ClinVar Miner

List of variants in gene PTCH1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 309
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.3306+83dup rs5899258 0.45976
NM_000264.5(PTCH1):c.1348-136C>T rs2297086 0.44647
NM_000264.5(PTCH1):c.2561-80G>C rs2274692 0.44599
NM_000264.5(PTCH1):c.747-114C>T rs2297088 0.44525
NM_000264.5(PTCH1):c.2887+21A>G rs2236406 0.44137
NM_001083603.3(PTCH1):c.198+261G>T rs28591501 0.37633
NM_000264.5(PTCH1):c.201+275T>C rs1355620 0.37553
NM_000264.5(PTCH1):c.1067+139T>C rs2274694 0.23224
NM_000264.5(PTCH1):c.747-55T>C rs2297087 0.23055
NM_000264.5(PTCH1):c.1504-51C>G rs574688 0.19156
NM_000264.3(PTCH1):c.-8727A>T rs28704635 0.16898
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=) rs2066836 0.15395
NM_000264.5(PTCH1):c.395-231T>C rs2282041 0.12136
NM_000264.5(PTCH1):c.395-276_395-275insT rs3215874 0.11241
NM_000264.5(PTCH1):c.395-172T>C rs2282040 0.10585
NM_000264.5(PTCH1):c.584+177G>A rs28673156 0.10583
NM_000264.5(PTCH1):c.3449+129A>G rs28583690 0.09835
NM_001083603.3(PTCH1):c.198+492G>A rs113154802 0.08053
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.3805-225C>T rs77789632 0.05529
NM_000264.5(PTCH1):c.*1373G>C rs16909865 0.05498
NM_000264.5(PTCH1):c.1067+74A>G rs55706201 0.04737
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000264.5(PTCH1):c.3307-66G>C rs2274690 0.04654
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.2703+282G>A rs28441412 0.03255
NM_000264.5(PTCH1):c.*1702C>T rs115675849 0.02824
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759 0.02608
NM_000264.5(PTCH1):c.3307-152G>A rs55989544 0.02262
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
NM_000264.5(PTCH1):c.3805-197T>A rs76562151 0.02086
NM_000264.5(PTCH1):c.201+119T>A rs28475503 0.02067
NM_000264.5(PTCH1):c.*231T>C rs28401363 0.01898
NM_000264.5(PTCH1):c.*1+229G>A rs111532669 0.01820
NM_000264.5(PTCH1):c.2888-271G>A rs56163504 0.01758
NM_000264.5(PTCH1):c.1602+181A>G rs2277183 0.01724
NM_000264.5(PTCH1):c.1216-201C>T rs56319001 0.01623
NM_001083603.3(PTCH1):c.-86A>T rs142761971 0.01556
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.1603-246C>T rs76556801 0.01196
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178 0.01089
NC_000009.12:g.95517108C>T rs151039474 0.01024
NM_001083603.3(PTCH1):c.-132G>A rs118133906 0.01024
NM_000264.5(PTCH1):c.*1+37A>G rs56237839 0.00987
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_000264.5(PTCH1):c.945+112G>A rs45619434 0.00892
NM_000264.5(PTCH1):c.3306+316C>T rs73654562 0.00882
NM_000264.5(PTCH1):c.1215+143C>T rs55986818 0.00871
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_000264.5(PTCH1):c.1215+212A>G rs56372911 0.00776
NM_000264.5(PTCH1):c.1067+299C>T rs55773343 0.00754
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_000264.5(PTCH1):c.1729-197G>C rs147497556 0.00682
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.3567C>T (p.Gly1189=) rs62637630 0.00663
NM_000264.5(PTCH1):c.394+71A>G rs554272795 0.00546
NM_000264.5(PTCH1):c.-267C>T rs562807559 0.00538
NM_000264.5(PTCH1):c.*85G>A rs147428149 0.00500
NM_000264.5(PTCH1):c.394+215G>C rs569338456 0.00473
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00466
NM_000264.5(PTCH1):c.3805-166G>A rs56222079 0.00437
NM_000264.5(PTCH1):c.1729-322C>T rs140080993 0.00436
NM_000264.5(PTCH1):c.-341A>C rs551570374 0.00432
NM_000264.5(PTCH1):c.2703+255G>A rs77421950 0.00409
NM_000264.5(PTCH1):c.3450-132T>G rs56386406 0.00393
NM_000264.5(PTCH1):c.3550-159_3550-157dup rs55761380 0.00391
NM_000264.5(PTCH1):c.2887+182C>T rs55787302 0.00384
NM_000264.5(PTCH1):c.3549+135G>A rs55758638 0.00383
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=) rs111446700 0.00379
NM_000264.5(PTCH1):c.585-63C>T rs2066833 0.00377
NM_000264.5(PTCH1):c.3549+38G>T rs200210856 0.00330
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135 0.00128
NM_000264.5(PTCH1):c.*1+245G>A rs189547730 0.00118
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.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_000264.5(PTCH1):c.2888-44C>T rs45602737 0.00075
NM_000264.5(PTCH1):c.3805-9C>T rs2236404 0.00072
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.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
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.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_000264.5(PTCH1):c.945+20G>A rs374618901 0.00040
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=) rs149398794 0.00021
NM_000264.5(PTCH1):c.1488C>T (p.Asn496=) rs577742581 0.00020
NM_000264.5(PTCH1):c.1661G>A (p.Ser554Asn) rs148367880 0.00019
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532 0.00017
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) rs200620662 0.00016
NM_000264.5(PTCH1):c.567T>C (p.His189=) rs150759973 0.00016
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 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.2671G>A (p.Gly891Ser) rs570091335 0.00012
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000264.5(PTCH1):c.896C>T (p.Pro299Leu) rs141939274 0.00012
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759 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.1247C>G (p.Thr416Ser) rs201174718 0.00009
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00008
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg) rs767792734 0.00007
NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu) rs370755364 0.00007
NM_000264.5(PTCH1):c.3449+11G>A rs568528640 0.00006
NM_000264.5(PTCH1):c.2704-11C>T rs779097397 0.00005
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 0.00004
NM_000264.5(PTCH1):c.404G>A (p.Arg135Gln) rs375628555 0.00004
NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=) rs375588552 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000264.5(PTCH1):c.624G>A (p.Glu208=) rs777231059 0.00004
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=) rs141016655 0.00003
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu) rs781062564 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.4087G>A (p.Gly1363Ser) rs767625820 0.00003
NM_000264.5(PTCH1):c.1215+14C>T rs367857273 0.00002
NM_000264.5(PTCH1):c.237G>A (p.Leu79=) rs547602299 0.00002
NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=) rs142362404 0.00002
NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met) rs760902564 0.00002
NM_000264.5(PTCH1):c.3642G>A (p.Thr1214=) rs143974523 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.3987G>A (p.Gly1329=) rs539319573 0.00002
NM_000264.5(PTCH1):c.4148C>T (p.Pro1383Leu) rs571030658 0.00002
NM_000264.5(PTCH1):c.4172G>A (p.Arg1391Gln) rs773676486 0.00002
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly) rs150696398 0.00002
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn) rs767601899 0.00002
NM_000264.5(PTCH1):c.1153A>G (p.Ile385Val) rs977358021 0.00001
NM_000264.5(PTCH1):c.1218G>A (p.Val406=) rs753586235 0.00001
NM_000264.5(PTCH1):c.1318A>G (p.Ile440Val) rs752530755 0.00001
NM_000264.5(PTCH1):c.1419C>T (p.Gly473=) rs774841100 0.00001
NM_000264.5(PTCH1):c.1503+19A>T rs201193230 0.00001
NM_000264.5(PTCH1):c.1642G>A (p.Val548Met) rs575035810 0.00001
NM_000264.5(PTCH1):c.212C>T (p.Thr71Ile) rs529720410 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.3034G>A (p.Gly1012Ser) rs187813269 0.00001
NM_000264.5(PTCH1):c.3074G>A (p.Arg1025His) rs370150142 0.00001
NM_000264.5(PTCH1):c.311T>C (p.Val104Ala) rs746275162 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.3292G>A (p.Val1098Ile) rs748726158 0.00001
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala) rs1060502284 0.00001
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met) rs769691754 0.00001
NM_000264.5(PTCH1):c.3388G>A (p.Ala1130Thr) rs766037357 0.00001
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val) rs369265532 0.00001
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys) rs571420165 0.00001
NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr) rs945517672 0.00001
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu) rs375857496 0.00001
NM_000264.5(PTCH1):c.3804+6T>G rs1298248967 0.00001
NM_000264.5(PTCH1):c.3876C>T (p.Ser1292=) rs752197356 0.00001
NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu) rs786204201 0.00001
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser) rs1057524645 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=) rs748440992 0.00001
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys) rs139535966 0.00001
NM_000264.5(PTCH1):c.4180C>T (p.Arg1394Ter) rs1297685477 0.00001
NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp) rs786204094 0.00001
NM_000264.5(PTCH1):c.430C>T (p.Arg144Cys) rs587780705 0.00001
NM_000264.5(PTCH1):c.451G>T (p.Ala151Ser) rs751024812 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
NC_000009.12:g.95517248G>C rs188897755
NM_000264.5(PTCH1):c.*1+20dup rs1064796211
NM_000264.5(PTCH1):c.*2-1G>A
NM_000264.5(PTCH1):c.*664dup rs111365480
NM_000264.5(PTCH1):c.1067+107G>A rs55873843
NM_000264.5(PTCH1):c.1068-1G>A rs1085307752
NM_000264.5(PTCH1):c.1086dup (p.Met363fs) rs1064793474
NM_000264.5(PTCH1):c.1087A>G (p.Met363Val) rs1342698215
NM_000264.5(PTCH1):c.1119C>G (p.Tyr373Ter) rs2066831
NM_000264.5(PTCH1):c.1133G>A (p.Gly378Glu) rs1463870316
NM_000264.5(PTCH1):c.1164C>A (p.Asn388Lys) rs201602238
NM_000264.5(PTCH1):c.1173A>G (p.Lys391=) rs2118365117
NM_000264.5(PTCH1):c.1195T>A (p.Trp399Arg) rs2118364438
NM_000264.5(PTCH1):c.1215+15G>T rs781602634
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del) rs1489690325
NM_000264.5(PTCH1):c.1267A>C (p.Thr423Pro)
NM_000264.5(PTCH1):c.1314T>A (p.Ser438Arg) rs1588602538
NM_000264.5(PTCH1):c.1342C>T (p.Leu448Phe)
NM_000264.5(PTCH1):c.1348-2A>G rs1064793978
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
NM_000264.5(PTCH1):c.1405_1423del (p.Val469fs) rs1554698587
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
NM_000264.5(PTCH1):c.1474G>A (p.Gly492Arg) rs2118303660
NM_000264.5(PTCH1):c.1503+1G>C rs864622293
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=) rs1085307511
NM_000264.5(PTCH1):c.1503G>T (p.Gln501His) rs1085307511
NM_000264.5(PTCH1):c.1504-1G>C rs1057518400
NM_000264.5(PTCH1):c.1504-3T>C rs1588598721
NM_000264.5(PTCH1):c.1544T>A (p.Val515Asp) rs1057518491
NM_000264.5(PTCH1):c.1581G>T (p.Gln527His) rs2118280777
NM_000264.5(PTCH1):c.1585A>T (p.Lys529Ter) rs780434261
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.1603-2A>G rs1064793921
NM_000264.5(PTCH1):c.1612G>A (p.Gly538Arg) rs1347882326
NM_000264.5(PTCH1):c.1615dup (p.Glu539fs) rs878853847
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys) rs137903539
NM_000264.5(PTCH1):c.1665_1666inv (p.Val556Ile)
NM_000264.5(PTCH1):c.1687G>T (p.Ala563Ser) rs146616780
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter) rs781768965
NM_000264.5(PTCH1):c.201+101T>A rs79663574
NM_000264.5(PTCH1):c.201+103AC[6] rs962367211
NM_000264.5(PTCH1):c.201+115_201+122del rs71366292
NM_000264.5(PTCH1):c.201+119_201+120del rs369915085
NM_000264.5(PTCH1):c.201+123_201+126del rs139100790
NM_000264.5(PTCH1):c.201+242GT[8] rs139956254
NM_000264.5(PTCH1):c.201+242GT[9] rs139956254
NM_000264.5(PTCH1):c.201+272T>C rs1355619
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000264.5(PTCH1):c.2561-1G>A rs1131691700
NM_000264.5(PTCH1):c.2561-207C>G rs28698995
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs) rs864622212
NM_000264.5(PTCH1):c.2605A>G (p.Met869Val) rs2136689015
NM_000264.5(PTCH1):c.2626G>T (p.Gly876Ter) rs1131691758
NM_000264.5(PTCH1):c.2634C>T (p.Asp878=) rs771732591
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu) rs1839507201
NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter) rs1064796618
NM_000264.5(PTCH1):c.2704-69C>A rs1189467853
NM_000264.5(PTCH1):c.2712dup (p.Gln905fs) rs143091773
NM_000264.5(PTCH1):c.2760C>T (p.Tyr920=) rs1588544909
NM_000264.5(PTCH1):c.278dup (p.Tyr93Ter) rs1587693544
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu) rs1839290937
NM_000264.5(PTCH1):c.2810C>T (p.Ser937Phe) rs1839284772
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.2860_2869delinsTAGT (p.Asp954_Pro957delinsTer) rs1064793991
NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe) rs1839276876
NM_000264.5(PTCH1):c.2888-284del rs56213847
NM_000264.5(PTCH1):c.2888-8C>T rs567994836
NM_000264.5(PTCH1):c.2899G>T (p.Glu967Ter) rs886041943
NM_000264.5(PTCH1):c.296G>T (p.Gly99Val) rs753884837
NM_000264.5(PTCH1):c.3042del (p.Phe1015fs) rs886039540
NM_000264.5(PTCH1):c.3044_3071del (p.Phe1015fs) rs886039678
NM_000264.5(PTCH1):c.3120C>A (p.Phe1040Leu)
NM_000264.5(PTCH1):c.3169-1G>A rs1060502285
NM_000264.5(PTCH1):c.3169G>A (p.Val1057Met) rs1838934517
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.3314dup (p.Thr1106fs) rs1554690484
NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys) rs1838662287
NM_000264.5(PTCH1):c.3393G>T (p.Val1131=) rs1267662604
NM_000264.5(PTCH1):c.3406G>A (p.Gly1136Arg) rs1838655420
NM_000264.5(PTCH1):c.3457T>C (p.Phe1153Leu)
NM_000264.5(PTCH1):c.3460G>C (p.Ala1154Pro) rs878853857
NM_000264.5(PTCH1):c.3550-115G>T rs56021411
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg) rs1838236724
NM_000264.5(PTCH1):c.3605C>T (p.Pro1202Leu) rs374097441
NM_000264.5(PTCH1):c.3740C>G (p.Ala1247Gly) rs1588516924
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met) rs150850039
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
NM_000264.5(PTCH1):c.3886G>T (p.Gly1296Ter)
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs) rs761353734
NM_000264.5(PTCH1):c.394+1G>A rs1131690995
NM_000264.5(PTCH1):c.394+212C>A rs191867316
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.3945del (p.Tyr1316fs)
NM_000264.5(PTCH1):c.395-82T>A rs2118555124
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg) rs536440590
NM_000264.5(PTCH1):c.3956_3957delinsTT (p.Arg1319Leu)
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=) rs1554688549
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.4014_4034del (p.Trp1339_Arg1345del) rs774819810
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp) rs1218728112
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter) rs1131690986
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu) rs754065147
NM_000264.5(PTCH1):c.4179C>A (p.Pro1393=) rs1057521043
NM_000264.5(PTCH1):c.4187del (p.Gly1396fs) rs1588510168
NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
NM_000264.5(PTCH1):c.4294C>T (p.Leu1432=)
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu) rs772802013
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val) rs864622100
NM_000264.5(PTCH1):c.451del (p.Ala151fs) rs2118547596
NM_000264.5(PTCH1):c.489_490insTA (p.Glu164Ter) rs1064796259
NM_000264.5(PTCH1):c.508C>G (p.Leu170Val) rs1841917213
NM_000264.5(PTCH1):c.531A>T (p.Gln177His) rs1841912540
NM_000264.5(PTCH1):c.548T>C (p.Leu183Pro)
NM_000264.5(PTCH1):c.564_569del (p.His189_Val190del) rs1554702032
NM_000264.5(PTCH1):c.585-17_585-13del rs776103507
NM_000264.5(PTCH1):c.585-1G>C rs1057520590
NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter) rs1064793922
NM_000264.5(PTCH1):c.606del (p.Leu202fs) rs1064794117
NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter) rs1554700647
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000264.5(PTCH1):c.817_820delinsGAT (p.Tyr273fs) rs1554699969
NM_000264.5(PTCH1):c.822del (p.Val275fs) rs1554699964
NM_000264.5(PTCH1):c.833G>A (p.Trp278Ter)
NM_000264.5(PTCH1):c.866A>G (p.His289Arg)
NM_000264.5(PTCH1):c.874A>G (p.Met292Val) rs1588610088
NM_000264.5(PTCH1):c.910T>A (p.Cys304Ser)
NM_000264.5(PTCH1):c.940A>G (p.Thr314Ala) rs2118411651
NM_000264.5(PTCH1):c.945+3_945+6del rs1064795637
NM_000264.5(PTCH1):c.945+9C>T rs878853860
NM_000264.5(PTCH1):c.946-5T>A rs1588608882
NM_001083603.3(PTCH1):c.157G>T (p.Glu53Ter) rs185570125

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