ClinVar Miner

List of variants in gene PTCH1 reported as likely benign for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 778
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HGVS dbSNP gnomAD frequency
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.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.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.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
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.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.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000264.5(PTCH1):c.1216-6C>A rs186008764 0.00027
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_001083603.3(PTCH1):c.36G>T (p.Val12=) rs200215582 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.3617G>A (p.Arg1206His) rs560967532 0.00017
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.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.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.560G>A (p.Arg187His) rs138034434 0.00011
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.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.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.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.3241G>A (p.Val1081Met) rs587778629 0.00007
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg) rs767792734 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.1342C>A (p.Leu448Ile) rs537871675 0.00006
NM_000264.5(PTCH1):c.1713G>T (p.Arg571=) rs762575636 0.00006
NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn) rs531947455 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.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.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.1063G>A (p.Val355Ile) rs555332902 0.00004
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 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.2635G>A (p.Asp879Asn) rs750373573 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.3338G>A (p.Arg1113His) rs143781513 0.00004
NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=) rs369760318 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.3840G>A (p.Ser1280=) rs750770371 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.4059G>A (p.Ala1353=) rs368110756 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.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_000264.5(PTCH1):c.1164C>T (p.Asn388=) rs201602238 0.00003
NM_000264.5(PTCH1):c.1293G>A (p.Leu431=) rs200313703 0.00003
NM_000264.5(PTCH1):c.1348-4G>A rs772826555 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.2751C>T (p.Ser917=) rs768127089 0.00003
NM_000264.5(PTCH1):c.2850C>T (p.His950=) rs200776583 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.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.3881C>T (p.Pro1294Leu) rs767166469 0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 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.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.4251C>T (p.His1417=) rs371960721 0.00003
NM_000264.5(PTCH1):c.543G>A (p.Ser181=) rs1461606997 0.00003
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro) rs372422922 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.975T>C (p.Gly325=) rs149018937 0.00003
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.1067G>A (p.Ser356Asn) rs764579762 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.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.2610A>C (p.Pro870=) rs762087413 0.00002
NM_000264.5(PTCH1):c.2793C>T (p.Pro931=) rs1162747889 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.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.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.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.3724G>A (p.Glu1242Lys) rs779417284 0.00002
NM_000264.5(PTCH1):c.3741G>A (p.Ala1247=) rs772544302 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.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.4034G>A (p.Arg1345His) rs766315655 0.00002
NM_000264.5(PTCH1):c.4081G>A (p.Val1361Met) rs753535745 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.4274C>T (p.Ser1425Leu) rs587778630 0.00002
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly) rs150696398 0.00002
NM_000264.5(PTCH1):c.521C>T (p.Ala174Val) rs772368023 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.1020G>A (p.Glu340=) rs748171767 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.1110G>A (p.Lys370=) rs758977865 0.00001
NM_000264.5(PTCH1):c.1137C>T (p.Tyr379=) rs587780690 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.1206A>G (p.Thr402=) rs1234871751 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.1248T>G (p.Thr416=) rs863224345 0.00001
NM_000264.5(PTCH1):c.1284C>T (p.Asp428=) rs1164371538 0.00001
NM_000264.5(PTCH1):c.1335C>A (p.Gly445=) rs537660949 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.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.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.1628G>A (p.Arg543His) rs150284288 0.00001
NM_000264.5(PTCH1):c.1638C>T (p.Ala546=) rs756682973 0.00001
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=) rs766039170 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.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.228G>A (p.Pro76=) rs140542305 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.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.2704-4G>A rs864622248 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.2767C>T (p.Leu923=) rs1554691697 0.00001
NM_000264.5(PTCH1):c.279C>T (p.Tyr93=) rs142340833 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.2958C>T (p.Asp986=) rs752508525 0.00001
NM_000264.5(PTCH1):c.3033C>T (p.Asn1011=) rs772344953 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.3129C>T (p.Cys1043=) rs746220311 0.00001
NM_000264.5(PTCH1):c.3132T>C (p.Ala1044=) rs1166490973 0.00001
NM_000264.5(PTCH1):c.3156G>A (p.Thr1052=) rs549164233 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.3219C>T (p.Leu1073=) rs771814170 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.3297C>T (p.His1099=) rs1426862267 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.3327C>T (p.Gly1109=) rs779950790 0.00001
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=) rs756638660 0.00001
NM_000264.5(PTCH1):c.3384T>C (p.Asp1128=) rs759078294 0.00001
NM_000264.5(PTCH1):c.342G>A (p.Val114=) rs766365142 0.00001
NM_000264.5(PTCH1):c.3459T>C (p.Phe1153=) rs752031732 0.00001
NM_000264.5(PTCH1):c.3564C>T (p.Asn1188=) rs864622621 0.00001
NM_000264.5(PTCH1):c.3573C>T (p.Asn1191=) rs773389781 0.00001
NM_000264.5(PTCH1):c.357G>C (p.Ala119=) rs377575915 0.00001
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg) rs1564008885 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.3705C>T (p.Ser1235=) rs1051927200 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.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.3804T>C (p.Thr1268=) rs951501624 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.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.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.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.3924A>G (p.Arg1308=) rs762725821 0.00001
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser) rs574856671 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 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.4041C>T (p.His1347=) rs774524114 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.4062C>T (p.Ser1354=) rs750183334 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.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.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.4199G>A (p.Gly1400Asp) rs786204094 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.4308A>G (p.Glu1436=) rs1352453918 0.00001
NM_000264.5(PTCH1):c.447A>G (p.Glu149=) rs948008040 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.594A>G (p.Lys198=) rs1341335793 0.00001
NM_000264.5(PTCH1):c.649G>A (p.Asp217Asn) rs780378700 0.00001
NM_000264.5(PTCH1):c.717G>A (p.Ala239=) rs775723196 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.819T>C (p.Tyr273=) rs1060504534 0.00001
NM_000264.5(PTCH1):c.828C>T (p.Asp276=) rs763432270 0.00001
NM_000264.5(PTCH1):c.840A>G (p.Glu280=) rs770426495 0.00001
NM_000264.5(PTCH1):c.915C>T (p.Pro305=) rs137944857 0.00001
NM_000264.5(PTCH1):c.918C>T (p.Ala306=) rs1005939298 0.00001
NM_000264.5(PTCH1):c.969G>A (p.Leu323=) rs771618979 0.00001
NM_001083603.3(PTCH1):c.135A>G (p.Glu45=) rs777102110 0.00001
NM_000264.5(PTCH1):c.1008C>T (p.His336=) rs1841405475
NM_000264.5(PTCH1):c.1017G>A (p.Glu339=)
NM_000264.5(PTCH1):c.1041C>G (p.Val347=) rs1588608374
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.1071C>G (p.Ala357=) rs1588606079
NM_000264.5(PTCH1):c.1077C>G (p.Ala359=)
NM_000264.5(PTCH1):c.1107C>T (p.Pro369=)
NM_000264.5(PTCH1):c.1143T>C (p.Tyr381=)
NM_000264.5(PTCH1):c.1146C>G (p.Val382=)
NM_000264.5(PTCH1):c.1152C>T (p.His384=) rs200246772
NM_000264.5(PTCH1):c.1185C>T (p.Ile395=)
NM_000264.5(PTCH1):c.1209T>C (p.Tyr403=)
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.1245C>T (p.Ser415=)
NM_000264.5(PTCH1):c.1251A>G (p.Gln417=) rs2118337388
NM_000264.5(PTCH1):c.1260T>G (p.Leu420=)
NM_000264.5(PTCH1):c.1266C>T (p.Phe422=)
NM_000264.5(PTCH1):c.1269C>T (p.Thr423=) rs998906518
NM_000264.5(PTCH1):c.1275G>C (p.Thr425=) rs150837425
NM_000264.5(PTCH1):c.1279C>T (p.Leu427=)
NM_000264.5(PTCH1):c.1290C>T (p.Ile430=)
NM_000264.5(PTCH1):c.1299C>T (p.Ser433=)
NM_000264.5(PTCH1):c.1302C>T (p.Phe434=) rs2118332323
NM_000264.5(PTCH1):c.1305T>A (p.Ser435=) rs1554698806
NM_000264.5(PTCH1):c.1308C>A (p.Asp436Glu) rs148471237
NM_000264.5(PTCH1):c.1314T>C (p.Ser438=)
NM_000264.5(PTCH1):c.1323C>T (p.Arg441=) rs1060504540
NM_000264.5(PTCH1):c.1344C>T (p.Leu448=)
NM_000264.5(PTCH1):c.1347+6G>A rs372655486
NM_000264.5(PTCH1):c.1350C>G (p.Leu450=) rs369109033
NM_000264.5(PTCH1):c.1356T>C (p.Tyr452=) rs2118311917
NM_000264.5(PTCH1):c.1363C>T (p.Leu455=)
NM_000264.5(PTCH1):c.1365A>G (p.Leu455=) rs746805188
NM_000264.5(PTCH1):c.1374G>A (p.Leu458=)
NM_000264.5(PTCH1):c.1395C>G (p.Ser465=)
NM_000264.5(PTCH1):c.1395C>T (p.Ser465=)
NM_000264.5(PTCH1):c.1413G>T (p.Leu471=)
NM_000264.5(PTCH1):c.1419C>G (p.Gly473=) rs774841100
NM_000264.5(PTCH1):c.1423C>T (p.Leu475=)
NM_000264.5(PTCH1):c.1425G>A (p.Leu475=)
NM_000264.5(PTCH1):c.1425G>T (p.Leu475=)
NM_000264.5(PTCH1):c.1435C>T (p.Leu479=) rs1298358252
NM_000264.5(PTCH1):c.1437G>A (p.Leu479=) rs1588600596
NM_000264.5(PTCH1):c.1437G>C (p.Leu479=)
NM_000264.5(PTCH1):c.1453C>T (p.Leu485=)
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.1461G>T (p.Leu487=)
NM_000264.5(PTCH1):c.1468T>C (p.Leu490=)
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=) rs1060504538
NM_000264.5(PTCH1):c.1512A>G (p.Pro504=)
NM_000264.5(PTCH1):c.1518C>T (p.Leu506=) rs1374700325
NM_000264.5(PTCH1):c.1524T>C (p.Leu508=) rs778837458
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val) rs1554698288
NM_000264.5(PTCH1):c.1554G>A (p.Leu518=) rs1841075494
NM_000264.5(PTCH1):c.1575A>G (p.Thr525=)
NM_000264.5(PTCH1):c.1584T>C (p.Asn528=) rs2118280594
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.1603-5C>T rs1588596863
NM_000264.5(PTCH1):c.1611C>T (p.Thr537=) rs780344685
NM_000264.5(PTCH1):c.1620C>T (p.Cys540=) rs1841017295
NM_000264.5(PTCH1):c.1632A>G (p.Thr544=)
NM_000264.5(PTCH1):c.1653G>T (p.Thr551=)
NM_000264.5(PTCH1):c.1656C>T (p.Ser552=)
NM_000264.5(PTCH1):c.1662C>T (p.Ser554=)
NM_000264.5(PTCH1):c.1680C>T (p.Phe560=)
NM_000264.5(PTCH1):c.1686C>G (p.Ala562=) rs2066836
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.168C>T (p.Cys56=) rs2118906879
NM_000264.5(PTCH1):c.1698A>C (p.Pro566=) rs2118250352
NM_000264.5(PTCH1):c.1708C>T (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.1716G>A (p.Ala572=) rs55844310
NM_000264.5(PTCH1):c.1716G>C (p.Ala572=) rs55844310
NM_000264.5(PTCH1):c.171C>T (p.Asp57=) rs1485701312
NM_000264.5(PTCH1):c.1722C>T (p.Ser574=)
NM_000264.5(PTCH1):c.180C>T (p.Phe60=)
NM_000264.5(PTCH1):c.184C>T (p.Leu62=)
NM_000264.5(PTCH1):c.189G>A (p.Glu63=)
NM_000264.5(PTCH1):c.198C>A (p.Ser66=)
NM_000264.5(PTCH1):c.198C>T (p.Ser66=) rs1355794957
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.207G>C (p.Lys69Asn)
NM_000264.5(PTCH1):c.210T>C (p.Ala70=)
NM_000264.5(PTCH1):c.216C>G (p.Gly72=) rs1383963652
NM_000264.5(PTCH1):c.219G>T (p.Arg73=)
NM_000264.5(PTCH1):c.228G>T (p.Pro76=)
NM_000264.5(PTCH1):c.235C>T (p.Leu79=)
NM_000264.5(PTCH1):c.238A>C (p.Arg80=)
NM_000264.5(PTCH1):c.252G>A (p.Gln84=) rs587780698
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=) rs751613059
NM_000264.5(PTCH1):c.2574A>C (p.Ala858=)
NM_000264.5(PTCH1):c.2574A>G (p.Ala858=)
NM_000264.5(PTCH1):c.2592A>G (p.Glu864=) rs1839515955
NM_000264.5(PTCH1):c.2595C>A (p.Thr865=)
NM_000264.5(PTCH1):c.2598G>A (p.Gly866=) rs2136689118
NM_000264.5(PTCH1):c.259T>C (p.Leu87=)
NM_000264.5(PTCH1):c.2601A>G (p.Lys867=) rs568888639
NM_000264.5(PTCH1):c.2613C>T (p.Asn871=)
NM_000264.5(PTCH1):c.2625T>C (p.Asn875=) rs1389183150
NM_000264.5(PTCH1):c.2634C>A (p.Asp878Glu) rs771732591
NM_000264.5(PTCH1):c.2634C>T (p.Asp878=) rs771732591
NM_000264.5(PTCH1):c.2643C>G (p.Val881=) rs1588551617
NM_000264.5(PTCH1):c.2658C>G (p.Leu886=)
NM_000264.5(PTCH1):c.2667A>G (p.Gln889=) rs777777450
NM_000264.5(PTCH1):c.2673C>T (p.Gly891=)
NM_000264.5(PTCH1):c.2679C>A (p.Arg893=)
NM_000264.5(PTCH1):c.2691C>T (p.Ile897=) rs1055193050
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.270G>A (p.Leu90=)
NM_000264.5(PTCH1):c.2724G>T (p.Val908=) rs1564021832
NM_000264.5(PTCH1):c.2736C>A (p.Gly912=)
NM_000264.5(PTCH1):c.2739C>T (p.Ile913=)
NM_000264.5(PTCH1):c.273T>A (p.Gly91=)
NM_000264.5(PTCH1):c.273T>C (p.Gly91=)
NM_000264.5(PTCH1):c.2754T>C (p.Ala918=) rs1588544935
NM_000264.5(PTCH1):c.2763C>A (p.Ile921=)
NM_000264.5(PTCH1):c.2772G>T (p.Thr924=) rs1554691694
NM_000264.5(PTCH1):c.2796C>T (p.Val932=)
NM_000264.5(PTCH1):c.2802T>C (p.Tyr934=)
NM_000264.5(PTCH1):c.2808C>T (p.Ala936=) rs1393599414
NM_000264.5(PTCH1):c.2824C>A (p.Arg942=)
NM_000264.5(PTCH1):c.2826G>A (p.Arg942=) rs934070764
NM_000264.5(PTCH1):c.2829A>G (p.Pro943=) rs150739122
NM_000264.5(PTCH1):c.2853C>T (p.Asp951=)
NM_000264.5(PTCH1):c.2904C>G (p.Pro968=) rs1554691433
NM_000264.5(PTCH1):c.2907C>T (p.Ile969=) rs748318700
NM_000264.5(PTCH1):c.291C>T (p.Asn97=)
NM_000264.5(PTCH1):c.2925T>C (p.Pro975=) rs2136662510
NM_000264.5(PTCH1):c.2931C>T (p.Tyr977=) rs1588540806
NM_000264.5(PTCH1):c.2934C>A (p.Leu978=) rs1588540781
NM_000264.5(PTCH1):c.2943G>A (p.Leu981=)
NM_000264.5(PTCH1):c.2949C>T (p.Asp983=) rs1204950098
NM_000264.5(PTCH1):c.2961T>C (p.Phe987=) rs2136662098
NM_000264.5(PTCH1):c.2982A>T (p.Val994=) rs1588540533
NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)
NM_000264.5(PTCH1):c.3003T>C (p.Tyr1001=) rs1060502298
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val) rs864622620
NM_000264.5(PTCH1):c.3015G>A (p.Gly1005=)
NM_000264.5(PTCH1):c.3018G>A (p.Leu1006=) rs863224350
NM_000264.5(PTCH1):c.3036C>T (p.Gly1012=)
NM_000264.5(PTCH1):c.303C>T (p.Phe101=) rs1425771551
NM_000264.5(PTCH1):c.3042C>T (p.Pro1014=) rs757821035
NM_000264.5(PTCH1):c.3045C>T (p.Phe1015=) rs1404182043
NM_000264.5(PTCH1):c.3048C>G (p.Leu1016=) rs1165046037
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.3075C>G (p.Arg1025=)
NM_000264.5(PTCH1):c.3078C>T (p.His1026=)
NM_000264.5(PTCH1):c.3102G>C (p.Val1034=)
NM_000264.5(PTCH1):c.3105G>A (p.Val1035=) rs2136660293
NM_000264.5(PTCH1):c.3105G>T (p.Val1035=)
NM_000264.5(PTCH1):c.3108G>A (p.Leu1036=)
NM_000264.5(PTCH1):c.3111C>G (p.Ala1037=) rs1009386754
NM_000264.5(PTCH1):c.3114C>T (p.Cys1038=) rs1303636474
NM_000264.5(PTCH1):c.3123C>T (p.Leu1041=) rs1554691356
NM_000264.5(PTCH1):c.312G>T (p.Val104=)
NM_000264.5(PTCH1):c.3132T>G (p.Ala1044=)
NM_000264.5(PTCH1):c.3141T>A (p.Leu1047=)
NM_000264.5(PTCH1):c.3150C>G (p.Pro1050=)
NM_000264.5(PTCH1):c.3156G>T (p.Thr1052=)
NM_000264.5(PTCH1):c.315C>T (p.Gly105=)
NM_000264.5(PTCH1):c.3171G>T (p.Val1057=) rs2136650471
NM_000264.5(PTCH1):c.3177C>G (p.Val1059=)
NM_000264.5(PTCH1):c.3180G>T (p.Leu1060=) rs757268536
NM_000264.5(PTCH1):c.3183G>C (p.Ala1061=) rs878853854
NM_000264.5(PTCH1):c.3195C>G (p.Val1065=) rs370936145
NM_000264.5(PTCH1):c.3199C>T (p.Leu1067=) rs2136649847
NM_000264.5(PTCH1):c.3204C>T (p.Phe1068=) rs762419846
NM_000264.5(PTCH1):c.3216C>G (p.Gly1072=) rs2136649380
NM_000264.5(PTCH1):c.321C>T (p.Leu107=)
NM_000264.5(PTCH1):c.3225A>T (p.Gly1075=) rs757101018
NM_000264.5(PTCH1):c.3231G>A (p.Lys1077=)
NM_000264.5(PTCH1):c.3237T>C (p.Ser1079=) rs1838925156
NM_000264.5(PTCH1):c.3240C>A (p.Ala1080=)
NM_000264.5(PTCH1):c.3256C>T (p.Leu1086=)
NM_000264.5(PTCH1):c.3261C>A (p.Ile1087=) rs768215021
NM_000264.5(PTCH1):c.327T>C (p.Phe109=) rs2118876372
NM_000264.5(PTCH1):c.3288C>T (p.Phe1096=)
NM_000264.5(PTCH1):c.3303T>C (p.Ala1101=)
NM_000264.5(PTCH1):c.3307-4A>C rs1554690494
NM_000264.5(PTCH1):c.3318G>A (p.Thr1106=) rs942699337
NM_000264.5(PTCH1):c.3324C>A (p.Ile1108=)
NM_000264.5(PTCH1):c.3324C>T (p.Ile1108=) rs748117539
NM_000264.5(PTCH1):c.3336C>T (p.Asn1112=)
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.3344C>T (p.Ala1115Val) rs779192138
NM_000264.5(PTCH1):c.3351T>C (p.Leu1117=)
NM_000264.5(PTCH1):c.3355C>T (p.Leu1119=)
NM_000264.5(PTCH1):c.3357G>A (p.Leu1119=) rs1838662525
NM_000264.5(PTCH1):c.3360G>A (p.Glu1120=) rs1554690458
NM_000264.5(PTCH1):c.3363C>T (p.His1121=)
NM_000264.5(PTCH1):c.3378C>G (p.Val1126=)
NM_000264.5(PTCH1):c.3379C>T (p.Leu1127=) rs1032072492
NM_000264.5(PTCH1):c.3393G>A (p.Val1131=) rs1267662604
NM_000264.5(PTCH1):c.339G>A (p.Ala113=)
NM_000264.5(PTCH1):c.339G>C (p.Ala113=) rs756224406
NM_000264.5(PTCH1):c.339G>T (p.Ala113=)
NM_000264.5(PTCH1):c.3402G>A (p.Leu1134=)
NM_000264.5(PTCH1):c.3402G>T (p.Leu1134=)
NM_000264.5(PTCH1):c.3405G>A (p.Leu1135=)
NM_000264.5(PTCH1):c.3408A>C (p.Gly1136=)
NM_000264.5(PTCH1):c.3408A>G (p.Gly1136=) rs769601779
NM_000264.5(PTCH1):c.3412C>T (p.Leu1138=) rs1838654825
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=) rs745948150
NM_000264.5(PTCH1):c.3429T>A (p.Ser1143=) rs778900289
NM_000264.5(PTCH1):c.3438C>T (p.Asp1146=) rs1554690401
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.3486C>T (p.Leu1162=) rs1554689696
NM_000264.5(PTCH1):c.3489C>T (p.Gly1163=) rs2136607957
NM_000264.5(PTCH1):c.3492T>G (p.Val1164=)
NM_000264.5(PTCH1):c.3498T>C (p.Asn1166=)
NM_000264.5(PTCH1):c.3501G>C (p.Gly1167=)
NM_000264.5(PTCH1):c.3501G>T (p.Gly1167=)
NM_000264.5(PTCH1):c.3519G>C (p.Val1173=) rs1588519366
NM_000264.5(PTCH1):c.351A>G (p.Lys117=)
NM_000264.5(PTCH1):c.3540A>C (p.Pro1180=) rs930364103
NM_000264.5(PTCH1):c.3543T>C (p.Tyr1181=)
NM_000264.5(PTCH1):c.3552G>A (p.Val1184=) rs2136603020
NM_000264.5(PTCH1):c.3555T>C (p.Ser1185=) rs1398908173
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys) rs767535853
NM_000264.5(PTCH1):c.3568T>C (p.Leu1190=)
NM_000264.5(PTCH1):c.357G>T (p.Ala119=)
NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=)
NM_000264.5(PTCH1):c.3603C>T (p.Pro1201=)
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.3609C>T (p.Ser1203=) rs200843188
NM_000264.5(PTCH1):c.360C>T (p.Asn120=)
NM_000264.5(PTCH1):c.3612G>T (p.Val1204=)
NM_000264.5(PTCH1):c.3615C>G (p.Val1205=)
NM_000264.5(PTCH1):c.3618C>T (p.Arg1206=)
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.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.363C>G (p.Leu121=)
NM_000264.5(PTCH1):c.363C>T (p.Leu121=)
NM_000264.5(PTCH1):c.3651G>A (p.Gly1217=)
NM_000264.5(PTCH1):c.3654T>C (p.Ser1218=) rs2136600344
NM_000264.5(PTCH1):c.3654T>G (p.Ser1218=)
NM_000264.5(PTCH1):c.3660C>T (p.Ser1220=) rs1171930911
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.3678T>C (p.Ser1226=) rs1588517173
NM_000264.5(PTCH1):c.3684G>A (p.Gln1228=) rs2136599643
NM_000264.5(PTCH1):c.3693G>A (p.Val1231=)
NM_000264.5(PTCH1):c.3693G>C (p.Val1231=)
NM_000264.5(PTCH1):c.3699C>T (p.Gly1233=)
NM_000264.5(PTCH1):c.369C>G (p.Thr123=)
NM_000264.5(PTCH1):c.369C>T (p.Thr123=)
NM_000264.5(PTCH1):c.3702C>T (p.Leu1234=)
NM_000264.5(PTCH1):c.3717G>A (p.Arg1239=) rs1299281832
NM_000264.5(PTCH1):c.3726G>A (p.Glu1242=)
NM_000264.5(PTCH1):c.3729C>G (p.Ala1243=)
NM_000264.5(PTCH1):c.3738C>G (p.Gly1246=)
NM_000264.5(PTCH1):c.3741G>C (p.Ala1247=)
NM_000264.5(PTCH1):c.375G>A (p.Val125=)
NM_000264.5(PTCH1):c.3762G>A (p.Val1254=)
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met) rs150850039
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser) rs970679518
NM_000264.5(PTCH1):c.3798C>T (p.His1266=)
NM_000264.5(PTCH1):c.3810C>A (p.Val1270=)
NM_000264.5(PTCH1):c.3816C>A (p.Pro1272=) rs369295226
NM_000264.5(PTCH1):c.3816C>G (p.Pro1272=)
NM_000264.5(PTCH1):c.3822C>T (p.Ser1274=)
NM_000264.5(PTCH1):c.3823A>C (p.Arg1275=) rs1588512429
NM_000264.5(PTCH1):c.3831C>T (p.His1277=)
NM_000264.5(PTCH1):c.3837C>G (p.Pro1279=) rs1263941339
NM_000264.5(PTCH1):c.3840G>T (p.Ser1280=) rs750770371
NM_000264.5(PTCH1):c.3846G>C (p.Pro1282=)
NM_000264.5(PTCH1):c.3858C>T (p.Pro1286=) rs1222530728
NM_000264.5(PTCH1):c.3861C>T (p.His1287=)
NM_000264.5(PTCH1):c.3867C>T (p.Asp1289=) rs587780704
NM_000264.5(PTCH1):c.3870A>T (p.Ser1290=)
NM_000264.5(PTCH1):c.3888A>C (p.Gly1296=)
NM_000264.5(PTCH1):c.3891G>C (p.Arg1297=)
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.5(PTCH1):c.3909C>T (p.Arg1303=)
NM_000264.5(PTCH1):c.3910A>C (p.Arg1304=)
NM_000264.5(PTCH1):c.3912G>A (p.Arg1304=) rs757702954
NM_000264.5(PTCH1):c.3915C>G (p.Asp1305Glu)
NM_000264.5(PTCH1):c.3918C>T (p.Pro1306=)
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.3933G>A (p.Leu1311=) rs761688859
NM_000264.5(PTCH1):c.3939A>G (p.Pro1313=)
NM_000264.5(PTCH1):c.3942C>T (p.Pro1314=) rs1406247800
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg) rs536440590
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=) rs1554688549
NM_000264.5(PTCH1):c.3966T>G (p.Ala1322=)
NM_000264.5(PTCH1):c.3975T>C (p.Ile1325=)
NM_000264.5(PTCH1):c.3981T>G (p.Thr1327=) rs1588511470
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.3999T>G (p.Pro1333=)
NM_000264.5(PTCH1):c.399A>G (p.Gly133=) rs2118551268
NM_000264.5(PTCH1):c.4002C>T (p.Ser1334=)
NM_000264.5(PTCH1):c.4005T>C (p.Asn1335=) rs1588511343
NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del) rs774819810
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=) rs773564643
NM_000264.5(PTCH1):c.4023T>A (p.Pro1341=)
NM_000264.5(PTCH1):c.4029G>A (p.Gly1343=) rs750057721
NM_000264.5(PTCH1):c.4035T>G (p.Arg1345=)
NM_000264.5(PTCH1):c.4041C>A (p.His1347Gln) rs774524114
NM_000264.5(PTCH1):c.4044C>T (p.Asn1348=) rs1412873206
NM_000264.5(PTCH1):c.4047T>C (p.Pro1349=)
NM_000264.5(PTCH1):c.4048C>A (p.Arg1350=) rs140417636
NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) rs786204103
NM_000264.5(PTCH1):c.4053C>T (p.Asn1351=)
NM_000264.5(PTCH1):c.4065T>A (p.Thr1355=)
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.4087G>C (p.Gly1363Arg) rs767625820
NM_000264.5(PTCH1):c.4089C>T (p.Gly1363=)
NM_000264.5(PTCH1):c.4095C>T (p.Cys1365=) rs864622569
NM_000264.5(PTCH1):c.4104C>T (p.Ile1368=)
NM_000264.5(PTCH1):c.4107C>T (p.Thr1369=)
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.4119T>C (p.Ala1373=)
NM_000264.5(PTCH1):c.4125C>G (p.Ala1375=)
NM_000264.5(PTCH1):c.4125C>T (p.Ala1375=) rs775974258
NM_000264.5(PTCH1):c.4128C>A (p.Ser1376=)
NM_000264.5(PTCH1):c.4134T>A (p.Thr1378=)
NM_000264.5(PTCH1):c.4140C>A (p.Ala1380=)
NM_000264.5(PTCH1):c.4155T>G (p.Pro1385=) rs2136574783
NM_000264.5(PTCH1):c.4164G>A (p.Gly1388=)
NM_000264.5(PTCH1):c.4167T>C (p.Pro1389=)
NM_000264.5(PTCH1):c.4171C>A (p.Arg1391=) rs45535032
NM_000264.5(PTCH1):c.4188A>G (p.Gly1396=) rs2136573868
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.4197A>G (p.Pro1399=)
NM_000264.5(PTCH1):c.4200C>T (p.Gly1400=) rs1554688167
NM_000264.5(PTCH1):c.4203C>T (p.Tyr1401=) rs1588510064
NM_000264.5(PTCH1):c.4215C>T (p.Asp1405=) rs2136573135
NM_000264.5(PTCH1):c.4221C>T (p.Gly1407=)
NM_000264.5(PTCH1):c.4222C>T (p.Leu1408=)
NM_000264.5(PTCH1):c.4230G>A (p.Glu1410=) rs774528758
NM_000264.5(PTCH1):c.4233C>T (p.Asp1411=) rs2136572617
NM_000264.5(PTCH1):c.4236C>A (p.Pro1412=)
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.4242G>T (p.Val1414=)
NM_000264.5(PTCH1):c.4248C>T (p.Phe1416=)
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.4257G>C (p.Arg1419=) rs1588509739
NM_000264.5(PTCH1):c.4258T>C (p.Cys1420Arg) rs864622068
NM_000264.5(PTCH1):c.4263G>A (p.Glu1421=) rs2136571795
NM_000264.5(PTCH1):c.4266G>A (p.Arg1422=)
NM_000264.5(PTCH1):c.426T>C (p.Tyr142=)
NM_000264.5(PTCH1):c.4272T>C (p.Asp1424=)
NM_000264.5(PTCH1):c.4275G>C (p.Ser1425=)
NM_000264.5(PTCH1):c.4275G>T (p.Ser1425=)
NM_000264.5(PTCH1):c.4296G>C (p.Leu1432=)
NM_000264.5(PTCH1):c.4296G>T (p.Leu1432=) rs1554688070
NM_000264.5(PTCH1):c.429T>A (p.Thr143=)
NM_000264.5(PTCH1):c.4323C>T (p.Pro1441=)
NM_000264.5(PTCH1):c.4324C>A (p.Arg1442=)
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val) rs864622100
NM_000264.5(PTCH1):c.4332C>T (p.Ser1444=) rs1325469372
NM_000264.5(PTCH1):c.4335C>T (p.Ser1445=)
NM_000264.5(PTCH1):c.4338C>T (p.Ser1446=)
NM_000264.5(PTCH1):c.438G>A (p.Lys146=)
NM_000264.5(PTCH1):c.453T>G (p.Ala151=) rs879188085
NM_000264.5(PTCH1):c.468A>G (p.Gln156=) rs200729445
NM_000264.5(PTCH1):c.480G>A (p.Gln160=) rs1841921572
NM_000264.5(PTCH1):c.483C>T (p.Thr161=)
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.510G>A (p.Leu170=)
NM_000264.5(PTCH1):c.510G>T (p.Leu170=) rs531730217
NM_000264.5(PTCH1):c.513C>G (p.Thr171=)
NM_000264.5(PTCH1):c.516A>G (p.Thr172=)
NM_000264.5(PTCH1):c.525C>T (p.Leu175=) rs1554702079
NM_000264.5(PTCH1):c.543G>T (p.Ser181=)
NM_000264.5(PTCH1):c.552G>A (p.Gln184=)
NM_000264.5(PTCH1):c.555C>T (p.Ala185=) rs1197767332
NM_000264.5(PTCH1):c.561T>C (p.Arg187=)
NM_000264.5(PTCH1):c.564C>G (p.Val188=) rs963079015
NM_000264.5(PTCH1):c.564C>T (p.Val188=)
NM_000264.5(PTCH1):c.573C>T (p.Tyr191=) rs1249050389
NM_000264.5(PTCH1):c.585-5A>G rs1588614746
NM_000264.5(PTCH1):c.595T>C (p.Leu199=) rs2118474956
NM_000264.5(PTCH1):c.606G>A (p.Leu202=) rs769719333
NM_000264.5(PTCH1):c.618A>G (p.Ser206=) rs1841594710
NM_000264.5(PTCH1):c.636A>G (p.Glu212=)
NM_000264.5(PTCH1):c.645C>T (p.Tyr215=) rs878853858
NM_000264.5(PTCH1):c.657A>C (p.Ile219=)
NM_000264.5(PTCH1):c.663A>G (p.Glu221=) rs1479973586
NM_000264.5(PTCH1):c.672C>T (p.Tyr224=) rs1588614178
NM_000264.5(PTCH1):c.675T>A (p.Pro225=)
NM_000264.5(PTCH1):c.693T>C (p.Pro231=)
NM_000264.5(PTCH1):c.702C>T (p.Cys234=)
NM_000264.5(PTCH1):c.705C>T (p.Phe235=)
NM_000264.5(PTCH1):c.726G>A (p.Gln242=)
NM_000264.5(PTCH1):c.750T>G (p.Gly250=)
NM_000264.5(PTCH1):c.765G>T (p.Arg255=) rs2118427794
NM_000264.5(PTCH1):c.771A>G (p.Thr257=) rs2118427410
NM_000264.5(PTCH1):c.783T>G (p.Pro261=) rs1554699996
NM_000264.5(PTCH1):c.795G>A (p.Leu265=)
NM_000264.5(PTCH1):c.798A>G (p.Glu266=)
NM_000264.5(PTCH1):c.804A>G (p.Leu268=)
NM_000264.5(PTCH1):c.816C>T (p.Asn272=)
NM_000264.5(PTCH1):c.822A>G (p.Gln274=)
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.846G>A (p.Leu282=)
NM_000264.5(PTCH1):c.855T>C (p.Ala285=)
NM_000264.5(PTCH1):c.879C>T (p.Asp293=)
NM_000264.5(PTCH1):c.885C>T (p.Pro295=)
NM_000264.5(PTCH1):c.897G>C (p.Pro299=) rs56141639
NM_000264.5(PTCH1):c.903T>C (p.Asp301=)
NM_000264.5(PTCH1):c.906A>T (p.Pro302=)
NM_000264.5(PTCH1):c.939A>G (p.Ser313=) rs1841439010
NM_000264.5(PTCH1):c.954T>C (p.Asp318=)
NM_000264.5(PTCH1):c.960C>T (p.Ala320=)
NM_000264.5(PTCH1):c.972T>C (p.Asn324=) rs759157693
NM_000264.5(PTCH1):c.981T>C (p.Cys327=) rs2118394148
NM_000264.5(PTCH1):c.990A>G (p.Leu330=)
NM_000264.5(PTCH1):c.999G>A (p.Lys333=)
NM_001083603.3(PTCH1):c.130GAA[4] (p.Glu48del) rs112914470
NM_001083603.3(PTCH1):c.130GAA[6] (p.Glu48_Asn49insGlu) rs112914470
NM_001083603.3(PTCH1):c.4del (p.Glu2fs) rs752765582

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