ClinVar Miner

List of variants in gene PTCH1 reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 364
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.3306+83dup rs5899258 0.44900
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.2887+21A>G rs2236406 0.44137
NM_000264.5(PTCH1):c.747-114C>T rs2297088 0.43402
NM_001083603.3(PTCH1):c.198+261G>T rs28591501 0.36782
NM_000264.5(PTCH1):c.201+275T>C rs1355620 0.36742
NM_000264.5(PTCH1):c.201+272T>C rs1355619 0.32861
NM_000264.5(PTCH1):c.*3232G>T rs357565 0.24359
NM_000264.5(PTCH1):c.747-55T>C rs2297087 0.23055
NM_000264.5(PTCH1):c.1067+139T>C rs2274694 0.22700
NM_000264.5(PTCH1):c.*3030A>G rs28485160 0.19479
NM_000264.5(PTCH1):c.1504-51C>G rs574688 0.19156
NM_000264.3(PTCH1):c.-8727A>T rs28704635 0.16680
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=) rs2066836 0.15306
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=) rs1805155 0.12597
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_000264.5(PTCH1):c.*2275T>A rs28380046 0.08954
NM_001083603.3(PTCH1):c.198+492G>A rs113154802 0.08053
NM_000264.5(PTCH1):c.1504-8T>C rs2277184 0.07091
NM_000264.5(PTCH1):c.*237G>C rs28688501 0.06249
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.*1905C>G rs113213198 0.04659
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.*1709G>A rs73540175 0.04602
NM_000264.5(PTCH1):c.*1616A>C rs73540181 0.04299
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=) rs2066835 0.03773
NM_000264.5(PTCH1):c.2703+282G>A rs28441412 0.03033
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.*231T>C rs28401363 0.01898
NM_000264.5(PTCH1):c.1216-201C>T rs56319001 0.01623
NM_000264.5(PTCH1):c.2888-271G>A rs56163504 0.01618
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.*1+37A>G rs56237839 0.01148
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178 0.01089
NM_001083603.3(PTCH1):c.-132G>A rs118133906 0.01069
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 0.00772
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_000264.5(PTCH1):c.*3157G>A rs118174136 0.00697
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.*2276A>T rs868749157 0.00614
NM_000264.5(PTCH1):c.394+71A>G rs554272795 0.00501
NM_000264.5(PTCH1):c.*780C>T rs75765727 0.00464
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00436
NM_000264.5(PTCH1):c.*801C>T rs114243832 0.00412
NM_000264.5(PTCH1):c.201+101T>A rs79663574 0.00411
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.3805-9C>T rs2236404 0.00105
NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896 0.00088
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00086
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.2888-44C>T rs45602737 0.00075
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=) rs56007343 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00062
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=) rs145196322 0.00060
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00060
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00058
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.*2175G>A rs188061818 0.00052
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171 0.00048
NM_000264.5(PTCH1):c.3169-17T>A rs375034864 0.00044
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=) rs139123130 0.00044
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.3169-12G>A rs371887033 0.00037
NM_000264.5(PTCH1):c.*787C>T rs144656847 0.00036
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000264.5(PTCH1):c.*1889G>A rs565918654 0.00033
NM_000264.5(PTCH1):c.1216-6C>A rs186008764 0.00028
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.584+14C>T rs372641261 0.00024
NM_000264.5(PTCH1):c.4218C>T (p.His1406=) rs372558350 0.00023
NM_000264.5(PTCH1):c.*153T>C rs576864680 0.00021
NM_000264.5(PTCH1):c.1488C>T (p.Asn496=) rs577742581 0.00021
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.1728+16T>A rs758961945 0.00019
NM_000264.5(PTCH1):c.3251T>C (p.Val1084Ala) rs1463935039 0.00019
NM_000264.5(PTCH1):c.*248C>T rs576591779 0.00015
NM_000264.5(PTCH1):c.346T>C (p.Leu116=) rs576398790 0.00015
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser) rs574856671 0.00015
NM_000264.5(PTCH1):c.567T>C (p.His189=) rs150759973 0.00015
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.4252G>A (p.Val1418Ile) rs369882883 0.00014
NM_000264.5(PTCH1):c.2595C>T (p.Thr865=) rs144512837 0.00013
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.3766G>A (p.Val1256Met) rs150850039 0.00012
NM_000264.5(PTCH1):c.560G>A (p.Arg187His) rs138034434 0.00011
NM_000264.5(PTCH1):c.1247C>G (p.Thr416Ser) rs201174718 0.00010
NM_000264.5(PTCH1):c.2561-7T>C rs112140654 0.00010
NM_000264.5(PTCH1):c.2859C>T (p.Ala953=) rs142131559 0.00010
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His) rs779365332 0.00010
NM_000264.5(PTCH1):c.*2001C>T rs531230280 0.00009
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=) rs369295226 0.00009
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952 0.00009
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606 0.00009
NM_000264.5(PTCH1):c.174C>T (p.Ala58=) rs368563182 0.00008
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000264.5(PTCH1):c.3531C>T (p.Phe1177=) rs587780702 0.00008
NM_000264.5(PTCH1):c.3792C>T (p.Phe1264=) rs144312968 0.00008
NM_000264.5(PTCH1):c.3169-5T>C rs367654039 0.00007
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=) rs139071993 0.00007
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00007
NM_000264.5(PTCH1):c.882C>T (p.Arg294=) rs145893445 0.00007
NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn) rs531947455 0.00006
NM_000264.5(PTCH1):c.2888-8C>T rs567994836 0.00006
NM_000264.5(PTCH1):c.3449+11G>A rs568528640 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.*2-5T>A rs780500071 0.00005
NM_000264.5(PTCH1):c.2689A>G (p.Ile897Val) rs758483793 0.00005
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His) rs771238114 0.00005
NM_000264.5(PTCH1):c.1063G>A (p.Val355Ile) rs555332902 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.1710G>T (p.Leu570=) rs374924167 0.00004
NM_000264.5(PTCH1):c.2892G>A (p.Pro964=) rs377213209 0.00004
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=) rs751797047 0.00004
NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=) rs369760318 0.00004
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His) rs762040036 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.584+10G>A rs765713791 0.00004
NM_000264.5(PTCH1):c.624G>A (p.Glu208=) rs777231059 0.00004
NM_000264.5(PTCH1):c.946-13C>T rs200749389 0.00004
NM_000264.5(PTCH1):c.1137C>T (p.Tyr379=) rs587780690 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.3067G>A (p.Gly1023Ser) rs752317944 0.00003
NM_000264.5(PTCH1):c.3240C>T (p.Ala1080=) rs200347952 0.00003
NM_000264.5(PTCH1):c.3390C>T (p.Ala1130=) rs762637887 0.00003
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn) rs749542089 0.00003
NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser) rs559827048 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.3817G>A (p.Glu1273Lys) rs749244396 0.00003
NM_000264.5(PTCH1):c.3881C>T (p.Pro1294Leu) rs767166469 0.00003
NM_000264.5(PTCH1):c.4012C>T (p.Arg1338Cys) rs374346190 0.00003
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=) rs748440992 0.00003
NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=) rs375588552 0.00003
NM_000264.5(PTCH1):c.4140C>T (p.Ala1380=) rs752595145 0.00003
NM_000264.5(PTCH1):c.4210A>G (p.Thr1404Ala) rs201873008 0.00003
NM_000264.5(PTCH1):c.975T>C (p.Gly325=) rs149018937 0.00003
NM_000264.5(PTCH1):c.1039G>C (p.Val347Leu) rs1060502279 0.00002
NM_000264.5(PTCH1):c.1058A>G (p.Lys353Arg) rs757579309 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.1324G>A (p.Val442Met) rs759493890 0.00002
NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr) rs142791675 0.00002
NM_000264.5(PTCH1):c.1642G>A (p.Val548Met) rs575035810 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.3100G>A (p.Val1034Met) rs760902564 0.00002
NM_000264.5(PTCH1):c.3183G>A (p.Ala1061=) rs878853854 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.3623C>T (p.Ala1208Val) rs914090288 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.3724G>A (p.Glu1242Lys) rs779417284 0.00002
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 0.00002
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr) rs368528885 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.4151C>T (p.Pro1384Leu) rs146447673 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.1068-8T>C rs1194212093 0.00001
NM_000264.5(PTCH1):c.1087A>G (p.Met363Val) rs1342698215 0.00001
NM_000264.5(PTCH1):c.1099A>G (p.Met367Val) rs753152792 0.00001
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys) rs772903899 0.00001
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091 0.00001
NM_000264.5(PTCH1):c.1238A>G (p.Gln413Arg) rs975634341 0.00001
NM_000264.5(PTCH1):c.1625A>G (p.Lys542Arg) rs758673714 0.00001
NM_000264.5(PTCH1):c.1669A>G (p.Thr557Ala) rs772312984 0.00001
NM_000264.5(PTCH1):c.216C>T (p.Gly72=) rs1383963652 0.00001
NM_000264.5(PTCH1):c.228G>A (p.Pro76=) rs140542305 0.00001
NM_000264.5(PTCH1):c.2570A>G (p.Asp857Gly) rs763119366 0.00001
NM_000264.5(PTCH1):c.2615A>G (p.Asn872Ser) rs769029578 0.00001
NM_000264.5(PTCH1):c.2677C>T (p.Arg893Cys) rs753008328 0.00001
NM_000264.5(PTCH1):c.2737A>G (p.Ile913Val) rs147643145 0.00001
NM_000264.5(PTCH1):c.2797G>A (p.Ala933Thr) rs373120584 0.00001
NM_000264.5(PTCH1):c.2824C>T (p.Arg942Trp) rs756465236 0.00001
NM_000264.5(PTCH1):c.2876C>T (p.Thr959Ile) rs776378611 0.00001
NM_000264.5(PTCH1):c.2907C>A (p.Ile969=) rs748318700 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.2975A>G (p.Glu992Gly) rs767250750 0.00001
NM_000264.5(PTCH1):c.3088C>G (p.Leu1030Val) rs1040729718 0.00001
NM_000264.5(PTCH1):c.3128G>T (p.Cys1043Phe) rs1345405015 0.00001
NM_000264.5(PTCH1):c.3156G>A (p.Thr1052=) rs549164233 0.00001
NM_000264.5(PTCH1):c.3262G>A (p.Ala1088Thr) rs150217389 0.00001
NM_000264.5(PTCH1):c.3292G>A (p.Val1098Ile) rs748726158 0.00001
NM_000264.5(PTCH1):c.3322A>G (p.Ile1108Val) rs866037881 0.00001
NM_000264.5(PTCH1):c.3327C>T (p.Gly1109=) rs779950790 0.00001
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys) rs758520331 0.00001
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=) rs756638660 0.00001
NM_000264.5(PTCH1):c.3391G>A (p.Val1131Met) rs566619057 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.3481A>G (p.Ile1161Val) rs202102540 0.00001
NM_000264.5(PTCH1):c.3565G>A (p.Gly1189Ser) rs767535853 0.00001
NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr) rs945517672 0.00001
NM_000264.5(PTCH1):c.3625A>G (p.Met1209Val) rs1259134617 0.00001
NM_000264.5(PTCH1):c.3666C>T (p.Asp1222=) rs777377921 0.00001
NM_000264.5(PTCH1):c.3706G>A (p.Glu1236Lys) rs779844193 0.00001
NM_000264.5(PTCH1):c.373G>A (p.Val125Met) rs760253622 0.00001
NM_000264.5(PTCH1):c.3787G>A (p.Val1263Ile) rs752831580 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.3886G>A (p.Gly1296Arg) rs372828014 0.00001
NM_000264.5(PTCH1):c.3920C>G (p.Pro1307Arg) rs181585555 0.00001
NM_000264.5(PTCH1):c.394+6_394+17del rs774338309 0.00001
NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu) rs1400282737 0.00001
NM_000264.5(PTCH1):c.3943C>T (p.Pro1315Ser) rs746022197 0.00001
NM_000264.5(PTCH1):c.4046C>T (p.Pro1349Leu) rs773298544 0.00001
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val) rs777096311 0.00001
NM_000264.5(PTCH1):c.405A>G (p.Arg135=) rs1485635434 0.00001
NM_000264.5(PTCH1):c.4085C>T (p.Pro1362Leu) rs777731495 0.00001
NM_000264.5(PTCH1):c.463C>T (p.Pro155Ser) rs369105527 0.00001
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp) rs587780707 0.00001
NM_000264.5(PTCH1):c.574A>G (p.Met192Val) rs763513784 0.00001
NM_000264.5(PTCH1):c.646A>G (p.Met216Val) rs587780709 0.00001
NM_000264.5(PTCH1):c.728C>T (p.Ser243Phe) rs141265422 0.00001
NM_000264.5(PTCH1):c.752A>G (p.Lys251Arg) rs754650075 0.00001
NM_000264.5(PTCH1):c.778G>A (p.Asp260Asn) rs765174527 0.00001
NM_000264.5(PTCH1):c.878A>G (p.Asp293Gly) rs768095469 0.00001
NM_000264.5(PTCH1):c.893A>G (p.Asn298Ser) rs1456514392 0.00001
NM_000264.5(PTCH1):c.955A>G (p.Met319Val) rs1438545679 0.00001
NM_000264.5(PTCH1):c.956T>C (p.Met319Thr) rs867609005 0.00001
GRCh37/hg19 9q22.32(chr9:98239022-98239146)x3
GRCh37/hg19 9q22.32(chr9:98239051-98239146)x3
GRCh37/hg19 9q22.32(chr9:98270240-98270408)x3
NM_000264.5(PTCH1):c.*105G>A rs142840663
NM_000264.5(PTCH1):c.*1866TG[7] rs59205702
NM_000264.5(PTCH1):c.*1884CGTG[4] rs767899913
NM_000264.5(PTCH1):c.*664dup rs111365480
NM_000264.5(PTCH1):c.1016A>G (p.Glu339Gly) rs777696239
NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser) rs1159971759
NM_000264.5(PTCH1):c.1067+107G>A rs55873843
NM_000264.5(PTCH1):c.1126T>C (p.Phe376Leu) rs2538217391
NM_000264.5(PTCH1):c.1173A>G (p.Lys391=) rs2118365117
NM_000264.5(PTCH1):c.1247C>T (p.Thr416Ile) rs201174718
NM_000264.5(PTCH1):c.1254G>T (p.Lys418Asn) rs1227338966
NM_000264.5(PTCH1):c.1266C>T (p.Phe422=) rs776867628
NM_000264.5(PTCH1):c.1347+6G>T rs372655486
NM_000264.5(PTCH1):c.1348-17del rs750690933
NM_000264.5(PTCH1):c.1473C>G (p.Ile491Met) rs768183391
NM_000264.5(PTCH1):c.1504-8del rs2118287389
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr) rs781101191
NM_000264.5(PTCH1):c.1592T>C (p.Ile531Thr) rs1227526379
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.1603-9dup rs759445912
NM_000264.5(PTCH1):c.1681A>G (p.Met561Val) rs1332335605
NM_000264.5(PTCH1):c.1686C>G (p.Ala562=) rs2066836
NM_000264.5(PTCH1):c.1716G>A (p.Ala572=) rs55844310
NM_000264.5(PTCH1):c.186G>A (p.Leu62=) rs1347161576
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.217C>G (p.Arg73Gly)
NM_000264.5(PTCH1):c.2561-207C>G rs28698995
NM_000264.5(PTCH1):c.2704-69C>A rs1189467853
NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr) rs1360279030
NM_000264.5(PTCH1):c.2831A>G (p.His944Arg)
NM_000264.5(PTCH1):c.2833C>G (p.Arg945Gly) rs1064794260
NM_000264.5(PTCH1):c.2852A>G (p.Asp951Gly) rs752126122
NM_000264.5(PTCH1):c.2868G>A (p.Met956Ile) rs761501958
NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu) rs747385350
NM_000264.5(PTCH1):c.3046C>T (p.Leu1016Phe) rs374575067
NM_000264.5(PTCH1):c.3126G>A (p.Val1042=) rs1304408291
NM_000264.5(PTCH1):c.312G>A (p.Val104=) rs1166757525
NM_000264.5(PTCH1):c.3182C>T (p.Ala1061Val) rs1409913416
NM_000264.5(PTCH1):c.321C>T (p.Leu107=) rs757524974
NM_000264.5(PTCH1):c.3255C>T (p.Ile1085=) rs1206400803
NM_000264.5(PTCH1):c.3344C>T (p.Ala1115Val) rs779192138
NM_000264.5(PTCH1):c.3346G>C (p.Val1116Leu) rs201605273
NM_000264.5(PTCH1):c.336C>A (p.Phe112Leu) rs1490482816
NM_000264.5(PTCH1):c.3472A>T (p.Ile1158Phe) rs368636457
NM_000264.5(PTCH1):c.3525G>A (p.Leu1175=) rs1231593535
NM_000264.5(PTCH1):c.355G>A (p.Ala119Thr) rs765106589
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys) rs767535853
NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=) rs1317133080
NM_000264.5(PTCH1):c.3605C>T (p.Pro1202Leu) rs374097441
NM_000264.5(PTCH1):c.361C>T (p.Leu121Phe) rs776424978
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.363C>T (p.Leu121=) rs1168138539
NM_000264.5(PTCH1):c.3650G>A (p.Gly1217Glu) rs759967074
NM_000264.5(PTCH1):c.3743G>C (p.Gly1248Ala) rs375857496
NM_000264.5(PTCH1):c.3754C>G (p.His1252Asp) rs780990429
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr) rs780990429
NM_000264.5(PTCH1):c.3796C>T (p.His1266Tyr) rs751826546
NM_000264.5(PTCH1):c.3805G>C (p.Val1269Leu) rs1838059096
NM_000264.5(PTCH1):c.3809T>C (p.Val1270Ala) rs1342034180
NM_000264.5(PTCH1):c.3896G>A (p.Gly1299Asp) rs773133083
NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu) rs780042369
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.5(PTCH1):c.3919C>G (p.Pro1307Ala) rs574880967
NM_000264.5(PTCH1):c.3920C>A (p.Pro1307His) rs181585555
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser) rs762725821
NM_000264.5(PTCH1):c.3929G>T (p.Gly1310Val) rs773043616
NM_000264.5(PTCH1):c.3931T>C (p.Leu1311=) rs1336220252
NM_000264.5(PTCH1):c.3936G>T (p.Trp1312Cys) rs1360926879
NM_000264.5(PTCH1):c.3943C>G (p.Pro1315Ala) rs746022197
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.3949A>G (p.Arg1317Gly) rs1482005246
NM_000264.5(PTCH1):c.395-82T>A rs2118555124
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.4014_4034del (p.Trp1339_Arg1345del) rs774819810
NM_000264.5(PTCH1):c.4033C>G (p.Arg1345Gly) rs556901417
NM_000264.5(PTCH1):c.4048C>G (p.Arg1350Gly) rs140417636
NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu) rs757909121
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.5(PTCH1):c.429T>A (p.Thr143=) rs144117078
NM_000264.5(PTCH1):c.454A>G (p.Met152Val) rs766905791
NM_000264.5(PTCH1):c.461A>G (p.Asn154Ser)
NM_000264.5(PTCH1):c.508C>G (p.Leu170Val) rs1841917213
NM_000264.5(PTCH1):c.514A>G (p.Thr172Ala) rs1244945859
NM_000264.5(PTCH1):c.571T>C (p.Tyr191His) rs1480028040
NM_000264.5(PTCH1):c.606G>T (p.Leu202Phe) rs769719333
NM_000264.5(PTCH1):c.747-5del
NM_000264.5(PTCH1):c.763C>T (p.Arg255Trp) rs925067209
NM_000264.5(PTCH1):c.822A>G (p.Gln274=) rs1182657633
NM_000264.5(PTCH1):c.875T>C (p.Met292Thr) rs748727674

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