ClinVar Miner

List of variants in gene PTCH1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1767
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=) rs2066836 0.15395
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=) rs1805155 0.12597
NM_000264.5(PTCH1):c.1504-8T>C rs2277184 0.07277
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=) rs2066835 0.03773
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178 0.01089
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=) rs62637630 0.00663
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00466
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=) rs111446700 0.00379
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135 0.00128
NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896 0.00088
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=) rs56007343 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=) rs145196322 0.00065
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000264.5(PTCH1):c.1080G>A (p.Leu360=) rs2066839 0.00049
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=) rs139123130 0.00048
NM_000264.5(PTCH1):c.1183A>G (p.Ile395Val) rs139498131 0.00043
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979 0.00041
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
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.3150C>T (p.Pro1050=) rs149398794 0.00021
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.3251T>C (p.Val1084Ala) rs1463935039 0.00019
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532 0.00017
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) rs200620662 0.00016
NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr) rs149547604 0.00016
NM_000264.5(PTCH1):c.567T>C (p.His189=) rs150759973 0.00016
NM_000264.5(PTCH1):c.346T>C (p.Leu116=) rs576398790 0.00015
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met) rs149667902 0.00014
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883 0.00014
NM_000264.5(PTCH1):c.2595C>T (p.Thr865=) rs144512837 0.00013
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser) rs570091335 0.00012
NM_000264.5(PTCH1):c.3027C>T (p.Tyr1009=) rs747234651 0.00012
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=) rs200435277 0.00012
NM_000264.5(PTCH1):c.896C>T (p.Pro299Leu) rs141939274 0.00012
NM_000264.5(PTCH1):c.560G>A (p.Arg187His) rs138034434 0.00011
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759 0.00010
NM_000264.5(PTCH1):c.2859C>T (p.Ala953=) rs142131559 0.00010
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) rs144182921 0.00010
NM_000264.5(PTCH1):c.3716G>A (p.Arg1239Gln) rs758728491 0.00010
NM_000264.5(PTCH1):c.3889C>T (p.Arg1297Trp) rs372027952 0.00010
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His) rs779365332 0.00010
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952 0.00010
NM_000264.5(PTCH1):c.1002T>C (p.Tyr334=) rs145867500 0.00009
NM_000264.5(PTCH1):c.1247C>G (p.Thr416Ser) rs201174718 0.00009
NM_000264.5(PTCH1):c.174C>T (p.Ala58=) rs368563182 0.00009
NM_000264.5(PTCH1):c.2771C>T (p.Thr924Met) rs1456450494 0.00009
NM_000264.5(PTCH1):c.3531C>T (p.Phe1177=) rs587780702 0.00009
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=) rs369295226 0.00009
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606 0.00009
NM_000264.5(PTCH1):c.1308C>T (p.Asp436=) rs148471237 0.00008
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000264.5(PTCH1):c.3792C>T (p.Phe1264=) rs144312968 0.00008
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275 0.00008
NM_000264.5(PTCH1):c.420A>G (p.Leu140=) rs372559495 0.00008
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=) rs201357130 0.00008
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00008
NM_000264.5(PTCH1):c.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.3963C>T (p.Asp1321=) rs139071993 0.00007
NM_000264.5(PTCH1):c.882C>T (p.Arg294=) rs145893445 0.00007
NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu) rs370755364 0.00007
NM_000264.5(PTCH1):c.1342C>A (p.Leu448Ile) rs537871675 0.00006
NM_000264.5(PTCH1):c.1713G>T (p.Arg571=) rs762575636 0.00006
NM_000264.5(PTCH1):c.2689A>G (p.Ile897Val) rs758483793 0.00006
NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn) rs531947455 0.00006
NM_000264.5(PTCH1):c.3516C>T (p.Pro1172=) rs775292833 0.00006
NM_000264.5(PTCH1):c.3648C>T (p.Ser1216=) rs377608291 0.00006
NM_000264.5(PTCH1):c.4025G>A (p.Arg1342His) rs575146278 0.00006
NM_000264.5(PTCH1):c.4134T>C (p.Thr1378=) rs775499386 0.00006
NM_000264.5(PTCH1):c.4212T>C (p.Thr1404=) rs139086753 0.00006
NM_000264.5(PTCH1):c.4255C>T (p.Arg1419Trp) rs139942632 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.3561C>G (p.Ala1187=) rs1161608601 0.00005
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His) rs771238114 0.00005
NM_000264.5(PTCH1):c.4256G>A (p.Arg1419Gln) rs372686352 0.00005
NM_000264.5(PTCH1):c.1063G>A (p.Val355Ile) rs555332902 0.00004
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 0.00004
NM_000264.5(PTCH1):c.1223A>G (p.His408Arg) rs763941524 0.00004
NM_000264.5(PTCH1):c.1388C>G (p.Ser463Cys) rs764195249 0.00004
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser) rs181192122 0.00004
NM_000264.5(PTCH1):c.1710G>T (p.Leu570=) rs374924167 0.00004
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573 0.00004
NM_000264.5(PTCH1):c.2814G>A (p.Gln938=) rs587780534 0.00004
NM_000264.5(PTCH1):c.2865C>T (p.Tyr955=) rs764854579 0.00004
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val) rs587780699 0.00004
NM_000264.5(PTCH1):c.2892G>A (p.Pro964=) rs377213209 0.00004
NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met) rs769924767 0.00004
NM_000264.5(PTCH1):c.3338G>A (p.Arg1113His) rs143781513 0.00004
NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=) rs369760318 0.00004
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val) rs376844749 0.00004
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn) rs749542089 0.00004
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His) rs762040036 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.3817G>A (p.Glu1273Lys) rs749244396 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.404G>A (p.Arg135Gln) rs375628555 0.00004
NM_000264.5(PTCH1):c.4059G>A (p.Ala1353=) rs368110756 0.00004
NM_000264.5(PTCH1):c.4076G>A (p.Ser1359Asn) rs745451899 0.00004
NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=) rs375588552 0.00004
NM_000264.5(PTCH1):c.4137C>T (p.Val1379=) rs149091602 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000264.5(PTCH1):c.4275G>A (p.Ser1425=) rs756270271 0.00004
NM_000264.5(PTCH1):c.4281G>A (p.Val1427=) rs767698482 0.00004
NM_000264.5(PTCH1):c.588G>A (p.Gln196=) rs775859621 0.00004
NM_000264.5(PTCH1):c.624G>A (p.Glu208=) rs777231059 0.00004
NM_000264.5(PTCH1):c.897G>A (p.Pro299=) rs56141639 0.00004
NM_000264.5(PTCH1):c.1164C>T (p.Asn388=) rs201602238 0.00003
NM_000264.5(PTCH1):c.1293G>A (p.Leu431=) rs200313703 0.00003
NM_000264.5(PTCH1):c.1348-4G>A rs772826555 0.00003
NM_000264.5(PTCH1):c.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.208G>A (p.Ala70Thr) rs753960393 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.2792C>G (p.Pro931Arg) rs772928587 0.00003
NM_000264.5(PTCH1):c.2850C>T (p.His950=) rs200776583 0.00003
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val) rs774440323 0.00003
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=) rs751797047 0.00003
NM_000264.5(PTCH1):c.3201G>C (p.Leu1067=) rs370906015 0.00003
NM_000264.5(PTCH1):c.3240C>T (p.Ala1080=) rs200347952 0.00003
NM_000264.5(PTCH1):c.3246C>T (p.Pro1082=) rs750725851 0.00003
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=) rs141016655 0.00003
NM_000264.5(PTCH1):c.3371C>T (p.Ala1124Val) rs374187104 0.00003
NM_000264.5(PTCH1):c.3390C>T (p.Ala1130=) rs762637887 0.00003
NM_000264.5(PTCH1):c.3540A>G (p.Pro1180=) rs930364103 0.00003
NM_000264.5(PTCH1):c.3616C>T (p.Arg1206Cys) rs772537644 0.00003
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu) rs781062564 0.00003
NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser) rs559827048 0.00003
NM_000264.5(PTCH1):c.3639C>T (p.His1213=) rs761797443 0.00003
NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met) rs200029534 0.00003
NM_000264.5(PTCH1):c.3739G>A (p.Ala1247Thr) rs369966295 0.00003
NM_000264.5(PTCH1):c.3758A>G (p.Gln1253Arg) rs146390067 0.00003
NM_000264.5(PTCH1):c.379G>A (p.Glu127Lys) rs774822170 0.00003
NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile) rs938997251 0.00003
NM_000264.5(PTCH1):c.3881C>T (p.Pro1294Leu) rs767166469 0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 0.00003
NM_000264.5(PTCH1):c.4012C>T (p.Arg1338Cys) rs374346190 0.00003
NM_000264.5(PTCH1):c.4087G>A (p.Gly1363Ser) rs767625820 0.00003
NM_000264.5(PTCH1):c.4140C>T (p.Ala1380=) rs752595145 0.00003
NM_000264.5(PTCH1):c.4144C>T (p.His1382Tyr) rs377484697 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.4186G>A (p.Gly1396Arg) rs1060502276 0.00003
NM_000264.5(PTCH1):c.4251C>T (p.His1417=) rs371960721 0.00003
NM_000264.5(PTCH1):c.4312G>A (p.Glu1438Lys) rs768254901 0.00003
NM_000264.5(PTCH1):c.4321C>T (p.Pro1441Ser) rs746800536 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.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.947C>A (p.Pro316His) rs143813198 0.00003
NM_000264.5(PTCH1):c.975T>C (p.Gly325=) rs149018937 0.00003
NM_000264.5(PTCH1):c.1039G>C (p.Val347Leu) rs1060502279 0.00002
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn) rs779294007 0.00002
NM_000264.5(PTCH1):c.1058A>G (p.Lys353Arg) rs757579309 0.00002
NM_000264.5(PTCH1):c.1067G>A (p.Ser356Asn) rs764579762 0.00002
NM_000264.5(PTCH1):c.1069G>A (p.Ala357Thr) rs779204091 0.00002
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys) rs144323077 0.00002
NM_000264.5(PTCH1):c.1192G>A (p.Ala398Thr) rs937023804 0.00002
NM_000264.5(PTCH1):c.1207T>C (p.Tyr403His) rs1349048226 0.00002
NM_000264.5(PTCH1):c.1275G>A (p.Thr425=) rs150837425 0.00002
NM_000264.5(PTCH1):c.1324G>A (p.Val442Met) rs759493890 0.00002
NM_000264.5(PTCH1):c.1332C>T (p.Ser444=) rs373930674 0.00002
NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr) rs142791675 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.2797G>A (p.Ala933Thr) rs373120584 0.00002
NM_000264.5(PTCH1):c.2938G>A (p.Gly980Ser) rs778337760 0.00002
NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=) rs142362404 0.00002
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=) rs755755175 0.00002
NM_000264.5(PTCH1):c.3067G>A (p.Gly1023Ser) rs752317944 0.00002
NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met) rs760902564 0.00002
NM_000264.5(PTCH1):c.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.3391G>A (p.Val1131Met) rs566619057 0.00002
NM_000264.5(PTCH1):c.3429T>C (p.Ser1143=) rs778900289 0.00002
NM_000264.5(PTCH1):c.3541T>C (p.Tyr1181His) rs367784268 0.00002
NM_000264.5(PTCH1):c.3610G>A (p.Val1204Met) rs370675945 0.00002
NM_000264.5(PTCH1):c.3621C>T (p.Phe1207=) rs778335980 0.00002
NM_000264.5(PTCH1):c.3623C>T (p.Ala1208Val) rs914090288 0.00002
NM_000264.5(PTCH1):c.3631C>T (p.Pro1211Ser) rs139495263 0.00002
NM_000264.5(PTCH1):c.3642G>A (p.Thr1214=) rs143974523 0.00002
NM_000264.5(PTCH1):c.3649G>A (p.Gly1217Arg) rs768986314 0.00002
NM_000264.5(PTCH1):c.3686C>T (p.Thr1229Met) rs781080456 0.00002
NM_000264.5(PTCH1):c.3724G>A (p.Glu1242Lys) rs779417284 0.00002
NM_000264.5(PTCH1):c.3741G>A (p.Ala1247=) rs772544302 0.00002
NM_000264.5(PTCH1):c.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.388G>A (p.Val130Met) rs746339472 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.4030G>T (p.Ala1344Ser) rs765017975 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.4129G>A (p.Val1377Met) rs745337014 0.00002
NM_000264.5(PTCH1):c.4148C>T (p.Pro1383Leu) rs571030658 0.00002
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu) rs146447673 0.00002
NM_000264.5(PTCH1):c.4172G>A (p.Arg1391Gln) rs773676486 0.00002
NM_000264.5(PTCH1):c.4176C>T (p.Asn1392=) rs770479209 0.00002
NM_000264.5(PTCH1):c.4210A>G (p.Thr1404Ala) rs201873008 0.00002
NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu) rs766849993 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.4322C>T (p.Pro1441Leu) rs775192032 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.658A>G (p.Ile220Val) rs768776930 0.00002
NM_000264.5(PTCH1):c.724C>G (p.Gln242Glu) rs376353501 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.955A>G (p.Met319Val) rs1438545679 0.00002
NM_000264.5(PTCH1):c.1001A>G (p.Tyr334Cys) rs1841406856 0.00001
NM_000264.5(PTCH1):c.1020G>A (p.Glu340=) rs748171767 0.00001
NM_000264.5(PTCH1):c.1024A>C (p.Ile342Leu) rs1245184042 0.00001
NM_000264.5(PTCH1):c.1025T>C (p.Ile342Thr) rs1841403085 0.00001
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala) rs962982192 0.00001
NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg) rs1476325987 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.1099A>G (p.Met367Val) rs753152792 0.00001
NM_000264.5(PTCH1):c.1109A>G (p.Lys370Arg) rs768024586 0.00001
NM_000264.5(PTCH1):c.1110G>A (p.Lys370=) rs758977865 0.00001
NM_000264.5(PTCH1):c.1116G>T (p.Met372Ile) rs1841328115 0.00001
NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu) rs863224648 0.00001
NM_000264.5(PTCH1):c.1137C>T (p.Tyr379=) rs587780690 0.00001
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys) rs772903899 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.1193C>T (p.Ala398Val) rs375098989 0.00001
NM_000264.5(PTCH1):c.1200G>T (p.Gln400His) rs1277111019 0.00001
NM_000264.5(PTCH1):c.1206A>G (p.Thr402=) rs1234871751 0.00001
NM_000264.5(PTCH1):c.1216G>A (p.Val406Met) rs756949381 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.1246A>G (p.Thr416Ala) rs952195482 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.1274C>T (p.Thr425Met) rs768956985 0.00001
NM_000264.5(PTCH1):c.1284C>T (p.Asp428=) rs1164371538 0.00001
NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr) rs778455544 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.1345A>G (p.Met449Val) rs1423684260 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.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.1489G>A (p.Ala497Thr) rs1398130707 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.1625A>G (p.Lys542Arg) rs758673714 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.1642G>A (p.Val548Met) rs575035810 0.00001
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val) rs759078774 0.00001
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=) rs766039170 0.00001
NM_000264.5(PTCH1):c.1669A>G (p.Thr557Ala) rs772312984 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.182C>G (p.Ala61Gly) rs1296707371 0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000264.5(PTCH1):c.212C>T (p.Thr71Ile) rs529720410 0.00001
NM_000264.5(PTCH1):c.213T>C (p.Thr71=) rs1457697349 0.00001
NM_000264.5(PTCH1):c.216C>T (p.Gly72=) rs1383963652 0.00001
NM_000264.5(PTCH1):c.219G>A (p.Arg73=) rs944623019 0.00001
NM_000264.5(PTCH1):c.226C>T (p.Pro76Ser) rs997156828 0.00001
NM_000264.5(PTCH1):c.228G>A (p.Pro76=) rs140542305 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.2676C>G (p.Ser892Arg) rs1427672162 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.2695A>G (p.Ile899Val) rs765371196 0.00001
NM_000264.5(PTCH1):c.2699G>A (p.Ser900Asn) rs762152128 0.00001
NM_000264.5(PTCH1):c.2704-3T>C rs1208489068 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.2737A>G (p.Ile913Val) rs147643145 0.00001
NM_000264.5(PTCH1):c.2739C>A (p.Ile913=) rs1305314328 0.00001
NM_000264.5(PTCH1):c.2740A>G (p.Ile914Val) rs1441750517 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.2839G>C (p.Glu947Gln) rs768039033 0.00001
NM_000264.5(PTCH1):c.2851G>A (p.Asp951Asn) rs1588544328 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.2891C>T (p.Pro964Leu) rs377120922 0.00001
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser) rs758907408 0.00001
NM_000264.5(PTCH1):c.293G>A (p.Cys98Tyr) rs746435405 0.00001
NM_000264.5(PTCH1):c.2945G>A (p.Arg982Gln) rs145924695 0.00001
NM_000264.5(PTCH1):c.2954C>T (p.Ser985Leu) rs760297274 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.3032A>G (p.Asn1011Ser) rs780425276 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.3041C>T (p.Pro1014Leu) rs1404012576 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.3088C>G (p.Leu1030Val) rs1040729718 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.3156G>A (p.Thr1052=) rs549164233 0.00001
NM_000264.5(PTCH1):c.3169-5T>C rs367654039 0.00001
NM_000264.5(PTCH1):c.3180G>A (p.Leu1060=) rs757268536 0.00001
NM_000264.5(PTCH1):c.3188T>C (p.Met1063Thr) rs1260702127 0.00001
NM_000264.5(PTCH1):c.3211A>T (p.Met1071Leu) rs559317040 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.322A>G (p.Ile108Val) rs1338490449 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.3292G>A (p.Val1098Ile) rs748726158 0.00001
NM_000264.5(PTCH1):c.3293T>C (p.Val1098Ala) rs1291842090 0.00001
NM_000264.5(PTCH1):c.3295C>G (p.His1099Asp) rs1426410745 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.3327C>T (p.Gly1109=) rs779950790 0.00001
NM_000264.5(PTCH1):c.3331A>G (p.Lys1111Glu) rs1838665681 0.00001
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys) rs758520331 0.00001
NM_000264.5(PTCH1):c.3347T>A (p.Val1116Glu) rs863224653 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.3388G>A (p.Ala1130Thr) rs766037357 0.00001
NM_000264.5(PTCH1):c.342G>A (p.Val114=) rs766365142 0.00001
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val) rs369265532 0.00001
NM_000264.5(PTCH1):c.3443T>C (p.Ile1148Thr) rs1838650766 0.00001
NM_000264.5(PTCH1):c.3452A>G (p.Tyr1151Cys) rs1838317135 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.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.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.3592C>T (p.Pro1198Ser) rs1280830531 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.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.3664G>A (p.Asp1222Asn) rs747181820 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.3706G>A (p.Glu1236Lys) rs779844193 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.3743G>A (p.Gly1248Glu) rs375857496 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.3787G>A (p.Val1263Ile) rs752831580 0.00001
NM_000264.5(PTCH1):c.3804T>C (p.Thr1268=) rs951501624 0.00001
NM_000264.5(PTCH1):c.3827A>G (p.His1276Arg) rs1445693994 0.00001
NM_000264.5(PTCH1):c.3836C>T (p.Pro1279Leu) rs747128318 0.00001
NM_000264.5(PTCH1):c.3837C>T (p.Pro1279=) rs1263941339 0.00001
NM_000264.5(PTCH1):c.3841A>G (p.Asn1281Asp) rs1838051752 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.3886G>A (p.Gly1296Arg) rs372828014 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.3920C>G (p.Pro1307Arg) rs181585555 0.00001
NM_000264.5(PTCH1):c.3924A>G (p.Arg1308=) rs762725821 0.00001
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser) rs1057524645 0.00001
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser) rs574856671 0.00001
NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu) rs1400282737 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.3984A>C (p.Glu1328Asp) rs1394160194 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.4046C>T (p.Pro1349Leu) rs773298544 0.00001
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln) rs978722722 0.00001
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=) rs748440992 0.00001
NM_000264.5(PTCH1):c.4055C>G (p.Pro1352Arg) rs1022984391 0.00001
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val) rs777096311 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.4114A>G (p.Thr1372Ala) rs1837997051 0.00001
NM_000264.5(PTCH1):c.4115C>T (p.Thr1372Met) rs765348942 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.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.4160C>T (p.Pro1387Leu) rs552921967 0.00001
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg) rs587778631 0.00001
NM_000264.5(PTCH1):c.4167T>A (p.Pro1389=) rs531218594 0.00001
NM_000264.5(PTCH1):c.4170G>A (p.Gly1390=) rs201118928 0.00001
NM_000264.5(PTCH1):c.4180C>T (p.Arg1394Ter) rs1297685477 0.00001
NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg) rs375626922 0.00001
NM_000264.5(PTCH1):c.4187G>A (p.Gly1396Glu) rs747923595 0.00001
NM_000264.5(PTCH1):c.4195C>T (p.Pro1399Ser) rs1275384199 0.00001
NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp) rs786204094 0.00001
NM_000264.5(PTCH1):c.4239C>T (p.His1413=) rs375040845 0.00001
NM_000264.5(PTCH1):c.4249C>A (p.His1417Asn) rs776235476 0.00001
NM_000264.5(PTCH1):c.4267A>C (p.Arg1423=) rs1588509691 0.00001
NM_000264.5(PTCH1):c.4288A>G (p.Ile1430Val) rs1043260017 0.00001
NM_000264.5(PTCH1):c.4289T>C (p.Ile1430Thr) rs556722778 0.00001
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met) rs587778632 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.4320G>T (p.Arg1440Ser) rs1837952286 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.451G>T (p.Ala151Ser) rs751024812 0.00001
NM_000264.5(PTCH1):c.463C>T (p.Pro155Ser) rs369105527 0.00001
NM_000264.5(PTCH1):c.485C>G (p.Pro162Arg) rs770046324 0.00001
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp) rs587780707 0.00001
NM_000264.5(PTCH1):c.514A>G (p.Thr172Ala) rs1244945859 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.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.594A>G (p.Lys198=) rs1341335793 0.00001
NM_000264.5(PTCH1):c.637A>G (p.Thr213Ala) rs1588614533 0.00001
NM_000264.5(PTCH1):c.646A>G (p.Met216Val) rs587780709 0.00001
NM_000264.5(PTCH1):c.649G>A (p.Asp217Asn) rs780378700 0.00001
NM_000264.5(PTCH1):c.655A>G (p.Ile219Val) rs1841580631 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.728C>T (p.Ser243Phe) rs141265422 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.778G>A (p.Asp260Asn) rs765174527 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.847A>T (p.Asn283Tyr) rs1588610162 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.907G>C (p.Asp303His) rs1172719429 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.949C>G (p.Leu317Val) rs1380199153 0.00001
NM_000264.5(PTCH1):c.956T>C (p.Met319Thr) rs867609005 0.00001
NM_000264.5(PTCH1):c.969G>A (p.Leu323=) rs771618979 0.00001
NC_000009.12:g.95482199_95482204del
NM_000264.3(PTCH1):c.3450delG rs1131691001
NM_000264.5(PTCH1):c.1001_1010del (p.Tyr334fs) rs1554699612
NM_000264.5(PTCH1):c.1005G>T (p.Met335Ile)
NM_000264.5(PTCH1):c.1008C>G (p.His336Gln) rs1841405475
NM_000264.5(PTCH1):c.1008C>T (p.His336=) rs1841405475
NM_000264.5(PTCH1):c.1013A>G (p.Gln338Arg)
NM_000264.5(PTCH1):c.1017G>A (p.Glu339=)
NM_000264.5(PTCH1):c.1022T>A (p.Leu341Ter) rs1131690970
NM_000264.5(PTCH1):c.1034G>A (p.Gly345Asp)
NM_000264.5(PTCH1):c.1041C>G (p.Val347=) rs1588608374
NM_000264.5(PTCH1):c.1044G>T (p.Lys348Asn)
NM_000264.5(PTCH1):c.1045A>G (p.Asn349Asp) rs1588608348
NM_000264.5(PTCH1):c.1046A>G (p.Asn349Ser)
NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser)
NM_000264.5(PTCH1):c.1054G>A (p.Gly352Arg)
NM_000264.5(PTCH1):c.1060C>A (p.Leu354Ile) rs1588608286
NM_000264.5(PTCH1):c.1062C>T (p.Leu354=) rs1554699558
NM_000264.5(PTCH1):c.1063G>C (p.Val355Leu)
NM_000264.5(PTCH1):c.1065C>G (p.Val355=) rs2118387266
NM_000264.5(PTCH1):c.1067+5G>T rs372657547
NM_000264.5(PTCH1):c.1068-1G>T rs1085307752
NM_000264.5(PTCH1):c.1071C>G (p.Ala357=) rs1588606079
NM_000264.5(PTCH1):c.1072C>T (p.His358Tyr)
NM_000264.5(PTCH1):c.1073A>G (p.His358Arg)
NM_000264.5(PTCH1):c.1077C>G (p.Ala359=)
NM_000264.5(PTCH1):c.1087A>G (p.Met363Val) rs1342698215
NM_000264.5(PTCH1):c.1088T>C (p.Met363Thr)
NM_000264.5(PTCH1):c.1089G>A (p.Met363Ile) rs1841330687
NM_000264.5(PTCH1):c.1107C>T (p.Pro369=)
NM_000264.5(PTCH1):c.1119del (p.Met372_Tyr373insTer) rs1131691002
NM_000264.5(PTCH1):c.1124A>T (p.His375Leu)
NM_000264.5(PTCH1):c.1129A>G (p.Lys377Glu) rs1588605721
NM_000264.5(PTCH1):c.1131G>T (p.Lys377Asn)
NM_000264.5(PTCH1):c.1132G>A (p.Gly378Arg)
NM_000264.5(PTCH1):c.1133G>A (p.Gly378Glu) rs1463870316
NM_000264.5(PTCH1):c.1135T>C (p.Tyr379His) rs1554699212
NM_000264.5(PTCH1):c.1143T>C (p.Tyr381=)
NM_000264.5(PTCH1):c.1146C>G (p.Val382=)
NM_000264.5(PTCH1):c.1152C>A (p.His384Gln) rs200246772
NM_000264.5(PTCH1):c.1152C>T (p.His384=) rs200246772
NM_000264.5(PTCH1):c.1157A>G (p.Asn386Ser) rs1564053157
NM_000264.5(PTCH1):c.1162A>C (p.Asn388His)
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys) rs1841320331
NM_000264.5(PTCH1):c.1168G>T (p.Asp390Tyr) rs1588605451
NM_000264.5(PTCH1):c.1181C>T (p.Ala394Val) rs2118364801
NM_000264.5(PTCH1):c.1185C>T (p.Ile395=)
NM_000264.5(PTCH1):c.1186C>G (p.Leu396Val) rs371424684
NM_000264.5(PTCH1):c.1208A>G (p.Tyr403Cys) rs1588605278
NM_000264.5(PTCH1):c.1209T>C (p.Tyr403=)
NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter) rs1432645175
NM_000264.5(PTCH1):c.1211T>C (p.Val404Ala)
NM_000264.5(PTCH1):c.1215+4A>T
NM_000264.5(PTCH1):c.1216-1G>A rs1564051834
NM_000264.5(PTCH1):c.1219G>T (p.Val407Phe)
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del) rs1489690325
NM_000264.5(PTCH1):c.1229G>A (p.Ser410Asn)
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.1244C>G (p.Ser415Cys) rs1588602943
NM_000264.5(PTCH1):c.1245C>T (p.Ser415=)
NM_000264.5(PTCH1):c.1247C>T (p.Thr416Ile) rs201174718
NM_000264.5(PTCH1):c.1250A>G (p.Gln417Arg) rs1060502270
NM_000264.5(PTCH1):c.1250A>T (p.Gln417Leu)
NM_000264.5(PTCH1):c.1251A>G (p.Gln417=) rs2118337388
NM_000264.5(PTCH1):c.1255G>A (p.Val419Met)
NM_000264.5(PTCH1):c.1256T>G (p.Val419Gly)
NM_000264.5(PTCH1):c.1257G>A (p.Val419=) rs1060504535
NM_000264.5(PTCH1):c.1260T>G (p.Leu420=)
NM_000264.5(PTCH1):c.1262C>T (p.Ser421Phe) rs1285775586
NM_000264.5(PTCH1):c.1266C>T (p.Phe422=)
NM_000264.5(PTCH1):c.1269C>T (p.Thr423=) rs998906518
NM_000264.5(PTCH1):c.1270A>G (p.Thr424Ala)
NM_000264.5(PTCH1):c.1273A>G (p.Thr425Ala)
NM_000264.5(PTCH1):c.1275G>C (p.Thr425=) rs150837425
NM_000264.5(PTCH1):c.1276A>T (p.Thr426Ser)
NM_000264.5(PTCH1):c.1279C>T (p.Leu427=)
NM_000264.5(PTCH1):c.1283A>G (p.Asp428Gly) rs1554698835
NM_000264.5(PTCH1):c.1284C>A (p.Asp428Glu)
NM_000264.5(PTCH1):c.1285G>A (p.Asp429Asn) rs377546733
NM_000264.5(PTCH1):c.1288A>G (p.Ile430Val)
NM_000264.5(PTCH1):c.1290C>T (p.Ile430=)
NM_000264.5(PTCH1):c.1295A>C (p.Lys432Thr) rs1841223979
NM_000264.5(PTCH1):c.1298C>T (p.Ser433Phe)
NM_000264.5(PTCH1):c.1299C>T (p.Ser433=)
NM_000264.5(PTCH1):c.1301_1303del (p.Phe434del)
NM_000264.5(PTCH1):c.1302C>A (p.Phe434Leu)
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.1309G>A (p.Val437Ile) rs1293146883
NM_000264.5(PTCH1):c.1312A>G (p.Ser438Gly) rs2118331535
NM_000264.5(PTCH1):c.1313G>A (p.Ser438Asn)
NM_000264.5(PTCH1):c.1314T>C (p.Ser438=)
NM_000264.5(PTCH1):c.1315G>A (p.Val439Ile)
NM_000264.5(PTCH1):c.1321C>T (p.Arg441Cys)
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.1333G>A (p.Gly445Ser) rs2118329828
NM_000264.5(PTCH1):c.1334del (p.Gly445fs) rs1131690978
NM_000264.5(PTCH1):c.1337A>G (p.Tyr446Cys) rs2118329512
NM_000264.5(PTCH1):c.1341dup (p.Leu448fs) rs1588602354
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val) rs537871675
NM_000264.5(PTCH1):c.1344C>T (p.Leu448=)
NM_000264.5(PTCH1):c.1347+6G>A rs372655486
NM_000264.5(PTCH1):c.1348-1G>T
NM_000264.5(PTCH1):c.1350C>G (p.Leu450=) rs369109033
NM_000264.5(PTCH1):c.1350del (p.Ala451fs) rs1588601051
NM_000264.5(PTCH1):c.1354T>A (p.Tyr452Asn)
NM_000264.5(PTCH1):c.1355A>G (p.Tyr452Cys) rs1255345516
NM_000264.5(PTCH1):c.1355del (p.Tyr452fs)
NM_000264.5(PTCH1):c.1356T>C (p.Tyr452=) rs2118311917
NM_000264.5(PTCH1):c.1361G>A (p.Cys454Tyr)
NM_000264.5(PTCH1):c.1363C>T (p.Leu455=)
NM_000264.5(PTCH1):c.1365A>G (p.Leu455=) rs746805188
NM_000264.5(PTCH1):c.1367C>G (p.Thr456Ser)
NM_000264.5(PTCH1):c.1370T>A (p.Met457Lys)
NM_000264.5(PTCH1):c.1374G>A (p.Leu458=)
NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)
NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter) rs1131690974
NM_000264.5(PTCH1):c.1384T>A (p.Cys462Ser) rs1588600865
NM_000264.5(PTCH1):c.1388C>T (p.Ser463Phe)
NM_000264.5(PTCH1):c.1393T>C (p.Ser465Pro)
NM_000264.5(PTCH1):c.1395C>G (p.Ser465=)
NM_000264.5(PTCH1):c.1395C>T (p.Ser465=)
NM_000264.5(PTCH1):c.1397A>G (p.Gln466Arg)
NM_000264.5(PTCH1):c.1399G>A (p.Gly467Ser)
NM_000264.5(PTCH1):c.1402G>A (p.Ala468Thr)
NM_000264.5(PTCH1):c.1405G>A (p.Val469Met) rs1438523462
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
NM_000264.5(PTCH1):c.1413G>T (p.Leu471=)
NM_000264.5(PTCH1):c.1414G>T (p.Ala472Ser) rs899465701
NM_000264.5(PTCH1):c.1419C>G (p.Gly473=) rs774841100
NM_000264.5(PTCH1):c.1423C>T (p.Leu475=)
NM_000264.5(PTCH1):c.1425G>A (p.Leu475=)
NM_000264.5(PTCH1):c.1425G>T (p.Leu475=)
NM_000264.5(PTCH1):c.1435C>T (p.Leu479=) rs1298358252
NM_000264.5(PTCH1):c.1437G>A (p.Leu479=) rs1588600596
NM_000264.5(PTCH1):c.1437G>C (p.Leu479=)
NM_000264.5(PTCH1):c.1451G>C (p.Gly484Ala)
NM_000264.5(PTCH1):c.1453C>T (p.Leu485=)
NM_000264.5(PTCH1):c.1455G>A (p.Leu485=) rs2118305061
NM_000264.5(PTCH1):c.1459C>T (p.Leu487=) rs1588600570
NM_000264.5(PTCH1):c.1461G>T (p.Leu487=)
NM_000264.5(PTCH1):c.1462T>C (p.Cys488Arg) rs1131690999
NM_000264.5(PTCH1):c.1468T>C (p.Leu490=)
NM_000264.5(PTCH1):c.1473C>G (p.Ile491Met) rs768183391
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala) rs1057515719
NM_000264.5(PTCH1):c.1481C>G (p.Ser494Cys)
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=) rs1060504538
NM_000264.5(PTCH1):c.1493C>T (p.Ala498Val)
NM_000264.5(PTCH1):c.1503+2T>A
NM_000264.5(PTCH1):c.1504-2A>C rs1131690984
NM_000264.5(PTCH1):c.1511C>T (p.Pro504Leu)
NM_000264.5(PTCH1):c.1512A>G (p.Pro504=)
NM_000264.5(PTCH1):c.1518C>T (p.Leu506=) rs1374700325
NM_000264.5(PTCH1):c.1524T>C (p.Leu508=) rs778837458
NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp) rs1060502268
NM_000264.5(PTCH1):c.1534G>A (p.Val512Met)
NM_000264.5(PTCH1):c.1543G>A (p.Val515Ile) rs2118283531
NM_000264.5(PTCH1):c.1544T>C (p.Val515Ala)
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val) rs1554698288
NM_000264.5(PTCH1):c.1549C>T (p.Leu517Phe) rs2118283054
NM_000264.5(PTCH1):c.1554G>A (p.Leu518=) rs1841075494
NM_000264.5(PTCH1):c.1555G>T (p.Ala519Ser)
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr) rs781101191
NM_000264.5(PTCH1):c.1562C>T (p.Ala521Val) rs755139183
NM_000264.5(PTCH1):c.1567A>G (p.Ser523Gly) rs2118281828
NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr) rs751778283
NM_000264.5(PTCH1):c.1575A>G (p.Thr525=)
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter) rs1554698260
NM_000264.5(PTCH1):c.1582A>C (p.Asn528His)
NM_000264.5(PTCH1):c.1584T>A (p.Asn528Lys)
NM_000264.5(PTCH1):c.1584T>C (p.Asn528=) rs2118280594
NM_000264.5(PTCH1):c.1585A>G (p.Lys529Glu) rs780434261
NM_000264.5(PTCH1):c.1592T>C (p.Ile531Thr) rs1227526379
NM_000264.5(PTCH1):c.1594C>T (p.Pro532Ser)
NM_000264.5(PTCH1):c.1597T>G (p.Phe533Val)
NM_000264.5(PTCH1):c.1598T>C (p.Phe533Ser) rs1318015818
NM_000264.5(PTCH1):c.1598T>G (p.Phe533Cys) rs1318015818
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.1602+5T>C
NM_000264.5(PTCH1):c.1603-2A>C rs1064793921
NM_000264.5(PTCH1):c.1603-3C>A
NM_000264.5(PTCH1):c.1603-5C>T rs1588596863
NM_000264.5(PTCH1):c.1611C>T (p.Thr537=) rs780344685
NM_000264.5(PTCH1):c.1617G>C (p.Glu539Asp)
NM_000264.5(PTCH1):c.161G>C (p.Ser54Thr)
NM_000264.5(PTCH1):c.1620C>T (p.Cys540=) rs1841017295
NM_000264.5(PTCH1):c.1627C>G (p.Arg543Gly)
NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys) rs137903539
NM_000264.5(PTCH1):c.1632A>G (p.Thr544=)
NM_000264.5(PTCH1):c.164A>C (p.Tyr55Ser)
NM_000264.5(PTCH1):c.1652C>T (p.Thr551Met) rs863224649
NM_000264.5(PTCH1):c.1653G>T (p.Thr551=)
NM_000264.5(PTCH1):c.1656C>T (p.Ser552=)
NM_000264.5(PTCH1):c.1657A>G (p.Ile553Val)
NM_000264.5(PTCH1):c.1660A>T (p.Ser554Cys) rs1060502282
NM_000264.5(PTCH1):c.1662C>T (p.Ser554=)
NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile) rs1318405179
NM_000264.5(PTCH1):c.166T>A (p.Cys56Ser)
NM_000264.5(PTCH1):c.1672G>A (p.Ala558Thr) rs2118253278
NM_000264.5(PTCH1):c.1678T>A (p.Phe560Ile)
NM_000264.5(PTCH1):c.167G>A (p.Cys56Tyr)
NM_000264.5(PTCH1):c.1680C>T (p.Phe560=)
NM_000264.5(PTCH1):c.1681A>G (p.Met561Val) rs1332335605
NM_000264.5(PTCH1):c.1681A>T (p.Met561Leu)
NM_000264.5(PTCH1):c.1686C>G (p.Ala562=) rs2066836
NM_000264.5(PTCH1):c.1687G>A (p.Ala563Thr) rs146616780
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.1693A>G (p.Ile565Val) rs778170244
NM_000264.5(PTCH1):c.1694_1697del (p.Ile565fs)
NM_000264.5(PTCH1):c.1698A>C (p.Pro566=) rs2118250352
NM_000264.5(PTCH1):c.1699A>G (p.Ile567Val) rs200504753
NM_000264.5(PTCH1):c.1705G>A (p.Ala569Thr) rs753240797
NM_000264.5(PTCH1):c.1708C>T (p.Leu570=)
NM_000264.5(PTCH1):c.1710G>C (p.Leu570=) rs374924167
NM_000264.5(PTCH1):c.1713G>A (p.Arg571=) rs762575636
NM_000264.5(PTCH1):c.1715C>T (p.Ala572Val) rs1485556285
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.1721C>T (p.Ser574Phe) rs1841002219
NM_000264.5(PTCH1):c.1722C>T (p.Ser574=)
NM_000264.5(PTCH1):c.1728+3G>C rs1588596061
NM_000264.5(PTCH1):c.1728+5G>A
NM_000264.5(PTCH1):c.175G>A (p.Ala59Thr) rs147738224
NM_000264.5(PTCH1):c.175G>T (p.Ala59Ser)
NM_000264.5(PTCH1):c.176C>T (p.Ala59Val)
NM_000264.5(PTCH1):c.180C>T (p.Phe60=)
NM_000264.5(PTCH1):c.181G>T (p.Ala61Ser)
NM_000264.5(PTCH1):c.184C>T (p.Leu62=)
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter) rs781768965
NM_000264.5(PTCH1):c.189G>A (p.Glu63=)
NM_000264.5(PTCH1):c.189G>T (p.Glu63Asp) rs1587700210
NM_000264.5(PTCH1):c.190C>G (p.Gln64Glu)
NM_000264.5(PTCH1):c.190_192del (p.Gln64del)
NM_000264.5(PTCH1):c.192G>C (p.Gln64His) rs1843885224
NM_000264.5(PTCH1):c.192G>T (p.Gln64His)
NM_000264.5(PTCH1):c.193A>G (p.Ile65Val)
NM_000264.5(PTCH1):c.197C>T (p.Ser66Phe)
NM_000264.5(PTCH1):c.198C>A (p.Ser66=)
NM_000264.5(PTCH1):c.198C>T (p.Ser66=) rs1355794957
NM_000264.5(PTCH1):c.199A>G (p.Lys67Glu)
NM_000264.5(PTCH1):c.201+1G>A rs1131690967
NM_000264.5(PTCH1):c.201+5A>G rs1843883183
NM_000264.5(PTCH1):c.202-2A>C rs878853849
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000264.5(PTCH1):c.204G>A (p.Gly68=) rs547930654
NM_000264.5(PTCH1):c.204G>T (p.Gly68=) rs547930654
NM_000264.5(PTCH1):c.207G>A (p.Lys69=) rs1320211956
NM_000264.5(PTCH1):c.207G>C (p.Lys69Asn)
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val) rs764137082
NM_000264.5(PTCH1):c.210T>C (p.Ala70=)
NM_000264.5(PTCH1):c.211A>G (p.Thr71Ala)
NM_000264.5(PTCH1):c.214G>A (p.Gly72Ser)
NM_000264.5(PTCH1):c.215G>T (p.Gly72Val)
NM_000264.5(PTCH1):c.216C>G (p.Gly72=) rs1383963652
NM_000264.5(PTCH1):c.218G>C (p.Arg73Pro)
NM_000264.5(PTCH1):c.219G>T (p.Arg73=)
NM_000264.5(PTCH1):c.222A>C (p.Lys74Asn)
NM_000264.5(PTCH1):c.226C>A (p.Pro76Thr) rs997156828
NM_000264.5(PTCH1):c.228G>T (p.Pro76=)
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter) rs1554708787
NM_000264.5(PTCH1):c.235C>T (p.Leu79=)
NM_000264.5(PTCH1):c.238A>C (p.Arg80=)
NM_000264.5(PTCH1):c.239G>C (p.Arg80Thr)
NM_000264.5(PTCH1):c.240A>C (p.Arg80Ser)
NM_000264.5(PTCH1):c.241G>A (p.Ala81Thr) rs2118880380
NM_000264.5(PTCH1):c.241G>C (p.Ala81Pro)
NM_000264.5(PTCH1):c.244A>G (p.Lys82Glu)
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>G (p.Arg85Gly) rs1554708772
NM_000264.5(PTCH1):c.2561-5T>C
NM_000264.5(PTCH1):c.2561G>A (p.Gly854Glu)
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=) rs751613059
NM_000264.5(PTCH1):c.256C>T (p.Leu86Phe)
NM_000264.5(PTCH1):c.2570A>C (p.Asp857Ala)
NM_000264.5(PTCH1):c.2570A>T (p.Asp857Val)
NM_000264.5(PTCH1):c.2572G>T (p.Ala858Ser) rs1703756604
NM_000264.5(PTCH1):c.2574A>C (p.Ala858=)
NM_000264.5(PTCH1):c.2574A>G (p.Ala858=)
NM_000264.5(PTCH1):c.2581A>G (p.Ser861Gly)
NM_000264.5(PTCH1):c.2582G>A (p.Ser861Asn) rs2136689511
NM_000264.5(PTCH1):c.2585dup (p.Asp862fs)
NM_000264.5(PTCH1):c.2589G>C (p.Trp863Cys)
NM_000264.5(PTCH1):c.2589G>T (p.Trp863Cys) rs1277861627
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs) rs864622212
NM_000264.5(PTCH1):c.2592A>G (p.Glu864=) rs1839515955
NM_000264.5(PTCH1):c.2595C>A (p.Thr865=)
NM_000264.5(PTCH1):c.2597G>A (p.Gly866Glu) rs863224651
NM_000264.5(PTCH1):c.2598G>A (p.Gly866=) rs2136689118
NM_000264.5(PTCH1):c.2598del (p.Ile868fs) rs1131690975
NM_000264.5(PTCH1):c.259T>C (p.Leu87=)
NM_000264.5(PTCH1):c.2601A>G (p.Lys867=) rs568888639
NM_000264.5(PTCH1):c.2606T>A (p.Met869Lys) rs1345518847
NM_000264.5(PTCH1):c.2607G>A (p.Met869Ile) rs2136688957
NM_000264.5(PTCH1):c.2611A>G (p.Asn871Asp)
NM_000264.5(PTCH1):c.2613C>T (p.Asn871=)
NM_000264.5(PTCH1):c.2617T>C (p.Tyr873His) rs2136688723
NM_000264.5(PTCH1):c.2625T>C (p.Asn875=) rs1389183150
NM_000264.5(PTCH1):c.262T>C (p.Phe88Leu)
NM_000264.5(PTCH1):c.262_265del (p.Phe88fs) rs2118879343
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.263T>A (p.Phe88Tyr)
NM_000264.5(PTCH1):c.2643C>G (p.Val881=) rs1588551617
NM_000264.5(PTCH1):c.2654A>G (p.Lys885Arg)
NM_000264.5(PTCH1):c.2654A>T (p.Lys885Ile) rs1272128871
NM_000264.5(PTCH1):c.2658C>G (p.Leu886=)
NM_000264.5(PTCH1):c.2662G>A (p.Val888Met)
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu) rs1839507201
NM_000264.5(PTCH1):c.2667A>G (p.Gln889=) rs777777450
NM_000264.5(PTCH1):c.266A>G (p.Lys89Arg) rs1843661629
NM_000264.5(PTCH1):c.2673C>T (p.Gly891=)
NM_000264.5(PTCH1):c.2679C>A (p.Arg893=)
NM_000264.5(PTCH1):c.267A>C (p.Lys89Asn)
NM_000264.5(PTCH1):c.2691C>G (p.Ile897Met) rs1055193050
NM_000264.5(PTCH1):c.2691C>T (p.Ile897=) rs1055193050
NM_000264.5(PTCH1):c.2697C>G (p.Ile899Met) rs1588551373
NM_000264.5(PTCH1):c.2704-2A>G
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.2707A>G (p.Thr903Ala)
NM_000264.5(PTCH1):c.2707A>T (p.Thr903Ser)
NM_000264.5(PTCH1):c.270G>A (p.Leu90=)
NM_000264.5(PTCH1):c.270_271delinsAA (p.Gly91Ser)
NM_000264.5(PTCH1):c.2716C>G (p.Arg906Gly) rs1588545099
NM_000264.5(PTCH1):c.2716C>T (p.Arg906Cys) rs1588545099
NM_000264.5(PTCH1):c.271G>A (p.Gly91Ser)
NM_000264.5(PTCH1):c.271G>C (p.Gly91Arg)
NM_000264.5(PTCH1):c.2724G>T (p.Val908=) rs1564021832
NM_000264.5(PTCH1):c.2731G>T (p.Asp911Tyr)
NM_000264.5(PTCH1):c.2732A>G (p.Asp911Gly)
NM_000264.5(PTCH1):c.2733T>A (p.Asp911Glu) rs1839296987
NM_000264.5(PTCH1):c.2736C>A (p.Gly912=)
NM_000264.5(PTCH1):c.2738T>C (p.Ile913Thr)
NM_000264.5(PTCH1):c.2739C>T (p.Ile913=)
NM_000264.5(PTCH1):c.273T>A (p.Gly91=)
NM_000264.5(PTCH1):c.273T>C (p.Gly91=)
NM_000264.5(PTCH1):c.2746C>T (p.Pro916Ser)
NM_000264.5(PTCH1):c.2750G>T (p.Ser917Ile) rs1588544954
NM_000264.5(PTCH1):c.2752G>A (p.Ala918Thr) rs2136672620
NM_000264.5(PTCH1):c.2754T>C (p.Ala918=) rs1588544935
NM_000264.5(PTCH1):c.2757C>A (p.Phe919Leu)
NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)
NM_000264.5(PTCH1):c.275G>T (p.Cys92Phe)
NM_000264.5(PTCH1):c.2762_2765dup (p.Thr924fs) rs1131690972
NM_000264.5(PTCH1):c.2763C>A (p.Ile921=)
NM_000264.5(PTCH1):c.2763C>G (p.Ile921Met) rs1564021738
NM_000264.5(PTCH1):c.2767C>G (p.Leu923Val)
NM_000264.5(PTCH1):c.2772G>A (p.Thr924=) rs1554691694
NM_000264.5(PTCH1):c.2772G>T (p.Thr924=) rs1554691694
NM_000264.5(PTCH1):c.2774C>T (p.Ala925Val)
NM_000264.5(PTCH1):c.2779G>A (p.Val927Ile) rs1554691693
NM_000264.5(PTCH1):c.277T>C (p.Tyr93His)
NM_000264.5(PTCH1):c.2783G>C (p.Ser928Thr) rs1554691690
NM_000264.5(PTCH1):c.2789_2796delinsG (p.Asp930fs)
NM_000264.5(PTCH1):c.2790C>A (p.Asp930Glu)
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu) rs1839290937
NM_000264.5(PTCH1):c.2794del (p.Val932fs) rs1131690997
NM_000264.5(PTCH1):c.2796C>T (p.Val932=)
NM_000264.5(PTCH1):c.2798C>T (p.Ala933Val) rs768558478
NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer) rs1554708753
NM_000264.5(PTCH1):c.2801A>G (p.Tyr934Cys)
NM_000264.5(PTCH1):c.2801A>T (p.Tyr934Phe) rs1209943415
NM_000264.5(PTCH1):c.2802T>C (p.Tyr934=)
NM_000264.5(PTCH1):c.2803G>C (p.Ala935Pro) rs1554691676
NM_000264.5(PTCH1):c.2806G>T (p.Ala936Ser) rs1588544538
NM_000264.5(PTCH1):c.2808C>T (p.Ala936=) rs1393599414
NM_000264.5(PTCH1):c.280A>G (p.Ile94Val) rs1843660253
NM_000264.5(PTCH1):c.281T>G (p.Ile94Ser) rs1587693521
NM_000264.5(PTCH1):c.2822T>A (p.Ile941Asn)
NM_000264.5(PTCH1):c.2822del (p.Ile941fs)
NM_000264.5(PTCH1):c.2823C>G (p.Ile941Met) rs1839283096
NM_000264.5(PTCH1):c.2824C>A (p.Arg942=)
NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln) rs767225445
NM_000264.5(PTCH1):c.2825G>C (p.Arg942Pro) rs767225445
NM_000264.5(PTCH1):c.2826G>A (p.Arg942=) rs934070764
NM_000264.5(PTCH1):c.2827C>A (p.Pro943Thr)
NM_000264.5(PTCH1):c.2829A>G (p.Pro943=) rs150739122
NM_000264.5(PTCH1):c.2830C>G (p.His944Asp)
NM_000264.5(PTCH1):c.2830C>T (p.His944Tyr) rs1588544426
NM_000264.5(PTCH1):c.2833C>G (p.Arg945Gly)
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.2834G>C (p.Arg945Pro)
NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter) rs1587693508
NM_000264.5(PTCH1):c.2851G>T (p.Asp951Tyr) rs1588544328
NM_000264.5(PTCH1):c.2853C>T (p.Asp951=)
NM_000264.5(PTCH1):c.2854A>G (p.Lys952Glu)
NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe) rs1839276876
NM_000264.5(PTCH1):c.2867T>C (p.Met956Thr)
NM_000264.5(PTCH1):c.2868G>A (p.Met956Ile) rs761501958
NM_000264.5(PTCH1):c.2869C>T (p.Pro957Ser) rs1839275609
NM_000264.5(PTCH1):c.2870C>G (p.Pro957Arg) rs1376533047
NM_000264.5(PTCH1):c.2872del (p.Glu958fs)
NM_000264.5(PTCH1):c.2879G>C (p.Arg960Thr)
NM_000264.5(PTCH1):c.2882T>C (p.Leu961Pro) rs1588544210
NM_000264.5(PTCH1):c.2887+2T>C rs1839273008
NM_000264.5(PTCH1):c.2887+4A>C rs1588544193
NM_000264.5(PTCH1):c.2887+4A>G rs1588544193
NM_000264.5(PTCH1):c.2887+5G>A
NM_000264.5(PTCH1):c.2888-3C>G
NM_000264.5(PTCH1):c.2888-5T>A
NM_000264.5(PTCH1):c.2903C>T (p.Pro968Leu)
NM_000264.5(PTCH1):c.2904C>G (p.Pro968=) rs1554691433
NM_000264.5(PTCH1):c.2905A>G (p.Ile969Val)
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.291C>A (p.Asn97Lys)
NM_000264.5(PTCH1):c.291C>T (p.Asn97=)
NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu)
NM_000264.5(PTCH1):c.2925T>C (p.Pro975=) rs2136662510
NM_000264.5(PTCH1):c.2928C>G (p.Phe976Leu) rs1588540820
NM_000264.5(PTCH1):c.2929del (p.Tyr977fs)
NM_000264.5(PTCH1):c.2931C>T (p.Tyr977=) rs1588540806
NM_000264.5(PTCH1):c.2933T>C (p.Leu978Pro) rs863224652
NM_000264.5(PTCH1):c.2934C>A (p.Leu978=) rs1588540781
NM_000264.5(PTCH1):c.2935A>C (p.Asn979His) rs1588540767
NM_000264.5(PTCH1):c.2942T>C (p.Leu981Ser)
NM_000264.5(PTCH1):c.2943G>A (p.Leu981=)
NM_000264.5(PTCH1):c.2944C>G (p.Arg982Gly) rs867973996
NM_000264.5(PTCH1):c.2944C>T (p.Arg982Trp)
NM_000264.5(PTCH1):c.2948A>T (p.Asp983Val)
NM_000264.5(PTCH1):c.2949C>T (p.Asp983=) rs1204950098
NM_000264.5(PTCH1):c.294C>A (p.Cys98Ter) rs1131690968
NM_000264.5(PTCH1):c.2961T>C (p.Phe987=) rs2136662098
NM_000264.5(PTCH1):c.2968G>A (p.Ala990Thr)
NM_000264.5(PTCH1):c.296G>T (p.Gly99Val) rs753884837
NM_000264.5(PTCH1):c.2971A>G (p.Ile991Val) rs1189382722
NM_000264.5(PTCH1):c.297C>T (p.Gly99=) rs772407797
NM_000264.5(PTCH1):c.2982A>T (p.Val994=) rs1588540533
NM_000264.5(PTCH1):c.2987C>T (p.Thr996Ile)
NM_000264.5(PTCH1):c.2990T>C (p.Ile997Thr)
NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)
NM_000264.5(PTCH1):c.3003T>C (p.Tyr1001=) rs1060502298
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val) rs864622620
NM_000264.5(PTCH1):c.3013G>A (p.Gly1005Arg)
NM_000264.5(PTCH1):c.3015G>A (p.Gly1005=)
NM_000264.5(PTCH1):c.3016C>A (p.Leu1006Met)
NM_000264.5(PTCH1):c.3018G>A (p.Leu1006=) rs863224350
NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter) rs747234651
NM_000264.5(PTCH1):c.3033C>A (p.Asn1011Lys)
NM_000264.5(PTCH1):c.3033C>G (p.Asn1011Lys)
NM_000264.5(PTCH1):c.3036C>T (p.Gly1012=)
NM_000264.5(PTCH1):c.303C>T (p.Phe101=) rs1425771551
NM_000264.5(PTCH1):c.3040C>T (p.Pro1014Ser) rs1588540255
NM_000264.5(PTCH1):c.3042C>T (p.Pro1014=) rs757821035
NM_000264.5(PTCH1):c.3043T>A (p.Phe1015Ile)
NM_000264.5(PTCH1):c.3045C>T (p.Phe1015=) rs1404182043
NM_000264.5(PTCH1):c.3046C>T (p.Leu1016Phe) rs374575067
NM_000264.5(PTCH1):c.3048C>G (p.Leu1016=) rs1165046037
NM_000264.5(PTCH1):c.3064A>C (p.Ile1022Leu) rs1003711941
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val) rs1003711941
NM_000264.5(PTCH1):c.3068G>C (p.Gly1023Ala) rs1588540060
NM_000264.5(PTCH1):c.3069C>G (p.Gly1023=) rs767289081
NM_000264.5(PTCH1):c.306G>C (p.Leu102Phe) rs199522392
NM_000264.5(PTCH1):c.3070C>T (p.Leu1024Phe)
NM_000264.5(PTCH1):c.3072C>T (p.Leu1024=) rs1588539992
NM_000264.5(PTCH1):c.3075C>G (p.Arg1025=)
NM_000264.5(PTCH1):c.3078C>T (p.His1026=)
NM_000264.5(PTCH1):c.3083T>A (p.Leu1028Gln)
NM_000264.5(PTCH1):c.3091T>G (p.Phe1031Val)
NM_000264.5(PTCH1):c.3098G>C (p.Ser1033Thr) rs1588539911
NM_000264.5(PTCH1):c.3099C>G (p.Ser1033Arg)
NM_000264.5(PTCH1):c.3100G>T (p.Val1034Leu)
NM_000264.5(PTCH1):c.3102G>C (p.Val1034=)
NM_000264.5(PTCH1):c.3103G>C (p.Val1035Leu)
NM_000264.5(PTCH1):c.3104T>G (p.Val1035Gly)
NM_000264.5(PTCH1):c.3105G>A (p.Val1035=) rs2136660293
NM_000264.5(PTCH1):c.3105G>T (p.Val1035=)
NM_000264.5(PTCH1):c.3106T>G (p.Leu1036Val)
NM_000264.5(PTCH1):c.3107T>A (p.Leu1036Ter) rs1554691359
NM_000264.5(PTCH1):c.3108G>A (p.Leu1036=)
NM_000264.5(PTCH1):c.3111C>G (p.Ala1037=) rs1009386754
NM_000264.5(PTCH1):c.3112T>G (p.Cys1038Gly)
NM_000264.5(PTCH1):c.3114C>T (p.Cys1038=) rs1303636474
NM_000264.5(PTCH1):c.3123C>T (p.Leu1041=) rs1554691356
NM_000264.5(PTCH1):c.3125T>G (p.Val1042Gly)
NM_000264.5(PTCH1):c.3129C>G (p.Cys1043Trp)
NM_000264.5(PTCH1):c.312G>T (p.Val104=)
NM_000264.5(PTCH1):c.3130G>A (p.Ala1044Thr) rs138458710
NM_000264.5(PTCH1):c.3130G>T (p.Ala1044Ser)
NM_000264.5(PTCH1):c.3132T>G (p.Ala1044=)
NM_000264.5(PTCH1):c.3133G>C (p.Val1045Leu)
NM_000264.5(PTCH1):c.3137T>G (p.Phe1046Cys) rs1839099591
NM_000264.5(PTCH1):c.3139C>A (p.Leu1047Ile) rs1053698119
NM_000264.5(PTCH1):c.3139C>G (p.Leu1047Val)
NM_000264.5(PTCH1):c.3139_3142del (p.Phe1046_Leu1047insTer) rs1131690980
NM_000264.5(PTCH1):c.3141T>A (p.Leu1047=)
NM_000264.5(PTCH1):c.3149C>G (p.Pro1050Arg)
NM_000264.5(PTCH1):c.3150C>G (p.Pro1050=)
NM_000264.5(PTCH1):c.3150del (p.Trp1051fs) rs1588539623
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter) rs1060502301
NM_000264.5(PTCH1):c.3155C>A (p.Thr1052Lys)
NM_000264.5(PTCH1):c.3156G>T (p.Thr1052=)
NM_000264.5(PTCH1):c.315C>T (p.Gly105=)
NM_000264.5(PTCH1):c.3161G>A (p.Gly1054Glu)
NM_000264.5(PTCH1):c.3166A>G (p.Ile1056Val)
NM_000264.5(PTCH1):c.3168+3G>C
NM_000264.5(PTCH1):c.3171G>T (p.Val1057=) rs2136650471
NM_000264.5(PTCH1):c.3177C>G (p.Val1059=)
NM_000264.5(PTCH1):c.317T>G (p.Leu106Arg) rs1131690998
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.3185T>C (p.Leu1062Pro)
NM_000264.5(PTCH1):c.3187A>T (p.Met1063Leu)
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.319C>T (p.Leu107Phe) rs2118876683
NM_000264.5(PTCH1):c.3204C>A (p.Phe1068Leu) rs762419846
NM_000264.5(PTCH1):c.3204C>G (p.Phe1068Leu) rs762419846
NM_000264.5(PTCH1):c.3204C>T (p.Phe1068=) rs762419846
NM_000264.5(PTCH1):c.3209T>G (p.Met1070Arg) rs2136649542
NM_000264.5(PTCH1):c.3216C>G (p.Gly1072=) rs2136649380
NM_000264.5(PTCH1):c.3217C>A (p.Leu1073Ile)
NM_000264.5(PTCH1):c.321C>T (p.Leu107=)
NM_000264.5(PTCH1):c.321_323del (p.Ile108del)
NM_000264.5(PTCH1):c.3221T>C (p.Ile1074Thr)
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg) rs1838926237
NM_000264.5(PTCH1):c.3225A>T (p.Gly1075=) rs757101018
NM_000264.5(PTCH1):c.3226A>C (p.Ile1076Leu)
NM_000264.5(PTCH1):c.3226A>G (p.Ile1076Val)
NM_000264.5(PTCH1):c.3231G>A (p.Lys1077=)
NM_000264.5(PTCH1):c.3232C>T (p.Leu1078Phe)
NM_000264.5(PTCH1):c.3237T>C (p.Ser1079=) rs1838925156
NM_000264.5(PTCH1):c.3240C>A (p.Ala1080=)
NM_000264.5(PTCH1):c.3244C>T (p.Pro1082Ser)
NM_000264.5(PTCH1):c.3245C>A (p.Pro1082His) rs2136648648
NM_000264.5(PTCH1):c.3250G>T (p.Val1084Phe) rs1838922991
NM_000264.5(PTCH1):c.3250dup (p.Val1084fs) rs1588535611
NM_000264.5(PTCH1):c.3256C>T (p.Leu1086=)
NM_000264.5(PTCH1):c.3257T>C (p.Leu1086Pro) rs1588535542
NM_000264.5(PTCH1):c.3259A>G (p.Ile1087Val) rs2136648402
NM_000264.5(PTCH1):c.325T>C (p.Phe109Leu) rs1843655328
NM_000264.5(PTCH1):c.3261C>A (p.Ile1087=) rs768215021
NM_000264.5(PTCH1):c.3263C>A (p.Ala1088Asp)
NM_000264.5(PTCH1):c.3263C>T (p.Ala1088Val) rs1838920838
NM_000264.5(PTCH1):c.326T>C (p.Phe109Ser) rs1587693269
NM_000264.5(PTCH1):c.3272G>C (p.Gly1091Ala)
NM_000264.5(PTCH1):c.3275T>C (p.Ile1092Thr)
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.3280G>A (p.Val1094Met) rs1588535447
NM_000264.5(PTCH1):c.3288C>T (p.Phe1096=)
NM_000264.5(PTCH1):c.3298G>T (p.Val1100Phe)
NM_000264.5(PTCH1):c.3298_3306+3del
NM_000264.5(PTCH1):c.3303T>C (p.Ala1101=)
NM_000264.5(PTCH1):c.3304T>G (p.Leu1102Val) rs1554690984
NM_000264.5(PTCH1):c.3306+4T>C
NM_000264.5(PTCH1):c.3307-3C>T
NM_000264.5(PTCH1):c.3307-4A>C rs1554690494
NM_000264.5(PTCH1):c.3307-4A>G
NM_000264.5(PTCH1):c.3307G>T (p.Ala1103Ser) rs1838668785
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>A (p.Ile1108=)
NM_000264.5(PTCH1):c.3324C>T (p.Ile1108=) rs748117539
NM_000264.5(PTCH1):c.3328G>C (p.Asp1110His) rs911494100
NM_000264.5(PTCH1):c.332C>T (p.Ala111Val)
NM_000264.5(PTCH1):c.3330C>A (p.Asp1110Glu)
NM_000264.5(PTCH1):c.3335A>G (p.Asn1112Ser)
NM_000264.5(PTCH1):c.3336C>T (p.Asn1112=)
NM_000264.5(PTCH1):c.333C>T (p.Ala111=) rs863224351
NM_000264.5(PTCH1):c.3340A>C (p.Arg1114=) rs587776689
NM_000264.5(PTCH1):c.3344C>T (p.Ala1115Val) rs779192138
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met) rs201605273
NM_000264.5(PTCH1):c.3351T>C (p.Leu1117=)
NM_000264.5(PTCH1):c.3355C>G (p.Leu1119Val)
NM_000264.5(PTCH1):c.3355C>T (p.Leu1119=)
NM_000264.5(PTCH1):c.3357G>A (p.Leu1119=) rs1838662525
NM_000264.5(PTCH1):c.3358G>A (p.Glu1120Lys) rs1838662287
NM_000264.5(PTCH1):c.3360G>A (p.Glu1120=) rs1554690458
NM_000264.5(PTCH1):c.3363C>T (p.His1121=)
NM_000264.5(PTCH1):c.3364A>G (p.Met1122Val) rs1838661361
NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs) rs1060502273
NM_000264.5(PTCH1):c.3365T>A (p.Met1122Lys) rs929802114
NM_000264.5(PTCH1):c.3373C>G (p.Pro1125Ala)
NM_000264.5(PTCH1):c.3378C>G (p.Val1126=)
NM_000264.5(PTCH1):c.3379C>G (p.Leu1127Val)
NM_000264.5(PTCH1):c.3379C>T (p.Leu1127=) rs1032072492
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg) rs1588528637
NM_000264.5(PTCH1):c.3389C>T (p.Ala1130Val) rs1588528579
NM_000264.5(PTCH1):c.3392T>C (p.Val1131Ala)
NM_000264.5(PTCH1):c.3393G>A (p.Val1131=) rs1267662604
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala) rs1131690996
NM_000264.5(PTCH1):c.3398_3400del (p.Thr1133_Leu1134delinsMet)
NM_000264.5(PTCH1):c.339G>A (p.Ala113=)
NM_000264.5(PTCH1):c.339G>C (p.Ala113=) rs756224406
NM_000264.5(PTCH1):c.339G>T (p.Ala113=)
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val) rs1838656000
NM_000264.5(PTCH1):c.3402G>A (p.Leu1134=)
NM_000264.5(PTCH1):c.3402G>T (p.Leu1134=)
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro) rs1131690989
NM_000264.5(PTCH1):c.3405G>A (p.Leu1135=)
NM_000264.5(PTCH1):c.3408A>C (p.Gly1136=)
NM_000264.5(PTCH1):c.3408A>G (p.Gly1136=) rs769601779
NM_000264.5(PTCH1):c.340G>T (p.Val114Leu) rs1843653470
NM_000264.5(PTCH1):c.3410_3424del (p.Val1137_Ala1141del) rs1554690414
NM_000264.5(PTCH1):c.3412C>T (p.Leu1138=) rs1838654825
NM_000264.5(PTCH1):c.3418C>G (p.Leu1140Val)
NM_000264.5(PTCH1):c.341T>G (p.Val114Gly)
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=) rs745948150
NM_000264.5(PTCH1):c.3428C>G (p.Ser1143Cys)
NM_000264.5(PTCH1):c.3429T>A (p.Ser1143=) rs778900289
NM_000264.5(PTCH1):c.3432G>T (p.Glu1144Asp)
NM_000264.5(PTCH1):c.3438C>T (p.Asp1146=) rs1554690401
NM_000264.5(PTCH1):c.3440T>C (p.Phe1147Ser) rs1131690990
NM_000264.5(PTCH1):c.3443T>G (p.Ile1148Ser)
NM_000264.5(PTCH1):c.3444T>G (p.Ile1148Met) rs1439411173
NM_000264.5(PTCH1):c.3449+3A>G rs201942643
NM_000264.5(PTCH1):c.344G>T (p.Gly115Val) rs544052043
NM_000264.5(PTCH1):c.3450-11T>A
NM_000264.5(PTCH1):c.3459del (p.Phe1153fs) rs1131690976
NM_000264.5(PTCH1):c.3470C>T (p.Ala1157Val)
NM_000264.5(PTCH1):c.3471G>A (p.Ala1157=) rs950019214
NM_000264.5(PTCH1):c.3471G>T (p.Ala1157=)
NM_000264.5(PTCH1):c.3472A>T (p.Ile1158Phe) rs368636457
NM_000264.5(PTCH1):c.3474C>G (p.Ile1158Met)
NM_000264.5(PTCH1):c.3476T>C (p.Leu1159Pro) rs1588519508
NM_000264.5(PTCH1):c.3478A>G (p.Thr1160Ala)
NM_000264.5(PTCH1):c.3481A>G (p.Ile1161Val) rs202102540
NM_000264.5(PTCH1):c.3486C>T (p.Leu1162=) rs1554689696
NM_000264.5(PTCH1):c.3489C>T (p.Gly1163=) rs2136607957
NM_000264.5(PTCH1):c.3492T>G (p.Val1164=)
NM_000264.5(PTCH1):c.3493C>G (p.Leu1165Val)
NM_000264.5(PTCH1):c.3497A>G (p.Asn1166Ser) rs1271099813
NM_000264.5(PTCH1):c.3498T>C (p.Asn1166=)
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg) rs1131690985
NM_000264.5(PTCH1):c.3501G>C (p.Gly1167=)
NM_000264.5(PTCH1):c.3501G>T (p.Gly1167=)
NM_000264.5(PTCH1):c.3503T>A (p.Leu1168Gln)
NM_000264.5(PTCH1):c.350A>G (p.Lys117Arg) rs1234085004
NM_000264.5(PTCH1):c.3516del (p.Val1173fs)
NM_000264.5(PTCH1):c.3517G>A (p.Val1173Met) rs1588519372
NM_000264.5(PTCH1):c.3519G>C (p.Val1173=) rs1588519366
NM_000264.5(PTCH1):c.351A>G (p.Lys117=)
NM_000264.5(PTCH1):c.3527C>G (p.Ser1176Cys) rs864622160
NM_000264.5(PTCH1):c.3540A>C (p.Pro1180=) rs930364103
NM_000264.5(PTCH1):c.3543T>C (p.Tyr1181=)
NM_000264.5(PTCH1):c.3544C>G (p.Pro1182Ala) rs1259037941
NM_000264.5(PTCH1):c.3549+1G>A rs1838303542
NM_000264.5(PTCH1):c.3549G>A (p.Glu1183=)
NM_000264.5(PTCH1):c.3551T>C (p.Val1184Ala)
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.3557C>T (p.Pro1186Leu) rs1838242467
NM_000264.5(PTCH1):c.3562A>G (p.Asn1188Asp) rs1319757275
NM_000264.5(PTCH1):c.3564C>A (p.Asn1188Lys) rs864622621
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys) rs767535853
NM_000264.5(PTCH1):c.3568T>C (p.Leu1190=)
NM_000264.5(PTCH1):c.3569T>C (p.Leu1190Ser)
NM_000264.5(PTCH1):c.3574C>A (p.Arg1192Ser)
NM_000264.5(PTCH1):c.3575G>T (p.Arg1192Leu) rs762040036
NM_000264.5(PTCH1):c.3578T>A (p.Leu1193Gln)
NM_000264.5(PTCH1):c.357G>T (p.Ala119=)
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg) rs1838236724
NM_000264.5(PTCH1):c.3586C>T (p.Pro1196Ser) rs1588517811
NM_000264.5(PTCH1):c.3587C>A (p.Pro1196His) rs1217566464
NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=)
NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys) rs1588517764
NM_000264.5(PTCH1):c.3593C>G (p.Pro1198Arg) rs1564008924
NM_000264.5(PTCH1):c.3601C>T (p.Pro1201Ser) rs1838233287
NM_000264.5(PTCH1):c.3603C>T (p.Pro1201=)
NM_000264.5(PTCH1):c.3604C>A (p.Pro1202Thr)
NM_000264.5(PTCH1):c.3605C>A (p.Pro1202His)
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>A (p.Asn120Lys) rs1327411160
NM_000264.5(PTCH1):c.360C>T (p.Asn120=)
NM_000264.5(PTCH1):c.3612G>T (p.Val1204=)
NM_000264.5(PTCH1):c.3613G>A (p.Val1205Ile) rs1588517620
NM_000264.5(PTCH1):c.3614T>A (p.Val1205Asp) rs775882469
NM_000264.5(PTCH1):c.3614T>C (p.Val1205Ala)
NM_000264.5(PTCH1):c.3615C>G (p.Val1205=)
NM_000264.5(PTCH1):c.3616C>G (p.Arg1206Gly)
NM_000264.5(PTCH1):c.3618C>T (p.Arg1206=)
NM_000264.5(PTCH1):c.361C>G (p.Leu121Val) rs776424978
NM_000264.5(PTCH1):c.361C>T (p.Leu121Phe) rs776424978
NM_000264.5(PTCH1):c.3622G>T (p.Ala1208Ser) rs945517672
NM_000264.5(PTCH1):c.3623C>A (p.Ala1208Asp) rs914090288
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.3627G>A (p.Met1209Ile) rs1838227370
NM_000264.5(PTCH1):c.362T>C (p.Leu121Pro)
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.3635G>A (p.Gly1212Asp)
NM_000264.5(PTCH1):c.3639C>G (p.His1213Gln)
NM_000264.5(PTCH1):c.363C>G (p.Leu121=)
NM_000264.5(PTCH1):c.363C>T (p.Leu121=)
NM_000264.5(PTCH1):c.3640A>T (p.Thr1214Ser)
NM_000264.5(PTCH1):c.3643C>T (p.His1215Tyr)
NM_000264.5(PTCH1):c.3644A>G (p.His1215Arg)
NM_000264.5(PTCH1):c.364_369dup (p.Thr123_Asn124insGluThr)
NM_000264.5(PTCH1):c.3651G>A (p.Gly1217=)
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.3654T>G (p.Ser1218=)
NM_000264.5(PTCH1):c.3656A>T (p.Asp1219Val) rs2136600284
NM_000264.5(PTCH1):c.3659C>T (p.Ser1220Phe) 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.3678T>C (p.Ser1226=) rs1588517173
NM_000264.5(PTCH1):c.3681_3682del (p.Gln1228fs)
NM_000264.5(PTCH1):c.3684G>A (p.Gln1228=) rs2136599643
NM_000264.5(PTCH1):c.3693G>A (p.Val1231=)
NM_000264.5(PTCH1):c.3693G>C (p.Val1231=)
NM_000264.5(PTCH1):c.3699C>T (p.Gly1233=)
NM_000264.5(PTCH1):c.369C>G (p.Thr123=)
NM_000264.5(PTCH1):c.369C>T (p.Thr123=)
NM_000264.5(PTCH1):c.3702C>T (p.Leu1234=)
NM_000264.5(PTCH1):c.3709G>A (p.Glu1237Lys)
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.371_387del (p.Asn124fs) rs1554708626
NM_000264.5(PTCH1):c.3722A>C (p.Tyr1241Ser)
NM_000264.5(PTCH1):c.3726G>A (p.Glu1242=)
NM_000264.5(PTCH1):c.3727G>A (p.Ala1243Thr)
NM_000264.5(PTCH1):c.3729C>G (p.Ala1243=)
NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys) rs763779667
NM_000264.5(PTCH1):c.3735_3758del (p.Gly1246_Gln1253del)
NM_000264.5(PTCH1):c.3736G>A (p.Gly1246Ser)
NM_000264.5(PTCH1):c.3738C>G (p.Gly1246=)
NM_000264.5(PTCH1):c.373G>A (p.Val125Met) rs760253622
NM_000264.5(PTCH1):c.3740C>G (p.Ala1247Gly) rs1588516924
NM_000264.5(PTCH1):c.3740C>T (p.Ala1247Val) rs1588516924
NM_000264.5(PTCH1):c.3741G>C (p.Ala1247=)
NM_000264.5(PTCH1):c.3743G>C (p.Gly1248Ala) rs375857496
NM_000264.5(PTCH1):c.3743G>T (p.Gly1248Val)
NM_000264.5(PTCH1):c.3745G>A (p.Gly1249Ser)
NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg) rs769446796
NM_000264.5(PTCH1):c.3749C>G (p.Pro1250Arg) rs1838211042
NM_000264.5(PTCH1):c.3754C>G (p.His1252Asp) rs780990429
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)
NM_000264.5(PTCH1):c.3755A>C (p.His1252Pro) rs1838210172
NM_000264.5(PTCH1):c.3755A>G (p.His1252Arg) rs1838210172
NM_000264.5(PTCH1):c.375G>A (p.Val125=)
NM_000264.5(PTCH1):c.3761T>C (p.Val1254Ala)
NM_000264.5(PTCH1):c.3762G>A (p.Val1254=)
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met) rs150850039
NM_000264.5(PTCH1):c.3766G>T (p.Val1256Leu)
NM_000264.5(PTCH1):c.3769G>A (p.Glu1257Lys) rs750397931
NM_000264.5(PTCH1):c.3775A>G (p.Thr1259Ala)
NM_000264.5(PTCH1):c.3778G>T (p.Glu1260Ter) rs1131690988
NM_000264.5(PTCH1):c.3783C>G (p.Asn1261Lys)
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser) rs970679518
NM_000264.5(PTCH1):c.3788T>C (p.Val1263Ala) rs1588516673
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
NM_000264.5(PTCH1):c.3792C>G (p.Phe1264Leu) rs144312968
NM_000264.5(PTCH1):c.3793G>T (p.Ala1265Ser) rs759791227
NM_000264.5(PTCH1):c.3798C>T (p.His1266=)
NM_000264.5(PTCH1):c.3799T>G (p.Ser1267Ala) rs1588516614
NM_000264.5(PTCH1):c.3803C>A (p.Thr1268Asn)
NM_000264.5(PTCH1):c.3804+2dup rs1588516590
NM_000264.5(PTCH1):c.3804+3_3804+6del
NM_000264.5(PTCH1):c.3805-2A>G
NM_000264.5(PTCH1):c.3805-4G>A rs1060504537
NM_000264.5(PTCH1):c.3810C>A (p.Val1270=)
NM_000264.5(PTCH1):c.3814C>T (p.Pro1272Ser) rs1298467711
NM_000264.5(PTCH1):c.3815C>T (p.Pro1272Leu) rs774167762
NM_000264.5(PTCH1):c.3816C>A (p.Pro1272=) rs369295226
NM_000264.5(PTCH1):c.3816C>G (p.Pro1272=)
NM_000264.5(PTCH1):c.3822C>T (p.Ser1274=)
NM_000264.5(PTCH1):c.3823A>C (p.Arg1275=) rs1588512429
NM_000264.5(PTCH1):c.3824G>C (p.Arg1275Thr)
NM_000264.5(PTCH1):c.3828T>A (p.His1276Gln)
NM_000264.5(PTCH1):c.3831C>T (p.His1277=)
NM_000264.5(PTCH1):c.3835C>G (p.Pro1279Ala)
NM_000264.5(PTCH1):c.3839C>G (p.Ser1280Trp)
NM_000264.5(PTCH1):c.3840G>T (p.Ser1280=) rs750770371
NM_000264.5(PTCH1):c.3843C>G (p.Asn1281Lys)
NM_000264.5(PTCH1):c.3846G>C (p.Pro1282=)
NM_000264.5(PTCH1):c.3850C>T (p.Gln1284Ter) rs1838050037
NM_000264.5(PTCH1):c.3853C>T (p.Gln1285Ter)
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)
NM_000264.5(PTCH1):c.3857C>A (p.Pro1286His) rs1278213544
NM_000264.5(PTCH1):c.3857C>T (p.Pro1286Leu)
NM_000264.5(PTCH1):c.3858C>T (p.Pro1286=) rs1222530728
NM_000264.5(PTCH1):c.3859C>T (p.His1287Tyr) rs1838047745
NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg) rs2118873547
NM_000264.5(PTCH1):c.3860A>C (p.His1287Pro)
NM_000264.5(PTCH1):c.3860_3907del (p.His1287_Pro1302del) rs1064792957
NM_000264.5(PTCH1):c.3861C>T (p.His1287=)
NM_000264.5(PTCH1):c.3863T>A (p.Leu1288Gln)
NM_000264.5(PTCH1):c.3867C>T (p.Asp1289=) rs587780704
NM_000264.5(PTCH1):c.3870A>T (p.Ser1290=)
NM_000264.5(PTCH1):c.3871G>A (p.Gly1291Arg) rs2136583470
NM_000264.5(PTCH1):c.3883C>G (p.Pro1295Ala)
NM_000264.5(PTCH1):c.3883C>T (p.Pro1295Ser) rs1060502275
NM_000264.5(PTCH1):c.3886G>C (p.Gly1296Arg) rs372828014
NM_000264.5(PTCH1):c.3888A>C (p.Gly1296=)
NM_000264.5(PTCH1):c.3891G>C (p.Arg1297=)
NM_000264.5(PTCH1):c.3896G>T (p.Gly1299Val)
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)
NM_000264.5(PTCH1):c.389T>C (p.Val130Ala)
NM_000264.5(PTCH1):c.3900G>T (p.Gln1300His)
NM_000264.5(PTCH1):c.3901C>G (p.Gln1301Glu)
NM_000264.5(PTCH1):c.3902A>C (p.Gln1301Pro)
NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu) rs780042369
NM_000264.5(PTCH1):c.3908G>C (p.Arg1303Pro)
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.5(PTCH1):c.3909C>T (p.Arg1303=)
NM_000264.5(PTCH1):c.3910A>C (p.Arg1304=)
NM_000264.5(PTCH1):c.3910A>G (p.Arg1304Gly)
NM_000264.5(PTCH1):c.3911G>C (p.Arg1304Thr) rs1838039734
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>G (p.Asp1305Glu)
NM_000264.5(PTCH1):c.3917C>A (p.Pro1306His) rs864622483
NM_000264.5(PTCH1):c.3918C>T (p.Pro1306=)
NM_000264.5(PTCH1):c.3919C>G (p.Pro1307Ala) rs574880967
NM_000264.5(PTCH1):c.3920C>A (p.Pro1307His) rs181585555
NM_000264.5(PTCH1):c.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.3921dup (p.Arg1308fs) rs761353734
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser) rs762725821
NM_000264.5(PTCH1):c.3929G>T (p.Gly1310Val) rs773043616
NM_000264.5(PTCH1):c.3931T>G (p.Leu1311Val)
NM_000264.5(PTCH1):c.3933G>A (p.Leu1311=) rs761688859
NM_000264.5(PTCH1):c.3933G>T (p.Leu1311Phe) rs761688859
NM_000264.5(PTCH1):c.3936G>T (p.Trp1312Cys) rs1360926879
NM_000264.5(PTCH1):c.3939A>G (p.Pro1313=)
NM_000264.5(PTCH1):c.394+1G>A rs1131690995
NM_000264.5(PTCH1):c.3940C>A (p.Pro1314Thr)
NM_000264.5(PTCH1):c.3940C>G (p.Pro1314Ala)
NM_000264.5(PTCH1):c.3942C>T (p.Pro1314=) rs1406247800
NM_000264.5(PTCH1):c.3944C>A (p.Pro1315His) rs357564
NM_000264.5(PTCH1):c.3944C>G (p.Pro1315Arg) rs357564
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.3946T>G (p.Tyr1316Asp)
NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly) rs1482005246
NM_000264.5(PTCH1):c.395-3C>T
NM_000264.5(PTCH1):c.3951A>C (p.Arg1317Ser) rs1211632031
NM_000264.5(PTCH1):c.3953C>A (p.Pro1318Gln) rs536440590
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg) rs536440590
NM_000264.5(PTCH1):c.3953C>T (p.Pro1318Leu) rs536440590
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=) rs1554688549
NM_000264.5(PTCH1):c.3962A>C (p.Asp1321Ala)
NM_000264.5(PTCH1):c.3962A>G (p.Asp1321Gly)
NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr) rs896779358
NM_000264.5(PTCH1):c.3965C>T (p.Ala1322Val) rs1054532927
NM_000264.5(PTCH1):c.3966T>G (p.Ala1322=)
NM_000264.5(PTCH1):c.3967T>G (p.Phe1323Val)
NM_000264.5(PTCH1):c.3968T>G (p.Phe1323Cys)
NM_000264.5(PTCH1):c.3971A>T (p.Glu1324Val)
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>G (p.Thr1327=) rs1588511470
NM_000264.5(PTCH1):c.3983A>C (p.Glu1328Ala)
NM_000264.5(PTCH1):c.3989A>G (p.His1330Arg) rs1564005652
NM_000264.5(PTCH1):c.3990T>G (p.His1330Gln)
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.3997C>T (p.Pro1333Ser)
NM_000264.5(PTCH1):c.3999T>G (p.Pro1333=)
NM_000264.5(PTCH1):c.399A>G (p.Gly133=) rs2118551268
NM_000264.5(PTCH1):c.4001G>C (p.Ser1334Thr) rs200620662
NM_000264.5(PTCH1):c.4002C>T (p.Ser1334=)
NM_000264.5(PTCH1):c.4005T>C (p.Asn1335=) rs1588511343
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
NM_000264.5(PTCH1):c.4011_4022del (p.Trp1339_Arg1342del)
NM_000264.5(PTCH1):c.4013G>T (p.Arg1338Leu) rs771238114
NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del) rs774819810
NM_000264.5(PTCH1):c.4015T>C (p.Trp1339Arg)
NM_000264.5(PTCH1):c.4015T>G (p.Trp1339Gly)
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp) rs1218728112
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=) rs773564643
NM_000264.5(PTCH1):c.4022C>T (p.Pro1341Leu) rs748609458
NM_000264.5(PTCH1):c.4023T>A (p.Pro1341=)
NM_000264.5(PTCH1):c.4029G>A (p.Gly1343=) rs750057721
NM_000264.5(PTCH1):c.4033C>G (p.Arg1345Gly) rs556901417
NM_000264.5(PTCH1):c.4035T>G (p.Arg1345=)
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter) rs1131690986
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=)
NM_000264.5(PTCH1):c.4048C>A (p.Arg1350=) rs140417636
NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) rs786204103
NM_000264.5(PTCH1):c.4052A>G (p.Asn1351Ser) rs1588510932
NM_000264.5(PTCH1):c.4053C>T (p.Asn1351=)
NM_000264.5(PTCH1):c.4060T>C (p.Ser1354Pro)
NM_000264.5(PTCH1):c.4064C>T (p.Thr1355Ile) rs779482395
NM_000264.5(PTCH1):c.4065T>A (p.Thr1355=)
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.4078T>G (p.Ser1360Ala)
NM_000264.5(PTCH1):c.4079C>A (p.Ser1360Tyr)
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.4084C>T (p.Pro1362Ser) rs1838001528
NM_000264.5(PTCH1):c.4087G>C (p.Gly1363Arg) rs767625820
NM_000264.5(PTCH1):c.4089C>T (p.Gly1363=)
NM_000264.5(PTCH1):c.4095C>T (p.Cys1365=) rs864622569
NM_000264.5(PTCH1):c.4096C>T (p.Gln1366Ter)
NM_000264.5(PTCH1):c.4098G>C (p.Gln1366His) rs1588510720
NM_000264.5(PTCH1):c.4100C>G (p.Pro1367Arg)
NM_000264.5(PTCH1):c.4104C>T (p.Ile1368=)
NM_000264.5(PTCH1):c.4107C>T (p.Thr1369=)
NM_000264.5(PTCH1):c.410G>A (p.Ser137Asn)
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.4117G>A (p.Ala1373Thr) rs1267726258
NM_000264.5(PTCH1):c.4119T>C (p.Ala1373=)
NM_000264.5(PTCH1):c.4125C>G (p.Ala1375=)
NM_000264.5(PTCH1):c.4125C>T (p.Ala1375=) rs775974258
NM_000264.5(PTCH1):c.4128C>A (p.Ser1376=)
NM_000264.5(PTCH1):c.4129G>C (p.Val1377Leu) rs745337014
NM_000264.5(PTCH1):c.4130T>C (p.Val1377Ala)
NM_000264.5(PTCH1):c.4134T>A (p.Thr1378=)
NM_000264.5(PTCH1):c.4138G>C (p.Ala1380Pro) rs111481152
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val) rs777641179
NM_000264.5(PTCH1):c.4140C>A (p.Ala1380=)
NM_000264.5(PTCH1):c.4141G>T (p.Val1381Leu) rs187104739
NM_000264.5(PTCH1):c.4142T>C (p.Val1381Ala)
NM_000264.5(PTCH1):c.4145A>C (p.His1382Pro) rs1837991686
NM_000264.5(PTCH1):c.4145A>G (p.His1382Arg)
NM_000264.5(PTCH1):c.4146C>A (p.His1382Gln)
NM_000264.5(PTCH1):c.4146C>G (p.His1382Gln) rs1207158056
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu) rs754065147
NM_000264.5(PTCH1):c.4155T>G (p.Pro1385=) rs2136574783
NM_000264.5(PTCH1):c.4157T>A (p.Val1386Asp)
NM_000264.5(PTCH1):c.4160del (p.Pro1387fs) rs1837987148
NM_000264.5(PTCH1):c.4163G>A (p.Gly1388Glu)
NM_000264.5(PTCH1):c.4163G>C (p.Gly1388Ala)
NM_000264.5(PTCH1):c.4164G>A (p.Gly1388=)
NM_000264.5(PTCH1):c.4166C>G (p.Pro1389Arg) rs1837985984
NM_000264.5(PTCH1):c.4166C>T (p.Pro1389Leu) rs1837985984
NM_000264.5(PTCH1):c.4167T>C (p.Pro1389=)
NM_000264.5(PTCH1):c.4168G>C (p.Gly1390Arg) rs1239904766
NM_000264.5(PTCH1):c.4169G>A (p.Gly1390Glu) rs1837985101
NM_000264.5(PTCH1):c.4171C>A (p.Arg1391=) rs45535032
NM_000264.5(PTCH1):c.4174A>G (p.Asn1392Asp)
NM_000264.5(PTCH1):c.4175A>C (p.Asn1392Thr)
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu) rs1368334005
NM_000264.5(PTCH1):c.4184G>A (p.Gly1395Glu)
NM_000264.5(PTCH1):c.4184G>T (p.Gly1395Val)
NM_000264.5(PTCH1):c.4186G>C (p.Gly1396Arg)
NM_000264.5(PTCH1):c.4187G>C (p.Gly1396Ala)
NM_000264.5(PTCH1):c.4187dup (p.Leu1397fs) rs1588510168
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.4192T>C (p.Cys1398Arg) rs1372936088
NM_000264.5(PTCH1):c.4197A>G (p.Pro1399=)
NM_000264.5(PTCH1):c.419T>C (p.Leu140Ser) rs1554702197
NM_000264.5(PTCH1):c.4200C>T (p.Gly1400=) rs1554688167
NM_000264.5(PTCH1):c.4201T>C (p.Tyr1401His) rs2136573477
NM_000264.5(PTCH1):c.4202A>G (p.Tyr1401Cys) rs1837975310
NM_000264.5(PTCH1):c.4203C>T (p.Tyr1401=) rs1588510064
NM_000264.5(PTCH1):c.4204C>A (p.Pro1402Thr)
NM_000264.5(PTCH1):c.4204C>T (p.Pro1402Ser)
NM_000264.5(PTCH1):c.4214A>T (p.Asp1405Val)
NM_000264.5(PTCH1):c.4215C>T (p.Asp1405=) rs2136573135
NM_000264.5(PTCH1):c.4216C>G (p.His1406Asp) rs1837973275
NM_000264.5(PTCH1):c.4218C>A (p.His1406Gln) rs372558350
NM_000264.5(PTCH1):c.4221C>T (p.Gly1407=)
NM_000264.5(PTCH1):c.4222C>T (p.Leu1408=)
NM_000264.5(PTCH1):c.4226T>C (p.Phe1409Ser)
NM_000264.5(PTCH1):c.422A>T (p.Asn141Ile)
NM_000264.5(PTCH1):c.4230G>A (p.Glu1410=) rs774528758
NM_000264.5(PTCH1):c.4230_4231insACTGAG (p.Glu1410_Asp1411insThrGlu) rs1434554186
NM_000264.5(PTCH1):c.4231G>C (p.Asp1411His)
NM_000264.5(PTCH1):c.4233C>A (p.Asp1411Glu) rs2136572617
NM_000264.5(PTCH1):c.4233C>T (p.Asp1411=) rs2136572617
NM_000264.5(PTCH1):c.4234C>G (p.Pro1412Ala) rs1554688130
NM_000264.5(PTCH1):c.4235_4236delinsTG (p.Pro1412Leu)
NM_000264.5(PTCH1):c.4236C>A (p.Pro1412=)
NM_000264.5(PTCH1):c.4236C>G (p.Pro1412=) rs369083374
NM_000264.5(PTCH1):c.4236C>T (p.Pro1412=) rs369083374
NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
NM_000264.5(PTCH1):c.4241T>C (p.Val1414Ala)
NM_000264.5(PTCH1):c.4242G>T (p.Val1414=)
NM_000264.5(PTCH1):c.4243C>A (p.Pro1415Thr)
NM_000264.5(PTCH1):c.4243C>T (p.Pro1415Ser)
NM_000264.5(PTCH1):c.4246T>C (p.Phe1416Leu) rs1554688102
NM_000264.5(PTCH1):c.4248C>T (p.Phe1416=)
NM_000264.5(PTCH1):c.4248_4249delinsTT (p.His1417Tyr)
NM_000264.5(PTCH1):c.4249C>T (p.His1417Tyr)
NM_000264.5(PTCH1):c.4250A>G (p.His1417Arg)
NM_000264.5(PTCH1):c.4251C>A (p.His1417Gln)
NM_000264.5(PTCH1):c.4252G>T (p.Val1418Phe) rs369882883
NM_000264.5(PTCH1):c.4254C>T (p.Val1418=) rs1295502837
NM_000264.5(PTCH1):c.4255C>A (p.Arg1419=) rs139942632
NM_000264.5(PTCH1):c.4257G>C (p.Arg1419=) rs1588509739
NM_000264.5(PTCH1):c.4258T>C (p.Cys1420Arg) rs864622068
NM_000264.5(PTCH1):c.4258T>G (p.Cys1420Gly)
NM_000264.5(PTCH1):c.4259G>A (p.Cys1420Tyr) rs913816675
NM_000264.5(PTCH1):c.4263G>A (p.Glu1421=) rs2136571795
NM_000264.5(PTCH1):c.4264A>G (p.Arg1422Gly) rs1246323077
NM_000264.5(PTCH1):c.4266G>A (p.Arg1422=)
NM_000264.5(PTCH1):c.4268G>T (p.Arg1423Met)
NM_000264.5(PTCH1):c.426T>C (p.Tyr142=)
NM_000264.5(PTCH1):c.4271A>T (p.Asp1424Val) rs1588509666
NM_000264.5(PTCH1):c.4272T>C (p.Asp1424=)
NM_000264.5(PTCH1):c.4275G>C (p.Ser1425=)
NM_000264.5(PTCH1):c.4275G>T (p.Ser1425=)
NM_000264.5(PTCH1):c.4279G>A (p.Val1427Met)
NM_000264.5(PTCH1):c.4279G>C (p.Val1427Leu)
NM_000264.5(PTCH1):c.4280T>C (p.Val1427Ala) rs1060502283
NM_000264.5(PTCH1):c.4286T>C (p.Val1429Ala)
NM_000264.5(PTCH1):c.428C>T (p.Thr143Ile)
NM_000264.5(PTCH1):c.4295T>A (p.Leu1432Gln) rs755078405
NM_000264.5(PTCH1):c.4296G>C (p.Leu1432=)
NM_000264.5(PTCH1):c.4296G>T (p.Leu1432=) rs1554688070
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu) rs772802013
NM_000264.5(PTCH1):c.4299G>C (p.Gln1433His)
NM_000264.5(PTCH1):c.429T>A (p.Thr143=)
NM_000264.5(PTCH1):c.4301A>G (p.Asp1434Gly) rs2136571074
NM_000264.5(PTCH1):c.4307A>G (p.Glu1436Gly) rs2136570975
NM_000264.5(PTCH1):c.4310G>T (p.Cys1437Phe)
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter) rs2136570815
NM_000264.5(PTCH1):c.4318A>G (p.Arg1440Gly) rs1564004291
NM_000264.5(PTCH1):c.4319G>A (p.Arg1440Lys) rs1354112241
NM_000264.5(PTCH1):c.431G>A (p.Arg144His) rs1316474105
NM_000264.5(PTCH1):c.431G>T (p.Arg144Leu) rs1316474105
NM_000264.5(PTCH1):c.4323C>T (p.Pro1441=)
NM_000264.5(PTCH1):c.4324C>A (p.Arg1442=)
NM_000264.5(PTCH1):c.4324C>G (p.Arg1442Gly) rs143464326
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val) rs864622100
NM_000264.5(PTCH1):c.4330A>G (p.Ser1444Gly)
NM_000264.5(PTCH1):c.4332C>T (p.Ser1444=) rs1325469372
NM_000264.5(PTCH1):c.4335C>T (p.Ser1445=)
NM_000264.5(PTCH1):c.4338C>T (p.Ser1446=)
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser) rs972576439
NM_000264.5(PTCH1):c.438G>A (p.Lys146=)
NM_000264.5(PTCH1):c.440T>C (p.Ile147Thr) rs1588622790
NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter) rs1344258746
NM_000264.5(PTCH1):c.450G>T (p.Glu150Asp) rs1588622758
NM_000264.5(PTCH1):c.453T>G (p.Ala151=) rs879188085
NM_000264.5(PTCH1):c.454A>C (p.Met152Leu)
NM_000264.5(PTCH1):c.456G>A (p.Met152Ile)
NM_000264.5(PTCH1):c.456del (p.Met152fs)
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.470T>C (p.Leu157Pro) rs2118545890
NM_000264.5(PTCH1):c.472A>C (p.Met158Leu) rs758656848
NM_000264.5(PTCH1):c.472A>G (p.Met158Val) rs758656848
NM_000264.5(PTCH1):c.473T>C (p.Met158Thr)
NM_000264.5(PTCH1):c.476T>C (p.Ile159Thr)
NM_000264.5(PTCH1):c.480G>A (p.Gln160=) rs1841921572
NM_000264.5(PTCH1):c.482_491del (p.Thr161fs) rs1131690981
NM_000264.5(PTCH1):c.483C>T (p.Thr161=)
NM_000264.5(PTCH1):c.484C>T (p.Pro162Ser)
NM_000264.5(PTCH1):c.487A>G (p.Lys163Glu) rs1588622580
NM_000264.5(PTCH1):c.488A>C (p.Lys163Thr) rs56406491
NM_000264.5(PTCH1):c.488AAG[2] (p.Glu165del) rs1201611173
NM_000264.5(PTCH1):c.491A>G (p.Glu164Gly)
NM_000264.5(PTCH1):c.496G>A (p.Gly166Ser) rs2118543729
NM_000264.5(PTCH1):c.497del (p.Gly166fs)
NM_000264.5(PTCH1):c.500C>T (p.Ala167Val) rs587780707
NM_000264.5(PTCH1):c.502A>G (p.Asn168Asp) rs2118543274
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>G (p.Leu170Val) rs1841917213
NM_000264.5(PTCH1):c.510G>A (p.Leu170=)
NM_000264.5(PTCH1):c.510G>T (p.Leu170=) rs531730217
NM_000264.5(PTCH1):c.512C>T (p.Thr171Ile) rs1554702106
NM_000264.5(PTCH1):c.513C>G (p.Thr171=)
NM_000264.5(PTCH1):c.516A>G (p.Thr172=)
NM_000264.5(PTCH1):c.517G>A (p.Glu173Lys)
NM_000264.5(PTCH1):c.525C>T (p.Leu175=) rs1554702079
NM_000264.5(PTCH1):c.531A>T (p.Gln177His) rs1841912540
NM_000264.5(PTCH1):c.538G>C (p.Asp180His) rs1554702067
NM_000264.5(PTCH1):c.543G>T (p.Ser181=)
NM_000264.5(PTCH1):c.551A>G (p.Gln184Arg)
NM_000264.5(PTCH1):c.552G>A (p.Gln184=)
NM_000264.5(PTCH1):c.554C>T (p.Ala185Val) rs1276503562
NM_000264.5(PTCH1):c.555C>T (p.Ala185=) rs1197767332
NM_000264.5(PTCH1):c.556A>G (p.Ser186Gly) rs1564062769
NM_000264.5(PTCH1):c.559C>T (p.Arg187Cys) rs1554702047
NM_000264.5(PTCH1):c.560G>T (p.Arg187Leu) rs138034434
NM_000264.5(PTCH1):c.561T>C (p.Arg187=)
NM_000264.5(PTCH1):c.564C>G (p.Val188=) rs963079015
NM_000264.5(PTCH1):c.564C>T (p.Val188=)
NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
NM_000264.5(PTCH1):c.573C>T (p.Tyr191=) rs1249050389
NM_000264.5(PTCH1):c.575T>G (p.Met192Arg)
NM_000264.5(PTCH1):c.580A>G (p.Asn194Asp)
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr) rs1554702009
NM_000264.5(PTCH1):c.585-15_586del
NM_000264.5(PTCH1):c.585-3T>C
NM_000264.5(PTCH1):c.585-4_585-2del
NM_000264.5(PTCH1):c.585-5A>G rs1588614746
NM_000264.5(PTCH1):c.587A>G (p.Gln196Arg)
NM_000264.5(PTCH1):c.594del (p.Lys198fs)
NM_000264.5(PTCH1):c.595T>C (p.Leu199=) rs2118474956
NM_000264.5(PTCH1):c.602A>G (p.His201Arg)
NM_000264.5(PTCH1):c.606G>A (p.Leu202=) rs769719333
NM_000264.5(PTCH1):c.613A>C (p.Lys205Gln) rs1554700724
NM_000264.5(PTCH1):c.613A>T (p.Lys205Ter)
NM_000264.5(PTCH1):c.614A>C (p.Lys205Thr) rs1841595401
NM_000264.5(PTCH1):c.618A>G (p.Ser206=) rs1841594710
NM_000264.5(PTCH1):c.623A>G (p.Glu208Gly)
NM_000264.5(PTCH1):c.628A>G (p.Ile210Val) rs1588614551
NM_000264.5(PTCH1):c.636A>G (p.Glu212=)
NM_000264.5(PTCH1):c.638C>G (p.Thr213Arg)
NM_000264.5(PTCH1):c.641G>T (p.Gly214Val) rs2118472707
NM_000264.5(PTCH1):c.645C>T (p.Tyr215=) rs878853858
NM_000264.5(PTCH1):c.654+3A>G rs1131690966
NM_000264.5(PTCH1):c.655A>T (p.Ile219Leu)
NM_000264.5(PTCH1):c.657A>C (p.Ile219=)
NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter) rs1554700647
NM_000264.5(PTCH1):c.663A>C (p.Glu221Asp)
NM_000264.5(PTCH1):c.663A>G (p.Glu221=) rs1479973586
NM_000264.5(PTCH1):c.665_666del (p.Tyr222fs) rs1131690993
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile) rs1266754583
NM_000264.5(PTCH1):c.667C>T (p.Leu223Phe)
NM_000264.5(PTCH1):c.672C>A (p.Tyr224Ter) rs1588614178
NM_000264.5(PTCH1):c.672C>T (p.Tyr224=) rs1588614178
NM_000264.5(PTCH1):c.675T>A (p.Pro225=)
NM_000264.5(PTCH1):c.685A>T (p.Ile229Phe)
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000264.5(PTCH1):c.691C>T (p.Pro231Ser) rs1564057856
NM_000264.5(PTCH1):c.693T>C (p.Pro231=)
NM_000264.5(PTCH1):c.702C>T (p.Cys234=)
NM_000264.5(PTCH1):c.704T>G (p.Phe235Cys)
NM_000264.5(PTCH1):c.705C>T (p.Phe235=)
NM_000264.5(PTCH1):c.715G>A (p.Ala239Thr) rs1841573078
NM_000264.5(PTCH1):c.715dup (p.Ala239fs) rs1131690971
NM_000264.5(PTCH1):c.725A>G (p.Gln242Arg)
NM_000264.5(PTCH1):c.725A>T (p.Gln242Leu)
NM_000264.5(PTCH1):c.726G>A (p.Gln242=)
NM_000264.5(PTCH1):c.726G>T (p.Gln242His)
NM_000264.5(PTCH1):c.730G>T (p.Gly244Trp)
NM_000264.5(PTCH1):c.731G>A (p.Gly244Glu) rs1588614020
NM_000264.5(PTCH1):c.737C>T (p.Ala246Val)
NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter) rs1060502281
NM_000264.5(PTCH1):c.742C>T (p.Leu248Phe) rs1841568646
NM_000264.5(PTCH1):c.746+1G>C rs1131690994
NM_000264.5(PTCH1):c.746+3A>G rs1841567989
NM_000264.5(PTCH1):c.750T>G (p.Gly250=)
NM_000264.5(PTCH1):c.751A>G (p.Lys251Glu) rs2118428694
NM_000264.5(PTCH1):c.752A>T (p.Lys251Ile)
NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg) rs1554700016
NM_000264.5(PTCH1):c.757C>T (p.Pro253Ser)
NM_000264.5(PTCH1):c.763C>T (p.Arg255Trp) rs925067209
NM_000264.5(PTCH1):c.764G>T (p.Arg255Leu) rs779870576
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.779A>C (p.Asp260Ala) rs368102115
NM_000264.5(PTCH1):c.783T>G (p.Pro261=) rs1554699996
NM_000264.5(PTCH1):c.785T>C (p.Leu262Ser) rs1318134628
NM_000264.5(PTCH1):c.787G>A (p.Glu263Lys) rs1588610385
NM_000264.5(PTCH1):c.795G>A (p.Leu265=)
NM_000264.5(PTCH1):c.798A>G (p.Glu266=)
NM_000264.5(PTCH1):c.804A>G (p.Leu268=)
NM_000264.5(PTCH1):c.805_806dup (p.Lys270fs)
NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer) rs1131690969
NM_000264.5(PTCH1):c.812_814del (p.Ile271del) rs1588610299
NM_000264.5(PTCH1):c.816C>T (p.Asn272=)
NM_000264.5(PTCH1):c.818A>G (p.Tyr273Cys)
NM_000264.5(PTCH1):c.820C>G (p.Gln274Glu) rs2118422378
NM_000264.5(PTCH1):c.822A>G (p.Gln274=)
NM_000264.5(PTCH1):c.825G>A (p.Val275=) rs2118421809
NM_000264.5(PTCH1):c.829A>G (p.Ser277Gly)
NM_000264.5(PTCH1):c.831C>T (p.Ser277=) rs773794742
NM_000264.5(PTCH1):c.841A>G (p.Met281Val) rs2118420301
NM_000264.5(PTCH1):c.842T>C (p.Met281Thr) rs1564055682
NM_000264.5(PTCH1):c.846G>A (p.Leu282=)
NM_000264.5(PTCH1):c.855T>C (p.Ala285=)
NM_000264.5(PTCH1):c.866A>G (p.His289Arg)
NM_000264.5(PTCH1):c.868G>A (p.Gly290Ser) rs2118418275
NM_000264.5(PTCH1):c.874A>G (p.Met292Val) rs1588610088
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.877_887del (p.Asp293fs) rs1131690973
NM_000264.5(PTCH1):c.879C>T (p.Asp293=)
NM_000264.5(PTCH1):c.885C>T (p.Pro295=)
NM_000264.5(PTCH1):c.886del (p.Cys296fs) rs1131690987
NM_000264.5(PTCH1):c.889C>T (p.Leu297Phe) rs1841445491
NM_000264.5(PTCH1):c.892A>C (p.Asn298His) rs1588609918
NM_000264.5(PTCH1):c.892A>G (p.Asn298Asp)
NM_000264.5(PTCH1):c.892A>T (p.Asn298Tyr)
NM_000264.5(PTCH1):c.896C>A (p.Pro299Gln) rs141939274
NM_000264.5(PTCH1):c.897G>C (p.Pro299=) rs56141639
NM_000264.5(PTCH1):c.901G>C (p.Asp301His)
NM_000264.5(PTCH1):c.901G>T (p.Asp301Tyr) rs767601899
NM_000264.5(PTCH1):c.903T>C (p.Asp301=)
NM_000264.5(PTCH1):c.904C>T (p.Pro302Ser)
NM_000264.5(PTCH1):c.905C>T (p.Pro302Leu)
NM_000264.5(PTCH1):c.906A>T (p.Pro302=)
NM_000264.5(PTCH1):c.919A>G (p.Thr307Ala)
NM_000264.5(PTCH1):c.923C>T (p.Ala308Val)
NM_000264.5(PTCH1):c.938C>T (p.Ser313Leu)
NM_000264.5(PTCH1):c.939A>G (p.Ser313=) rs1841439010
NM_000264.5(PTCH1):c.941_944del (p.Thr314fs)
NM_000264.5(PTCH1):c.943A>C (p.Lys315Gln)
NM_000264.5(PTCH1):c.945+1G>A rs863224444
NM_000264.5(PTCH1):c.945+2T>C rs1131690979
NM_000264.5(PTCH1):c.945+5G>A rs1588609575
NM_000264.5(PTCH1):c.946-5T>A rs1588608882
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe) rs1380199153
NM_000264.5(PTCH1):c.950T>C (p.Leu317Pro)
NM_000264.5(PTCH1):c.954T>C (p.Asp318=)
NM_000264.5(PTCH1):c.954dup (p.Met319fs)
NM_000264.5(PTCH1):c.956T>G (p.Met319Arg)
NM_000264.5(PTCH1):c.957G>A (p.Met319Ile)
NM_000264.5(PTCH1):c.960C>T (p.Ala320=)
NM_000264.5(PTCH1):c.961C>T (p.Leu321Phe)
NM_000264.5(PTCH1):c.972T>C (p.Asn324=) rs759157693
NM_000264.5(PTCH1):c.973G>A (p.Gly325Ser) rs1588608738
NM_000264.5(PTCH1):c.981T>C (p.Cys327=) rs2118394148
NM_000264.5(PTCH1):c.983A>G (p.His328Arg)
NM_000264.5(PTCH1):c.983A>T (p.His328Leu) rs1484111496
NM_000264.5(PTCH1):c.990A>G (p.Leu330=)
NM_000264.5(PTCH1):c.998A>G (p.Lys333Arg)
NM_000264.5(PTCH1):c.999G>A (p.Lys333=)
NM_001083603.3(PTCH1):c.147C>G (p.Asn49Lys)

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