ClinVar Miner

List of variants in gene PTCH1 reported as likely benign for Gorlin syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1297
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_000264.5(PTCH1):c.3805-9C>T rs2236404 0.00072
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
NM_000264.5(PTCH1):c.3449+15G>A rs190483719 0.00052
NM_000264.5(PTCH1):c.1080G>A (p.Leu360=) rs2066839 0.00049
NM_000264.5(PTCH1):c.1183A>G (p.Ile395Val) rs139498131 0.00043
NM_000264.5(PTCH1):c.*450A>C rs192994934 0.00041
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979 0.00041
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000264.5(PTCH1):c.2887+10G>A rs202081420 0.00031
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417 0.00025
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.3919C>T (p.Pro1307Ser) rs574880967 0.00021
NM_000264.5(PTCH1):c.1488C>T (p.Asn496=) rs577742581 0.00020
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828 0.00020
NM_000264.5(PTCH1):c.1661G>A (p.Ser554Asn) rs148367880 0.00019
NM_000264.5(PTCH1):c.1728+16T>A rs758961945 0.00017
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.346T>C (p.Leu116=) rs576398790 0.00015
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met) rs149667902 0.00014
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.896C>T (p.Pro299Leu) rs141939274 0.00012
NM_000264.5(PTCH1):c.2561-7T>C rs112140654 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.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.2771C>T (p.Thr924Met) rs1456450494 0.00009
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=) rs369295226 0.00009
NM_000264.5(PTCH1):c.1308C>T (p.Asp436=) rs148471237 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.201+19C>T rs765308113 0.00007
NM_000264.5(PTCH1):c.2794G>A (p.Val932Ile) rs376084632 0.00007
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629 0.00007
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg) rs767792734 0.00007
NM_000264.5(PTCH1):c.3805-14C>G rs771678354 0.00007
NM_000264.5(PTCH1):c.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.3449+11G>A rs568528640 0.00006
NM_000264.5(PTCH1):c.3516C>T (p.Pro1172=) rs775292833 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.1404C>T (p.Ala468=) rs201246004 0.00005
NM_000264.5(PTCH1):c.2704-10G>A rs566679986 0.00005
NM_000264.5(PTCH1):c.2704-11C>T rs779097397 0.00005
NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln) rs201118857 0.00005
NM_000264.5(PTCH1):c.3178C>T (p.Leu1060=) rs765072884 0.00005
NM_000264.5(PTCH1):c.3561C>G (p.Ala1187=) rs1161608601 0.00005
NM_000264.5(PTCH1):c.4256G>A (p.Arg1419Gln) rs372686352 0.00005
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 0.00004
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser) rs181192122 0.00004
NM_000264.5(PTCH1):c.2561-10C>T rs763935951 0.00004
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573 0.00004
NM_000264.5(PTCH1):c.2703+14T>C rs764551190 0.00004
NM_000264.5(PTCH1):c.2814G>A (p.Gln938=) rs587780534 0.00004
NM_000264.5(PTCH1):c.2865C>T (p.Tyr955=) rs764854579 0.00004
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val) rs587780699 0.00004
NM_000264.5(PTCH1):c.2892G>A (p.Pro964=) rs377213209 0.00004
NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met) rs769924767 0.00004
NM_000264.5(PTCH1):c.3169-11C>T rs377346472 0.00004
NM_000264.5(PTCH1):c.3338G>A (p.Arg1113His) rs143781513 0.00004
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val) rs376844749 0.00004
NM_000264.5(PTCH1):c.3450-15C>T rs755474627 0.00004
NM_000264.5(PTCH1):c.3549+14C>T rs753297713 0.00004
NM_000264.5(PTCH1):c.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.394+12C>T rs371356396 0.00004
NM_000264.5(PTCH1):c.3948C>T (p.Tyr1316=) rs778029634 0.00004
NM_000264.5(PTCH1):c.3960A>G (p.Arg1320=) rs371761874 0.00004
NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys) rs781539921 0.00004
NM_000264.5(PTCH1):c.4059G>A (p.Ala1353=) rs368110756 0.00004
NM_000264.5(PTCH1):c.4137C>T (p.Val1379=) rs149091602 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000264.5(PTCH1):c.4275G>A (p.Ser1425=) rs756270271 0.00004
NM_000264.5(PTCH1):c.4281G>A (p.Val1427=) rs767698482 0.00004
NM_000264.5(PTCH1):c.584+10G>A rs765713791 0.00004
NM_000264.5(PTCH1):c.584+19A>G rs374707429 0.00004
NM_000264.5(PTCH1):c.588G>A (p.Gln196=) rs775859621 0.00004
NM_000264.5(PTCH1):c.624G>A (p.Glu208=) rs777231059 0.00004
NM_000264.5(PTCH1):c.897G>A (p.Pro299=) rs56141639 0.00004
NM_000264.5(PTCH1):c.1164C>T (p.Asn388=) rs201602238 0.00003
NM_000264.5(PTCH1):c.1215+19C>T rs755461123 0.00003
NM_000264.5(PTCH1):c.1293G>A (p.Leu431=) rs200313703 0.00003
NM_000264.5(PTCH1):c.1347+10G>A rs370916305 0.00003
NM_000264.5(PTCH1):c.1347+15C>T rs377622963 0.00003
NM_000264.5(PTCH1):c.1348-4G>A rs772826555 0.00003
NM_000264.5(PTCH1):c.1350C>T (p.Leu450=) rs369109033 0.00003
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile) rs766898310 0.00003
NM_000264.5(PTCH1):c.1473C>T (p.Ile491=) rs768183391 0.00003
NM_000264.5(PTCH1):c.1608G>A (p.Arg536=) rs747086234 0.00003
NM_000264.5(PTCH1):c.201+16T>C rs766739273 0.00003
NM_000264.5(PTCH1):c.2751C>T (p.Ser917=) rs768127089 0.00003
NM_000264.5(PTCH1):c.2788G>A (p.Asp930Asn) rs539755311 0.00003
NM_000264.5(PTCH1):c.2850C>T (p.His950=) rs200776583 0.00003
NM_000264.5(PTCH1):c.2887+19G>C rs778051088 0.00003
NM_000264.5(PTCH1):c.2988C>T (p.Thr996=) rs759501618 0.00003
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val) rs774440323 0.00003
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=) rs751797047 0.00003
NM_000264.5(PTCH1):c.3201G>C (p.Leu1067=) rs370906015 0.00003
NM_000264.5(PTCH1):c.3246C>T (p.Pro1082=) rs750725851 0.00003
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=) rs141016655 0.00003
NM_000264.5(PTCH1):c.3371C>T (p.Ala1124Val) rs374187104 0.00003
NM_000264.5(PTCH1):c.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.3904C>T (p.Pro1302Ser) rs747093389 0.00003
NM_000264.5(PTCH1):c.4087G>A (p.Gly1363Ser) rs767625820 0.00003
NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp) rs45535032 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.654+13C>G rs746323188 0.00003
NM_000264.5(PTCH1):c.655-12T>C rs376472172 0.00003
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro) rs372422922 0.00003
NM_000264.5(PTCH1):c.899C>T (p.Ala300Val) rs1421967825 0.00003
NM_000264.5(PTCH1):c.900C>T (p.Ala300=) rs201962105 0.00003
NM_000264.5(PTCH1):c.930C>T (p.Asn310=) rs768166430 0.00003
NM_000264.5(PTCH1):c.945+19C>T rs538776608 0.00003
NM_000264.5(PTCH1):c.975T>C (p.Gly325=) rs149018937 0.00003
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn) rs779294007 0.00002
NM_000264.5(PTCH1):c.1067+14C>T rs759069478 0.00002
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys) rs144323077 0.00002
NM_000264.5(PTCH1):c.1140G>A (p.Glu380=) rs764896299 0.00002
NM_000264.5(PTCH1):c.1216-10G>A rs587780691 0.00002
NM_000264.5(PTCH1):c.1275G>A (p.Thr425=) rs150837425 0.00002
NM_000264.5(PTCH1):c.1332C>T (p.Ser444=) rs373930674 0.00002
NM_000264.5(PTCH1):c.1348-20C>T rs771558986 0.00002
NM_000264.5(PTCH1):c.1376G>A (p.Arg459His) rs140537949 0.00002
NM_000264.5(PTCH1):c.1504-3dup rs762810537 0.00002
NM_000264.5(PTCH1):c.1551T>C (p.Leu517=) rs983687905 0.00002
NM_000264.5(PTCH1):c.1593C>T (p.Ile531=) rs587780694 0.00002
NM_000264.5(PTCH1):c.1629C>T (p.Arg543=) rs557468315 0.00002
NM_000264.5(PTCH1):c.217C>T (p.Arg73Trp) rs751511116 0.00002
NM_000264.5(PTCH1):c.237G>A (p.Leu79=) rs547602299 0.00002
NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys) rs151310492 0.00002
NM_000264.5(PTCH1):c.2610A>C (p.Pro870=) rs762087413 0.00002
NM_000264.5(PTCH1):c.2793C>T (p.Pro931=) rs1162747889 0.00002
NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=) rs142362404 0.00002
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=) rs755755175 0.00002
NM_000264.5(PTCH1):c.3124G>A (p.Val1042Met) rs772406487 0.00002
NM_000264.5(PTCH1):c.3159C>T (p.Ala1053=) rs780700622 0.00002
NM_000264.5(PTCH1):c.3183G>A (p.Ala1061=) rs878853854 0.00002
NM_000264.5(PTCH1):c.3222C>T (p.Ile1074=) rs749448606 0.00002
NM_000264.5(PTCH1):c.3298G>A (p.Val1100Ile) rs577110118 0.00002
NM_000264.5(PTCH1):c.3429T>C (p.Ser1143=) rs778900289 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.3686C>T (p.Thr1229Met) rs781080456 0.00002
NM_000264.5(PTCH1):c.3741G>A (p.Ala1247=) rs772544302 0.00002
NM_000264.5(PTCH1):c.3793G>A (p.Ala1265Thr) rs759791227 0.00002
NM_000264.5(PTCH1):c.382C>T (p.Leu128=) rs772674190 0.00002
NM_000264.5(PTCH1):c.3846G>A (p.Pro1282=) rs754412168 0.00002
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr) rs368528885 0.00002
NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp) rs773043616 0.00002
NM_000264.5(PTCH1):c.3956G>A (p.Arg1319His) rs572658914 0.00002
NM_000264.5(PTCH1):c.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.4081G>A (p.Val1361Met) rs753535745 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.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.521C>T (p.Ala174Val) rs772368023 0.00002
NM_000264.5(PTCH1):c.584+13G>A rs529799940 0.00002
NM_000264.5(PTCH1):c.654+4T>C rs758839801 0.00002
NM_000264.5(PTCH1):c.655-5G>T rs776683312 0.00002
NM_000264.5(PTCH1):c.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.1020G>A (p.Glu340=) rs748171767 0.00001
NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg) rs1476325987 0.00001
NM_000264.5(PTCH1):c.1067+15G>A rs773933111 0.00001
NM_000264.5(PTCH1):c.1068-9G>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.1104T>C (p.Thr368=) rs1436332323 0.00001
NM_000264.5(PTCH1):c.1110G>A (p.Lys370=) rs758977865 0.00001
NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu) rs863224648 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.1193C>T (p.Ala398Val) rs375098989 0.00001
NM_000264.5(PTCH1):c.1206A>G (p.Thr402=) rs1234871751 0.00001
NM_000264.5(PTCH1):c.1215+10C>T rs1444052168 0.00001
NM_000264.5(PTCH1):c.1218G>A (p.Val406=) rs753586235 0.00001
NM_000264.5(PTCH1):c.1233C>T (p.Val411=) rs752518133 0.00001
NM_000264.5(PTCH1):c.1248T>G (p.Thr416=) rs863224345 0.00001
NM_000264.5(PTCH1):c.1262C>G (p.Ser421Cys) rs1285775586 0.00001
NM_000264.5(PTCH1):c.1284C>T (p.Asp428=) rs1164371538 0.00001
NM_000264.5(PTCH1):c.1317C>T (p.Val439=) rs755904085 0.00001
NM_000264.5(PTCH1):c.1318A>G (p.Ile440Val) rs752530755 0.00001
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His) rs767273237 0.00001
NM_000264.5(PTCH1):c.1335C>A (p.Gly445=) rs537660949 0.00001
NM_000264.5(PTCH1):c.1347+16A>G rs779587353 0.00001
NM_000264.5(PTCH1):c.1347+17T>C rs373179629 0.00001
NM_000264.5(PTCH1):c.1347+19C>T rs748811098 0.00001
NM_000264.5(PTCH1):c.1347+5C>T rs567257548 0.00001
NM_000264.5(PTCH1):c.1347+9C>T rs775905392 0.00001
NM_000264.5(PTCH1):c.1353C>G (p.Ala451=) rs754741810 0.00001
NM_000264.5(PTCH1):c.1353C>T (p.Ala451=) rs754741810 0.00001
NM_000264.5(PTCH1):c.1391A>G (p.Lys464Arg) rs756171491 0.00001
NM_000264.5(PTCH1):c.1407G>A (p.Val469=) rs1378167817 0.00001
NM_000264.5(PTCH1):c.1413G>A (p.Leu471=) rs1588600742 0.00001
NM_000264.5(PTCH1):c.1419C>T (p.Gly473=) rs774841100 0.00001
NM_000264.5(PTCH1):c.1431T>C (p.Val477=) rs147162848 0.00001
NM_000264.5(PTCH1):c.1461G>A (p.Leu487=) rs1398912905 0.00001
NM_000264.5(PTCH1):c.1467A>G (p.Ser489=) rs747623182 0.00001
NM_000264.5(PTCH1):c.1489G>A (p.Ala497Thr) rs1398130707 0.00001
NM_000264.5(PTCH1):c.1503+19A>T rs201193230 0.00001
NM_000264.5(PTCH1):c.1503+6A>G rs1841148776 0.00001
NM_000264.5(PTCH1):c.1503+9G>A rs1188833495 0.00001
NM_000264.5(PTCH1):c.1504-4del rs1182409968 0.00001
NM_000264.5(PTCH1):c.1519G>A (p.Ala507Thr) rs745669155 0.00001
NM_000264.5(PTCH1):c.1552C>T (p.Leu518=) rs1163742413 0.00001
NM_000264.5(PTCH1):c.1557C>T (p.Ala519=) rs749296474 0.00001
NM_000264.5(PTCH1):c.1560C>T (p.His520=) rs952270018 0.00001
NM_000264.5(PTCH1):c.1603-16G>T rs1269440132 0.00001
NM_000264.5(PTCH1):c.1603-9T>A rs1471375018 0.00001
NM_000264.5(PTCH1):c.1628G>A (p.Arg543His) rs150284288 0.00001
NM_000264.5(PTCH1):c.1638C>T (p.Ala546=) rs756682973 0.00001
NM_000264.5(PTCH1):c.164A>T (p.Tyr55Phe) rs1205081001 0.00001
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=) rs766039170 0.00001
NM_000264.5(PTCH1):c.166T>G (p.Cys56Gly) rs1340609158 0.00001
NM_000264.5(PTCH1):c.1674C>T (p.Ala558=) rs1227537345 0.00001
NM_000264.5(PTCH1):c.1704C>T (p.Pro568=) rs912977281 0.00001
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln) rs377566861 0.00001
NM_000264.5(PTCH1):c.1728+15A>G rs771991404 0.00001
NM_000264.5(PTCH1):c.1728+7T>C rs776735470 0.00001
NM_000264.5(PTCH1):c.198C>G (p.Ser66=) rs1355794957 0.00001
NM_000264.5(PTCH1):c.201+17C>A rs750650083 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.219G>A (p.Arg73=) rs944623019 0.00001
NM_000264.5(PTCH1):c.2561-20C>A rs1361292543 0.00001
NM_000264.5(PTCH1):c.2580C>T (p.Asp860=) rs1839517366 0.00001
NM_000264.5(PTCH1):c.2593A>G (p.Thr865Ala) rs1186399866 0.00001
NM_000264.5(PTCH1):c.2596G>A (p.Gly866Arg) rs765578315 0.00001
NM_000264.5(PTCH1):c.2622G>A (p.Lys874=) rs747560273 0.00001
NM_000264.5(PTCH1):c.2670C>T (p.Thr890=) rs770685875 0.00001
NM_000264.5(PTCH1):c.2679C>T (p.Arg893=) rs752658093 0.00001
NM_000264.5(PTCH1):c.2685G>A (p.Lys895=) rs1431878972 0.00001
NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val) rs765371196 0.00001
NM_000264.5(PTCH1):c.2699G>A (p.Ser900Asn) rs762152128 0.00001
NM_000264.5(PTCH1):c.2703+13C>T rs1431171944 0.00001
NM_000264.5(PTCH1):c.2704-13C>T rs1447832961 0.00001
NM_000264.5(PTCH1):c.2704-4G>A rs864622248 0.00001
NM_000264.5(PTCH1):c.2704-5T>C rs1023491715 0.00001
NM_000264.5(PTCH1):c.2717G>A (p.Arg906His) rs764310195 0.00001
NM_000264.5(PTCH1):c.2739C>A (p.Ile913=) rs1305314328 0.00001
NM_000264.5(PTCH1):c.2761A>G (p.Ile921Val) rs760174192 0.00001
NM_000264.5(PTCH1):c.2767C>T (p.Leu923=) rs1554691697 0.00001
NM_000264.5(PTCH1):c.279C>T (p.Tyr93=) rs142340833 0.00001
NM_000264.5(PTCH1):c.2820C>T (p.Asn940=) rs778138969 0.00001
NM_000264.5(PTCH1):c.2839G>C (p.Glu947Gln) rs768039033 0.00001
NM_000264.5(PTCH1):c.285A>G (p.Gln95=) rs140051386 0.00001
NM_000264.5(PTCH1):c.2860G>A (p.Asp954Asn) rs772662871 0.00001
NM_000264.5(PTCH1):c.2887+17C>T rs771970960 0.00001
NM_000264.5(PTCH1):c.2887+18G>A rs749377356 0.00001
NM_000264.5(PTCH1):c.2887+9C>T rs746863062 0.00001
NM_000264.5(PTCH1):c.2888-6G>A rs775208484 0.00001
NM_000264.5(PTCH1):c.2891C>T (p.Pro964Leu) rs377120922 0.00001
NM_000264.5(PTCH1):c.2910G>A (p.Glu970=) rs147044276 0.00001
NM_000264.5(PTCH1):c.2929T>C (p.Tyr977His) rs587780700 0.00001
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser) rs758907408 0.00001
NM_000264.5(PTCH1):c.2955A>C (p.Ser985=) rs1060504532 0.00001
NM_000264.5(PTCH1):c.2958C>T (p.Asp986=) rs752508525 0.00001
NM_000264.5(PTCH1):c.295G>T (p.Gly99Cys) rs1036074195 0.00001
NM_000264.5(PTCH1):c.2965G>A (p.Glu989Lys) rs1472299295 0.00001
NM_000264.5(PTCH1):c.3008G>A (p.Ser1003Asn) rs769866360 0.00001
NM_000264.5(PTCH1):c.3033C>T (p.Asn1011=) rs772344953 0.00001
NM_000264.5(PTCH1):c.3034G>A (p.Gly1012Ser) rs187813269 0.00001
NM_000264.5(PTCH1):c.3070C>G (p.Leu1024Val) rs759405378 0.00001
NM_000264.5(PTCH1):c.3074G>A (p.Arg1025His) rs370150142 0.00001
NM_000264.5(PTCH1):c.3090G>C (p.Leu1030=) rs764111126 0.00001
NM_000264.5(PTCH1):c.3099C>T (p.Ser1033=) rs1256956712 0.00001
NM_000264.5(PTCH1):c.3111C>T (p.Ala1037=) rs1009386754 0.00001
NM_000264.5(PTCH1):c.3117A>G (p.Thr1039=) rs775579178 0.00001
NM_000264.5(PTCH1):c.311T>C (p.Val104Ala) rs746275162 0.00001
NM_000264.5(PTCH1):c.3129C>T (p.Cys1043=) rs746220311 0.00001
NM_000264.5(PTCH1):c.3132T>C (p.Ala1044=) rs1166490973 0.00001
NM_000264.5(PTCH1):c.3149C>T (p.Pro1050Leu) rs1420175816 0.00001
NM_000264.5(PTCH1):c.3168+16G>C rs754733018 0.00001
NM_000264.5(PTCH1):c.3219C>T (p.Leu1073=) rs771814170 0.00001
NM_000264.5(PTCH1):c.3220A>G (p.Ile1074Val) rs745626835 0.00001
NM_000264.5(PTCH1):c.3239C>T (p.Ala1080Val) rs781188522 0.00001
NM_000264.5(PTCH1):c.3261C>T (p.Ile1087=) rs768215021 0.00001
NM_000264.5(PTCH1):c.3264T>A (p.Ala1088=) rs1361137530 0.00001
NM_000264.5(PTCH1):c.3293T>C (p.Val1098Ala) rs1291842090 0.00001
NM_000264.5(PTCH1):c.3297C>T (p.His1099=) rs1426862267 0.00001
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala) rs1060502284 0.00001
NM_000264.5(PTCH1):c.3313C>T (p.Leu1105=) rs773043594 0.00001
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met) rs769691754 0.00001
NM_000264.5(PTCH1):c.3325G>A (p.Gly1109Ser) rs1344231723 0.00001
NM_000264.5(PTCH1):c.3347T>A (p.Val1116Glu) rs863224653 0.00001
NM_000264.5(PTCH1):c.3384T>C (p.Asp1128=) rs759078294 0.00001
NM_000264.5(PTCH1):c.3388G>A (p.Ala1130Thr) rs766037357 0.00001
NM_000264.5(PTCH1):c.342G>A (p.Val114=) rs766365142 0.00001
NM_000264.5(PTCH1):c.3449+10C>T rs371546179 0.00001
NM_000264.5(PTCH1):c.3449+7A>T rs374907800 0.00001
NM_000264.5(PTCH1):c.3450-20G>A rs781454030 0.00001
NM_000264.5(PTCH1):c.3459T>C (p.Phe1153=) rs752031732 0.00001
NM_000264.5(PTCH1):c.3472A>C (p.Ile1158Leu) rs368636457 0.00001
NM_000264.5(PTCH1):c.3477C>T (p.Leu1159=) rs1838313389 0.00001
NM_000264.5(PTCH1):c.3479C>G (p.Thr1160Ser) rs147633236 0.00001
NM_000264.5(PTCH1):c.3490G>A (p.Val1164Ile) rs371346118 0.00001
NM_000264.5(PTCH1):c.3529T>G (p.Phe1177Val) rs772200521 0.00001
NM_000264.5(PTCH1):c.3564C>T (p.Asn1188=) rs864622621 0.00001
NM_000264.5(PTCH1):c.3573C>T (p.Asn1191=) rs773389781 0.00001
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys) rs571420165 0.00001
NM_000264.5(PTCH1):c.357G>C (p.Ala119=) rs377575915 0.00001
NM_000264.5(PTCH1):c.3605C>G (p.Pro1202Arg) rs374097441 0.00001
NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr) rs945517672 0.00001
NM_000264.5(PTCH1):c.3636C>T (p.Gly1212=) rs751560737 0.00001
NM_000264.5(PTCH1):c.3645C>T (p.His1215=) rs760927638 0.00001
NM_000264.5(PTCH1):c.3655G>C (p.Asp1219His) rs774833489 0.00001
NM_000264.5(PTCH1):c.3668C>T (p.Ser1223Leu) rs769287098 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.3738C>T (p.Gly1246=) rs771308724 0.00001
NM_000264.5(PTCH1):c.3748C>T (p.Pro1250Ser) rs1060502265 0.00001
NM_000264.5(PTCH1):c.3756C>T (p.His1252=) rs768484663 0.00001
NM_000264.5(PTCH1):c.3759A>G (p.Gln1253=) rs1220180319 0.00001
NM_000264.5(PTCH1):c.3765C>T (p.Ile1255=) rs758229027 0.00001
NM_000264.5(PTCH1):c.3804+18A>G rs1838202750 0.00001
NM_000264.5(PTCH1):c.3805-19C>T rs375522977 0.00001
NM_000264.5(PTCH1):c.3805-20C>T rs1264140680 0.00001
NM_000264.5(PTCH1):c.3805-8C>G rs1056411006 0.00001
NM_000264.5(PTCH1):c.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.3924A>G (p.Arg1308=) rs762725821 0.00001
NM_000264.5(PTCH1):c.394+10C>T rs755119764 0.00001
NM_000264.5(PTCH1):c.394+13G>T rs1444907229 0.00001
NM_000264.5(PTCH1):c.394+15C>G rs771281691 0.00001
NM_000264.5(PTCH1):c.394+18G>A rs749589611 0.00001
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser) rs574856671 0.00001
NM_000264.5(PTCH1):c.395-12C>T rs374019375 0.00001
NM_000264.5(PTCH1):c.395-9A>G rs781395697 0.00001
NM_000264.5(PTCH1):c.3951A>G (p.Arg1317=) rs1211632031 0.00001
NM_000264.5(PTCH1):c.3975T>A (p.Ile1325=) rs45504199 0.00001
NM_000264.5(PTCH1):c.4014C>T (p.Arg1338=) rs1257662475 0.00001
NM_000264.5(PTCH1):c.4041C>T (p.His1347=) rs774524114 0.00001
NM_000264.5(PTCH1):c.4042A>G (p.Asn1348Asp) rs766576144 0.00001
NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser) rs371943557 0.00001
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=) rs748440992 0.00001
NM_000264.5(PTCH1):c.4062C>T (p.Ser1354=) rs750183334 0.00001
NM_000264.5(PTCH1):c.4063A>G (p.Thr1355Ala) rs864622456 0.00001
NM_000264.5(PTCH1):c.4094G>A (p.Cys1365Tyr) rs1397510746 0.00001
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys) rs139535966 0.00001
NM_000264.5(PTCH1):c.413G>A (p.Arg138His) rs763774051 0.00001
NM_000264.5(PTCH1):c.4146C>T (p.His1382=) rs1207158056 0.00001
NM_000264.5(PTCH1):c.4149G>A (p.Pro1383=) rs56230654 0.00001
NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=) rs761887390 0.00001
NM_000264.5(PTCH1):c.4167T>A (p.Pro1389=) rs531218594 0.00001
NM_000264.5(PTCH1):c.4170G>A (p.Gly1390=) rs201118928 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.430C>T (p.Arg144Cys) rs587780705 0.00001
NM_000264.5(PTCH1):c.447A>G (p.Glu149=) rs948008040 0.00001
NM_000264.5(PTCH1):c.451G>T (p.Ala151Ser) rs751024812 0.00001
NM_000264.5(PTCH1):c.485C>G (p.Pro162Arg) rs770046324 0.00001
NM_000264.5(PTCH1):c.522G>A (p.Ala174=) rs891032185 0.00001
NM_000264.5(PTCH1):c.526C>T (p.Leu176=) rs2066834 0.00001
NM_000264.5(PTCH1):c.528A>G (p.Leu176=) rs771039964 0.00001
NM_000264.5(PTCH1):c.534C>T (p.His178=) rs749224677 0.00001
NM_000264.5(PTCH1):c.542C>T (p.Ser181Leu) rs868350953 0.00001
NM_000264.5(PTCH1):c.545C>T (p.Ala182Val) rs567721919 0.00001
NM_000264.5(PTCH1):c.552G>T (p.Gln184His) rs369893129 0.00001
NM_000264.5(PTCH1):c.584+12C>T rs375797579 0.00001
NM_000264.5(PTCH1):c.584+15G>A rs368571192 0.00001
NM_000264.5(PTCH1):c.584+18C>T rs775769741 0.00001
NM_000264.5(PTCH1):c.584+9C>T rs750895460 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.655-17C>G rs1028803378 0.00001
NM_000264.5(PTCH1):c.671A>T (p.Tyr224Phe) rs747205016 0.00001
NM_000264.5(PTCH1):c.717G>A (p.Ala239=) rs775723196 0.00001
NM_000264.5(PTCH1):c.746+7G>A rs369770500 0.00001
NM_000264.5(PTCH1):c.747-20T>C rs778453806 0.00001
NM_000264.5(PTCH1):c.747-8T>C rs780639292 0.00001
NM_000264.5(PTCH1):c.747-9C>A rs747672519 0.00001
NM_000264.5(PTCH1):c.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.832T>G (p.Trp278Gly) rs1219459429 0.00001
NM_000264.5(PTCH1):c.840A>G (p.Glu280=) rs770426495 0.00001
NM_000264.5(PTCH1):c.881G>A (p.Arg294His) rs878853859 0.00001
NM_000264.5(PTCH1):c.895C>T (p.Pro299Ser) rs745669231 0.00001
NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg) rs1487227339 0.00001
NM_000264.5(PTCH1):c.915C>T (p.Pro305=) rs137944857 0.00001
NM_000264.5(PTCH1):c.916G>A (p.Ala306Thr) rs547776340 0.00001
NM_000264.5(PTCH1):c.918C>T (p.Ala306=) rs1005939298 0.00001
NM_000264.5(PTCH1):c.920C>T (p.Thr307Ile) rs1255733467 0.00001
NM_000264.5(PTCH1):c.926C>T (p.Pro309Leu) rs762382517 0.00001
NM_000264.5(PTCH1):c.945+10A>C rs771708898 0.00001
NM_000264.5(PTCH1):c.946-18G>T rs1447732065 0.00001
NM_000264.5(PTCH1):c.969G>A (p.Leu323=) rs771618979 0.00001
NM_000264.5(PTCH1):c.*1866TG[10] rs59205702
NM_000264.5(PTCH1):c.*1893GT[4] rs531572088
NM_000264.5(PTCH1):c.*2988TTGT[1] rs139748418
NM_000264.5(PTCH1):c.*748_*749insACTT rs147342582
NM_000264.5(PTCH1):c.*748_*749insATTT rs1554687587
NM_000264.5(PTCH1):c.1004T>C (p.Met335Thr) rs749049752
NM_000264.5(PTCH1):c.1008C>T (p.His336=) rs1841405475
NM_000264.5(PTCH1):c.1023G>A (p.Leu341=)
NM_000264.5(PTCH1):c.1026T>A (p.Ile342=)
NM_000264.5(PTCH1):c.1026T>C (p.Ile342=)
NM_000264.5(PTCH1):c.1027G>A (p.Val343Met) rs1564054554
NM_000264.5(PTCH1):c.1031G>A (p.Gly344Asp) rs758585782
NM_000264.5(PTCH1):c.1041C>G (p.Val347=) rs1588608374
NM_000264.5(PTCH1):c.1041C>T (p.Val347=) rs1588608374
NM_000264.5(PTCH1):c.1047C>T (p.Asn349=) rs2118388662
NM_000264.5(PTCH1):c.1053T>C (p.Thr351=)
NM_000264.5(PTCH1):c.1059A>G (p.Lys353=) rs1588608299
NM_000264.5(PTCH1):c.1062C>G (p.Leu354=) rs1554699558
NM_000264.5(PTCH1):c.1062C>T (p.Leu354=) rs1554699558
NM_000264.5(PTCH1):c.1065C>G (p.Val355=) rs2118387266
NM_000264.5(PTCH1):c.1067+16A>C
NM_000264.5(PTCH1):c.1067+20C>T rs1015971517
NM_000264.5(PTCH1):c.1067+7C>G rs2118386733
NM_000264.5(PTCH1):c.1068-10TG[3] rs748406293
NM_000264.5(PTCH1):c.1068-18C>A
NM_000264.5(PTCH1):c.1068-3C>T rs1841335848
NM_000264.5(PTCH1):c.1068-4G>A
NM_000264.5(PTCH1):c.1078C>T (p.Leu360=) rs2118368238
NM_000264.5(PTCH1):c.1086C>G (p.Thr362=) rs777969745
NM_000264.5(PTCH1):c.1098A>G (p.Leu366=) rs2118367508
NM_000264.5(PTCH1):c.1149A>C (p.Ser383=)
NM_000264.5(PTCH1):c.1152C>T (p.His384=) rs200246772
NM_000264.5(PTCH1):c.1167G>A (p.Glu389=) rs2118365266
NM_000264.5(PTCH1):c.1173A>G (p.Lys391=) rs2118365117
NM_000264.5(PTCH1):c.1186C>G (p.Leu396Val) rs371424684
NM_000264.5(PTCH1):c.1191G>A (p.Glu397=)
NM_000264.5(PTCH1):c.1194C>A (p.Ala398=)
NM_000264.5(PTCH1):c.1209T>C (p.Tyr403=)
NM_000264.5(PTCH1):c.1215+10C>A rs1444052168
NM_000264.5(PTCH1):c.1215+15G>A rs781602634
NM_000264.5(PTCH1):c.1215+15G>T rs781602634
NM_000264.5(PTCH1):c.1215+20G>A
NM_000264.5(PTCH1):c.1215+5A>T
NM_000264.5(PTCH1):c.1215+6C>A
NM_000264.5(PTCH1):c.1215+6C>G rs1371005350
NM_000264.5(PTCH1):c.1215+8C>T rs1588605206
NM_000264.5(PTCH1):c.1215+9A>G
NM_000264.5(PTCH1):c.1216-10G>T rs587780691
NM_000264.5(PTCH1):c.1216-11T>C rs2118340723
NM_000264.5(PTCH1):c.1216-13G>A
NM_000264.5(PTCH1):c.1216-16T>C
NM_000264.5(PTCH1):c.1216-18A>G
NM_000264.5(PTCH1):c.1216-18A>T
NM_000264.5(PTCH1):c.1216-19C>T
NM_000264.5(PTCH1):c.1216-20G>A rs747471269
NM_000264.5(PTCH1):c.1216-20G>T
NM_000264.5(PTCH1):c.1216-8G>A
NM_000264.5(PTCH1):c.1218G>C (p.Val406=)
NM_000264.5(PTCH1):c.1221T>A (p.Val407=) rs2118339817
NM_000264.5(PTCH1):c.1224T>C (p.His408=)
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.1248T>C (p.Thr416=) rs863224345
NM_000264.5(PTCH1):c.1251A>G (p.Gln417=) rs2118337388
NM_000264.5(PTCH1):c.1255G>A (p.Val419Met)
NM_000264.5(PTCH1):c.1257G>A (p.Val419=) rs1060504535
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.1285G>A (p.Asp429Asn) rs377546733
NM_000264.5(PTCH1):c.1287C>T (p.Asp429=) rs2118333811
NM_000264.5(PTCH1):c.1290C>T (p.Ile430=)
NM_000264.5(PTCH1):c.1291C>T (p.Leu431=) rs1416185684
NM_000264.5(PTCH1):c.1299C>A (p.Ser433=) rs1366832439
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.1305T>C (p.Ser435=)
NM_000264.5(PTCH1):c.1308C>A (p.Asp436Glu) rs148471237
NM_000264.5(PTCH1):c.1323C>T (p.Arg441=) rs1060504540
NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu) rs759493890
NM_000264.5(PTCH1):c.1347+10G>C rs370916305
NM_000264.5(PTCH1):c.1347+12T>C rs2118327578
NM_000264.5(PTCH1):c.1347+14C>T
NM_000264.5(PTCH1):c.1347+20T>C
NM_000264.5(PTCH1):c.1347+9C>G rs775905392
NM_000264.5(PTCH1):c.1348-13G>A rs2118313377
NM_000264.5(PTCH1):c.1348-13G>T rs2118313377
NM_000264.5(PTCH1):c.1348-16A>G
NM_000264.5(PTCH1):c.1348-17C>G rs2118313541
NM_000264.5(PTCH1):c.1348-19C>T
NM_000264.5(PTCH1):c.1348-8G>T rs2118313205
NM_000264.5(PTCH1):c.1350C>A (p.Leu450=) rs369109033
NM_000264.5(PTCH1):c.1350C>G (p.Leu450=) rs369109033
NM_000264.5(PTCH1):c.1356T>C (p.Tyr452=) rs2118311917
NM_000264.5(PTCH1):c.1359C>G (p.Ala453=) rs1564050395
NM_000264.5(PTCH1):c.1365A>C (p.Leu455=) rs746805188
NM_000264.5(PTCH1):c.1365A>G (p.Leu455=) rs746805188
NM_000264.5(PTCH1):c.1368C>T (p.Thr456=) rs2118310809
NM_000264.5(PTCH1):c.1372C>T (p.Leu458=)
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
NM_000264.5(PTCH1):c.1377C>A (p.Arg459=)
NM_000264.5(PTCH1):c.1377C>T (p.Arg459=)
NM_000264.5(PTCH1):c.1381G>A (p.Asp461Asn)
NM_000264.5(PTCH1):c.1389C>T (p.Ser463=)
NM_000264.5(PTCH1):c.1395C>G (p.Ser465=)
NM_000264.5(PTCH1):c.1419C>G (p.Gly473=) rs774841100
NM_000264.5(PTCH1):c.1425G>C (p.Leu475=)
NM_000264.5(PTCH1):c.1426C>T (p.Leu476=)
NM_000264.5(PTCH1):c.1428G>T (p.Leu476=)
NM_000264.5(PTCH1):c.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.1449A>G (p.Ala483=)
NM_000264.5(PTCH1):c.1452A>G (p.Gly484=)
NM_000264.5(PTCH1):c.1455G>A (p.Leu485=) rs2118305061
NM_000264.5(PTCH1):c.1459C>T (p.Leu487=) rs1588600570
NM_000264.5(PTCH1):c.1476A>C (p.Gly492=) rs1057515720
NM_000264.5(PTCH1):c.1482C>G (p.Ser494=)
NM_000264.5(PTCH1):c.1485T>C (p.Phe495=)
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=) rs1060504538
NM_000264.5(PTCH1):c.1503+16T>C
NM_000264.5(PTCH1):c.1503+19A>G
NM_000264.5(PTCH1):c.1503+4C>A
NM_000264.5(PTCH1):c.1503+7A>C rs779797845
NM_000264.5(PTCH1):c.1504-13_1504-11del
NM_000264.5(PTCH1):c.1504-14T>C
NM_000264.5(PTCH1):c.1504-15_1504-14del
NM_000264.5(PTCH1):c.1504-17C>G rs1196072511
NM_000264.5(PTCH1):c.1504-4G>A rs1588598729
NM_000264.5(PTCH1):c.1504-4G>C
NM_000264.5(PTCH1):c.1504-5T>C
NM_000264.5(PTCH1):c.1504-8_1504-7inv
NM_000264.5(PTCH1):c.1504-9T>C
NM_000264.5(PTCH1):c.1512A>G (p.Pro504=)
NM_000264.5(PTCH1):c.1518C>T (p.Leu506=) rs1374700325
NM_000264.5(PTCH1):c.1520C>T (p.Ala507Val)
NM_000264.5(PTCH1):c.1524T>C (p.Leu508=) rs778837458
NM_000264.5(PTCH1):c.1527T>C (p.Gly509=) rs2118285107
NM_000264.5(PTCH1):c.1533T>C (p.Gly511=) rs2118284366
NM_000264.5(PTCH1):c.1566C>T (p.Phe522=) rs2118281892
NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr) rs751778283
NM_000264.5(PTCH1):c.1584T>C (p.Asn528=) rs2118280594
NM_000264.5(PTCH1):c.1596T>A (p.Pro532=) rs1588598399
NM_000264.5(PTCH1):c.1602+12A>G
NM_000264.5(PTCH1):c.1602+13C>G
NM_000264.5(PTCH1):c.1602+14A>G
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.1602+16A>C
NM_000264.5(PTCH1):c.1602+16A>G rs1841069539
NM_000264.5(PTCH1):c.1602+19A>T
NM_000264.5(PTCH1):c.1602+19_1602+20del
NM_000264.5(PTCH1):c.1602+20_1602+22del
NM_000264.5(PTCH1):c.1602+5T>C
NM_000264.5(PTCH1):c.1602+7C>G rs920792441
NM_000264.5(PTCH1):c.1602+7C>T rs920792441
NM_000264.5(PTCH1):c.1602+8A>G rs1554698205
NM_000264.5(PTCH1):c.1602+9A>G
NM_000264.5(PTCH1):c.1603-11T>G
NM_000264.5(PTCH1):c.1603-13T>C
NM_000264.5(PTCH1):c.1603-15T>C
NM_000264.5(PTCH1):c.1603-15T>G
NM_000264.5(PTCH1):c.1603-16_1603-15del rs2118263773
NM_000264.5(PTCH1):c.1603-19T>G
NM_000264.5(PTCH1):c.1603-20C>T
NM_000264.5(PTCH1):c.1603-4C>T
NM_000264.5(PTCH1):c.1603-6T>C rs2118262896
NM_000264.5(PTCH1):c.1603-7T>C
NM_000264.5(PTCH1):c.1603-8A>G
NM_000264.5(PTCH1):c.1603-8A>T rs2118263115
NM_000264.5(PTCH1):c.1603-8del rs2118263201
NM_000264.5(PTCH1):c.1611C>T (p.Thr537=) rs780344685
NM_000264.5(PTCH1):c.1620C>T (p.Cys540=) rs1841017295
NM_000264.5(PTCH1):c.1623G>C (p.Leu541=)
NM_000264.5(PTCH1):c.1626G>A (p.Lys542=)
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys) rs137903539
NM_000264.5(PTCH1):c.1629C>G (p.Arg543=) rs557468315
NM_000264.5(PTCH1):c.1632A>G (p.Thr544=)
NM_000264.5(PTCH1):c.1647C>T (p.Ala549=) rs2118256501
NM_000264.5(PTCH1):c.1656C>T (p.Ser552=)
NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile) rs1318405179
NM_000264.5(PTCH1):c.1671A>G (p.Thr557=) rs1564046825
NM_000264.5(PTCH1):c.1677C>T (p.Phe559=) rs2118252807
NM_000264.5(PTCH1):c.1680C>T (p.Phe560=)
NM_000264.5(PTCH1):c.1686C>A (p.Ala562=)
NM_000264.5(PTCH1):c.1689G>A (p.Ala563=) rs371757261
NM_000264.5(PTCH1):c.1689G>C (p.Ala563=) rs371757261
NM_000264.5(PTCH1):c.1689G>T (p.Ala563=)
NM_000264.5(PTCH1):c.168C>T (p.Cys56=) rs2118906879
NM_000264.5(PTCH1):c.1690T>C (p.Leu564=)
NM_000264.5(PTCH1):c.1693A>G (p.Ile565Val) rs778170244
NM_000264.5(PTCH1):c.1698A>C (p.Pro566=) rs2118250352
NM_000264.5(PTCH1):c.1707T>C (p.Ala569=) rs2118249592
NM_000264.5(PTCH1):c.1710G>A (p.Leu570=)
NM_000264.5(PTCH1):c.1710G>C (p.Leu570=) rs374924167
NM_000264.5(PTCH1):c.1713G>A (p.Arg571=) rs762575636
NM_000264.5(PTCH1):c.1716G>C (p.Ala572=) rs55844310
NM_000264.5(PTCH1):c.171C>T (p.Asp57=) rs1485701312
NM_000264.5(PTCH1):c.1722C>A (p.Ser574=)
NM_000264.5(PTCH1):c.1728+12G>C rs2118247350
NM_000264.5(PTCH1):c.1728+14G>A
NM_000264.5(PTCH1):c.1728+15A>T rs771991404
NM_000264.5(PTCH1):c.1728+19A>G rs774363073
NM_000264.5(PTCH1):c.1728+19del rs2118246919
NM_000264.5(PTCH1):c.1728+4A>G
NM_000264.5(PTCH1):c.1728+8T>G rs864622243
NM_000264.5(PTCH1):c.1728+9C>T rs1060504541
NM_000264.5(PTCH1):c.183T>C (p.Ala61=) rs2118906517
NM_000264.5(PTCH1):c.192G>A (p.Gln64=) rs1843885224
NM_000264.5(PTCH1):c.197C>T (p.Ser66Phe)
NM_000264.5(PTCH1):c.198C>T (p.Ser66=) rs1355794957
NM_000264.5(PTCH1):c.201+10A>G
NM_000264.5(PTCH1):c.201+11G>C
NM_000264.5(PTCH1):c.201+12A>T
NM_000264.5(PTCH1):c.201+13C>T
NM_000264.5(PTCH1):c.201+14T>A
NM_000264.5(PTCH1):c.201+14TC[2] rs758866712
NM_000264.5(PTCH1):c.201+15C>G
NM_000264.5(PTCH1):c.201+15C>T
NM_000264.5(PTCH1):c.201+16T>A
NM_000264.5(PTCH1):c.201+16_201+19del
NM_000264.5(PTCH1):c.201+17C>G rs750650083
NM_000264.5(PTCH1):c.201+17C>T rs750650083
NM_000264.5(PTCH1):c.201+18T>C rs2118905834
NM_000264.5(PTCH1):c.201+19C>A rs765308113
NM_000264.5(PTCH1):c.201+20C>T
NM_000264.5(PTCH1):c.201+8del rs2118906058
NM_000264.5(PTCH1):c.201+9C>T rs751905115
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.216C>G (p.Gly72=) rs1383963652
NM_000264.5(PTCH1):c.222A>G (p.Lys74=)
NM_000264.5(PTCH1):c.228G>C (p.Pro76=)
NM_000264.5(PTCH1):c.229C>T (p.Leu77=)
NM_000264.5(PTCH1):c.235C>T (p.Leu79=)
NM_000264.5(PTCH1):c.239G>A (p.Arg80Lys)
NM_000264.5(PTCH1):c.239G>C (p.Arg80Thr)
NM_000264.5(PTCH1):c.243G>A (p.Ala81=) rs1444883189
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu) rs1263611523
NM_000264.5(PTCH1):c.252G>A (p.Gln84=) rs587780698
NM_000264.5(PTCH1):c.253A>C (p.Arg85=) rs1554708772
NM_000264.5(PTCH1):c.2561-10C>A rs763935951
NM_000264.5(PTCH1):c.2561-15A>T
NM_000264.5(PTCH1):c.2561-16C>A rs1588551982
NM_000264.5(PTCH1):c.2561-17T>C
NM_000264.5(PTCH1):c.2561-20C>G
NM_000264.5(PTCH1):c.2561-8A>G rs2136690155
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=) rs751613059
NM_000264.5(PTCH1):c.2581A>G (p.Ser861Gly)
NM_000264.5(PTCH1):c.258C>A (p.Leu86=) rs1060504533
NM_000264.5(PTCH1):c.2592A>G (p.Glu864=) rs1839515955
NM_000264.5(PTCH1):c.2595C>G (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.2611A>G (p.Asn871Asp)
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.2637T>C (p.Asp879=) rs2136688208
NM_000264.5(PTCH1):c.2643C>G (p.Val881=) rs1588551617
NM_000264.5(PTCH1):c.2658C>G (p.Leu886=)
NM_000264.5(PTCH1):c.2659C>T (p.Leu887=) rs2136687780
NM_000264.5(PTCH1):c.2661G>T (p.Leu887=) rs1487503503
NM_000264.5(PTCH1):c.2664G>A (p.Val888=) rs2136687667
NM_000264.5(PTCH1):c.2667A>G (p.Gln889=) rs777777450
NM_000264.5(PTCH1):c.268C>T (p.Leu90=) rs1587693584
NM_000264.5(PTCH1):c.2691C>T (p.Ile897=) rs1055193050
NM_000264.5(PTCH1):c.2703+10C>G rs1390398176
NM_000264.5(PTCH1):c.2703+12G>A rs1295275193
NM_000264.5(PTCH1):c.2703+20C>T
NM_000264.5(PTCH1):c.2704-12C>T
NM_000264.5(PTCH1):c.2704-23CT[3] rs2136673668
NM_000264.5(PTCH1):c.2704-4G>T rs864622248
NM_000264.5(PTCH1):c.2704-5del rs2136673527
NM_000264.5(PTCH1):c.2706G>A (p.Leu902=) rs993814839
NM_000264.5(PTCH1):c.2709T>C (p.Thr903=)
NM_000264.5(PTCH1):c.2721G>C (p.Leu907=) rs2136673149
NM_000264.5(PTCH1):c.2724G>T (p.Val908=) rs1564021832
NM_000264.5(PTCH1):c.2727T>C (p.Asp909=) rs1588545040
NM_000264.5(PTCH1):c.2730A>C (p.Ala910=)
NM_000264.5(PTCH1):c.2730A>G (p.Ala910=) rs1588545017
NM_000264.5(PTCH1):c.2757C>T (p.Phe919=) rs1588544920
NM_000264.5(PTCH1):c.275G>T (p.Cys92Phe)
NM_000264.5(PTCH1):c.2760C>T (p.Tyr920=) rs1588544909
NM_000264.5(PTCH1):c.2763C>A (p.Ile921=)
NM_000264.5(PTCH1):c.2766C>T (p.Tyr922=) rs1554691698
NM_000264.5(PTCH1):c.2769G>C (p.Leu923=) rs2136672215
NM_000264.5(PTCH1):c.2772G>T (p.Thr924=) rs1554691694
NM_000264.5(PTCH1):c.2782A>G (p.Ser928Gly) rs786204224
NM_000264.5(PTCH1):c.2796C>A (p.Val932=) rs747931365
NM_000264.5(PTCH1):c.2796C>T (p.Val932=)
NM_000264.5(PTCH1):c.2801A>T (p.Tyr934Phe) rs1209943415
NM_000264.5(PTCH1):c.2805T>C (p.Ala935=) rs1588544550
NM_000264.5(PTCH1):c.2808C>T (p.Ala936=) rs1393599414
NM_000264.5(PTCH1):c.2811C>G (p.Ser937=)
NM_000264.5(PTCH1):c.2811C>T (p.Ser937=) rs2136671267
NM_000264.5(PTCH1):c.2823C>T (p.Ile941=) rs1839283096
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.2857G>A (p.Ala953Thr)
NM_000264.5(PTCH1):c.2887+14T>C
NM_000264.5(PTCH1):c.2887+16T>C
NM_000264.5(PTCH1):c.2887+18G>C
NM_000264.5(PTCH1):c.2887+7A>G rs2136669701
NM_000264.5(PTCH1):c.2888-10C>T rs2136663073
NM_000264.5(PTCH1):c.2888-12T>G
NM_000264.5(PTCH1):c.2888-13C>T
NM_000264.5(PTCH1):c.2888-15C>G rs1372660225
NM_000264.5(PTCH1):c.2888-15C>T rs1372660225
NM_000264.5(PTCH1):c.2888-16G>T rs776279907
NM_000264.5(PTCH1):c.2888-17dup rs2136663140
NM_000264.5(PTCH1):c.2888-18G>A
NM_000264.5(PTCH1):c.2888-4C>T rs1411872086
NM_000264.5(PTCH1):c.2888-9T>C
NM_000264.5(PTCH1):c.288A>G (p.Lys96=) rs1843659466
NM_000264.5(PTCH1):c.2892G>T (p.Pro964=)
NM_000264.5(PTCH1):c.2904C>G (p.Pro968=) rs1554691433
NM_000264.5(PTCH1):c.2904C>T (p.Pro968=)
NM_000264.5(PTCH1):c.2907C>T (p.Ile969=) rs748318700
NM_000264.5(PTCH1):c.2908G>A (p.Glu970Lys) rs1201956507
NM_000264.5(PTCH1):c.2916C>G (p.Ala972=) rs1313745659
NM_000264.5(PTCH1):c.2922C>T (p.Phe974=) rs747385350
NM_000264.5(PTCH1):c.2925T>C (p.Pro975=) rs2136662510
NM_000264.5(PTCH1):c.2934C>A (p.Leu978=) rs1588540781
NM_000264.5(PTCH1):c.2944C>A (p.Arg982=) rs867973996
NM_000264.5(PTCH1):c.2949C>T (p.Asp983=) rs1204950098
NM_000264.5(PTCH1):c.2952C>T (p.Thr984=)
NM_000264.5(PTCH1):c.2955A>G (p.Ser985=)
NM_000264.5(PTCH1):c.2961T>C (p.Phe987=) rs2136662098
NM_000264.5(PTCH1):c.2964G>A (p.Val988=)
NM_000264.5(PTCH1):c.2970A>T (p.Ala990=) rs112405848
NM_000264.5(PTCH1):c.297C>G (p.Gly99=) rs772407797
NM_000264.5(PTCH1):c.2982A>T (p.Val994=) rs1588540533
NM_000264.5(PTCH1):c.3000C>T (p.Asn1000=) rs2136661651
NM_000264.5(PTCH1):c.3003T>C (p.Tyr1001=) rs1060502298
NM_000264.5(PTCH1):c.3009C>T (p.Ser1003=)
NM_000264.5(PTCH1):c.3010C>T (p.Leu1004=)
NM_000264.5(PTCH1):c.3018G>A (p.Leu1006=) rs863224350
NM_000264.5(PTCH1):c.3018G>C (p.Leu1006=) rs863224350
NM_000264.5(PTCH1):c.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.3063C>T (p.Tyr1021=) rs777191105
NM_000264.5(PTCH1):c.3064A>C (p.Ile1022Leu) rs1003711941
NM_000264.5(PTCH1):c.3069C>A (p.Gly1023=) rs767289081
NM_000264.5(PTCH1):c.3069C>G (p.Gly1023=) rs767289081
NM_000264.5(PTCH1):c.3072C>T (p.Leu1024=) rs1588539992
NM_000264.5(PTCH1):c.3085C>T (p.Leu1029=) rs776739985
NM_000264.5(PTCH1):c.3087G>A (p.Leu1029=) rs2136660541
NM_000264.5(PTCH1):c.3096C>T (p.Ile1032=) rs1839105109
NM_000264.5(PTCH1):c.3105G>A (p.Val1035=) rs2136660293
NM_000264.5(PTCH1):c.3105G>T (p.Val1035=)
NM_000264.5(PTCH1):c.3111C>G (p.Ala1037=) rs1009386754
NM_000264.5(PTCH1):c.3114C>T (p.Cys1038=) rs1303636474
NM_000264.5(PTCH1):c.3123C>A (p.Leu1041=) rs1554691356
NM_000264.5(PTCH1):c.3123C>T (p.Leu1041=) rs1554691356
NM_000264.5(PTCH1):c.3130G>A (p.Ala1044Thr) rs138458710
NM_000264.5(PTCH1):c.315C>G (p.Gly105=) rs1060504542
NM_000264.5(PTCH1):c.3162G>A (p.Gly1054=) rs1588539563
NM_000264.5(PTCH1):c.3168+11dup
NM_000264.5(PTCH1):c.3168+12A>T
NM_000264.5(PTCH1):c.3168+13T>C
NM_000264.5(PTCH1):c.3168+19G>A
NM_000264.5(PTCH1):c.3168+20C>T
NM_000264.5(PTCH1):c.3169-10C>A
NM_000264.5(PTCH1):c.3169-12G>T
NM_000264.5(PTCH1):c.3169-14G>A rs2136650773
NM_000264.5(PTCH1):c.3169-15T>C
NM_000264.5(PTCH1):c.3169-16G>A
NM_000264.5(PTCH1):c.3169-17T>C
NM_000264.5(PTCH1):c.3169-18C>G
NM_000264.5(PTCH1):c.3169-18C>T
NM_000264.5(PTCH1):c.3169-19A>G
NM_000264.5(PTCH1):c.3169-20C>A rs780801234
NM_000264.5(PTCH1):c.3169-4C>G
NM_000264.5(PTCH1):c.3169-6C>T rs1588536035
NM_000264.5(PTCH1):c.3169-7G>A rs1588536043
NM_000264.5(PTCH1):c.3169-7G>C rs1588536043
NM_000264.5(PTCH1):c.3171G>T (p.Val1057=) rs2136650471
NM_000264.5(PTCH1):c.3180G>T (p.Leu1060=) rs757268536
NM_000264.5(PTCH1):c.3181G>A (p.Ala1061Thr) rs767617256
NM_000264.5(PTCH1):c.3195C>G (p.Val1065=) rs370936145
NM_000264.5(PTCH1):c.3199C>T (p.Leu1067=) rs2136649847
NM_000264.5(PTCH1):c.3201G>A (p.Leu1067=)
NM_000264.5(PTCH1):c.3204C>A (p.Phe1068Leu) rs762419846
NM_000264.5(PTCH1):c.3204C>T (p.Phe1068=) rs762419846
NM_000264.5(PTCH1):c.3208A>G (p.Met1070Val) rs768302786
NM_000264.5(PTCH1):c.3216C>G (p.Gly1072=) rs2136649380
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.3243G>A (p.Val1081=) rs763288802
NM_000264.5(PTCH1):c.3249G>T (p.Val1083=)
NM_000264.5(PTCH1):c.3252C>G (p.Val1084=) rs201094264
NM_000264.5(PTCH1):c.3256C>T (p.Leu1086=)
NM_000264.5(PTCH1):c.3261C>A (p.Ile1087=) rs768215021
NM_000264.5(PTCH1):c.3264T>C (p.Ala1088=) rs1361137530
NM_000264.5(PTCH1):c.3270T>C (p.Val1090=)
NM_000264.5(PTCH1):c.3276A>G (p.Ile1092Met) rs1227312736
NM_000264.5(PTCH1):c.327T>C (p.Phe109=) rs2118876372
NM_000264.5(PTCH1):c.3300T>G (p.Val1100=)
NM_000264.5(PTCH1):c.3304T>C (p.Leu1102=)
NM_000264.5(PTCH1):c.3306+11C>A rs1375317234
NM_000264.5(PTCH1):c.3306+11C>T
NM_000264.5(PTCH1):c.3306+12A>G
NM_000264.5(PTCH1):c.3306+15T>C
NM_000264.5(PTCH1):c.3306+16G>A rs780151010
NM_000264.5(PTCH1):c.3306+20C>G
NM_000264.5(PTCH1):c.3306+20C>T
NM_000264.5(PTCH1):c.3306+6G>A rs777678813
NM_000264.5(PTCH1):c.3306+7G>A rs1382563617
NM_000264.5(PTCH1):c.3307-12C>T
NM_000264.5(PTCH1):c.3307-13C>T
NM_000264.5(PTCH1):c.3307-17A>G
NM_000264.5(PTCH1):c.3307-18A>G
NM_000264.5(PTCH1):c.3307-4A>C rs1554690494
NM_000264.5(PTCH1):c.3307-6G>A
NM_000264.5(PTCH1):c.3307-6G>T
NM_000264.5(PTCH1):c.3307-7T>C rs878853855
NM_000264.5(PTCH1):c.3307-8T>C
NM_000264.5(PTCH1):c.330G>A (p.Gly110=)
NM_000264.5(PTCH1):c.3312T>C (p.Phe1104=)
NM_000264.5(PTCH1):c.3318G>A (p.Thr1106=) rs942699337
NM_000264.5(PTCH1):c.331G>A (p.Ala111Thr) rs777897973
NM_000264.5(PTCH1):c.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.3342G>A (p.Arg1114=)
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met) rs201605273
NM_000264.5(PTCH1):c.3354C>G (p.Ala1118=) rs1554690459
NM_000264.5(PTCH1):c.3360G>A (p.Glu1120=) rs1554690458
NM_000264.5(PTCH1):c.3363C>T (p.His1121=)
NM_000264.5(PTCH1):c.3369T>C (p.Phe1123=) rs2136631715
NM_000264.5(PTCH1):c.3375C>A (p.Pro1125=) rs369760318
NM_000264.5(PTCH1):c.3378C>T (p.Val1126=)
NM_000264.5(PTCH1):c.3379C>T (p.Leu1127=) rs1032072492
NM_000264.5(PTCH1):c.3392T>C (p.Val1131Ala)
NM_000264.5(PTCH1):c.3393G>A (p.Val1131=) rs1267662604
NM_000264.5(PTCH1):c.339G>C (p.Ala113=) rs756224406
NM_000264.5(PTCH1):c.3405G>A (p.Leu1135=)
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.3420G>A (p.Leu1140=) rs748023135
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=) rs745948150
NM_000264.5(PTCH1):c.3426A>T (p.Gly1142=)
NM_000264.5(PTCH1):c.3432G>A (p.Glu1144=) rs2136630962
NM_000264.5(PTCH1):c.3444T>C (p.Ile1148=) rs1439411173
NM_000264.5(PTCH1):c.3449+11G>C
NM_000264.5(PTCH1):c.3449+13G>T
NM_000264.5(PTCH1):c.3449+16C>T rs1838648315
NM_000264.5(PTCH1):c.3449+17A>C
NM_000264.5(PTCH1):c.3449+8G>A rs2136630748
NM_000264.5(PTCH1):c.3449+9G>A rs1554690376
NM_000264.5(PTCH1):c.3450-13C>G rs2136608603
NM_000264.5(PTCH1):c.3450-14T>A
NM_000264.5(PTCH1):c.3450-16C>T
NM_000264.5(PTCH1):c.3450-17T>G
NM_000264.5(PTCH1):c.3450-20G>C
NM_000264.5(PTCH1):c.3450-5C>T rs2136608556
NM_000264.5(PTCH1):c.3450-8T>C rs1045599342
NM_000264.5(PTCH1):c.3456C>T (p.Phe1152=) rs2136608496
NM_000264.5(PTCH1):c.3471G>A (p.Ala1157=) rs950019214
NM_000264.5(PTCH1):c.3483C>A (p.Ile1161=) rs761421461
NM_000264.5(PTCH1):c.3483C>T (p.Ile1161=)
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.3501G>T (p.Gly1167=)
NM_000264.5(PTCH1):c.350A>G (p.Lys117Arg) rs1234085004
NM_000264.5(PTCH1):c.3513T>C (p.Leu1171=) rs2136607744
NM_000264.5(PTCH1):c.3540A>C (p.Pro1180=) rs930364103
NM_000264.5(PTCH1):c.3549+10G>C rs587780703
NM_000264.5(PTCH1):c.3549+11A>G
NM_000264.5(PTCH1):c.3549+15G>A rs1444040515
NM_000264.5(PTCH1):c.3549+17G>T
NM_000264.5(PTCH1):c.3549+18G>A
NM_000264.5(PTCH1):c.3550-11C>G
NM_000264.5(PTCH1):c.3550-11C>T
NM_000264.5(PTCH1):c.3550-15A>G rs1337486945
NM_000264.5(PTCH1):c.3550-19A>G rs2136603435
NM_000264.5(PTCH1):c.3550-20C>A rs2136603455
NM_000264.5(PTCH1):c.3550-4dup
NM_000264.5(PTCH1):c.3550-9C>G rs1410226185
NM_000264.5(PTCH1):c.3550-9C>T rs1410226185
NM_000264.5(PTCH1):c.3552G>A (p.Val1184=) rs2136603020
NM_000264.5(PTCH1):c.3552G>T (p.Val1184=) rs2136603020
NM_000264.5(PTCH1):c.3555T>C (p.Ser1185=) rs1398908173
NM_000264.5(PTCH1):c.3555T>G (p.Ser1185=) rs1398908173
NM_000264.5(PTCH1):c.357G>T (p.Ala119=)
NM_000264.5(PTCH1):c.3582C>G (p.Pro1194=)
NM_000264.5(PTCH1):c.3582C>T (p.Pro1194=)
NM_000264.5(PTCH1):c.3597G>A (p.Glu1199=) rs2136601860
NM_000264.5(PTCH1):c.3600A>C (p.Pro1200=) rs1588517717
NM_000264.5(PTCH1):c.3603C>G (p.Pro1201=)
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>A (p.Val1204=) rs2136601481
NM_000264.5(PTCH1):c.3615C>T (p.Val1205=)
NM_000264.5(PTCH1):c.3618C>T (p.Arg1206=)
NM_000264.5(PTCH1):c.361C>G (p.Leu121Val) rs776424978
NM_000264.5(PTCH1):c.3624C>A (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.3651G>A (p.Gly1217=)
NM_000264.5(PTCH1):c.3651G>C (p.Gly1217=) rs1432605045
NM_000264.5(PTCH1):c.3653C>G (p.Ser1218Cys) rs1167693193
NM_000264.5(PTCH1):c.3654T>C (p.Ser1218=) rs2136600344
NM_000264.5(PTCH1):c.3659C>G (p.Ser1220Cys) rs1375226181
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.366G>A (p.Glu122=) rs1479871006
NM_000264.5(PTCH1):c.366G>C (p.Glu122Asp) rs1479871006
NM_000264.5(PTCH1):c.3672G>A (p.Glu1224=)
NM_000264.5(PTCH1):c.3675T>C (p.Tyr1225=) rs1588517196
NM_000264.5(PTCH1):c.3678T>C (p.Ser1226=) rs1588517173
NM_000264.5(PTCH1):c.3681C>A (p.Ser1227=)
NM_000264.5(PTCH1):c.3684G>A (p.Gln1228=) rs2136599643
NM_000264.5(PTCH1):c.3690A>G (p.Thr1230=)
NM_000264.5(PTCH1):c.3690A>T (p.Thr1230=)
NM_000264.5(PTCH1):c.3692_3693inv (p.Val1231Ala)
NM_000264.5(PTCH1):c.3693G>C (p.Val1231=)
NM_000264.5(PTCH1):c.3699C>T (p.Gly1233=)
NM_000264.5(PTCH1):c.369C>G (p.Thr123=)
NM_000264.5(PTCH1):c.3702C>T (p.Leu1234=)
NM_000264.5(PTCH1):c.3711G>A (p.Glu1237=)
NM_000264.5(PTCH1):c.3716G>C (p.Arg1239Pro) rs758728491
NM_000264.5(PTCH1):c.3717G>A (p.Arg1239=) rs1299281832
NM_000264.5(PTCH1):c.3720C>T (p.His1240=)
NM_000264.5(PTCH1):c.3726G>A (p.Glu1242=)
NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys) rs763779667
NM_000264.5(PTCH1):c.3732G>A (p.Gln1244=) rs2136598143
NM_000264.5(PTCH1):c.3741G>C (p.Ala1247=)
NM_000264.5(PTCH1):c.3744A>G (p.Gly1248=)
NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg) rs769446796
NM_000264.5(PTCH1):c.3747C>T (p.Gly1249=) rs1588516878
NM_000264.5(PTCH1):c.3758A>C (p.Gln1253Pro)
NM_000264.5(PTCH1):c.375G>A (p.Val125=)
NM_000264.5(PTCH1):c.3764T>C (p.Ile1255Thr)
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=) rs758229027
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met) rs150850039
NM_000264.5(PTCH1):c.378G>A (p.Glu126=)
NM_000264.5(PTCH1):c.3804+10T>A rs763314823
NM_000264.5(PTCH1):c.3804+11C>T rs2136596246
NM_000264.5(PTCH1):c.3804+11_3804+12del
NM_000264.5(PTCH1):c.3804+14C>T rs1027523327
NM_000264.5(PTCH1):c.3804+19C>T
NM_000264.5(PTCH1):c.3804+20C>A
NM_000264.5(PTCH1):c.3804+20C>T
NM_000264.5(PTCH1):c.3805-12C>A
NM_000264.5(PTCH1):c.3805-14C>T rs771678354
NM_000264.5(PTCH1):c.3805-15C>T
NM_000264.5(PTCH1):c.3805-17A>C
NM_000264.5(PTCH1):c.3805-19C>A
NM_000264.5(PTCH1):c.3805-32_3805-14del rs1838061359
NM_000264.5(PTCH1):c.3805-4G>A rs1060504537
NM_000264.5(PTCH1):c.3805-7T>G
NM_000264.5(PTCH1):c.3805-8C>T rs1056411006
NM_000264.5(PTCH1):c.3805-9C>A rs2236404
NM_000264.5(PTCH1):c.3805-9C>G rs2236404
NM_000264.5(PTCH1):c.3807G>C (p.Val1269=) rs1588512522
NM_000264.5(PTCH1):c.3810C>A (p.Val1270=)
NM_000264.5(PTCH1):c.3814C>T (p.Pro1272Ser) rs1298467711
NM_000264.5(PTCH1):c.3816C>A (p.Pro1272=) rs369295226
NM_000264.5(PTCH1):c.3818A>C (p.Glu1273Ala)
NM_000264.5(PTCH1):c.381G>A (p.Glu127=) rs1232294231
NM_000264.5(PTCH1):c.381G>C (p.Glu127Asp)
NM_000264.5(PTCH1):c.3822C>T (p.Ser1274=)
NM_000264.5(PTCH1):c.3823A>C (p.Arg1275=) rs1588512429
NM_000264.5(PTCH1):c.3839C>G (p.Ser1280Trp)
NM_000264.5(PTCH1):c.3840G>T (p.Ser1280=) rs750770371
NM_000264.5(PTCH1):c.3855G>A (p.Gln1285=) rs1319416238
NM_000264.5(PTCH1):c.3857C>A (p.Pro1286His) rs1278213544
NM_000264.5(PTCH1):c.3858C>G (p.Pro1286=) rs1222530728
NM_000264.5(PTCH1):c.3858C>T (p.Pro1286=) rs1222530728
NM_000264.5(PTCH1):c.3867C>T (p.Asp1289=) rs587780704
NM_000264.5(PTCH1):c.3873G>A (p.Gly1291=) rs2136583413
NM_000264.5(PTCH1):c.3882T>C (p.Pro1294=) rs2136583157
NM_000264.5(PTCH1):c.3894A>G (p.Gln1298=)
NM_000264.5(PTCH1):c.3900G>A (p.Gln1300=)
NM_000264.5(PTCH1):c.3903G>A (p.Gln1301=) rs2136582488
NM_000264.5(PTCH1):c.3906C>T (p.Pro1302=) rs2136582395
NM_000264.5(PTCH1):c.3909C>G (p.Arg1303=) rs1458552244
NM_000264.5(PTCH1):c.3912G>A (p.Arg1304=) rs757702954
NM_000264.5(PTCH1):c.3912G>T (p.Arg1304Ser) rs757702954
NM_000264.5(PTCH1):c.3913G>A (p.Asp1305Asn) rs368528885
NM_000264.5(PTCH1):c.3915C>T (p.Asp1305=)
NM_000264.5(PTCH1):c.3918C>T (p.Pro1306=)
NM_000264.5(PTCH1):c.3920C>T (p.Pro1307Leu) rs181585555
NM_000264.5(PTCH1):c.3921C>A (p.Pro1307=) rs766089412
NM_000264.5(PTCH1):c.3921C>G (p.Pro1307=) rs766089412
NM_000264.5(PTCH1):c.3921C>T (p.Pro1307=) rs766089412
NM_000264.5(PTCH1):c.3930C>G (p.Gly1310=) rs769743412
NM_000264.5(PTCH1):c.3933G>A (p.Leu1311=) rs761688859
NM_000264.5(PTCH1):c.3939A>G (p.Pro1313=)
NM_000264.5(PTCH1):c.3939A>T (p.Pro1313=)
NM_000264.5(PTCH1):c.394+10C>G rs755119764
NM_000264.5(PTCH1):c.394+13G>C
NM_000264.5(PTCH1):c.394+13_394+30del
NM_000264.5(PTCH1):c.394+14_394+33del rs2118871805
NM_000264.5(PTCH1):c.394+15C>A
NM_000264.5(PTCH1):c.394+15_394+26del rs762616418
NM_000264.5(PTCH1):c.394+15del
NM_000264.5(PTCH1):c.394+16G>C
NM_000264.5(PTCH1):c.394+17C>T
NM_000264.5(PTCH1):c.394+18G>C rs749589611
NM_000264.5(PTCH1):c.394+20C>T
NM_000264.5(PTCH1):c.394+24C>T rs561263076
NM_000264.5(PTCH1):c.394+8C>G rs1373035322
NM_000264.5(PTCH1):c.394+8C>T
NM_000264.5(PTCH1):c.394+9G>C rs1587692775
NM_000264.5(PTCH1):c.3942C>T (p.Pro1314=) rs1406247800
NM_000264.5(PTCH1):c.395-11A>G rs748299945
NM_000264.5(PTCH1):c.395-11A>T
NM_000264.5(PTCH1):c.395-13A>G
NM_000264.5(PTCH1):c.395-14T>A rs2118552430
NM_000264.5(PTCH1):c.395-15G>A
NM_000264.5(PTCH1):c.395-18C>G
NM_000264.5(PTCH1):c.395-18C>T
NM_000264.5(PTCH1):c.395-5G>C
NM_000264.5(PTCH1):c.395-7T>G rs2118551966
NM_000264.5(PTCH1):c.395-8T>C rs755013836
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=) rs1554688549
NM_000264.5(PTCH1):c.3975T>C (p.Ile1325=)
NM_000264.5(PTCH1):c.3977C>T (p.Ser1326Phe) rs764964224
NM_000264.5(PTCH1):c.3981T>C (p.Thr1327=) rs1588511470
NM_000264.5(PTCH1):c.3981T>G (p.Thr1327=) rs1588511470
NM_000264.5(PTCH1):c.3992C>G (p.Ser1331Cys) rs150373546
NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe) rs150373546
NM_000264.5(PTCH1):c.399A>G (p.Gly133=) rs2118551268
NM_000264.5(PTCH1):c.4002C>T (p.Ser1334=)
NM_000264.5(PTCH1):c.4005T>C (p.Asn1335=) rs1588511343
NM_000264.5(PTCH1):c.4008G>A (p.Arg1336=) rs1838019496
NM_000264.5(PTCH1):c.4011C>T (p.Ala1337=)
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp) rs1218728112
NM_000264.5(PTCH1):c.4020C>G (p.Gly1340=) rs773564643
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=) rs773564643
NM_000264.5(PTCH1):c.4021C>T (p.Pro1341Ser)
NM_000264.5(PTCH1):c.4022C>T (p.Pro1341Leu) rs748609458
NM_000264.5(PTCH1):c.4026C>A (p.Arg1342=)
NM_000264.5(PTCH1):c.4029G>A (p.Gly1343=) rs750057721
NM_000264.5(PTCH1):c.402A>C (p.Gly134=)
NM_000264.5(PTCH1):c.4032C>T (p.Ala1344=) rs1838013057
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.4051A>G (p.Asn1351Asp) rs786204103
NM_000264.5(PTCH1):c.4069A>G (p.Met1357Val) rs757909121
NM_000264.5(PTCH1):c.4077C>T (p.Ser1359=)
NM_000264.5(PTCH1):c.4080C>A (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.408A>G (p.Val136=)
NM_000264.5(PTCH1):c.4092C>T (p.Tyr1364=) rs2136576724
NM_000264.5(PTCH1):c.4095C>T (p.Cys1365=) rs864622569
NM_000264.5(PTCH1):c.4101C>T (p.Pro1367=)
NM_000264.5(PTCH1):c.4110T>C (p.Thr1370=)
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.4125C>G (p.Ala1375=)
NM_000264.5(PTCH1):c.4125C>T (p.Ala1375=) rs775974258
NM_000264.5(PTCH1):c.4131G>C (p.Val1377=) rs2136575661
NM_000264.5(PTCH1):c.4140C>A (p.Ala1380=)
NM_000264.5(PTCH1):c.4143G>A (p.Val1381=) rs2136575217
NM_000264.5(PTCH1):c.4149G>T (p.Pro1383=)
NM_000264.5(PTCH1):c.4155T>G (p.Pro1385=) rs2136574783
NM_000264.5(PTCH1):c.4158C>T (p.Val1386=)
NM_000264.5(PTCH1):c.4167T>C (p.Pro1389=)
NM_000264.5(PTCH1):c.4171C>A (p.Arg1391=) rs45535032
NM_000264.5(PTCH1):c.4179C>A (p.Pro1393=) rs1057521043
NM_000264.5(PTCH1):c.4179C>T (p.Pro1393=) rs1057521043
NM_000264.5(PTCH1):c.417A>G (p.Glu139=) rs755854293
NM_000264.5(PTCH1):c.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.4194C>T (p.Cys1398=)
NM_000264.5(PTCH1):c.4197A>G (p.Pro1399=)
NM_000264.5(PTCH1):c.4200C>A (p.Gly1400=)
NM_000264.5(PTCH1):c.4200C>T (p.Gly1400=) rs1554688167
NM_000264.5(PTCH1):c.4203C>T (p.Tyr1401=) rs1588510064
NM_000264.5(PTCH1):c.4215C>T (p.Asp1405=) rs2136573135
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>G (p.Pro1412=) rs369083374
NM_000264.5(PTCH1):c.4236C>T (p.Pro1412=) rs369083374
NM_000264.5(PTCH1):c.4242G>A (p.Val1414=) rs1390378010
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.4257G>T (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.426T>C (p.Tyr142=)
NM_000264.5(PTCH1):c.4272T>C (p.Asp1424=)
NM_000264.5(PTCH1):c.4275G>T (p.Ser1425=)
NM_000264.5(PTCH1):c.4278G>A (p.Lys1426=)
NM_000264.5(PTCH1):c.4296G>A (p.Leu1432=) rs1554688070
NM_000264.5(PTCH1):c.4296G>T (p.Leu1432=) rs1554688070
NM_000264.5(PTCH1):c.429T>C (p.Thr143=)
NM_000264.5(PTCH1):c.429T>G (p.Thr143=)
NM_000264.5(PTCH1):c.4305G>A (p.Val1435=)
NM_000264.5(PTCH1):c.431G>A (p.Arg144His) rs1316474105
NM_000264.5(PTCH1):c.4324C>A (p.Arg1442=)
NM_000264.5(PTCH1):c.4332C>T (p.Ser1444=) rs1325469372
NM_000264.5(PTCH1):c.4343G>A (p.Ter1448=) rs2136570427
NM_000264.5(PTCH1):c.435G>A (p.Gln145=)
NM_000264.5(PTCH1):c.453T>C (p.Ala151=)
NM_000264.5(PTCH1):c.453T>G (p.Ala151=) rs879188085
NM_000264.5(PTCH1):c.468A>C (p.Gln156His) rs200729445
NM_000264.5(PTCH1):c.468A>G (p.Gln156=) rs200729445
NM_000264.5(PTCH1):c.471C>T (p.Leu157=)
NM_000264.5(PTCH1):c.480G>A (p.Gln160=) rs1841921572
NM_000264.5(PTCH1):c.489A>G (p.Lys163=) rs2118544161
NM_000264.5(PTCH1):c.501T>A (p.Ala167=) rs1841918369
NM_000264.5(PTCH1):c.501T>C (p.Ala167=) rs1841918369
NM_000264.5(PTCH1):c.507C>G (p.Val169=) rs1490972795
NM_000264.5(PTCH1):c.507C>T (p.Val169=) rs1490972795
NM_000264.5(PTCH1):c.508C>T (p.Leu170=)
NM_000264.5(PTCH1):c.510G>A (p.Leu170=)
NM_000264.5(PTCH1):c.522G>T (p.Ala174=) rs891032185
NM_000264.5(PTCH1):c.525C>T (p.Leu175=) rs1554702079
NM_000264.5(PTCH1):c.551A>G (p.Gln184Arg)
NM_000264.5(PTCH1):c.555C>T (p.Ala185=) rs1197767332
NM_000264.5(PTCH1):c.564C>A (p.Val188=)
NM_000264.5(PTCH1):c.564C>G (p.Val188=) rs963079015
NM_000264.5(PTCH1):c.564C>T (p.Val188=)
NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
NM_000264.5(PTCH1):c.570A>G (p.Val190=) rs1292107414
NM_000264.5(PTCH1):c.573C>T (p.Tyr191=) rs1249050389
NM_000264.5(PTCH1):c.582C>T (p.Asn194=) rs2118537361
NM_000264.5(PTCH1):c.584+10G>C rs765713791
NM_000264.5(PTCH1):c.584+16T>A
NM_000264.5(PTCH1):c.584+16T>G
NM_000264.5(PTCH1):c.584+18C>G
NM_000264.5(PTCH1):c.584+20C>T
NM_000264.5(PTCH1):c.584+8C>T
NM_000264.5(PTCH1):c.585-10A>G
NM_000264.5(PTCH1):c.585-11_585-7del rs1588614760
NM_000264.5(PTCH1):c.585-17_585-13del rs776103507
NM_000264.5(PTCH1):c.585-20T>G
NM_000264.5(PTCH1):c.585-5A>G rs1588614746
NM_000264.5(PTCH1):c.595T>C (p.Leu199=) rs2118474956
NM_000264.5(PTCH1):c.600A>G (p.Glu200=)
NM_000264.5(PTCH1):c.606G>A (p.Leu202=) rs769719333
NM_000264.5(PTCH1):c.612C>T (p.Tyr204=)
NM_000264.5(PTCH1):c.618A>C (p.Ser206=)
NM_000264.5(PTCH1):c.618A>G (p.Ser206=) rs1841594710
NM_000264.5(PTCH1):c.633A>G (p.Thr211=)
NM_000264.5(PTCH1):c.645C>T (p.Tyr215=) rs878853858
NM_000264.5(PTCH1):c.654+10C>G
NM_000264.5(PTCH1):c.654+12T>G rs1841588620
NM_000264.5(PTCH1):c.654+13C>A
NM_000264.5(PTCH1):c.654+16G>C
NM_000264.5(PTCH1):c.654+17T>C
NM_000264.5(PTCH1):c.654+19G>A
NM_000264.5(PTCH1):c.654+19G>T
NM_000264.5(PTCH1):c.654+7T>A rs1588614471
NM_000264.5(PTCH1):c.654+8T>G rs2118471579
NM_000264.5(PTCH1):c.654+9T>C rs1554700690
NM_000264.5(PTCH1):c.655-11A>G
NM_000264.5(PTCH1):c.655-17_655-15del
NM_000264.5(PTCH1):c.655-20C>A
NM_000264.5(PTCH1):c.657A>C (p.Ile219=)
NM_000264.5(PTCH1):c.657A>T (p.Ile219=) rs1425544626
NM_000264.5(PTCH1):c.663A>G (p.Glu221=) rs1479973586
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile) rs1266754583
NM_000264.5(PTCH1):c.672C>T (p.Tyr224=) rs1588614178
NM_000264.5(PTCH1):c.690A>G (p.Thr230=) rs2118464335
NM_000264.5(PTCH1):c.692C>T (p.Pro231Leu)
NM_000264.5(PTCH1):c.694T>C (p.Leu232=)
NM_000264.5(PTCH1):c.702C>T (p.Cys234=)
NM_000264.5(PTCH1):c.711A>G (p.Glu237=) rs1588614118
NM_000264.5(PTCH1):c.714G>C (p.Gly238=)
NM_000264.5(PTCH1):c.721T>C (p.Leu241=) rs1554700612
NM_000264.5(PTCH1):c.723A>G (p.Leu241=) rs2118461122
NM_000264.5(PTCH1):c.726G>A (p.Gln242=)
NM_000264.5(PTCH1):c.744C>G (p.Leu248=) rs2118458881
NM_000264.5(PTCH1):c.746+10T>A rs1554700563
NM_000264.5(PTCH1):c.746+11G>A
NM_000264.5(PTCH1):c.746+11G>C rs774992791
NM_000264.5(PTCH1):c.746+12A>T
NM_000264.5(PTCH1):c.746+13T>C rs1014606258
NM_000264.5(PTCH1):c.746+14C>G
NM_000264.5(PTCH1):c.746+6TG[4] rs770615351
NM_000264.5(PTCH1):c.746+9G>A
NM_000264.5(PTCH1):c.747-12T>C
NM_000264.5(PTCH1):c.747-14A>G rs373907227
NM_000264.5(PTCH1):c.747-16C>T
NM_000264.5(PTCH1):c.747-17C>G rs1841460679
NM_000264.5(PTCH1):c.747-17C>T
NM_000264.5(PTCH1):c.747-19C>T rs555297981
NM_000264.5(PTCH1):c.747-6T>C rs2118429284
NM_000264.5(PTCH1):c.747-9C>G
NM_000264.5(PTCH1):c.747-9del rs1841459388
NM_000264.5(PTCH1):c.756T>A (p.Pro252=) rs2118428399
NM_000264.5(PTCH1):c.759T>C (p.Pro253=) rs1588610513
NM_000264.5(PTCH1):c.764G>T (p.Arg255Leu) rs779870576
NM_000264.5(PTCH1):c.765G>A (p.Arg255=)
NM_000264.5(PTCH1):c.765G>T (p.Arg255=) rs2118427794
NM_000264.5(PTCH1):c.771A>G (p.Thr257=) rs2118427410
NM_000264.5(PTCH1):c.774C>T (p.Asn258=)
NM_000264.5(PTCH1):c.779A>C (p.Asp260Ala) rs368102115
NM_000264.5(PTCH1):c.780C>T (p.Asp260=) rs2118426797
NM_000264.5(PTCH1):c.783T>C (p.Pro261=) rs1554699996
NM_000264.5(PTCH1):c.783T>G (p.Pro261=) rs1554699996
NM_000264.5(PTCH1):c.792C>T (p.Phe264=) rs2118425622
NM_000264.5(PTCH1):c.795G>A (p.Leu265=)
NM_000264.5(PTCH1):c.807G>A (p.Lys269=) rs2118423662
NM_000264.5(PTCH1):c.814A>G (p.Asn272Asp)
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.852G>A (p.Lys284=) rs2118419496
NM_000264.5(PTCH1):c.855T>C (p.Ala285=)
NM_000264.5(PTCH1):c.855T>G (p.Ala285=) rs1060504539
NM_000264.5(PTCH1):c.861T>C (p.Val287=) rs2118418760
NM_000264.5(PTCH1):c.864T>C (p.Gly288=)
NM_000264.5(PTCH1):c.866A>G (p.His289Arg)
NM_000264.5(PTCH1):c.867T>C (p.His289=) rs1319404006
NM_000264.5(PTCH1):c.875T>C (p.Met292Thr) rs748727674
NM_000264.5(PTCH1):c.876G>A (p.Met292Ile) rs776187586
NM_000264.5(PTCH1):c.881G>C (p.Arg294Pro) rs878853859
NM_000264.5(PTCH1):c.882C>A (p.Arg294=) rs145893445
NM_000264.5(PTCH1):c.885C>G (p.Pro295=)
NM_000264.5(PTCH1):c.891C>G (p.Leu297=)
NM_000264.5(PTCH1):c.897G>C (p.Pro299=) rs56141639
NM_000264.5(PTCH1):c.900C>G (p.Ala300=) rs201962105
NM_000264.5(PTCH1):c.903T>C (p.Asp301=)
NM_000264.5(PTCH1):c.906A>T (p.Pro302=)
NM_000264.5(PTCH1):c.921A>G (p.Thr307=) rs763339917
NM_000264.5(PTCH1):c.927C>A (p.Pro309=)
NM_000264.5(PTCH1):c.939A>G (p.Ser313=) rs1841439010
NM_000264.5(PTCH1):c.945+12C>G rs2118409985
NM_000264.5(PTCH1):c.945+19C>A rs538776608
NM_000264.5(PTCH1):c.945+8C>G
NM_000264.5(PTCH1):c.945+8C>T
NM_000264.5(PTCH1):c.945+9C>A
NM_000264.5(PTCH1):c.945+9C>G rs878853860
NM_000264.5(PTCH1):c.946-11T>A
NM_000264.5(PTCH1):c.946-13C>G
NM_000264.5(PTCH1):c.946-14T>C
NM_000264.5(PTCH1):c.946-14T>G
NM_000264.5(PTCH1):c.946-18G>A rs1447732065
NM_000264.5(PTCH1):c.946-5T>A rs1588608882
NM_000264.5(PTCH1):c.946-6T>C
NM_000264.5(PTCH1):c.946-7A>T
NM_000264.5(PTCH1):c.946-8T>C rs202011325
NM_000264.5(PTCH1):c.954T>C (p.Asp318=)
NM_000264.5(PTCH1):c.963T>C (p.Leu321=) rs1588608777
NM_000264.5(PTCH1):c.978A>C (p.Gly326=)
NM_000264.5(PTCH1):c.978A>T (p.Gly326=) rs2118394366
NM_000264.5(PTCH1):c.981T>C (p.Cys327=) rs2118394148
NM_000264.5(PTCH1):c.983A>T (p.His328Leu) rs1484111496
NM_000264.5(PTCH1):c.987C>T (p.Gly329=)
NM_000264.5(PTCH1):c.998A>G (p.Lys333Arg)

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