ClinVar Miner

List of variants in gene combination LOC100507346, PTCH1 studied for Gorlin syndrome

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Gene type:
ClinVar version:
Total variants: 628
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2560+9G>C rs2066829 0.44128
NM_000264.5(PTCH1):c.2250+25T>C rs16909898 0.10561
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_000264.5(PTCH1):c.1854C>T (p.Cys618=) rs62637628 0.00887
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=) rs1805156 0.00086
NM_000264.5(PTCH1):c.2050G>A (p.Glu684Lys) rs62637629 0.00061
NM_000264.5(PTCH1):c.1847+14C>T rs202007968 0.00053
NM_000264.5(PTCH1):c.2560+8G>A rs201541845 0.00049
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092 0.00036
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839 0.00032
NM_000264.5(PTCH1):c.2004C>T (p.Tyr668=) rs151216961 0.00025
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000264.5(PTCH1):c.2044C>T (p.Arg682Cys) rs570441437 0.00019
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=) rs141134542 0.00017
NM_000264.5(PTCH1):c.2484C>T (p.Asn828=) rs143305989 0.00016
NM_000264.5(PTCH1):c.2560+7C>T rs75576651 0.00016
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153 0.00015
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met) rs201125580 0.00015
NM_000264.5(PTCH1):c.2148C>T (p.Ser716=) rs781475120 0.00014
NM_000264.5(PTCH1):c.2528T>C (p.Met843Thr) rs145217620 0.00012
NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg) rs587780697 0.00011
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=) rs145690756 0.00010
NM_000264.5(PTCH1):c.1848-17G>T rs375623107 0.00010
NM_000264.5(PTCH1):c.1800A>G (p.Leu600=) rs768939676 0.00009
NM_000264.5(PTCH1):c.2215C>T (p.His739Tyr) rs200189314 0.00009
NM_000264.5(PTCH1):c.2333C>T (p.Thr778Met) rs747762028 0.00009
NM_000264.5(PTCH1):c.2170G>A (p.Glu724Lys) rs144501989 0.00008
NM_000264.5(PTCH1):c.2124A>G (p.Thr708=) rs147204440 0.00007
NM_000264.5(PTCH1):c.1808G>A (p.Arg603His) rs199523893 0.00006
NM_000264.5(PTCH1):c.1998G>A (p.Thr666=) rs369710438 0.00006
NM_000264.5(PTCH1):c.2074G>A (p.Val692Met) rs758487789 0.00006
NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala) rs45579032 0.00006
NM_000264.5(PTCH1):c.2560+11G>A rs774494594 0.00006
NM_000264.5(PTCH1):c.2068G>A (p.Val690Ile) rs750970743 0.00005
NM_000264.5(PTCH1):c.2497A>G (p.Met833Val) rs771222407 0.00005
NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn) rs559293815 0.00004
NM_000264.5(PTCH1):c.1994G>A (p.Arg665His) rs139705799 0.00004
NM_000264.5(PTCH1):c.2015C>T (p.Thr672Met) rs372219420 0.00004
NM_000264.5(PTCH1):c.2049C>T (p.Ser683=) rs756242911 0.00004
NM_000264.5(PTCH1):c.2439G>A (p.Pro813=) rs151266988 0.00004
NM_000264.5(PTCH1):c.1934A>G (p.Tyr645Cys) rs772841736 0.00003
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=) rs201103723 0.00003
NM_000264.5(PTCH1):c.2506G>A (p.Glu836Lys) rs78708791 0.00003
NM_000264.5(PTCH1):c.1729-5C>T rs763030829 0.00002
NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys) rs778627715 0.00002
NM_000264.5(PTCH1):c.1855G>A (p.Val619Ile) rs1060502266 0.00002
NM_000264.5(PTCH1):c.1902C>T (p.His634=) rs761015917 0.00002
NM_000264.5(PTCH1):c.1912C>T (p.Arg638Cys) rs1053507002 0.00002
NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) rs149762881 0.00002
NM_000264.5(PTCH1):c.2043G>A (p.Pro681=) rs745862347 0.00002
NM_000264.5(PTCH1):c.2067C>T (p.Pro689=) rs758799508 0.00002
NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg) rs368362152 0.00002
NM_000264.5(PTCH1):c.2139C>T (p.Ser713=) rs143630307 0.00002
NM_000264.5(PTCH1):c.2169C>T (p.Leu723=) rs1176604355 0.00002
NM_000264.5(PTCH1):c.2248A>G (p.Lys750Glu) rs1239869539 0.00002
NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile) rs878853850 0.00002
NM_000264.5(PTCH1):c.2348G>A (p.Arg783Gln) rs779296683 0.00002
NM_000264.5(PTCH1):c.1729-7C>T rs188325835 0.00001
NM_000264.5(PTCH1):c.1733C>T (p.Ala578Val) rs960630296 0.00001
NM_000264.5(PTCH1):c.1735G>A (p.Val579Ile) rs751708515 0.00001
NM_000264.5(PTCH1):c.1762G>A (p.Val588Ile) rs1472804824 0.00001
NM_000264.5(PTCH1):c.1804C>A (p.Arg602=) rs863224650 0.00001
NM_000264.5(PTCH1):c.1816A>C (p.Arg606=) rs1389910090 0.00001
NM_000264.5(PTCH1):c.1817G>A (p.Arg606Lys) rs748991295 0.00001
NM_000264.5(PTCH1):c.1829T>C (p.Ile610Thr) rs1234183663 0.00001
NM_000264.5(PTCH1):c.1835G>T (p.Cys612Phe) rs777587539 0.00001
NM_000264.5(PTCH1):c.1837T>C (p.Cys613Arg) rs948568790 0.00001
NM_000264.5(PTCH1):c.1845A>G (p.Thr615=) rs755882246 0.00001
NM_000264.5(PTCH1):c.1847+20T>A rs754970528 0.00001
NM_000264.5(PTCH1):c.1848-12C>T rs1235985632 0.00001
NM_000264.5(PTCH1):c.1848-13C>T rs755868590 0.00001
NM_000264.5(PTCH1):c.1848-19_1848-18del rs779136053 0.00001
NM_000264.5(PTCH1):c.1848-9T>G rs1840326238 0.00001
NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu) rs765258547 0.00001
NM_000264.5(PTCH1):c.1892C>T (p.Thr631Ile) rs727504112 0.00001
NM_000264.5(PTCH1):c.1893C>T (p.Thr631=) rs757344587 0.00001
NM_000264.5(PTCH1):c.1910C>T (p.Thr637Ile) rs369090032 0.00001
NM_000264.5(PTCH1):c.1917C>T (p.Tyr639=) rs770506138 0.00001
NM_000264.5(PTCH1):c.1945A>G (p.Ser649Gly) rs375049109 0.00001
NM_000264.5(PTCH1):c.1954C>T (p.His652Tyr) rs1035631674 0.00001
NM_000264.5(PTCH1):c.1955A>G (p.His652Arg) rs1420640611 0.00001
NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met) rs746898855 0.00001
NM_000264.5(PTCH1):c.1973T>C (p.Met658Thr) rs1588575145 0.00001
NM_000264.5(PTCH1):c.1975C>G (p.Gln659Glu) rs1268572514 0.00001
NM_000264.5(PTCH1):c.1981A>G (p.Thr661Ala) rs753850577 0.00001
NM_000264.5(PTCH1):c.1988A>G (p.Gln663Arg) rs1840305709 0.00001
NM_000264.5(PTCH1):c.1992C>A (p.Leu664=) rs1466845678 0.00001
NM_000264.5(PTCH1):c.1993C>T (p.Arg665Cys) rs767947110 0.00001
NM_000264.5(PTCH1):c.1997C>T (p.Thr666Met) rs752043221 0.00001
NM_000264.5(PTCH1):c.2005G>A (p.Asp669Asn) rs772574714 0.00001
NM_000264.5(PTCH1):c.2016G>A (p.Thr672=) rs776286129 0.00001
NM_000264.5(PTCH1):c.2019C>T (p.His673=) rs587780695 0.00001
NM_000264.5(PTCH1):c.2020G>A (p.Val674Met) rs1060502291 0.00001
NM_000264.5(PTCH1):c.2022G>A (p.Val674=) rs368564259 0.00001
NM_000264.5(PTCH1):c.2022G>T (p.Val674=) rs368564259 0.00001
NM_000264.5(PTCH1):c.2034C>T (p.Thr678=) rs779883480 0.00001
NM_000264.5(PTCH1):c.2035G>A (p.Ala679Thr) rs771882746 0.00001
NM_000264.5(PTCH1):c.2045G>A (p.Arg682His) rs1366288601 0.00001
NM_000264.5(PTCH1):c.2063A>G (p.Gln688Arg) rs751955563 0.00001
NM_000264.5(PTCH1):c.2073C>T (p.Thr691=) rs371643436 0.00001
NM_000264.5(PTCH1):c.2085C>T (p.Asp695=) rs1452372504 0.00001
NM_000264.5(PTCH1):c.2086A>G (p.Thr696Ala) rs1588574496 0.00001
NM_000264.5(PTCH1):c.2096G>T (p.Cys699Phe) rs547829353 0.00001
NM_000264.5(PTCH1):c.2117G>C (p.Ser706Thr) rs140497736 0.00001
NM_000264.5(PTCH1):c.2118C>T (p.Ser706=) rs943011476 0.00001
NM_000264.5(PTCH1):c.2123C>T (p.Thr708Ile) rs1060502290 0.00001
NM_000264.5(PTCH1):c.2129A>G (p.Asp710Gly) rs1402724349 0.00001
NM_000264.5(PTCH1):c.2130C>A (p.Asp710Glu) rs774362306 0.00001
NM_000264.5(PTCH1):c.2141A>G (p.Gln714Arg) rs1051496812 0.00001
NM_000264.5(PTCH1):c.2149G>A (p.Asp717Asn) rs1311707136 0.00001
NM_000264.5(PTCH1):c.2172G>C (p.Glu724Asp) rs747274181 0.00001
NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg) rs963297092 0.00001
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser) rs758811078 0.00001
NM_000264.5(PTCH1):c.2179T>C (p.Cys727Arg) rs779167673 0.00001
NM_000264.5(PTCH1):c.2193A>T (p.Thr731=) rs760285524 0.00001
NM_000264.5(PTCH1):c.2219A>G (p.Tyr740Cys) rs1156974460 0.00001
NM_000264.5(PTCH1):c.2235G>A (p.Leu745=) rs749283740 0.00001
NM_000264.5(PTCH1):c.2250+15C>T rs768887056 0.00001
NM_000264.5(PTCH1):c.2250+17T>C rs367972605 0.00001
NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117 0.00001
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe) rs544963328 0.00001
NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile) rs755391704 0.00001
NM_000264.5(PTCH1):c.2309G>A (p.Arg770Gln) rs762942660 0.00001
NM_000264.5(PTCH1):c.2313G>A (p.Val771=) rs773304123 0.00001
NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu) rs923429610 0.00001
NM_000264.5(PTCH1):c.2334G>A (p.Thr778=) rs1369922802 0.00001
NM_000264.5(PTCH1):c.2343A>G (p.Val781=) rs746117249 0.00001
NM_000264.5(PTCH1):c.2361A>C (p.Glu787Asp) rs1159846014 0.00001
NM_000264.5(PTCH1):c.2364T>C (p.Tyr788=) rs1362991131 0.00001
NM_000264.5(PTCH1):c.2367C>T (p.Asp789=) rs908085179 0.00001
NM_000264.5(PTCH1):c.2370T>C (p.Phe790=) rs1060502300 0.00001
NM_000264.5(PTCH1):c.2379A>G (p.Ala793=) rs140673214 0.00001
NM_000264.5(PTCH1):c.2391C>T (p.Tyr797=) rs778260156 0.00001
NM_000264.5(PTCH1):c.2429C>T (p.Ala810Val) rs1228732568 0.00001
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) rs754623561 0.00001
NM_000264.5(PTCH1):c.2443A>G (p.Ile815Val) rs375257965 0.00001
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) rs766227557 0.00001
NM_000264.5(PTCH1):c.2461G>A (p.Asp821Asn) rs762855028 0.00001
NM_000264.5(PTCH1):c.2466A>G (p.Leu822=) rs750317626 0.00001
NM_000264.5(PTCH1):c.2467C>T (p.His823Tyr) rs370915763 0.00001
NM_000264.5(PTCH1):c.2469C>T (p.His823=) rs761707282 0.00001
NM_000264.5(PTCH1):c.2505A>G (p.Glu835=) rs749651063 0.00001
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg) rs587778628 0.00001
NM_000264.5(PTCH1):c.2560+10C>T rs779855404 0.00001
NM_000264.5(PTCH1):c.2560+20T>C rs750223422 0.00001
NC_000009.12:g.(?_95467116)_(95469931_?)del
NM_000264.5(PTCH1):c.1729-10C>T rs2118100530
NM_000264.5(PTCH1):c.1729-11T>C rs752605765
NM_000264.5(PTCH1):c.1729-11del rs779000277
NM_000264.5(PTCH1):c.1729-11dup rs779000277
NM_000264.5(PTCH1):c.1729-14T>A rs1416846970
NM_000264.5(PTCH1):c.1729-14T>G
NM_000264.5(PTCH1):c.1729-19A>G
NM_000264.5(PTCH1):c.1729-19A>T rs2118101112
NM_000264.5(PTCH1):c.1729-8G>T rs2118100362
NM_000264.5(PTCH1):c.1729G>A (p.Ala577Thr) rs1554695631
NM_000264.5(PTCH1):c.1734G>A (p.Ala578=) rs765440424
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del) rs1588578556
NM_000264.5(PTCH1):c.1737_1745del (p.Val580_Val582del) rs1588578536
NM_000264.5(PTCH1):c.1738G>A (p.Val580Ile) rs1840408569
NM_000264.5(PTCH1):c.1741G>C (p.Val581Leu)
NM_000264.5(PTCH1):c.1742T>C (p.Val581Ala) rs777030659
NM_000264.5(PTCH1):c.1744G>A (p.Val582Met)
NM_000264.5(PTCH1):c.1746G>A (p.Val582=) rs1588578518
NM_000264.5(PTCH1):c.1749C>T (p.Phe583=)
NM_000264.5(PTCH1):c.1755_1757delinsGG (p.Phe585fs) rs1554695612
NM_000264.5(PTCH1):c.1756G>A (p.Ala586Thr) rs1699771172
NM_000264.5(PTCH1):c.1758C>A (p.Ala586=) rs2118096020
NM_000264.5(PTCH1):c.1759A>G (p.Met587Val) rs1840405779
NM_000264.5(PTCH1):c.1760T>C (p.Met587Thr) rs1588578473
NM_000264.5(PTCH1):c.1761G>T (p.Met587Ile)
NM_000264.5(PTCH1):c.1764del (p.Leu589fs) rs1564035949
NM_000264.5(PTCH1):c.1768C>T (p.Leu590Phe) rs2118095021
NM_000264.5(PTCH1):c.1770C>T (p.Leu590=)
NM_000264.5(PTCH1):c.1772T>C (p.Ile591Thr)
NM_000264.5(PTCH1):c.1772T>G (p.Ile591Ser) rs2118094624
NM_000264.5(PTCH1):c.1773T>C (p.Ile591=) rs2118094514
NM_000264.5(PTCH1):c.1776dup (p.Pro593fs)
NM_000264.5(PTCH1):c.1780G>T (p.Ala594Ser) rs2118093961
NM_000264.5(PTCH1):c.1781C>T (p.Ala594Val)
NM_000264.5(PTCH1):c.1782A>G (p.Ala594=)
NM_000264.5(PTCH1):c.1788C>T (p.Leu596=) rs2118093248
NM_000264.5(PTCH1):c.1791C>T (p.Ser597=)
NM_000264.5(PTCH1):c.1795G>A (p.Asp599Asn)
NM_000264.5(PTCH1):c.1802A>G (p.Tyr601Cys) rs2118092432
NM_000264.5(PTCH1):c.1804C>T (p.Arg602Ter) rs863224650
NM_000264.5(PTCH1):c.1805G>A (p.Arg602Gln) rs1382474804
NM_000264.5(PTCH1):c.1809C>G (p.Arg603=) rs145690756
NM_000264.5(PTCH1):c.1811A>G (p.Glu604Gly) rs756951491
NM_000264.5(PTCH1):c.1812G>A (p.Glu604=) rs1564035792
NM_000264.5(PTCH1):c.1813G>C (p.Asp605His)
NM_000264.5(PTCH1):c.1815C>T (p.Asp605=) rs1588578295
NM_000264.5(PTCH1):c.1818G>A (p.Arg606=)
NM_000264.5(PTCH1):c.1822C>G (p.Leu608Val) rs1840400624
NM_000264.5(PTCH1):c.1828A>G (p.Ile610Val) rs1588578266
NM_000264.5(PTCH1):c.1840T>C (p.Phe614Leu) rs1193948667
NM_000264.5(PTCH1):c.1840T>G (p.Phe614Val) rs1193948667
NM_000264.5(PTCH1):c.1842T>C (p.Phe614=) rs2118088756
NM_000264.5(PTCH1):c.1846A>G (p.Ser616Gly) rs1131690983
NM_000264.5(PTCH1):c.1847+16G>A rs2118087400
NM_000264.5(PTCH1):c.1847+17C>T rs1840397379
NM_000264.5(PTCH1):c.1847+19G>A rs2118087215
NM_000264.5(PTCH1):c.1847+1G>A rs1840398430
NM_000264.5(PTCH1):c.1847+1G>T
NM_000264.5(PTCH1):c.1847+2T>G rs2118088248
NM_000264.5(PTCH1):c.1847+4C>T rs2118088023
NM_000264.5(PTCH1):c.1847+5A>G rs1286074829
NM_000264.5(PTCH1):c.1847+6T>C rs2118087853
NM_000264.5(PTCH1):c.1847G>A (p.Ser616Asn)
NM_000264.5(PTCH1):c.1848-10C>T
NM_000264.5(PTCH1):c.1848-11C>G rs2118063448
NM_000264.5(PTCH1):c.1848-19A>G
NM_000264.5(PTCH1):c.1848-3C>G rs2118062649
NM_000264.5(PTCH1):c.1848-7C>A
NM_000264.5(PTCH1):c.1848-7C>T
NM_000264.5(PTCH1):c.1848C>A (p.Ser616Arg)
NM_000264.5(PTCH1):c.1852T>C (p.Cys618Arg) rs2118062260
NM_000264.5(PTCH1):c.1863_1864del (p.Arg621fs) rs2118060990
NM_000264.5(PTCH1):c.1864G>A (p.Val622Met) rs765258547
NM_000264.5(PTCH1):c.1865T>A (p.Val622Glu)
NM_000264.5(PTCH1):c.1871A>G (p.Gln624Arg) rs1840322792
NM_000264.5(PTCH1):c.1874T>A (p.Val625Asp) rs1175793715
NM_000264.5(PTCH1):c.1875T>C (p.Val625=)
NM_000264.5(PTCH1):c.1878A>G (p.Glu626=)
NM_000264.5(PTCH1):c.1882C>T (p.Gln628Ter) rs1060502274
NM_000264.5(PTCH1):c.1883A>C (p.Gln628Pro)
NM_000264.5(PTCH1):c.1885del (p.Ala629fs) rs1554695251
NM_000264.5(PTCH1):c.1889A>C (p.Tyr630Ser) rs1840320961
NM_000264.5(PTCH1):c.1890C>T (p.Tyr630=) rs2118058472
NM_000264.5(PTCH1):c.1892C>A (p.Thr631Asn)
NM_000264.5(PTCH1):c.1894del (p.Asp632fs)
NM_000264.5(PTCH1):c.1895A>G (p.Asp632Gly)
NM_000264.5(PTCH1):c.1896C>A (p.Asp632Glu) rs2118057608
NM_000264.5(PTCH1):c.1897A>G (p.Thr633Ala) rs1840319889
NM_000264.5(PTCH1):c.1900C>A (p.His634Asn) rs764218645
NM_000264.5(PTCH1):c.1900_1907del (p.His634fs)
NM_000264.5(PTCH1):c.1902C>G (p.His634Gln) rs761015917
NM_000264.5(PTCH1):c.1902del (p.His634fs) rs1840319154
NM_000264.5(PTCH1):c.1903G>A (p.Asp635Asn) rs372555269
NM_000264.5(PTCH1):c.1903G>C (p.Asp635His)
NM_000264.5(PTCH1):c.1903G>T (p.Asp635Tyr) rs372555269
NM_000264.5(PTCH1):c.1904A>C (p.Asp635Ala) rs200321717
NM_000264.5(PTCH1):c.1904A>G (p.Asp635Gly)
NM_000264.5(PTCH1):c.1904A>T (p.Asp635Val) rs200321717
NM_000264.5(PTCH1):c.1906A>G (p.Asn636Asp) rs1390308281
NM_000264.5(PTCH1):c.1906A>T (p.Asn636Tyr)
NM_000264.5(PTCH1):c.1907A>G (p.Asn636Ser) rs1588575591
NM_000264.5(PTCH1):c.1908T>C (p.Asn636=) rs538643667
NM_000264.5(PTCH1):c.1910C>A (p.Thr637Asn)
NM_000264.5(PTCH1):c.1915T>C (p.Tyr639His)
NM_000264.5(PTCH1):c.1916A>G (p.Tyr639Cys)
NM_000264.5(PTCH1):c.1918A>G (p.Ser640Gly) rs1840315398
NM_000264.5(PTCH1):c.1920C>T (p.Ser640=) rs2118054074
NM_000264.5(PTCH1):c.1923C>A (p.Pro641=)
NM_000264.5(PTCH1):c.1923C>G (p.Pro641=)
NM_000264.5(PTCH1):c.1924C>T (p.Pro642Ser)
NM_000264.5(PTCH1):c.1925C>A (p.Pro642Gln) rs762371629
NM_000264.5(PTCH1):c.1925C>G (p.Pro642Arg) rs762371629
NM_000264.5(PTCH1):c.1926A>G (p.Pro642=)
NM_000264.5(PTCH1):c.1928C>G (p.Pro643Arg)
NM_000264.5(PTCH1):c.1930C>A (p.Pro644Thr) rs1840312910
NM_000264.5(PTCH1):c.1932C>G (p.Pro644=) rs1314908873
NM_000264.5(PTCH1):c.1932C>T (p.Pro644=) rs1314908873
NM_000264.5(PTCH1):c.1936A>G (p.Ser646Gly) rs1588575341
NM_000264.5(PTCH1):c.1938C>T (p.Ser646=) rs2118052414
NM_000264.5(PTCH1):c.1939A>T (p.Ser647Cys) rs2118052357
NM_000264.5(PTCH1):c.1941C>A (p.Ser647Arg) rs2118052149
NM_000264.5(PTCH1):c.1942C>T (p.His648Tyr)
NM_000264.5(PTCH1):c.1943A>G (p.His648Arg)
NM_000264.5(PTCH1):c.1946G>T (p.Ser649Ile) rs2118051663
NM_000264.5(PTCH1):c.1953C>T (p.Ala651=)
NM_000264.5(PTCH1):c.1958A>T (p.Glu653Val) rs1554695145
NM_000264.5(PTCH1):c.1962G>A (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.1962G>C (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.1962G>T (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.1965G>T (p.Gln655His) rs2118049998
NM_000264.5(PTCH1):c.1969A>T (p.Thr657Ser) rs1564033929
NM_000264.5(PTCH1):c.1971C>T (p.Thr657=)
NM_000264.5(PTCH1):c.1972A>G (p.Met658Val) rs1448553293
NM_000264.5(PTCH1):c.1975C>T (p.Gln659Ter)
NM_000264.5(PTCH1):c.1978T>A (p.Ser660Thr) rs2118048874
NM_000264.5(PTCH1):c.1981A>C (p.Thr661Pro)
NM_000264.5(PTCH1):c.1983T>G (p.Thr661=) rs201955746
NM_000264.5(PTCH1):c.1984G>A (p.Val662Ile) rs1332668908
NM_000264.5(PTCH1):c.1985T>C (p.Val662Ala)
NM_000264.5(PTCH1):c.1987C>T (p.Gln663Ter)
NM_000264.5(PTCH1):c.1990C>G (p.Leu664Val) rs1564033840
NM_000264.5(PTCH1):c.1992C>T (p.Leu664=) rs1466845678
NM_000264.5(PTCH1):c.1994G>T (p.Arg665Leu)
NM_000264.5(PTCH1):c.1995C>G (p.Arg665=)
NM_000264.5(PTCH1):c.1995C>T (p.Arg665=) rs1037533662
NM_000264.5(PTCH1):c.1998G>T (p.Thr666=) rs369710438
NM_000264.5(PTCH1):c.1999G>T (p.Glu667Ter) rs1588574943
NM_000264.5(PTCH1):c.2000A>C (p.Glu667Ala) rs2118046932
NM_000264.5(PTCH1):c.2000A>T (p.Glu667Val)
NM_000264.5(PTCH1):c.2001G>A (p.Glu667=) rs1840303330
NM_000264.5(PTCH1):c.2002T>A (p.Tyr668Asn) rs1564033766
NM_000264.5(PTCH1):c.2003_2004delinsTA (p.Tyr668Leu)
NM_000264.5(PTCH1):c.2007C>A (p.Asp669Glu)
NM_000264.5(PTCH1):c.2007C>G (p.Asp669Glu)
NM_000264.5(PTCH1):c.2009C>T (p.Pro670Leu) rs2118046186
NM_000264.5(PTCH1):c.2010_2011dup (p.His671fs) rs1554695110
NM_000264.5(PTCH1):c.2011C>G (p.His671Asp) rs376678753
NM_000264.5(PTCH1):c.2011dup (p.His671fs) rs1554695110
NM_000264.5(PTCH1):c.2013C>T (p.His671=) rs2118045866
NM_000264.5(PTCH1):c.2014A>G (p.Thr672Ala)
NM_000264.5(PTCH1):c.2017C>A (p.His673Asn)
NM_000264.5(PTCH1):c.2017C>G (p.His673Asp)
NM_000264.5(PTCH1):c.2020G>C (p.Val674Leu)
NM_000264.5(PTCH1):c.2021dup (p.Tyr675fs) rs2118045103
NM_000264.5(PTCH1):c.2023T>C (p.Tyr675His) rs2118044840
NM_000264.5(PTCH1):c.2024A>G (p.Tyr675Cys)
NM_000264.5(PTCH1):c.2026T>C (p.Tyr676His)
NM_000264.5(PTCH1):c.2027A>G (p.Tyr676Cys) rs1274998781
NM_000264.5(PTCH1):c.2028C>T (p.Tyr676=) rs2118044447
NM_000264.5(PTCH1):c.2031C>T (p.Thr677=) rs2118044176
NM_000264.5(PTCH1):c.2032A>G (p.Thr678Ala)
NM_000264.5(PTCH1):c.2036C>T (p.Ala679Val)
NM_000264.5(PTCH1):c.2037T>C (p.Ala679=)
NM_000264.5(PTCH1):c.2042C>G (p.Pro681Arg) rs1588574709
NM_000264.5(PTCH1):c.2042C>T (p.Pro681Leu)
NM_000264.5(PTCH1):c.2044C>G (p.Arg682Gly) rs570441437
NM_000264.5(PTCH1):c.2049C>G (p.Ser683=) rs756242911
NM_000264.5(PTCH1):c.2050G>C (p.Glu684Gln)
NM_000264.5(PTCH1):c.2050G>T (p.Glu684Ter)
NM_000264.5(PTCH1):c.2057C>G (p.Ser686Cys) rs1373585633
NM_000264.5(PTCH1):c.2057_2058dup (p.Val687fs) rs2118041703
NM_000264.5(PTCH1):c.2059G>C (p.Val687Leu)
NM_000264.5(PTCH1):c.2059G>T (p.Val687Leu)
NM_000264.5(PTCH1):c.2059del (p.Val687fs)
NM_000264.5(PTCH1):c.2060del (p.Val687fs)
NM_000264.5(PTCH1):c.2061G>T (p.Val687=) rs1588574610
NM_000264.5(PTCH1):c.2062C>T (p.Gln688Ter) rs1554695039
NM_000264.5(PTCH1):c.2067C>A (p.Pro689=) rs758799508
NM_000264.5(PTCH1):c.2068G>C (p.Val690Leu) rs750970743
NM_000264.5(PTCH1):c.2069T>C (p.Val690Ala) rs1840294655
NM_000264.5(PTCH1):c.2072C>T (p.Thr691Ile) rs1840294159
NM_000264.5(PTCH1):c.2078C>T (p.Thr693Ile)
NM_000264.5(PTCH1):c.2079A>G (p.Thr693=)
NM_000264.5(PTCH1):c.2080C>G (p.Gln694Glu)
NM_000264.5(PTCH1):c.2080C>T (p.Gln694Ter) rs1840292996
NM_000264.5(PTCH1):c.2083G>A (p.Asp695Asn) rs2118039182
NM_000264.5(PTCH1):c.2085C>A (p.Asp695Glu) rs1452372504
NM_000264.5(PTCH1):c.2086A>C (p.Thr696Pro)
NM_000264.5(PTCH1):c.2086A>T (p.Thr696Ser) rs1588574496
NM_000264.5(PTCH1):c.2086dup (p.Thr696fs)
NM_000264.5(PTCH1):c.2090T>C (p.Leu697Pro)
NM_000264.5(PTCH1):c.2090T>G (p.Leu697Arg) rs199892130
NM_000264.5(PTCH1):c.2091C>T (p.Leu697=) rs2118038595
NM_000264.5(PTCH1):c.2095T>G (p.Cys699Gly)
NM_000264.5(PTCH1):c.2096G>C (p.Cys699Ser) rs547829353
NM_000264.5(PTCH1):c.2102G>T (p.Ser701Ile) rs775235892
NM_000264.5(PTCH1):c.2103C>T (p.Ser701=)
NM_000264.5(PTCH1):c.2104C>T (p.Pro702Ser) rs2118037487
NM_000264.5(PTCH1):c.2107G>A (p.Glu703Lys) rs2118037130
NM_000264.5(PTCH1):c.2107G>T (p.Glu703Ter) rs2118037130
NM_000264.5(PTCH1):c.2109G>A (p.Glu703=)
NM_000264.5(PTCH1):c.2110A>G (p.Ser704Gly) rs1182895378
NM_000264.5(PTCH1):c.2111G>A (p.Ser704Asn)
NM_000264.5(PTCH1):c.2112C>A (p.Ser704Arg)
NM_000264.5(PTCH1):c.2114C>T (p.Thr705Ile)
NM_000264.5(PTCH1):c.2115C>A (p.Thr705=)
NM_000264.5(PTCH1):c.2117G>A (p.Ser706Asn) rs140497736
NM_000264.5(PTCH1):c.2120C>G (p.Ser707Cys) rs1840288367
NM_000264.5(PTCH1):c.2121C>T (p.Ser707=) rs1588574313
NM_000264.5(PTCH1):c.2122A>C (p.Thr708Pro)
NM_000264.5(PTCH1):c.2122A>G (p.Thr708Ala)
NM_000264.5(PTCH1):c.2125A>C (p.Arg709=) rs2118035695
NM_000264.5(PTCH1):c.2126G>A (p.Arg709Lys) rs1840287540
NM_000264.5(PTCH1):c.2126G>C (p.Arg709Thr)
NM_000264.5(PTCH1):c.2131C>T (p.Leu711=)
NM_000264.5(PTCH1):c.2134C>G (p.Leu712Val) rs587780696
NM_000264.5(PTCH1):c.2134C>T (p.Leu712Phe) rs587780696
NM_000264.5(PTCH1):c.2137T>G (p.Ser713Ala)
NM_000264.5(PTCH1):c.2138C>G (p.Ser713Cys) rs1554694963
NM_000264.5(PTCH1):c.2144del (p.Phe715fs) rs2118033907
NM_000264.5(PTCH1):c.2145C>T (p.Phe715=) rs1300358041
NM_000264.5(PTCH1):c.2146T>C (p.Ser716Pro) rs1564033174
NM_000264.5(PTCH1):c.2148dup (p.Asp717fs) rs1840283586
NM_000264.5(PTCH1):c.2151C>T (p.Asp717=)
NM_000264.5(PTCH1):c.2153C>A (p.Ser718Tyr) rs2118032855
NM_000264.5(PTCH1):c.2154C>T (p.Ser718=) rs2118032734
NM_000264.5(PTCH1):c.2156G>A (p.Ser719Asn) rs1840282022
NM_000264.5(PTCH1):c.2156G>C (p.Ser719Thr) rs1840282022
NM_000264.5(PTCH1):c.2159T>A (p.Leu720His)
NM_000264.5(PTCH1):c.2160C>G (p.Leu720=)
NM_000264.5(PTCH1):c.2162A>G (p.His721Arg)
NM_000264.5(PTCH1):c.2163C>T (p.His721=) rs2118031842
NM_000264.5(PTCH1):c.2163del (p.Cys722fs) rs1840281213
NM_000264.5(PTCH1):c.2168T>G (p.Leu723Arg) rs1554694943
NM_000264.5(PTCH1):c.2169C>G (p.Leu723=)
NM_000264.5(PTCH1):c.2170G>C (p.Glu724Gln) rs144501989
NM_000264.5(PTCH1):c.2172dup (p.Pro725fs) rs2118031073
NM_000264.5(PTCH1):c.2174C>A (p.Pro725His) rs963297092
NM_000264.5(PTCH1):c.2177C>A (p.Pro726His) rs587780697
NM_000264.5(PTCH1):c.2177C>T (p.Pro726Leu) rs587780697
NM_000264.5(PTCH1):c.2178C>G (p.Pro726=) rs1588573960
NM_000264.5(PTCH1):c.2178dup (p.Cys727fs) rs2118030407
NM_000264.5(PTCH1):c.2179T>A (p.Cys727Ser) rs779167673
NM_000264.5(PTCH1):c.2179T>G (p.Cys727Gly) rs779167673
NM_000264.5(PTCH1):c.2179del (p.Cys727fs) rs1840277125
NM_000264.5(PTCH1):c.2180G>A (p.Cys727Tyr)
NM_000264.5(PTCH1):c.2181T>C (p.Cys727=)
NM_000264.5(PTCH1):c.2183_2189del (p.Thr728fs)
NM_000264.5(PTCH1):c.2190G>A (p.Trp730Ter) rs1131690992
NM_000264.5(PTCH1):c.2190G>C (p.Trp730Cys) rs1131690992
NM_000264.5(PTCH1):c.2192C>T (p.Thr731Ile) rs2118029007
NM_000264.5(PTCH1):c.2196C>T (p.Leu732=) rs1355356596
NM_000264.5(PTCH1):c.2197T>C (p.Ser733Pro) rs2118028468
NM_000264.5(PTCH1):c.2197_2198del (p.Ser733fs) rs1060502292
NM_000264.5(PTCH1):c.2198C>A (p.Ser733Ter) rs1311804361
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter) rs1311804361
NM_000264.5(PTCH1):c.2199_2203del (p.Ser734fs) rs2118027698
NM_000264.5(PTCH1):c.2204T>A (p.Phe735Tyr) rs2118027491
NM_000264.5(PTCH1):c.2204_2205del (p.Phe735fs) rs2118027397
NM_000264.5(PTCH1):c.2212A>T (p.Lys738Ter) rs2118026370
NM_000264.5(PTCH1):c.2215_2216delinsTT (p.His739Phe) rs864622295
NM_000264.5(PTCH1):c.2216A>G (p.His739Arg)
NM_000264.5(PTCH1):c.2220T>A (p.Tyr740Ter)
NM_000264.5(PTCH1):c.2220T>C (p.Tyr740=)
NM_000264.5(PTCH1):c.2225C>G (p.Pro742Arg) rs1185984575
NM_000264.5(PTCH1):c.2225C>T (p.Pro742Leu) rs1185984575
NM_000264.5(PTCH1):c.2227T>C (p.Phe743Leu) rs1840271655
NM_000264.5(PTCH1):c.2229C>T (p.Phe743=) rs1009657162
NM_000264.5(PTCH1):c.2230C>G (p.Leu744Val)
NM_000264.5(PTCH1):c.2233T>C (p.Leu745=) rs1840271123
NM_000264.5(PTCH1):c.2235G>C (p.Leu745Phe) rs749283740
NM_000264.5(PTCH1):c.2238A>G (p.Lys746=)
NM_000264.5(PTCH1):c.2238A>T (p.Lys746Asn) rs776817244
NM_000264.5(PTCH1):c.2239C>T (p.Pro747Ser)
NM_000264.5(PTCH1):c.2240C>A (p.Pro747Gln) rs1840269986
NM_000264.5(PTCH1):c.2244del (p.Ala749fs) rs1564032829
NM_000264.5(PTCH1):c.2245G>A (p.Ala749Thr)
NM_000264.5(PTCH1):c.2250+19A>T
NM_000264.5(PTCH1):c.2250+1G>T
NM_000264.5(PTCH1):c.2250+4_2250+5dup
NM_000264.5(PTCH1):c.2250+6C>T
NM_000264.5(PTCH1):c.2250+9C>T rs1840268803
NM_000264.5(PTCH1):c.2251-12C>T
NM_000264.5(PTCH1):c.2251-15C>A
NM_000264.5(PTCH1):c.2251-15C>T
NM_000264.5(PTCH1):c.2251-16G>A
NM_000264.5(PTCH1):c.2251-17T>C rs2117977225
NM_000264.5(PTCH1):c.2251-18G>A rs777219377
NM_000264.5(PTCH1):c.2251-18G>T rs777219377
NM_000264.5(PTCH1):c.2251-1G>A
NM_000264.5(PTCH1):c.2251-27_2251-1del
NM_000264.5(PTCH1):c.2251-28_2276del rs1564031259
NM_000264.5(PTCH1):c.2251-2A>C rs2117976305
NM_000264.5(PTCH1):c.2251-2A>G rs2117976305
NM_000264.5(PTCH1):c.2251-3C>G rs1588569651
NM_000264.5(PTCH1):c.2251-4C>G
NM_000264.5(PTCH1):c.2251-7G>C rs1459536795
NM_000264.5(PTCH1):c.2251-7del rs2117976757
NM_000264.5(PTCH1):c.2251-8del rs2117976871
NM_000264.5(PTCH1):c.2253A>C (p.Val751=)
NM_000264.5(PTCH1):c.2254G>A (p.Val752Met) rs2117976199
NM_000264.5(PTCH1):c.2256G>A (p.Val752=) rs1060504536
NM_000264.5(PTCH1):c.2256_2259del (p.Val753fs) rs1840114155
NM_000264.5(PTCH1):c.2257G>A (p.Val753Met) rs1588569635
NM_000264.5(PTCH1):c.2258T>C (p.Val753Ala) rs1840114511
NM_000264.5(PTCH1):c.2260A>G (p.Ile754Val)
NM_000264.5(PTCH1):c.2262C>T (p.Ile754=)
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
NM_000264.5(PTCH1):c.2266_2272dup (p.Leu758fs) rs2117975028
NM_000264.5(PTCH1):c.2271T>C (p.Phe757=) rs1588569604
NM_000264.5(PTCH1):c.2272C>T (p.Leu758=) rs863224346
NM_000264.5(PTCH1):c.2274G>T (p.Leu758=)
NM_000264.5(PTCH1):c.2276G>C (p.Gly759Ala) rs2117974684
NM_000264.5(PTCH1):c.2277C>T (p.Gly759=)
NM_000264.5(PTCH1):c.2285G>A (p.Gly762Glu) rs1840110120
NM_000264.5(PTCH1):c.2286G>C (p.Gly762=) rs2117974113
NM_000264.5(PTCH1):c.2286G>T (p.Gly762=)
NM_000264.5(PTCH1):c.2286_2287dup (p.Val763fs)
NM_000264.5(PTCH1):c.2287G>A (p.Val763Ile) rs544963328
NM_000264.5(PTCH1):c.2287dup (p.Val763fs) rs1840109796
NM_000264.5(PTCH1):c.2288T>C (p.Val763Ala)
NM_000264.5(PTCH1):c.2293C>G (p.Leu765Val)
NM_000264.5(PTCH1):c.2296del (p.Tyr766fs) rs2117973287
NM_000264.5(PTCH1):c.2303C>G (p.Thr768Ser) rs878853850
NM_000264.5(PTCH1):c.2305_2319del (p.Thr769_Asp773del)
NM_000264.5(PTCH1):c.2308C>G (p.Arg770Gly)
NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter) rs766313615
NM_000264.5(PTCH1):c.2308del (p.Arg770fs)
NM_000264.5(PTCH1):c.2312T>C (p.Val771Ala)
NM_000264.5(PTCH1):c.2315G>A (p.Arg772Lys) rs1840106487
NM_000264.5(PTCH1):c.2319C>A (p.Asp773Glu) rs141134542
NM_000264.5(PTCH1):c.2320G>A (p.Gly774Arg) rs2117971100
NM_000264.5(PTCH1):c.2322G>C (p.Gly774=) rs2117970840
NM_000264.5(PTCH1):c.2322dup (p.Leu775fs) rs2117970934
NM_000264.5(PTCH1):c.2324T>A (p.Leu775Gln)
NM_000264.5(PTCH1):c.2325G>C (p.Leu775=) rs765736670
NM_000264.5(PTCH1):c.2328C>G (p.Asp776Glu) rs923429610
NM_000264.5(PTCH1):c.2329C>G (p.Leu777Val)
NM_000264.5(PTCH1):c.2329C>T (p.Leu777Phe)
NM_000264.5(PTCH1):c.2332A>G (p.Thr778Ala) rs869025270
NM_000264.5(PTCH1):c.2332dup (p.Thr778fs) rs2117970002
NM_000264.5(PTCH1):c.2337C>T (p.Asp779=) rs1840103199
NM_000264.5(PTCH1):c.2338A>C (p.Ile780Leu) rs1388496324
NM_000264.5(PTCH1):c.2338A>G (p.Ile780Val) rs1388496324
NM_000264.5(PTCH1):c.2340T>C (p.Ile780=) rs1367566469
NM_000264.5(PTCH1):c.2341G>C (p.Val781Leu)
NM_000264.5(PTCH1):c.2342T>C (p.Val781Ala) rs2117968922
NM_000264.5(PTCH1):c.2342dup (p.Pro782fs) rs1060502294
NM_000264.5(PTCH1):c.2345C>T (p.Pro782Leu)
NM_000264.5(PTCH1):c.2346T>C (p.Pro782=) rs2117968482
NM_000264.5(PTCH1):c.2346del (p.Arg783fs) rs1840101155
NM_000264.5(PTCH1):c.2347C>A (p.Arg783=) rs1060502293
NM_000264.5(PTCH1):c.2347C>G (p.Arg783Gly) rs1060502293
NM_000264.5(PTCH1):c.2347C>T (p.Arg783Trp) rs1060502293
NM_000264.5(PTCH1):c.2348G>T (p.Arg783Leu) rs779296683
NM_000264.5(PTCH1):c.2352A>T (p.Glu784Asp) rs1840099623
NM_000264.5(PTCH1):c.2356A>G (p.Arg786Gly) rs2117967668
NM_000264.5(PTCH1):c.2358A>C (p.Arg786Ser)
NM_000264.5(PTCH1):c.2359G>A (p.Glu787Lys)
NM_000264.5(PTCH1):c.2359G>T (p.Glu787Ter) rs1840098608
NM_000264.5(PTCH1):c.2360A>G (p.Glu787Gly) rs1588569206
NM_000264.5(PTCH1):c.2362T>G (p.Tyr788Asp) rs1454135593
NM_000264.5(PTCH1):c.2365G>C (p.Asp789His) rs1840096887
NM_000264.5(PTCH1):c.2368T>G (p.Phe790Val) rs1840096220
NM_000264.5(PTCH1):c.2369_2370del (p.Phe790fs) rs2117966753
NM_000264.5(PTCH1):c.2370T>A (p.Phe790Leu) rs1060502300
NM_000264.5(PTCH1):c.2370del (p.Phe790fs) rs2117966753
NM_000264.5(PTCH1):c.2370dup (p.Ile791fs) rs2117966753
NM_000264.5(PTCH1):c.2372T>C (p.Ile791Thr) rs1564030910
NM_000264.5(PTCH1):c.2372_2373dup (p.Ala792fs)
NM_000264.5(PTCH1):c.2373T>C (p.Ile791=) rs2117966513
NM_000264.5(PTCH1):c.2376T>C (p.Ala792=) rs878853851
NM_000264.5(PTCH1):c.2377G>A (p.Ala793Thr) rs1554694390
NM_000264.5(PTCH1):c.2377G>C (p.Ala793Pro) rs1554694390
NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter) rs1840094606
NM_000264.5(PTCH1):c.2382A>G (p.Gln794=) rs2117965810
NM_000264.5(PTCH1):c.2382del (p.Gln794fs) rs2117965922
NM_000264.5(PTCH1):c.2383T>C (p.Phe795Leu)
NM_000264.5(PTCH1):c.2388A>C (p.Lys796Asn)
NM_000264.5(PTCH1):c.2391C>A (p.Tyr797Ter) rs778260156
NM_000264.5(PTCH1):c.2397T>C (p.Ser799=) rs1588568996
NM_000264.5(PTCH1):c.2400C>A (p.Phe800Leu) rs1840091372
NM_000264.5(PTCH1):c.2402A>G (p.Tyr801Cys)
NM_000264.5(PTCH1):c.2403C>A (p.Tyr801Ter)
NM_000264.5(PTCH1):c.2404A>G (p.Asn802Asp)
NM_000264.5(PTCH1):c.2405A>G (p.Asn802Ser) rs1840091155
NM_000264.5(PTCH1):c.2407_2408del (p.Met803fs)
NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr) rs1554694376
NM_000264.5(PTCH1):c.2412T>C (p.Tyr804=)
NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val) rs1554694372
NM_000264.5(PTCH1):c.2416G>A (p.Val806Ile) rs2117961342
NM_000264.5(PTCH1):c.2417_2424dup (p.Lys809fs) rs2117960287
NM_000264.5(PTCH1):c.2420C>T (p.Thr807Ile) rs1840089871
NM_000264.5(PTCH1):c.2421C>A (p.Thr807=)
NM_000264.5(PTCH1):c.2422C>G (p.Gln808Glu) rs1840089681
NM_000264.5(PTCH1):c.2423A>G (p.Gln808Arg)
NM_000264.5(PTCH1):c.2435A>G (p.Tyr812Cys)
NM_000264.5(PTCH1):c.2435_2438del (p.Asp811_Tyr812insTer) rs2117958655
NM_000264.5(PTCH1):c.2437C>T (p.Pro813Ser)
NM_000264.5(PTCH1):c.2438C>G (p.Pro813Arg)
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup) rs1588568813
NM_000264.5(PTCH1):c.2439G>T (p.Pro813=) rs151266988
NM_000264.5(PTCH1):c.2444_2454del (p.Ile815fs) rs2117956624
NM_000264.5(PTCH1):c.2445C>A (p.Ile815=) rs1351609452
NM_000264.5(PTCH1):c.2446C>T (p.Gln816Ter)
NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg) rs1564030731
NM_000264.5(PTCH1):c.2450A>C (p.His817Pro) rs1564030723
NM_000264.5(PTCH1):c.2450A>G (p.His817Arg) rs1564030723
NM_000264.5(PTCH1):c.2453T>A (p.Leu818Ter)
NM_000264.5(PTCH1):c.2454dup (p.Leu819fs)
NM_000264.5(PTCH1):c.2456T>C (p.Leu819Pro)
NM_000264.5(PTCH1):c.2463C>T (p.Asp821=) rs2117956030
NM_000264.5(PTCH1):c.2470A>G (p.Arg824Gly)
NM_000264.5(PTCH1):c.2471G>A (p.Arg824Lys)
NM_000264.5(PTCH1):c.2472G>A (p.Arg824=) rs2117955057
NM_000264.5(PTCH1):c.2477T>C (p.Phe826Ser) rs1174748645
NM_000264.5(PTCH1):c.2477del (p.Phe826fs) rs2117954271
NM_000264.5(PTCH1):c.2478C>G (p.Phe826Leu)
NM_000264.5(PTCH1):c.2484del (p.Asn828fs) rs2117953276
NM_000264.5(PTCH1):c.2485G>T (p.Val829Leu) rs201125580
NM_000264.5(PTCH1):c.2487G>C (p.Val829=) rs774573762
NM_000264.5(PTCH1):c.2488A>C (p.Lys830Gln)
NM_000264.5(PTCH1):c.2490G>A (p.Lys830=) rs2117952150
NM_000264.5(PTCH1):c.2492A>G (p.Tyr831Cys) rs2117951860
NM_000264.5(PTCH1):c.2493T>A (p.Tyr831Ter) rs2117951765
NM_000264.5(PTCH1):c.2494G>A (p.Val832Ile) rs1253407915
NM_000264.5(PTCH1):c.2495T>A (p.Val832Asp) rs786204167
NM_000264.5(PTCH1):c.2498T>C (p.Met833Thr) rs1060502269
NM_000264.5(PTCH1):c.2499G>A (p.Met833Ile) rs1840081126
NM_000264.5(PTCH1):c.2500T>C (p.Leu834=)
NM_000264.5(PTCH1):c.2503G>T (p.Glu835Ter) rs1588568595
NM_000264.5(PTCH1):c.2511C>A (p.Asn837Lys) rs1588568559
NM_000264.5(PTCH1):c.2511C>G (p.Asn837Lys)
NM_000264.5(PTCH1):c.2511C>T (p.Asn837=) rs1588568559
NM_000264.5(PTCH1):c.2511del (p.Asn837fs) rs2117949826
NM_000264.5(PTCH1):c.2513A>C (p.Lys838Thr) rs1220749812
NM_000264.5(PTCH1):c.2513A>T (p.Lys838Ile)
NM_000264.5(PTCH1):c.2513_2516del (p.Lys838fs) rs1588568477
NM_000264.5(PTCH1):c.2514A>G (p.Lys838=) rs149134846
NM_000264.5(PTCH1):c.2514dup (p.Gln839fs)
NM_000264.5(PTCH1):c.2515C>T (p.Gln839Ter) rs1564030530
NM_000264.5(PTCH1):c.2517G>A (p.Gln839=)
NM_000264.5(PTCH1):c.2518C>T (p.Leu840Phe)
NM_000264.5(PTCH1):c.2521C>A (p.Pro841Thr)
NM_000264.5(PTCH1):c.2527A>T (p.Met843Leu)
NM_000264.5(PTCH1):c.2530T>C (p.Trp844Arg) rs2117947928
NM_000264.5(PTCH1):c.2531G>C (p.Trp844Ser) rs2117947811
NM_000264.5(PTCH1):c.2532G>A (p.Trp844Ter)
NM_000264.5(PTCH1):c.2532G>C (p.Trp844Cys) rs1840077192
NM_000264.5(PTCH1):c.2532G>T (p.Trp844Cys) rs1840077192
NM_000264.5(PTCH1):c.2535G>A (p.Leu845=) rs1226541991
NM_000264.5(PTCH1):c.2539_2542delinsAG (p.Tyr847fs) rs863225467
NM_000264.5(PTCH1):c.2540A>G (p.Tyr847Cys) rs1352235060
NM_000264.5(PTCH1):c.2541C>T (p.Tyr847=) rs863224347
NM_000264.5(PTCH1):c.2544C>T (p.Phe848=)
NM_000264.5(PTCH1):c.2545del (p.Arg849fs) rs2117946757
NM_000264.5(PTCH1):c.2548G>C (p.Asp850His) rs41313327
NM_000264.5(PTCH1):c.2555T>C (p.Leu852Pro) rs1554694254
NM_000264.5(PTCH1):c.2558A>C (p.Gln853Pro) rs587778628
NM_000264.5(PTCH1):c.2560+12T>A
NM_000264.5(PTCH1):c.2560+15G>A rs1840072057
NM_000264.5(PTCH1):c.2560+15_2560+16insCA
NM_000264.5(PTCH1):c.2560+19C>T
NM_000264.5(PTCH1):c.2560+1G>A
NM_000264.5(PTCH1):c.2560+20T>G rs750223422
NM_000264.5(PTCH1):c.2560+7C>A rs75576651
NM_000264.5(PTCH1):c.2560+8_2560+9delinsAC rs863224348
NM_000264.5(PTCH1):c.2560+9G>T
NM_000264.5(PTCH1):c.2560+9_2560+10delinsCT rs863224349

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