NM_001083602.2(PTCH1):c.2481C>T (p.Arg827=) rs752658093
NM_001083602.2(PTCH1):c.2482G>A (p.Asp828Asn) rs56173896
NM_001083602.2(PTCH1):c.2491A>G (p.Ile831Val) rs758483793
NM_001083602.2(PTCH1):c.2494G>A (p.Asp832Asn) rs531947455
NM_001083602.2(PTCH1):c.2497A>G (p.Ile833Val) rs765371196
NM_001083602.2(PTCH1):c.2505+6C>G
NM_001083602.2(PTCH1):c.2506-10G>A rs566679986
NM_001083602.2(PTCH1):c.2506-3T>C rs1208489068
NM_001083602.2(PTCH1):c.2506-4G>A rs864622248
NM_001083602.2(PTCH1):c.2506-5T>C rs1023491715
NM_001083602.2(PTCH1):c.2506-6T>C rs182321370
NM_001083602.2(PTCH1):c.250G>T (p.Glu84Ter) rs1344258746
NM_001083602.2(PTCH1):c.2510C>G (p.Thr837Ser) rs1564021882
NM_001083602.2(PTCH1):c.2515C>A (p.Gln839Lys) rs864622088
NM_001083602.2(PTCH1):c.2519G>A (p.Arg840His)
NM_001083602.2(PTCH1):c.2527G>C (p.Asp843His)
NM_001083602.2(PTCH1):c.253G>T (p.Ala85Ser) rs751024812
NM_001083602.2(PTCH1):c.2541C>A (p.Ile847=) rs1305314328
NM_001083602.2(PTCH1):c.2549C>T (p.Pro850Leu)
NM_001083602.2(PTCH1):c.2553C>T (p.Ser851=) rs768127089
NM_001083602.2(PTCH1):c.2563A>G (p.Ile855Val) rs760174192
NM_001083602.2(PTCH1):c.2565C>G (p.Ile855Met) rs1564021738
NM_001083602.2(PTCH1):c.2568C>T (p.Tyr856=) rs1554691698
NM_001083602.2(PTCH1):c.2569C>T (p.Leu857=) rs1554691697
NM_001083602.2(PTCH1):c.256_257del (p.Met86fs) rs1060502280
NM_001083602.2(PTCH1):c.2584A>G (p.Ser862Gly) rs786204224
NM_001083602.2(PTCH1):c.2585G>C (p.Ser862Thr) rs1554691690
NM_001083602.2(PTCH1):c.2589C>T (p.Asn863=) rs145196322
NM_001083602.2(PTCH1):c.2590G>A (p.Asp864Asn)
NM_001083602.2(PTCH1):c.2594C>G (p.Pro865Arg) rs772928587
NM_001083602.2(PTCH1):c.2596G>A (p.Val866Ile) rs376084632
NM_001083602.2(PTCH1):c.2598C>A (p.Val866=) rs747931365
NM_001083602.2(PTCH1):c.2599G>A (p.Ala867Thr) rs373120584
NM_001083602.2(PTCH1):c.2600C>T (p.Ala867Val)
NM_001083602.2(PTCH1):c.2601G>A (p.Ala867=) rs111446700
NM_001083602.2(PTCH1):c.2601del (p.Tyr868fs) rs863224484
NM_001083602.2(PTCH1):c.2604T>G (p.Tyr868Ter) rs1356231878
NM_001083602.2(PTCH1):c.2608G>T (p.Ala870Ser)
NM_001083602.2(PTCH1):c.2614C>G (p.Gln872Glu)
NM_001083602.2(PTCH1):c.2616G>A (p.Gln872=) rs587780534
NM_001083602.2(PTCH1):c.2620A>G (p.Asn874Asp) rs1564021422
NM_001083602.2(PTCH1):c.2628G>A (p.Arg876=) rs934070764
NM_001083602.2(PTCH1):c.2636G>A (p.Arg879Gln) rs201118857
NM_001083602.2(PTCH1):c.2641G>C (p.Glu881Gln)
NM_001083602.2(PTCH1):c.2644_2651del (p.Trp882fs) rs863224485
NM_001083602.2(PTCH1):c.265C>T (p.Pro89Ser) rs369105527
NM_001083602.2(PTCH1):c.2661C>T (p.Ala887=) rs142131559
NM_001083602.2(PTCH1):c.2662G>A (p.Asp888Asn) rs772662871
NM_001083602.2(PTCH1):c.2668A>G (p.Met890Val) rs587780699
NM_001083602.2(PTCH1):c.2678C>T (p.Thr893Ile)
NM_001083602.2(PTCH1):c.2689+10G>A rs202081420
NM_001083602.2(PTCH1):c.2689+4A>G
NM_001083602.2(PTCH1):c.2690-8C>T rs567994836
NM_001083602.2(PTCH1):c.2691C>G (p.Ile897Met) rs878853853
NM_001083602.2(PTCH1):c.2693C>T (p.Pro898Leu) rs377120922
NM_001083602.2(PTCH1):c.2694G>A (p.Pro898=) rs377213209
NM_001083602.2(PTCH1):c.2706C>G (p.Pro902=) rs1554691433
NM_001083602.2(PTCH1):c.270A>C (p.Gln90His)
NM_001083602.2(PTCH1):c.270A>G (p.Gln90=) rs200729445
NM_001083602.2(PTCH1):c.2710G>A (p.Glu904Lys) rs1201956507
NM_001083602.2(PTCH1):c.2715T>C (p.Tyr905=) rs2229062
NM_001083602.2(PTCH1):c.2721G>T (p.Gln907His) rs1564019804
NM_001083602.2(PTCH1):c.2730C>G (p.Phe910Leu)
NM_001083602.2(PTCH1):c.2731T>C (p.Tyr911His) rs587780700
NM_001083602.2(PTCH1):c.2733_2734insGTAGA (p.Leu912fs) rs1554691423
NM_001083602.2(PTCH1):c.2735T>C (p.Leu912Pro) rs863224652
NM_001083602.2(PTCH1):c.2737A>C (p.Asn913His)
NM_001083602.2(PTCH1):c.2738A>G (p.Asn913Ser) rs758907408
NM_001083602.2(PTCH1):c.2739C>T (p.Asn913=) rs58629309
NM_001083602.2(PTCH1):c.2740G>A (p.Gly914Ser)
NM_001083602.2(PTCH1):c.2747G>A (p.Arg916Gln) rs145924695
NM_001083602.2(PTCH1):c.2751C>T (p.Asp917=) rs1204950098
NM_001083602.2(PTCH1):c.2756C>T (p.Ser919Leu) rs760297274
NM_001083602.2(PTCH1):c.2757A>C (p.Ser919=) rs1060504532
NM_001083602.2(PTCH1):c.2767G>A (p.Glu923Lys)
NM_001083602.2(PTCH1):c.2767G>T (p.Glu923Ter)
NM_001083602.2(PTCH1):c.2776G>T (p.Glu926Ter) rs1060502278
NM_001083602.2(PTCH1):c.277A>G (p.Ile93Val) rs1060502288
NM_001083602.2(PTCH1):c.2782G>A (p.Val928Ile)
NM_001083602.2(PTCH1):c.2790C>T (p.Thr930=) rs759501618
NM_001083602.2(PTCH1):c.2791A>G (p.Ile931Val) rs774440323
NM_001083602.2(PTCH1):c.2805T>A (p.Tyr935Ter) rs1060502298
NM_001083602.2(PTCH1):c.2807C>T (p.Thr936Met) rs769924767
NM_001083602.2(PTCH1):c.2808G>A (p.Thr936=) rs142362404
NM_001083602.2(PTCH1):c.2810G>A (p.Ser937Asn) rs769866360
NM_001083602.2(PTCH1):c.2812C>G (p.Leu938Val) rs864622620
NM_001083602.2(PTCH1):c.2813T>G (p.Leu938Arg) rs1564019538
NM_001083602.2(PTCH1):c.281A>G (p.Gln94Arg) rs1060502267
NM_001083602.2(PTCH1):c.2820G>A (p.Leu940=) rs863224350
NM_001083602.2(PTCH1):c.2825G>T (p.Ser942Ile)
NM_001083602.2(PTCH1):c.2829C>T (p.Tyr943=) rs747234651
NM_001083602.2(PTCH1):c.2834A>G (p.Asn945Ser)
NM_001083602.2(PTCH1):c.2842C>G (p.Pro948Ala)
NM_001083602.2(PTCH1):c.2843C>T (p.Pro948Leu) rs1404012576
NM_001083602.2(PTCH1):c.2848C>T (p.Leu950Phe)
NM_001083602.2(PTCH1):c.2865C>T (p.Tyr955=) rs777191105
NM_001083602.2(PTCH1):c.2866A>C (p.Ile956Leu)
NM_001083602.2(PTCH1):c.2868C>T (p.Ile956=) rs755755175
NM_001083602.2(PTCH1):c.2869G>A (p.Gly957Ser) rs752317944
NM_001083602.2(PTCH1):c.2876G>A (p.Arg959His) rs370150142
NM_001083602.2(PTCH1):c.2902G>A (p.Val968Met) rs760902564
NM_001083602.2(PTCH1):c.290_292AAG[2] (p.Glu99del) rs1201611173
NM_001083602.2(PTCH1):c.2925C>A (p.Leu975=) rs1554691356
NM_001083602.2(PTCH1):c.2925C>T (p.Leu975=) rs1554691356
NM_001083602.2(PTCH1):c.2926G>A (p.Val976Met) rs772406487
NM_001083602.2(PTCH1):c.2927dup (p.Cys977fs) rs1554691354
NM_001083602.2(PTCH1):c.2932G>A (p.Ala978Thr) rs138458710
NM_001083602.2(PTCH1):c.2934T>C (p.Ala978=) rs1166490973
NM_001083602.2(PTCH1):c.2938T>A (p.Phe980Ile) rs1564019097
NM_001083602.2(PTCH1):c.2943T>G (p.Leu981=) rs2066835
NM_001083602.2(PTCH1):c.2949C>G (p.Asn983Lys)
NM_001083602.2(PTCH1):c.2951C>T (p.Pro984Leu) rs1420175816
NM_001083602.2(PTCH1):c.2952C>T (p.Pro984=) rs149398794
NM_001083602.2(PTCH1):c.2953T>G (p.Trp985Gly) rs1564019039
NM_001083602.2(PTCH1):c.2954G>A (p.Trp985Ter) rs1060502301
NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met) rs138911275
NM_001083602.2(PTCH1):c.2961C>T (p.Ala987=) rs780700622
NM_001083602.2(PTCH1):c.2970+2T>C rs786204056
NM_001083602.2(PTCH1):c.2970+5G>A
NM_001083602.2(PTCH1):c.2971-1G>A rs1060502285
NM_001083602.2(PTCH1):c.2971-5T>C rs367654039
NM_001083602.2(PTCH1):c.2985G>A (p.Ala995=) rs878853854
NM_001083602.2(PTCH1):c.2993C>T (p.Thr998Met) rs368417828
NM_001083602.2(PTCH1):c.2997C>T (p.Val999=) rs370936145
NM_001083602.2(PTCH1):c.3006C>G (p.Phe1002Leu) rs762419846
NM_001083602.2(PTCH1):c.3006C>T (p.Phe1002=) rs762419846
NM_001083602.2(PTCH1):c.3008G>T (p.Gly1003Val)
NM_001083602.2(PTCH1):c.3010A>G (p.Met1004Val) rs768302786
NM_001083602.2(PTCH1):c.301G>A (p.Ala101Thr) rs149547604
NM_001083602.2(PTCH1):c.3021C>T (p.Leu1007=) rs771814170
NM_001083602.2(PTCH1):c.3022A>G (p.Ile1008Val)
NM_001083602.2(PTCH1):c.3027A>T (p.Gly1009=) rs757101018
NM_001083602.2(PTCH1):c.302C>A (p.Ala101Asp) rs587780707
NM_001083602.2(PTCH1):c.3035T>C (p.Leu1012Pro) rs1554691033
NM_001083602.2(PTCH1):c.3041C>T (p.Ala1014Val) rs781188522
NM_001083602.2(PTCH1):c.3042C>T (p.Ala1014=) rs200347952
NM_001083602.2(PTCH1):c.3043G>A (p.Val1015Met) rs587778629
NM_001083602.2(PTCH1):c.3048C>T (p.Pro1016=) rs750725851
NM_001083602.2(PTCH1):c.3049G>A (p.Val1017Met) rs202052415
NM_001083602.2(PTCH1):c.3053T>C (p.Val1018Ala) rs1463935039
NM_001083602.2(PTCH1):c.3064G>A (p.Ala1022Thr) rs150217389
NM_001083602.2(PTCH1):c.3085G>C (p.Glu1029Gln)
NM_001083602.2(PTCH1):c.3089dup (p.Thr1031fs)
NM_001083602.2(PTCH1):c.3093C>T (p.Thr1031=) rs141016655
NM_001083602.2(PTCH1):c.3094G>A (p.Val1032Ile) rs748726158
NM_001083602.2(PTCH1):c.3095T>C (p.Val1032Ala) rs1291842090
NM_001083602.2(PTCH1):c.3097C>G (p.His1033Asp)
NM_001083602.2(PTCH1):c.30G>A (p.Pro10=) rs140542305
NM_001083602.2(PTCH1):c.3100G>A (p.Val1034Ile) rs577110118
NM_001083602.2(PTCH1):c.3106T>G (p.Leu1036Val) rs1554690984
NM_001083602.2(PTCH1):c.3108+5G>A rs587780701
NM_001083602.2(PTCH1):c.3108G>A (p.Leu1036=) rs1564017035
NM_001083602.2(PTCH1):c.3109-7T>C rs878853855
NM_001083602.2(PTCH1):c.3114T>A (p.Phe1038Leu) rs1554690489
NM_001083602.2(PTCH1):c.3119C>T (p.Thr1040Met) rs769691754
NM_001083602.2(PTCH1):c.3120G>A (p.Thr1040=) rs942699337
NM_001083602.2(PTCH1):c.3124A>G (p.Ile1042Val) rs866037881
NM_001083602.2(PTCH1):c.3130G>C (p.Asp1044His)
NM_001083602.2(PTCH1):c.3140G>A (p.Arg1047His) rs143781513
NM_001083602.2(PTCH1):c.3142A>C (p.Arg1048=) rs587776689
NM_001083602.2(PTCH1):c.3148G>A (p.Val1050Met) rs201605273
NM_001083602.2(PTCH1):c.3149T>A (p.Val1050Glu) rs863224653
NM_001083602.2(PTCH1):c.314C>T (p.Thr105Ile) rs1554702106
NM_001083602.2(PTCH1):c.3156C>G (p.Ala1052=) rs1554690459
NM_001083602.2(PTCH1):c.3166_3167del (p.Met1056fs) rs1060502273
NM_001083602.2(PTCH1):c.3174A>T (p.Ala1058=) rs756638660
NM_001083602.2(PTCH1):c.3177C>T (p.Pro1059=) rs369760318
NM_001083602.2(PTCH1):c.3178G>A (p.Val1060Ile) rs147025073
NM_001083602.2(PTCH1):c.3189C>T (p.Gly1063=) rs28446339
NM_001083602.2(PTCH1):c.3190G>A (p.Ala1064Thr) rs766037357
NM_001083602.2(PTCH1):c.3192C>T (p.Ala1064=) rs762637887
NM_001083602.2(PTCH1):c.3193G>A (p.Val1065Met) rs566619057
NM_001083602.2(PTCH1):c.3196T>C (p.Ser1066Pro) rs878853856
NM_001083602.2(PTCH1):c.3197C>T (p.Ser1066Phe)
NM_001083602.2(PTCH1):c.3224C>T (p.Ala1075Val) rs376844749
NM_001083602.2(PTCH1):c.3225G>A (p.Ala1075=) rs745948150
NM_001083602.2(PTCH1):c.3230_3231del (p.Gly1076_Ser1077insTer) rs1554690411
NM_001083602.2(PTCH1):c.3231T>C (p.Ser1077=) rs778900289
NM_001083602.2(PTCH1):c.3237C>T (p.Phe1079=) rs200435277
NM_001083602.2(PTCH1):c.3238G>A (p.Asp1080Asn) rs749542089
NM_001083602.2(PTCH1):c.323C>T (p.Ala108Val) rs772368023
NM_001083602.2(PTCH1):c.3244A>G (p.Ile1082Val) rs369265532
NM_001083602.2(PTCH1):c.3251+1G>A rs863224442
NM_001083602.2(PTCH1):c.3251+7A>T rs374907800
NM_001083602.2(PTCH1):c.3251+9G>A rs1554690376
NM_001083602.2(PTCH1):c.3252-1G>A
NM_001083602.2(PTCH1):c.3252-2A>G rs863224443
NM_001083602.2(PTCH1):c.3252-2_3285del
NM_001083602.2(PTCH1):c.3262G>A (p.Ala1088Thr) rs878853857
NM_001083602.2(PTCH1):c.3262G>C (p.Ala1088Pro) rs878853857
NM_001083602.2(PTCH1):c.3262del (p.Ala1088fs) rs1060502264
NM_001083602.2(PTCH1):c.3265G>T (p.Val1089Leu)
NM_001083602.2(PTCH1):c.3278T>C (p.Leu1093Pro)
NM_001083602.2(PTCH1):c.327C>T (p.Leu109=) rs1554702079
NM_001083602.2(PTCH1):c.3288C>T (p.Leu1096=) rs1554689696
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083602.2(PTCH1):c.3290G>T (p.Gly1097Val) rs864622120
NM_001083602.2(PTCH1):c.3290del (p.Gly1097fs) rs1564009755
NM_001083602.2(PTCH1):c.3292G>A (p.Val1098Ile)
NM_001083602.2(PTCH1):c.330_332ACA[1] (p.Gln111del) rs864622108
NM_001083602.2(PTCH1):c.3318C>T (p.Pro1106=) rs775292833
NM_001083602.2(PTCH1):c.3319G>A (p.Val1107Met)
NM_001083602.2(PTCH1):c.3329C>G (p.Ser1110Cys) rs864622160
NM_001083602.2(PTCH1):c.3331T>G (p.Phe1111Val) rs772200521
NM_001083602.2(PTCH1):c.3333C>T (p.Phe1111=) rs587780702
NM_001083602.2(PTCH1):c.3342A>G (p.Pro1114=) rs930364103
NM_001083602.2(PTCH1):c.3342_3345delinsTCC (p.Tyr1115fs) rs1554689667
NM_001083602.2(PTCH1):c.3343T>C (p.Tyr1115His) rs367784268
NM_001083602.2(PTCH1):c.3346C>G (p.Pro1116Ala) rs1259037941
NM_001083602.2(PTCH1):c.3351+10G>C rs587780703
NM_001083602.2(PTCH1):c.3352-9C>G rs1410226185
NM_001083602.2(PTCH1):c.3366C>T (p.Asn1122=) rs864622621
NM_001083602.2(PTCH1):c.3367G>A (p.Gly1123Ser)
NM_001083602.2(PTCH1):c.3367G>C (p.Gly1123Arg)
NM_001083602.2(PTCH1):c.3367G>T (p.Gly1123Cys)
NM_001083602.2(PTCH1):c.3369C>T (p.Gly1123=) rs62637630
NM_001083602.2(PTCH1):c.3375C>T (p.Asn1125=) rs773389781
NM_001083602.2(PTCH1):c.3376C>T (p.Arg1126Cys)
NM_001083602.2(PTCH1):c.3377G>A (p.Arg1126His) rs762040036
NM_001083602.2(PTCH1):c.3377G>T (p.Arg1126Leu) rs762040036
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3386C>T (p.Thr1129Ile)
NM_001083602.2(PTCH1):c.3392C>G (p.Ser1131Cys)
NM_001083602.2(PTCH1):c.3394C>T (p.Pro1132Ser) rs1280830531
NM_001083602.2(PTCH1):c.3395C>G (p.Pro1132Arg) rs1564008924
NM_001083602.2(PTCH1):c.3407C>G (p.Pro1136Arg) rs374097441
NM_001083602.2(PTCH1):c.3408C>G (p.Pro1136=) rs138240178
NM_001083602.2(PTCH1):c.3408C>T (p.Pro1136=) rs138240178
NM_001083602.2(PTCH1):c.3409A>C (p.Ser1137Arg) rs1564008885
NM_001083602.2(PTCH1):c.340G>C (p.Asp114His) rs1554702067
NM_001083602.2(PTCH1):c.3411C>T (p.Ser1137=) rs200843188
NM_001083602.2(PTCH1):c.3412G>A (p.Val1138Met) rs370675945
NM_001083602.2(PTCH1):c.3418C>T (p.Arg1140Cys) rs772537644
NM_001083602.2(PTCH1):c.3419G>A (p.Arg1140His) rs560967532
NM_001083602.2(PTCH1):c.3424G>A (p.Ala1142Thr) rs945517672
NM_001083602.2(PTCH1):c.3424G>T (p.Ala1142Ser) rs945517672
NM_001083602.2(PTCH1):c.3426C>A (p.Ala1142=) rs149691476
NM_001083602.2(PTCH1):c.3426C>T (p.Ala1142=) rs149691476
NM_001083602.2(PTCH1):c.3431C>T (p.Pro1144Leu) rs781062564
NM_001083602.2(PTCH1):c.3432G>A (p.Pro1144=) rs926583525
NM_001083602.2(PTCH1):c.3433C>T (p.Pro1145Ser) rs139495263
NM_001083602.2(PTCH1):c.3435C>G (p.Pro1145=) rs56007343
NM_001083602.2(PTCH1):c.3435C>T (p.Pro1145=) rs56007343
NM_001083602.2(PTCH1):c.3436G>A (p.Gly1146Ser) rs559827048
NM_001083602.2(PTCH1):c.3438C>T (p.Gly1146=) rs751560737
NM_001083602.2(PTCH1):c.3441C>T (p.His1147=) rs761797443
NM_001083602.2(PTCH1):c.3442A>G (p.Thr1148Ala) rs1564008713
NM_001083602.2(PTCH1):c.3443C>T (p.Thr1148Met) rs200029534
NM_001083602.2(PTCH1):c.3444G>A (p.Thr1148=) rs143974523
NM_001083602.2(PTCH1):c.3445C>A (p.His1149Asn) rs1554689404
NM_001083602.2(PTCH1):c.3447C>T (p.His1149=) rs760927638
NM_001083602.2(PTCH1):c.3450C>T (p.Ser1150=) rs377608291
NM_001083602.2(PTCH1):c.3451G>A (p.Gly1151Arg)
NM_001083602.2(PTCH1):c.345G>A (p.Ser115=) rs1461606997
NM_001083602.2(PTCH1):c.3465C>G (p.Ser1155=) rs369771223
NM_001083602.2(PTCH1):c.3466G>A (p.Asp1156Asn)
NM_001083602.2(PTCH1):c.3468C>T (p.Asp1156=) rs777377921
NM_001083602.2(PTCH1):c.3470C>T (p.Ser1157Leu)
NM_001083602.2(PTCH1):c.3471G>A (p.Ser1157=) rs780515178
NM_001083602.2(PTCH1):c.3477T>A (p.Tyr1159Ter)
NM_001083602.2(PTCH1):c.347C>T (p.Ala116Val) rs567721919
NM_001083602.2(PTCH1):c.3488C>T (p.Thr1163Met) rs781080456
NM_001083602.2(PTCH1):c.3489G>A (p.Thr1163=) rs139123130
NM_001083602.2(PTCH1):c.3494T>C (p.Val1165Ala) rs182045135
NM_001083602.2(PTCH1):c.3494_3495inv (p.Val1165Ala)
NM_001083602.2(PTCH1):c.3507C>T (p.Ser1169=) rs1051927200
NM_001083602.2(PTCH1):c.3517C>T (p.Arg1173Trp)
NM_001083602.2(PTCH1):c.3518G>A (p.Arg1173Gln) rs758728491
NM_001083602.2(PTCH1):c.3518G>C (p.Arg1173Pro)
NM_001083602.2(PTCH1):c.3525C>T (p.Tyr1175=) rs750745538
NM_001083602.2(PTCH1):c.3526G>A (p.Glu1176Lys)
NM_001083602.2(PTCH1):c.3536A>G (p.Gln1179Arg) rs767792734
NM_001083602.2(PTCH1):c.3539G>A (p.Gly1180Asp)
NM_001083602.2(PTCH1):c.3540C>T (p.Gly1180=) rs771308724
NM_001083602.2(PTCH1):c.3541G>A (p.Ala1181Thr) rs369966295
NM_001083602.2(PTCH1):c.3543G>A (p.Ala1181=) rs772544302
NM_001083602.2(PTCH1):c.3545G>A (p.Gly1182Glu) rs375857496
NM_001083602.2(PTCH1):c.3545G>C (p.Gly1182Ala) rs375857496
NM_001083602.2(PTCH1):c.354G>T (p.Gln118His) rs369893129
NM_001083602.2(PTCH1):c.3550C>T (p.Pro1184Ser) rs1060502265
NM_001083602.2(PTCH1):c.3554C>A (p.Ala1185Asp) rs747739936
NM_001083602.2(PTCH1):c.3556C>G (p.His1186Asp) rs780990429
NM_001083602.2(PTCH1):c.3560A>G (p.Gln1187Arg)
NM_001083602.2(PTCH1):c.3567C>A (p.Ile1189=) rs758229027
NM_001083602.2(PTCH1):c.3568G>A (p.Val1190Met) rs150850039
NM_001083602.2(PTCH1):c.3571G>A (p.Glu1191Lys)
NM_001083602.2(PTCH1):c.357C>T (p.Ala119=) rs1197767332
NM_001083602.2(PTCH1):c.3586C>T (p.Pro1196Ser) rs970679518
NM_001083602.2(PTCH1):c.3588C>T (p.Pro1196=) rs756182319
NM_001083602.2(PTCH1):c.3589G>A (p.Val1197Ile) rs752831580
NM_001083602.2(PTCH1):c.358A>G (p.Ser120Gly) rs1564062769
NM_001083602.2(PTCH1):c.3595G>A (p.Ala1199Thr) rs759791227
NM_001083602.2(PTCH1):c.3598C>T (p.His1200Tyr)
NM_001083602.2(PTCH1):c.3605C>G (p.Thr1202Ser) rs1554689262
NM_001083602.2(PTCH1):c.3606+2dup
NM_001083602.2(PTCH1):c.3606+6T>G rs1298248967
NM_001083602.2(PTCH1):c.3606T>C (p.Thr1202=) rs951501624
NM_001083602.2(PTCH1):c.3607-4G>A rs1060504537
NM_001083602.2(PTCH1):c.3607-8C>T rs1056411006
NM_001083602.2(PTCH1):c.3607-9C>T rs2236404
NM_001083602.2(PTCH1):c.3611T>C (p.Val1204Ala)
NM_001083602.2(PTCH1):c.3613C>T (p.His1205Tyr) rs1554688752
NM_001083602.2(PTCH1):c.3616C>T (p.Pro1206Ser)
NM_001083602.2(PTCH1):c.3618C>A (p.Pro1206=)
NM_001083602.2(PTCH1):c.3618C>T (p.Pro1206=) rs369295226
NM_001083602.2(PTCH1):c.3619G>A (p.Glu1207Lys) rs749244396
NM_001083602.2(PTCH1):c.361C>T (p.Arg121Cys) rs1554702047
NM_001083602.2(PTCH1):c.3628C>G (p.His1210Asp) rs786204190
NM_001083602.2(PTCH1):c.362G>A (p.Arg121His)
NM_001083602.2(PTCH1):c.3632A>G (p.His1211Arg) rs755092661
NM_001083602.2(PTCH1):c.3637C>T (p.Pro1213Ser)
NM_001083602.2(PTCH1):c.3638C>T (p.Pro1213Leu) rs747128318
NM_001083602.2(PTCH1):c.3641C>T (p.Ser1214Leu) rs201595274
NM_001083602.2(PTCH1):c.3647C>T (p.Pro1216Leu) rs2227968
NM_001083602.2(PTCH1):c.3648G>A (p.Pro1216=) rs754412168
NM_001083602.2(PTCH1):c.3660C>T (p.Pro1220=) rs1222530728
NM_001083602.2(PTCH1):c.3662_3709del (p.His1221_Pro1236del) rs1064792957
NM_001083602.2(PTCH1):c.3664C>G (p.Leu1222Val)
NM_001083602.2(PTCH1):c.3669C>T (p.Asp1223=) rs587780704
NM_001083602.2(PTCH1):c.3678C>T (p.Ser1226=) rs752197356
NM_001083602.2(PTCH1):c.3685C>T (p.Pro1229Ser) rs1060502275
NM_001083602.2(PTCH1):c.3687C>T (p.Pro1229=) rs267602323
NM_001083602.2(PTCH1):c.3688G>C (p.Gly1230Arg)
NM_001083602.2(PTCH1):c.3691C>T (p.Arg1231Trp) rs372027952
NM_001083602.2(PTCH1):c.3692G>A (p.Arg1231Gln) rs386833412
NM_001083602.2(PTCH1):c.3698G>A (p.Gly1233Asp)
NM_001083602.2(PTCH1):c.369T>C (p.His123=) rs150759973
NM_001083602.2(PTCH1):c.3709C>T (p.Arg1237Cys) rs56102979
NM_001083602.2(PTCH1):c.3710G>A (p.Arg1237His) rs779365332
NM_001083602.2(PTCH1):c.3710G>T (p.Arg1237Leu) rs779365332
NM_001083602.2(PTCH1):c.3714G>T (p.Arg1238Ser) rs757702954
NM_001083602.2(PTCH1):c.3715G>A (p.Asp1239Asn) rs368528885
NM_001083602.2(PTCH1):c.3715G>T (p.Asp1239Tyr) rs368528885
NM_001083602.2(PTCH1):c.3717C>A (p.Asp1239Glu) rs786204201
NM_001083602.2(PTCH1):c.3719C>A (p.Pro1240His) rs864622483
NM_001083602.2(PTCH1):c.3721C>T (p.Pro1241Ser) rs574880967
NM_001083602.2(PTCH1):c.3722C>G (p.Pro1241Arg)
NM_001083602.2(PTCH1):c.3722C>T (p.Pro1241Leu) rs181585555
NM_001083602.2(PTCH1):c.3726A>G (p.Arg1242=) rs762725821
NM_001083602.2(PTCH1):c.3731G>A (p.Gly1244Asp)
NM_001083602.2(PTCH1):c.3735G>T (p.Leu1245Phe)
NM_001083602.2(PTCH1):c.3742C>T (p.Pro1248Ser) rs574856671
NM_001083602.2(PTCH1):c.3743C>T (p.Pro1248Leu)
NM_001083602.2(PTCH1):c.3745_3746delinsTT (p.Pro1249Phe)
NM_001083602.2(PTCH1):c.3746C>A (p.Pro1249His) rs357564
NM_001083602.2(PTCH1):c.3746C>T (p.Pro1249Leu) rs357564
NM_001083602.2(PTCH1):c.3749A>G (p.Tyr1250Cys) rs147067171
NM_001083602.2(PTCH1):c.3750C>T (p.Tyr1250=) rs778029634
NM_001083602.2(PTCH1):c.3751A>G (p.Arg1251Gly)
NM_001083602.2(PTCH1):c.3755C>G (p.Pro1252Arg) rs536440590
NM_001083602.2(PTCH1):c.3755C>T (p.Pro1252Leu) rs536440590
NM_001083602.2(PTCH1):c.3756G>A (p.Pro1252=) rs45529536
NM_001083602.2(PTCH1):c.3757C>T (p.Arg1253Cys) rs375998275
NM_001083602.2(PTCH1):c.3758G>A (p.Arg1253His) rs572658914
NM_001083602.2(PTCH1):c.3758G>T (p.Arg1253Leu) rs572658914
NM_001083602.2(PTCH1):c.3762A>G (p.Arg1254=) rs371761874
NM_001083602.2(PTCH1):c.3765C>T (p.Asp1255=) rs139071993
NM_001083602.2(PTCH1):c.3767C>T (p.Ala1256Val)
NM_001083602.2(PTCH1):c.3777T>A (p.Ile1259=) rs45504199
NM_001083602.2(PTCH1):c.3779C>T (p.Ser1260Phe) rs764964224
NM_001083602.2(PTCH1):c.3791A>G (p.His1264Arg) rs1564005652
NM_001083602.2(PTCH1):c.3794C>G (p.Ser1265Cys) rs150373546
NM_001083602.2(PTCH1):c.3794C>T (p.Ser1265Phe) rs150373546
NM_001083602.2(PTCH1):c.37C>A (p.Leu13Met) rs1564088372
NM_001083602.2(PTCH1):c.3802_3825dup (p.Ser1268_Pro1275dup)
NM_001083602.2(PTCH1):c.3803G>A (p.Ser1268Asn) rs200620662
NM_001083602.2(PTCH1):c.3803G>C (p.Ser1268Thr)
NM_001083602.2(PTCH1):c.3814C>T (p.Arg1272Cys) rs374346190
NM_001083602.2(PTCH1):c.3815G>A (p.Arg1272His) rs771238114
NM_001083602.2(PTCH1):c.3816_3836del (p.Trp1273_Arg1279del) rs774819810
NM_001083602.2(PTCH1):c.381C>A (p.Tyr127Ter) rs1333346461
NM_001083602.2(PTCH1):c.3826C>T (p.Arg1276Cys) rs781539921
NM_001083602.2(PTCH1):c.3827G>A (p.Arg1276His) rs575146278
NM_001083602.2(PTCH1):c.3828C>T (p.Arg1276=) rs576944494
NM_001083602.2(PTCH1):c.3829G>A (p.Gly1277Arg) rs200100952
NM_001083602.2(PTCH1):c.3832G>T (p.Ala1278Ser) rs765017975
NM_001083602.2(PTCH1):c.3833C>T (p.Ala1278Val) rs1060502289
NM_001083602.2(PTCH1):c.3835C>T (p.Arg1279Cys) rs556901417
NM_001083602.2(PTCH1):c.3836G>A (p.Arg1279His) rs766315655
NM_001083602.2(PTCH1):c.3839C>T (p.Ser1280Phe) rs1554688418
NM_001083602.2(PTCH1):c.3843C>A (p.His1281Gln) rs774524114
NM_001083602.2(PTCH1):c.3843C>T (p.His1281=) rs774524114
NM_001083602.2(PTCH1):c.3844A>G (p.Asn1282Asp) rs766576144
NM_001083602.2(PTCH1):c.3845A>G (p.Asn1282Ser) rs371943557
NM_001083602.2(PTCH1):c.3848C>T (p.Pro1283Leu) rs773298544
NM_001083602.2(PTCH1):c.3850C>T (p.Arg1284Trp) rs140417636
NM_001083602.2(PTCH1):c.3851G>A (p.Arg1284Gln)
NM_001083602.2(PTCH1):c.3853A>G (p.Asn1285Asp) rs786204103
NM_001083602.2(PTCH1):c.3855C>A (p.Asn1285Lys) rs1564005341
NM_001083602.2(PTCH1):c.386+10G>A rs765713791
NM_001083602.2(PTCH1):c.386+6G>A rs1282207631
NM_001083602.2(PTCH1):c.3860C>T (p.Ala1287Val)
NM_001083602.2(PTCH1):c.3861G>A (p.Ala1287=) rs368110756
NM_001083602.2(PTCH1):c.3865A>G (p.Thr1289Ala) rs864622456
NM_001083602.2(PTCH1):c.3866C>T (p.Thr1289Ile)
NM_001083602.2(PTCH1):c.386G>C (p.Arg129Thr) rs1554702009
NM_001083602.2(PTCH1):c.387-1G>C rs1057520590
NM_001083602.2(PTCH1):c.3871A>T (p.Met1291Leu) rs757909121
NM_001083602.2(PTCH1):c.3882C>T (p.Ser1294=) rs62637631
NM_001083602.2(PTCH1):c.3883G>A (p.Val1295Met) rs753535745
NM_001083602.2(PTCH1):c.3888C>T (p.Pro1296=) rs375588552
NM_001083602.2(PTCH1):c.3889G>A (p.Gly1297Ser) rs767625820
NM_001083602.2(PTCH1):c.3889G>C (p.Gly1297Arg)
NM_001083602.2(PTCH1):c.3896G>A (p.Cys1299Tyr) rs1397510746
NM_001083602.2(PTCH1):c.3897C>T (p.Cys1299=) rs864622569
NM_001083602.2(PTCH1):c.3917C>T (p.Thr1306Met) rs765348942
NM_001083602.2(PTCH1):c.3918G>A (p.Thr1306=) rs776937004
NM_001083602.2(PTCH1):c.3918G>T (p.Thr1306=) rs776937004
NM_001083602.2(PTCH1):c.391T>C (p.Trp131Arg) rs1312950307
NM_001083602.2(PTCH1):c.3925G>T (p.Ala1309Ser) rs769022340
NM_001083602.2(PTCH1):c.392G>A (p.Trp131Ter) rs1064793922
NM_001083602.2(PTCH1):c.3930C>T (p.Ser1310=) rs142148876
NM_001083602.2(PTCH1):c.3931G>A (p.Val1311Met)
NM_001083602.2(PTCH1):c.3936T>C (p.Thr1312=) rs775499386
NM_001083602.2(PTCH1):c.3939C>T (p.Val1313=) rs149091602
NM_001083602.2(PTCH1):c.3940G>A (p.Ala1314Thr)
NM_001083602.2(PTCH1):c.3940G>C (p.Ala1314Pro)
NM_001083602.2(PTCH1):c.3940G>T (p.Ala1314Ser)
NM_001083602.2(PTCH1):c.3942C>T (p.Ala1314=) rs752595145
NM_001083602.2(PTCH1):c.3943G>A (p.Val1315Met) rs187104739
NM_001083602.2(PTCH1):c.3943G>T (p.Val1315Leu)
NM_001083602.2(PTCH1):c.3946C>T (p.His1316Tyr) rs377484697
NM_001083602.2(PTCH1):c.3948C>G (p.His1316Gln)
NM_001083602.2(PTCH1):c.3950C>T (p.Pro1317Leu) rs571030658
NM_001083602.2(PTCH1):c.3951G>A (p.Pro1317=) rs56230654
NM_001083602.2(PTCH1):c.3953C>T (p.Pro1318Leu)
NM_001083602.2(PTCH1):c.3954G>A (p.Pro1318=) rs761887390
NM_001083602.2(PTCH1):c.3962C>T (p.Pro1321Leu)
NM_001083602.2(PTCH1):c.3962_3967CTGGGC[3] (p.1321_1322PG[3]) rs1060502272
NM_001083602.2(PTCH1):c.3964G>A (p.Gly1322Arg) rs587778631
NM_001083602.2(PTCH1):c.3969T>A (p.Pro1323=) rs531218594
NM_001083602.2(PTCH1):c.396A>G (p.Lys132=) rs1341335793
NM_001083602.2(PTCH1):c.3970G>C (p.Gly1324Arg)
NM_001083602.2(PTCH1):c.3972G>A (p.Gly1324=) rs201118928
NM_001083602.2(PTCH1):c.3973C>T (p.Arg1325Trp) rs45535032
NM_001083602.2(PTCH1):c.3974G>A (p.Arg1325Gln) rs773676486
NM_001083602.2(PTCH1):c.3978C>T (p.Asn1326=) rs770479209
NM_001083602.2(PTCH1):c.3980C>G (p.Pro1327Arg) rs1368334005
NM_001083602.2(PTCH1):c.3982C>T (p.Arg1328Ter) rs1297685477
NM_001083602.2(PTCH1):c.3983G>A (p.Arg1328Gln) rs748812637
NM_001083602.2(PTCH1):c.3985G>A (p.Gly1329Arg) rs375626922
NM_001083602.2(PTCH1):c.3987G>A (p.Gly1329=) rs769616992
NM_001083602.2(PTCH1):c.3988G>A (p.Gly1330Arg) rs1060502276
NM_001083602.2(PTCH1):c.398T>G (p.Leu133Trp) rs767791358
NM_001083602.2(PTCH1):c.3993C>G (p.Leu1331=) rs754826635
NM_001083602.2(PTCH1):c.3993C>T (p.Leu1331=) rs754826635
NM_001083602.2(PTCH1):c.4-1553C>T rs751905115
NM_001083602.2(PTCH1):c.4-1559G>T rs1394306522
NM_001083602.2(PTCH1):c.4-1565C>T rs1355794957
NM_001083602.2(PTCH1):c.4-1574G>C
NM_001083602.2(PTCH1):c.4-1582G>A rs150069331
NM_001083602.2(PTCH1):c.4-1589C>T rs368563182
NM_001083602.2(PTCH1):c.4-1590C>T
NM_001083602.2(PTCH1):c.4-1605C>G
NM_001083602.2(PTCH1):c.4-1605C>T rs372546614
NM_001083602.2(PTCH1):c.4-1608G>A
NM_001083602.2(PTCH1):c.4-1614T>C rs1019888019
NM_001083602.2(PTCH1):c.4-1616T>C rs141976046
NM_001083602.2(PTCH1):c.4-1617A>G rs774156512
NM_001083602.2(PTCH1):c.4-1617A>T rs774156512
NM_001083602.2(PTCH1):c.4-1621G>A
NM_001083602.2(PTCH1):c.4-1621G>T rs745685305
NM_001083602.2(PTCH1):c.4-1622G>C rs587780693
NM_001083602.2(PTCH1):c.4-1623G>T rs775408408
NM_001083602.2(PTCH1):c.4-1624C>G rs138729094
NM_001083602.2(PTCH1):c.4-1624C>T rs138729094
NM_001083602.2(PTCH1):c.4-1626A>C
NM_001083602.2(PTCH1):c.4-1627G>C
NM_001083602.2(PTCH1):c.4-1629C>G rs587780692
NM_001083602.2(PTCH1):c.4-1634C>T rs763200358
NM_001083602.2(PTCH1):c.4-1638C>G rs1030446889
NM_001083602.2(PTCH1):c.4-1640T>C rs368070922
NM_001083602.2(PTCH1):c.4-1641G>T rs1554709493
NM_001083602.2(PTCH1):c.4-1642C>A rs1554709496
NM_001083602.2(PTCH1):c.4-1642C>T rs1554709496
NM_001083602.2(PTCH1):c.4-1649del rs751977093
NM_001083602.2(PTCH1):c.4-1650G>A rs143494325
NM_001083602.2(PTCH1):c.4-1650G>C rs143494325
NM_001083602.2(PTCH1):c.4-1650G>T rs143494325
NM_001083602.2(PTCH1):c.4-1651G>A
NM_001083602.2(PTCH1):c.4-1653G>A
NM_001083602.2(PTCH1):c.4-1654G>C rs199976372
NM_001083602.2(PTCH1):c.4-1654G>T rs199976372
NM_001083602.2(PTCH1):c.4-1659G>A rs587778627
NM_001083602.2(PTCH1):c.4-1662G>A rs771847879
NM_001083602.2(PTCH1):c.4-1662G>C rs771847879
NM_001083602.2(PTCH1):c.4-1672G>A rs768512190
NM_001083602.2(PTCH1):c.4-1684C>T rs1245076183
NM_001083602.2(PTCH1):c.4-1686G>T
NM_001083602.2(PTCH1):c.4-1687C>T
NM_001083602.2(PTCH1):c.4-1689G>A
NM_001083602.2(PTCH1):c.4-1689G>C rs774712511
NM_001083602.2(PTCH1):c.4-1692C>T
NM_001083602.2(PTCH1):c.4-1695C>T rs761204245
NM_001083602.2(PTCH1):c.4-1696G>A rs863224654
NM_001083602.2(PTCH1):c.4-16_29del rs1554708795
NM_001083602.2(PTCH1):c.4-1700C>T rs1284183739
NM_001083602.2(PTCH1):c.4-1702A>C rs756724967
NM_001083602.2(PTCH1):c.4-1707G>T rs587780708
NM_001083602.2(PTCH1):c.4-1711A>G
NM_001083602.2(PTCH1):c.4-1711_4-1706dup rs1554709549
NM_001083602.2(PTCH1):c.4-1715C>T rs587780706
NM_001083602.2(PTCH1):c.4-1717G>A rs1057515721
NM_001083602.2(PTCH1):c.4-1720_4-1712del rs756897237
NM_001083602.2(PTCH1):c.4-1722G>A rs1564091998
NM_001083602.2(PTCH1):c.4-1723G>A rs1233426743
NM_001083602.2(PTCH1):c.4-1723GGC[5] rs756897237
NM_001083602.2(PTCH1):c.4-1723GGC[6] rs756897237
NM_001083602.2(PTCH1):c.4-1726C>G rs779791579
NM_001083602.2(PTCH1):c.4-1727C>A
NM_001083602.2(PTCH1):c.4-1736G>A rs1354741081
NM_001083602.2(PTCH1):c.4-1743C>G rs1564092028
NM_001083602.2(PTCH1):c.4-1743C>T rs1564092028
NM_001083602.2(PTCH1):c.4-1745C>T rs878853848
NM_001083602.2(PTCH1):c.4-1747A>G
NM_001083602.2(PTCH1):c.4-1749G>C rs864622762
NM_001083602.2(PTCH1):c.4-1752C>G rs540045689
NM_001083602.2(PTCH1):c.4-1752C>T
NM_001083602.2(PTCH1):c.4-1755C>G
NM_001083602.2(PTCH1):c.4-1786GGC[3] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[4] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[6] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[8] rs71366293
NM_001083602.2(PTCH1):c.4-1840G>A rs572958276
NM_001083602.2(PTCH1):c.4-2A>G rs878853849
NM_001083602.2(PTCH1):c.4-6C>T rs779129066
NM_001083602.2(PTCH1):c.4-8G>A rs750693438
NM_001083602.2(PTCH1):c.4001G>A (p.Gly1334Asp) rs786204094
NM_001083602.2(PTCH1):c.4002C>T (p.Gly1334=) rs1554688167
NM_001083602.2(PTCH1):c.4012A>G (p.Thr1338Ala) rs201873008
NM_001083602.2(PTCH1):c.4014T>C (p.Thr1338=) rs139086753
NM_001083602.2(PTCH1):c.4020C>T (p.His1340=) rs372558350
NM_001083602.2(PTCH1):c.4021G>A (p.Gly1341Ser) rs56161606
NM_001083602.2(PTCH1):c.4030G>A (p.Glu1344Lys) rs1554688143
NM_001083602.2(PTCH1):c.4032G>A (p.Glu1344=) rs774528758
NM_001083602.2(PTCH1):c.4032_4033insACTGAG (p.Asp1345_Pro1346insThrGlu) rs1434554186
NM_001083602.2(PTCH1):c.4036C>G (p.Pro1346Ala) rs1554688130
NM_001083602.2(PTCH1):c.4037C>T (p.Pro1346Leu)
NM_001083602.2(PTCH1):c.4038C>G (p.Pro1346=) rs369083374
NM_001083602.2(PTCH1):c.4038C>T (p.Pro1346=) rs369083374
NM_001083602.2(PTCH1):c.4041C>T (p.His1347=) rs375040845
NM_001083602.2(PTCH1):c.4042G>A (p.Val1348Met) rs149667902
NM_001083602.2(PTCH1):c.4048T>C (p.Phe1350Leu) rs1554688102
NM_001083602.2(PTCH1):c.404del (p.His135fs) rs1554700742
NM_001083602.2(PTCH1):c.4051C>A (p.His1351Asn)
NM_001083602.2(PTCH1):c.4053C>T (p.His1351=) rs371960721
NM_001083602.2(PTCH1):c.4054G>A (p.Val1352Ile) rs369882883
NM_001083602.2(PTCH1):c.4057C>T (p.Arg1353Trp)
NM_001083602.2(PTCH1):c.4058G>A (p.Arg1353Gln) rs372686352
NM_001083602.2(PTCH1):c.4060T>C (p.Cys1354Arg) rs864622068
NM_001083602.2(PTCH1):c.4066A>G (p.Arg1356Gly) rs1246323077
NM_001083602.2(PTCH1):c.4076C>T (p.Ser1359Leu) rs587778630
NM_001083602.2(PTCH1):c.4077G>A (p.Ser1359=) rs756270271
NM_001083602.2(PTCH1):c.4082T>C (p.Val1361Ala) rs1060502283
NM_001083602.2(PTCH1):c.4090A>G (p.Ile1364Val)
NM_001083602.2(PTCH1):c.4091T>C (p.Ile1364Thr) rs556722778
NM_001083602.2(PTCH1):c.4098G>T (p.Leu1366=) rs1554688070
NM_001083602.2(PTCH1):c.4100A>T (p.Gln1367Leu) rs772802013
NM_001083602.2(PTCH1):c.4104C>T (p.Asp1368=) rs201357130
NM_001083602.2(PTCH1):c.410G>A (p.Cys137Tyr) rs1261920867
NM_001083602.2(PTCH1):c.4113C>G (p.Cys1371Trp)
NM_001083602.2(PTCH1):c.4113C>T (p.Cys1371=) rs368571026
NM_001083602.2(PTCH1):c.4114G>A (p.Glu1372Lys)
NM_001083602.2(PTCH1):c.4115A>G (p.Glu1372Gly) rs150696398
NM_001083602.2(PTCH1):c.4120A>G (p.Arg1374Gly) rs1564004291
NM_001083602.2(PTCH1):c.4123C>T (p.Pro1375Ser) rs746800536
NM_001083602.2(PTCH1):c.4126C>T (p.Arg1376Trp) rs143464326
NM_001083602.2(PTCH1):c.4127G>A (p.Arg1376Gln) rs56023271
NM_001083602.2(PTCH1):c.4127G>T (p.Arg1376Leu) rs56023271
NM_001083602.2(PTCH1):c.4130G>T (p.Gly1377Val) rs864622100
NM_001083602.2(PTCH1):c.4136G>A (p.Ser1379Asn)
NM_001083602.2(PTCH1):c.4142A>G (p.Asn1381Ser) rs972576439
NM_001083602.2(PTCH1):c.414C>G (p.Tyr138Ter) rs863224486
NM_001083602.2(PTCH1):c.417del (p.Lys139fs) rs1554700720
NM_001083602.2(PTCH1):c.426G>A (p.Glu142=) rs777231059
NM_001083602.2(PTCH1):c.429del (p.Ile144fs) rs1564058222
NM_001083602.2(PTCH1):c.447C>T (p.Tyr149=) rs878853858
NM_001083602.2(PTCH1):c.448A>G (p.Met150Val) rs587780709
NM_001083602.2(PTCH1):c.454dup (p.Gln152fs) rs1564058147
NM_001083602.2(PTCH1):c.456+9T>C rs1554700690
NM_001083602.2(PTCH1):c.468T>A (p.Tyr156Ter) rs863224487
NM_001083602.2(PTCH1):c.47A>G (p.Lys16Arg)
NM_001083602.2(PTCH1):c.491C>T (p.Thr164Ile) rs1554700630
NM_001083602.2(PTCH1):c.493C>T (p.Pro165Ser) rs1564057856
NM_001083602.2(PTCH1):c.49T>C (p.Phe17Leu) rs1263611523
NM_001083602.2(PTCH1):c.503G>T (p.Cys168Phe) rs1060502299
NM_001083602.2(PTCH1):c.510G>A (p.Trp170Ter) rs1060502287
NM_001083602.2(PTCH1):c.519G>A (p.Ala173=) rs775723196
NM_001083602.2(PTCH1):c.523T>C (p.Leu175=) rs1554700612
NM_001083602.2(PTCH1):c.529T>C (p.Ser177Pro) rs372422922
NM_001083602.2(PTCH1):c.530C>T (p.Ser177Phe)
NM_001083602.2(PTCH1):c.537A>G (p.Thr179=) rs1805154
NM_001083602.2(PTCH1):c.53_60del (p.Gln18fs)
NM_001083602.2(PTCH1):c.543C>A (p.Tyr181Ter) rs1060502281
NM_001083602.2(PTCH1):c.543_548+1del rs1554700574
NM_001083602.2(PTCH1):c.548+10T>A rs1554700563
NM_001083602.2(PTCH1):c.549-54_1063del
NM_001083602.2(PTCH1):c.54G>A (p.Gln18=) rs587780698
NM_001083602.2(PTCH1):c.54_55GA[1] (p.Arg19fs) rs1554708771
NM_001083602.2(PTCH1):c.557C>G (p.Pro186Arg) rs1554700016
NM_001083602.2(PTCH1):c.566G>A (p.Arg189Gln) rs779870576
NM_001083602.2(PTCH1):c.569G>A (p.Trp190Ter) rs1554700010
NM_001083602.2(PTCH1):c.56G>A (p.Arg19Lys) rs151310492
NM_001083602.2(PTCH1):c.570del (p.Arg189_Trp190insTer) rs1564055868
NM_001083602.2(PTCH1):c.579C>T (p.Phe193=) rs750313305
NM_001083602.2(PTCH1):c.585T>G (p.Pro195=) rs1554699996
NM_001083602.2(PTCH1):c.589G>A (p.Glu197Lys)
NM_001083602.2(PTCH1):c.58_59CT[1] (p.Leu21fs) rs864622212
NM_001083602.2(PTCH1):c.603G>A (p.Glu201=) rs374155092
NM_001083602.2(PTCH1):c.609_612del (p.Lys203_Lys204insTer) rs1131690969
NM_001083602.2(PTCH1):c.60C>A (p.Leu20=) rs1060504533
NM_001083602.2(PTCH1):c.61_62del (p.Leu21fs) rs1554708760
NM_001083602.2(PTCH1):c.61_66del (p.Leu21_Phe22del) rs1060502296
NM_001083602.2(PTCH1):c.621T>C (p.Tyr207=) rs1060504534
NM_001083602.2(PTCH1):c.649A>T (p.Asn217Tyr)
NM_001083602.2(PTCH1):c.657T>G (p.Ala219=) rs1060504539
NM_001083602.2(PTCH1):c.671G>A (p.Gly224Asp) rs864622130
NM_001083602.2(PTCH1):c.675C>G (p.Tyr225Ter) rs1564055606
NM_001083602.2(PTCH1):c.675del (p.Gly224_Tyr225insTer) rs1564055612
NM_001083602.2(PTCH1):c.676A>G (p.Met226Val)
NM_001083602.2(PTCH1):c.678G>A (p.Met226Ile) rs776187586
NM_001083602.2(PTCH1):c.683G>A (p.Arg228His) rs878853859
NM_001083602.2(PTCH1):c.683G>C (p.Arg228Pro) rs878853859
NM_001083602.2(PTCH1):c.684C>T (p.Arg228=) rs145893445
NM_001083602.2(PTCH1):c.686C>T (p.Pro229Leu) rs370755364
NM_001083602.2(PTCH1):c.688del (p.Cys230fs) rs1131690987
NM_001083602.2(PTCH1):c.695A>G (p.Asn232Ser)
NM_001083602.2(PTCH1):c.697C>T (p.Pro233Ser) rs745669231
NM_001083602.2(PTCH1):c.698C>T (p.Pro233Leu) rs141939274
NM_001083602.2(PTCH1):c.699G>A (p.Pro233=) rs56141639
NM_001083602.2(PTCH1):c.6G>T (p.Gly2=) rs547930654
NM_001083602.2(PTCH1):c.703G>A (p.Asp235Asn) rs767601899
NM_001083602.2(PTCH1):c.707C>G (p.Pro236Arg) rs1487227339
NM_001083602.2(PTCH1):c.709G>C (p.Asp237His) rs1172719429
NM_001083602.2(PTCH1):c.717C>T (p.Pro239=) rs137944857
NM_001083602.2(PTCH1):c.718G>A (p.Ala240Thr) rs547776340
NM_001083602.2(PTCH1):c.720C>T (p.Ala240=) rs1005939298
NM_001083602.2(PTCH1):c.723dup (p.Ala242fs) rs1554699837
NM_001083602.2(PTCH1):c.728C>T (p.Pro243Leu) rs762382517
NM_001083602.2(PTCH1):c.72_106del (p.Tyr27fs) rs864622583
NM_001083602.2(PTCH1):c.732C>T (p.Asn244=) rs768166430
NM_001083602.2(PTCH1):c.740C>G (p.Ser247Ter) rs1564055259
NM_001083602.2(PTCH1):c.745A>G (p.Lys249Glu) rs1564055253
NM_001083602.2(PTCH1):c.746A>C (p.Lys249Thr)
NM_001083602.2(PTCH1):c.747+1G>A rs863224444
NM_001083602.2(PTCH1):c.747+2_747+8delinsCGCT
NM_001083602.2(PTCH1):c.747+4A>C rs1564055215
NM_001083602.2(PTCH1):c.747+9C>G rs878853860
NM_001083602.2(PTCH1):c.748-5T>A
NM_001083602.2(PTCH1):c.748-5T>C
NM_001083602.2(PTCH1):c.751C>G (p.Leu251Val)
NM_001083602.2(PTCH1):c.751C>T (p.Leu251Phe) rs1380199153
NM_001083602.2(PTCH1):c.757A>G (p.Met253Val) rs1438545679
NM_001083602.2(PTCH1):c.760G>T (p.Ala254Ser) rs1554699658
NM_001083602.2(PTCH1):c.763del (p.Val256fs)
NM_001083602.2(PTCH1):c.772_778del (p.Asn258fs)
NM_001083602.2(PTCH1):c.775G>A (p.Gly259Ser)
NM_001083602.2(PTCH1):c.777T>C (p.Gly259=) rs149018937
NM_001083602.2(PTCH1):c.797G>C (p.Arg266Thr) rs1564054690
NM_001083602.2(PTCH1):c.804T>C (p.Tyr268=) rs145867500
NM_001083602.2(PTCH1):c.804T>G (p.Tyr268Ter)
NM_001083602.2(PTCH1):c.80A>G (p.Tyr27Cys) rs1564088256
NM_001083602.2(PTCH1):c.81del (p.Cys26_Tyr27insTer) rs1554708753
NM_001083602.2(PTCH1):c.822G>A (p.Glu274=) rs748171767
NM_001083602.2(PTCH1):c.823T>A (p.Leu275Met)
NM_001083602.2(PTCH1):c.826A>C (p.Ile276Leu)
NM_001083602.2(PTCH1):c.830T>C (p.Val277Ala) rs962982192
NM_001083602.2(PTCH1):c.841G>C (p.Val281Leu) rs1060502279
NM_001083602.2(PTCH1):c.841G>T (p.Val281Phe) rs1060502279
NM_001083602.2(PTCH1):c.851G>A (p.Ser284Asn) rs779294007
NM_001083602.2(PTCH1):c.85C>T (p.Gln29Ter)
NM_001083602.2(PTCH1):c.860A>G (p.Lys287Arg) rs757579309
NM_001083602.2(PTCH1):c.864C>G (p.Leu288=) rs1554699558
NM_001083602.2(PTCH1):c.865G>A (p.Val289Ile) rs555332902
NM_001083602.2(PTCH1):c.869+5G>C rs372657547
NM_001083602.2(PTCH1):c.869G>A (p.Ser290Asn)
NM_001083602.2(PTCH1):c.870-2A>T rs1060502271
NM_001083602.2(PTCH1):c.870-9G>A rs863224344
NM_001083602.2(PTCH1):c.870C>T (p.Ser290=)
NM_001083602.2(PTCH1):c.871G>A (p.Ala291Thr)
NM_001083602.2(PTCH1):c.876T>C (p.His292=) rs2066832
NM_001083602.2(PTCH1):c.882G>A (p.Leu294=) rs2066839
NM_001083602.2(PTCH1):c.883C>T (p.Gln295Ter) rs199476090
NM_001083602.2(PTCH1):c.885G>A (p.Gln295=) rs1554699269
NM_001083602.2(PTCH1):c.895C>T (p.Gln299Ter) rs267606984
NM_001083602.2(PTCH1):c.921C>T (p.Tyr307=) rs2066831
NM_001083602.2(PTCH1):c.922G>A (p.Glu308Lys) rs144323077
NM_001083602.2(PTCH1):c.92del (p.Asn31fs) rs1554708751
NM_001083602.2(PTCH1):c.92dup (p.Asn31fs)
NM_001083602.2(PTCH1):c.930C>G (p.Phe310Leu) rs863224648
NM_001083602.2(PTCH1):c.930del (p.Phe310fs)
NM_001083602.2(PTCH1):c.931A>G (p.Lys311Glu)
NM_001083602.2(PTCH1):c.937T>C (p.Tyr313His) rs1554699212
NM_001083602.2(PTCH1):c.937dup (p.Tyr313fs) rs1554699216
NM_001083602.2(PTCH1):c.939C>T (p.Tyr313=) rs587780690
NM_001083602.2(PTCH1):c.940G>A (p.Glu314Lys) rs772903899
NM_001083602.2(PTCH1):c.948C>T (p.Val316=) rs761718160
NM_001083602.2(PTCH1):c.957del (p.Asn320fs) rs1060502297
NM_001083602.2(PTCH1):c.959A>G (p.Asn320Ser) rs1564053157
NM_001083602.2(PTCH1):c.95G>A (p.Cys32Tyr) rs746435405
NM_001083602.2(PTCH1):c.963G>A (p.Trp321Ter)
NM_001083602.2(PTCH1):c.974A>G (p.Lys325Arg) rs1554699163
NM_001083602.2(PTCH1):c.978G>A (p.Ala326=) rs878853844
NM_001083602.2(PTCH1):c.979G>A (p.Ala327Thr) rs199476091
NM_001083602.2(PTCH1):c.97G>T (p.Gly33Cys)
NM_001083602.2(PTCH1):c.985A>G (p.Ile329Val) rs139498131
NM_001083602.2(PTCH1):c.988C>G (p.Leu330Val) rs371424684
NM_001083602.2(PTCH1):c.98del (p.Gly33fs) rs1564088181
NM_001083602.2(PTCH1):c.992_999del (p.Glu331fs) rs1564053040
NM_001083602.2(PTCH1):c.994G>A (p.Ala332Thr)
NM_001083602.2(PTCH1):c.99C>T (p.Gly33=) rs772407797
PTCH1, 1-BP DEL, 2583C
PTCH1, 1-BP INS, 1247T
PTCH1, 1-BP INS, 2000C
PTCH1, 11-BP DEL, NT2442
PTCH1, 1148G-A
PTCH1, 2-BP INS, 2047CT
PTCH1, 37-BP DEL, NT808
PTCH1, 9-BP INS, CODON 815, PRO-ASN-ILE INS

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