NM_000264.5(PTCH1):c.4255C>T (p.Arg1419Trp)
|
rs139942632
|
0.00006
|
NM_000264.5(PTCH1):c.4076G>A (p.Ser1359Asn)
|
rs745451899
|
0.00004
|
NM_000264.5(PTCH1):c.208G>A (p.Ala70Thr)
|
rs753960393
|
0.00003
|
NM_000264.5(PTCH1):c.2792C>G (p.Pro931Arg)
|
rs772928587
|
0.00003
|
NM_000264.5(PTCH1):c.4144C>T (p.His1382Tyr)
|
rs377484697
|
0.00003
|
NM_000264.5(PTCH1):c.4181G>A (p.Arg1394Gln)
|
rs748812637
|
0.00003
|
NM_000264.5(PTCH1):c.4186G>A (p.Gly1396Arg)
|
rs1060502276
|
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.1067G>A (p.Ser356Asn)
|
rs764579762
|
0.00002
|
NM_000264.5(PTCH1):c.1069G>A (p.Ala357Thr)
|
rs779204091
|
0.00002
|
NM_000264.5(PTCH1):c.388G>A (p.Val130Met)
|
rs746339472
|
0.00002
|
NM_000264.5(PTCH1):c.3965C>G (p.Ala1322Gly)
|
rs1054532927
|
0.00002
|
NM_000264.5(PTCH1):c.4129G>A (p.Val1377Met)
|
rs745337014
|
0.00002
|
NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu)
|
rs766849993
|
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.1001A>G (p.Tyr334Cys)
|
rs1841406856
|
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.1109A>G (p.Lys370Arg)
|
rs768024586
|
0.00001
|
NM_000264.5(PTCH1):c.1116G>T (p.Met372Ile)
|
rs1841328115
|
0.00001
|
NM_000264.5(PTCH1):c.1200G>T (p.Gln400His)
|
rs1277111019
|
0.00001
|
NM_000264.5(PTCH1):c.1216G>A (p.Val406Met)
|
rs756949381
|
0.00001
|
NM_000264.5(PTCH1):c.1246A>G (p.Thr416Ala)
|
rs952195482
|
0.00001
|
NM_000264.5(PTCH1):c.1274C>T (p.Thr425Met)
|
rs768956985
|
0.00001
|
NM_000264.5(PTCH1):c.1277C>T (p.Thr426Ile)
|
rs755787454
|
0.00001
|
NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr)
|
rs778455544
|
0.00001
|
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val)
|
rs759078774
|
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.226C>T (p.Pro76Ser)
|
rs997156828
|
0.00001
|
NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg)
|
rs1427672162
|
0.00001
|
NM_000264.5(PTCH1):c.2704-3T>C
|
rs1208489068
|
0.00001
|
NM_000264.5(PTCH1):c.2740A>G (p.Ile914Val)
|
rs1441750517
|
0.00001
|
NM_000264.5(PTCH1):c.283C>G (p.Gln95Glu)
|
rs1587693508
|
0.00001
|
NM_000264.5(PTCH1):c.2851G>A (p.Asp951Asn)
|
rs1588544328
|
0.00001
|
NM_000264.5(PTCH1):c.2954C>T (p.Ser985Leu)
|
rs760297274
|
0.00001
|
NM_000264.5(PTCH1):c.2962G>T (p.Val988Leu)
|
rs1257244317
|
0.00001
|
NM_000264.5(PTCH1):c.2995A>C (p.Ser999Arg)
|
rs1181905241
|
0.00001
|
NM_000264.5(PTCH1):c.3032A>G (p.Asn1011Ser)
|
rs780425276
|
0.00001
|
NM_000264.5(PTCH1):c.3041C>T (p.Pro1014Leu)
|
rs1404012576
|
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.322A>G (p.Ile108Val)
|
rs1338490449
|
0.00001
|
NM_000264.5(PTCH1):c.3295C>G (p.His1099Asp)
|
rs1426410745
|
0.00001
|
NM_000264.5(PTCH1):c.3331A>G (p.Lys1111Glu)
|
rs1838665681
|
0.00001
|
NM_000264.5(PTCH1):c.337G>T (p.Ala113Ser)
|
rs1843653911
|
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.3592C>T (p.Pro1198Ser)
|
rs1280830531
|
0.00001
|
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg)
|
rs1564008885
|
0.00001
|
NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn)
|
rs747181820
|
0.00001
|
NM_000264.5(PTCH1):c.3737G>A (p.Gly1246Asp)
|
rs374011978
|
0.00001
|
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu)
|
rs375857496
|
0.00001
|
NM_000264.5(PTCH1):c.3804+6T>G
|
rs1298248967
|
0.00001
|
NM_000264.5(PTCH1):c.3804T>C (p.Thr1268=)
|
rs951501624
|
0.00001
|
NM_000264.5(PTCH1):c.3841A>G (p.Asn1281Asp)
|
rs1838051752
|
0.00001
|
NM_000264.5(PTCH1):c.3875C>T (p.Ser1292Phe)
|
rs760216958
|
0.00001
|
NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu)
|
rs786204201
|
0.00001
|
NM_000264.5(PTCH1):c.3916C>A (p.Pro1306Thr)
|
rs1169961504
|
0.00001
|
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser)
|
rs1057524645
|
0.00001
|
NM_000264.5(PTCH1):c.395-1G>A
|
rs368869806
|
0.00001
|
NM_000264.5(PTCH1):c.395-8T>A
|
rs755013836
|
0.00001
|
NM_000264.5(PTCH1):c.3984A>C (p.Glu1328Asp)
|
rs1394160194
|
0.00001
|
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)
|
rs978722722
|
0.00001
|
NM_000264.5(PTCH1):c.4055C>G (p.Pro1352Arg)
|
rs1022984391
|
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.4138G>A (p.Ala1380Thr)
|
rs111481152
|
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.4178C>G (p.Pro1393Arg)
|
rs1368334005
|
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.4237C>T (p.His1413Tyr)
|
rs772886108
|
0.00001
|
NM_000264.5(PTCH1):c.4289T>C (p.Ile1430Thr)
|
rs556722778
|
0.00001
|
NM_000264.5(PTCH1):c.4291G>A (p.Glu1431Lys)
|
rs766876016
|
0.00001
|
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)
|
rs587778632
|
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.584+6G>A
|
rs1282207631
|
0.00001
|
NM_000264.5(PTCH1):c.608G>A (p.Cys203Tyr)
|
rs1261920867
|
0.00001
|
NM_000264.5(PTCH1):c.637A>G (p.Thr213Ala)
|
rs1588614533
|
0.00001
|
NM_000264.5(PTCH1):c.652C>G (p.Gln218Glu)
|
rs1841591077
|
0.00001
|
NM_000264.5(PTCH1):c.655A>G (p.Ile219Val)
|
rs1841580631
|
0.00001
|
NM_000264.5(PTCH1):c.847A>T (p.Asn283Tyr)
|
rs1588610162
|
0.00001
|
NM_000264.5(PTCH1):c.907G>C (p.Asp303His)
|
rs1172719429
|
0.00001
|
NM_000264.5(PTCH1):c.944A>C (p.Lys315Thr)
|
rs746517321
|
0.00001
|
NM_000264.5(PTCH1):c.949C>G (p.Leu317Val)
|
rs1380199153
|
0.00001
|
NC_000009.11:g.(?_98226337)_(98248166_?)dup
|
|
|
NC_000009.11:g.(?_98231023)_(98232223_?)del
|
|
|
NC_000009.11:g.(?_98268679)_(98279100_?)dup
|
|
|
NC_000009.12:g.(?_95446912)_(95508361_?)dup
|
|
|
NM_000264.3(PTCH1):c.3168+763_4244del
|
|
|
NM_000264.5(PTCH1):c.1001A>T (p.Tyr334Phe)
|
|
|
NM_000264.5(PTCH1):c.1003A>C (p.Met335Leu)
|
|
|
NM_000264.5(PTCH1):c.1005G>T (p.Met335Ile)
|
|
|
NM_000264.5(PTCH1):c.1008C>G (p.His336Gln)
|
rs1841405475
|
|
NM_000264.5(PTCH1):c.1009T>A (p.Trp337Arg)
|
rs2118391966
|
|
NM_000264.5(PTCH1):c.1013A>G (p.Gln338Arg)
|
|
|
NM_000264.5(PTCH1):c.1015G>A (p.Glu339Lys)
|
|
|
NM_000264.5(PTCH1):c.1018G>C (p.Glu340Gln)
|
|
|
NM_000264.5(PTCH1):c.1021T>A (p.Leu341Met)
|
rs780256480
|
|
NM_000264.5(PTCH1):c.1027G>T (p.Val343Leu)
|
rs1564054554
|
|
NM_000264.5(PTCH1):c.1030G>T (p.Gly344Cys)
|
rs2118390055
|
|
NM_000264.5(PTCH1):c.1033G>A (p.Gly345Ser)
|
|
|
NM_000264.5(PTCH1):c.1036A>G (p.Thr346Ala)
|
rs1841400368
|
|
NM_000264.5(PTCH1):c.1037C>T (p.Thr346Ile)
|
rs1841400047
|
|
NM_000264.5(PTCH1):c.1039G>T (p.Val347Phe)
|
rs1060502279
|
|
NM_000264.5(PTCH1):c.1046A>G (p.Asn349Ser)
|
|
|
NM_000264.5(PTCH1):c.1048A>T (p.Ser350Cys)
|
rs2118388571
|
|
NM_000264.5(PTCH1):c.1056A>G (p.Gly352=)
|
rs1841396845
|
|
NM_000264.5(PTCH1):c.1060C>T (p.Leu354Phe)
|
rs1588608286
|
|
NM_000264.5(PTCH1):c.1067+5G>T
|
rs372657547
|
|
NM_000264.5(PTCH1):c.1067+6C>G
|
rs1256541464
|
|
NM_000264.5(PTCH1):c.1067+6C>T
|
rs1256541464
|
|
NM_000264.5(PTCH1):c.1070C>T (p.Ala357Val)
|
rs1841334350
|
|
NM_000264.5(PTCH1):c.1076C>G (p.Ala359Gly)
|
|
|
NM_000264.5(PTCH1):c.1076C>T (p.Ala359Val)
|
rs1302357924
|
|
NM_000264.5(PTCH1):c.1079T>C (p.Leu360Pro)
|
rs2118368178
|
|
NM_000264.5(PTCH1):c.1088T>C (p.Met363Thr)
|
|
|
NM_000264.5(PTCH1):c.1089G>A (p.Met363Ile)
|
rs1841330687
|
|
NM_000264.5(PTCH1):c.1092C>G (p.Phe364Leu)
|
rs2118367698
|
|
NM_000264.5(PTCH1):c.1109A>T (p.Lys370Met)
|
rs768024586
|
|
NM_000264.5(PTCH1):c.1114A>G (p.Met372Val)
|
|
|
NM_000264.5(PTCH1):c.1120G>C (p.Glu374Gln)
|
|
|
NM_000264.5(PTCH1):c.1122G>T (p.Glu374Asp)
|
|
|
NM_000264.5(PTCH1):c.1124A>T (p.His375Leu)
|
|
|
NM_000264.5(PTCH1):c.1129A>G (p.Lys377Glu)
|
rs1588605721
|
|
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.1136A>G (p.Tyr379Cys)
|
rs1841324703
|
|
NM_000264.5(PTCH1):c.1144G>A (p.Val382Ile)
|
rs1841323482
|
|
NM_000264.5(PTCH1):c.1150C>G (p.His384Asp)
|
rs2118365949
|
|
NM_000264.5(PTCH1):c.1150C>T (p.His384Tyr)
|
|
|
NM_000264.5(PTCH1):c.1151A>C (p.His384Pro)
|
rs1220687550
|
|
NM_000264.5(PTCH1):c.1152C>G (p.His384Gln)
|
rs200246772
|
|
NM_000264.5(PTCH1):c.1154T>C (p.Ile385Thr)
|
rs2118365611
|
|
NM_000264.5(PTCH1):c.1157A>G (p.Asn386Ser)
|
rs1564053157
|
|
NM_000264.5(PTCH1):c.1161G>C (p.Trp387Cys)
|
|
|
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys)
|
rs1841320331
|
|
NM_000264.5(PTCH1):c.1168G>C (p.Asp390His)
|
rs1588605451
|
|
NM_000264.5(PTCH1):c.1172A>G (p.Lys391Arg)
|
rs1554699163
|
|
NM_000264.5(PTCH1):c.1178C>A (p.Ala393Glu)
|
rs202020837
|
|
NM_000264.5(PTCH1):c.1181C>T (p.Ala394Val)
|
rs2118364801
|
|
NM_000264.5(PTCH1):c.1208A>G (p.Tyr403Cys)
|
rs1588605278
|
|
NM_000264.5(PTCH1):c.1213G>A (p.Glu405Lys)
|
|
|
NM_000264.5(PTCH1):c.1215+4A>T
|
|
|
NM_000264.5(PTCH1):c.1219G>T (p.Val407Phe)
|
|
|
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del)
|
rs1489690325
|
|
NM_000264.5(PTCH1):c.1226A>G (p.Gln409Arg)
|
rs1841233191
|
|
NM_000264.5(PTCH1):c.1228A>C (p.Ser410Arg)
|
|
|
NM_000264.5(PTCH1):c.1231G>A (p.Val411Ile)
|
|
|
NM_000264.5(PTCH1):c.1241A>G (p.Asn414Ser)
|
rs2118338120
|
|
NM_000264.5(PTCH1):c.1250A>G (p.Gln417Arg)
|
rs1060502270
|
|
NM_000264.5(PTCH1):c.1253A>T (p.Lys418Met)
|
|
|
NM_000264.5(PTCH1):c.1255G>T (p.Val419Leu)
|
rs202136156
|
|
NM_000264.5(PTCH1):c.1258C>T (p.Leu420Phe)
|
rs1841229239
|
|
NM_000264.5(PTCH1):c.1262C>T (p.Ser421Phe)
|
rs1285775586
|
|
NM_000264.5(PTCH1):c.1267A>G (p.Thr423Ala)
|
|
|
NM_000264.5(PTCH1):c.1268C>G (p.Thr423Ser)
|
rs1841228090
|
|
NM_000264.5(PTCH1):c.1268C>T (p.Thr423Ile)
|
rs1841228090
|
|
NM_000264.5(PTCH1):c.1271C>G (p.Thr424Ser)
|
|
|
NM_000264.5(PTCH1):c.1273A>G (p.Thr425Ala)
|
|
|
NM_000264.5(PTCH1):c.1276A>G (p.Thr426Ala)
|
|
|
NM_000264.5(PTCH1):c.1276A>T (p.Thr426Ser)
|
|
|
NM_000264.5(PTCH1):c.1283A>G (p.Asp428Gly)
|
rs1554698835
|
|
NM_000264.5(PTCH1):c.1283A>T (p.Asp428Val)
|
rs1554698835
|
|
NM_000264.5(PTCH1):c.1285G>T (p.Asp429Tyr)
|
rs377546733
|
|
NM_000264.5(PTCH1):c.1286A>G (p.Asp429Gly)
|
rs1588602719
|
|
NM_000264.5(PTCH1):c.1291C>G (p.Leu431Val)
|
rs1416185684
|
|
NM_000264.5(PTCH1):c.1292T>C (p.Leu431Pro)
|
rs1564051512
|
|
NM_000264.5(PTCH1):c.1295A>C (p.Lys432Thr)
|
rs1841223979
|
|
NM_000264.5(PTCH1):c.1295A>G (p.Lys432Arg)
|
rs1841223979
|
|
NM_000264.5(PTCH1):c.1296A>C (p.Lys432Asn)
|
|
|
NM_000264.5(PTCH1):c.1296A>T (p.Lys432Asn)
|
rs1564051490
|
|
NM_000264.5(PTCH1):c.1298C>T (p.Ser433Phe)
|
|
|
NM_000264.5(PTCH1):c.1300T>C (p.Phe434Leu)
|
rs2118332463
|
|
NM_000264.5(PTCH1):c.1301T>C (p.Phe434Ser)
|
rs1841222850
|
|
NM_000264.5(PTCH1):c.1302C>A (p.Phe434Leu)
|
|
|
NM_000264.5(PTCH1):c.1304C>G (p.Ser435Cys)
|
rs2118332232
|
|
NM_000264.5(PTCH1):c.1307_1308delinsCA (p.Asp436Ala)
|
|
|
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>T (p.Ser438Ile)
|
|
|
NM_000264.5(PTCH1):c.1314T>A (p.Ser438Arg)
|
rs1588602538
|
|
NM_000264.5(PTCH1):c.1321C>T (p.Arg441Cys)
|
|
|
NM_000264.5(PTCH1):c.1322G>C (p.Arg441Pro)
|
rs767273237
|
|
NM_000264.5(PTCH1):c.1324G>C (p.Val442Leu)
|
|
|
NM_000264.5(PTCH1):c.1327G>T (p.Ala443Ser)
|
rs2118330345
|
|
NM_000264.5(PTCH1):c.1328C>G (p.Ala443Gly)
|
rs878853845
|
|
NM_000264.5(PTCH1):c.1328C>T (p.Ala443Val)
|
rs878853845
|
|
NM_000264.5(PTCH1):c.1331G>A (p.Ser444Asn)
|
rs1588602411
|
|
NM_000264.5(PTCH1):c.1332C>A (p.Ser444Arg)
|
rs373930674
|
|
NM_000264.5(PTCH1):c.1333G>A (p.Gly445Ser)
|
rs2118329828
|
|
NM_000264.5(PTCH1):c.1334G>A (p.Gly445Asp)
|
rs2118329688
|
|
NM_000264.5(PTCH1):c.1337A>C (p.Tyr446Ser)
|
rs2118329512
|
|
NM_000264.5(PTCH1):c.1337A>G (p.Tyr446Cys)
|
rs2118329512
|
|
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val)
|
rs537871675
|
|
NM_000264.5(PTCH1):c.1342C>T (p.Leu448Phe)
|
|
|
NM_000264.5(PTCH1):c.1345_1347del (p.Met449del)
|
rs1554698774
|
|
NM_000264.5(PTCH1):c.1346T>G (p.Met449Arg)
|
rs1841214843
|
|
NM_000264.5(PTCH1):c.1347+6G>A
|
rs372655486
|
|
NM_000264.5(PTCH1):c.1347+6G>C
|
|
|
NM_000264.5(PTCH1):c.1347+6G>T
|
rs372655486
|
|
NM_000264.5(PTCH1):c.1351G>C (p.Ala451Pro)
|
|
|
NM_000264.5(PTCH1):c.1355A>G (p.Tyr452Cys)
|
rs1255345516
|
|
NM_000264.5(PTCH1):c.1366A>C (p.Thr456Pro)
|
rs1841168008
|
|
NM_000264.5(PTCH1):c.1370T>A (p.Met457Lys)
|
|
|
NM_000264.5(PTCH1):c.1370T>G (p.Met457Arg)
|
rs2118310654
|
|
NM_000264.5(PTCH1):c.1375C>G (p.Arg459Gly)
|
|
|
NM_000264.5(PTCH1):c.1378T>C (p.Trp460Arg)
|
rs1841166322
|
|
NM_000264.5(PTCH1):c.1384T>A (p.Cys462Ser)
|
rs1588600865
|
|
NM_000264.5(PTCH1):c.1384T>C (p.Cys462Arg)
|
|
|
NM_000264.5(PTCH1):c.1384T>G (p.Cys462Gly)
|
|
|
NM_000264.5(PTCH1):c.1391A>T (p.Lys464Met)
|
|
|
NM_000264.5(PTCH1):c.1400G>T (p.Gly467Val)
|
|
|
NM_000264.5(PTCH1):c.1405G>A (p.Val469Met)
|
rs1438523462
|
|
NM_000264.5(PTCH1):c.1408G>A (p.Gly470Arg)
|
rs1564050210
|
|
NM_000264.5(PTCH1):c.1409G>T (p.Gly470Val)
|
|
|
NM_000264.5(PTCH1):c.1411C>G (p.Leu471Val)
|
|
|
NM_000264.5(PTCH1):c.1414G>A (p.Ala472Thr)
|
rs899465701
|
|
NM_000264.5(PTCH1):c.1414G>T (p.Ala472Ser)
|
rs899465701
|
|
NM_000264.5(PTCH1):c.1418G>A (p.Gly473Asp)
|
rs1841159429
|
|
NM_000264.5(PTCH1):c.1433C>T (p.Ala478Val)
|
|
|
NM_000264.5(PTCH1):c.1435C>G (p.Leu479Val)
|
|
|
NM_000264.5(PTCH1):c.1445C>T (p.Ala482Val)
|
|
|
NM_000264.5(PTCH1):c.1465T>G (p.Ser489Ala)
|
rs2118304226
|
|
NM_000264.5(PTCH1):c.1474G>A (p.Gly492Arg)
|
rs2118303660
|
|
NM_000264.5(PTCH1):c.1480T>G (p.Ser494Ala)
|
rs1057515719
|
|
NM_000264.5(PTCH1):c.1481C>G (p.Ser494Cys)
|
|
|
NM_000264.5(PTCH1):c.1481C>T (p.Ser494Phe)
|
|
|
NM_000264.5(PTCH1):c.1483T>G (p.Phe495Val)
|
|
|
NM_000264.5(PTCH1):c.1487_1488delinsTA (p.Asn496Ile)
|
rs2118303008
|
|
NM_000264.5(PTCH1):c.1492G>A (p.Ala498Thr)
|
rs1841150573
|
|
NM_000264.5(PTCH1):c.1496C>A (p.Thr499Lys)
|
rs1298115628
|
|
NM_000264.5(PTCH1):c.1503+17T>G
|
|
|
NM_000264.5(PTCH1):c.1503+3A>G
|
rs878853846
|
|
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=)
|
rs1085307511
|
|
NM_000264.5(PTCH1):c.1503G>C (p.Gln501His)
|
rs1085307511
|
|
NM_000264.5(PTCH1):c.1503G>T (p.Gln501His)
|
rs1085307511
|
|
NM_000264.5(PTCH1):c.1504-3T>C
|
rs1588598721
|
|
NM_000264.5(PTCH1):c.1508T>G (p.Leu503Trp)
|
rs1841078928
|
|
NM_000264.5(PTCH1):c.1516C>T (p.Leu506Phe)
|
|
|
NM_000264.5(PTCH1):c.1537G>A (p.Asp513Asn)
|
rs1588598595
|
|
NM_000264.5(PTCH1):c.1538A>T (p.Asp513Val)
|
rs1564048907
|
|
NM_000264.5(PTCH1):c.1541A>G (p.Asp514Gly)
|
|
|
NM_000264.5(PTCH1):c.1543G>A (p.Val515Ile)
|
rs2118283531
|
|
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.1550T>C (p.Leu517Pro)
|
|
|
NM_000264.5(PTCH1):c.1554G>A (p.Leu518=)
|
rs1841075494
|
|
NM_000264.5(PTCH1):c.1555_1556delinsTA (p.Ala519Tyr)
|
rs1554698275
|
|
NM_000264.5(PTCH1):c.1562C>T (p.Ala521Val)
|
rs755139183
|
|
NM_000264.5(PTCH1):c.1566C>G (p.Phe522Leu)
|
rs2118281892
|
|
NM_000264.5(PTCH1):c.1567A>G (p.Ser523Gly)
|
rs2118281828
|
|
NM_000264.5(PTCH1):c.1571A>C (p.Glu524Ala)
|
rs2118281472
|
|
NM_000264.5(PTCH1):c.1573A>G (p.Thr525Ala)
|
|
|
NM_000264.5(PTCH1):c.1577G>A (p.Gly526Glu)
|
rs1841074166
|
|
NM_000264.5(PTCH1):c.1583A>G (p.Asn528Ser)
|
rs1841073512
|
|
NM_000264.5(PTCH1):c.1585A>G (p.Lys529Glu)
|
rs780434261
|
|
NM_000264.5(PTCH1):c.1589G>A (p.Arg530Lys)
|
rs1841073027
|
|
NM_000264.5(PTCH1):c.1598T>C (p.Phe533Ser)
|
rs1318015818
|
|
NM_000264.5(PTCH1):c.1600G>A (p.Glu534Lys)
|
rs1323512738
|
|
NM_000264.5(PTCH1):c.1605C>G (p.Asp535Glu)
|
|
|
NM_000264.5(PTCH1):c.1610C>T (p.Thr537Ile)
|
rs2118261336
|
|
NM_000264.5(PTCH1):c.1612G>A (p.Gly538Arg)
|
rs1347882326
|
|
NM_000264.5(PTCH1):c.1612G>C (p.Gly538Arg)
|
|
|
NM_000264.5(PTCH1):c.1615G>C (p.Glu539Gln)
|
rs2118260596
|
|
NM_000264.5(PTCH1):c.1617G>T (p.Glu539Asp)
|
rs1221665069
|
|
NM_000264.5(PTCH1):c.1619G>A (p.Cys540Tyr)
|
|
|
NM_000264.5(PTCH1):c.1619G>T (p.Cys540Phe)
|
|
|
NM_000264.5(PTCH1):c.161G>A (p.Ser54Asn)
|
|
|
NM_000264.5(PTCH1):c.1624A>C (p.Lys542Gln)
|
|
|
NM_000264.5(PTCH1):c.1630A>G (p.Thr544Ala)
|
rs1841014826
|
|
NM_000264.5(PTCH1):c.1631C>T (p.Thr544Ile)
|
rs1841014632
|
|
NM_000264.5(PTCH1):c.1636G>A (p.Ala546Thr)
|
|
|
NM_000264.5(PTCH1):c.1637C>G (p.Ala546Gly)
|
|
|
NM_000264.5(PTCH1):c.163T>C (p.Tyr55His)
|
rs1843889465
|
|
NM_000264.5(PTCH1):c.1640G>C (p.Ser547Thr)
|
rs1564047095
|
|
NM_000264.5(PTCH1):c.1640G>T (p.Ser547Ile)
|
rs1564047095
|
|
NM_000264.5(PTCH1):c.1642G>T (p.Val548Leu)
|
|
|
NM_000264.5(PTCH1):c.164A>G (p.Tyr55Cys)
|
rs1205081001
|
|
NM_000264.5(PTCH1):c.1652C>A (p.Thr551Lys)
|
|
|
NM_000264.5(PTCH1):c.1652C>G (p.Thr551Arg)
|
rs863224649
|
|
NM_000264.5(PTCH1):c.1652C>T (p.Thr551Met)
|
rs863224649
|
|
NM_000264.5(PTCH1):c.1654T>G (p.Ser552Ala)
|
rs1841012358
|
|
NM_000264.5(PTCH1):c.1657A>G (p.Ile553Val)
|
|
|
NM_000264.5(PTCH1):c.1660A>T (p.Ser554Cys)
|
rs1060502282
|
|
NM_000264.5(PTCH1):c.1661G>C (p.Ser554Thr)
|
rs148367880
|
|
NM_000264.5(PTCH1):c.166T>C (p.Cys56Arg)
|
|
|
NM_000264.5(PTCH1):c.1672G>A (p.Ala558Thr)
|
rs2118253278
|
|
NM_000264.5(PTCH1):c.1673C>T (p.Ala558Val)
|
|
|
NM_000264.5(PTCH1):c.1676T>C (p.Phe559Ser)
|
|
|
NM_000264.5(PTCH1):c.1678T>C (p.Phe560Leu)
|
|
|
NM_000264.5(PTCH1):c.1679T>C (p.Phe560Ser)
|
rs1564046809
|
|
NM_000264.5(PTCH1):c.167G>A (p.Cys56Tyr)
|
|
|
NM_000264.5(PTCH1):c.1681A>T (p.Met561Leu)
|
|
|
NM_000264.5(PTCH1):c.1682T>C (p.Met561Thr)
|
|
|
NM_000264.5(PTCH1):c.1683G>A (p.Met561Ile)
|
rs1841007617
|
|
NM_000264.5(PTCH1):c.1687G>A (p.Ala563Thr)
|
rs146616780
|
|
NM_000264.5(PTCH1):c.1695C>G (p.Ile565Met)
|
rs1564046738
|
|
NM_000264.5(PTCH1):c.1699A>G (p.Ile567Val)
|
rs200504753
|
|
NM_000264.5(PTCH1):c.169G>A (p.Asp57Asn)
|
|
|
NM_000264.5(PTCH1):c.1705G>A (p.Ala569Thr)
|
rs753240797
|
|
NM_000264.5(PTCH1):c.1706C>G (p.Ala569Gly)
|
|
|
NM_000264.5(PTCH1):c.1706C>T (p.Ala569Val)
|
|
|
NM_000264.5(PTCH1):c.1708C>G (p.Leu570Val)
|
rs1841004985
|
|
NM_000264.5(PTCH1):c.1714G>A (p.Ala572Thr)
|
|
|
NM_000264.5(PTCH1):c.1714G>T (p.Ala572Ser)
|
rs1588596119
|
|
NM_000264.5(PTCH1):c.1715C>T (p.Ala572Val)
|
rs1485556285
|
|
NM_000264.5(PTCH1):c.1719C>G (p.Phe573Leu)
|
|
|
NM_000264.5(PTCH1):c.171C>A (p.Asp57Glu)
|
rs1485701312
|
|
NM_000264.5(PTCH1):c.171C>G (p.Asp57Glu)
|
rs1485701312
|
|
NM_000264.5(PTCH1):c.1721C>T (p.Ser574Phe)
|
rs1841002219
|
|
NM_000264.5(PTCH1):c.1728+3G>A
|
|
|
NM_000264.5(PTCH1):c.1728+3G>C
|
rs1588596061
|
|
NM_000264.5(PTCH1):c.1728+6C>A
|
rs761805788
|
|
NM_000264.5(PTCH1):c.1728G>T (p.Gln576His)
|
rs1841001917
|
|
NM_000264.5(PTCH1):c.172G>A (p.Ala58Thr)
|
rs1249138008
|
|
NM_000264.5(PTCH1):c.173C>G (p.Ala58Gly)
|
rs1587700281
|
|
NM_000264.5(PTCH1):c.173C>T (p.Ala58Val)
|
rs1587700281
|
|
NM_000264.5(PTCH1):c.182C>T (p.Ala61Val)
|
|
|
NM_000264.5(PTCH1):c.184C>G (p.Leu62Val)
|
rs1843886204
|
|
NM_000264.5(PTCH1):c.187G>A (p.Glu63Lys)
|
rs781768965
|
|
NM_000264.5(PTCH1):c.187G>C (p.Glu63Gln)
|
rs781768965
|
|
NM_000264.5(PTCH1):c.189G>C (p.Glu63Asp)
|
rs1587700210
|
|
NM_000264.5(PTCH1):c.189G>T (p.Glu63Asp)
|
rs1587700210
|
|
NM_000264.5(PTCH1):c.190C>G (p.Gln64Glu)
|
|
|
NM_000264.5(PTCH1):c.192G>C (p.Gln64His)
|
rs1843885224
|
|
NM_000264.5(PTCH1):c.192G>T (p.Gln64His)
|
|
|
NM_000264.5(PTCH1):c.194T>C (p.Ile65Thr)
|
rs1843885007
|
|
NM_000264.5(PTCH1):c.197C>A (p.Ser66Tyr)
|
rs1025299062
|
|
NM_000264.5(PTCH1):c.200A>C (p.Lys67Thr)
|
rs1843883983
|
|
NM_000264.5(PTCH1):c.201+2_201+3dup
|
rs2118906154
|
|
NM_000264.5(PTCH1):c.201+3G>A
|
rs1394306522
|
|
NM_000264.5(PTCH1):c.201+3G>T
|
rs1394306522
|
|
NM_000264.5(PTCH1):c.201+5A>G
|
rs1843883183
|
|
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val)
|
rs764137082
|
|
NM_000264.5(PTCH1):c.211A>T (p.Thr71Ser)
|
|
|
NM_000264.5(PTCH1):c.214G>A (p.Gly72Ser)
|
|
|
NM_000264.5(PTCH1):c.218G>A (p.Arg73Gln)
|
|
|
NM_000264.5(PTCH1):c.223G>A (p.Ala75Thr)
|
|
|
NM_000264.5(PTCH1):c.224C>T (p.Ala75Val)
|
|
|
NM_000264.5(PTCH1):c.226C>A (p.Pro76Thr)
|
rs997156828
|
|
NM_000264.5(PTCH1):c.229C>G (p.Leu77Val)
|
|
|
NM_000264.5(PTCH1):c.234G>T (p.Trp78Cys)
|
rs1554708787
|
|
NM_000264.5(PTCH1):c.235C>A (p.Leu79Met)
|
rs1564088372
|
|
NM_000264.5(PTCH1):c.235C>G (p.Leu79Val)
|
|
|
NM_000264.5(PTCH1):c.241G>A (p.Ala81Thr)
|
rs2118880380
|
|
NM_000264.5(PTCH1):c.242C>G (p.Ala81Gly)
|
rs1843664597
|
|
NM_000264.5(PTCH1):c.245A>G (p.Lys82Arg)
|
rs1587693690
|
|
NM_000264.5(PTCH1):c.250C>G (p.Gln84Glu)
|
|
|
NM_000264.5(PTCH1):c.253A>G (p.Arg85Gly)
|
rs1554708772
|
|
NM_000264.5(PTCH1):c.2572G>A (p.Ala858Thr)
|
rs1703756604
|
|
NM_000264.5(PTCH1):c.2572G>T (p.Ala858Ser)
|
rs1703756604
|
|
NM_000264.5(PTCH1):c.2573C>T (p.Ala858Val)
|
|
|
NM_000264.5(PTCH1):c.2582G>A (p.Ser861Asn)
|
rs2136689511
|
|
NM_000264.5(PTCH1):c.2589G>T (p.Trp863Cys)
|
rs1277861627
|
|
NM_000264.5(PTCH1):c.2594C>G (p.Thr865Ser)
|
rs1839515437
|
|
NM_000264.5(PTCH1):c.2597G>A (p.Gly866Glu)
|
rs863224651
|
|
NM_000264.5(PTCH1):c.259_264del (p.Leu87_Phe88del)
|
rs1060502296
|
|
NM_000264.5(PTCH1):c.2605A>G (p.Met869Val)
|
rs2136689015
|
|
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.2615A>C (p.Asn872Thr)
|
rs769029578
|
|
NM_000264.5(PTCH1):c.2617T>C (p.Tyr873His)
|
rs2136688723
|
|
NM_000264.5(PTCH1):c.2618A>G (p.Tyr873Cys)
|
rs1839512647
|
|
NM_000264.5(PTCH1):c.2620A>G (p.Lys874Glu)
|
rs2136688658
|
|
NM_000264.5(PTCH1):c.2622G>T (p.Lys874Asn)
|
|
|
NM_000264.5(PTCH1):c.2634C>G (p.Asp878Glu)
|
rs771732591
|
|
NM_000264.5(PTCH1):c.2641G>A (p.Val881Ile)
|
|
|
NM_000264.5(PTCH1):c.2642T>C (p.Val881Ala)
|
rs1839509519
|
|
NM_000264.5(PTCH1):c.2651A>C (p.Tyr884Ser)
|
|
|
NM_000264.5(PTCH1):c.2651A>G (p.Tyr884Cys)
|
rs2136687938
|
|
NM_000264.5(PTCH1):c.2665C>G (p.Gln889Glu)
|
rs1839507201
|
|
NM_000264.5(PTCH1):c.2667A>T (p.Gln889His)
|
rs777777450
|
|
NM_000264.5(PTCH1):c.2669C>A (p.Thr890Asn)
|
|
|
NM_000264.5(PTCH1):c.2669C>T (p.Thr890Ile)
|
|
|
NM_000264.5(PTCH1):c.266A>G (p.Lys89Arg)
|
rs1843661629
|
|
NM_000264.5(PTCH1):c.267A>C (p.Lys89Asn)
|
|
|
NM_000264.5(PTCH1):c.2684A>C (p.Lys895Thr)
|
rs1839503876
|
|
NM_000264.5(PTCH1):c.2687C>T (p.Pro896Leu)
|
rs1839503471
|
|
NM_000264.5(PTCH1):c.2690T>G (p.Ile897Ser)
|
|
|
NM_000264.5(PTCH1):c.2692G>C (p.Asp898His)
|
|
|
NM_000264.5(PTCH1):c.2697C>G (p.Ile899Met)
|
rs1588551373
|
|
NM_000264.5(PTCH1):c.2701C>A (p.Gln901Lys)
|
|
|
NM_000264.5(PTCH1):c.2703+4C>T
|
rs1839501465
|
|
NM_000264.5(PTCH1):c.2703+6C>G
|
rs956716678
|
|
NM_000264.5(PTCH1):c.2703+6C>T
|
rs956716678
|
|
NM_000264.5(PTCH1):c.2704T>C (p.Leu902=)
|
rs1348603148
|
|
NM_000264.5(PTCH1):c.2707A>G (p.Thr903Ala)
|
|
|
NM_000264.5(PTCH1):c.2708C>G (p.Thr903Ser)
|
rs1564021882
|
|
NM_000264.5(PTCH1):c.2710A>C (p.Lys904Gln)
|
rs2136673392
|
|
NM_000264.5(PTCH1):c.2712_2714del (p.Gln905del)
|
|
|
NM_000264.5(PTCH1):c.2713C>A (p.Gln905Lys)
|
rs864622088
|
|
NM_000264.5(PTCH1):c.2716C>T (p.Arg906Cys)
|
rs1588545099
|
|
NM_000264.5(PTCH1):c.2725G>A (p.Asp909Asn)
|
rs1588545054
|
|
NM_000264.5(PTCH1):c.2725G>C (p.Asp909His)
|
rs1588545054
|
|
NM_000264.5(PTCH1):c.2729C>G (p.Ala910Gly)
|
|
|
NM_000264.5(PTCH1):c.272G>C (p.Gly91Ala)
|
|
|
NM_000264.5(PTCH1):c.2732A>T (p.Asp911Val)
|
rs1839297206
|
|
NM_000264.5(PTCH1):c.2733T>A (p.Asp911Glu)
|
rs1839296987
|
|
NM_000264.5(PTCH1):c.2747C>T (p.Pro916Leu)
|
rs1588544970
|
|
NM_000264.5(PTCH1):c.2752G>A (p.Ala918Thr)
|
rs2136672620
|
|
NM_000264.5(PTCH1):c.2763C>G (p.Ile921Met)
|
rs1564021738
|
|
NM_000264.5(PTCH1):c.2765A>C (p.Tyr922Ser)
|
rs2136672306
|
|
NM_000264.5(PTCH1):c.2770A>T (p.Thr924Ser)
|
|
|
NM_000264.5(PTCH1):c.2772G>A (p.Thr924=)
|
rs1554691694
|
|
NM_000264.5(PTCH1):c.277T>C (p.Tyr93His)
|
|
|
NM_000264.5(PTCH1):c.2782A>T (p.Ser928Cys)
|
rs786204224
|
|
NM_000264.5(PTCH1):c.2783G>C (p.Ser928Thr)
|
rs1554691690
|
|
NM_000264.5(PTCH1):c.278A>G (p.Tyr93Cys)
|
rs1564088256
|
|
NM_000264.5(PTCH1):c.2790C>A (p.Asp930Glu)
|
|
|
NM_000264.5(PTCH1):c.2790C>G (p.Asp930Glu)
|
rs1839290937
|
|
NM_000264.5(PTCH1):c.2798C>T (p.Ala933Val)
|
rs768558478
|
|
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.280A>G (p.Ile94Val)
|
rs1843660253
|
|
NM_000264.5(PTCH1):c.2810C>T (p.Ser937Phe)
|
rs1839284772
|
|
NM_000264.5(PTCH1):c.2812C>G (p.Gln938Glu)
|
rs778810550
|
|
NM_000264.5(PTCH1):c.2814G>C (p.Gln938His)
|
rs587780534
|
|
NM_000264.5(PTCH1):c.2818A>G (p.Asn940Asp)
|
rs1564021422
|
|
NM_000264.5(PTCH1):c.2819A>G (p.Asn940Ser)
|
rs749406453
|
|
NM_000264.5(PTCH1):c.2823C>G (p.Ile941Met)
|
rs1839283096
|
|
NM_000264.5(PTCH1):c.2824C>G (p.Arg942Gly)
|
rs756465236
|
|
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.2827C>T (p.Pro943Ser)
|
|
|
NM_000264.5(PTCH1):c.2830C>T (p.His944Tyr)
|
rs1588544426
|
|
NM_000264.5(PTCH1):c.2837_2838delinsAG (p.Pro946Gln)
|
|
|
NM_000264.5(PTCH1):c.2842T>C (p.Trp948Arg)
|
|
|
NM_000264.5(PTCH1):c.2845G>T (p.Val949Phe)
|
|
|
NM_000264.5(PTCH1):c.2851G>T (p.Asp951Tyr)
|
rs1588544328
|
|
NM_000264.5(PTCH1):c.2853C>G (p.Asp951Glu)
|
|
|
NM_000264.5(PTCH1):c.2863T>C (p.Tyr955His)
|
rs2136670259
|
|
NM_000264.5(PTCH1):c.2864A>T (p.Tyr955Phe)
|
rs1839276876
|
|
NM_000264.5(PTCH1):c.2869C>G (p.Pro957Ala)
|
rs1839275609
|
|
NM_000264.5(PTCH1):c.2869C>T (p.Pro957Ser)
|
rs1839275609
|
|
NM_000264.5(PTCH1):c.286A>C (p.Lys96Gln)
|
|
|
NM_000264.5(PTCH1):c.286A>G (p.Lys96Glu)
|
rs532713234
|
|
NM_000264.5(PTCH1):c.2870C>G (p.Pro957Arg)
|
rs1376533047
|
|
NM_000264.5(PTCH1):c.2879G>C (p.Arg960Thr)
|
|
|
NM_000264.5(PTCH1):c.2881C>T (p.Leu961=)
|
rs1839273856
|
|
NM_000264.5(PTCH1):c.2886_2887insCTA (p.Arg962_Ile963insLeu)
|
rs2136669790
|
|
NM_000264.5(PTCH1):c.2887+4A>G
|
rs1588544193
|
|
NM_000264.5(PTCH1):c.2887+4_2887+7del
|
rs2136669708
|
|
NM_000264.5(PTCH1):c.2889C>G (p.Ile963Met)
|
rs878853853
|
|
NM_000264.5(PTCH1):c.2890C>A (p.Pro964Thr)
|
rs1839141749
|
|
NM_000264.5(PTCH1):c.2890C>G (p.Pro964Ala)
|
rs1839141749
|
|
NM_000264.5(PTCH1):c.2897C>G (p.Ala966Gly)
|
|
|
NM_000264.5(PTCH1):c.2902C>T (p.Pro968Ser)
|
|
|
NM_000264.5(PTCH1):c.2907C>G (p.Ile969Met)
|
rs748318700
|
|
NM_000264.5(PTCH1):c.2914G>C (p.Ala972Pro)
|
rs2136662633
|
|
NM_000264.5(PTCH1):c.2915C>G (p.Ala972Gly)
|
|
|
NM_000264.5(PTCH1):c.2919G>T (p.Gln973His)
|
rs1564019804
|
|
NM_000264.5(PTCH1):c.2928C>G (p.Phe976Leu)
|
rs1588540820
|
|
NM_000264.5(PTCH1):c.292T>G (p.Cys98Gly)
|
|
|
NM_000264.5(PTCH1):c.2933T>C (p.Leu978Pro)
|
rs863224652
|
|
NM_000264.5(PTCH1):c.2935A>C (p.Asn979His)
|
rs1588540767
|
|
NM_000264.5(PTCH1):c.2936A>T (p.Asn979Ile)
|
|
|
NM_000264.5(PTCH1):c.2940C>T (p.Gly980=)
|
|
|
NM_000264.5(PTCH1):c.2943G>C (p.Leu981Phe)
|
|
|
NM_000264.5(PTCH1):c.2944C>G (p.Arg982Gly)
|
rs867973996
|
|
NM_000264.5(PTCH1):c.2944C>T (p.Arg982Trp)
|
|
|
NM_000264.5(PTCH1):c.2950A>T (p.Thr984Ser)
|
rs1839130173
|
|
NM_000264.5(PTCH1):c.2962G>A (p.Val988Met)
|
|
|
NM_000264.5(PTCH1):c.296G>A (p.Gly99Asp)
|
rs753884837
|
|
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.2972T>C (p.Ile991Thr)
|
|
|
NM_000264.5(PTCH1):c.2978A>G (p.Lys993Arg)
|
rs2136661892
|
|
NM_000264.5(PTCH1):c.2980G>A (p.Val994Ile)
|
rs1588540545
|
|
NM_000264.5(PTCH1):c.2984G>A (p.Arg995Lys)
|
rs1839126241
|
|
NM_000264.5(PTCH1):c.2987_2988delinsAT (p.Thr996Asn)
|
rs2136661772
|
|
NM_000264.5(PTCH1):c.2993G>A (p.Cys998Tyr)
|
rs1839124943
|
|
NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)
|
|
|
NM_000264.5(PTCH1):c.3000C>G (p.Asn1000Lys)
|
rs2136661651
|
|
NM_000264.5(PTCH1):c.3001T>C (p.Tyr1001His)
|
|
|
NM_000264.5(PTCH1):c.3002A>G (p.Tyr1001Cys)
|
rs1839124423
|
|
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val)
|
rs864622620
|
|
NM_000264.5(PTCH1):c.3011T>G (p.Leu1004Arg)
|
rs1564019538
|
|
NM_000264.5(PTCH1):c.3014G>A (p.Gly1005Glu)
|
rs1839122259
|
|
NM_000264.5(PTCH1):c.3014G>T (p.Gly1005Val)
|
|
|
NM_000264.5(PTCH1):c.3017T>C (p.Leu1006Pro)
|
rs1839121774
|
|
NM_000264.5(PTCH1):c.3023G>A (p.Ser1008Asn)
|
rs1286123273
|
|
NM_000264.5(PTCH1):c.3023G>T (p.Ser1008Ile)
|
rs1286123273
|
|
NM_000264.5(PTCH1):c.3038A>G (p.Tyr1013Cys)
|
|
|
NM_000264.5(PTCH1):c.3040C>G (p.Pro1014Ala)
|
rs1588540255
|
|
NM_000264.5(PTCH1):c.3040C>T (p.Pro1014Ser)
|
rs1588540255
|
|
NM_000264.5(PTCH1):c.3051_3053del (p.Phe1017_Trp1018delinsLeu)
|
|
|
NM_000264.5(PTCH1):c.3052T>G (p.Trp1018Gly)
|
|
|
NM_000264.5(PTCH1):c.3059_3082del (p.Gln1020_Trp1027del)
|
rs2136660602
|
|
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val)
|
rs1003711941
|
|
NM_000264.5(PTCH1):c.3067G>T (p.Gly1023Cys)
|
rs752317944
|
|
NM_000264.5(PTCH1):c.3068G>C (p.Gly1023Ala)
|
rs1588540060
|
|
NM_000264.5(PTCH1):c.3073C>T (p.Arg1025Cys)
|
rs1839109856
|
|
NM_000264.5(PTCH1):c.3077A>G (p.His1026Arg)
|
rs763031827
|
|
NM_000264.5(PTCH1):c.3078C>A (p.His1026Gln)
|
rs2136660617
|
|
NM_000264.5(PTCH1):c.307G>C (p.Val103Leu)
|
|
|
NM_000264.5(PTCH1):c.3103G>T (p.Val1035Leu)
|
rs1839103824
|
|
NM_000264.5(PTCH1):c.3113G>A (p.Cys1038Tyr)
|
|
|
NM_000264.5(PTCH1):c.3116C>T (p.Thr1039Ile)
|
rs2136660189
|
|
NM_000264.5(PTCH1):c.3125T>C (p.Val1042Ala)
|
rs1839101189
|
|
NM_000264.5(PTCH1):c.3125T>G (p.Val1042Gly)
|
|
|
NM_000264.5(PTCH1):c.3127T>G (p.Cys1043Gly)
|
|
|
NM_000264.5(PTCH1):c.3133G>C (p.Val1045Leu)
|
|
|
NM_000264.5(PTCH1):c.3136T>A (p.Phe1046Ile)
|
rs1564019097
|
|
NM_000264.5(PTCH1):c.3137T>G (p.Phe1046Cys)
|
rs1839099591
|
|
NM_000264.5(PTCH1):c.3138C>A (p.Phe1046Leu)
|
|
|
NM_000264.5(PTCH1):c.3139C>A (p.Leu1047Ile)
|
rs1053698119
|
|
NM_000264.5(PTCH1):c.3147C>G (p.Asn1049Lys)
|
rs1588539644
|
|
NM_000264.5(PTCH1):c.3151T>G (p.Trp1051Gly)
|
rs1564019039
|
|
NM_000264.5(PTCH1):c.3160G>A (p.Gly1054Arg)
|
rs2136659721
|
|
NM_000264.5(PTCH1):c.3161G>A (p.Gly1054Glu)
|
|
|
NM_000264.5(PTCH1):c.3162G>T (p.Gly1054=)
|
rs1588539563
|
|
NM_000264.5(PTCH1):c.3168+6T>A
|
rs1839094345
|
|
NM_000264.5(PTCH1):c.3169G>A (p.Val1057Met)
|
rs1838934517
|
|
NM_000264.5(PTCH1):c.3173T>C (p.Met1058Thr)
|
|
|
NM_000264.5(PTCH1):c.3190A>G (p.Thr1064Ala)
|
rs1838931276
|
|
NM_000264.5(PTCH1):c.319C>T (p.Leu107Phe)
|
rs2118876683
|
|
NM_000264.5(PTCH1):c.3204C>G (p.Phe1068Leu)
|
rs762419846
|
|
NM_000264.5(PTCH1):c.3205G>A (p.Gly1069Ser)
|
rs2136649648
|
|
NM_000264.5(PTCH1):c.3206G>T (p.Gly1069Val)
|
rs1588535858
|
|
NM_000264.5(PTCH1):c.3209T>G (p.Met1070Arg)
|
rs2136649542
|
|
NM_000264.5(PTCH1):c.3210G>A (p.Met1070Ile)
|
|
|
NM_000264.5(PTCH1):c.3221T>C (p.Ile1074Thr)
|
|
|
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg)
|
rs1838926237
|
|
NM_000264.5(PTCH1):c.3224G>T (p.Gly1075Val)
|
|
|
NM_000264.5(PTCH1):c.3232C>T (p.Leu1078Phe)
|
|
|
NM_000264.5(PTCH1):c.3233T>C (p.Leu1078Pro)
|
rs1554691033
|
|
NM_000264.5(PTCH1):c.3237T>A (p.Ser1079Arg)
|
rs1838925156
|
|
NM_000264.5(PTCH1):c.323T>C (p.Ile108Thr)
|
rs2118876529
|
|
NM_000264.5(PTCH1):c.3245C>A (p.Pro1082His)
|
rs2136648648
|
|
NM_000264.5(PTCH1):c.3245C>G (p.Pro1082Arg)
|
|
|
NM_000264.5(PTCH1):c.3250G>T (p.Val1084Phe)
|
rs1838922991
|
|
NM_000264.5(PTCH1):c.3255C>G (p.Ile1085Met)
|
|
|
NM_000264.5(PTCH1):c.3256C>A (p.Leu1086Met)
|
|
|
NM_000264.5(PTCH1):c.3256C>G (p.Leu1086Val)
|
rs777291938
|
|
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.3263C>T (p.Ala1088Val)
|
rs1838920838
|
|
NM_000264.5(PTCH1):c.3268G>T (p.Val1090Phe)
|
|
|
NM_000264.5(PTCH1):c.326T>C (p.Phe109Ser)
|
rs1587693269
|
|
NM_000264.5(PTCH1):c.326T>G (p.Phe109Cys)
|
rs1587693269
|
|
NM_000264.5(PTCH1):c.3274A>G (p.Ile1092Val)
|
rs2136647902
|
|
NM_000264.5(PTCH1):c.3275T>C (p.Ile1092Thr)
|
|
|
NM_000264.5(PTCH1):c.3280G>A (p.Val1094Met)
|
rs1588535447
|
|
NM_000264.5(PTCH1):c.3283G>C (p.Glu1095Gln)
|
rs1588535427
|
|
NM_000264.5(PTCH1):c.3288C>G (p.Phe1096Leu)
|
rs745563970
|
|
NM_000264.5(PTCH1):c.3289A>G (p.Thr1097Ala)
|
|
|
NM_000264.5(PTCH1):c.328G>C (p.Gly110Arg)
|
rs1843654942
|
|
NM_000264.5(PTCH1):c.3304T>G (p.Leu1102Val)
|
rs1554690984
|
|
NM_000264.5(PTCH1):c.3306+5G>A
|
rs587780701
|
|
NM_000264.5(PTCH1):c.3306+6G>T
|
rs777678813
|
|
NM_000264.5(PTCH1):c.3306G>A (p.Leu1102=)
|
rs1564017035
|
|
NM_000264.5(PTCH1):c.3307-3C>T
|
|
|
NM_000264.5(PTCH1):c.3307G>T (p.Ala1103Ser)
|
rs1838668785
|
|
NM_000264.5(PTCH1):c.3328G>A (p.Asp1110Asn)
|
rs911494100
|
|
NM_000264.5(PTCH1):c.3328G>C (p.Asp1110His)
|
rs911494100
|
|
NM_000264.5(PTCH1):c.3328G>T (p.Asp1110Tyr)
|
rs911494100
|
|
NM_000264.5(PTCH1):c.332C>G (p.Ala111Gly)
|
|
|
NM_000264.5(PTCH1):c.3332A>G (p.Lys1111Arg)
|
rs2136632174
|
|
NM_000264.5(PTCH1):c.3336C>A (p.Asn1112Lys)
|
|
|
NM_000264.5(PTCH1):c.3338G>T (p.Arg1113Leu)
|
|
|
NM_000264.5(PTCH1):c.3346G>T (p.Val1116Leu)
|
|
|
NM_000264.5(PTCH1):c.3349C>G (p.Leu1117Val)
|
|
|
NM_000264.5(PTCH1):c.3352G>T (p.Ala1118Ser)
|
|
|
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.3362A>G (p.His1121Arg)
|
rs1838661805
|
|
NM_000264.5(PTCH1):c.3362A>T (p.His1121Leu)
|
rs1838661805
|
|
NM_000264.5(PTCH1):c.3364A>G (p.Met1122Val)
|
rs1838661361
|
|
NM_000264.5(PTCH1):c.3365T>A (p.Met1122Lys)
|
rs929802114
|
|
NM_000264.5(PTCH1):c.3365T>C (p.Met1122Thr)
|
|
|
NM_000264.5(PTCH1):c.3373C>T (p.Pro1125Ser)
|
|
|
NM_000264.5(PTCH1):c.3376G>T (p.Val1126Phe)
|
rs147025073
|
|
NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg)
|
rs1588528637
|
|
NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr)
|
rs878853856
|
|
NM_000264.5(PTCH1):c.3397A>C (p.Thr1133Pro)
|
|
|
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala)
|
rs1131690996
|
|
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val)
|
rs1838656000
|
|
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro)
|
rs1131690989
|
|
NM_000264.5(PTCH1):c.340G>A (p.Val114Met)
|
rs1843653470
|
|
NM_000264.5(PTCH1):c.340G>T (p.Val114Leu)
|
rs1843653470
|
|
NM_000264.5(PTCH1):c.3412C>G (p.Leu1138Val)
|
rs1838654825
|
|
NM_000264.5(PTCH1):c.3413T>C (p.Leu1138Pro)
|
|
|
NM_000264.5(PTCH1):c.3429T>A (p.Ser1143=)
|
rs778900289
|
|
NM_000264.5(PTCH1):c.3444T>G (p.Ile1148Met)
|
rs1439411173
|
|
NM_000264.5(PTCH1):c.3446T>A (p.Val1149Asp)
|
|
|
NM_000264.5(PTCH1):c.3448A>G (p.Arg1150Gly)
|
|
|
NM_000264.5(PTCH1):c.3449+3A>G
|
rs201942643
|
|
NM_000264.5(PTCH1):c.3449+6C>T
|
rs2136630772
|
|
NM_000264.5(PTCH1):c.3449G>A (p.Arg1150Lys)
|
|
|
NM_000264.5(PTCH1):c.344G>A (p.Gly115Glu)
|
rs544052043
|
|
NM_000264.5(PTCH1):c.344G>T (p.Gly115Val)
|
rs544052043
|
|
NM_000264.5(PTCH1):c.3460G>A (p.Ala1154Thr)
|
rs878853857
|
|
NM_000264.5(PTCH1):c.3460G>C (p.Ala1154Pro)
|
rs878853857
|
|
NM_000264.5(PTCH1):c.3461C>G (p.Ala1154Gly)
|
rs1838315753
|
|
NM_000264.5(PTCH1):c.3462_3464del (p.Val1155del)
|
|
|
NM_000264.5(PTCH1):c.3463G>A (p.Val1155Met)
|
rs1588519562
|
|
NM_000264.5(PTCH1):c.3463G>C (p.Val1155Leu)
|
|
|
NM_000264.5(PTCH1):c.3463G>T (p.Val1155Leu)
|
rs1588519562
|
|
NM_000264.5(PTCH1):c.3466C>G (p.Leu1156Val)
|
rs1838315273
|
|
NM_000264.5(PTCH1):c.3476T>C (p.Leu1159Pro)
|
rs1588519508
|
|
NM_000264.5(PTCH1):c.3478_3486del (p.Thr1160_Leu1162del)
|
rs1838312038
|
|
NM_000264.5(PTCH1):c.3478_3486dup (p.Thr1160_Leu1162dup)
|
rs1838312038
|
|
NM_000264.5(PTCH1):c.3484C>T (p.Leu1162Phe)
|
rs2136608105
|
|
NM_000264.5(PTCH1):c.3497A>G (p.Asn1166Ser)
|
rs1271099813
|
|
NM_000264.5(PTCH1):c.3504G>A (p.Leu1168=)
|
rs1838309835
|
|
NM_000264.5(PTCH1):c.3509T>G (p.Leu1170Trp)
|
|
|
NM_000264.5(PTCH1):c.3511C>T (p.Leu1171Phe)
|
rs1838309603
|
|
NM_000264.5(PTCH1):c.3512T>G (p.Leu1171Arg)
|
|
|
NM_000264.5(PTCH1):c.3514_3522del (p.Pro1172_Leu1174del)
|
rs1838308465
|
|
NM_000264.5(PTCH1):c.3517G>A (p.Val1173Met)
|
rs1588519372
|
|
NM_000264.5(PTCH1):c.3518T>C (p.Val1173Ala)
|
|
|
NM_000264.5(PTCH1):c.351AGC[1] (p.Ala119del)
|
|
|
NM_000264.5(PTCH1):c.3527C>G (p.Ser1176Cys)
|
rs864622160
|
|
NM_000264.5(PTCH1):c.352G>C (p.Ala118Pro)
|
|
|
NM_000264.5(PTCH1):c.3538C>G (p.Pro1180Ala)
|
rs1314555601
|
|
NM_000264.5(PTCH1):c.3539C>T (p.Pro1180Leu)
|
|
|
NM_000264.5(PTCH1):c.3544C>G (p.Pro1182Ala)
|
rs1259037941
|
|
NM_000264.5(PTCH1):c.3544C>T (p.Pro1182Ser)
|
rs1259037941
|
|
NM_000264.5(PTCH1):c.3549+4A>T
|
|
|
NM_000264.5(PTCH1):c.3549+5G>T
|
rs565899674
|
|
NM_000264.5(PTCH1):c.3550-10C>A
|
rs2136603294
|
|
NM_000264.5(PTCH1):c.3550-4A>G
|
rs1838244885
|
|
NM_000264.5(PTCH1):c.3550G>A (p.Val1184Met)
|
|
|
NM_000264.5(PTCH1):c.3556C>T (p.Pro1186Ser)
|
|
|
NM_000264.5(PTCH1):c.3557C>T (p.Pro1186Leu)
|
rs1838242467
|
|
NM_000264.5(PTCH1):c.3559G>A (p.Ala1187Thr)
|
rs1838241713
|
|
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>C (p.Gly1189Arg)
|
rs767535853
|
|
NM_000264.5(PTCH1):c.3575G>T (p.Arg1192Leu)
|
rs762040036
|
|
NM_000264.5(PTCH1):c.3581C>G (p.Pro1194Arg)
|
rs1838236724
|
|
NM_000264.5(PTCH1):c.3584C>T (p.Thr1195Ile)
|
rs1588517836
|
|
NM_000264.5(PTCH1):c.3586C>T (p.Pro1196Ser)
|
rs1588517811
|
|
NM_000264.5(PTCH1):c.358A>C (p.Asn120His)
|
|
|
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.3593C>T (p.Pro1198Leu)
|
|
|
NM_000264.5(PTCH1):c.3595G>A (p.Glu1199Lys)
|
|
|
NM_000264.5(PTCH1):c.3601C>T (p.Pro1201Ser)
|
rs1838233287
|
|
NM_000264.5(PTCH1):c.3602C>A (p.Pro1201His)
|
rs1838233041
|
|
NM_000264.5(PTCH1):c.3604C>T (p.Pro1202Ser)
|
rs1384935549
|
|
NM_000264.5(PTCH1):c.3605C>A (p.Pro1202His)
|
|
|
NM_000264.5(PTCH1):c.3605_3606insG (p.Ser1203fs)
|
rs2136601667
|
|
NM_000264.5(PTCH1):c.3606dup (p.Ser1203fs)
|
|
|
NM_000264.5(PTCH1):c.3608dup (p.Ser1203fs)
|
|
|
NM_000264.5(PTCH1):c.360C>A (p.Asn120Lys)
|
rs1327411160
|
|
NM_000264.5(PTCH1):c.360C>G (p.Asn120Lys)
|
rs1327411160
|
|
NM_000264.5(PTCH1):c.3614T>A (p.Val1205Asp)
|
rs775882469
|
|
NM_000264.5(PTCH1):c.3614T>G (p.Val1205Gly)
|
|
|
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.3627G>A (p.Met1209Ile)
|
rs1838227370
|
|
NM_000264.5(PTCH1):c.3628C>T (p.Pro1210Ser)
|
|
|
NM_000264.5(PTCH1):c.3633del (p.Gly1212fs)
|
rs2136600953
|
|
NM_000264.5(PTCH1):c.3640A>G (p.Thr1214Ala)
|
rs1564008713
|
|
NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn)
|
rs1554689404
|
|
NM_000264.5(PTCH1):c.3647del (p.Ser1216fs)
|
|
|
NM_000264.5(PTCH1):c.3648C>A (p.Ser1216Arg)
|
rs377608291
|
|
NM_000264.5(PTCH1):c.3649G>T (p.Gly1217Trp)
|
rs768986314
|
|
NM_000264.5(PTCH1):c.364G>A (p.Glu122Lys)
|
rs374150356
|
|
NM_000264.5(PTCH1):c.3650G>C (p.Gly1217Ala)
|
|
|
NM_000264.5(PTCH1):c.3652T>G (p.Ser1218Ala)
|
rs1838222745
|
|
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.365A>C (p.Glu122Ala)
|
rs1843650243
|
|
NM_000264.5(PTCH1):c.3661T>A (p.Ser1221Thr)
|
|
|
NM_000264.5(PTCH1):c.3661T>C (p.Ser1221Pro)
|
|
|
NM_000264.5(PTCH1):c.3662C>T (p.Ser1221Phe)
|
rs1838221565
|
|
NM_000264.5(PTCH1):c.3667T>G (p.Ser1223Ala)
|
|
|
NM_000264.5(PTCH1):c.3670G>C (p.Glu1224Gln)
|
|
|
NM_000264.5(PTCH1):c.3672G>C (p.Glu1224Asp)
|
|
|
NM_000264.5(PTCH1):c.3674A>G (p.Tyr1225Cys)
|
rs2136599880
|
|
NM_000264.5(PTCH1):c.3675T>A (p.Tyr1225Ter)
|
rs1588517196
|
|
NM_000264.5(PTCH1):c.3683A>G (p.Gln1228Arg)
|
rs1838218958
|
|
NM_000264.5(PTCH1):c.3685A>T (p.Thr1229Ser)
|
rs1838218744
|
|
NM_000264.5(PTCH1):c.368C>T (p.Thr123Ile)
|
rs1843649762
|
|
NM_000264.5(PTCH1):c.3698G>A (p.Gly1233Asp)
|
|
|
NM_000264.5(PTCH1):c.3701T>C (p.Leu1234Pro)
|
rs1838217335
|
|
NM_000264.5(PTCH1):c.3705C>A (p.Ser1235Arg)
|
rs1051927200
|
|
NM_000264.5(PTCH1):c.3718C>T (p.His1240Tyr)
|
rs2136598509
|
|
NM_000264.5(PTCH1):c.3719A>C (p.His1240Pro)
|
|
|
NM_000264.5(PTCH1):c.3721_3765del (p.Tyr1241_Ile1255del)
|
rs760239449
|
|
NM_000264.5(PTCH1):c.3725A>C (p.Glu1242Ala)
|
|
|
NM_000264.5(PTCH1):c.3726G>C (p.Glu1242Asp)
|
rs1838214724
|
|
NM_000264.5(PTCH1):c.3728C>T (p.Ala1243Val)
|
|
|
NM_000264.5(PTCH1):c.3731_3749del (p.Gln1244fs)
|
rs2136597743
|
|
NM_000264.5(PTCH1):c.3732_3755dup (p.Ala1251_His1252insGlnGlnGlyAlaGlyGlyProAla)
|
|
|
NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu)
|
rs1838213882
|
|
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.3742G>A (p.Gly1248Arg)
|
rs2136597903
|
|
NM_000264.5(PTCH1):c.3743del (p.Gly1248fs)
|
|
|
NM_000264.5(PTCH1):c.3745G>A (p.Gly1249Ser)
|
|
|
NM_000264.5(PTCH1):c.3749C>G (p.Pro1250Arg)
|
rs1838211042
|
|
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.3765C>G (p.Ile1255Met)
|
rs758229027
|
|
NM_000264.5(PTCH1):c.3769G>A (p.Glu1257Lys)
|
rs750397931
|
|
NM_000264.5(PTCH1):c.3775A>C (p.Thr1259Pro)
|
rs1838207256
|
|
NM_000264.5(PTCH1):c.3776C>T (p.Thr1259Ile)
|
rs2136597007
|
|
NM_000264.5(PTCH1):c.3779A>G (p.Glu1260Gly)
|
|
|
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser)
|
rs970679518
|
|
NM_000264.5(PTCH1):c.3785C>T (p.Pro1262Leu)
|
rs1838206596
|
|
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.3796C>A (p.His1266Asn)
|
|
|
NM_000264.5(PTCH1):c.3798C>A (p.His1266Gln)
|
|
|
NM_000264.5(PTCH1):c.3803C>G (p.Thr1268Ser)
|
rs1554689262
|
|
NM_000264.5(PTCH1):c.3804+2dup
|
rs1588516590
|
|
NM_000264.5(PTCH1):c.3804+3_3804+6del
|
|
|
NM_000264.5(PTCH1):c.3805G>A (p.Val1269Met)
|
rs1838059096
|
|
NM_000264.5(PTCH1):c.3805G>T (p.Val1269Leu)
|
rs1838059096
|
|
NM_000264.5(PTCH1):c.3811C>T (p.His1271Tyr)
|
rs1554688752
|
|
NM_000264.5(PTCH1):c.3812A>G (p.His1271Arg)
|
rs1838057444
|
|
NM_000264.5(PTCH1):c.3815C>T (p.Pro1272Leu)
|
rs774167762
|
|
NM_000264.5(PTCH1):c.3826C>G (p.His1276Asp)
|
rs786204190
|
|
NM_000264.5(PTCH1):c.3826C>T (p.His1276Tyr)
|
rs786204190
|
|
NM_000264.5(PTCH1):c.3829C>T (p.His1277Tyr)
|
rs1838054298
|
|
NM_000264.5(PTCH1):c.3830A>G (p.His1277Arg)
|
rs755092661
|
|
NM_000264.5(PTCH1):c.3833C>T (p.Pro1278Leu)
|
rs2136584562
|
|
NM_000264.5(PTCH1):c.3835C>T (p.Pro1279Ser)
|
rs1166276004
|
|
NM_000264.5(PTCH1):c.3838T>G (p.Ser1280Ala)
|
rs2136584448
|
|
NM_000264.5(PTCH1):c.3843C>G (p.Asn1281Lys)
|
|
|
NM_000264.5(PTCH1):c.3845C>G (p.Pro1282Arg)
|
|
|
NM_000264.5(PTCH1):c.3850C>T (p.Gln1284Ter)
|
rs1838050037
|
|
NM_000264.5(PTCH1):c.3851A>G (p.Gln1284Arg)
|
|
|
NM_000264.5(PTCH1):c.3851AGC[1] (p.Gln1285del)
|
|
|
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)
|
|
|
NM_000264.5(PTCH1):c.3857C>T (p.Pro1286Leu)
|
|
|
NM_000264.5(PTCH1):c.3859C>T (p.His1287Tyr)
|
rs1838047745
|
|
NM_000264.5(PTCH1):c.3860_3907del (p.His1287_Pro1302del)
|
rs1064792957
|
|
NM_000264.5(PTCH1):c.3862C>G (p.Leu1288Val)
|
rs1588512171
|
|
NM_000264.5(PTCH1):c.3871G>A (p.Gly1291Arg)
|
rs2136583470
|
|
NM_000264.5(PTCH1):c.3872G>A (p.Gly1291Glu)
|
|
|
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.3887G>T (p.Gly1296Val)
|
rs2136583024
|
|
NM_000264.5(PTCH1):c.3888A>T (p.Gly1296=)
|
|
|
NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)
|
|
|
NM_000264.5(PTCH1):c.3902A>G (p.Gln1301Arg)
|
|
|
NM_000264.5(PTCH1):c.3910A>G (p.Arg1304Gly)
|
|
|
NM_000264.5(PTCH1):c.3911G>A (p.Arg1304Lys)
|
rs1838039734
|
|
NM_000264.5(PTCH1):c.3911G>C (p.Arg1304Thr)
|
rs1838039734
|
|
NM_000264.5(PTCH1):c.3916C>T (p.Pro1306Ser)
|
rs1169961504
|
|
NM_000264.5(PTCH1):c.3917C>A (p.Pro1306His)
|
rs864622483
|
|
NM_000264.5(PTCH1):c.391G>A (p.Glu131Lys)
|
rs1321623220
|
|
NM_000264.5(PTCH1):c.391G>C (p.Glu131Gln)
|
|
|
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs)
|
rs761353734
|
|
NM_000264.5(PTCH1):c.3933G>T (p.Leu1311Phe)
|
rs761688859
|
|
NM_000264.5(PTCH1):c.3936G>A (p.Trp1312Ter)
|
rs1360926879
|
|
NM_000264.5(PTCH1):c.394+2dup
|
rs1587692814
|
|
NM_000264.5(PTCH1):c.394+4A>G
|
|
|
NM_000264.5(PTCH1):c.394+6A>T
|
|
|
NM_000264.5(PTCH1):c.3940C>G (p.Pro1314Ala)
|
|
|
NM_000264.5(PTCH1):c.3941C>A (p.Pro1314His)
|
|
|
NM_000264.5(PTCH1):c.3942_3944delinsAGT (p.Pro1315Val)
|
rs2136581220
|
|
NM_000264.5(PTCH1):c.3943_3944delinsTT (p.Pro1315Phe)
|
rs1588511695
|
|
NM_000264.5(PTCH1):c.3944_3945insT (p.Tyr1316fs)
|
rs1838031865
|
|
NM_000264.5(PTCH1):c.395-6T>G
|
rs1162835966
|
|
NM_000264.5(PTCH1):c.3951A>C (p.Arg1317Ser)
|
rs1211632031
|
|
NM_000264.5(PTCH1):c.3956G>T (p.Arg1319Leu)
|
rs572658914
|
|
NM_000264.5(PTCH1):c.3958A>G (p.Arg1320Gly)
|
rs1838027827
|
|
NM_000264.5(PTCH1):c.395T>C (p.Val132Ala)
|
|
|
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.3968T>C (p.Phe1323Ser)
|
|
|
NM_000264.5(PTCH1):c.3971A>G (p.Glu1324Gly)
|
|
|
NM_000264.5(PTCH1):c.3976T>C (p.Ser1326Pro)
|
|
|
NM_000264.5(PTCH1):c.3979A>G (p.Thr1327Ala)
|
rs761753681
|
|
NM_000264.5(PTCH1):c.3989A>G (p.His1330Arg)
|
rs1564005652
|
|
NM_000264.5(PTCH1):c.4000_4023dup (p.Ser1334_Pro1341dup)
|
rs1588511230
|
|
NM_000264.5(PTCH1):c.4001G>C (p.Ser1334Thr)
|
rs200620662
|
|
NM_000264.5(PTCH1):c.4002C>A (p.Ser1334Arg)
|
rs933654875
|
|
NM_000264.5(PTCH1):c.4006_4026del (p.Arg1336_Arg1342del)
|
|
|
NM_000264.5(PTCH1):c.4007G>A (p.Arg1336Lys)
|
rs1838019737
|
|
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
|
|
|
NM_000264.5(PTCH1):c.4010C>T (p.Ala1337Val)
|
|
|
NM_000264.5(PTCH1):c.4013G>T (p.Arg1338Leu)
|
rs771238114
|
|
NM_000264.5(PTCH1):c.4018G>A (p.Gly1340Ser)
|
|
|
NM_000264.5(PTCH1):c.4019G>C (p.Gly1340Ala)
|
|
|
NM_000264.5(PTCH1):c.4024C>G (p.Arg1342Gly)
|
rs781539921
|
|
NM_000264.5(PTCH1):c.4025G>T (p.Arg1342Leu)
|
rs575146278
|
|
NM_000264.5(PTCH1):c.4027G>T (p.Gly1343Trp)
|
rs200100952
|
|
NM_000264.5(PTCH1):c.4031C>T (p.Ala1344Val)
|
rs1060502289
|
|
NM_000264.5(PTCH1):c.4037C>T (p.Ser1346Phe)
|
rs1554688418
|
|
NM_000264.5(PTCH1):c.4039C>T (p.His1347Tyr)
|
rs760724368
|
|
NM_000264.5(PTCH1):c.4040A>T (p.His1347Leu)
|
rs2136578408
|
|
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys)
|
rs1412873206
|
|
NM_000264.5(PTCH1):c.4048C>A (p.Arg1350=)
|
rs140417636
|
|
NM_000264.5(PTCH1):c.4052A>G (p.Asn1351Ser)
|
rs1588510932
|
|
NM_000264.5(PTCH1):c.4053C>A (p.Asn1351Lys)
|
rs1564005341
|
|
NM_000264.5(PTCH1):c.4055C>T (p.Pro1352Leu)
|
rs1022984391
|
|
NM_000264.5(PTCH1):c.4060T>C (p.Ser1354Pro)
|
|
|
NM_000264.5(PTCH1):c.4064C>T (p.Thr1355Ile)
|
rs779482395
|
|
NM_000264.5(PTCH1):c.4067C>T (p.Ala1356Val)
|
rs2136577556
|
|
NM_000264.5(PTCH1):c.406G>A (p.Val136Ile)
|
rs1240746395
|
|
NM_000264.5(PTCH1):c.4070T>C (p.Met1357Thr)
|
|
|
NM_000264.5(PTCH1):c.4071G>A (p.Met1357Ile)
|
|
|
NM_000264.5(PTCH1):c.4075A>G (p.Ser1359Gly)
|
|
|
NM_000264.5(PTCH1):c.4078T>C (p.Ser1360Pro)
|
rs1838003007
|
|
NM_000264.5(PTCH1):c.4084C>T (p.Pro1362Ser)
|
rs1838001528
|
|
NM_000264.5(PTCH1):c.4085C>G (p.Pro1362Arg)
|
|
|
NM_000264.5(PTCH1):c.4091A>G (p.Tyr1364Cys)
|
rs1838000346
|
|
NM_000264.5(PTCH1):c.4094G>T (p.Cys1365Phe)
|
rs1397510746
|
|
NM_000264.5(PTCH1):c.4106C>G (p.Thr1369Ser)
|
|
|
NM_000264.5(PTCH1):c.4106C>T (p.Thr1369Ile)
|
rs762925808
|
|
NM_000264.5(PTCH1):c.4108_4110del (p.Thr1370del)
|
|
|
NM_000264.5(PTCH1):c.410G>A (p.Ser137Asn)
|
|
|
NM_000264.5(PTCH1):c.4111G>A (p.Val1371Met)
|
rs1837997469
|
|
NM_000264.5(PTCH1):c.4112T>C (p.Val1371Ala)
|
|
|
NM_000264.5(PTCH1):c.4117G>A (p.Ala1373Thr)
|
rs1267726258
|
|
NM_000264.5(PTCH1):c.4118C>G (p.Ala1373Gly)
|
rs2136576006
|
|
NM_000264.5(PTCH1):c.4123G>A (p.Ala1375Thr)
|
|
|
NM_000264.5(PTCH1):c.4123G>T (p.Ala1375Ser)
|
rs769022340
|
|
NM_000264.5(PTCH1):c.4129G>C (p.Val1377Leu)
|
rs745337014
|
|
NM_000264.5(PTCH1):c.4133C>G (p.Thr1378Ser)
|
|
|
NM_000264.5(PTCH1):c.4135G>C (p.Val1379Leu)
|
rs2136575538
|
|
NM_000264.5(PTCH1):c.4138G>C (p.Ala1380Pro)
|
rs111481152
|
|
NM_000264.5(PTCH1):c.4138G>T (p.Ala1380Ser)
|
rs111481152
|
|
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val)
|
rs777641179
|
|
NM_000264.5(PTCH1):c.4141G>T (p.Val1381Leu)
|
rs187104739
|
|
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>G (p.His1382Gln)
|
rs1207158056
|
|
NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu)
|
rs754065147
|
|
NM_000264.5(PTCH1):c.4160C>G (p.Pro1387Arg)
|
rs552921967
|
|
NM_000264.5(PTCH1):c.4160CTGGGC[1] (p.1387PG[1])
|
|
|
NM_000264.5(PTCH1):c.4160CTGGGC[3] (p.1387PG[3])
|
rs1060502272
|
|
NM_000264.5(PTCH1):c.4160del (p.Pro1387fs)
|
rs1837987148
|
|
NM_000264.5(PTCH1):c.4163G>A (p.Gly1388Glu)
|
|
|
NM_000264.5(PTCH1):c.4165C>T (p.Pro1389Ser)
|
rs1180812915
|
|
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.4168G>C (p.Gly1390Arg)
|
rs1239904766
|
|
NM_000264.5(PTCH1):c.4168G>T (p.Gly1390Trp)
|
rs1239904766
|
|
NM_000264.5(PTCH1):c.4169G>A (p.Gly1390Glu)
|
rs1837985101
|
|
NM_000264.5(PTCH1):c.416A>G (p.Glu139Gly)
|
|
|
NM_000264.5(PTCH1):c.4177C>A (p.Pro1393Thr)
|
rs1388774785
|
|
NM_000264.5(PTCH1):c.4177C>T (p.Pro1393Ser)
|
|
|
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu)
|
rs1368334005
|
|
NM_000264.5(PTCH1):c.4180dup (p.Arg1394fs)
|
rs1297699637
|
|
NM_000264.5(PTCH1):c.4184G>A (p.Gly1395Glu)
|
|
|
NM_000264.5(PTCH1):c.4185G>T (p.Gly1395=)
|
rs769616992
|
|
NM_000264.5(PTCH1):c.4187G>C (p.Gly1396Ala)
|
|
|
NM_000264.5(PTCH1):c.4187G>T (p.Gly1396Val)
|
rs747923595
|
|
NM_000264.5(PTCH1):c.4187del (p.Gly1396fs)
|
rs1588510168
|
|
NM_000264.5(PTCH1):c.4188del (p.Leu1397fs)
|
|
|
NM_000264.5(PTCH1):c.4189C>A (p.Leu1397Ile)
|
rs1837978959
|
|
NM_000264.5(PTCH1):c.4189C>T (p.Leu1397Phe)
|
rs1837978959
|
|
NM_000264.5(PTCH1):c.4191_4192dup (p.Cys1398fs)
|
|
|
NM_000264.5(PTCH1):c.4192T>C (p.Cys1398Arg)
|
rs1372936088
|
|
NM_000264.5(PTCH1):c.4193G>A (p.Cys1398Tyr)
|
|
|
NM_000264.5(PTCH1):c.4193G>C (p.Cys1398Ser)
|
|
|
NM_000264.5(PTCH1):c.4193del (p.Cys1398fs)
|
rs1837977676
|
|
NM_000264.5(PTCH1):c.4196C>T (p.Pro1399Leu)
|
rs1564004776
|
|
NM_000264.5(PTCH1):c.4201T>C (p.Tyr1401His)
|
rs2136573477
|
|
NM_000264.5(PTCH1):c.4202A>C (p.Tyr1401Ser)
|
|
|
NM_000264.5(PTCH1):c.4202A>G (p.Tyr1401Cys)
|
rs1837975310
|
|
NM_000264.5(PTCH1):c.4207G>A (p.Glu1403Lys)
|
|
|
NM_000264.5(PTCH1):c.4208A>G (p.Glu1403Gly)
|
rs1837974768
|
|
NM_000264.5(PTCH1):c.4214A>G (p.Asp1405Gly)
|
|
|
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.4218del (p.His1406fs)
|
rs2136573069
|
|
NM_000264.5(PTCH1):c.4219_4220dup (p.Leu1408fs)
|
|
|
NM_000264.5(PTCH1):c.421A>G (p.Asn141Asp)
|
rs1841928550
|
|
NM_000264.5(PTCH1):c.4226T>C (p.Phe1409Ser)
|
|
|
NM_000264.5(PTCH1):c.4228G>A (p.Glu1410Lys)
|
rs1554688143
|
|
NM_000264.5(PTCH1):c.4230_4231insACTGAG (p.Glu1410_Asp1411insThrGlu)
|
rs1434554186
|
|
NM_000264.5(PTCH1):c.4232A>G (p.Asp1411Gly)
|
rs774913538
|
|
NM_000264.5(PTCH1):c.4232A>T (p.Asp1411Val)
|
|
|
NM_000264.5(PTCH1):c.4233C>A (p.Asp1411Glu)
|
rs2136572617
|
|
NM_000264.5(PTCH1):c.4234C>G (p.Pro1412Ala)
|
rs1554688130
|
|
NM_000264.5(PTCH1):c.4234C>T (p.Pro1412Ser)
|
rs1554688130
|
|
NM_000264.5(PTCH1):c.4238A>G (p.His1413Arg)
|
|
|
NM_000264.5(PTCH1):c.4239C>A (p.His1413Gln)
|
|
|
NM_000264.5(PTCH1):c.4240G>T (p.Val1414Leu)
|
|
|
NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)
|
|
|
NM_000264.5(PTCH1):c.4243C>G (p.Pro1415Ala)
|
rs1837967897
|
|
NM_000264.5(PTCH1):c.4246T>C (p.Phe1416Leu)
|
rs1554688102
|
|
NM_000264.5(PTCH1):c.4246_4247dup (p.His1417fs)
|
|
|
NM_000264.5(PTCH1):c.4247T>G (p.Phe1416Cys)
|
rs1837966836
|
|
NM_000264.5(PTCH1):c.4250A>G (p.His1417Arg)
|
|
|
NM_000264.5(PTCH1):c.4252G>T (p.Val1418Phe)
|
rs369882883
|
|
NM_000264.5(PTCH1):c.4253T>C (p.Val1418Ala)
|
rs2136572074
|
|
NM_000264.5(PTCH1):c.4255C>G (p.Arg1419Gly)
|
|
|
NM_000264.5(PTCH1):c.4259G>A (p.Cys1420Tyr)
|
rs913816675
|
|
NM_000264.5(PTCH1):c.425A>G (p.Tyr142Cys)
|
|
|
NM_000264.5(PTCH1):c.4261G>A (p.Glu1421Lys)
|
rs575473447
|
|
NM_000264.5(PTCH1):c.4264A>G (p.Arg1422Gly)
|
rs1246323077
|
|
NM_000264.5(PTCH1):c.4267A>G (p.Arg1423Gly)
|
|
|
NM_000264.5(PTCH1):c.4268G>A (p.Arg1423Lys)
|
|
|
NM_000264.5(PTCH1):c.4269G>T (p.Arg1423Ser)
|
|
|
NM_000264.5(PTCH1):c.4270G>T (p.Asp1424Tyr)
|
rs1837962537
|
|
NM_000264.5(PTCH1):c.4276A>G (p.Lys1426Glu)
|
|
|
NM_000264.5(PTCH1):c.4277A>C (p.Lys1426Thr)
|
|
|
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.4282G>A (p.Glu1428Lys)
|
|
|
NM_000264.5(PTCH1):c.4286T>C (p.Val1429Ala)
|
|
|
NM_000264.5(PTCH1):c.4295T>A (p.Leu1432Gln)
|
rs755078405
|
|
NM_000264.5(PTCH1):c.4295T>C (p.Leu1432Pro)
|
|
|
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu)
|
rs772802013
|
|
NM_000264.5(PTCH1):c.4301A>G (p.Asp1434Gly)
|
rs2136571074
|
|
NM_000264.5(PTCH1):c.4306G>C (p.Glu1436Gln)
|
|
|
NM_000264.5(PTCH1):c.4307A>G (p.Glu1436Gly)
|
rs2136570975
|
|
NM_000264.5(PTCH1):c.4309T>G (p.Cys1437Gly)
|
|
|
NM_000264.5(PTCH1):c.4311C>G (p.Cys1437Trp)
|
rs368571026
|
|
NM_000264.5(PTCH1):c.4312G>C (p.Glu1438Gln)
|
|
|
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter)
|
rs2136570815
|
|
NM_000264.5(PTCH1):c.4317G>C (p.Glu1439Asp)
|
|
|
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>T (p.Arg144Leu)
|
rs1316474105
|
|
NM_000264.5(PTCH1):c.4324C>G (p.Arg1442Gly)
|
rs143464326
|
|
NM_000264.5(PTCH1):c.4325G>T (p.Arg1442Leu)
|
rs56023271
|
|
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val)
|
rs864622100
|
|
NM_000264.5(PTCH1):c.4330A>C (p.Ser1444Arg)
|
|
|
NM_000264.5(PTCH1):c.4331G>A (p.Ser1444Asn)
|
rs1347860599
|
|
NM_000264.5(PTCH1):c.4337C>T (p.Ser1446Phe)
|
rs2136570475
|
|
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser)
|
rs972576439
|
|
NM_000264.5(PTCH1):c.4342T>C (p.Ter1448Arg)
|
|
|
NM_000264.5(PTCH1):c.434A>G (p.Gln145Arg)
|
|
|
NM_000264.5(PTCH1):c.435G>T (p.Gln145His)
|
|
|
NM_000264.5(PTCH1):c.439A>G (p.Ile147Val)
|
rs1564063300
|
|
NM_000264.5(PTCH1):c.440T>C (p.Ile147Thr)
|
rs1588622790
|
|
NM_000264.5(PTCH1):c.461A>T (p.Asn154Ile)
|
rs1302474403
|
|
NM_000264.5(PTCH1):c.469C>A (p.Leu157Ile)
|
|
|
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.474G>A (p.Met158Ile)
|
|
|
NM_000264.5(PTCH1):c.475A>G (p.Ile159Val)
|
rs1060502288
|
|
NM_000264.5(PTCH1):c.479A>G (p.Gln160Arg)
|
rs1060502267
|
|
NM_000264.5(PTCH1):c.482C>G (p.Thr161Ser)
|
|
|
NM_000264.5(PTCH1):c.485C>T (p.Pro162Leu)
|
|
|
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.488A>G (p.Lys163Arg)
|
rs56406491
|
|
NM_000264.5(PTCH1):c.488AAG[2] (p.Glu165del)
|
rs1201611173
|
|
NM_000264.5(PTCH1):c.490G>A (p.Glu164Lys)
|
rs2118544070
|
|
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.503A>C (p.Asn168Thr)
|
|
|
NM_000264.5(PTCH1):c.505G>C (p.Val169Leu)
|
|
|
NM_000264.5(PTCH1):c.512C>T (p.Thr171Ile)
|
rs1554702106
|
|
NM_000264.5(PTCH1):c.521C>G (p.Ala174Gly)
|
rs772368023
|
|
NM_000264.5(PTCH1):c.528ACA[1] (p.Gln177del)
|
rs864622108
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NM_000264.5(PTCH1):c.531A>T (p.Gln177His)
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rs1841912540
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NM_000264.5(PTCH1):c.533A>G (p.His178Arg)
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rs1588622337
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NM_000264.5(PTCH1):c.538G>C (p.Asp180His)
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rs1554702067
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NM_000264.5(PTCH1):c.540C>G (p.Asp180Glu)
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NM_000264.5(PTCH1):c.544G>A (p.Ala182Thr)
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rs2118539440
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NM_000264.5(PTCH1):c.554C>T (p.Ala185Val)
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rs1276503562
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NM_000264.5(PTCH1):c.556A>G (p.Ser186Gly)
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rs1564062769
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NM_000264.5(PTCH1):c.559C>T (p.Arg187Cys)
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rs1554702047
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NM_000264.5(PTCH1):c.560_574del (p.Arg187_Met192delinsLeu)
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rs1841905841
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NM_000264.5(PTCH1):c.577T>C (p.Tyr193His)
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rs1841905015
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NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr)
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rs1554702009
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NM_000264.5(PTCH1):c.585G>A (p.Arg195=)
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NM_000264.5(PTCH1):c.589T>C (p.Trp197Arg)
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rs1312950307
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NM_000264.5(PTCH1):c.596T>G (p.Leu199Trp)
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rs767791358
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NM_000264.5(PTCH1):c.597G>A (p.Leu199=)
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NM_000264.5(PTCH1):c.598G>A (p.Glu200Lys)
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NM_000264.5(PTCH1):c.603T>A (p.His201Gln)
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NM_000264.5(PTCH1):c.610T>G (p.Tyr204Asp)
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NM_000264.5(PTCH1):c.614A>C (p.Lys205Thr)
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rs1841595401
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NM_000264.5(PTCH1):c.623A>C (p.Glu208Ala)
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rs2118473498
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NM_000264.5(PTCH1):c.628A>G (p.Ile210Val)
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rs1588614551
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NM_000264.5(PTCH1):c.628A>T (p.Ile210Phe)
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rs1588614551
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NM_000264.5(PTCH1):c.631A>T (p.Thr211Ser)
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NM_000264.5(PTCH1):c.641G>A (p.Gly214Asp)
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NM_000264.5(PTCH1):c.641G>T (p.Gly214Val)
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rs2118472707
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NM_000264.5(PTCH1):c.647T>C (p.Met216Thr)
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NM_000264.5(PTCH1):c.649G>T (p.Asp217Tyr)
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NM_000264.5(PTCH1):c.654+3A>G
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rs1131690966
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NM_000264.5(PTCH1):c.661G>A (p.Glu221Lys)
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rs1554700647
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NM_000264.5(PTCH1):c.665A>C (p.Tyr222Ser)
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NM_000264.5(PTCH1):c.670T>C (p.Tyr224His)
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NM_000264.5(PTCH1):c.676T>G (p.Cys226Gly)
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NM_000264.5(PTCH1):c.681G>C (p.Leu227Phe)
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NM_000264.5(PTCH1):c.682A>C (p.Ile228Leu)
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rs2118465097
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NM_000264.5(PTCH1):c.685A>G (p.Ile229Val)
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rs1841575695
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NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
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rs1554700630
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NM_000264.5(PTCH1):c.691C>T (p.Pro231Ser)
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rs1564057856
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NM_000264.5(PTCH1):c.700T>C (p.Cys234Arg)
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NM_000264.5(PTCH1):c.701G>T (p.Cys234Phe)
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rs1060502299
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NM_000264.5(PTCH1):c.715G>A (p.Ala239Thr)
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rs1841573078
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NM_000264.5(PTCH1):c.716C>T (p.Ala239Val)
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NM_000264.5(PTCH1):c.725A>G (p.Gln242Arg)
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NM_000264.5(PTCH1):c.733A>T (p.Thr245Ser)
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rs2118460143
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NM_000264.5(PTCH1):c.734C>G (p.Thr245Arg)
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rs1841570436
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NM_000264.5(PTCH1):c.742C>G (p.Leu248Val)
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NM_000264.5(PTCH1):c.742C>T (p.Leu248Phe)
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rs1841568646
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NM_000264.5(PTCH1):c.746+3A>G
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rs1841567989
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NM_000264.5(PTCH1):c.746+5G>C
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NM_000264.5(PTCH1):c.748G>A (p.Gly250Ser)
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NM_000264.5(PTCH1):c.751A>G (p.Lys251Glu)
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rs2118428694
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NM_000264.5(PTCH1):c.752A>T (p.Lys251Ile)
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NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg)
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rs1554700016
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NM_000264.5(PTCH1):c.772A>G (p.Asn258Asp)
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NM_000264.5(PTCH1):c.778G>C (p.Asp260His)
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NM_000264.5(PTCH1):c.781C>G (p.Pro261Ala)
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NM_000264.5(PTCH1):c.781C>T (p.Pro261Ser)
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NM_000264.5(PTCH1):c.784T>G (p.Leu262Val)
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NM_000264.5(PTCH1):c.785T>C (p.Leu262Ser)
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rs1318134628
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NM_000264.5(PTCH1):c.787G>A (p.Glu263Lys)
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rs1588610385
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NM_000264.5(PTCH1):c.799G>A (p.Glu267Lys)
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NM_000264.5(PTCH1):c.806A>G (p.Lys269Arg)
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rs1841454562
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NM_000264.5(PTCH1):c.820C>G (p.Gln274Glu)
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rs2118422378
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NM_000264.5(PTCH1):c.832T>C (p.Trp278Arg)
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NM_000264.5(PTCH1):c.838G>A (p.Glu280Lys)
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NM_000264.5(PTCH1):c.841A>G (p.Met281Val)
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rs2118420301
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NM_000264.5(PTCH1):c.842T>C (p.Met281Thr)
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rs1564055682
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NM_000264.5(PTCH1):c.849T>G (p.Asn283Lys)
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NM_000264.5(PTCH1):c.850A>C (p.Lys284Gln)
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rs1841450813
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NM_000264.5(PTCH1):c.856G>A (p.Glu286Lys)
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rs1841450226
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NM_000264.5(PTCH1):c.857A>G (p.Glu286Gly)
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NM_000264.5(PTCH1):c.863G>A (p.Gly288Asp)
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NM_000264.5(PTCH1):c.868G>A (p.Gly290Ser)
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rs2118418275
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NM_000264.5(PTCH1):c.869G>A (p.Gly290Asp)
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rs864622130
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NM_000264.5(PTCH1):c.872A>T (p.Tyr291Phe)
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NM_000264.5(PTCH1):c.874A>G (p.Met292Val)
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rs1588610088
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NM_000264.5(PTCH1):c.880C>T (p.Arg294Cys)
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rs1841447254
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NM_000264.5(PTCH1):c.889C>T (p.Leu297Phe)
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rs1841445491
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NM_000264.5(PTCH1):c.892A>C (p.Asn298His)
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rs1588609918
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NM_000264.5(PTCH1):c.892A>G (p.Asn298Asp)
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NM_000264.5(PTCH1):c.893A>T (p.Asn298Ile)
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NM_000264.5(PTCH1):c.896C>A (p.Pro299Gln)
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rs141939274
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NM_000264.5(PTCH1):c.898G>T (p.Ala300Ser)
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NM_000264.5(PTCH1):c.899C>G (p.Ala300Gly)
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NM_000264.5(PTCH1):c.901G>T (p.Asp301Tyr)
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rs767601899
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NM_000264.5(PTCH1):c.904C>G (p.Pro302Ala)
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rs1197814180
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NM_000264.5(PTCH1):c.907G>A (p.Asp303Asn)
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NM_000264.5(PTCH1):c.916G>T (p.Ala306Ser)
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NM_000264.5(PTCH1):c.919A>G (p.Thr307Ala)
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NM_000264.5(PTCH1):c.923C>G (p.Ala308Gly)
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rs2118413122
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NM_000264.5(PTCH1):c.929A>G (p.Asn310Ser)
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rs2118412532
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NM_000264.5(PTCH1):c.930C>A (p.Asn310Lys)
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NM_000264.5(PTCH1):c.930C>G (p.Asn310Lys)
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NM_000264.5(PTCH1):c.937T>G (p.Ser313Ala)
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NM_000264.5(PTCH1):c.940A>G (p.Thr314Ala)
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rs2118411651
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NM_000264.5(PTCH1):c.941C>A (p.Thr314Asn)
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NM_000264.5(PTCH1):c.943A>G (p.Lys315Glu)
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rs1564055253
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NM_000264.5(PTCH1):c.945+3G>A
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rs775144388
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NM_000264.5(PTCH1):c.945+3_945+6del
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rs1064795637
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NM_000264.5(PTCH1):c.945+4A>C
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rs1564055215
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NM_000264.5(PTCH1):c.945+6dup
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rs2118410569
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NM_000264.5(PTCH1):c.946-19G>A
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NM_000264.5(PTCH1):c.946-5T>C
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rs1588608882
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NM_000264.5(PTCH1):c.947C>T (p.Pro316Leu)
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rs143813198
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NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe)
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rs1380199153
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NM_000264.5(PTCH1):c.953A>T (p.Asp318Val)
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NM_000264.5(PTCH1):c.958G>T (p.Ala320Ser)
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rs1554699658
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NM_000264.5(PTCH1):c.959C>T (p.Ala320Val)
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rs2118395686
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NM_000264.5(PTCH1):c.964G>A (p.Val322Ile)
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NM_000264.5(PTCH1):c.964G>C (p.Val322Leu)
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NM_000264.5(PTCH1):c.967T>A (p.Leu323Met)
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rs1358555059
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NM_000264.5(PTCH1):c.973G>A (p.Gly325Ser)
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rs1588608738
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NM_000264.5(PTCH1):c.988T>G (p.Leu330Val)
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rs1841408486
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NM_000264.5(PTCH1):c.992C>G (p.Ser331Cys)
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rs1841408288
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NM_000264.5(PTCH1):c.995G>C (p.Arg332Thr)
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rs1564054690
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NM_000264.5(PTCH1):c.998A>T (p.Lys333Met)
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rs1238175144
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NM_000264.5(PTCH1):c.999G>C (p.Lys333Asn)
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