NM_003738.5(PTCH2):c.2963C>T (p.Thr988Met)
|
rs11573590
|
0.02555
|
NM_002890.3(RASA1):c.296C>T (p.Ala99Val)
|
rs111840875
|
0.02050
|
NM_000264.5(PTCH1):c.318C>T (p.Leu106=)
|
rs1805153
|
0.01567
|
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=)
|
rs11573587
|
0.01447
|
NM_003738.5(PTCH2):c.687C>T (p.Ala229=)
|
rs11573576
|
0.01288
|
NM_003738.5(PTCH2):c.2355C>T (p.Tyr785=)
|
rs11573588
|
0.01285
|
NM_003738.5(PTCH2):c.90G>A (p.Leu30=)
|
rs45573433
|
0.00945
|
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly)
|
rs202111971
|
0.00732
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=)
|
rs2066831
|
0.00677
|
NM_000264.5(PTCH1):c.1074T>C (p.His358=)
|
rs2066832
|
0.00674
|
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=)
|
rs62637630
|
0.00663
|
NM_003738.5(PTCH2):c.1371+8A>G
|
rs187485698
|
0.00661
|
NM_003738.5(PTCH2):c.1080G>T (p.Val360=)
|
rs11573579
|
0.00649
|
NM_003738.5(PTCH2):c.840T>C (p.Ser280=)
|
rs147627670
|
0.00534
|
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=)
|
rs34245589
|
0.00406
|
NM_005631.5(SMO):c.621C>T (p.Tyr207=)
|
rs56318556
|
0.00282
|
NM_003738.5(PTCH2):c.2695+8T>C
|
rs145066065
|
0.00211
|
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)
|
rs11573598
|
0.00155
|
NM_003738.5(PTCH2):c.1425G>A (p.Ala475=)
|
rs35851686
|
0.00152
|
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His)
|
rs138588008
|
0.00103
|
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)
|
rs140417636
|
0.00086
|
NM_003738.5(PTCH2):c.1569G>A (p.Ala523=)
|
rs143390610
|
0.00084
|
NM_003738.5(PTCH2):c.1596C>T (p.Ala532=)
|
rs140921885
|
0.00066
|
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)
|
rs779791579
|
0.00063
|
NM_002890.3(RASA1):c.360C>A (p.Pro120=)
|
rs137878395
|
0.00061
|
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)
|
rs147669300
|
0.00037
|
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)
|
rs574880967
|
0.00021
|
NM_003738.5(PTCH2):c.2782G>A (p.Glu928Lys)
|
rs199998309
|
0.00021
|
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)
|
rs200620662
|
0.00016
|
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala)
|
rs200002693
|
0.00016
|
NM_003738.5(PTCH2):c.2661C>T (p.His887=)
|
rs149815763
|
0.00016
|
NM_003738.5(PTCH2):c.3269C>T (p.Ala1090Val)
|
rs202184038
|
0.00016
|
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)
|
rs570091335
|
0.00012
|
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=)
|
rs145690756
|
0.00010
|
NM_002890.3(RASA1):c.1209A>G (p.Pro403=)
|
rs367991324
|
0.00009
|
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)
|
rs150069331
|
0.00008
|
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg)
|
rs767792734
|
0.00007
|
NM_000264.5(PTCH1):c.2497A>G (p.Met833Val)
|
rs771222407
|
0.00005
|
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His)
|
rs771238114
|
0.00005
|
NM_000264.5(PTCH1):c.1067+5G>C
|
rs372657547
|
0.00004
|
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)
|
rs750373573
|
0.00004
|
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val)
|
rs376844749
|
0.00004
|
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn)
|
rs749542089
|
0.00004
|
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His)
|
rs762040036
|
0.00004
|
NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys)
|
rs781539921
|
0.00004
|
NM_000264.5(PTCH1):c.584+10G>A
|
rs765713791
|
0.00004
|
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln)
|
rs185570125
|
0.00004
|
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)
|
rs753002023
|
0.00003
|
NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile)
|
rs938997251
|
0.00003
|
NM_000264.5(PTCH1):c.4321C>T (p.Pro1441Ser)
|
rs746800536
|
0.00003
|
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro)
|
rs372422922
|
0.00003
|
NM_000264.5(PTCH1):c.899C>T (p.Ala300Val)
|
rs1421967825
|
0.00003
|
NM_003738.5(PTCH2):c.2692C>T (p.Arg898Cys)
|
rs759692145
|
0.00003
|
NM_003738.5(PTCH2):c.44C>T (p.Thr15Ile)
|
rs561781541
|
0.00003
|
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)
|
rs747885797
|
0.00003
|
NM_005631.5(SMO):c.1685G>A (p.Arg562Gln)
|
rs121918348
|
0.00003
|
NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr)
|
rs142791675
|
0.00002
|
NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys)
|
rs778627715
|
0.00002
|
NM_000264.5(PTCH1):c.1855G>A (p.Val619Ile)
|
rs1060502266
|
0.00002
|
NM_000264.5(PTCH1):c.3124G>A (p.Val1042Met)
|
rs772406487
|
0.00002
|
NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp)
|
rs773043616
|
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.67G>A (p.Ala23Thr)
|
rs863224654
|
0.00002
|
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn)
|
rs767601899
|
0.00002
|
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val)
|
rs1030456781
|
0.00002
|
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys)
|
rs781204167
|
0.00002
|
NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln)
|
rs751579508
|
0.00002
|
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)
|
rs539161089
|
0.00002
|
NM_000264.5(PTCH1):c.1025T>C (p.Ile342Thr)
|
rs1841403085
|
0.00001
|
NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg)
|
rs1476325987
|
0.00001
|
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys)
|
rs772903899
|
0.00001
|
NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr)
|
rs778455544
|
0.00001
|
NM_000264.5(PTCH1):c.14G>C (p.Gly5Ala)
|
rs864622762
|
0.00001
|
NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val)
|
rs759078774
|
0.00001
|
NM_000264.5(PTCH1):c.1892C>T (p.Thr631Ile)
|
rs727504112
|
0.00001
|
NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met)
|
rs746898855
|
0.00001
|
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)
|
rs757430199
|
0.00001
|
NM_000264.5(PTCH1):c.2172G>C (p.Glu724Asp)
|
rs747274181
|
0.00001
|
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe)
|
rs544963328
|
0.00001
|
NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu)
|
rs923429610
|
0.00001
|
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His)
|
rs754623561
|
0.00001
|
NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg)
|
rs1427672162
|
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.329G>C (p.Gly110Ala)
|
rs1060502284
|
0.00001
|
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met)
|
rs769691754
|
0.00001
|
NM_000264.5(PTCH1):c.3331A>G (p.Lys1111Glu)
|
rs1838665681
|
0.00001
|
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys)
|
rs758520331
|
0.00001
|
NM_000264.5(PTCH1):c.3449+10C>T
|
rs371546179
|
0.00001
|
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys)
|
rs571420165
|
0.00001
|
NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn)
|
rs747181820
|
0.00001
|
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu)
|
rs375857496
|
0.00001
|
NM_000264.5(PTCH1):c.3748C>T (p.Pro1250Ser)
|
rs1060502265
|
0.00001
|
NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser)
|
rs371943557
|
0.00001
|
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)
|
rs978722722
|
0.00001
|
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val)
|
rs777096311
|
0.00001
|
NM_000264.5(PTCH1):c.4063A>G (p.Thr1355Ala)
|
rs864622456
|
0.00001
|
NM_000264.5(PTCH1):c.4115C>T (p.Thr1372Met)
|
rs765348942
|
0.00001
|
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys)
|
rs139535966
|
0.00001
|
NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr)
|
rs111481152
|
0.00001
|
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg)
|
rs587778631
|
0.00001
|
NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg)
|
rs375626922
|
0.00001
|
NM_000264.5(PTCH1):c.4195C>T (p.Pro1399Ser)
|
rs1275384199
|
0.00001
|
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp)
|
rs587780707
|
0.00001
|
NM_000264.5(PTCH1):c.878A>G (p.Asp293Gly)
|
rs768095469
|
0.00001
|
NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg)
|
rs1487227339
|
0.00001
|
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter)
|
rs1204340475
|
0.00001
|
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys)
|
rs768246990
|
0.00001
|
NM_003738.5(PTCH2):c.1493C>T (p.Thr498Met)
|
rs755775675
|
0.00001
|
NM_003738.5(PTCH2):c.3348G>A (p.Pro1116=)
|
rs576830052
|
0.00001
|
NM_003738.5(PTCH2):c.550G>A (p.Val184Met)
|
rs748846701
|
0.00001
|
NM_000264.5(PTCH1):c.1165G>A (p.Glu389Lys)
|
rs1841320331
|
|
NM_000264.5(PTCH1):c.121C>A (p.Arg41Ser)
|
rs1554709496
|
|
NM_000264.5(PTCH1):c.1221TCA[1] (p.His408del)
|
rs1489690325
|
|
NM_000264.5(PTCH1):c.1242C>G (p.Asn414Lys)
|
|
|
NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu)
|
rs759493890
|
|
NM_000264.5(PTCH1):c.133C>G (p.Pro45Ala)
|
|
|
NM_000264.5(PTCH1):c.1342C>G (p.Leu448Val)
|
rs537871675
|
|
NM_000264.5(PTCH1):c.1417G>C (p.Gly473Arg)
|
|
|
NM_000264.5(PTCH1):c.148C>G (p.Leu50Val)
|
|
|
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val)
|
rs1554698288
|
|
NM_000264.5(PTCH1):c.155G>C (p.Arg52Pro)
|
rs777207639
|
|
NM_000264.5(PTCH1):c.1571A>C (p.Glu524Ala)
|
rs2118281472
|
|
NM_000264.5(PTCH1):c.157C>T (p.Pro53Ser)
|
|
|
NM_000264.5(PTCH1):c.1972A>G (p.Met658Val)
|
rs1448553293
|
|
NM_000264.5(PTCH1):c.2068G>T (p.Val690Phe)
|
|
|
NM_000264.5(PTCH1):c.2102G>A (p.Ser701Asn)
|
|
|
NM_000264.5(PTCH1):c.2105C>T (p.Pro702Leu)
|
rs368362152
|
|
NM_000264.5(PTCH1):c.2120C>G (p.Ser707Cys)
|
rs1840288367
|
|
NM_000264.5(PTCH1):c.2180G>A (p.Cys727Tyr)
|
|
|
NM_000264.5(PTCH1):c.2190G>C (p.Trp730Cys)
|
rs1131690992
|
|
NM_000264.5(PTCH1):c.2285G>A (p.Gly762Glu)
|
rs1840110120
|
|
NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter)
|
rs766313615
|
|
NM_000264.5(PTCH1):c.2333C>A (p.Thr778Lys)
|
|
|
NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter)
|
rs1840094606
|
|
NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr)
|
rs1554694376
|
|
NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val)
|
rs1554694372
|
|
NM_000264.5(PTCH1):c.2470A>G (p.Arg824Gly)
|
|
|
NM_000264.5(PTCH1):c.2672G>C (p.Gly891Ala)
|
|
|
NM_000264.5(PTCH1):c.280A>G (p.Ile94Val)
|
rs1843660253
|
|
NM_000264.5(PTCH1):c.2825G>A (p.Arg942Gln)
|
rs767225445
|
|
NM_000264.5(PTCH1):c.3064A>G (p.Ile1022Val)
|
rs1003711941
|
|
NM_000264.5(PTCH1):c.308T>C (p.Val103Ala)
|
|
|
NM_000264.5(PTCH1):c.3223G>A (p.Gly1075Arg)
|
rs1838926237
|
|
NM_000264.5(PTCH1):c.3268G>A (p.Val1090Ile)
|
|
|
NM_000264.5(PTCH1):c.3278G>A (p.Gly1093Glu)
|
|
|
NM_000264.5(PTCH1):c.3340A>T (p.Arg1114Trp)
|
rs587776689
|
|
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)
|
rs201605273
|
|
NM_000264.5(PTCH1):c.3355C>G (p.Leu1119Val)
|
|
|
NM_000264.5(PTCH1):c.3394T>A (p.Ser1132Thr)
|
rs878853856
|
|
NM_000264.5(PTCH1):c.3400C>G (p.Leu1134Val)
|
rs1838656000
|
|
NM_000264.5(PTCH1):c.3443T>A (p.Ile1148Asn)
|
|
|
NM_000264.5(PTCH1):c.3463G>A (p.Val1155Met)
|
rs1588519562
|
|
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys)
|
rs767535853
|
|
NM_000264.5(PTCH1):c.3590C>G (p.Ser1197Cys)
|
rs1588517764
|
|
NM_000264.5(PTCH1):c.3712C>T (p.Leu1238Phe)
|
|
|
NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu)
|
rs1838213882
|
|
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)
|
|
|
NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)
|
|
|
NM_000264.5(PTCH1):c.37C>T (p.Arg13Cys)
|
rs779791579
|
|
NM_000264.5(PTCH1):c.3805G>A (p.Val1269Met)
|
rs1838059096
|
|
NM_000264.5(PTCH1):c.3856C>T (p.Pro1286Ser)
|
|
|
NM_000264.5(PTCH1):c.3901C>T (p.Gln1301Ter)
|
|
|
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu)
|
rs779365332
|
|
NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs)
|
rs761353734
|
|
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser)
|
rs762725821
|
|
NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr)
|
rs896779358
|
|
NM_000264.5(PTCH1):c.4009G>A (p.Ala1337Thr)
|
|
|
NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)
|
rs1218728112
|
|
NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys)
|
rs1412873206
|
|
NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp)
|
rs786204103
|
|
NM_000264.5(PTCH1):c.4077C>A (p.Ser1359Arg)
|
|
|
NM_000264.5(PTCH1):c.4139C>T (p.Ala1380Val)
|
rs777641179
|
|
NM_000264.5(PTCH1):c.4160CTGGGC[3] (p.1387PG[3])
|
rs1060502272
|
|
NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu)
|
rs1368334005
|
|
NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu)
|
rs772802013
|
|
NM_000264.5(PTCH1):c.4315G>T (p.Glu1439Ter)
|
rs2136570815
|
|
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser)
|
rs972576439
|
|
NM_000264.5(PTCH1):c.4341C>A (p.Asn1447Lys)
|
|
|
NM_000264.5(PTCH1):c.52_57del (p.Ser18_Gly19del)
|
|
|
NM_000264.5(PTCH1):c.566A>G (p.His189Arg)
|
|
|
NM_000264.5(PTCH1):c.659T>C (p.Ile220Thr)
|
|
|
NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile)
|
rs1266754583
|
|
NM_000264.5(PTCH1):c.68C>A (p.Ala23Asp)
|
rs761204245
|
|
NM_000264.5(PTCH1):c.755C>G (p.Pro252Arg)
|
rs1554700016
|
|
NM_000264.5(PTCH1):c.76C>T (p.Arg26Trp)
|
rs1408427240
|
|
NM_000264.5(PTCH1):c.85G>A (p.Gly29Arg)
|
rs2118909022
|
|
NM_000264.5(PTCH1):c.899C>A (p.Ala300Asp)
|
|
|
NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter)
|
rs1564055259
|
|
NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe)
|
rs1380199153
|
|
NM_001083603.3(PTCH1):c.2T>C (p.Met1Thr)
|
rs1039069537
|
|
NM_001083603.3(PTCH1):c.74del (p.Pro25fs)
|
rs1350435311
|
|
NM_002890.3(RASA1):c.1193G>T (p.Arg398Leu)
|
rs137853214
|
|
NM_002890.3(RASA1):c.1198A>G (p.Lys400Glu)
|
rs137853215
|
|
NM_002890.3(RASA1):c.1201A>G (p.Ile401Val)
|
rs137853216
|
|
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter)
|
rs863223718
|
|
NM_002890.3(RASA1):c.239C>T (p.Ala80Val)
|
rs764720303
|
|
NM_002890.3(RASA1):c.2462T>A (p.Ile821Lys)
|
rs2112495755
|
|
NM_002890.3(RASA1):c.2925+1G>A
|
rs1762099168
|
|
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter)
|
rs1060503440
|
|
NM_002890.3(RASA1):c.334G>A (p.Gly112Arg)
|
rs2112222851
|
|
NM_002890.3(RASA1):c.539+298G>A
|
|
|
NM_002890.3(RASA1):c.613_617del (p.Leu205fs)
|
rs1060503441
|
|
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter)
|
rs1554044823
|
|
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr)
|
rs11573586
|
|
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=)
|
rs111471526
|
|
NM_003738.5(PTCH2):c.3185T>G (p.Val1062Gly)
|
rs1652996959
|
|
NM_003738.5(PTCH2):c.3238C>G (p.His1080Asp)
|
|
|
NM_003738.5(PTCH2):c.3357+5C>T
|
rs587776628
|
|
NM_005631.5(SMO):c.1604G>T (p.Trp535Leu)
|
rs121918347
|
|
PTCH1, PRO-SER, 451C-T
|
|
|