|
NC_000009.11:g.(?_98204264)_(98271831_?)del
|
|
|
|
NC_000009.11:g.(?_98209194)_(98220585_?)del
|
|
|
|
NC_000009.11:g.(?_98229388)_(98231445_?)del
|
|
|
|
NC_000009.11:g.(?_98229392)_(98232219_?)del
|
|
|
|
NC_000009.11:g.(?_98237055)_(98242741_?)del
|
|
|
|
NC_000009.11:g.(?_98238306)_(98279100_?)del
|
|
|
|
NC_000009.11:g.(?_98239031)_(98279100_?)del
|
|
|
|
NC_000009.11:g.(?_98247957)_(98248166_?)del
|
|
|
|
NC_000009.12:g.(?_95446912)_(95516818_?)del
|
|
|
|
NC_000009.12:g.(?_95449059)_(95449950_?)del
|
|
|
|
NC_000009.12:g.95449841dup
|
rs2136607401
|
|
|
NC_000009.12:g.95482041_95482042insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATATTCTATTATC
|
rs2118466034
|
|
|
NM_000264.5(PTCH1):c.1002T>G (p.Tyr334Ter)
|
rs145867500
|
|
|
NM_000264.5(PTCH1):c.1006del (p.His336fs)
|
rs2118392260
|
|
|
NM_000264.5(PTCH1):c.1007_1010dup (p.Trp337Ter)
|
|
|
|
NM_000264.5(PTCH1):c.1010G>A (p.Trp337Ter)
|
|
|
|
NM_000264.5(PTCH1):c.1012C>T (p.Gln338Ter)
|
rs1841404957
|
|
|
NM_000264.5(PTCH1):c.1045_1048dup (p.Ser350fs)
|
rs2118388624
|
|
|
NM_000264.5(PTCH1):c.1047del (p.Asn349fs)
|
|
|
|
NM_000264.5(PTCH1):c.1051del (p.Thr351fs)
|
rs2118388351
|
|
|
NM_000264.5(PTCH1):c.1067+1G>T
|
rs2118387075
|
|
|
NM_000264.5(PTCH1):c.1067+2T>A
|
|
|
|
NM_000264.5(PTCH1):c.1068-2A>C
|
|
|
|
NM_000264.5(PTCH1):c.1068-2A>G
|
rs1060502271
|
|
|
NM_000264.5(PTCH1):c.1068-2A>T
|
rs1060502271
|
|
|
NM_000264.5(PTCH1):c.1081C>T (p.Gln361Ter)
|
rs199476090
|
|
|
NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter)
|
rs267606984
|
|
|
NM_000264.5(PTCH1):c.1097T>G (p.Leu366Ter)
|
rs1841329871
|
|
|
NM_000264.5(PTCH1):c.1104del (p.Lys370fs)
|
|
|
|
NM_000264.5(PTCH1):c.1120G>T (p.Glu374Ter)
|
rs144323077
|
|
|
NM_000264.5(PTCH1):c.1127del (p.Phe376fs)
|
|
|
|
NM_000264.5(PTCH1):c.1128del (p.Phe376fs)
|
rs1588605746
|
|
|
NM_000264.5(PTCH1):c.1135dup (p.Tyr379fs)
|
rs1554699216
|
|
|
NM_000264.5(PTCH1):c.1138G>T (p.Glu380Ter)
|
rs772903899
|
|
|
NM_000264.5(PTCH1):c.1148C>A (p.Ser383Ter)
|
|
|
|
NM_000264.5(PTCH1):c.1151del (p.His384fs)
|
rs1841322999
|
|
|
NM_000264.5(PTCH1):c.1155del (p.Asn386fs)
|
rs1060502297
|
|
|
NM_000264.5(PTCH1):c.1160G>A (p.Trp387Ter)
|
rs2118365442
|
|
|
NM_000264.5(PTCH1):c.1161G>A (p.Trp387Ter)
|
rs1588605485
|
|
|
NM_000264.5(PTCH1):c.1183_1187dup (p.Glu397fs)
|
rs1841317825
|
|
|
NM_000264.5(PTCH1):c.1190_1197del (p.Glu397fs)
|
rs1564053040
|
|
|
NM_000264.5(PTCH1):c.1197G>A (p.Trp399Ter)
|
|
|
|
NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter)
|
rs1588605348
|
|
|
NM_000264.5(PTCH1):c.1208_1209del (p.Tyr403fs)
|
rs1060502286
|
|
|
NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter)
|
rs1432645175
|
|
|
NM_000264.5(PTCH1):c.1224del (p.Gln409fs)
|
|
|
|
NM_000264.5(PTCH1):c.1225C>T (p.Gln409Ter)
|
rs1588603014
|
|
|
NM_000264.5(PTCH1):c.1231_1232del (p.Val411fs)
|
rs2118338822
|
|
|
NM_000264.5(PTCH1):c.1231_1232dup (p.Ala412fs)
|
|
|
|
NM_000264.5(PTCH1):c.1237C>T (p.Gln413Ter)
|
rs2118338419
|
|
|
NM_000264.5(PTCH1):c.1253del (p.Lys418fs)
|
rs2118337307
|
|
|
NM_000264.5(PTCH1):c.1261dup (p.Ser421fs)
|
rs2118336503
|
|
|
NM_000264.5(PTCH1):c.1299_1302dup (p.Ser435fs)
|
|
|
|
NM_000264.5(PTCH1):c.1303dup (p.Ser435fs)
|
rs2118332288
|
|
|
NM_000264.5(PTCH1):c.1307dup (p.Asp436fs)
|
rs1554698800
|
|
|
NM_000264.5(PTCH1):c.1308del (p.Asp436fs)
|
rs1060502295
|
|
|
NM_000264.5(PTCH1):c.1321del (p.Arg441fs)
|
|
|
|
NM_000264.5(PTCH1):c.1329del (p.Ser444fs)
|
rs864622374
|
|
|
NM_000264.5(PTCH1):c.1332_1333insAA (p.Gly445fs)
|
rs1841217203
|
|
|
NM_000264.5(PTCH1):c.1334del (p.Gly445fs)
|
rs1131690978
|
|
|
NM_000264.5(PTCH1):c.1338C>A (p.Tyr446Ter)
|
rs2118329441
|
|
|
NM_000264.5(PTCH1):c.1341dup (p.Leu448fs)
|
rs1588602354
|
|
|
NM_000264.5(PTCH1):c.1342_1345del (p.Leu448fs)
|
rs1564051237
|
|
|
NM_000264.5(PTCH1):c.1348-14_1370del
|
rs1554698613
|
|
|
NM_000264.5(PTCH1):c.1348-1G>A
|
rs1841170844
|
|
|
NM_000264.5(PTCH1):c.1348-2A>G
|
rs1064793978
|
|
|
NM_000264.5(PTCH1):c.1353_1356dup (p.Ala453fs)
|
rs1564050405
|
|
|
NM_000264.5(PTCH1):c.1355dup (p.Tyr452Ter)
|
|
|
|
NM_000264.5(PTCH1):c.1356T>A (p.Tyr452Ter)
|
|
|
|
NM_000264.5(PTCH1):c.1361_1364del (p.Ala453_Cys454insTer)
|
rs2118311257
|
|
|
NM_000264.5(PTCH1):c.1364dup (p.Thr456fs)
|
rs1588600929
|
|
|
NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter)
|
rs1131690974
|
|
|
NM_000264.5(PTCH1):c.1416_1419del (p.Gly473fs)
|
rs1564050178
|
|
|
NM_000264.5(PTCH1):c.1419_1429del (p.Val474fs)
|
rs2118306407
|
|
|
NM_000264.5(PTCH1):c.1435del (p.Leu479fs)
|
|
|
|
NM_000264.5(PTCH1):c.1450G>A (p.Gly484Arg)
|
rs1841155526
|
|
|
NM_000264.5(PTCH1):c.1459_1499del (p.Leu487fs)
|
|
|
|
NM_000264.5(PTCH1):c.1480dup (p.Ser494fs)
|
rs2118303436
|
|
|
NM_000264.5(PTCH1):c.1482del (p.Phe495fs)
|
|
|
|
NM_000264.5(PTCH1):c.1485del (p.Phe495fs)
|
rs1554698531
|
|
|
NM_000264.5(PTCH1):c.1485dup (p.Asn496Ter)
|
|
|
|
NM_000264.5(PTCH1):c.1503+1G>C
|
rs864622293
|
|
|
NM_000264.5(PTCH1):c.1504-1G>C
|
rs1057518400
|
|
|
NM_000264.5(PTCH1):c.1524TGGTGT[1] (p.509GV[1])
|
rs1841077120
|
|
|
NM_000264.5(PTCH1):c.1525G>C (p.Gly509Arg)
|
rs2118285458
|
|
|
NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp)
|
rs1060502268
|
|
|
NM_000264.5(PTCH1):c.1526G>T (p.Gly509Val)
|
rs1060502268
|
|
|
NM_000264.5(PTCH1):c.1538ATG[1] (p.Asp514del)
|
rs2118283647
|
|
|
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter)
|
rs1554698260
|
|
|
NM_000264.5(PTCH1):c.1583dup (p.Asn528fs)
|
rs1554698258
|
|
|
NM_000264.5(PTCH1):c.1602+1G>A
|
rs1060502277
|
|
|
NM_000264.5(PTCH1):c.1602+1G>T
|
rs1060502277
|
|
|
NM_000264.5(PTCH1):c.1602+3A>T
|
|
|
|
NM_000264.5(PTCH1):c.1603-1G>A
|
rs2118262541
|
|
|
NM_000264.5(PTCH1):c.1603-2A>G
|
rs1064793921
|
|
|
NM_000264.5(PTCH1):c.1615del (p.Glu539fs)
|
rs878853847
|
|
|
NM_000264.5(PTCH1):c.1624A>T (p.Lys542Ter)
|
|
|
|
NM_000264.5(PTCH1):c.1625dup (p.Arg543fs)
|
rs1588596702
|
|
|
NM_000264.5(PTCH1):c.1651dup (p.Thr551fs)
|
rs1554697928
|
|
|
NM_000264.5(PTCH1):c.1654_1655dup (p.Ile553fs)
|
rs2118255495
|
|
|
NM_000264.5(PTCH1):c.1691T>A (p.Leu564Ter)
|
rs2118251139
|
|
|
NM_000264.5(PTCH1):c.1704del (p.Ala569fs)
|
rs776154605
|
|
|
NM_000264.5(PTCH1):c.1706C>A (p.Ala569Asp)
|
rs766973191
|
|
|
NM_000264.5(PTCH1):c.1709_1721del (p.Leu570fs)
|
rs1554697839
|
|
|
NM_000264.5(PTCH1):c.1726C>T (p.Gln576Ter)
|
|
|
|
NM_000264.5(PTCH1):c.202-1G>C
|
rs2118881561
|
|
|
NM_000264.5(PTCH1):c.202-2A>C
|
rs878853849
|
|
|
NM_000264.5(PTCH1):c.202-2A>G
|
rs878853849
|
|
|
NM_000264.5(PTCH1):c.232_233del (p.Trp78fs)
|
|
|
|
NM_000264.5(PTCH1):c.233G>A (p.Trp78Ter)
|
rs1843665508
|
|
|
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter)
|
rs1554708787
|
|
|
NM_000264.5(PTCH1):c.244delinsCTTCTGAG (p.Lys82fs)
|
|
|
|
NM_000264.5(PTCH1):c.250C>T (p.Gln84Ter)
|
|
|
|
NM_000264.5(PTCH1):c.250_251del (p.Gln84fs)
|
rs1843663751
|
|
|
NM_000264.5(PTCH1):c.251_258del (p.Gln84fs)
|
rs1587693623
|
|
|
NM_000264.5(PTCH1):c.254_255del (p.Arg85fs)
|
rs1554708771
|
|
|
NM_000264.5(PTCH1):c.2561-1G>A
|
rs1131691700
|
|
|
NM_000264.5(PTCH1):c.2561-2A>G
|
rs878853852
|
|
|
NM_000264.5(PTCH1):c.2561-2A>T
|
rs878853852
|
|
|
NM_000264.5(PTCH1):c.2569del (p.Asp857fs)
|
|
|
|
NM_000264.5(PTCH1):c.2573del (p.Ala858fs)
|
rs2136689747
|
|
|
NM_000264.5(PTCH1):c.2582del (p.Ser861fs)
|
rs2136689543
|
|
|
NM_000264.5(PTCH1):c.2588G>A (p.Trp863Ter)
|
rs1839516520
|
|
|
NM_000264.5(PTCH1):c.258_259del (p.Leu87fs)
|
rs864622212
|
|
|
NM_000264.5(PTCH1):c.2590G>T (p.Glu864Ter)
|
rs2136689297
|
|
|
NM_000264.5(PTCH1):c.259_260del (p.Leu87fs)
|
rs1554708760
|
|
|
NM_000264.5(PTCH1):c.260dup (p.Leu87fs)
|
rs2118879524
|
|
|
NM_000264.5(PTCH1):c.2619C>G (p.Tyr873Ter)
|
rs1554692291
|
|
|
NM_000264.5(PTCH1):c.262_265del (p.Phe88fs)
|
rs2118879343
|
|
|
NM_000264.5(PTCH1):c.2639del (p.Gly880fs)
|
rs1554692266
|
|
|
NM_000264.5(PTCH1):c.2684dup (p.Pro896fs)
|
rs2136687071
|
|
|
NM_000264.5(PTCH1):c.2698dup (p.Ser900fs)
|
|
|
|
NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter)
|
rs1064796618
|
|
|
NM_000264.5(PTCH1):c.270_304del (p.Tyr93fs)
|
rs864622583
|
|
|
NM_000264.5(PTCH1):c.2713C>T (p.Gln905Ter)
|
rs864622088
|
|
|
NM_000264.5(PTCH1):c.2723_2724del (p.Val908fs)
|
rs1839298779
|
|
|
NM_000264.5(PTCH1):c.272_278dup (p.Tyr93Ter)
|
rs2118878946
|
|
|
NM_000264.5(PTCH1):c.2736_2742dup (p.Asn915delinsHisHisTer)
|
rs2136672811
|
|
|
NM_000264.5(PTCH1):c.2737_2741dup (p.Asn915fs)
|
|
|
|
NM_000264.5(PTCH1):c.2766C>A (p.Tyr922Ter)
|
rs1554691698
|
|
|
NM_000264.5(PTCH1):c.2773_2776delinsTAC (p.Ala925fs)
|
|
|
|
NM_000264.5(PTCH1):c.2778G>A (p.Trp926Ter)
|
|
|
|
NM_000264.5(PTCH1):c.278dup (p.Tyr93Ter)
|
rs1587693544
|
|
|
NM_000264.5(PTCH1):c.2799del (p.Tyr934fs)
|
rs863224484
|
|
|
NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer)
|
rs1554708753
|
|
|
NM_000264.5(PTCH1):c.2802T>G (p.Tyr934Ter)
|
rs1356231878
|
|
|
NM_000264.5(PTCH1):c.2812C>T (p.Gln938Ter)
|
|
|
|
NM_000264.5(PTCH1):c.2824del (p.Arg942fs)
|
|
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
|
NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter)
|
rs1587693508
|
|
|
NM_000264.5(PTCH1):c.2842_2849del (p.Trp948fs)
|
rs863224485
|
|
|
NM_000264.5(PTCH1):c.2844G>A (p.Trp948Ter)
|
rs2136670613
|
|
|
NM_000264.5(PTCH1):c.2870del (p.Pro957fs)
|
|
|
|
NM_000264.5(PTCH1):c.289_290del (p.Asn97fs)
|
rs1554708751
|
|
|
NM_000264.5(PTCH1):c.290del (p.Asn97fs)
|
rs1554708751
|
|
|
NM_000264.5(PTCH1):c.290dup (p.Asn97fs)
|
rs1554708751
|
|
|
NM_000264.5(PTCH1):c.2917C>T (p.Gln973Ter)
|
|
|
|
NM_000264.5(PTCH1):c.2931_2932insGTAGA (p.Leu978fs)
|
rs1554691423
|
|
|
NM_000264.5(PTCH1):c.2954C>G (p.Ser985Ter)
|
rs760297274
|
|
|
NM_000264.5(PTCH1):c.2954_2965del (p.Ser985_Glu989delinsTer)
|
|
|
|
NM_000264.5(PTCH1):c.2965G>T (p.Glu989Ter)
|
rs1472299295
|
|
|
NM_000264.5(PTCH1):c.296del (p.Gly99fs)
|
rs1564088181
|
|
|
NM_000264.5(PTCH1):c.2974G>T (p.Glu992Ter)
|
rs1060502278
|
|
|
NM_000264.5(PTCH1):c.3003T>A (p.Tyr1001Ter)
|
rs1060502298
|
|
|
NM_000264.5(PTCH1):c.3021_3022del (p.Ser1008fs)
|
|
|
|
NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter)
|
rs747234651
|
|
|
NM_000264.5(PTCH1):c.3027_3030del (p.Ser1008_Tyr1009insTer)
|
rs2136661234
|
|
|
NM_000264.5(PTCH1):c.3030del (p.Asn1011fs)
|
rs2136661215
|
|
|
NM_000264.5(PTCH1):c.3032del (p.Asn1011fs)
|
|
|
|
NM_000264.5(PTCH1):c.3037dup (p.Tyr1013fs)
|
|
|
|
NM_000264.5(PTCH1):c.3039C>A (p.Tyr1013Ter)
|
rs779388970
|
|
|
NM_000264.5(PTCH1):c.3042del (p.Phe1015fs)
|
rs886039540
|
|
|
NM_000264.5(PTCH1):c.3053G>A (p.Trp1018Ter)
|
rs2136660954
|
|
|
NM_000264.5(PTCH1):c.3054G>A (p.Trp1018Ter)
|
rs1839115028
|
|
|
NM_000264.5(PTCH1):c.3055G>T (p.Glu1019Ter)
|
rs2136660921
|
|
|
NM_000264.5(PTCH1):c.3058C>T (p.Gln1020Ter)
|
rs1839114207
|
|
|
NM_000264.5(PTCH1):c.3059_3062dup (p.Tyr1021Ter)
|
rs1839113498
|
|
|
NM_000264.5(PTCH1):c.3125dup (p.Cys1043fs)
|
rs1554691354
|
|
|
NM_000264.5(PTCH1):c.3129dup (p.Ala1044fs)
|
|
|
|
NM_000264.5(PTCH1):c.3139_3142del (p.Phe1046_Leu1047insTer)
|
rs1131690980
|
|
|
NM_000264.5(PTCH1):c.3139del (p.Leu1047fs)
|
rs2136659959
|
|
|
NM_000264.5(PTCH1):c.3150del (p.Trp1051fs)
|
rs1588539623
|
|
|
NM_000264.5(PTCH1):c.3151del (p.Trp1051fs)
|
|
|
|
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter)
|
rs1060502301
|
|
|
NM_000264.5(PTCH1):c.3153G>A (p.Trp1051Ter)
|
|
|
|
NM_000264.5(PTCH1):c.3160_3161insCGCTGTCTTCCTGCTGAACCCCTGGACGGCCG (p.Gly1054delinsAlaLeuSerSerCysTer)
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NM_000264.5(PTCH1):c.3168+1G>T
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rs2136659660
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NM_000264.5(PTCH1):c.3168+2T>C
|
rs786204056
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NM_000264.5(PTCH1):c.3168+5G>A
|
rs1588539525
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NM_000264.5(PTCH1):c.3184_3185del (p.Leu1062fs)
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rs2136650202
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NM_000264.5(PTCH1):c.3196G>T (p.Glu1066Ter)
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rs1838929775
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NM_000264.5(PTCH1):c.3201del (p.Phe1068fs)
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NM_000264.5(PTCH1):c.3223G>T (p.Gly1075Ter)
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NM_000264.5(PTCH1):c.3241_3245del (p.Val1081fs)
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NM_000264.5(PTCH1):c.3241_3245dup (p.Val1083fs)
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rs2136648673
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NM_000264.5(PTCH1):c.324_325del (p.Phe109fs)
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rs2118876450
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NM_000264.5(PTCH1):c.3273del (p.Gly1091_Ile1092insTer)
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NM_000264.5(PTCH1):c.3277G>A (p.Gly1093Arg)
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rs2136647822
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NM_000264.5(PTCH1):c.3283G>T (p.Glu1095Ter)
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NM_000264.5(PTCH1):c.3287dup (p.Thr1097fs)
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rs1588535416
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NM_000264.5(PTCH1):c.3306+2T>C
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|
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NM_000264.5(PTCH1):c.331del (p.Ala111fs)
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NM_000264.5(PTCH1):c.3333del (p.Asn1112fs)
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rs2136632164
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NM_000264.5(PTCH1):c.3363del (p.His1121fs)
|
rs1838661583
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NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs)
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rs1060502273
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NM_000264.5(PTCH1):c.3372del (p.Val1126fs)
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NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)
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rs878853856
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NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)
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rs1588528503
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NM_000264.5(PTCH1):c.3406G>A (p.Gly1136Arg)
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rs1838655420
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NM_000264.5(PTCH1):c.3421del (p.Ala1141fs)
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rs2136631061
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NM_000264.5(PTCH1):c.3428_3429del (p.Gly1142_Ser1143insTer)
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rs1554690411
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NM_000264.5(PTCH1):c.3441_3444del (p.Phe1147fs)
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rs2136630846
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NM_000264.5(PTCH1):c.3449+1G>A
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rs863224442
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NM_000264.5(PTCH1):c.3450-1G>A
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rs1403732379
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NM_000264.5(PTCH1):c.3450-1G>C
|
rs1403732379
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NM_000264.5(PTCH1):c.3450-2A>C
|
rs863224443
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NM_000264.5(PTCH1):c.3450-2A>G
|
rs863224443
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|
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NM_000264.5(PTCH1):c.3450-2_3483del
|
rs1588519463
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|
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NM_000264.5(PTCH1):c.3460del (p.Ala1154fs)
|
rs1060502264
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NM_000264.5(PTCH1):c.3467T>G (p.Leu1156Arg)
|
rs1838315058
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NM_000264.5(PTCH1):c.347T>A (p.Leu116Ter)
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rs1843652409
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NM_000264.5(PTCH1):c.347T>G (p.Leu116Ter)
|
rs1843652409
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NM_000264.5(PTCH1):c.3488del (p.Gly1163fs)
|
rs1564009755
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NM_000264.5(PTCH1):c.3497_3498del (p.Asn1166fs)
|
rs2136607887
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NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg)
|
rs1131690985
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|
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NM_000264.5(PTCH1):c.349A>T (p.Lys117Ter)
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rs2118875526
|
|
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NM_000264.5(PTCH1):c.3516del (p.Val1173fs)
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|
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NM_000264.5(PTCH1):c.351del (p.Ala118fs)
|
rs2118875429
|
|
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NM_000264.5(PTCH1):c.351dup (p.Ala118fs)
|
rs2118875429
|
|
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NM_000264.5(PTCH1):c.3525_3529del (p.Leu1175fs)
|
rs1838307047
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|
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NM_000264.5(PTCH1):c.3530del (p.Phe1177fs)
|
rs2136607614
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|
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NM_000264.5(PTCH1):c.3531_3534del (p.Phe1177fs)
|
rs1838305772
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NM_000264.5(PTCH1):c.3540_3543delinsTCC (p.Tyr1181fs)
|
rs1554689667
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|
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NM_000264.5(PTCH1):c.3549+2T>G
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rs1838303339
|
|
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NM_000264.5(PTCH1):c.354_363del (p.Ala119fs)
|
rs2118874752
|
|
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NM_000264.5(PTCH1):c.3550del
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rs1838244110
|
|
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NM_000264.5(PTCH1):c.376G>T (p.Glu126Ter)
|
rs2118874002
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|
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NM_000264.5(PTCH1):c.379G>T (p.Glu127Ter)
|
rs774822170
|
|
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NM_000264.5(PTCH1):c.386G>A (p.Trp129Ter)
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rs2118873472
|
|
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NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter)
|
rs1587692888
|
|
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NM_000264.5(PTCH1):c.3885del (p.Gly1296fs)
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|
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NM_000264.5(PTCH1):c.394+1G>A
|
rs1131690995
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|
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NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter)
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rs1131690986
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NM_000264.5(PTCH1):c.403_406del (p.Gly134_Arg135insTer)
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NM_000264.5(PTCH1):c.406del (p.Arg135_Val136insTer)
|
rs2118550859
|
|
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NM_000264.5(PTCH1):c.407dup (p.Ser137fs)
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rs1564063386
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|
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NM_000264.5(PTCH1):c.430del (p.Arg144fs)
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|
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NM_000264.5(PTCH1):c.431_438del (p.Arg144fs)
|
rs2118548727
|
|
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NM_000264.5(PTCH1):c.433C>T (p.Gln145Ter)
|
rs1554702186
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|
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NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter)
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rs1344258746
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|
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NM_000264.5(PTCH1):c.451del (p.Ala151fs)
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rs2118547596
|
|
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NM_000264.5(PTCH1):c.452_464del (p.Ala151fs)
|
rs1841923572
|
|
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NM_000264.5(PTCH1):c.454_455del (p.Met152fs)
|
rs1060502280
|
|
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NM_000264.5(PTCH1):c.466C>T (p.Gln156Ter)
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rs2118546196
|
|
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NM_000264.5(PTCH1):c.478C>T (p.Gln160Ter)
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|
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NM_000264.5(PTCH1):c.490G>T (p.Glu164Ter)
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|
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NM_000264.5(PTCH1):c.501_502dup (p.Asn168fs)
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rs2118543334
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|
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NM_000264.5(PTCH1):c.529C>T (p.Gln177Ter)
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rs2118540467
|
|
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NM_000264.5(PTCH1):c.554_584+1dup
|
rs2118537234
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|
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NM_000264.5(PTCH1):c.555del (p.Ser186fs)
|
rs2118538755
|
|
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NM_000264.5(PTCH1):c.573C>A (p.Tyr191Ter)
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rs1249050389
|
|
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NM_000264.5(PTCH1):c.579C>A (p.Tyr193Ter)
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rs1333346461
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|
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NM_000264.5(PTCH1):c.584G>A (p.Arg195Lys)
|
rs1554702009
|
|
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NM_000264.5(PTCH1):c.585-1G>A
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|
|
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NM_000264.5(PTCH1):c.585-1G>C
|
rs1057520590
|
|
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NM_000264.5(PTCH1):c.586C>T (p.Gln196Ter)
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|
|
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NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter)
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rs1064793922
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|
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NM_000264.5(PTCH1):c.591G>A (p.Trp197Ter)
|
rs1841597665
|
|
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NM_000264.5(PTCH1):c.594del (p.Lys198fs)
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|
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NM_000264.5(PTCH1):c.602del (p.His201fs)
|
rs1554700742
|
|
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NM_000264.5(PTCH1):c.612C>G (p.Tyr204Ter)
|
rs863224486
|
|
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NM_000264.5(PTCH1):c.615del (p.Lys205fs)
|
rs1554700720
|
|
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NM_000264.5(PTCH1):c.627del (p.Ile210fs)
|
rs1564058222
|
|
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NM_000264.5(PTCH1):c.639del (p.Gly214fs)
|
rs2118472793
|
|
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NM_000264.5(PTCH1):c.652dup (p.Gln218fs)
|
rs1564058147
|
|
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NM_000264.5(PTCH1):c.654+1G>A
|
rs2118471978
|
|
|
NM_000264.5(PTCH1):c.660_661insAA (p.Glu221fs)
|
rs2118466784
|
|
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NM_000264.5(PTCH1):c.666T>A (p.Tyr222Ter)
|
rs863224487
|
|
|
NM_000264.5(PTCH1):c.672C>A (p.Tyr224Ter)
|
rs1588614178
|
|
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NM_000264.5(PTCH1):c.680T>A (p.Leu227Ter)
|
rs1841576850
|
|
|
NM_000264.5(PTCH1):c.681_684del (p.Ile228fs)
|
rs1841576526
|
|
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NM_000264.5(PTCH1):c.702C>A (p.Cys234Ter)
|
|
|
|
NM_000264.5(PTCH1):c.707G>A (p.Trp236Ter)
|
rs1841574026
|
|
|
NM_000264.5(PTCH1):c.708G>A (p.Trp236Ter)
|
rs1060502287
|
|
|
NM_000264.5(PTCH1):c.715del (p.Ala239fs)
|
rs1131690971
|
|
|
NM_000264.5(PTCH1):c.722T>G (p.Leu241Ter)
|
rs2118461277
|
|
|
NM_000264.5(PTCH1):c.724C>T (p.Gln242Ter)
|
rs376353501
|
|
|
NM_000264.5(PTCH1):c.724_725del (p.Gln242fs)
|
rs2118460945
|
|
|
NM_000264.5(PTCH1):c.740_746+1delinsT
|
|
|
|
NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter)
|
rs1060502281
|
|
|
NM_000264.5(PTCH1):c.742dup (p.Leu248fs)
|
|
|
|
NM_000264.5(PTCH1):c.746+1G>A
|
|
|
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NM_000264.5(PTCH1):c.746+2T>G
|
rs1841568184
|
|
|
NM_000264.5(PTCH1):c.746+2dup
|
|
|
|
NM_000264.5(PTCH1):c.746del (p.Leu249fs)
|
rs2118458606
|
|
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NM_000264.5(PTCH1):c.747-1G>A
|
rs2118429101
|
|
|
NM_000264.5(PTCH1):c.758del (p.Pro253fs)
|
|
|
|
NM_000264.5(PTCH1):c.765del (p.Trp256fs)
|
rs2118427859
|
|
|
NM_000264.5(PTCH1):c.766_767del (p.Trp256fs)
|
|
|
|
NM_000264.5(PTCH1):c.767G>A (p.Trp256Ter)
|
rs1554700010
|
|
|
NM_000264.5(PTCH1):c.768G>A (p.Trp256Ter)
|
|
|
|
NM_000264.5(PTCH1):c.768del (p.Arg255_Trp256insTer)
|
rs1564055868
|
|
|
NM_000264.5(PTCH1):c.773del (p.Asn258fs)
|
|
|
|
NM_000264.5(PTCH1):c.775_778del (p.Phe259fs)
|
rs2118427012
|
|
|
NM_000264.5(PTCH1):c.807_810del (p.Lys269_Lys270insTer)
|
rs1131690969
|
|
|
NM_000264.5(PTCH1):c.811del (p.Lys270_Ile271insTer)
|
rs2118423280
|
|
|
NM_000264.5(PTCH1):c.822del (p.Val275fs)
|
rs1554699964
|
|
|
NM_000264.5(PTCH1):c.834G>A (p.Trp278Ter)
|
rs2118420718
|
|
|
NM_000264.5(PTCH1):c.867_868dup (p.Gly290fs)
|
rs2118418344
|
|
|
NM_000264.5(PTCH1):c.873C>G (p.Tyr291Ter)
|
rs1564055606
|
|
|
NM_000264.5(PTCH1):c.873del (p.Gly290_Tyr291insTer)
|
rs1564055612
|
|
|
NM_000264.5(PTCH1):c.886del (p.Cys296fs)
|
rs1131690987
|
|
|
NM_000264.5(PTCH1):c.898del (p.Ala300fs)
|
|
|
|
NM_000264.5(PTCH1):c.901_905del (p.Asp301fs)
|
|
|
|
NM_000264.5(PTCH1):c.912C>A (p.Cys304Ter)
|
rs2118414186
|
|
|
NM_000264.5(PTCH1):c.915del (p.Ala306fs)
|
rs2118413937
|
|
|
NM_000264.5(PTCH1):c.921dup (p.Ala308fs)
|
rs1554699837
|
|
|
NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter)
|
rs1564055259
|
|
|
NM_000264.5(PTCH1):c.941_944del (p.Thr314fs)
|
|
|
|
NM_000264.5(PTCH1):c.945+1G>A
|
rs863224444
|
|
|
NM_000264.5(PTCH1):c.945del (p.Lys315fs)
|
|
|
|
NM_000264.5(PTCH1):c.955_956del (p.Met319fs)
|
rs1841411687
|
|
|
NM_000264.5(PTCH1):c.961del (p.Val322fs)
|
rs1588608794
|
|
|
NM_000264.5(PTCH1):c.970_976del (p.Asn324fs)
|
rs1588608715
|
|
|
NM_001354918.2(PTCH1):c.1347+354_1347+357del
|
|
|