ClinVar Miner

List of variants in gene PTCH2 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 344
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.266-239A>G rs11573570 0.03486
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=) rs11573587 0.01447
NM_003738.5(PTCH2):c.687C>T (p.Ala229=) rs11573576 0.01288
NM_003738.5(PTCH2):c.90G>A (p.Leu30=) rs45573433 0.00945
NM_003738.5(PTCH2):c.3358-151C>G rs72883548 0.00753
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His) rs139624405 0.00701
NM_003738.5(PTCH2):c.1080G>T (p.Val360=) rs11573579 0.00649
NM_003738.5(PTCH2):c.814-289T>C rs140878257 0.00600
NM_003738.5(PTCH2):c.840T>C (p.Ser280=) rs147627670 0.00534
NM_003738.5(PTCH2):c.3115-212G>A rs11573594 0.00310
NM_003738.5(PTCH2):c.266-45C>T rs11573572 0.00287
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) rs11573598 0.00155
NM_003738.5(PTCH2):c.1425G>A (p.Ala475=) rs35851686 0.00152
NM_003738.5(PTCH2):c.1593G>A (p.Ala531=) rs11573585 0.00114
NM_003738.5(PTCH2):c.2013C>T (p.Phe671=) rs112563011 0.00108
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His) rs138588008 0.00103
NM_003738.5(PTCH2):c.2693G>A (p.Arg898His) rs143534131 0.00097
NM_003738.5(PTCH2):c.735G>C (p.Gln245His) rs138577588 0.00083
NM_003738.5(PTCH2):c.1596C>T (p.Ala532=) rs140921885 0.00066
NM_003738.5(PTCH2):c.3184G>A (p.Val1062Met) rs142187073 0.00066
NM_003738.5(PTCH2):c.1993C>T (p.Arg665Cys) rs138324984 0.00051
NM_003738.5(PTCH2):c.2679G>A (p.Thr893=) rs113617379 0.00046
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr) rs147669300 0.00037
NM_003738.5(PTCH2):c.2184C>T (p.Ser728=) rs146379791 0.00035
NM_003738.5(PTCH2):c.3189C>T (p.Thr1063=) rs143986029 0.00035
NM_003738.5(PTCH2):c.1591-10C>T rs112892676 0.00031
NM_003738.5(PTCH2):c.2420G>A (p.Arg807His) rs199959462 0.00031
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile) rs200873074 0.00028
NM_003738.5(PTCH2):c.2559C>T (p.Pro853=) rs148265788 0.00026
NM_003738.5(PTCH2):c.1507G>A (p.Val503Ile) rs147284320 0.00025
NM_003738.5(PTCH2):c.606C>T (p.Ser202=) rs61757785 0.00023
NM_003738.5(PTCH2):c.2782G>A (p.Glu928Lys) rs199998309 0.00021
NM_003738.5(PTCH2):c.2955C>T (p.Asn985=) rs188437092 0.00021
NM_003738.5(PTCH2):c.14C>T (p.Pro5Leu) rs1252822973 0.00020
NM_003738.5(PTCH2):c.526-16G>A rs367706281 0.00018
NM_003738.5(PTCH2):c.1718C>T (p.Ser573Phe) rs561039899 0.00017
NM_003738.5(PTCH2):c.2661C>T (p.His887=) rs149815763 0.00016
NM_003738.5(PTCH2):c.2901C>T (p.Ala967=) rs371861016 0.00016
NM_003738.5(PTCH2):c.2904C>T (p.Val968=) rs138668059 0.00016
NM_003738.5(PTCH2):c.1307C>T (p.Ala436Val) rs753185169 0.00013
NM_003738.5(PTCH2):c.1758C>T (p.Asp586=) rs368278021 0.00013
NM_003738.5(PTCH2):c.3183C>T (p.Pro1061=) rs201010330 0.00013
NM_003738.5(PTCH2):c.1367C>A (p.Thr456Asn) rs546170078 0.00012
NM_003738.5(PTCH2):c.2155C>T (p.Arg719Trp) rs200355030 0.00012
NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val) rs147567317 0.00011
NM_003738.5(PTCH2):c.3114+18G>A rs200966764 0.00011
NM_003738.5(PTCH2):c.1284C>T (p.Ala428=) rs200293188 0.00010
NM_003738.5(PTCH2):c.2262C>T (p.Arg754=) rs368434333 0.00010
NM_003738.5(PTCH2):c.627G>A (p.Pro209=) rs373848645 0.00010
NM_003738.5(PTCH2):c.2196G>A (p.Arg732=) rs369083877 0.00009
NM_003738.5(PTCH2):c.1563C>T (p.Ile521=) rs141511043 0.00008
NM_003738.5(PTCH2):c.2059-4G>A rs547468737 0.00007
NM_003738.5(PTCH2):c.1016A>G (p.His339Arg) rs561823980 0.00006
NM_003738.5(PTCH2):c.1110C>T (p.Asn370=) rs575126296 0.00006
NM_003738.5(PTCH2):c.1591-9G>A rs377454394 0.00006
NM_003738.5(PTCH2):c.1881T>C (p.Pro627=) rs138458854 0.00006
NM_003738.5(PTCH2):c.2059-5C>T rs199815682 0.00006
NM_003738.5(PTCH2):c.2064C>T (p.Ile688=) rs755030599 0.00006
NM_003738.5(PTCH2):c.2172T>C (p.His724=) rs372907480 0.00006
NM_003738.5(PTCH2):c.2583C>T (p.Thr861=) rs764888111 0.00006
NM_003738.5(PTCH2):c.2823G>C (p.Gly941=) rs779998161 0.00006
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro) rs80168454 0.00006
NM_003738.5(PTCH2):c.132C>G (p.Leu44=) rs778649189 0.00005
NM_003738.5(PTCH2):c.2472C>T (p.Leu824=) rs377186488 0.00005
NM_003738.5(PTCH2):c.1272C>T (p.Ser424=) rs56016752 0.00004
NM_003738.5(PTCH2):c.1372-19C>T rs372260495 0.00004
NM_003738.5(PTCH2):c.1395A>G (p.Gly465=) rs375606003 0.00004
NM_003738.5(PTCH2):c.1554C>T (p.Leu518=) rs775872062 0.00004
NM_003738.5(PTCH2):c.1591-12T>C rs757224543 0.00004
NM_003738.5(PTCH2):c.1598T>C (p.Ile533Thr) rs61751010 0.00004
NM_003738.5(PTCH2):c.1759G>A (p.Gly587Arg) rs375844056 0.00004
NM_003738.5(PTCH2):c.1790C>A (p.Thr597Asn) rs201345708 0.00004
NM_003738.5(PTCH2):c.3114+7A>T rs377379786 0.00004
NM_003738.5(PTCH2):c.455+13G>A rs369547068 0.00004
NM_003738.5(PTCH2):c.603C>G (p.Gly201=) rs201603163 0.00004
NM_003738.5(PTCH2):c.162T>C (p.His54=) rs375847993 0.00003
NM_003738.5(PTCH2):c.2097G>C (p.Leu699=) rs779189611 0.00003
NM_003738.5(PTCH2):c.2640C>T (p.Pro880=) rs560873168 0.00003
NM_003738.5(PTCH2):c.2877C>G (p.Gly959=) rs567163200 0.00003
NM_003738.5(PTCH2):c.2931C>T (p.Leu977=) rs145617280 0.00003
NM_003738.5(PTCH2):c.3471T>C (p.Thr1157=) rs1190099495 0.00003
NM_003738.5(PTCH2):c.3483C>G (p.Thr1161=) rs750066989 0.00003
NM_003738.5(PTCH2):c.1215+10G>A rs765764028 0.00002
NM_003738.5(PTCH2):c.1215+18C>T rs375884824 0.00002
NM_003738.5(PTCH2):c.1380C>T (p.Pro460=) rs752485443 0.00002
NM_003738.5(PTCH2):c.1458T>C (p.Pro486=) rs753309310 0.00002
NM_003738.5(PTCH2):c.1476C>A (p.Gly492=) rs569864866 0.00002
NM_003738.5(PTCH2):c.2070G>C (p.Leu690=) rs1225161469 0.00002
NM_003738.5(PTCH2):c.2211C>T (p.Tyr737=) rs543080218 0.00002
NM_003738.5(PTCH2):c.2695+20C>T rs745409083 0.00002
NM_003738.5(PTCH2):c.2829C>T (p.His943=) rs1012780887 0.00002
NM_003738.5(PTCH2):c.285G>A (p.Gln95=) rs765572583 0.00002
NM_003738.5(PTCH2):c.3257+14G>A rs772682205 0.00002
NM_003738.5(PTCH2):c.360C>T (p.Arg120=) rs753753033 0.00002
NM_003738.5(PTCH2):c.567C>T (p.Leu189=) rs781010476 0.00002
NM_003738.5(PTCH2):c.618C>A (p.Pro206=) rs769410634 0.00002
NM_003738.5(PTCH2):c.738C>T (p.Ala246=) rs58079936 0.00002
NM_003738.5(PTCH2):c.741C>T (p.Tyr247=) rs771872936 0.00002
NM_003738.5(PTCH2):c.1161G>A (p.Leu387=) rs759092490 0.00001
NM_003738.5(PTCH2):c.1216-10C>G rs369940240 0.00001
NM_003738.5(PTCH2):c.1221C>A (p.Ala407=) rs530613777 0.00001
NM_003738.5(PTCH2):c.1311G>A (p.Val437=) rs749955039 0.00001
NM_003738.5(PTCH2):c.1341C>T (p.Leu447=) rs776284730 0.00001
NM_003738.5(PTCH2):c.1372-15C>T rs763685949 0.00001
NM_003738.5(PTCH2):c.1372-9C>T rs1003390877 0.00001
NM_003738.5(PTCH2):c.1431C>T (p.Ala477=) rs182234912 0.00001
NM_003738.5(PTCH2):c.1493C>T (p.Thr498Met) rs755775675 0.00001
NM_003738.5(PTCH2):c.1494G>A (p.Thr498=) rs752335873 0.00001
NM_003738.5(PTCH2):c.1587A>C (p.Leu529=) rs779782928 0.00001
NM_003738.5(PTCH2):c.1709+19C>T rs1265027304 0.00001
NM_003738.5(PTCH2):c.1716C>T (p.Cys572=) rs1313592725 0.00001
NM_003738.5(PTCH2):c.1760G>A (p.Gly587Glu) rs772982125 0.00001
NM_003738.5(PTCH2):c.1770A>C (p.Pro590=) rs1279014385 0.00001
NM_003738.5(PTCH2):c.2035T>C (p.Leu679=) rs569892194 0.00001
NM_003738.5(PTCH2):c.2106C>T (p.Tyr702=) rs146389042 0.00001
NM_003738.5(PTCH2):c.2199C>T (p.Tyr733=) rs764374316 0.00001
NM_003738.5(PTCH2):c.2247C>T (p.Tyr749=) rs779837932 0.00001
NM_003738.5(PTCH2):c.2304G>A (p.Ala768=) rs756917724 0.00001
NM_003738.5(PTCH2):c.231T>C (p.Ile77=) rs770754446 0.00001
NM_003738.5(PTCH2):c.2371+18G>A rs370584384 0.00001
NM_003738.5(PTCH2):c.2562G>A (p.Glu854=) rs1355382148 0.00001
NM_003738.5(PTCH2):c.2670C>T (p.Tyr890=) rs151110219 0.00001
NM_003738.5(PTCH2):c.2697C>A (p.Ile899=) rs777596264 0.00001
NM_003738.5(PTCH2):c.2811C>T (p.Ala937=) rs375965470 0.00001
NM_003738.5(PTCH2):c.2940T>C (p.Ala980=) rs374872274 0.00001
NM_003738.5(PTCH2):c.2973C>T (p.Leu991=) rs1401932849 0.00001
NM_003738.5(PTCH2):c.2991G>A (p.Ala997=) rs756770955 0.00001
NM_003738.5(PTCH2):c.3054C>T (p.Pro1018=) rs773222322 0.00001
NM_003738.5(PTCH2):c.3087C>T (p.Gly1029=) rs753377256 0.00001
NM_003738.5(PTCH2):c.3114+8C>T rs765369976 0.00001
NM_003738.5(PTCH2):c.312G>T (p.Leu104=) rs746185871 0.00001
NM_003738.5(PTCH2):c.3257+13C>T rs201767824 0.00001
NM_003738.5(PTCH2):c.3258-19C>A rs745648260 0.00001
NM_003738.5(PTCH2):c.3345C>T (p.Gly1115=) rs552908012 0.00001
NM_003738.5(PTCH2):c.3348G>A (p.Pro1116=) rs576830052 0.00001
NM_003738.5(PTCH2):c.3357+14C>T rs765650749 0.00001
NM_003738.5(PTCH2):c.3357+8C>T rs750855839 0.00001
NM_003738.5(PTCH2):c.3358-4A>T rs750625056 0.00001
NM_003738.5(PTCH2):c.3411G>A (p.Gln1137=) rs762625084 0.00001
NM_003738.5(PTCH2):c.3417C>T (p.Gly1139=) rs747942130 0.00001
NM_003738.5(PTCH2):c.3453G>A (p.Gln1151=) rs917619041 0.00001
NM_003738.5(PTCH2):c.3606T>C (p.Thr1202=) rs139492585 0.00001
NM_003738.5(PTCH2):c.372G>A (p.Glu124=) rs1462647763 0.00001
NM_003738.5(PTCH2):c.455+8T>C rs753607924 0.00001
NM_003738.5(PTCH2):c.456-9C>T rs974138745 0.00001
NM_003738.5(PTCH2):c.48C>T (p.Pro16=) rs1241582640 0.00001
NM_003738.5(PTCH2):c.546G>A (p.Pro182=) rs547735253 0.00001
NM_003738.5(PTCH2):c.831C>T (p.His277=) rs909568880 0.00001
NM_003738.5(PTCH2):c.987C>T (p.Tyr329=) rs1338577427 0.00001
NM_001166292.2(PTCH2):c.3425+728T>C
NM_003738.5(PTCH2):c.-13C>G rs148219007
NM_003738.5(PTCH2):c.-222G>A rs11573537
NM_003738.5(PTCH2):c.1014A>G (p.Thr338=)
NM_003738.5(PTCH2):c.1041G>A (p.Gln347=) rs1557646065
NM_003738.5(PTCH2):c.1068G>A (p.Gln356=)
NM_003738.5(PTCH2):c.1080G>A (p.Val360=) rs11573579
NM_003738.5(PTCH2):c.1083+13A>G
NM_003738.5(PTCH2):c.1084-14C>T
NM_003738.5(PTCH2):c.1156A>T (p.Ile386Phe) rs775127172
NM_003738.5(PTCH2):c.1167G>A (p.Ala389=)
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003738.5(PTCH2):c.1188C>A (p.Ala396=) rs755498723
NM_003738.5(PTCH2):c.1188C>G (p.Ala396=) rs755498723
NM_003738.5(PTCH2):c.1191T>A (p.Arg397=)
NM_003738.5(PTCH2):c.1216-15C>T
NM_003738.5(PTCH2):c.1216-5C>G
NM_003738.5(PTCH2):c.1216-5C>T rs375527740
NM_003738.5(PTCH2):c.1216-7C>T
NM_003738.5(PTCH2):c.1233G>A (p.Val411=) rs1653317387
NM_003738.5(PTCH2):c.1254C>T (p.Cys418=)
NM_003738.5(PTCH2):c.1275G>T (p.Val425=)
NM_003738.5(PTCH2):c.1308G>A (p.Ala436=)
NM_003738.5(PTCH2):c.1335C>A (p.Ala445=)
NM_003738.5(PTCH2):c.1341C>A (p.Leu447=)
NM_003738.5(PTCH2):c.1348A>G (p.Thr450Ala)
NM_003738.5(PTCH2):c.1371+13T>G
NM_003738.5(PTCH2):c.1371+19del
NM_003738.5(PTCH2):c.1372-18G>A
NM_003738.5(PTCH2):c.1398C>T (p.Ile466=)
NM_003738.5(PTCH2):c.1401C>T (p.Gly467=)
NM_003738.5(PTCH2):c.1410C>T (p.Asp470=)
NM_003738.5(PTCH2):c.1422G>A (p.Leu474=)
NM_003738.5(PTCH2):c.1464+10T>C
NM_003738.5(PTCH2):c.1464+10T>G
NM_003738.5(PTCH2):c.1464+14C>T
NM_003738.5(PTCH2):c.1464+16C>T
NM_003738.5(PTCH2):c.1464+19G>C
NM_003738.5(PTCH2):c.1464+8_1464+17del rs935055233
NM_003738.5(PTCH2):c.1477G>A (p.Glu493Lys) rs11573581
NM_003738.5(PTCH2):c.1506C>G (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1506C>T (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1512C>G (p.Leu504=)
NM_003738.5(PTCH2):c.1527C>T (p.Asn509=)
NM_003738.5(PTCH2):c.1566T>C (p.Pro522=)
NM_003738.5(PTCH2):c.1569G>T (p.Ala523=) rs143390610
NM_003738.5(PTCH2):c.1590+10C>T rs1277004089
NM_003738.5(PTCH2):c.1590+11T>C
NM_003738.5(PTCH2):c.1590+11T>G
NM_003738.5(PTCH2):c.1590+34G>A rs11573583
NM_003738.5(PTCH2):c.1590+8C>T
NM_003738.5(PTCH2):c.1591-15C>T
NM_003738.5(PTCH2):c.1591-5C>A
NM_003738.5(PTCH2):c.1591-5C>G
NM_003738.5(PTCH2):c.1591-6C>A
NM_003738.5(PTCH2):c.1591-8T>A
NM_003738.5(PTCH2):c.1593G>T (p.Ala531=)
NM_003738.5(PTCH2):c.1614C>A (p.Thr538=) rs1478954517
NM_003738.5(PTCH2):c.1614C>T (p.Thr538=)
NM_003738.5(PTCH2):c.1709+10G>A
NM_003738.5(PTCH2):c.1709+12G>A rs369351238
NM_003738.5(PTCH2):c.1709+12G>C
NM_003738.5(PTCH2):c.1710-15C>G
NM_003738.5(PTCH2):c.1710-16T>A
NM_003738.5(PTCH2):c.1713C>G (p.Pro571=) rs1573646751
NM_003738.5(PTCH2):c.1761G>A (p.Gly587=)
NM_003738.5(PTCH2):c.1761G>T (p.Gly587=)
NM_003738.5(PTCH2):c.1785C>T (p.His595=) rs905892751
NM_003738.5(PTCH2):c.1839G>A (p.Val613=) rs2148875942
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn) rs11573586
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr) rs11573586
NM_003738.5(PTCH2):c.1950G>A (p.Glu650=)
NM_003738.5(PTCH2):c.195C>T (p.Ala65=)
NM_003738.5(PTCH2):c.2018G>T (p.Arg673Leu) rs760548568
NM_003738.5(PTCH2):c.2034G>A (p.Pro678=) rs767584655
NM_003738.5(PTCH2):c.204C>T (p.Ala68=)
NM_003738.5(PTCH2):c.2058+11G>A rs1268729354
NM_003738.5(PTCH2):c.2166G>A (p.Lys722=) rs1229094126
NM_003738.5(PTCH2):c.21C>G (p.Leu7=)
NM_003738.5(PTCH2):c.2206C>T (p.Leu736=)
NM_003738.5(PTCH2):c.2208G>A (p.Leu736=)
NM_003738.5(PTCH2):c.2214G>A (p.Glu738=)
NM_003738.5(PTCH2):c.2217G>A (p.Val739=)
NM_003738.5(PTCH2):c.2371+19G>A
NM_003738.5(PTCH2):c.2372-14C>T rs1243405696
NM_003738.5(PTCH2):c.2376C>T (p.Ile792=)
NM_003738.5(PTCH2):c.2427G>A (p.Ser809=)
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=) rs111471526
NM_003738.5(PTCH2):c.2472C>A (p.Leu824=) rs377186488
NM_003738.5(PTCH2):c.2508C>T (p.Phe836=) rs1267534771
NM_003738.5(PTCH2):c.2514+12G>C
NM_003738.5(PTCH2):c.2514+14T>C
NM_003738.5(PTCH2):c.2580G>A (p.Leu860=)
NM_003738.5(PTCH2):c.2592G>A (p.Val864=) rs764151806
NM_003738.5(PTCH2):c.2616A>C (p.Ala872=) rs2148874682
NM_003738.5(PTCH2):c.2640C>A (p.Pro880=) rs560873168
NM_003738.5(PTCH2):c.2646T>C (p.Pro882=) rs2148874628
NM_003738.5(PTCH2):c.2673C>T (p.Asp891=) rs370224493
NM_003738.5(PTCH2):c.2695+10G>A
NM_003738.5(PTCH2):c.2695+10G>T rs1400035505
NM_003738.5(PTCH2):c.2695+11G>A
NM_003738.5(PTCH2):c.2695+11G>C rs373843383
NM_003738.5(PTCH2):c.2695+11G>T
NM_003738.5(PTCH2):c.2695+8T>G
NM_003738.5(PTCH2):c.2695+9del
NM_003738.5(PTCH2):c.2696-13C>T
NM_003738.5(PTCH2):c.2696-9C>T
NM_003738.5(PTCH2):c.2700G>A (p.Pro900=) rs200437527
NM_003738.5(PTCH2):c.2700G>T (p.Pro900=) rs200437527
NM_003738.5(PTCH2):c.2745T>A (p.Arg915=)
NM_003738.5(PTCH2):c.2802C>T (p.Cys934=)
NM_003738.5(PTCH2):c.2841C>T (p.Ser947=)
NM_003738.5(PTCH2):c.2850C>A (p.Pro950=) rs1553164952
NM_003738.5(PTCH2):c.2877C>A (p.Gly959=)
NM_003738.5(PTCH2):c.2901C>G (p.Ala967=) rs371861016
NM_003738.5(PTCH2):c.2922C>T (p.Cys974=) rs1195101516
NM_003738.5(PTCH2):c.2952C>T (p.Leu984=) rs755598335
NM_003738.5(PTCH2):c.2976+14G>A
NM_003738.5(PTCH2):c.3042G>C (p.Leu1014=) rs371828594
NM_003738.5(PTCH2):c.3042G>T (p.Leu1014=)
NM_003738.5(PTCH2):c.3106G>A (p.Val1036Met)
NM_003738.5(PTCH2):c.3114+17C>T
NM_003738.5(PTCH2):c.3114+20G>A
NM_003738.5(PTCH2):c.3114+9G>A rs181508787
NM_003738.5(PTCH2):c.3114+9G>C rs181508787
NM_003738.5(PTCH2):c.3115-14C>T
NM_003738.5(PTCH2):c.3147G>T (p.Leu1049=)
NM_003738.5(PTCH2):c.3153C>T (p.Ala1051=)
NM_003738.5(PTCH2):c.3174A>G (p.Thr1058=)
NM_003738.5(PTCH2):c.3246C>T (p.Asp1082=)
NM_003738.5(PTCH2):c.3257+15G>A
NM_003738.5(PTCH2):c.3258-16C>G rs778795322
NM_003738.5(PTCH2):c.3258-17C>G
NM_003738.5(PTCH2):c.3270G>C (p.Ala1090=) rs752886480
NM_003738.5(PTCH2):c.3273G>A (p.Ala1091=)
NM_003738.5(PTCH2):c.3291C>G (p.Leu1097=) rs770373024
NM_003738.5(PTCH2):c.3294G>A (p.Leu1098=)
NM_003738.5(PTCH2):c.3312C>G (p.Leu1104=) rs771498770
NM_003738.5(PTCH2):c.3339C>A (p.Ile1113=)
NM_003738.5(PTCH2):c.3357+15G>A rs377239356
NM_003738.5(PTCH2):c.3357+15G>C
NM_003738.5(PTCH2):c.3357+16G>A rs1652977886
NM_003738.5(PTCH2):c.3358-11_3358-9dup rs1240860649
NM_003738.5(PTCH2):c.3358-140C>T rs11573597
NM_003738.5(PTCH2):c.3358-14G>T rs2148871348
NM_003738.5(PTCH2):c.3456C>T (p.Ser1152=) rs1573638322
NM_003738.5(PTCH2):c.345G>A (p.Leu115=)
NM_003738.5(PTCH2):c.3468G>A (p.Val1156=)
NM_003738.5(PTCH2):c.3477C>T (p.Ser1159=)
NM_003738.5(PTCH2):c.3504C>A (p.Pro1168=) rs372865581
NM_003738.5(PTCH2):c.3504C>G (p.Pro1168=) rs372865581
NM_003738.5(PTCH2):c.354C>A (p.Thr118=)
NM_003738.5(PTCH2):c.354C>G (p.Thr118=) rs758146648
NM_003738.5(PTCH2):c.354C>T (p.Thr118=)
NM_003738.5(PTCH2):c.3564T>A (p.Thr1188=) rs1652948807
NM_003738.5(PTCH2):c.375C>T (p.Asn125=)
NM_003738.5(PTCH2):c.387C>G (p.Pro129=)
NM_003738.5(PTCH2):c.435C>T (p.Val145=)
NM_003738.5(PTCH2):c.450T>C (p.Tyr150=) rs138866688
NM_003738.5(PTCH2):c.455+16C>A
NM_003738.5(PTCH2):c.455+16C>T
NM_003738.5(PTCH2):c.456-18T>C
NM_003738.5(PTCH2):c.456-37T>G rs2295999
NM_003738.5(PTCH2):c.525+11T>C
NM_003738.5(PTCH2):c.526-16G>C
NM_003738.5(PTCH2):c.526-17C>T
NM_003738.5(PTCH2):c.526-8C>T
NM_003738.5(PTCH2):c.549C>T (p.Cys183=)
NM_003738.5(PTCH2):c.561C>T (p.Thr187=) rs1302639760
NM_003738.5(PTCH2):c.564C>G (p.Pro188=) rs1328109024
NM_003738.5(PTCH2):c.564C>T (p.Pro188=)
NM_003738.5(PTCH2):c.618-6C>T rs924268501
NM_003738.5(PTCH2):c.621C>T (p.Gly207=)
NM_003738.5(PTCH2):c.72+14G>A rs202169933
NM_003738.5(PTCH2):c.72+8G>A rs1654014801
NM_003738.5(PTCH2):c.73-10T>C rs2148886533
NM_003738.5(PTCH2):c.73-19C>G
NM_003738.5(PTCH2):c.777C>T (p.His259=)
NM_003738.5(PTCH2):c.783A>G (p.Pro261=) rs1553165531
NM_003738.5(PTCH2):c.801T>C (p.His267=) rs2148879093
NM_003738.5(PTCH2):c.813+10A>C
NM_003738.5(PTCH2):c.813+17del
NM_003738.5(PTCH2):c.813+264T>G rs188791161
NM_003738.5(PTCH2):c.814-18C>T
NM_003738.5(PTCH2):c.814-4C>A
NM_003738.5(PTCH2):c.843G>A (p.Gly281=)
NM_003738.5(PTCH2):c.891G>A (p.Leu297=) rs2148878347
NM_003738.5(PTCH2):c.909C>T (p.Ala303=) rs1653356113
NM_003738.5(PTCH2):c.933G>C (p.Leu311=) rs966857361
NM_003738.5(PTCH2):c.936-10C>T
NM_003738.5(PTCH2):c.936-12C>T
NM_003738.5(PTCH2):c.936-17T>C
NM_003738.5(PTCH2):c.936-18C>T
NM_003738.5(PTCH2):c.936-4C>T rs1553165423
NM_003738.5(PTCH2):c.957C>T (p.Thr319=)

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