ClinVar Miner

List of variants in gene PTCH1 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 946
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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.3633C>G (p.Pro1211=) rs56007343 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00062
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=) rs145196322 0.00060
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00060
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00058
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000264.5(PTCH1):c.1080G>A (p.Leu360=) rs2066839 0.00045
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=) rs139123130 0.00044
NM_000264.5(PTCH1):c.1183A>G (p.Ile395Val) rs139498131 0.00043
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000264.5(PTCH1):c.2704-6T>C rs182321370 0.00025
NM_000264.5(PTCH1):c.4218C>T (p.His1406=) rs372558350 0.00023
NM_000264.5(PTCH1):c.1488C>T (p.Asn496=) rs577742581 0.00021
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=) rs149398794 0.00021
NM_000264.5(PTCH1):c.3195C>T (p.Val1065=) rs370936145 0.00021
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967 0.00021
NM_000264.5(PTCH1):c.1661G>A (p.Ser554Asn) rs148367880 0.00019
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828 0.00019
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.3617G>A (p.Arg1206His) rs560967532 0.00015
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser) rs574856671 0.00015
NM_000264.5(PTCH1):c.567T>C (p.His189=) rs150759973 0.00015
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met) rs149667902 0.00014
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883 0.00014
NM_000264.5(PTCH1):c.2595C>T (p.Thr865=) rs144512837 0.00013
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser) rs570091335 0.00012
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=) rs200435277 0.00012
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met) rs150850039 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.1247C>G (p.Thr416Ser) rs201174718 0.00010
NM_000264.5(PTCH1):c.2859C>T (p.Ala953=) rs142131559 0.00010
NM_000264.5(PTCH1):c.3027C>T (p.Tyr1009=) rs747234651 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.1002T>C (p.Tyr334=) rs145867500 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.174C>T (p.Ala58=) rs368563182 0.00008
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000264.5(PTCH1):c.3531C>T (p.Phe1177=) rs587780702 0.00008
NM_000264.5(PTCH1):c.3792C>T (p.Phe1264=) rs144312968 0.00008
NM_000264.5(PTCH1):c.420A>G (p.Leu140=) rs372559495 0.00008
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=) rs201357130 0.00008
NM_000264.5(PTCH1):c.1308C>T (p.Asp436=) rs148471237 0.00007
NM_000264.5(PTCH1):c.1342C>A (p.Leu448Ile) rs537871675 0.00007
NM_000264.5(PTCH1):c.3169-5T>C rs367654039 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.3955C>T (p.Arg1319Cys) rs375998275 0.00007
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=) rs139071993 0.00007
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00007
NM_000264.5(PTCH1):c.882C>T (p.Arg294=) rs145893445 0.00007
NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu) rs370755364 0.00007
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.4134T>C (p.Thr1378=) rs775499386 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.2834G>A (p.Arg945Gln) rs201118857 0.00005
NM_000264.5(PTCH1):c.3178C>T (p.Leu1060=) rs765072884 0.00005
NM_000264.5(PTCH1):c.3616C>T (p.Arg1206Cys) rs772537644 0.00005
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His) rs771238114 0.00005
NM_000264.5(PTCH1):c.4212T>C (p.Thr1404=) rs139086753 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.2850C>T (p.His950=) rs200776583 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.3192G>A (p.Thr1064=) rs751797047 0.00004
NM_000264.5(PTCH1):c.3222C>T (p.Ile1074=) rs749448606 0.00004
NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=) rs369760318 0.00004
NM_000264.5(PTCH1):c.3561C>G (p.Ala1187=) rs1161608601 0.00004
NM_000264.5(PTCH1):c.3642G>A (p.Thr1214=) rs143974523 0.00004
NM_000264.5(PTCH1):c.3669G>A (p.Ser1223=) rs780515178 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.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000264.5(PTCH1):c.4275G>A (p.Ser1425=) rs756270271 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.1137C>T (p.Tyr379=) rs587780690 0.00003
NM_000264.5(PTCH1):c.1164C>T (p.Asn388=) rs201602238 0.00003
NM_000264.5(PTCH1):c.1332C>T (p.Ser444=) rs373930674 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.2667A>G (p.Gln889=) rs777777450 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.2866A>G (p.Met956Val) rs587780699 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.3067G>A (p.Gly1023Ser) rs752317944 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.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.4050G>A (p.Arg1350=) rs748440992 0.00003
NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=) rs375588552 0.00003
NM_000264.5(PTCH1):c.4087G>A (p.Gly1363Ser) rs767625820 0.00003
NM_000264.5(PTCH1):c.4137C>T (p.Val1379=) rs149091602 0.00003
NM_000264.5(PTCH1):c.4140C>T (p.Ala1380=) rs752595145 0.00003
NM_000264.5(PTCH1):c.4170G>A (p.Gly1390=) rs201118928 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.4210A>G (p.Thr1404Ala) rs201873008 0.00003
NM_000264.5(PTCH1):c.4251C>T (p.His1417=) rs371960721 0.00003
NM_000264.5(PTCH1):c.4281G>A (p.Val1427=) rs767698482 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.1041C>G (p.Val347=) rs1588608374 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.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.2793C>T (p.Pro931=) rs1162747889 0.00002
NM_000264.5(PTCH1):c.2865C>T (p.Tyr955=) rs764854579 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.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.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.3649G>A (p.Gly1217Arg) rs768986314 0.00002
NM_000264.5(PTCH1):c.3724G>A (p.Glu1242Lys) rs779417284 0.00002
NM_000264.5(PTCH1):c.3752C>A (p.Ala1251Asp) rs747739936 0.00002
NM_000264.5(PTCH1):c.3793G>A (p.Ala1265Thr) rs759791227 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.3890G>A (p.Arg1297Gln) rs386833412 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.3996C>T (p.Gly1332=) rs1343640252 0.00002
NM_000264.5(PTCH1):c.4002C>T (p.Ser1334=) rs933654875 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.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.655-5G>T rs776683312 0.00002
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn) rs767601899 0.00002
NM_000264.5(PTCH1):c.1020G>A (p.Glu340=) rs748171767 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.1140G>A (p.Glu380=) rs764896299 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.1293G>A (p.Leu431=) rs200313703 0.00001
NM_000264.5(PTCH1):c.1323C>T (p.Arg441=) rs1060504540 0.00001
NM_000264.5(PTCH1):c.1335C>A (p.Gly445=) rs537660949 0.00001
NM_000264.5(PTCH1):c.1347+5C>T rs567257548 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.1363C>T (p.Leu455=) rs900926173 0.00001
NM_000264.5(PTCH1):c.1391A>G (p.Lys464Arg) rs756171491 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.1524T>C (p.Leu508=) rs778837458 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.1626G>A (p.Lys542=) rs143565988 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.204G>T (p.Gly68=) rs547930654 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.237G>A (p.Leu79=) rs547602299 0.00001
NM_000264.5(PTCH1):c.2592A>G (p.Glu864=) rs1839515955 0.00001
NM_000264.5(PTCH1):c.2610A>C (p.Pro870=) rs762087413 0.00001
NM_000264.5(PTCH1):c.2615A>G (p.Asn872Ser) rs769029578 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.2691C>T (p.Ile897=) rs1055193050 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.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.2796C>T (p.Val932=) rs747931365 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.285A>G (p.Gln95=) rs140051386 0.00001
NM_000264.5(PTCH1):c.2860G>A (p.Asp954Asn) rs772662871 0.00001
NM_000264.5(PTCH1):c.2907C>A (p.Ile969=) rs748318700 0.00001
NM_000264.5(PTCH1):c.2910G>A (p.Glu970=) rs147044276 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.303C>T (p.Phe101=) rs1425771551 0.00001
NM_000264.5(PTCH1):c.3045C>T (p.Phe1015=) rs1404182043 0.00001
NM_000264.5(PTCH1):c.3072C>T (p.Leu1024=) rs1588539992 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.3114C>T (p.Cys1038=) rs1303636474 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.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.3303T>C (p.Ala1101=) rs1588535331 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.3391G>A (p.Val1131Met) rs566619057 0.00001
NM_000264.5(PTCH1):c.339G>C (p.Ala113=) rs756224406 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.3477C>T (p.Leu1159=) rs1838313389 0.00001
NM_000264.5(PTCH1):c.3564C>T (p.Asn1188=) rs864622621 0.00001
NM_000264.5(PTCH1):c.3565G>A (p.Gly1189Ser) rs767535853 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.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.3651G>A (p.Gly1217=) rs1432605045 0.00001
NM_000264.5(PTCH1):c.3666C>T (p.Asp1222=) rs777377921 0.00001
NM_000264.5(PTCH1):c.3693G>A (p.Val1231=) rs376925924 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.3741G>A (p.Ala1247=) rs772544302 0.00001
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu) rs375857496 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.3787G>A (p.Val1263Ile) rs752831580 0.00001
NM_000264.5(PTCH1):c.3804T>C (p.Thr1268=) rs951501624 0.00001
NM_000264.5(PTCH1):c.3810C>A (p.Val1270=) rs1253970094 0.00001
NM_000264.5(PTCH1):c.382C>T (p.Leu128=) rs772674190 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.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.3888A>T (p.Gly1296=) rs1438891561 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.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.3975T>C (p.Ile1325=) rs45504199 0.00001
NM_000264.5(PTCH1):c.3987G>A (p.Gly1329=) rs539319573 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.4043A>G (p.Asn1348Ser) rs371943557 0.00001
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln) rs978722722 0.00001
NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) rs786204103 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.4107C>T (p.Thr1369=) rs1477977008 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.417A>G (p.Glu139=) rs755854293 0.00001
NM_000264.5(PTCH1):c.418T>C (p.Leu140=) rs2118549817 0.00001
NM_000264.5(PTCH1):c.4193G>A (p.Cys1398Tyr) rs1564004796 0.00001
NM_000264.5(PTCH1):c.4197A>G (p.Pro1399=) rs1331547195 0.00001
NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp) rs786204094 0.00001
NM_000264.5(PTCH1):c.4215C>T (p.Asp1405=) rs2136573135 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.4272T>C (p.Asp1424=) rs1340510752 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.4334G>A (p.Ser1445Asn) rs770268061 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.528A>G (p.Leu176=) rs771039964 0.00001
NM_000264.5(PTCH1):c.594A>G (p.Lys198=) rs1341335793 0.00001
NM_000264.5(PTCH1):c.618A>G (p.Ser206=) rs1841594710 0.00001
NM_000264.5(PTCH1):c.645C>T (p.Tyr215=) rs878853858 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.780C>T (p.Asp260=) rs2118426797 0.00001
NM_000264.5(PTCH1):c.783T>G (p.Pro261=) rs1554699996 0.00001
NM_000264.5(PTCH1):c.819T>C (p.Tyr273=) rs1060504534 0.00001
NM_000264.5(PTCH1):c.825G>A (p.Val275=) rs2118421809 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.903T>C (p.Asp301=) rs755042462 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.924C>A (p.Ala308=) rs765750044 0.00001
NM_000264.5(PTCH1):c.939A>G (p.Ser313=) rs1841439010 0.00001
NM_000264.5(PTCH1):c.955A>G (p.Met319Val) rs1438545679 0.00001
NM_000264.5(PTCH1):c.969G>A (p.Leu323=) rs771618979 0.00001
NM_000264.5(PTCH1):c.1008C>T (p.His336=) rs1841405475
NM_000264.5(PTCH1):c.1017G>A (p.Glu339=) rs2118391142
NM_000264.5(PTCH1):c.1032T>C (p.Gly344=) rs1588608443
NM_000264.5(PTCH1):c.1047C>T (p.Asn349=) rs2118388662
NM_000264.5(PTCH1):c.1056A>G (p.Gly352=) rs1841396845
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.1071C>A (p.Ala357=) rs1588606079
NM_000264.5(PTCH1):c.1071C>G (p.Ala357=) rs1588606079
NM_000264.5(PTCH1):c.1077C>G (p.Ala359=) rs2538217887
NM_000264.5(PTCH1):c.1086C>G (p.Thr362=) rs777969745
NM_000264.5(PTCH1):c.1107C>T (p.Pro369=) rs2118367351
NM_000264.5(PTCH1):c.1143T>C (p.Tyr381=) rs2538217162
NM_000264.5(PTCH1):c.1146C>G (p.Val382=) rs761718160
NM_000264.5(PTCH1):c.1152C>T (p.His384=) rs200246772
NM_000264.5(PTCH1):c.1185C>T (p.Ile395=) rs2538216797
NM_000264.5(PTCH1):c.1209T>C (p.Tyr403=) rs1432645175
NM_000264.5(PTCH1):c.1224T>C (p.His408=) rs2118339605
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=) rs2118337837
NM_000264.5(PTCH1):c.1251A>G (p.Gln417=) rs2118337388
NM_000264.5(PTCH1):c.1260T>G (p.Leu420=) rs2118336549
NM_000264.5(PTCH1):c.1266C>T (p.Phe422=) rs776867628
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.1278C>G (p.Thr426=)
NM_000264.5(PTCH1):c.1279C>T (p.Leu427=) rs2118334723
NM_000264.5(PTCH1):c.1290C>T (p.Ile430=) rs2118333456
NM_000264.5(PTCH1):c.1299C>A (p.Ser433=) rs1366832439
NM_000264.5(PTCH1):c.1299C>T (p.Ser433=) rs1366832439
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=) rs1588602538
NM_000264.5(PTCH1):c.1344C>T (p.Leu448=) rs1276244503
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.1365A>C (p.Leu455=) rs746805188
NM_000264.5(PTCH1):c.1365A>G (p.Leu455=) rs746805188
NM_000264.5(PTCH1):c.1374G>A (p.Leu458=) rs1304310096
NM_000264.5(PTCH1):c.1377C>T (p.Arg459=) rs1841166568
NM_000264.5(PTCH1):c.1395C>G (p.Ser465=) rs2538205669
NM_000264.5(PTCH1):c.1395C>T (p.Ser465=) rs2538205669
NM_000264.5(PTCH1):c.1413G>T (p.Leu471=) rs1588600742
NM_000264.5(PTCH1):c.1416T>G (p.Ala472=)
NM_000264.5(PTCH1):c.1419C>G (p.Gly473=) rs774841100
NM_000264.5(PTCH1):c.1423C>T (p.Leu475=) rs2538205367
NM_000264.5(PTCH1):c.1425G>A (p.Leu475=) rs2118306503
NM_000264.5(PTCH1):c.1425G>C (p.Leu475=) rs2118306503
NM_000264.5(PTCH1):c.1425G>T (p.Leu475=) rs2118306503
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=) rs1588600596
NM_000264.5(PTCH1):c.1449A>G (p.Ala483=) rs2538205106
NM_000264.5(PTCH1):c.1453C>T (p.Leu485=) rs2538205033
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=) rs1398912905
NM_000264.5(PTCH1):c.1468T>C (p.Leu490=) rs1841153549
NM_000264.5(PTCH1):c.1479T>C (p.Ile493=)
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=) rs1060504538
NM_000264.5(PTCH1):c.1504-4G>A rs1588598729
NM_000264.5(PTCH1):c.1504-4G>T rs1588598729
NM_000264.5(PTCH1):c.1512A>G (p.Pro504=) rs2538200350
NM_000264.5(PTCH1):c.1518C>T (p.Leu506=) rs1374700325
NM_000264.5(PTCH1):c.1536G>C (p.Val512=)
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.1566C>T (p.Phe522=) rs2118281892
NM_000264.5(PTCH1):c.1575A>G (p.Thr525=) rs2118281301
NM_000264.5(PTCH1):c.1575A>T (p.Thr525=) rs2118281301
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>A (p.Thr537=) rs780344685
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=) rs2118258297
NM_000264.5(PTCH1):c.1635A>C (p.Gly545=)
NM_000264.5(PTCH1):c.1653G>T (p.Thr551=) rs766039170
NM_000264.5(PTCH1):c.1656C>T (p.Ser552=) rs762816659
NM_000264.5(PTCH1):c.165C>T (p.Tyr55=)
NM_000264.5(PTCH1):c.1662C>T (p.Ser554=) rs769847137
NM_000264.5(PTCH1):c.1671A>G (p.Thr557=) rs1564046825
NM_000264.5(PTCH1):c.1680C>T (p.Phe560=) rs2118252476
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.1690T>C (p.Leu564=) rs2118251253
NM_000264.5(PTCH1):c.1695C>A (p.Ile565=)
NM_000264.5(PTCH1):c.1698A>C (p.Pro566=) rs2118250352
NM_000264.5(PTCH1):c.1704C>A (p.Pro568=)
NM_000264.5(PTCH1):c.1708C>T (p.Leu570=) rs1841004985
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=) rs2118248325
NM_000264.5(PTCH1):c.180C>T (p.Phe60=) rs1300249509
NM_000264.5(PTCH1):c.184C>T (p.Leu62=) rs1843886204
NM_000264.5(PTCH1):c.189G>A (p.Glu63=) rs1587700210
NM_000264.5(PTCH1):c.192G>A (p.Gln64=) rs1843885224
NM_000264.5(PTCH1):c.198C>A (p.Ser66=) rs1355794957
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.207G>A (p.Lys69=) rs1320211956
NM_000264.5(PTCH1):c.207G>C (p.Lys69Asn) rs1320211956
NM_000264.5(PTCH1):c.210T>C (p.Ala70=) rs1448235087
NM_000264.5(PTCH1):c.216C>G (p.Gly72=) rs1383963652
NM_000264.5(PTCH1):c.219G>T (p.Arg73=) rs944623019
NM_000264.5(PTCH1):c.222A>G (p.Lys74=) rs2538384899
NM_000264.5(PTCH1):c.228G>T (p.Pro76=) rs140542305
NM_000264.5(PTCH1):c.235C>T (p.Leu79=) rs1564088372
NM_000264.5(PTCH1):c.238A>C (p.Arg80=) rs2118880499
NM_000264.5(PTCH1):c.252G>A (p.Gln84=) rs587780698
NM_000264.5(PTCH1):c.255A>G (p.Arg85=)
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=) rs751613059
NM_000264.5(PTCH1):c.2574A>C (p.Ala858=) rs1228958424
NM_000264.5(PTCH1):c.2574A>G (p.Ala858=) rs1228958424
NM_000264.5(PTCH1):c.2586C>T (p.Asp862=)
NM_000264.5(PTCH1):c.258C>T (p.Leu86=)
NM_000264.5(PTCH1):c.2595C>A (p.Thr865=) rs144512837
NM_000264.5(PTCH1):c.2595C>G (p.Thr865=) rs144512837
NM_000264.5(PTCH1):c.2598G>A (p.Gly866=) rs2136689118
NM_000264.5(PTCH1):c.259T>C (p.Leu87=) rs2118879578
NM_000264.5(PTCH1):c.2601A>G (p.Lys867=) rs568888639
NM_000264.5(PTCH1):c.2613C>T (p.Asn871=) rs2538095069
NM_000264.5(PTCH1):c.2619C>T (p.Tyr873=)
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=) rs1192759234
NM_000264.5(PTCH1):c.2661G>A (p.Leu887=)
NM_000264.5(PTCH1):c.2673C>T (p.Gly891=) rs2099178630
NM_000264.5(PTCH1):c.2679C>A (p.Arg893=) rs752658093
NM_000264.5(PTCH1):c.2688C>T (p.Pro896=)
NM_000264.5(PTCH1):c.268C>T (p.Leu90=) rs1587693584
NM_000264.5(PTCH1):c.2694C>T (p.Asp898=) rs2136686730
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=) rs1248066659
NM_000264.5(PTCH1):c.2714A>G (p.Gln905Arg)
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=) rs1588545017
NM_000264.5(PTCH1):c.2736C>A (p.Gly912=) rs2136672893
NM_000264.5(PTCH1):c.2736C>T (p.Gly912=)
NM_000264.5(PTCH1):c.2739C>T (p.Ile913=) rs1305314328
NM_000264.5(PTCH1):c.273T>A (p.Gly91=) rs2538383833
NM_000264.5(PTCH1):c.273T>C (p.Gly91=) rs2538383833
NM_000264.5(PTCH1):c.2754T>C (p.Ala918=) rs1588544935
NM_000264.5(PTCH1):c.2763C>A (p.Ile921=) rs1564021738
NM_000264.5(PTCH1):c.2763C>T (p.Ile921=)
NM_000264.5(PTCH1):c.2772G>T (p.Thr924=) rs1554691694
NM_000264.5(PTCH1):c.2793C>A (p.Pro931=)
NM_000264.5(PTCH1):c.2802T>C (p.Tyr934=) rs1356231878
NM_000264.5(PTCH1):c.2808C>T (p.Ala936=) rs1393599414
NM_000264.5(PTCH1):c.2824C>A (p.Arg942=) rs756465236
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.2833C>A (p.Arg945=)
NM_000264.5(PTCH1):c.2853C>T (p.Asp951=) rs1839277894
NM_000264.5(PTCH1):c.2880G>A (p.Arg960=)
NM_000264.5(PTCH1):c.288A>G (p.Lys96=) rs1843659466
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.2916C>G (p.Ala972=) rs1313745659
NM_000264.5(PTCH1):c.291C>T (p.Asn97=) rs1318662503
NM_000264.5(PTCH1):c.2925T>A (p.Pro975=)
NM_000264.5(PTCH1):c.2925T>C (p.Pro975=) rs2136662510
NM_000264.5(PTCH1):c.2925T>G (p.Pro975=)
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=) rs753414816
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>G (p.Thr984=) rs2538069308
NM_000264.5(PTCH1):c.2961T>C (p.Phe987=) rs2136662098
NM_000264.5(PTCH1):c.2964G>A (p.Val988=) rs1006374375
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.2988C>G (p.Thr996=) rs759501618
NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn) rs2136661686
NM_000264.5(PTCH1):c.3003T>C (p.Tyr1001=) rs1060502298
NM_000264.5(PTCH1):c.300G>A (p.Lys100=)
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val) rs864622620
NM_000264.5(PTCH1):c.3010C>T (p.Leu1004=) rs864622620
NM_000264.5(PTCH1):c.3015G>A (p.Gly1005=) rs2136661467
NM_000264.5(PTCH1):c.3018G>A (p.Leu1006=) rs863224350
NM_000264.5(PTCH1):c.3021C>G (p.Ser1007=)
NM_000264.5(PTCH1):c.3036C>T (p.Gly1012=) rs2538068210
NM_000264.5(PTCH1):c.3042C>T (p.Pro1014=) rs757821035
NM_000264.5(PTCH1):c.3048C>G (p.Leu1016=) rs1165046037
NM_000264.5(PTCH1):c.3060G>A (p.Gln1020=) rs1839113709
NM_000264.5(PTCH1):c.3069C>G (p.Gly1023=) rs767289081
NM_000264.5(PTCH1):c.3069C>T (p.Gly1023=)
NM_000264.5(PTCH1):c.3075C>G (p.Arg1025=) rs2538067684
NM_000264.5(PTCH1):c.3078C>T (p.His1026=) rs2136660617
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.3102G>C (p.Val1034=) rs2538067360
NM_000264.5(PTCH1):c.3105G>A (p.Val1035=) rs2136660293
NM_000264.5(PTCH1):c.3105G>T (p.Val1035=) rs2136660293
NM_000264.5(PTCH1):c.3108G>A (p.Leu1036=) rs2538067309
NM_000264.5(PTCH1):c.3111C>G (p.Ala1037=) rs1009386754
NM_000264.5(PTCH1):c.3123C>T (p.Leu1041=) rs1554691356
NM_000264.5(PTCH1):c.312G>A (p.Val104=) rs1166757525
NM_000264.5(PTCH1):c.312G>C (p.Val104=)
NM_000264.5(PTCH1):c.312G>T (p.Val104=) rs1166757525
NM_000264.5(PTCH1):c.3132T>G (p.Ala1044=) rs1166490973
NM_000264.5(PTCH1):c.3141T>A (p.Leu1047=) rs2066835
NM_000264.5(PTCH1):c.3150C>G (p.Pro1050=) rs149398794
NM_000264.5(PTCH1):c.3156G>T (p.Thr1052=) rs549164233
NM_000264.5(PTCH1):c.315C>T (p.Gly105=) rs1060504542
NM_000264.5(PTCH1):c.3171G>T (p.Val1057=) rs2136650471
NM_000264.5(PTCH1):c.3177C>G (p.Val1059=) rs2136650375
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.3183G>T (p.Ala1061=)
NM_000264.5(PTCH1):c.3192G>T (p.Thr1064=)
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=) rs757524974
NM_000264.5(PTCH1):c.3225A>T (p.Gly1075=) rs757101018
NM_000264.5(PTCH1):c.3231G>A (p.Lys1077=) rs2136649043
NM_000264.5(PTCH1):c.3237T>C (p.Ser1079=) rs1838925156
NM_000264.5(PTCH1):c.3240C>A (p.Ala1080=) rs200347952
NM_000264.5(PTCH1):c.3256C>T (p.Leu1086=) rs777291938
NM_000264.5(PTCH1):c.3261C>A (p.Ile1087=) rs768215021
NM_000264.5(PTCH1):c.3267T>C (p.Ser1089=)
NM_000264.5(PTCH1):c.327T>C (p.Phe109=) rs2118876372
NM_000264.5(PTCH1):c.3288C>T (p.Phe1096=) rs745563970
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=) rs748117539
NM_000264.5(PTCH1):c.3324C>T (p.Ile1108=) rs748117539
NM_000264.5(PTCH1):c.3336C>T (p.Asn1112=) rs2538041349
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=) rs1050913562
NM_000264.5(PTCH1):c.3344C>T (p.Ala1115Val) rs779192138
NM_000264.5(PTCH1):c.3351T>C (p.Leu1117=) rs2538041199
NM_000264.5(PTCH1):c.3355C>T (p.Leu1119=) rs2538041144
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=) rs2136631831
NM_000264.5(PTCH1):c.336C>T (p.Phe112=) rs1490482816
NM_000264.5(PTCH1):c.3375C>A (p.Pro1125=) rs369760318
NM_000264.5(PTCH1):c.3378C>G (p.Val1126=) rs2538040852
NM_000264.5(PTCH1):c.3378C>T (p.Val1126=) rs2538040852
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.3393G>T (p.Val1131=) rs1267662604
NM_000264.5(PTCH1):c.339G>A (p.Ala113=) rs756224406
NM_000264.5(PTCH1):c.339G>T (p.Ala113=) rs756224406
NM_000264.5(PTCH1):c.3402G>A (p.Leu1134=) rs2136631292
NM_000264.5(PTCH1):c.3402G>T (p.Leu1134=) rs2136631292
NM_000264.5(PTCH1):c.3403C>T (p.Leu1135=)
NM_000264.5(PTCH1):c.3405G>A (p.Leu1135=) rs2136631245
NM_000264.5(PTCH1):c.3408A>C (p.Gly1136=) rs769601779
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.3429T>A (p.Ser1143=) rs778900289
NM_000264.5(PTCH1):c.3432G>A (p.Glu1144=) rs2136630962
NM_000264.5(PTCH1):c.3438C>T (p.Asp1146=) rs1554690401
NM_000264.5(PTCH1):c.3456C>T (p.Phe1152=) rs2136608496
NM_000264.5(PTCH1):c.3466C>T (p.Leu1156=)
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.3483C>A (p.Ile1161=) rs761421461
NM_000264.5(PTCH1):c.3483C>T (p.Ile1161=) rs761421461
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=) rs2538021186
NM_000264.5(PTCH1):c.3498T>C (p.Asn1166=) rs2136607870
NM_000264.5(PTCH1):c.3501G>C (p.Gly1167=) rs2136607834
NM_000264.5(PTCH1):c.3501G>T (p.Gly1167=) rs2136607834
NM_000264.5(PTCH1):c.3507T>A (p.Val1169=) rs2538021066
NM_000264.5(PTCH1):c.3516C>G (p.Pro1172=)
NM_000264.5(PTCH1):c.3519G>C (p.Val1173=) rs1588519366
NM_000264.5(PTCH1):c.351A>G (p.Lys117=) rs2118875385
NM_000264.5(PTCH1):c.3540A>C (p.Pro1180=) rs930364103
NM_000264.5(PTCH1):c.3543T>C (p.Tyr1181=) rs2538020720
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=) rs2136602539
NM_000264.5(PTCH1):c.3577C>T (p.Leu1193=)
NM_000264.5(PTCH1):c.357G>A (p.Ala119=)
NM_000264.5(PTCH1):c.357G>T (p.Ala119=) rs377575915
NM_000264.5(PTCH1):c.3582C>G (p.Pro1194=) rs2136602162
NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=) rs1317133080
NM_000264.5(PTCH1):c.3600A>C (p.Pro1200=) rs1588517717
NM_000264.5(PTCH1):c.3603C>T (p.Pro1201=) rs1243423373
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=) rs1327411160
NM_000264.5(PTCH1):c.3612G>A (p.Val1204=) rs2136601481
NM_000264.5(PTCH1):c.3612G>T (p.Val1204=) rs2136601481
NM_000264.5(PTCH1):c.3615C>G (p.Val1205=) rs2136601399
NM_000264.5(PTCH1):c.3618C>A (p.Arg1206=)
NM_000264.5(PTCH1):c.3618C>T (p.Arg1206=) rs2136601323
NM_000264.5(PTCH1):c.3622G>T (p.Ala1208Ser) rs945517672
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=) rs1168138539
NM_000264.5(PTCH1):c.363C>T (p.Leu121=) rs1168138539
NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn) rs1554689404
NM_000264.5(PTCH1):c.3647G>A (p.Ser1216Asn)
NM_000264.5(PTCH1):c.3651G>C (p.Gly1217=) rs1432605045
NM_000264.5(PTCH1):c.3654T>C (p.Ser1218=) rs2136600344
NM_000264.5(PTCH1):c.3654T>G (p.Ser1218=) rs2136600344
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.3669G>C (p.Ser1223=)
NM_000264.5(PTCH1):c.3672G>A (p.Glu1224=) rs2136599908
NM_000264.5(PTCH1):c.3678T>C (p.Ser1226=) rs1588517173
NM_000264.5(PTCH1):c.3681C>A (p.Ser1227=) rs1337387100
NM_000264.5(PTCH1):c.3684G>A (p.Gln1228=) rs2136599643
NM_000264.5(PTCH1):c.3693G>C (p.Val1231=) rs376925924
NM_000264.5(PTCH1):c.3699C>T (p.Gly1233=) rs2136599196
NM_000264.5(PTCH1):c.369C>G (p.Thr123=) rs2118874346
NM_000264.5(PTCH1):c.369C>T (p.Thr123=) rs2118874346
NM_000264.5(PTCH1):c.3702C>T (p.Leu1234=) rs2136599047
NM_000264.5(PTCH1):c.3717G>A (p.Arg1239=) rs1299281832
NM_000264.5(PTCH1):c.3726G>A (p.Glu1242=) rs1838214724
NM_000264.5(PTCH1):c.3729C>G (p.Ala1243=) rs752919936
NM_000264.5(PTCH1):c.372C>T (p.Asn124=)
NM_000264.5(PTCH1):c.3738C>G (p.Gly1246=) rs771308724
NM_000264.5(PTCH1):c.3741G>C (p.Ala1247=) rs772544302
NM_000264.5(PTCH1):c.3750T>A (p.Pro1250=) rs2538013048
NM_000264.5(PTCH1):c.3756C>T (p.His1252=) rs768484663
NM_000264.5(PTCH1):c.375G>A (p.Val125=) rs1843648418
NM_000264.5(PTCH1):c.3762G>A (p.Val1254=) rs2136597411
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=) rs758229027
NM_000264.5(PTCH1):c.3768G>A (p.Val1256=)
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser) rs970679518
NM_000264.5(PTCH1):c.378G>A (p.Glu126=) rs2118873953
NM_000264.5(PTCH1):c.3798C>T (p.His1266=) rs2136596563
NM_000264.5(PTCH1):c.3816C>A (p.Pro1272=) rs369295226
NM_000264.5(PTCH1):c.3816C>G (p.Pro1272=) rs369295226
NM_000264.5(PTCH1):c.3822C>T (p.Ser1274=) rs2136584706
NM_000264.5(PTCH1):c.3823A>C (p.Arg1275=) rs1588512429
NM_000264.5(PTCH1):c.3831C>T (p.His1277=) rs2538003227
NM_000264.5(PTCH1):c.3840G>T (p.Ser1280=) rs750770371
NM_000264.5(PTCH1):c.3846G>C (p.Pro1282=) rs754412168
NM_000264.5(PTCH1):c.384G>C (p.Leu128=) rs990879355
NM_000264.5(PTCH1):c.384G>T (p.Leu128=)
NM_000264.5(PTCH1):c.3858C>T (p.Pro1286=) rs1222530728
NM_000264.5(PTCH1):c.3861C>T (p.His1287=) rs1564006159
NM_000264.5(PTCH1):c.3867C>T (p.Asp1289=) rs587780704
NM_000264.5(PTCH1):c.3870A>T (p.Ser1290=) rs2136583511
NM_000264.5(PTCH1):c.3888A>C (p.Gly1296=) rs1438891561
NM_000264.5(PTCH1):c.3891G>C (p.Arg1297=) rs1564006067
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=) rs2136582679
NM_000264.5(PTCH1):c.3900G>A (p.Gln1300=) rs2136582567
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.5(PTCH1):c.3909C>G (p.Arg1303=) rs1458552244
NM_000264.5(PTCH1):c.3909C>T (p.Arg1303=) rs1458552244
NM_000264.5(PTCH1):c.3910A>C (p.Arg1304=) rs2136582251
NM_000264.5(PTCH1):c.3912G>A (p.Arg1304=) rs757702954
NM_000264.5(PTCH1):c.3915C>G (p.Asp1305Glu) rs786204201
NM_000264.5(PTCH1):c.3915C>T (p.Asp1305=) rs786204201
NM_000264.5(PTCH1):c.3918C>G (p.Pro1306=)
NM_000264.5(PTCH1):c.3918C>T (p.Pro1306=) rs2136581999
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=) rs2136581361
NM_000264.5(PTCH1):c.3942C>T (p.Pro1314=) rs1406247800
NM_000264.5(PTCH1):c.3945C>T (p.Pro1315=)
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg) rs536440590
NM_000264.5(PTCH1):c.3954G>T (p.Pro1318=)
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=) rs1554688549
NM_000264.5(PTCH1):c.3966T>G (p.Ala1322=) rs2136580510
NM_000264.5(PTCH1):c.396T>C (p.Val132=) rs2118551502
NM_000264.5(PTCH1):c.3972A>G (p.Glu1324=)
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=) rs2538000060
NM_000264.5(PTCH1):c.399A>G (p.Gly133=) rs2118551268
NM_000264.5(PTCH1):c.4005T>C (p.Asn1335=) rs1588511343
NM_000264.5(PTCH1):c.4011C>T (p.Ala1337=) rs2136579264
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=) rs773564643
NM_000264.5(PTCH1):c.4023T>A (p.Pro1341=) rs2136578922
NM_000264.5(PTCH1):c.4023T>G (p.Pro1341=) rs2136578922
NM_000264.5(PTCH1):c.4029G>A (p.Gly1343=) rs750057721
NM_000264.5(PTCH1):c.4035T>G (p.Arg1345=) rs2136578564
NM_000264.5(PTCH1):c.4041C>A (p.His1347Gln) rs774524114
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys) rs1412873206
NM_000264.5(PTCH1):c.4044C>T (p.Asn1348=) rs1412873206
NM_000264.5(PTCH1):c.4047T>C (p.Pro1349=) rs1195417609
NM_000264.5(PTCH1):c.4048C>A (p.Arg1350=) rs140417636
NM_000264.5(PTCH1):c.4052A>G (p.Asn1351Ser) rs1588510932
NM_000264.5(PTCH1):c.4053C>A (p.Asn1351Lys) rs1564005341
NM_000264.5(PTCH1):c.4053C>T (p.Asn1351=) rs1564005341
NM_000264.5(PTCH1):c.4065T>A (p.Thr1355=) rs2136577623
NM_000264.5(PTCH1):c.4069A>G (p.Met1357Val) rs757909121
NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu) rs757909121
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.4081G>T (p.Val1361Leu) rs753535745
NM_000264.5(PTCH1):c.4087G>C (p.Gly1363Arg) rs767625820
NM_000264.5(PTCH1):c.4089C>T (p.Gly1363=) rs2136576837
NM_000264.5(PTCH1):c.4095C>T (p.Cys1365=) rs864622569
NM_000264.5(PTCH1):c.4098G>A (p.Gln1366=)
NM_000264.5(PTCH1):c.4104C>T (p.Ile1368=) rs2136576399
NM_000264.5(PTCH1):c.4107C>G (p.Thr1369=)
NM_000264.5(PTCH1):c.410G>A (p.Ser137Asn) rs2118550508
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=) rs2136575988
NM_000264.5(PTCH1):c.4122T>C (p.Ser1374=)
NM_000264.5(PTCH1):c.4125C>G (p.Ala1375=) rs775974258
NM_000264.5(PTCH1):c.4125C>T (p.Ala1375=) rs775974258
NM_000264.5(PTCH1):c.4128C>A (p.Ser1376=) rs142148876
NM_000264.5(PTCH1):c.4131G>C (p.Val1377=) rs2136575661
NM_000264.5(PTCH1):c.4134T>A (p.Thr1378=) rs775499386
NM_000264.5(PTCH1):c.4140C>A (p.Ala1380=) rs752595145
NM_000264.5(PTCH1):c.4155T>G (p.Pro1385=) rs2136574783
NM_000264.5(PTCH1):c.4156G>A (p.Val1386Ile) rs915925601
NM_000264.5(PTCH1):c.4164G>A (p.Gly1388=) rs2537996976
NM_000264.5(PTCH1):c.4167T>C (p.Pro1389=) rs531218594
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.4188A>G (p.Gly1396=) rs2136573868
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=) rs746984729
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.4206T>C (p.Pro1402=)
NM_000264.5(PTCH1):c.4209G>A (p.Glu1403=) rs1588510050
NM_000264.5(PTCH1):c.4221C>G (p.Gly1407=)
NM_000264.5(PTCH1):c.4221C>T (p.Gly1407=) rs767937399
NM_000264.5(PTCH1):c.4222C>T (p.Leu1408=) rs2136572922
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=) rs369083374
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=) rs1390378010
NM_000264.5(PTCH1):c.4245T>C (p.Pro1415=)
NM_000264.5(PTCH1):c.4248C>T (p.Phe1416=) rs1564004573
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.4266G>A (p.Arg1422=) rs2136571735
NM_000264.5(PTCH1):c.426T>C (p.Tyr142=) rs2538269715
NM_000264.5(PTCH1):c.4275G>C (p.Ser1425=) rs756270271
NM_000264.5(PTCH1):c.4275G>T (p.Ser1425=) rs756270271
NM_000264.5(PTCH1):c.4296G>A (p.Leu1432=) rs1554688070
NM_000264.5(PTCH1):c.4296G>C (p.Leu1432=) rs1554688070
NM_000264.5(PTCH1):c.4296G>T (p.Leu1432=) rs1554688070
NM_000264.5(PTCH1):c.429T>A (p.Thr143=) rs144117078
NM_000264.5(PTCH1):c.4305G>A (p.Val1435=) rs2537994193
NM_000264.5(PTCH1):c.4323C>G (p.Pro1441=) rs2537993977
NM_000264.5(PTCH1):c.4323C>T (p.Pro1441=) rs2537993977
NM_000264.5(PTCH1):c.4324C>A (p.Arg1442=) rs143464326
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val) rs864622100
NM_000264.5(PTCH1):c.4331G>A (p.Ser1444Asn) rs1347860599
NM_000264.5(PTCH1):c.4332C>T (p.Ser1444=) rs1325469372
NM_000264.5(PTCH1):c.4335C>T (p.Ser1445=) rs2537993815
NM_000264.5(PTCH1):c.4338C>T (p.Ser1446=) rs2537993781
NM_000264.5(PTCH1):c.4341C>A (p.Asn1447Lys) rs1837949550
NM_000264.5(PTCH1):c.438G>A (p.Lys146=) rs1396282545
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=) rs2118544838
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=) rs1841917213
NM_000264.5(PTCH1):c.510G>A (p.Leu170=) rs531730217
NM_000264.5(PTCH1):c.510G>T (p.Leu170=) rs531730217
NM_000264.5(PTCH1):c.513C>G (p.Thr171=) rs2118542159
NM_000264.5(PTCH1):c.516A>G (p.Thr172=) rs2538267753
NM_000264.5(PTCH1):c.525C>T (p.Leu175=) rs1554702079
NM_000264.5(PTCH1):c.531A>G (p.Gln177=) rs1841912540
NM_000264.5(PTCH1):c.535C>T (p.Leu179=)
NM_000264.5(PTCH1):c.543G>T (p.Ser181=) rs1461606997
NM_000264.5(PTCH1):c.552G>A (p.Gln184=) rs369893129
NM_000264.5(PTCH1):c.555C>G (p.Ala185=)
NM_000264.5(PTCH1):c.555C>T (p.Ala185=) rs1197767332
NM_000264.5(PTCH1):c.561T>C (p.Arg187=) rs2538266720
NM_000264.5(PTCH1):c.564C>G (p.Val188=) rs963079015
NM_000264.5(PTCH1):c.564C>T (p.Val188=) rs963079015
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.636A>G (p.Glu212=) rs2538247390
NM_000264.5(PTCH1):c.642T>A (p.Gly214=) rs2538247310
NM_000264.5(PTCH1):c.657A>C (p.Ile219=) rs1425544626
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=) rs2538245801
NM_000264.5(PTCH1):c.684T>C (p.Ile228=)
NM_000264.5(PTCH1):c.693T>C (p.Pro231=) rs2118464007
NM_000264.5(PTCH1):c.702C>T (p.Cys234=) rs1841574509
NM_000264.5(PTCH1):c.705C>T (p.Phe235=) rs2118463235
NM_000264.5(PTCH1):c.714G>A (p.Gly238=)
NM_000264.5(PTCH1):c.726G>A (p.Gln242=) rs2118460690
NM_000264.5(PTCH1):c.750T>G (p.Gly250=) rs2118428741
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.795G>A (p.Leu265=) rs2118425214
NM_000264.5(PTCH1):c.798A>G (p.Glu266=) rs752770437
NM_000264.5(PTCH1):c.804A>G (p.Leu268=) rs1421389999
NM_000264.5(PTCH1):c.807G>A (p.Lys269=) rs2118423662
NM_000264.5(PTCH1):c.816C>T (p.Asn272=) rs2118422809
NM_000264.5(PTCH1):c.822A>G (p.Gln274=) rs1182657633
NM_000264.5(PTCH1):c.831C>T (p.Ser277=) rs773794742
NM_000264.5(PTCH1):c.846G>A (p.Leu282=) rs1291664404
NM_000264.5(PTCH1):c.855T>C (p.Ala285=) rs1060504539
NM_000264.5(PTCH1):c.858G>A (p.Glu286=) rs2118419020
NM_000264.5(PTCH1):c.879C>T (p.Asp293=) rs2118417517
NM_000264.5(PTCH1):c.885C>G (p.Pro295=) rs758134031
NM_000264.5(PTCH1):c.885C>T (p.Pro295=) rs758134031
NM_000264.5(PTCH1):c.897G>C (p.Pro299=) rs56141639
NM_000264.5(PTCH1):c.897G>T (p.Pro299=)
NM_000264.5(PTCH1):c.900C>A (p.Ala300=) rs201962105
NM_000264.5(PTCH1):c.900C>G (p.Ala300=) rs201962105
NM_000264.5(PTCH1):c.906A>T (p.Pro302=) rs2538231072
NM_000264.5(PTCH1):c.918C>A (p.Ala306=)
NM_000264.5(PTCH1):c.924C>T (p.Ala308=)
NM_000264.5(PTCH1):c.942C>T (p.Thr314=)
NM_000264.5(PTCH1):c.951T>A (p.Leu317=)
NM_000264.5(PTCH1):c.954T>C (p.Asp318=) rs2118396164
NM_000264.5(PTCH1):c.960C>T (p.Ala320=) rs1180144360
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.987C>T (p.Gly329=) rs1841408748
NM_000264.5(PTCH1):c.990A>G (p.Leu330=) rs2538225889
NM_000264.5(PTCH1):c.999G>A (p.Lys333=) rs1841407046
NM_001083603.3(PTCH1):c.130GAA[6] (p.Glu48_Asn49insGlu) rs112914470

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