Hedgehog Signaling Pathway Database
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Human Mutations -
GPC5
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
A > V
155
N
DBSNP:rs553717
intronic
90849600
C T
forward
DBSNP:rs9515923
intronic
90849678
G T
forward
DBSNP:rs9523325
intronic
90850109
A G
forward
DBSNP:rs9523326
intronic
90850387
A G
forward
DBSNP:rs7328355
intronic
90851204
C T
reverse
DBSNP:rs3848047
intronic
90851297
C T
forward
DBSNP:rs17668103
intronic
90851417
G T
reverse
DBSNP:rs4090120
intronic
90851647
A G
forward
DBSNP:rs17643188
intronic
90851960
C T
forward
DBSNP:rs7998725
intronic
90854912
A G
reverse
DBSNP:rs1324062
intronic
90855257
A G
forward
DBSNP:rs1330064
intronic
90855370
A T
forward
DBSNP:rs1330065
intronic
90855370
A T
forward
DBSNP:rs9523327
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90856889
A G
reverse
DBSNP:rs2147190
intronic
90859070
C T
forward
DBSNP:rs16945885
intronic
90859360
A G
forward
DBSNP:rs12428047
intronic
90859879
A G
forward
DBSNP:rs9523330
intronic
90860332
C T
forward
DBSNP:rs16945889
intronic
90860625
A G
forward
DBSNP:rs9556083
intronic
90860695
A G
forward
DBSNP:rs12020339
intronic
90860699
C T
forward
DBSNP:rs10467326
intronic
90860802
C T
forward
DBSNP:rs10467327
intronic
90860822
C T
forward
DBSNP:rs9589217
intronic
90861681
C G
forward
DBSNP:rs9589218
intronic
90861814
A C
forward
DBSNP:rs17643246
intronic
90861956
C T
forward
DBSNP:rs9589219
intronic
90862096
C T
forward
DBSNP:rs9589220
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90862645
A G
forward
DBSNP:rs17668181
intronic
90862721
C T
forward
DBSNP:rs7331615
intronic
90863045
A C
forward
DBSNP:rs9556084
intronic
90863094
C T
forward
DBSNP:rs7332464
intronic
90863289
A C
forward
DBSNP:rs4773628
intronic
90863584
G T
reverse
DBSNP:rs3848048
intronic
90864045
C T
forward
DBSNP:rs12874978
intronic
90864438
A G
forward
DBSNP:rs8000363
intronic
90865097
A G
forward
DBSNP:rs12385884
intronic
90865936
C G
forward
DBSNP:rs9560785
intronic
90866405
A G
forward
DBSNP:rs9560786
intronic
90866901
A C
forward
DBSNP:rs12872130
intronic
90866993
A G
forward
DBSNP:rs9556085
intronic
90867075
A G
forward
DBSNP:rs7328259
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90867332
G T
forward
DBSNP:rs11620426
intronic
90867353
G T
forward
DBSNP:rs7333580
intronic
90867639
C T
forward
DBSNP:rs7335640
intronic
90867978
A G
forward
DBSNP:rs16945906
intronic
90868110
A G
reverse
DBSNP:rs3848049
intronic
90868310
A C
forward
DBSNP:rs12429392
intronic
90868994
A G
forward
DBSNP:rs9589222
intronic
90869226
C G
forward
DBSNP:rs16945908
intronic
90869618
A G
forward
DBSNP:rs9589223
intronic
90869973
C T
forward
DBSNP:rs3783052
intronic
90870108
A C
reverse
DBSNP:rs3848050
intronic
90870111
C T
reverse
DBSNP:rs3848051
intronic
90870347
C T
forward
DBSNP:rs12561118
intronic
90870599
A T
forward
DBSNP:rs9583922
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90871697
C T
forward
DBSNP:rs9560787
intronic
90872526
G T
forward
DBSNP:rs11069997
intronic
90872601
C G
forward
DBSNP:rs9583924
intronic
90873774
C T
reverse
DBSNP:rs1980735
intronic
90873882
C T
forward
DBSNP:rs9589225
intronic
90874525
A G
forward
DBSNP:rs17668235
intronic
90874695
A G
reverse
DBSNP:rs1974027
intronic
90874744
A G
reverse
DBSNP:rs2147196
intronic
90874820
A G
reverse
DBSNP:rs1974026
intronic
90875045
C T
reverse
DBSNP:rs1980734
intronic
90875120
A G
forward
DBSNP:rs4270036
intronic
90875315
A C
reverse
DBSNP:rs1408250
intronic
90875368
A G
forward
DBSNP:rs11839216
intronic
90875712
C T
forward
DBSNP:rs11842155
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90876023
C T
reverse
DBSNP:rs3848053
intronic
90876101
C T
forward
DBSNP:rs9583925
intronic
90876254
C T
forward
DBSNP:rs7994689
intronic
90876465
C T
forward
DBSNP:rs9589226
intronic
90877147
G T
reverse
DBSNP:rs4001655
intronic
90877532
A T
forward
DBSNP:rs12865012
intronic
90877544
A G
forward
DBSNP:rs9589227
intronic
90877568
A G
forward
DBSNP:rs9523332
intronic
90877580
A G
forward
DBSNP:rs2351862
intronic
90877621
C G
forward
DBSNP:rs7489744
intronic
90878355
C T
forward
DBSNP:rs12017817
intronic
90878388
C G
forward
DBSNP:rs9560788
intronic
90879097
C T
forward
DBSNP:rs9560789
intronic
90879097
C T
forward
DBSNP:rs12561389
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90879884
A C
forward
DBSNP:rs9589229
intronic
90880483
C T
forward
DBSNP:rs7333478
intronic
90881480
C T
forward
DBSNP:rs9583926
intronic
90881551
C T
forward
DBSNP:rs9583927
intronic
90882106
A G
forward
DBSNP:rs9556086
intronic
90882231
A G
forward
DBSNP:rs9556087
intronic
90882244
A T
forward
DBSNP:rs13378154
intronic
90882302
A G
forward
DBSNP:rs11843981
intronic
90882468
A G
forward
DBSNP:rs13378350
intronic
90882639
C T
forward
DBSNP:rs13378852
intronic
90882705
A G
forward
DBSNP:rs7982915
intronic
90882767
C T
forward
DBSNP:rs13378856
intronic
90882862
C T
forward
DBSNP:rs7987834
intronic
90883039
C T
forward
DBSNP:rs1408249
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90883287
A C
forward
DBSNP:rs12863915
intronic
90883326
A G
forward
DBSNP:rs7324710
intronic
90883741
C T
forward
DBSNP:rs9560790
intronic
90884141
C T
forward
DBSNP:rs9583928
intronic
90884624
A G
forward
DBSNP:rs9583929
intronic
90884791
C G
forward
DBSNP:rs9589231
intronic
90885534
A G
forward
DBSNP:rs12877112
intronic
90885689
C T
forward
DBSNP:rs11616215
intronic
90885836
A G
forward
DBSNP:rs11069998
intronic
90886025
C T
forward
DBSNP:rs12017398
intronic
90886104
C T
forward
DBSNP:rs12017400
intronic
90886227
C T
forward
DBSNP:rs12016720
intronic
90886888
C T
forward
DBSNP:rs12016864
intronic
90887839
A G
forward
DBSNP:rs9560793
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90888251
A C
forward
DBSNP:rs12871672
intronic
90888885
C T
forward
DBSNP:rs9742413
intronic
90888991
C T
forward
DBSNP:rs9741141
intronic
90889121
A G
forward
DBSNP:rs7322144
intronic
90889193
A G
forward
DBSNP:rs2147193
intronic
90889256
A T
forward
DBSNP:rs2147194
intronic
90889327
G T
forward
DBSNP:rs9523334
intronic
90889469
A G
forward
DBSNP:rs7329517
intronic
90889630
A G
forward
DBSNP:rs7327768
intronic
90890356
A G
forward
DBSNP:rs2147195
intronic
90890599
A G
forward
DBSNP:rs11840977
intronic
90891109
A G
forward
DBSNP:rs7337464
intronic
90891718
A C
forward
DBSNP:rs9989098
intronic
90892009
C T
forward
DBSNP:rs4771833
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90892876
A T
forward
DBSNP:rs1324065
intronic
90892975
A G
forward
DBSNP:rs4773630
intronic
90893127
C T
forward
DBSNP:rs7332432
intronic
90893517
G T
forward
DBSNP:rs9560795
intronic
90893934
G T
forward
DBSNP:rs9301729
intronic
90894008
A G
forward
DBSNP:rs9560796
intronic
90894164
A G
forward
DBSNP:rs9583930
intronic
90894374
G T
forward
DBSNP:rs9523336
intronic
90894401
A G
forward
DBSNP:rs9560797
intronic
90894521
A T
forward
DBSNP:rs9560798
intronic
90894527
A G
forward
DBSNP:rs9583931
intronic
90895792
C T
forward
DBSNP:rs7322435
intronic
90896201
C T
forward
DBSNP:rs9589233
intronic
90896289
C G
forward
DBSNP:rs9589234
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90897078
A T
forward
DBSNP:rs7335359
intronic
90897412
G T
forward
DBSNP:rs7996722
intronic
90897698
A G
forward
DBSNP:rs7334049
intronic
90897780
C T
forward
DBSNP:rs7335677
intronic
90897819
A G
forward
DBSNP:rs12372844
intronic
90899207
G T
forward
DBSNP:rs9589235
intronic
90899243
C T
forward
DBSNP:rs9589236
intronic
90899291
G T
forward
DBSNP:rs9589237
intronic
90899354
A C
forward
DBSNP:rs9589238
intronic
90899660
G T
forward
DBSNP:rs1853582
intronic
90899725
A G
forward
DBSNP:rs1853583
intronic
90899860
C T
forward
DBSNP:rs17557039
intronic
90900145
A G
forward
DBSNP:rs12855939
intronic
90900354
A G
forward
DBSNP:rs12184850
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90900833
A T
forward
DBSNP:rs4344592
intronic
90901004
A G
forward
DBSNP:rs9589239
intronic
90901195
C T
forward
DBSNP:rs9515925
intronic
90901577
C T
forward
DBSNP:rs9589240
intronic
90901710
G T
forward
DBSNP:rs1951903
intronic
90901791
C T
forward
DBSNP:rs1535809
intronic
90901791
C T
forward
DBSNP:rs9589241
intronic
90902572
A G
forward
DBSNP:rs13378776
intronic
90902647
C G
forward
DBSNP:rs7333439
intronic
90903112
G T
forward
DBSNP:rs7332889
intronic
90903226
A G
forward
DBSNP:rs7335393
intronic
90903304
A C
forward
DBSNP:rs12876030
intronic
90903598
C T
forward
DBSNP:rs1924455
intronic
90903735
C T
forward
DBSNP:rs4773631
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90906268
C T
forward
DBSNP:rs16945959
intronic
90906670
G T
forward
DBSNP:rs9560799
intronic
90906701
A C
forward
DBSNP:rs9560800
intronic
90906859
A G
forward
DBSNP:rs9560801
intronic
90906997
A G
forward
DBSNP:rs9560802
intronic
90907362
A G
forward
DBSNP:rs571599
intronic
90908348
A G
forward
DBSNP:rs604383
intronic
90908499
A G
forward
DBSNP:rs604939
intronic
90908499
A G
forward
DBSNP:rs9560803
intronic
90908543
A G
forward
DBSNP:rs13378691
intronic
90909069
A G
forward
DBSNP:rs828811
intronic
90909107
A G
forward
DBSNP:rs617868
intronic
90909279
C T
reverse
DBSNP:rs511979
intronic
90909482
A G
forward
DBSNP:rs12020805
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90910296
C T
forward
DBSNP:rs633460
intronic
90910361
A C
forward
DBSNP:rs2351864
intronic
90910465
A G
forward
DBSNP:rs7319174
intronic
90910945
A G
forward
DBSNP:rs17735863
intronic
90911516
A G
forward
DBSNP:rs9589242
intronic
90911836
G T
forward
DBSNP:rs661138
intronic
90912017
A C
forward
DBSNP:rs534212
intronic
90912182
C T
forward
DBSNP:rs662547
intronic
90912367
A T
forward
DBSNP:rs12877731
intronic
90912834
A G
forward
DBSNP:rs505797
intronic
90912913
A C
reverse
DBSNP:rs10492620
intronic
90912970
G T
forward
DBSNP:rs16945971
intronic
90913389
A G
forward
DBSNP:rs3848054
intronic
90913446
A C
forward
DBSNP:rs678686
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90913783
A G
forward
DBSNP:rs552157
intronic
90913858
C T
forward
DBSNP:rs9560805
intronic
90914161
A G
forward
DBSNP:rs548485
intronic
90915224
G T
forward
DBSNP:rs852918
intronic
90915809
A G
forward
DBSNP:rs628669
intronic
90915966
G T
forward
DBSNP:rs9301730
intronic
90916386
A G
forward
DBSNP:rs9560806
intronic
90916984
A G
forward
DBSNP:rs3858831
intronic
90917266
A G
forward
DBSNP:rs4771834
intronic
90917555
G T
reverse
DBSNP:rs564496
intronic
90917855
C T
forward
DBSNP:rs658185
intronic
90918011
A G
forward
DBSNP:rs7319666
intronic
90918199
A G
forward
DBSNP:rs659897
intronic
90918199
A G
forward
DBSNP:rs9523338
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90918302
A T
forward
DBSNP:rs7320241
intronic
90918623
C T
forward
DBSNP:rs7318926
intronic
90918871
C T
forward
DBSNP:rs510465
intronic
90919247
C T
forward
DBSNP:rs2209246
intronic
90919361
C T
forward
DBSNP:rs505889
intronic
90919445
C T
forward
DBSNP:rs861193
intronic
90919691
A T
forward
DBSNP:rs481729
intronic
90919722
A G
forward
DBSNP:rs9560807
intronic
90919761
A G
forward
DBSNP:rs10851314
intronic
90919833
G T
forward
DBSNP:rs17404582
intronic
90920134
A C
forward
DBSNP:rs9560808
intronic
90920238
C G
forward
DBSNP:rs476977
intronic
90920510
A T
forward
DBSNP:rs582961
intronic
90920540
A G
forward
DBSNP:rs583001
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90920967
A G
forward
DBSNP:rs9301731
intronic
90921037
C T
forward
DBSNP:rs4773632
intronic
90922056
C T
forward
DBSNP:rs3903848
intronic
90922314
C T
forward
DBSNP:rs7334294
intronic
90922485
A G
reverse
DBSNP:rs612573
intronic
90922485
C T
forward
DBSNP:rs9515928
intronic
90922646
G T
reverse
DBSNP:rs756427
intronic
90923123
A T
forward
DBSNP:rs497795
intronic
90923135
A G
forward
DBSNP:rs9560809
intronic
90923293
A G
forward
DBSNP:rs9589243
intronic
90923458
A T
forward
DBSNP:rs627351
intronic
90923464
A G
forward
DBSNP:rs1924456
intronic
90923568
C G
forward
DBSNP:rs12866836
intronic
90923572
C G
forward
DBSNP:rs12865673
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90924773
C T
forward
DBSNP:rs653774
intronic
90925132
A T
forward
DBSNP:rs655169
intronic
90925429
G T
forward
DBSNP:rs9301732
intronic
90926029
C T
forward
DBSNP:rs9589244
intronic
90926029
C T
forward
DBSNP:rs12017355
intronic
90926059
C T
forward
DBSNP:rs9589245
intronic
90926417
C T
forward
DBSNP:rs9515929
intronic
90926606
A T
forward
DBSNP:rs591140
intronic
90926695
A G
forward
DBSNP:rs4620821
intronic
90926846
C T
forward
DBSNP:rs4773633
intronic
90926970
A G
reverse
DBSNP:rs1336210
intronic
90927043
A T
forward
DBSNP:rs9301733
intronic
90927245
A G
forward
DBSNP:rs7985186
intronic
90927612
A T
forward
DBSNP:rs9523340
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90928296
A C
forward
DBSNP:rs9589247
intronic
90929079
C T
forward
DBSNP:rs503330
intronic
90929081
C T
forward
DBSNP:rs9589253
intronic
90929116
C T
forward
DBSNP:rs9560810
intronic
90929135
A T
forward
DBSNP:rs9583935
intronic
90929136
A T
forward
DBSNP:rs9583936
intronic
90929193
C G
forward
DBSNP:rs9556092
intronic
90929399
C T
forward
DBSNP:rs9556093
intronic
90929465
C G
forward
DBSNP:rs9560812
intronic
90930472
A G
forward
DBSNP:rs7997706
intronic
90930661
A T
forward
DBSNP:rs12876167
intronic
90930699
A G
forward
DBSNP:rs7996058
intronic
90931610
G T
forward
DBSNP:rs9560813
intronic
90931942
C G
forward
DBSNP:rs9560814
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90932220
C T
forward
DBSNP:rs7987869
intronic
90932489
C G
forward
DBSNP:rs9515930
intronic
90932581
G T
forward
DBSNP:rs7986262
intronic
90933196
C T
forward
DBSNP:rs7324995
intronic
90933346
A G
forward
DBSNP:rs9523342
intronic
90933393
A T
forward
DBSNP:rs489771
intronic
90933438
A G
forward
DBSNP:rs9515931
intronic
90934209
C T
forward
DBSNP:rs9589254
intronic
90934383
A G
forward
DBSNP:rs9515932
intronic
90935387
A G
forward
DBSNP:rs3848055
intronic
90935387
A G
forward
DBSNP:rs9556094
intronic
90935491
A G
forward
DBSNP:rs605685
intronic
90935773
A G
forward
DBSNP:rs9589255
intronic
90936596
A G
forward
DBSNP:rs4771835
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90937449
C T
reverse
DBSNP:rs648167
intronic
90937545
C T
reverse
DBSNP:rs647716
intronic
90937645
G T
forward
DBSNP:rs9560815
intronic
90938367
A G
forward
DBSNP:rs7992192
intronic
90938374
C T
reverse
DBSNP:rs2147192
intronic
90938458
A G
forward
DBSNP:rs9560816
intronic
90938499
C T
reverse
DBSNP:rs2147191
intronic
90938558
C T
forward
DBSNP:rs9556095
intronic
90938675
C T
reverse
DBSNP:rs632522
intronic
90938693
C T
forward
DBSNP:rs9523343
intronic
90938919
C T
reverse
DBSNP:rs828809
intronic
90939248
C G
reverse
DBSNP:rs828808
intronic
90939398
C T
reverse
DBSNP:rs828807
intronic
90939407
C T
reverse
DBSNP:rs3848056
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90939481
A C
reverse
DBSNP:rs828806
intronic
90939491
A G
reverse
DBSNP:rs3848057
intronic
90940103
C T
reverse
DBSNP:rs588826
intronic
90940309
C T
reverse
DBSNP:rs576149
intronic
90940571
G T
reverse
DBSNP:rs586945
intronic
90940582
A C
forward
DBSNP:rs9583937
intronic
90940957
A G
reverse
DBSNP:rs682733
intronic
90941106
A C
reverse
DBSNP:rs681903
intronic
90941592
C T
reverse
DBSNP:rs679631
intronic
90941774
A G
forward
DBSNP:rs9583938
intronic
90941774
A G
forward
DBSNP:rs12018628
intronic
90941814
C T
reverse
DBSNP:rs520113
intronic
90942286
G T
reverse
DBSNP:rs666433
intronic
90942708
G T
forward
DBSNP:rs7491998
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90943343
A C
forward
DBSNP:rs9560817
intronic
90943344
G T
forward
DBSNP:rs6492547
intronic
90943490
A G
forward
DBSNP:rs9583939
intronic
90943571
C G
reverse
DBSNP:rs650365
intronic
90943824
A C
forward
DBSNP:rs4771836
intronic
90944038
G T
forward
DBSNP:rs4773634
intronic
90944335
C T
forward
DBSNP:rs9556097
intronic
90944336
A G
forward
DBSNP:rs13378163
intronic
90944383
G T
forward
DBSNP:rs13378164
intronic
90944604
A T
forward
DBSNP:rs9560818
intronic
90944610
A T
forward
DBSNP:rs9560819
intronic
90945279
C G
forward
DBSNP:rs7986623
intronic
90945713
A G
forward
DBSNP:rs9560820
intronic
90945734
C G
forward
DBSNP:rs9589257
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90946016
A G
forward
DBSNP:rs9589258
intronic
90946147
A G
forward
DBSNP:rs9589259
intronic
90946286
A T
forward
DBSNP:rs13379020
intronic
90946293
A T
forward
DBSNP:rs13379021
intronic
90946336
C T
forward
DBSNP:rs13378136
intronic
90946383
A G
forward
DBSNP:rs2351865
intronic
90946405
A C
forward
DBSNP:rs13379018
intronic
90946448
C T
forward
DBSNP:rs9560821
intronic
90946448
C T
forward
DBSNP:rs12561243
intronic
90946723
C T
forward
DBSNP:rs9556098
intronic
90946860
A T
forward
DBSNP:rs12876890
intronic
90946866
A G
forward
DBSNP:rs12876896
intronic
90946874
C G
forward
DBSNP:rs12876416
intronic
90946875
A G
forward
DBSNP:rs12876900
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90947049
C T
reverse
DBSNP:rs553945
intronic
90947289
C T
reverse
DBSNP:rs1316585
intronic
90947353
A G
forward
DBSNP:rs950725
intronic
90947413
A C
reverse
DBSNP:rs1414703
intronic
90947643
C T
forward
DBSNP:rs7987479
intronic
90947834
A T
forward
DBSNP:rs12867986
intronic
90947835
A C
forward
DBSNP:rs12862240
intronic
90947870
A T
forward
DBSNP:rs12868016
intronic
90947932
C G
forward
DBSNP:rs12859701
intronic
90947961
G T
forward
DBSNP:rs12868156
intronic
90947962
G T
forward
DBSNP:rs12868157
intronic
90948224
A G
forward
DBSNP:rs7983854
intronic
90948670
C G
reverse
DBSNP:rs496392
intronic
90948697
C T
forward
DBSNP:rs7999520
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90949237
A G
forward
DBSNP:rs12877096
intronic
90949238
A G
forward
DBSNP:rs12855110
intronic
90950040
A C
reverse
DBSNP:rs610028
intronic
90950095
C T
reverse
DBSNP:rs694475
intronic
90950382
A G
reverse
DBSNP:rs1541138
intronic
90951006
A G
forward
DBSNP:rs7991059
intronic
90951164
C T
forward
DBSNP:rs9560822
intronic
90951239
A G
reverse
DBSNP:rs595185
intronic
90951249
C T
forward
DBSNP:rs12585040
intronic
90951328
C T
forward
DBSNP:rs12585201
intronic
90951950
A G
forward
DBSNP:rs12875613
intronic
90952088
A G
forward
DBSNP:rs12018894
intronic
90952565
A C
forward
DBSNP:rs2210869
intronic
90953361
C T
forward
DBSNP:rs9589261
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90953697
C T
reverse
DBSNP:rs828805
intronic
90953747
A C
reverse
DBSNP:rs1336208
intronic
90953768
C G
reverse
DBSNP:rs672485
intronic
90953838
A G
reverse
DBSNP:rs672034
intronic
90954069
A C
forward
DBSNP:rs7987931
intronic
90954072
A C
forward
DBSNP:rs7987933
intronic
90954342
A G
forward
DBSNP:rs659614
intronic
90954468
C T
forward
DBSNP:rs7997845
intronic
90954632
C T
forward
DBSNP:rs9589262
intronic
90954774
A G
forward
DBSNP:rs9523346
intronic
90954916
A G
reverse
DBSNP:rs828804
intronic
90954921
A G
forward
DBSNP:rs7993829
intronic
90954966
A G
forward
DBSNP:rs11617964
intronic
90955013
A G
forward
DBSNP:rs11616961
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90955624
A G
reverse
DBSNP:rs493369
intronic
90955675
A G
forward
DBSNP:rs9589263
intronic
90956922
A C
reverse
DBSNP:rs549532
intronic
90957351
A G
forward
DBSNP:rs9589264
intronic
90957444
A G
reverse
DBSNP:rs828803
intronic
90957877
A C
reverse
DBSNP:rs613005
intronic
90958112
G T
forward
DBSNP:rs16946059
intronic
90958399
C T
reverse
DBSNP:rs600498
intronic
90958576
A C
forward
DBSNP:rs7984567
intronic
90958882
A G
forward
DBSNP:rs7983842
intronic
90958940
A G
forward
DBSNP:rs9589265
intronic
90958964
G T
forward
DBSNP:rs9589266
intronic
90959745
C T
forward
DBSNP:rs9523347
intronic
90960819
A T
reverse
DBSNP:rs1572431
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90961358
C T
forward
DBSNP:rs16946071
intronic
90961446
A T
forward
DBSNP:rs9589269
intronic
90961909
A T
reverse
DBSNP:rs4133083
intronic
90962052
C G
forward
DBSNP:rs9589270
intronic
90962052
C G
forward
DBSNP:rs12017881
intronic
90962195
A G
forward
DBSNP:rs11840058
intronic
90962368
C G
forward
DBSNP:rs11841625
intronic
90963152
G T
forward
DBSNP:rs4771837
intronic
90963453
A G
forward
DBSNP:rs9523348
intronic
90963761
C T
forward
DBSNP:rs2184727
intronic
90963897
A G
forward
DBSNP:rs9589271
intronic
90964012
A G
forward
DBSNP:rs7331720
intronic
90964512
C G
forward
DBSNP:rs9589272
intronic
90965034
A G
forward
DBSNP:rs7338550
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90965176
A G
forward
DBSNP:rs11841240
intronic
90965473
A G
reverse
DBSNP:rs1541140
intronic
90966420
A G
forward
DBSNP:rs9589274
intronic
90966553
A T
forward
DBSNP:rs7990870
intronic
90967833
C T
forward
DBSNP:rs2351866
intronic
90967901
A G
forward
DBSNP:rs2351867
intronic
90968020
A G
forward
DBSNP:rs2351868
intronic
90968105
A C
forward
DBSNP:rs2351869
intronic
90968204
C G
forward
DBSNP:rs12323138
intronic
90969098
C T
reverse
DBSNP:rs1855905
intronic
90969454
A G
forward
DBSNP:rs17405729
intronic
90969707
G T
forward
DBSNP:rs7317657
intronic
90969881
C T
forward
DBSNP:rs9301735
intronic
90970072
C G
forward
DBSNP:rs1062212
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90970278
A G
forward
DBSNP:rs2351871
intronic
90970369
A T
forward
DBSNP:rs7318604
intronic
90970461
C G
forward
DBSNP:rs8002835
intronic
90970947
A G
forward
DBSNP:rs12429657
intronic
90970953
A G
forward
DBSNP:rs12430582
intronic
90970962
C T
forward
DBSNP:rs13378657
intronic
90970993
C T
reverse
DBSNP:rs1591534
intronic
90971290
A T
forward
DBSNP:rs16946095
intronic
90971993
A G
forward
DBSNP:rs9515934
intronic
90973271
A C
forward
DBSNP:rs11618176
intronic
90973794
A G
forward
DBSNP:rs9589275
intronic
90974110
A G
forward
DBSNP:rs4771838
intronic
90974144
A T
forward
DBSNP:rs4773637
intronic
90974144
A T
forward
DBSNP:rs9523350
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90974877
C T
forward
DBSNP:rs16946103
intronic
90974919
A C
forward
DBSNP:rs7322556
intronic
90975044
C T
forward
DBSNP:rs16946104
intronic
90975299
A G
forward
DBSNP:rs17405958
intronic
90975361
C T
forward
DBSNP:rs4143764
intronic
90975899
G T
forward
DBSNP:rs9589276
intronic
90976181
A G
forward
DBSNP:rs11620219
intronic
90976541
A C
forward
DBSNP:rs9523351
intronic
90976857
G T
reverse
DBSNP:rs2065853
intronic
90976896
A G
reverse
DBSNP:rs10492619
intronic
90977655
A G
forward
DBSNP:rs13313274
intronic
90977664
A G
forward
DBSNP:rs9583940
intronic
90978171
G T
forward
DBSNP:rs1582104
intronic
90978806
A G
reverse
DBSNP:rs2152578
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90979645
A C
forward
DBSNP:rs9589277
intronic
90979779
A C
forward
DBSNP:rs1541139
intronic
90980472
A C
forward
DBSNP:rs9583941
intronic
90980472
A C
forward
DBSNP:rs10467329
intronic
90980877
G T
forward
DBSNP:rs9301736
intronic
90980921
C T
forward
DBSNP:rs9589278
intronic
90981790
A G
forward
DBSNP:rs1336221
intronic
90982473
C T
forward
DBSNP:rs9301737
intronic
90982493
C T
forward
DBSNP:rs17321293
intronic
90982866
A T
forward
DBSNP:rs4771839
intronic
90983179
A G
forward
DBSNP:rs9589279
intronic
90983201
A G
forward
DBSNP:rs9583942
intronic
90984101
A C
forward
DBSNP:rs9589280
intronic
90984659
A T
reverse
DBSNP:rs1999762
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90985494
C G
reverse
DBSNP:rs2184728
intronic
90986371
A G
forward
DBSNP:rs9589282
intronic
90986513
A G
forward
DBSNP:rs9523352
intronic
90986561
C T
forward
DBSNP:rs9515935
intronic
90986782
C T
forward
DBSNP:rs10161632
intronic
90986949
A G
forward
DBSNP:rs6492551
intronic
90987346
A G
forward
DBSNP:rs1360933
intronic
90988147
C T
forward
DBSNP:rs1414721
intronic
90988282
A G
forward
DBSNP:rs11840563
intronic
90988543
A T
forward
DBSNP:rs7989635
intronic
90988642
A G
forward
DBSNP:rs1414722
intronic
90988691
C T
forward
DBSNP:rs9589283
intronic
90988807
A C
forward
DBSNP:rs7985401
intronic
90988992
C G
forward
DBSNP:rs9589284
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90989095
A C
forward
DBSNP:rs12018558
intronic
90989133
C T
forward
DBSNP:rs9523354
intronic
90989133
C T
forward
DBSNP:rs10851315
intronic
90989402
A G
forward
DBSNP:rs2351873
intronic
90989402
A G
forward
DBSNP:rs9523355
intronic
90989906
A T
forward
DBSNP:rs9556099
intronic
90990067
A G
forward
DBSNP:rs9556100
intronic
90990745
A C
forward
DBSNP:rs9589285
intronic
90991724
A G
forward
DBSNP:rs7489477
intronic
90991744
A T
forward
DBSNP:rs9560823
intronic
90991974
C T
forward
DBSNP:rs9515936
intronic
90992194
C G
forward
DBSNP:rs12583138
intronic
90993236
C T
forward
DBSNP:rs7490394
intronic
90993257
A G
forward
DBSNP:rs7323416
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90993275
C T
forward
DBSNP:rs7490397
intronic
90993352
C T
forward
DBSNP:rs13378261
intronic
90993468
A G
forward
DBSNP:rs13378708
intronic
90994977
A G
forward
DBSNP:rs7999171
intronic
90995179
C T
forward
DBSNP:rs9523357
intronic
90995444
G T
forward
DBSNP:rs12868927
intronic
90995554
A G
forward
DBSNP:rs9523358
intronic
90995781
A G
forward
DBSNP:rs9589286
intronic
90996107
A G
forward
DBSNP:rs16946144
intronic
90996140
A G
reverse
DBSNP:rs1889882
intronic
90996633
G T
forward
DBSNP:rs7325234
intronic
90996781
A T
forward
DBSNP:rs9556101
intronic
90996806
C T
reverse
DBSNP:rs1953620
intronic
90996826
A T
reverse
DBSNP:rs1953619
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
90997217
C T
reverse
DBSNP:rs1953617
intronic
90997902
G T
forward
DBSNP:rs9515937
intronic
90997906
A G
forward
DBSNP:rs9515938
intronic
90998364
C T
reverse
DBSNP:rs1577616
intronic
90998666
C G
forward
DBSNP:rs9589287
intronic
90998888
C T
forward
DBSNP:rs9589288
intronic
90998922
A T
forward
DBSNP:rs9589289
intronic
90999263
C T
forward
DBSNP:rs7998421
intronic
90999344
A G
reverse
DBSNP:rs1832190
intronic
90999633
A T
reverse
DBSNP:rs2152579
intronic
90999887
C T
forward
DBSNP:rs9589290
intronic
90999934
C G
reverse
DBSNP:rs1591535
intronic
90999975
A G
forward
DBSNP:rs9589291
intronic
91000963
A G
reverse
DBSNP:rs1832189
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91001699
C T
forward
DBSNP:rs16946156
intronic
91001814
A G
forward
DBSNP:rs16946160
intronic
91002170
A T
forward
DBSNP:rs4771840
intronic
91002481
C T
forward
DBSNP:rs9589292
intronic
91002538
A G
forward
DBSNP:rs9523360
intronic
91002538
A G
forward
DBSNP:rs10775105
intronic
91002762
A G
reverse
DBSNP:rs1855909
intronic
91002836
A C
reverse
DBSNP:rs1855908
intronic
91002893
C T
reverse
DBSNP:rs1855907
intronic
91002895
A C
reverse
DBSNP:rs1855906
intronic
91003089
C T
reverse
DBSNP:rs1832188
intronic
91003089
A G
forward
DBSNP:rs9523361
intronic
91003384
A C
forward
DBSNP:rs9560824
intronic
91003983
A T
reverse
DBSNP:rs945533
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91004304
C T
forward
DBSNP:rs11841268
intronic
91004922
A G
forward
DBSNP:rs9523363
intronic
91005487
C T
forward
DBSNP:rs16946171
intronic
91007917
C G
forward
DBSNP:rs16946173
intronic
91007993
C T
forward
DBSNP:rs16946176
intronic
91008052
C T
reverse
DBSNP:rs1414720
intronic
91008260
A C
reverse
DBSNP:rs1336220
intronic
91008267
G T
reverse
DBSNP:rs1414719
intronic
91008442
A C
reverse
DBSNP:rs1414718
intronic
91008625
A G
reverse
DBSNP:rs1336219
intronic
91008797
C T
forward
DBSNP:rs4402419
intronic
91009095
A C
forward
DBSNP:rs9560825
intronic
91009628
A G
forward
DBSNP:rs9515939
intronic
91010042
A G
reverse
DBSNP:rs2210871
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91010797
C G
reverse
DBSNP:rs1889881
intronic
91010910
A G
reverse
DBSNP:rs945532
intronic
91011141
A G
reverse
DBSNP:rs1889880
intronic
91011726
A G
forward
DBSNP:rs9301738
intronic
91012138
A G
reverse
DBSNP:rs1336218
intronic
91012186
A G
forward
DBSNP:rs9556103
intronic
91012204
C T
forward
DBSNP:rs9523364
intronic
91012223
A G
forward
DBSNP:rs7324920
intronic
91012700
C T
reverse
DBSNP:rs1953616
intronic
91012793
A G
reverse
DBSNP:rs1572433
intronic
91013347
A T
forward
DBSNP:rs16946190
intronic
91013498
C T
forward
DBSNP:rs7982597
intronic
91013581
G T
forward
DBSNP:rs4771841
intronic
91013800
C T
forward
DBSNP:rs6492552
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91014266
C G
forward
DBSNP:rs6492554
intronic
91014772
C T
reverse
DBSNP:rs1414717
intronic
91015090
A G
forward
DBSNP:rs7983224
intronic
91015164
A C
forward
DBSNP:rs7984663
intronic
91015164
A C
forward
DBSNP:rs9589293
intronic
91015248
G T
forward
DBSNP:rs9515940
intronic
91015720
C T
forward
DBSNP:rs7332002
intronic
91015862
C T
reverse
DBSNP:rs2065852
intronic
91015874
C T
reverse
DBSNP:rs2065851
intronic
91015885
A G
reverse
DBSNP:rs2065850
intronic
91015923
C T
forward
DBSNP:rs7332431
intronic
91016774
A G
reverse
DBSNP:rs2065849
intronic
91016774
C T
forward
DBSNP:rs9583945
intronic
91016992
A T
forward
DBSNP:rs4359314
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91017450
C G
forward
DBSNP:rs9589294
intronic
91018064
A G
forward
DBSNP:rs9583946
intronic
91018444
C G
forward
DBSNP:rs9515941
intronic
91018693
A G
forward
DBSNP:rs9589295
intronic
91019190
A G
forward
DBSNP:rs9523365
intronic
91019256
G T
forward
DBSNP:rs7489514
intronic
91019408
A G
forward
DBSNP:rs7982049
intronic
91019412
A G
forward
DBSNP:rs7982052
intronic
91019716
C T
forward
DBSNP:rs7981964
intronic
91020387
C T
reverse
DBSNP:rs1414716
intronic
91021141
C G
forward
DBSNP:rs17419728
intronic
91021167
C T
forward
DBSNP:rs10047784
intronic
91021763
G T
forward
DBSNP:rs9589296
intronic
91022094
G T
forward
DBSNP:rs9515942
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91022274
A C
forward
DBSNP:rs9560827
intronic
91022472
A G
forward
DBSNP:rs12184514
intronic
91022652
C T
forward
DBSNP:rs10047726
intronic
91022776
A T
forward
DBSNP:rs9301739
intronic
91022799
A T
forward
DBSNP:rs9301740
intronic
91022829
C T
forward
DBSNP:rs10047728
intronic
91023467
A G
forward
DBSNP:rs4773638
intronic
91023796
A G
forward
DBSNP:rs16946226
intronic
91024370
A G
forward
DBSNP:rs7990991
intronic
91024610
C T
forward
DBSNP:rs9589297
intronic
91025812
C T
forward
DBSNP:rs11843825
intronic
91026447
A G
forward
DBSNP:rs9589298
intronic
91026642
A G
forward
DBSNP:rs11841269
intronic
91026681
A T
forward
DBSNP:rs11840290
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91026710
A G
forward
DBSNP:rs12017319
intronic
91027071
G T
forward
DBSNP:rs7140049
intronic
91027350
C G
forward
DBSNP:rs16946237
intronic
91027485
A G
reverse
DBSNP:rs945531
intronic
91028808
A G
forward
DBSNP:rs11839960
intronic
91028813
C G
forward
DBSNP:rs11842904
intronic
91028851
A G
forward
DBSNP:rs17419916
intronic
91029258
C T
reverse
DBSNP:rs870113
intronic
91029433
A G
reverse
DBSNP:rs870112
intronic
91029470
A G
forward
DBSNP:rs17322508
intronic
91029884
C T
forward
DBSNP:rs2351874
intronic
91029888
C T
forward
DBSNP:rs4997768
intronic
91029903
G T
forward
DBSNP:rs12873701
intronic
91030689
C T
forward
DBSNP:rs17420035
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91031599
C G
forward
DBSNP:rs9515943
intronic
91033505
C T
forward
DBSNP:rs11840944
intronic
91034205
C G
forward
DBSNP:rs7992920
intronic
91034970
C G
forward
DBSNP:rs7334340
intronic
91035016
A G
forward
DBSNP:rs7997600
intronic
91035082
A G
forward
DBSNP:rs7334558
intronic
91035934
G T
forward
DBSNP:rs9523366
intronic
91036075
C T
forward
DBSNP:rs7319303
intronic
91036407
G T
forward
DBSNP:rs11843130
intronic
91036455
C T
forward
DBSNP:rs9589300
intronic
91036692
C G
forward
DBSNP:rs9589301
intronic
91037275
C G
forward
DBSNP:rs7324772
intronic
91038007
A G
forward
DBSNP:rs9515944
intronic
91038154
A G
reverse
DBSNP:rs10492618
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91038793
A G
reverse
DBSNP:rs1414714
intronic
91038887
A C
forward
DBSNP:rs9589303
intronic
91039109
C T
reverse
DBSNP:rs10492617
intronic
91039221
A C
reverse
DBSNP:rs10492616
intronic
91039549
C T
forward
DBSNP:rs7332973
intronic
91039629
C T
reverse
DBSNP:rs945530
intronic
91039642
A G
forward
DBSNP:rs9515945
intronic
91039700
C T
forward
DBSNP:rs7333193
intronic
91039784
C G
forward
DBSNP:rs7333385
intronic
91040172
C T
forward
DBSNP:rs7139924
intronic
91040351
A T
forward
DBSNP:rs9523367
intronic
91040370
A C
forward
DBSNP:rs9523368
intronic
91040535
C T
forward
DBSNP:rs12866190
intronic
91040565
A G
reverse
DBSNP:rs1336217
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91041195
C T
reverse
DBSNP:rs1414713
intronic
91041466
A T
forward
DBSNP:rs9523369
intronic
91041466
A T
forward
DBSNP:rs12020691
intronic
91041493
A C
reverse
DBSNP:rs1414712
intronic
91041862
A T
forward
DBSNP:rs7329020
intronic
91042012
G T
forward
DBSNP:rs7322283
intronic
91042513
C T
forward
DBSNP:rs9560828
intronic
91042654
C T
reverse
DBSNP:rs1414711
intronic
91042808
G T
reverse
DBSNP:rs1414710
intronic
91042918
C T
reverse
DBSNP:rs1414709
intronic
91043015
C G
reverse
DBSNP:rs1414708
intronic
91043184
C T
reverse
DBSNP:rs2065856
intronic
91043222
A G
reverse
DBSNP:rs2065855
intronic
91043350
A G
reverse
DBSNP:rs2065854
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91043525
A G
forward
DBSNP:rs7999669
intronic
91043554
A G
forward
DBSNP:rs7999821
intronic
91043596
C T
forward
DBSNP:rs7999181
intronic
91043619
A C
forward
DBSNP:rs7999191
intronic
91043710
A G
forward
DBSNP:rs7998085
intronic
91043757
C T
forward
DBSNP:rs7982960
intronic
91043927
A G
forward
DBSNP:rs7337548
intronic
91044486
A G
forward
DBSNP:rs7319900
intronic
91044580
A G
reverse
DBSNP:rs1336215
intronic
91044695
A T
reverse
DBSNP:rs1336214
intronic
91045172
A G
forward
DBSNP:rs7321257
intronic
91045486
A T
forward
DBSNP:rs9284266
intronic
91045852
G T
forward
DBSNP:rs7995495
intronic
91045880
C T
forward
DBSNP:rs7332178
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91046023
C G
forward
DBSNP:rs9523372
intronic
91046080
C G
reverse
DBSNP:rs1336213
intronic
91047818
A C
forward
DBSNP:rs8002472
intronic
91048041
C T
forward
DBSNP:rs9652155
intronic
91048145
G T
forward
DBSNP:rs7322662
intronic
91048211
C T
forward
DBSNP:rs7322705
intronic
91048300
A G
forward
DBSNP:rs7982054
intronic
91048455
A G
forward
DBSNP:rs7995778
intronic
91048477
A G
forward
DBSNP:rs9560829
intronic
91048546
A C
forward
DBSNP:rs6492555
intronic
91049089
A G
forward
DBSNP:rs7333711
intronic
91049114
A G
reverse
DBSNP:rs1336212
intronic
91049432
A G
forward
DBSNP:rs9515946
intronic
91049469
C T
reverse
DBSNP:rs1336211
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91050685
C T
forward
DBSNP:rs10219887
intronic
91050894
C T
forward
DBSNP:rs10219891
intronic
91051237
A G
reverse
DBSNP:rs1414707
intronic
91051519
C T
forward
DBSNP:rs9515947
intronic
91051942
A G
forward
DBSNP:rs7995362
intronic
91052413
G T
forward
DBSNP:rs4773639
intronic
91053149
G T
forward
DBSNP:rs7336990
intronic
91053152
A G
forward
DBSNP:rs7339074
intronic
91053653
C T
forward
DBSNP:rs7989849
intronic
91053854
A G
forward
DBSNP:rs9523373
intronic
91053876
A G
forward
DBSNP:rs16946279
intronic
91054021
C G
reverse
DBSNP:rs1970945
intronic
91054059
C T
forward
DBSNP:rs7985305
intronic
91054072
C T
forward
DBSNP:rs7985309
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91054657
A G
forward
DBSNP:rs9523374
intronic
91054766
C G
forward
DBSNP:rs9515949
intronic
91055034
A G
reverse
DBSNP:rs1174874
intronic
91055056
C T
forward
DBSNP:rs9515950
intronic
91055133
A G
forward
DBSNP:rs9523375
intronic
91055201
C T
forward
DBSNP:rs9515951
intronic
91055202
C G
forward
DBSNP:rs9515952
intronic
91056078
A G
forward
DBSNP:rs9515953
intronic
91056605
A T
forward
DBSNP:rs9515954
intronic
91056808
C T
forward
DBSNP:rs9589304
intronic
91057125
C T
forward
DBSNP:rs9669946
intronic
91057134
A G
forward
DBSNP:rs9523376
intronic
91057203
C T
forward
DBSNP:rs9670814
intronic
91057929
A G
forward
DBSNP:rs12868601
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91058278
A G
forward
DBSNP:rs16946286
intronic
91058359
A G
forward
DBSNP:rs9515955
intronic
91058374
C T
forward
DBSNP:rs7987505
intronic
91058686
A G
forward
DBSNP:rs9589305
intronic
91059626
A G
reverse
DBSNP:rs1572432
intronic
91059751
G T
forward
DBSNP:rs11840363
intronic
91059831
C T
reverse
DBSNP:rs1326741
intronic
91059884
A G
forward
DBSNP:rs7987991
intronic
91060025
C T
forward
DBSNP:rs9515956
intronic
91060755
C T
forward
DBSNP:rs16946292
intronic
91060992
C T
forward
DBSNP:rs17420943
intronic
91062030
A G
forward
DBSNP:rs9523377
intronic
91062124
A G
forward
DBSNP:rs9589306
intronic
91062136
G T
forward
DBSNP:rs9523378
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91063832
C T
reverse
DBSNP:rs1932625
intronic
91063921
C G
forward
DBSNP:rs7990851
intronic
91064639
A G
forward
DBSNP:rs9652103
intronic
91064761
A G
forward
DBSNP:rs9652156
intronic
91065261
C T
forward
DBSNP:rs7982676
intronic
91065432
C T
forward
DBSNP:rs9523379
intronic
91065543
C G
forward
DBSNP:rs16946294
intronic
91065547
A G
forward
DBSNP:rs9589307
intronic
91065795
A G
forward
DBSNP:rs11619647
intronic
91066296
G T
reverse
DBSNP:rs10492615
intronic
91066721
C T
forward
DBSNP:rs9589308
intronic
91066847
C T
forward
DBSNP:rs725040
intronic
91067708
A C
forward
DBSNP:rs7995427
intronic
91068245
A G
forward
DBSNP:rs7996565
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91068685
C T
forward
DBSNP:rs9589309
intronic
91068745
C T
forward
DBSNP:rs9560832
intronic
91069047
A G
reverse
DBSNP:rs1541137
intronic
91069217
A T
reverse
DBSNP:rs1541136
intronic
91069337
A G
forward
DBSNP:rs9523382
intronic
91069938
C T
forward
DBSNP:rs11839526
intronic
91069962
A T
forward
DBSNP:rs9515959
intronic
91071197
C T
forward
DBSNP:rs9589310
intronic
91071543
A G
forward
DBSNP:rs9589311
intronic
91071543
A G
forward
DBSNP:rs11070002
intronic
91072616
A C
forward
DBSNP:rs9523383
intronic
91072637
C T
reverse
DBSNP:rs2225061
intronic
91072758
A G
reverse
DBSNP:rs2209655
intronic
91072827
A G
forward
DBSNP:rs9589312
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91073208
A T
forward
DBSNP:rs7331112
intronic
91073818
C T
forward
DBSNP:rs7489584
intronic
91074059
A G
forward
DBSNP:rs9515960
intronic
91074544
A G
forward
DBSNP:rs11842940
intronic
91075399
A T
forward
DBSNP:rs9523385
intronic
91075501
A C
forward
DBSNP:rs9589313
intronic
91075742
C T
forward
DBSNP:rs9589314
intronic
91076092
A C
forward
DBSNP:rs9556105
intronic
91076137
A G
forward
DBSNP:rs9301742
intronic
91076703
G T
forward
DBSNP:rs9589315
intronic
91076841
A G
forward
DBSNP:rs11839390
intronic
91076973
A G
forward
DBSNP:rs9589316
intronic
91078206
A G
forward
DBSNP:rs9583949
intronic
91078617
G T
forward
DBSNP:rs12184838
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91078759
A G
forward
DBSNP:rs1555917
intronic
91078972
A G
forward
DBSNP:rs9301743
intronic
91078976
A C
reverse
DBSNP:rs1926663
intronic
91079763
A C
reverse
DBSNP:rs1926662
intronic
91080282
C G
forward
DBSNP:rs1326743
intronic
91080491
G T
forward
DBSNP:rs7992653
intronic
91080987
C T
forward
DBSNP:rs9560834
intronic
91081026
C T
forward
DBSNP:rs9523387
intronic
91081121
A G
forward
DBSNP:rs1326744
intronic
91081253
C T
forward
DBSNP:rs9560835
intronic
91081333
C T
reverse
DBSNP:rs10492614
intronic
91081534
C T
forward
DBSNP:rs1409605
intronic
91081661
C T
forward
DBSNP:rs9805414
intronic
91081821
A G
forward
DBSNP:rs6492556
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91082336
A G
forward
DBSNP:rs16946316
intronic
91082466
G T
reverse
DBSNP:rs1926660
intronic
91082558
A G
forward
DBSNP:rs9515962
intronic
91082940
C G
reverse
DBSNP:rs1887166
intronic
91083861
A C
forward
DBSNP:rs7321583
intronic
91084175
G T
forward
DBSNP:rs9301744
intronic
91084203
G T
forward
DBSNP:rs16946322
intronic
91084257
C T
forward
DBSNP:rs16946323
intronic
91084323
C T
forward
DBSNP:rs2038953
intronic
91084992
C T
forward
DBSNP:rs9589317
intronic
91085012
A C
forward
DBSNP:rs9589318
intronic
91085100
C T
forward
DBSNP:rs9301745
intronic
91085316
C T
forward
DBSNP:rs9301747
intronic
91085865
C G
forward
DBSNP:rs7334052
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91086216
C T
forward
DBSNP:rs7317200
intronic
91086320
A G
forward
DBSNP:rs1326746
intronic
91086645
C T
forward
DBSNP:rs1359693
intronic
91086645
C T
forward
DBSNP:rs9515963
intronic
91086697
G T
forward
DBSNP:rs9589319
intronic
91087030
A G
reverse
DBSNP:rs1998893
intronic
91087171
C T
forward
DBSNP:rs4773641
intronic
91087769
A T
reverse
DBSNP:rs1831023
intronic
91088011
A G
forward
DBSNP:rs16946325
intronic
91088180
A G
forward
DBSNP:rs9523389
intronic
91088496
A G
forward
DBSNP:rs16946326
intronic
91088678
C T
forward
DBSNP:rs7318645
intronic
91088741
C G
forward
DBSNP:rs1326747
intronic
91089064
A G
forward
DBSNP:rs7318056
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91090294
A G
forward
DBSNP:rs16946328
intronic
91090554
G T
forward
DBSNP:rs6492557
intronic
91090640
C G
forward
DBSNP:rs7331612
intronic
91090723
C T
forward
DBSNP:rs8000479
intronic
91090751
C G
forward
DBSNP:rs9589320
intronic
91090944
C T
forward
DBSNP:rs9523391
intronic
91090952
G T
forward
DBSNP:rs6492558
intronic
91091399
A G
forward
DBSNP:rs4773642
intronic
91092835
G T
reverse
DBSNP:rs2182544
intronic
91093321
A C
reverse
DBSNP:rs2182543
intronic
91093338
C T
reverse
DBSNP:rs2182542
intronic
91093400
A G
forward
DBSNP:rs9556106
intronic
91093560
C T
forward
DBSNP:rs9556107
intronic
91093748
G T
forward
DBSNP:rs9523392
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91094731
C G
forward
DBSNP:rs11842344
intronic
91095113
G T
forward
DBSNP:rs16946339
intronic
91095157
C T
forward
DBSNP:rs16946341
intronic
91095174
A C
forward
DBSNP:rs7998900
intronic
91095175
C T
reverse
DBSNP:rs10492613
intronic
91095365
C T
forward
DBSNP:rs1373863
intronic
91095588
A G
forward
DBSNP:rs16946352
intronic
91095693
C T
reverse
DBSNP:rs10492612
intronic
91095836
A G
forward
DBSNP:rs13378593
intronic
91096178
C T
forward
DBSNP:rs16946357
intronic
91096499
C T
forward
DBSNP:rs16946360
intronic
91096679
A T
forward
DBSNP:rs4773643
intronic
91096741
C T
forward
DBSNP:rs17388158
intronic
91096839
C T
forward
DBSNP:rs16946362
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91097610
C T
forward
DBSNP:rs16946366
intronic
91097930
A G
forward
DBSNP:rs10219980
intronic
91098191
C T
forward
DBSNP:rs16946369
intronic
91098220
C G
forward
DBSNP:rs16946371
intronic
91098395
C T
forward
DBSNP:rs16946374
intronic
91098761
C T
forward
DBSNP:rs16946377
intronic
91098772
C T
forward
DBSNP:rs16946381
intronic
91099214
A T
reverse
DBSNP:rs2148530
intronic
91099436
C G
forward
DBSNP:rs1348663
intronic
91099490
A G
forward
DBSNP:rs9589321
intronic
91099559
C T
forward
DBSNP:rs16946386
intronic
91099718
G T
forward
DBSNP:rs16946389
intronic
91099862
C T
forward
DBSNP:rs16946392
intronic
91099903
C T
forward
DBSNP:rs16946394
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91100655
C T
forward
DBSNP:rs9583950
intronic
91100744
C T
forward
DBSNP:rs9583951
intronic
91100915
A G
forward
DBSNP:rs16946397
intronic
91100944
A G
forward
DBSNP:rs16946400
intronic
91101517
C T
forward
DBSNP:rs16946404
intronic
91101537
A G
forward
DBSNP:rs16946405
intronic
91101609
C T
forward
DBSNP:rs16946406
intronic
91102975
C T
reverse
DBSNP:rs3852115
intronic
91103183
C G
forward
DBSNP:rs9589322
intronic
91103279
A C
forward
DBSNP:rs9589323
intronic
91103311
C T
forward
DBSNP:rs9589324
intronic
91103432
C T
forward
DBSNP:rs9589325
intronic
91103441
A G
forward
DBSNP:rs11842511
intronic
91104034
C T
forward
DBSNP:rs16946407
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91104349
A G
forward
DBSNP:rs16946412
intronic
91104557
A G
forward
DBSNP:rs16946414
intronic
91104602
A T
forward
DBSNP:rs6492559
intronic
91104864
C T
forward
DBSNP:rs16946415
intronic
91105385
C T
forward
DBSNP:rs1409600
intronic
91105528
C T
forward
DBSNP:rs9589326
intronic
91105840
C T
forward
DBSNP:rs16946424
intronic
91105939
A G
forward
DBSNP:rs4489870
intronic
91106267
A G
forward
DBSNP:rs1373864
intronic
91106539
A G
forward
DBSNP:rs11843736
intronic
91107262
C T
forward
DBSNP:rs16946426
intronic
91107527
A G
forward
DBSNP:rs16946431
intronic
91107721
C T
reverse
DBSNP:rs2209654
intronic
91107831
C T
reverse
DBSNP:rs2209653
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91107970
C T
forward
DBSNP:rs12430525
intronic
91108198
A G
forward
DBSNP:rs16946433
intronic
91108353
A G
forward
DBSNP:rs7324760
intronic
91108498
A G
forward
DBSNP:rs7322883
intronic
91108591
A G
forward
DBSNP:rs7325128
intronic
91108668
A T
reverse
DBSNP:rs1926659
intronic
91109148
A G
reverse
DBSNP:rs1926658
intronic
91109203
A G
forward
DBSNP:rs9652104
intronic
91110013
C T
forward
DBSNP:rs9523393
intronic
91110497
C T
forward
DBSNP:rs1584154
intronic
91110587
C G
forward
DBSNP:rs12583801
intronic
91110730
A G
reverse
DBSNP:rs1822915
intronic
91110748
A T
reverse
DBSNP:rs1822916
intronic
91110926
C T
forward
DBSNP:rs16946441
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91111450
A G
forward
DBSNP:rs1409601
intronic
91111614
C T
forward
DBSNP:rs16946448
intronic
91111641
A C
forward
DBSNP:rs7321165
intronic
91111701
C G
forward
DBSNP:rs9560836
intronic
91111701
C G
forward
DBSNP:rs12561371
intronic
91113466
A G
forward
DBSNP:rs9523394
intronic
91114044
C T
forward
DBSNP:rs1409602
intronic
91114105
A G
forward
DBSNP:rs11619422
intronic
91114158
C G
forward
DBSNP:rs1409603
intronic
91114768
C T
forward
DBSNP:rs11843168
intronic
91114821
G T
forward
DBSNP:rs9301748
intronic
91114864
A T
reverse
DBSNP:rs10492611
intronic
91115019
C T
forward
DBSNP:rs11843202
intronic
91115094
C G
forward
DBSNP:rs7318562
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91116021
A G
forward
DBSNP:rs11843298
intronic
91116137
C T
forward
DBSNP:rs11841822
intronic
91116363
C T
forward
DBSNP:rs9589327
intronic
91116489
A G
forward
DBSNP:rs9583952
intronic
91116996
C T
reverse
DBSNP:rs3864179
intronic
91117183
G T
reverse
DBSNP:rs3906488
intronic
91117231
C T
reverse
DBSNP:rs1365875
intronic
91117455
A G
reverse
DBSNP:rs1365874
intronic
91117494
A G
reverse
DBSNP:rs3864178
intronic
91117570
A C
reverse
DBSNP:rs3852116
intronic
91118157
A T
forward
DBSNP:rs2882822
intronic
91118266
A C
reverse
DBSNP:rs1412312
intronic
91118460
A G
forward
DBSNP:rs1831568
intronic
91118511
C T
forward
DBSNP:rs1831567
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91118940
A C
forward
DBSNP:rs12875267
intronic
91118968
A C
forward
DBSNP:rs12875280
intronic
91119189
A G
forward
DBSNP:rs1326742
intronic
91119533
A G
forward
DBSNP:rs6492560
intronic
91119798
A G
forward
DBSNP:rs7337822
intronic
91120315
C T
reverse
DBSNP:rs914557
intronic
91120459
C G
reverse
DBSNP:rs746612
intronic
91121789
G T
reverse
DBSNP:rs168215
intronic
91121958
C T
forward
DBSNP:rs828944
intronic
91122029
A G
reverse
DBSNP:rs3918856
intronic
91122270
A C
reverse
DBSNP:rs180545
intronic
91122312
A G
reverse
DBSNP:rs342680
intronic
91122417
A G
reverse
DBSNP:rs866671
intronic
91122691
C T
reverse
DBSNP:rs342681
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91123193
C T
forward
DBSNP:rs180546
intronic
91123226
C G
forward
DBSNP:rs10161892
intronic
91123686
C T
forward
DBSNP:rs16946493
intronic
91124196
C T
forward
DBSNP:rs17424057
intronic
91124735
C T
forward
DBSNP:rs342683
intronic
91124758
A G
forward
DBSNP:rs168216
intronic
91124770
A G
forward
DBSNP:rs184660
intronic
91124852
A G
forward
DBSNP:rs1095978
intronic
91125609
G T
forward
DBSNP:rs8000493
intronic
91126201
A G
forward
DBSNP:rs182924
intronic
91126528
A G
forward
DBSNP:rs8001964
intronic
91126702
C T
reverse
DBSNP:rs342684
intronic
91126863
C T
forward
DBSNP:rs342685
intronic
91127007
G T
forward
DBSNP:rs12865818
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91127107
C G
forward
DBSNP:rs12857157
intronic
91127110
A G
forward
DBSNP:rs12854322
intronic
91127128
A T
reverse
DBSNP:rs191479
intronic
91128106
C G
forward
DBSNP:rs9556108
intronic
91128698
A G
reverse
DBSNP:rs163728
intronic
91128704
G T
reverse
DBSNP:rs342686
intronic
91129384
C T
forward
DBSNP:rs12018595
intronic
91129723
A C
forward
DBSNP:rs9589329
intronic
91130271
C T
forward
DBSNP:rs9583954
intronic
91130713
C T
reverse
DBSNP:rs426697
intronic
91130893
A G
forward
DBSNP:rs9583955
intronic
91131105
C T
reverse
DBSNP:rs393695
intronic
91131299
A G
forward
DBSNP:rs9589330
intronic
91131312
A G
forward
DBSNP:rs9589331
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91131540
A C
forward
DBSNP:rs189336
intronic
91131682
A C
forward
DBSNP:rs1926664
intronic
91131684
C T
forward
DBSNP:rs1929921
intronic
91132368
C G
reverse
DBSNP:rs168214
intronic
91132591
G T
forward
DBSNP:rs342669
intronic
91132772
A G
forward
DBSNP:rs9589332
intronic
91133294
C T
reverse
DBSNP:rs342670
intronic
91133300
A T
forward
DBSNP:rs9589333
intronic
91134056
C T
forward
DBSNP:rs163926
intronic
91134530
C T
forward
DBSNP:rs345435
intronic
91134907
C T
reverse
DBSNP:rs163927
intronic
91134948
C T
reverse
DBSNP:rs342671
intronic
91136642
A G
forward
DBSNP:rs9560837
intronic
91136674
G T
forward
DBSNP:rs9560838
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91137420
C T
reverse
DBSNP:rs342676
intronic
91137715
A G
forward
DBSNP:rs9589334
intronic
91137939
C T
reverse
DBSNP:rs342675
intronic
91138424
C G
forward
DBSNP:rs9301749
intronic
91138707
A T
forward
DBSNP:rs9589335
intronic
91138765
C T
reverse
DBSNP:rs523428
intronic
91139260
G T
reverse
DBSNP:rs1175013
intronic
91139399
C T
reverse
DBSNP:rs1175012
intronic
91139439
A T
forward
DBSNP:rs9515964
intronic
91139487
C T
forward
DBSNP:rs11616965
intronic
91139547
C T
reverse
DBSNP:rs342674
intronic
91140058
C T
forward
DBSNP:rs10129062
intronic
91140205
C T
forward
DBSNP:rs10129064
intronic
91140270
A G
reverse
DBSNP:rs507692
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91140814
C T
reverse
DBSNP:rs435417
intronic
91141220
C T
forward
DBSNP:rs457538
intronic
91141340
C T
reverse
DBSNP:rs466165
intronic
91141975
A T
forward
DBSNP:rs428382
intronic
91142357
G T
reverse
DBSNP:rs461810
intronic
91142985
A G
forward
DBSNP:rs7326771
intronic
91143276
C G
reverse
DBSNP:rs560759
intronic
91143388
C T
reverse
DBSNP:rs554857
intronic
91144651
A G
forward
DBSNP:rs9583956
intronic
91144930
A T
reverse
DBSNP:rs342679
intronic
91145267
A C
forward
DBSNP:rs342678
intronic
91145334
A G
reverse
DBSNP:rs163930
intronic
91145359
C G
reverse
DBSNP:rs163929
intronic
91145688
A G
forward
DBSNP:rs9805282
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91146031
C T
forward
DBSNP:rs9805318
intronic
91146755
A C
forward
DBSNP:rs9589338
intronic
91146928
C T
forward
DBSNP:rs7336930
intronic
91147063
A T
forward
DBSNP:rs7332067
intronic
91147146
C G
forward
DBSNP:rs7331521
intronic
91147523
A G
forward
DBSNP:rs7337562
intronic
91148020
C T
reverse
DBSNP:rs2135214
intronic
91148827
C G
forward
DBSNP:rs191478
intronic
91149048
A G
forward
DBSNP:rs342677
intronic
91150337
C T
forward
DBSNP:rs7990639
intronic
91150452
A G
reverse
DBSNP:rs538673
intronic
91150833
C T
reverse
DBSNP:rs342695
intronic
91150885
A C
forward
DBSNP:rs9972043
intronic
91151020
C T
forward
DBSNP:rs17333548
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91152725
A C
forward
DBSNP:rs9589339
intronic
91152822
C T
reverse
DBSNP:rs1118526
intronic
91153024
A G
reverse
DBSNP:rs1118525
intronic
91153040
A G
reverse
DBSNP:rs1151465
intronic
91153269
C T
forward
DBSNP:rs7982974
intronic
91154225
A G
reverse
DBSNP:rs342694
intronic
91155233
C T
reverse
DBSNP:rs342693
intronic
91155585
A C
reverse
DBSNP:rs182925
intronic
91155949
C T
forward
DBSNP:rs9589340
intronic
91156167
A G
reverse
DBSNP:rs342692
intronic
91156922
G T
reverse
DBSNP:rs342691
intronic
91157633
A T
reverse
DBSNP:rs536961
intronic
91157775
C T
forward
DBSNP:rs7985614
intronic
91157863
C T
reverse
DBSNP:rs345454
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91158239
C T
forward
DBSNP:rs7986568
intronic
91158507
A T
forward
DBSNP:rs9589341
intronic
91158696
A T
forward
DBSNP:rs9556109
intronic
91158921
A G
forward
DBSNP:rs7338975
intronic
91159363
A G
forward
DBSNP:rs9556110
intronic
91159519
C T
reverse
DBSNP:rs1332086
intronic
91159705
A G
forward
DBSNP:rs4773644
intronic
91159718
C T
reverse
DBSNP:rs342690
intronic
91159834
G T
reverse
DBSNP:rs163933
intronic
91159861
A T
reverse
DBSNP:rs163932
intronic
91159942
G T
forward
DBSNP:rs9556111
intronic
91160223
C T
reverse
DBSNP:rs342689
intronic
91160228
A T
forward
DBSNP:rs7988707
intronic
91160232
A C
forward
DBSNP:rs7988059
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91160411
C G
forward
DBSNP:rs7991243
intronic
91160916
A G
forward
DBSNP:rs9589342
intronic
91161048
A G
forward
DBSNP:rs9589343
intronic
91161152
C T
reverse
DBSNP:rs342688
intronic
91161188
C G
reverse
DBSNP:rs163931
intronic
91161471
C G
reverse
DBSNP:rs342687
intronic
91161666
A G
forward
DBSNP:rs9560839
intronic
91161742
A G
forward
DBSNP:rs9523397
intronic
91162593
A G
forward
DBSNP:rs12560709
intronic
91162918
A G
reverse
DBSNP:rs459963
intronic
91163163
A G
reverse
DBSNP:rs566617
intronic
91163196
A G
forward
DBSNP:rs12865710
intronic
91163366
G T
reverse
DBSNP:rs464989
intronic
91163397
C G
reverse
DBSNP:rs463579
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91164252
A G
forward
DBSNP:rs9589344
intronic
91164258
A G
reverse
DBSNP:rs460929
intronic
91164669
A G
forward
DBSNP:rs9583957
intronic
91165133
A C
reverse
DBSNP:rs549238
intronic
91165184
C G
reverse
DBSNP:rs516860
intronic
91165222
C T
reverse
DBSNP:rs1151466
intronic
91165937
A G
forward
DBSNP:rs12560983
intronic
91166049
C G
reverse
DBSNP:rs546081
intronic
91166588
C T
forward
DBSNP:rs7986332
intronic
91166774
A C
forward
DBSNP:rs9560842
intronic
91166958
C T
reverse
DBSNP:rs412598
intronic
91167045
C G
reverse
DBSNP:rs440323
intronic
91167047
A G
forward
DBSNP:rs3864181
intronic
91167684
C T
forward
DBSNP:rs10162160
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91169091
C T
reverse
DBSNP:rs462954
intronic
91169193
C T
forward
DBSNP:rs16946629
intronic
91169445
A G
forward
DBSNP:rs7992469
intronic
91169707
C T
forward
DBSNP:rs7999708
intronic
91170130
C T
reverse
DBSNP:rs422416
intronic
91170553
A G
forward
DBSNP:rs9523398
intronic
91170688
C G
forward
DBSNP:rs9523399
intronic
91170691
C T
forward
DBSNP:rs9560843
intronic
91171182
C T
forward
DBSNP:rs3904388
intronic
91172034
A T
forward
DBSNP:rs17333980
intronic
91172148
A G
reverse
DBSNP:rs507975
intronic
91172373
C T
reverse
DBSNP:rs383194
intronic
91172719
C T
forward
DBSNP:rs9560844
intronic
91173296
A C
forward
DBSNP:rs7329162
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91173902
C T
forward
DBSNP:rs461726
intronic
91174971
C G
forward
DBSNP:rs9556112
intronic
91175064
A G
forward
DBSNP:rs12100354
intronic
91176167
A G
forward
DBSNP:rs16946643
intronic
91176558
A C
forward
DBSNP:rs16952625
intronic
91176705
C T
reverse
DBSNP:rs345492
intronic
91177586
A G
reverse
DBSNP:rs345491
intronic
91177841
A G
forward
DBSNP:rs9589345
intronic
91178220
A T
forward
DBSNP:rs9589346
intronic
91179451
A G
forward
DBSNP:rs9523402
intronic
91179507
C T
reverse
DBSNP:rs168218
intronic
91180404
C T
forward
DBSNP:rs9589347
intronic
91180633
A G
forward
DBSNP:rs9589348
intronic
91180901
A C
reverse
DBSNP:rs189337
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91181194
C T
reverse
DBSNP:rs342715
intronic
91181747
C T
forward
DBSNP:rs16946647
intronic
91182216
G T
reverse
DBSNP:rs1175036
intronic
91182346
A T
forward
DBSNP:rs9556113
intronic
91182696
A G
forward
DBSNP:rs9583958
intronic
91184692
A G
reverse
DBSNP:rs342714
intronic
91185286
C G
forward
DBSNP:rs9560845
intronic
91185438
A G
forward
DBSNP:rs4773646
intronic
91185662
A G
forward
DBSNP:rs2174503
intronic
91185829
C T
reverse
DBSNP:rs342713
intronic
91185946
A G
reverse
DBSNP:rs171060
intronic
91185970
G T
forward
DBSNP:rs17334211
intronic
91186048
A G
forward
DBSNP:rs9589349
intronic
91186244
G T
reverse
DBSNP:rs163729
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91186921
A G
reverse
DBSNP:rs342711
intronic
91187114
C T
forward
DBSNP:rs9583959
intronic
91187226
A T
reverse
DBSNP:rs1969917
intronic
91187252
C T
reverse
DBSNP:rs345485
intronic
91188298
C T
forward
DBSNP:rs7328172
intronic
91188447
A G
reverse
DBSNP:rs342721
intronic
91188714
C T
reverse
DBSNP:rs342720
intronic
91189071
A G
reverse
DBSNP:rs163935
intronic
91189077
A T
reverse
DBSNP:rs163934
intronic
91189249
G T
forward
DBSNP:rs16946665
intronic
91189743
C T
forward
DBSNP:rs9583960
intronic
91190003
G T
reverse
DBSNP:rs345482
intronic
91190370
A C
reverse
DBSNP:rs342719
intronic
91190373
C T
forward
DBSNP:rs9583961
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91192684
C G
forward
DBSNP:rs3783053
intronic
91193171
A G
forward
DBSNP:rs17334400
intronic
91193295
C G
reverse
DBSNP:rs342717
intronic
91194227
A T
forward
DBSNP:rs1332095
intronic
91194565
C T
forward
DBSNP:rs8001177
intronic
91195120
C T
reverse
DBSNP:rs342716
intronic
91195235
A G
forward
DBSNP:rs9560846
intronic
91195448
A G
reverse
DBSNP:rs345477
intronic
91196126
C T
reverse
DBSNP:rs525661
intronic
91196140
C G
forward
DBSNP:rs16946681
intronic
91197565
C T
forward
DBSNP:rs17425635
intronic
91198489
A G
reverse
DBSNP:rs342710
intronic
91199717
A G
reverse
DBSNP:rs548677
intronic
91199974
C G
reverse
DBSNP:rs516061
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91200703
A G
reverse
DBSNP:rs459110
intronic
91200714
C T
forward
DBSNP:rs402362
intronic
91200882
C T
forward
DBSNP:rs579940
intronic
91201063
A C
forward
DBSNP:rs547159
intronic
91201118
A G
reverse
DBSNP:rs547293
intronic
91201217
C T
reverse
DBSNP:rs1854019
intronic
91201694
C T
forward
DBSNP:rs9589350
intronic
91201824
A C
forward
DBSNP:rs9523404
intronic
91202324
G T
forward
DBSNP:rs9523405
intronic
91202386
C G
forward
DBSNP:rs9560847
intronic
91203227
A G
forward
DBSNP:rs9560848
intronic
91203227
A G
forward
DBSNP:rs12561170
intronic
91203288
A T
forward
DBSNP:rs4771843
intronic
91203492
C T
reverse
DBSNP:rs184659
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91204955
G T
forward
DBSNP:rs12867301
intronic
91204997
A C
forward
DBSNP:rs16946689
intronic
91205019
G T
forward
DBSNP:rs12867337
intronic
91205029
A G
forward
DBSNP:rs12862349
intronic
91205074
A G
forward
DBSNP:rs12862407
intronic
91205087
G T
forward
DBSNP:rs12867522
intronic
91205153
C T
forward
DBSNP:rs1034488
intronic
91205504
A G
reverse
DBSNP:rs1555916
intronic
91205868
C T
forward
DBSNP:rs9589351
intronic
91206088
A T
forward
DBSNP:rs9560849
intronic
91206130
A G
forward
DBSNP:rs1550780
intronic
91206506
G T
forward
DBSNP:rs3783054
intronic
91207916
A T
forward
DBSNP:rs9560850
intronic
91208191
A G
forward
DBSNP:rs9560851
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91208582
A G
forward
DBSNP:rs12428805
intronic
91208623
A G
forward
DBSNP:rs9589352
intronic
91208623
A G
forward
DBSNP:rs12017465
intronic
91208879
A G
forward
DBSNP:rs345471
intronic
91209470
C G
forward
DBSNP:rs9515966
intronic
91209846
A G
reverse
DBSNP:rs2148531
intronic
91210755
G T
forward
DBSNP:rs342709
intronic
91210927
C T
reverse
DBSNP:rs168217
intronic
91211396
C T
forward
DBSNP:rs17668312
intronic
91212716
A G
forward
DBSNP:rs342708
intronic
91213130
A G
forward
DBSNP:rs9583963
intronic
91213268
G T
forward
DBSNP:rs9523406
intronic
91213692
A G
forward
DBSNP:rs483826
intronic
91214554
A G
forward
DBSNP:rs1412313
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91215059
C T
forward
DBSNP:rs342706
intronic
91215194
C T
forward
DBSNP:rs9589353
intronic
91215682
C G
forward
DBSNP:rs9583964
intronic
91215971
A G
forward
DBSNP:rs12050058
intronic
91217236
C T
forward
DBSNP:rs9583965
intronic
91217733
C T
forward
DBSNP:rs9560852
intronic
91217770
A G
forward
DBSNP:rs342705
intronic
91218373
A C
forward
DBSNP:rs9523407
intronic
91218511
C T
forward
DBSNP:rs9515967
intronic
91218552
A G
forward
DBSNP:rs9515968
intronic
91218989
C T
reverse
DBSNP:rs342704
intronic
91219001
A C
forward
DBSNP:rs12873720
intronic
91219025
A C
forward
DBSNP:rs12873824
intronic
91219049
A G
forward
DBSNP:rs9515969
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91219722
C G
reverse
DBSNP:rs342703
intronic
91220628
C T
forward
DBSNP:rs9523408
intronic
91220947
A C
reverse
DBSNP:rs342702
intronic
91220959
G T
forward
DBSNP:rs12869741
intronic
91221307
A T
forward
DBSNP:rs12870241
intronic
91221336
A G
forward
DBSNP:rs481064
intronic
91221428
A G
forward
DBSNP:rs4771844
intronic
91221620
A G
forward
DBSNP:rs4771845
intronic
91221631
A G
forward
DBSNP:rs4773648
intronic
91221799
C T
forward
DBSNP:rs11843726
intronic
91222210
A G
forward
DBSNP:rs9515971
intronic
91222641
A G
forward
DBSNP:rs7331895
intronic
91222756
A C
reverse
DBSNP:rs2183865
intronic
91222850
C T
forward
DBSNP:rs570996
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91223339
A C
forward
DBSNP:rs9589354
intronic
91223834
A G
forward
DBSNP:rs9523409
intronic
91223858
A G
reverse
DBSNP:rs342701
intronic
91223968
C T
forward
DBSNP:rs9523410
intronic
91224265
G T
forward
DBSNP:rs9523411
intronic
91224420
C T
reverse
DBSNP:rs342700
intronic
91224493
C T
reverse
DBSNP:rs1445397
intronic
91224619
A C
reverse
DBSNP:rs436438
intronic
91224881
A G
reverse
DBSNP:rs1445396
intronic
91225444
C T
reverse
DBSNP:rs342699
intronic
91225634
A G
forward
DBSNP:rs182926
intronic
91225944
C T
forward
DBSNP:rs522812
intronic
91225982
C T
forward
DBSNP:rs465219
intronic
91225986
A G
forward
DBSNP:rs457306
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91226393
A T
reverse
DBSNP:rs342698
intronic
91226977
A G
forward
DBSNP:rs342697
intronic
91227142
G T
forward
DBSNP:rs9560854
intronic
91227362
C T
forward
DBSNP:rs9523412
intronic
91227431
C T
forward
DBSNP:rs342696
intronic
91227515
C T
forward
DBSNP:rs9301750
intronic
91227872
A G
forward
DBSNP:rs505246
intronic
91227912
G T
forward
DBSNP:rs472095
intronic
91227960
A G
forward
DBSNP:rs9301751
intronic
91228220
A C
forward
DBSNP:rs9523413
intronic
91228498
A G
forward
DBSNP:rs463056
intronic
91228642
C T
forward
DBSNP:rs9301752
intronic
91228896
A G
forward
DBSNP:rs9560855
intronic
91229698
C T
forward
DBSNP:rs11619838
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91229798
C T
forward
DBSNP:rs9515972
intronic
91231413
C T
forward
DBSNP:rs342673
intronic
91231958
A G
reverse
DBSNP:rs1854980
intronic
91232486
G T
reverse
DBSNP:rs1854981
intronic
91232486
A C
forward
DBSNP:rs9523415
intronic
91232660
C T
reverse
DBSNP:rs342672
intronic
91232674
A G
reverse
DBSNP:rs163928
intronic
91232737
A G
reverse
DBSNP:rs173141
intronic
91233819
A G
forward
DBSNP:rs3012004
intronic
91233975
G T
forward
DBSNP:rs1664288
intronic
91234058
C T
forward
DBSNP:rs548544
intronic
91234350
A C
forward
DBSNP:rs551302
intronic
91234489
A G
forward
DBSNP:rs3864180
intronic
91234705
C T
forward
DBSNP:rs7330871
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91234801
A G
forward
DBSNP:rs12873901
intronic
91234840
A G
forward
DBSNP:rs12874021
intronic
91234877
C G
forward
DBSNP:rs574583
intronic
91235431
A C
reverse
DBSNP:rs193208
intronic
91236085
C T
forward
DBSNP:rs9589355
intronic
91236145
A G
forward
DBSNP:rs539065
intronic
91236230
A G
reverse
DBSNP:rs168279
intronic
91236344
A G
reverse
DBSNP:rs459137
intronic
91236412
A G
reverse
DBSNP:rs345450
intronic
91236467
A G
forward
DBSNP:rs9556115
intronic
91236492
A G
reverse
DBSNP:rs168278
intronic
91236530
A G
forward
DBSNP:rs9560856
intronic
91236625
A G
forward
DBSNP:rs556483
intronic
91236721
C T
forward
DBSNP:rs556722
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91236954
C T
forward
DBSNP:rs9556116
intronic
91237073
G T
forward
DBSNP:rs560244
intronic
91237086
C T
reverse
DBSNP:rs186955
intronic
91237229
A T
forward
DBSNP:rs570196
intronic
91237251
A T
reverse
DBSNP:rs345449
intronic
91237512
C T
forward
DBSNP:rs9560857
intronic
91237544
A G
forward
DBSNP:rs2352027
intronic
91237909
A G
reverse
DBSNP:rs439700
intronic
91238513
A G
reverse
DBSNP:rs345448
intronic
91239330
C T
reverse
DBSNP:rs345447
intronic
91239445
C G
reverse
DBSNP:rs345446
intronic
91240025
C T
reverse
DBSNP:rs168277
intronic
91240205
C G
reverse
DBSNP:rs345445
intronic
91240376
A C
forward
DBSNP:rs543718
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91240627
C G
reverse
DBSNP:rs345444
intronic
91240935
A T
reverse
DBSNP:rs386885
intronic
91241001
A C
reverse
DBSNP:rs1854975
intronic
91241489
A T
reverse
DBSNP:rs345443
intronic
91241743
C T
reverse
DBSNP:rs345442
intronic
91242169
A T
forward
DBSNP:rs383357
intronic
91242304
A G
forward
DBSNP:rs9805584
intronic
91242313
A T
forward
DBSNP:rs464160
intronic
91242372
A T
forward
DBSNP:rs464167
intronic
91242710
G T
reverse
DBSNP:rs535973
intronic
91242779
C T
forward
DBSNP:rs528366
intronic
91243230
C T
forward
DBSNP:rs2352028
intronic
91243256
A C
forward
DBSNP:rs2352029
intronic
91243273
A G
reverse
DBSNP:rs2990007
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
91243997
A C
reverse
DBSNP:rs2990006
intronic
91244222
A T
reverse
DBSNP:rs2990005
intronic
91244506
A T
reverse