Hedgehog Signaling Pathway Database
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Human Mutations -
gpc6
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
V > M
412
N
DBSNP:rs1535692
T > T
416
S
DBSNP:rs2274020
intronic
92678236
C T
forward
DBSNP:rs11839555
intronic
92679657
A G
forward
DBSNP:rs369570
intronic
92679701
A G
forward
DBSNP:rs17645998
intronic
92680018
A G
forward
DBSNP:rs7993454
intronic
92681486
A G
forward
DBSNP:rs9561283
intronic
92681585
A G
forward
DBSNP:rs9523966
intronic
92681598
C T
forward
DBSNP:rs12560455
intronic
92681599
C T
forward
DBSNP:rs9561285
intronic
92681635
A G
forward
DBSNP:rs11616449
intronic
92681649
A G
forward
DBSNP:rs9556273
intronic
92681651
A G
forward
DBSNP:rs9561286
intronic
92681679
A G
forward
DBSNP:rs9561287
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
92682457
A T
forward
DBSNP:rs1889271
intronic
92682688
A G
forward
DBSNP:rs4357810
intronic
92682694
C T
forward
DBSNP:rs7491180
intronic
92683230
C G
forward
DBSNP:rs9561288
intronic
92683831
C G
reverse
DBSNP:rs1328365
intronic
92683923
A T
reverse
DBSNP:rs1328364
intronic
92684059
A G
forward
DBSNP:rs7994602
intronic
92684190
A T
forward
DBSNP:rs4594115
intronic
92684220
C T
forward
DBSNP:rs4369512
intronic
92685815
C T
reverse
DBSNP:rs1328363
intronic
92685976
A G
reverse
DBSNP:rs1328362
intronic
92686167
A G
reverse
DBSNP:rs1887709
intronic
92686244
A G
reverse
DBSNP:rs1887708
intronic
92686360
A G
reverse
DBSNP:rs1887707
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
92686408
A G
forward
DBSNP:rs7326297
intronic
92686408
A G
forward
DBSNP:rs9589691
intronic
92686879
C T
forward
DBSNP:rs7334414
intronic
92687052
C T
forward
DBSNP:rs13378253
intronic
92687087
A G
forward
DBSNP:rs11840691
intronic
92687387
A G
forward
DBSNP:rs9523967
intronic
92687430
C T
forward
DBSNP:rs9523968
intronic
92687599
A G
forward
DBSNP:rs9523969
intronic
92687610
A T
forward
DBSNP:rs9523970
intronic
92687633
C T
forward
DBSNP:rs9523971
intronic
92687634
A G
forward
DBSNP:rs7491482
intronic
92687666
C G
forward
DBSNP:rs11839597
intronic
92687832
C T
forward
DBSNP:rs9523972
intronic
92688259
C T
forward
DBSNP:rs11839667
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
92688597
C T
forward
DBSNP:rs7400410
intronic
92688671
A G
forward
DBSNP:rs6492654
intronic
92688993
C T
forward
DBSNP:rs6492655
intronic
92689119
G T
forward
DBSNP:rs7999514
intronic
92689200
G T
forward
DBSNP:rs7992869
intronic
92689220
C T
forward
DBSNP:rs7999706
intronic
92689262
C T
forward
DBSNP:rs7994461
intronic
92689452
C T
forward
DBSNP:rs7999192
intronic
92689516
C T
forward
DBSNP:rs10851333
intronic
92689726
C T
forward
DBSNP:rs4773723
intronic
92689790
G T
forward
DBSNP:rs9523978
intronic
92689890
G T
forward
DBSNP:rs4773724
intronic
92690547
A C
forward
DBSNP:rs11838690
intronic
92690548
C T
forward
DBSNP:rs9561289
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
92692246
C T
forward
DBSNP:rs1577099
intronic
92692849
G T
reverse
DBSNP:rs2104648
intronic
92693270
C G
reverse
DBSNP:rs2182959
intronic
92693343
C T
forward
DBSNP:rs1008993
intronic
92693621
A C
reverse
DBSNP:rs913471
intronic
92694318
A G
forward
DBSNP:rs9556274
intronic
92694936
A G
forward
DBSNP:rs12430764
intronic
92695040
A G
forward
DBSNP:rs9516198
intronic
92695677
A G
forward
DBSNP:rs11843447
intronic
92697875
A G
forward
DBSNP:rs9561291
intronic
92698356
C T
forward
DBSNP:rs1359963
intronic
92698849
A G
forward
DBSNP:rs17267523
intronic
92699825
A G
forward
DBSNP:rs7321850
intronic
92700083
C T
forward
DBSNP:rs996265
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
92700585
C T
forward
DBSNP:rs9523981
intronic
92701331
C T
forward
DBSNP:rs8002099
intronic
92702340
C G
forward
DBSNP:rs7140098
intronic
92702705
A T
forward
DBSNP:rs7318204
intronic
92704159
A G
forward
DBSNP:rs9584095
intronic
92704248
A G
forward
DBSNP:rs7989431
intronic
92705398
A G
forward
DBSNP:rs8000286
intronic
92705760
A G
forward
DBSNP:rs12583745
intronic
92705773
G T
forward
DBSNP:rs9561292
intronic
92707043
A G
forward
DBSNP:rs9584096
intronic
92707225
A G
forward
DBSNP:rs7985953
intronic
92707299
C G
forward
DBSNP:rs9589694
intronic
92707388
C T
forward
DBSNP:rs6492656
intronic
92708120
A C
forward
DBSNP:rs9584097
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
92708549
A T
forward
DBSNP:rs12427542
intronic
92709599
C T
forward
DBSNP:rs10467337
intronic
92710672
A T
reverse
DBSNP:rs1328372
intronic
92710786
A G
reverse
DBSNP:rs1328371
intronic
92710901
A G
reverse
DBSNP:rs1328370
intronic
92710991
A G
reverse
DBSNP:rs1328369
intronic
92711023
C T
reverse
DBSNP:rs1328368
intronic
92711237
A C
forward
DBSNP:rs17300024
intronic
92712064
A G
forward
DBSNP:rs16948547
intronic
92712113
A G
forward
DBSNP:rs17188802
intronic
92712152
G T
forward
DBSNP:rs9516199
intronic
92713075
C T
forward
DBSNP:rs8001306
intronic
92713489
A G
forward
DBSNP:rs9523982
intronic
92713699
A G
forward
DBSNP:rs9561293
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
92713731
C G
forward
DBSNP:rs7320969
intronic
92714354
A G
forward
DBSNP:rs7988954
intronic
92714888
A G
forward
DBSNP:rs9523983
intronic
92715499
C T
reverse
DBSNP:rs1328367
intronic
92715848
C T
forward
DBSNP:rs7997563
intronic
92716119
C T
forward
DBSNP:rs9561294
intronic
92716145
C T
reverse
DBSNP:rs1328366
intronic
92716534
A C
forward
DBSNP:rs17300031
intronic
92717321
A G
forward
DBSNP:rs7981301
intronic
92717519
C T
forward
DBSNP:rs7323403
intronic
92719543
A C
reverse
DBSNP:rs2031844
intronic
92720002
G T
reverse
DBSNP:rs2031843
intronic
92720011
A G
reverse
DBSNP:rs1536698
intronic
92720022
A C
forward
DBSNP:rs4773726
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
92720132
C T
forward
DBSNP:rs9516200
intronic
92720641
A G
forward
DBSNP:rs9516201
intronic
92720837
C T
forward
DBSNP:rs9589696
intronic
92721748
A C
forward
DBSNP:rs7338831
intronic
92722331
C T
forward
DBSNP:rs9561295
intronic
92722509
A G
forward
DBSNP:rs17267544
intronic
92722746
A G
forward
DBSNP:rs9589697
intronic
92722966
C T
forward
DBSNP:rs9589698
intronic
92723470
A T
forward
DBSNP:rs3928068
intronic
92723653
C T
forward
DBSNP:rs9523984
intronic
92724350
C T
forward
DBSNP:rs9561296
intronic
92724841
A G
forward
DBSNP:rs9516203
intronic
92725087
C T
forward
DBSNP:rs9589699
intronic
92725193
A G
forward
DBSNP:rs9516204
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
92725591
G T
forward
DBSNP:rs9584099
intronic
92725846
A G
forward
DBSNP:rs9561297
intronic
92726175
C T
forward
DBSNP:rs9523985
intronic
92726186
C T
forward
DBSNP:rs7319423
intronic
92726337
C G
forward
DBSNP:rs9523986
intronic
92726675
A C
forward
DBSNP:rs7324873
intronic
92726747
A T
forward
DBSNP:rs9523987
intronic
92726749
A T
forward
DBSNP:rs9523988
intronic
92726751
A T
forward
DBSNP:rs9556275
intronic
92726768
A G
forward
DBSNP:rs9523989
intronic
92726929
A G
forward
DBSNP:rs7987788
intronic
92727465
C T
forward
DBSNP:rs9523990
intronic
92727969
A G
forward
DBSNP:rs9523991
intronic
92728190
A C
forward
DBSNP:rs9523992
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
92728503
A T
forward
DBSNP:rs9523994
intronic
92728717
C T
forward
DBSNP:rs2892648
intronic
92728864
C T
forward
DBSNP:rs9523995
intronic
92729623
C T
forward
DBSNP:rs17300052
intronic
92730191
A G
reverse
DBSNP:rs1323973
intronic
92730324
A G
forward
DBSNP:rs9516206
intronic
92732051
C T
forward
DBSNP:rs9589701
intronic
92732632
C T
forward
DBSNP:rs9523996
intronic
92732665
C T
forward
DBSNP:rs9589702
intronic
92733503
C T
forward
DBSNP:rs4142602
intronic
92733676
C T
forward
DBSNP:rs4142598
intronic
92733747
C G
forward
DBSNP:rs9584100
intronic
92733920
A G
forward
DBSNP:rs9561298
intronic
92734239
C T
forward
DBSNP:rs9589703
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
92735900
A G
forward
DBSNP:rs9589704
intronic
92736046
A G
forward
DBSNP:rs9584101
intronic
92736381
G T
forward
DBSNP:rs9523997
intronic
92736707
A G
forward
DBSNP:rs11839514
intronic
92736894
C T
forward
DBSNP:rs17300059
intronic
92736911
A G
reverse
DBSNP:rs1323998
intronic
92737516
G T
forward
DBSNP:rs10507998
intronic
92737987
A G
forward
DBSNP:rs9523998
intronic
92738059
A G
forward
DBSNP:rs9589705
intronic
92738566
C G
forward
DBSNP:rs16948589
intronic
92738740
A G
forward
DBSNP:rs6492657
intronic
92738857
A G
forward
DBSNP:rs7996491
intronic
92739136
A G
forward
DBSNP:rs9584102
intronic
92739272
A G
forward
DBSNP:rs9523999
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
92739980
A G
forward
DBSNP:rs9516208
intronic
92740325
A G
forward
DBSNP:rs16948601
intronic
92740351
A T
forward
DBSNP:rs17267585
intronic
92741581
A T
forward
DBSNP:rs17267592
intronic
92742278
A G
reverse
DBSNP:rs2025949
intronic
92742380
A T
forward
DBSNP:rs16948605
intronic
92742583
C T
forward
DBSNP:rs4773727
intronic
92742785
A G
forward
DBSNP:rs4773728
intronic
92743001
A G
forward
DBSNP:rs9584103
intronic
92743538
A G
forward
DBSNP:rs9524000
intronic
92744159
A G
reverse
DBSNP:rs1408220
intronic
92744583
A T
forward
DBSNP:rs16948610
intronic
92745066
C T
forward
DBSNP:rs9556277
intronic
92745096
A G
forward
DBSNP:rs9524001
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
92745300
A G
forward
DBSNP:rs1128484
intronic
92745389
A C
forward
DBSNP:rs12875400
intronic
92745717
G T
forward
DBSNP:rs12584682
intronic
92745875
C T
forward
DBSNP:rs9301865
intronic
92745977
C T
forward
DBSNP:rs7358949
intronic
92746812
A C
forward
DBSNP:rs9589706
intronic
92746976
G T
forward
DBSNP:rs9561299
intronic
92747127
A G
forward
DBSNP:rs7139955
intronic
92747268
C G
forward
DBSNP:rs9561300
intronic
92747585
A G
forward
DBSNP:rs4773729
intronic
92747927
C T
forward
DBSNP:rs7987881
intronic
92748198
C T
forward
DBSNP:rs9524002
intronic
92748198
C T
forward
DBSNP:rs11070052
intronic
92748735
C T
forward
DBSNP:rs9589707
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
92748954
A G
forward
DBSNP:rs9589708
intronic
92749045
C T
forward
DBSNP:rs4771869
intronic
92749193
A G
forward
DBSNP:rs9524003
intronic
92749423
G T
forward
DBSNP:rs17234334
intronic
92749629
A T
forward
DBSNP:rs16948616
intronic
92749809
A C
forward
DBSNP:rs9584104
intronic
92749809
A C
forward
DBSNP:rs12016937
intronic
92750145
A G
forward
DBSNP:rs4773730
intronic
92750357
A T
forward
DBSNP:rs11840827
intronic
92750758
C T
forward
DBSNP:rs9524004
intronic
92750965
C T
forward
DBSNP:rs9524005
intronic
92751082
A T
forward
DBSNP:rs9561301
intronic
92751099
C T
forward
DBSNP:rs9524006
intronic
92751499
C G
forward
DBSNP:rs8001061
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
92752676
C T
forward
DBSNP:rs9524007
intronic
92752920
A G
forward
DBSNP:rs4773731
intronic
92752968
C T
reverse
DBSNP:rs2025948
intronic
92754224
A G
forward
DBSNP:rs12430104
intronic
92755069
A G
forward
DBSNP:rs7997493
intronic
92755396
A G
forward
DBSNP:rs9524008
intronic
92755817
C T
reverse
DBSNP:rs2057525
intronic
92756433
C T
reverse
DBSNP:rs2057524
intronic
92756668
A T
forward
DBSNP:rs7325380
intronic
92756956
A G
forward
DBSNP:rs4283093
intronic
92758242
C T
reverse
DBSNP:rs2031845
intronic
92758754
A G
forward
DBSNP:rs9516210
intronic
92759479
A T
forward
DBSNP:rs7996507
intronic
92759502
A T
forward
DBSNP:rs6492658
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
92760387
A T
forward
DBSNP:rs17300101
intronic
92760521
A G
forward
DBSNP:rs12853940
intronic
92760712
A G
reverse
DBSNP:rs1998558
intronic
92760777
A G
forward
DBSNP:rs9524009
intronic
92760882
A G
forward
DBSNP:rs9516211
intronic
92761674
A C
forward
DBSNP:rs9516212
intronic
92762121
A G
forward
DBSNP:rs9561302
intronic
92762417
A G
reverse
DBSNP:rs1323997
intronic
92762455
C G
forward
DBSNP:rs9516213
intronic
92762674
C T
forward
DBSNP:rs9301866
intronic
92762881
C T
forward
DBSNP:rs9524010
intronic
92763140
C T
forward
DBSNP:rs9516214
intronic
92763277
G T
forward
DBSNP:rs9524011
intronic
92763381
C T
forward
DBSNP:rs9561304
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
92763580
A G
forward
DBSNP:rs9561305
intronic
92763809
A G
forward
DBSNP:rs17267613
intronic
92763887
C T
forward
DBSNP:rs1328373
intronic
92763902
A T
forward
DBSNP:rs963206
intronic
92764061
C T
forward
DBSNP:rs12430401
intronic
92764105
A G
forward
DBSNP:rs1328374
intronic
92764160
A G
forward
DBSNP:rs9301867
intronic
92764180
A C
forward
DBSNP:rs8000037
intronic
92765006
C T
forward
DBSNP:rs9516215
intronic
92765017
A G
forward
DBSNP:rs7320636
intronic
92765085
C G
forward
DBSNP:rs17267620
intronic
92765131
A G
forward
DBSNP:rs9561306
intronic
92765156
G T
forward
DBSNP:rs9556278
intronic
92765196
C T
forward
DBSNP:rs9516216
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
92765274
A G
forward
DBSNP:rs9516217
intronic
92765289
C T
forward
DBSNP:rs9516218
intronic
92765341
A G
forward
DBSNP:rs9516219
intronic
92765362
C T
forward
DBSNP:rs9589710
intronic
92765700
C T
forward
DBSNP:rs9524013
intronic
92765743
A G
reverse
DBSNP:rs1323996
intronic
92766220
G T
forward
DBSNP:rs17234362
intronic
92766373
C T
forward
DBSNP:rs9516220
intronic
92766565
C G
forward
DBSNP:rs12873150
intronic
92766579
C T
forward
DBSNP:rs9589711
intronic
92766771
A G
reverse
DBSNP:rs1323995
intronic
92766819
A C
forward
DBSNP:rs9561307
intronic
92766926
A G
forward
DBSNP:rs9561308
intronic
92767071
A G
reverse
DBSNP:rs1323994
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
92767249
A T
forward
DBSNP:rs7339375
intronic
92767379
C T
forward
DBSNP:rs7320857
intronic
92767389
C T
forward
DBSNP:rs7338482
intronic
92767474
C T
forward
DBSNP:rs7321055
intronic
92767623
C G
forward
DBSNP:rs7338914
intronic
92767631
A C
forward
DBSNP:rs7339043
intronic
92767709
C G
forward
DBSNP:rs7337675
intronic
92768452
C T
forward
DBSNP:rs9301868
intronic
92768626
A G
forward
DBSNP:rs956036
intronic
92768639
A G
forward
DBSNP:rs9516221
intronic
92769060
A C
forward
DBSNP:rs16948637
intronic
92769320
A G
forward
DBSNP:rs1475448
intronic
92769321
C T
forward
DBSNP:rs1475449
intronic
92769619
A G
forward
DBSNP:rs12860856
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
92769840
A T
forward
DBSNP:rs7982562
intronic
92770754
C G
forward
DBSNP:rs9584106
intronic
92770834
C T
forward
DBSNP:rs12430834
intronic
92771632
A G
forward
DBSNP:rs9584107
intronic
92772187
G T
forward
DBSNP:rs12877869
intronic
92772196
A T
forward
DBSNP:rs12874179
intronic
92772324
A T
forward
DBSNP:rs12853267
intronic
92772373
C T
forward
DBSNP:rs12877316
intronic
92772760
A G
forward
DBSNP:rs7999016
intronic
92773079
C T
forward
DBSNP:rs7984266
intronic
92773100
G T
forward
DBSNP:rs7999616
intronic
92773486
G T
forward
DBSNP:rs2025946
intronic
92773532
C T
forward
DBSNP:rs2025947
intronic
92773888
G T
forward
DBSNP:rs9561309
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
92774079
C T
reverse
DBSNP:rs2038723
intronic
92774240
G T
forward
DBSNP:rs1830788
intronic
92774357
A G
forward
DBSNP:rs12428967
intronic
92774727
A T
forward
DBSNP:rs4773732
intronic
92774773
C T
forward
DBSNP:rs4773733
intronic
92774794
A G
forward
DBSNP:rs9589713
intronic
92774841
C T
forward
DBSNP:rs9556279
intronic
92774841
C T
forward
DBSNP:rs11070054
intronic
92774867
A T
forward
DBSNP:rs9561310
intronic
92774958
A C
forward
DBSNP:rs16948643
intronic
92775697
G T
forward
DBSNP:rs9516222
intronic
92775853
A G
forward
DBSNP:rs9524014
intronic
92776322
A G
forward
DBSNP:rs9561311
intronic
92776366
A C
forward
DBSNP:rs9516223
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
92777772
C T
forward
DBSNP:rs7992679
intronic
92778825
A G
forward
DBSNP:rs12428655
intronic
92779273
G T
forward
DBSNP:rs9556280
intronic
92779756
C T
forward
DBSNP:rs7994277
intronic
92780013
A G
forward
DBSNP:rs11618902
intronic
92780197
C T
reverse
DBSNP:rs1359199
intronic
92780263
A G
forward
DBSNP:rs11618940
intronic
92780389
C G
forward
DBSNP:rs11619144
intronic
92781087
A G
forward
DBSNP:rs7994395
intronic
92782068
A C
forward
DBSNP:rs1323981
intronic
92782534
A G
forward
DBSNP:rs9561312
intronic
92782670
G T
forward
DBSNP:rs7984095
intronic
92782786
C G
forward
DBSNP:rs1575524
intronic
92783169
A C
forward
DBSNP:rs9556281
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
92783504
A T
reverse
DBSNP:rs1952361
intronic
92784275
A G
forward
DBSNP:rs12872549
intronic
92784612
A G
forward
DBSNP:rs4773734
intronic
92784813
G T
forward
DBSNP:rs4773735
intronic
92785756
C T
forward
DBSNP:rs4771870
intronic
92786639
C T
forward
DBSNP:rs9561314
intronic
92787034
C T
reverse
DBSNP:rs3751417
intronic
92787376
G T
reverse
DBSNP:rs3829394
intronic
92787726
C T
forward
DBSNP:rs9561315
intronic
92787919
A G
forward
DBSNP:rs9556282
intronic
92788005
C T
forward
DBSNP:rs9561316
intronic
92788179
C T
forward
DBSNP:rs4142601
intronic
92788223
G T
forward
DBSNP:rs4142600
intronic
92788275
C T
forward
DBSNP:rs4142599
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
92789065
A G
forward
DBSNP:rs9561318
intronic
92789207
C G
forward
DBSNP:rs17234404
intronic
92789984
A G
forward
DBSNP:rs7331899
intronic
92790034
C T
forward
DBSNP:rs7339237
intronic
92790037
C T
forward
DBSNP:rs7339245
intronic
92790086
G T
forward
DBSNP:rs7332108
intronic
92790378
C T
forward
DBSNP:rs9561319
intronic
92790695
C G
forward
DBSNP:rs12854352
intronic
92790710
C T
forward
DBSNP:rs12866000
intronic
92790711
A T
forward
DBSNP:rs12858622
intronic
92790788
C T
forward
DBSNP:rs12866158
intronic
92790796
A G
forward
DBSNP:rs12854785
intronic
92790799
C G
forward
DBSNP:rs12854786
intronic
92791700
C G
reverse
DBSNP:rs1819341
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
92792165
C T
forward
DBSNP:rs12431053
intronic
92792459
A G
forward
DBSNP:rs9561320
intronic
92792523
A G
forward
DBSNP:rs9516224
intronic
92792816
A G
forward
DBSNP:rs4773737
intronic
92793366
A G
forward
DBSNP:rs1323983
intronic
92793406
A G
forward
DBSNP:rs9561321
intronic
92793543
A C
forward
DBSNP:rs9561322
intronic
92794001
A T
forward
DBSNP:rs9584108
intronic
92794221
C T
forward
DBSNP:rs16948658
intronic
92794613
C G
forward
DBSNP:rs16948663
intronic
92794913
A G
forward
DBSNP:rs12427699
intronic
92795138
A G
forward
DBSNP:rs12428621
intronic
92795638
G T
forward
DBSNP:rs7324202
intronic
92796128
C T
forward
DBSNP:rs12874252
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
92796581
A G
forward
DBSNP:rs4773738
intronic
92797135
A G
forward
DBSNP:rs6492659
intronic
92797584
C G
forward
DBSNP:rs7337291
intronic
92797655
G T
forward
DBSNP:rs1323984
intronic
92797742
C G
forward
DBSNP:rs1323985
intronic
92797773
A G
forward
DBSNP:rs1323986
intronic
92797945
C T
forward
DBSNP:rs8002366
intronic
92799048
A C
forward
DBSNP:rs9589714
intronic
92799178
C T
forward
DBSNP:rs12430328
intronic
92799368
C G
forward
DBSNP:rs16948700
intronic
92799562
C T
forward
DBSNP:rs12430561
intronic
92799676
C T
forward
DBSNP:rs12430568
intronic
92799878
C T
forward
DBSNP:rs12430581
intronic
92800029
C G
forward
DBSNP:rs7982050
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
92800459
C T
forward
DBSNP:rs7987095
intronic
92800681
C T
forward
DBSNP:rs7987449
intronic
92801007
A T
forward
DBSNP:rs7988684
intronic
92801065
C G
forward
DBSNP:rs7988183
intronic
92801141
C T
forward
DBSNP:rs12428081
intronic
92801172
A G
forward
DBSNP:rs9524016
intronic
92801175
A T
forward
DBSNP:rs9301869
intronic
92801480
A G
reverse
DBSNP:rs1323991
intronic
92802851
C G
forward
DBSNP:rs12876880
intronic
92803294
A G
forward
DBSNP:rs17300157
intronic
92803734
A G
forward
DBSNP:rs7983071
intronic
92803806
A G
forward
DBSNP:rs9524017
intronic
92803969
C T
forward
DBSNP:rs16948714
intronic
92804127
C T
forward
DBSNP:rs7985067
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
92804342
C T
forward
DBSNP:rs7989707
intronic
92804608
G T
forward
DBSNP:rs9561323
intronic
92804795
A T
forward
DBSNP:rs9561324
intronic
92804893
C T
forward
DBSNP:rs9561325
intronic
92805108
C T
forward
DBSNP:rs9561326
intronic
92805516
A G
forward
DBSNP:rs12430181
intronic
92805575
A G
forward
DBSNP:rs1408209
intronic
92805725
A T
forward
DBSNP:rs1408210
intronic
92806062
C T
reverse
DBSNP:rs767214
intronic
92806134
C T
forward
DBSNP:rs17267669
intronic
92806329
C T
reverse
DBSNP:rs767213
intronic
92806455
A G
reverse
DBSNP:rs2225189
intronic
92806801
A G
reverse
DBSNP:rs995811
intronic
92807207
C T
reverse
DBSNP:rs995810
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
92807479
C T
forward
DBSNP:rs1323974
intronic
92807493
G T
forward
DBSNP:rs4771871
intronic
92807544
A T
forward
DBSNP:rs1323975
intronic
92807947
A G
forward
DBSNP:rs9301870
intronic
92807987
C G
forward
DBSNP:rs9589715
intronic
92808180
A G
forward
DBSNP:rs16948736
intronic
92808445
A G
forward
DBSNP:rs12872918
intronic
92809170
A G
forward
DBSNP:rs9561329
intronic
92809859
A G
forward
DBSNP:rs16952678
intronic
92810012
C T
forward
DBSNP:rs2038725
intronic
92810101
A T
forward
DBSNP:rs2038726
intronic
92810294
A G
forward
DBSNP:rs9301871
intronic
92810299
C T
forward
DBSNP:rs9301872
intronic
92810407
C G
forward
DBSNP:rs9301873
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
92810491
C T
forward
DBSNP:rs9556285
intronic
92810724
G T
forward
DBSNP:rs12427984
intronic
92810915
A G
forward
DBSNP:rs12867297
intronic
92811349
A T
forward
DBSNP:rs1323976
intronic
92811969
C T
forward
DBSNP:rs9301874
intronic
92812046
C T
forward
DBSNP:rs9301875
intronic
92812105
A C
forward
DBSNP:rs12872256
intronic
92812558
C T
forward
DBSNP:rs4771872
intronic
92812562
C G
forward
DBSNP:rs4773739
intronic
92812626
C T
forward
DBSNP:rs7981910
intronic
92812668
C T
forward
DBSNP:rs4771873
intronic
92812967
A G
forward
DBSNP:rs1323977
intronic
92813041
C T
forward
DBSNP:rs7999261
intronic
92813231
A G
forward
DBSNP:rs9516225
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
92813392
A T
forward
DBSNP:rs11840040
intronic
92814145
A C
forward
DBSNP:rs9561330
intronic
92814266
C T
forward
DBSNP:rs9524018
intronic
92814523
A T
forward
DBSNP:rs4360801
intronic
92814752
A C
forward
DBSNP:rs9524019
intronic
92815352
C T
forward
DBSNP:rs9556286
intronic
92815477
A G
forward
DBSNP:rs9561331
intronic
92816048
A T
forward
DBSNP:rs9524020
intronic
92816172
A G
forward
DBSNP:rs9524021
intronic
92816762
A G
forward
DBSNP:rs9524022
intronic
92817359
A T
forward
DBSNP:rs9561332
intronic
92817835
C T
forward
DBSNP:rs9516226
intronic
92818535
C T
forward
DBSNP:rs12017431
intronic
92818551
C T
forward
DBSNP:rs12016738
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
92818567
C T
forward
DBSNP:rs12017435
intronic
92818573
C G
forward
DBSNP:rs12016740
intronic
92818575
C T
forward
DBSNP:rs9589716
intronic
92818591
C T
forward
DBSNP:rs12017436
intronic
92818797
C T
forward
DBSNP:rs9589718
intronic
92819364
C T
forward
DBSNP:rs9524023
intronic
92819688
A G
forward
DBSNP:rs9301876
intronic
92819856
A G
forward
DBSNP:rs9301877
intronic
92820767
A G
forward
DBSNP:rs1324001
intronic
92820949
A G
forward
DBSNP:rs9524024
intronic
92821003
C T
forward
DBSNP:rs12872923
intronic
92821025
A T
forward
DBSNP:rs9524025
intronic
92821271
A G
forward
DBSNP:rs9524026
intronic
92821554
G T
forward
DBSNP:rs9524027
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
92822818
A G
forward
DBSNP:rs9589719
intronic
92822984
C T
forward
DBSNP:rs4771874
intronic
92823368
A G
forward
DBSNP:rs1359200
intronic
92824398
A G
forward
DBSNP:rs9524028
intronic
92824662
A G
forward
DBSNP:rs9589721
intronic
92825237
A T
forward
DBSNP:rs4426226
intronic
92825894
A G
forward
DBSNP:rs1323971
intronic
92826023
A G
forward
DBSNP:rs1924384
intronic
92826196
A T
forward
DBSNP:rs4001859
intronic
92826874
A G
forward
DBSNP:rs4325418
intronic
92827149
C T
forward
DBSNP:rs9524029
intronic
92827166
G T
forward
DBSNP:rs9524030
intronic
92827289
C T
forward
DBSNP:rs9524031
intronic
92827462
A G
forward
DBSNP:rs942350
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
92827867
A G
forward
DBSNP:rs12184580
intronic
92828057
A G
forward
DBSNP:rs7992198
intronic
92828143
A G
forward
DBSNP:rs9516227
intronic
92828645
C T
forward
DBSNP:rs4773740
intronic
92828694
C T
forward
DBSNP:rs4773741
intronic
92828898
G T
forward
DBSNP:rs4773742
intronic
92828990
C T
forward
DBSNP:rs9589722
intronic
92829001
C G
forward
DBSNP:rs9524033
intronic
92830058
C T
forward
DBSNP:rs1924385
intronic
92830065
A C
forward
DBSNP:rs11618128
intronic
92830122
A G
forward
DBSNP:rs9589723
intronic
92830134
A T
forward
DBSNP:rs9524034
intronic
92830708
C T
forward
DBSNP:rs9524035
intronic
92830866
A G
forward
DBSNP:rs9589724
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
92830991
A G
forward
DBSNP:rs12856377
intronic
92831415
A G
forward
DBSNP:rs723850
intronic
92831643
A C
forward
DBSNP:rs16948740
intronic
92832053
A G
forward
DBSNP:rs9561334
intronic
92832058
A T
forward
DBSNP:rs9561335
intronic
92832141
A G
forward
DBSNP:rs9561336
intronic
92832235
A G
forward
DBSNP:rs12865188
intronic
92832520
A C
forward
DBSNP:rs16948743
intronic
92832935
A G
forward
DBSNP:rs1408208
intronic
92833192
C T
forward
DBSNP:rs7328357
intronic
92833425
C T
forward
DBSNP:rs12430278
intronic
92833549
C G
forward
DBSNP:rs12875395
intronic
92833653
A C
forward
DBSNP:rs7997302
intronic
92834057
C G
forward
DBSNP:rs16948746
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
92834252
A G
forward
DBSNP:rs2813611
intronic
92834399
C T
reverse
DBSNP:rs2762122
intronic
92834653
A G
forward
DBSNP:rs9589725
intronic
92835301
A T
forward
DBSNP:rs9524036
intronic
92835468
A G
forward
DBSNP:rs9524037
intronic
92835715
C G
forward
DBSNP:rs12184670
intronic
92835845
A G
forward
DBSNP:rs2813615
intronic
92836183
C T
forward
DBSNP:rs9524038
intronic
92836195
A T
forward
DBSNP:rs9516228
intronic
92836263
A G
forward
DBSNP:rs9524039
intronic
92836336
A G
forward
DBSNP:rs9556288
intronic
92837586
C T
forward
DBSNP:rs7336981
intronic
92837731
C T
forward
DBSNP:rs12877939
intronic
92838236
C T
forward
DBSNP:rs9589726
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
92839036
C T
forward
DBSNP:rs8001600
intronic
92839168
C T
forward
DBSNP:rs9589727
intronic
92839172
A G
forward
DBSNP:rs9561337
intronic
92839782
A G
forward
DBSNP:rs1408212
intronic
92839785
A G
forward
DBSNP:rs11839757
intronic
92839914
G T
forward
DBSNP:rs1408213
intronic
92839967
C T
forward
DBSNP:rs12865978
intronic
92840149
C T
forward
DBSNP:rs1408214
intronic
92840158
C T
forward
DBSNP:rs17300206
intronic
92840439
C T
forward
DBSNP:rs9524041
intronic
92841273
A G
forward
DBSNP:rs9301878
intronic
92841344
C T
forward
DBSNP:rs9301879
intronic
92842063
A G
reverse
DBSNP:rs876808
intronic
92842134
C G
forward
DBSNP:rs7991595
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
92843036
A T
forward
DBSNP:rs17188928
intronic
92843381
G T
forward
DBSNP:rs9524042
intronic
92843383
G T
forward
DBSNP:rs12858085
intronic
92843387
A C
reverse
DBSNP:rs2762121
intronic
92843518
A C
forward
DBSNP:rs4773744
intronic
92843542
A G
forward
DBSNP:rs2813596
intronic
92843605
C G
reverse
DBSNP:rs2762120
intronic
92843628
A G
forward
DBSNP:rs12859238
intronic
92843677
A T
reverse
DBSNP:rs2762119
intronic
92843886
A G
reverse
DBSNP:rs2762118
intronic
92844031
G T
reverse
DBSNP:rs2762117
intronic
92844045
A G
reverse
DBSNP:rs2762116
intronic
92844323
A C
forward
DBSNP:rs9524044
intronic
92844789
A G
reverse
DBSNP:rs2762115
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
92845501
A G
reverse
DBSNP:rs2762114
intronic
92846257
A G
forward
DBSNP:rs7996825
intronic
92846481
A C
forward
DBSNP:rs12020418
intronic
92846536
C T
forward
DBSNP:rs9524046
intronic
92846642
A C
forward
DBSNP:rs7338959
intronic
92846807
A G
forward
DBSNP:rs7337108
intronic
92847075
G T
forward
DBSNP:rs2892657
intronic
92847789
A G
forward
DBSNP:rs11618799
intronic
92847878
A G
forward
DBSNP:rs11618812
intronic
92848282
A G
reverse
DBSNP:rs2762113
intronic
92848491
C T
forward
DBSNP:rs9524047
intronic
92848689
A G
reverse
DBSNP:rs2762112
intronic
92848927
C T
forward
DBSNP:rs7317246
intronic
92849115
A G
reverse
DBSNP:rs2762111
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
92849517
A C
forward
DBSNP:rs9524048
intronic
92849890
C T
reverse
DBSNP:rs2762109
intronic
92850034
C T
forward
DBSNP:rs7323858
intronic
92850091
C T
forward
DBSNP:rs7329539
intronic
92850324
C G
reverse
DBSNP:rs2762108
intronic
92850347
G T
reverse
DBSNP:rs2762107
intronic
92850358
C G
reverse
DBSNP:rs2762106
intronic
92850683
C T
forward
DBSNP:rs9516229
intronic
92850896
G T
reverse
DBSNP:rs2762105
intronic
92850925
G T
reverse
DBSNP:rs2762104
intronic
92851201
G T
reverse
DBSNP:rs2762103
intronic
92851242
G T
forward
DBSNP:rs9524049
intronic
92851477
A G
forward
DBSNP:rs1408218
intronic
92851534
C T
forward
DBSNP:rs1408219
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
92851722
C T
forward
DBSNP:rs9516230
intronic
92851809
A G
forward
DBSNP:rs10507999
intronic
92851814
C G
forward
DBSNP:rs7335164
intronic
92852091
A C
forward
DBSNP:rs2813608
intronic
92852190
C T
reverse
DBSNP:rs2762100
intronic
92852323
G T
reverse
DBSNP:rs2762099
intronic
92852546
C T
forward
DBSNP:rs2813609
intronic
92852622
C T
reverse
DBSNP:rs2762098
intronic
92852622
A G
forward
DBSNP:rs9524050
intronic
92852858
C T
forward
DBSNP:rs2813610
intronic
92852878
C T
reverse
DBSNP:rs2762097
intronic
92853004
A C
reverse
DBSNP:rs2762096
intronic
92853146
A T
reverse
DBSNP:rs2762095
intronic
92853263
C T
forward
DBSNP:rs7320813
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
92854377
C G
forward
DBSNP:rs1323972
intronic
92855058
C T
forward
DBSNP:rs9524051
intronic
92855062
A G
reverse
DBSNP:rs2762093
intronic
92855566
A G
forward
DBSNP:rs9589728
intronic
92855793
A G
reverse
DBSNP:rs2762091
intronic
92855871
C G
forward
DBSNP:rs17267683
intronic
92856722
C G
reverse
DBSNP:rs942349
intronic
92857498
C T
forward
DBSNP:rs1323979
intronic
92857805
C T
reverse
DBSNP:rs2762090
intronic
92858420
A G
forward
DBSNP:rs9524052
intronic
92858423
A G
forward
DBSNP:rs1323980
intronic
92858819
A G
forward
DBSNP:rs12868741
intronic
92859491
C T
forward
DBSNP:rs1359198
intronic
92859800
A T
forward
DBSNP:rs9556289
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
92859810
A G
forward
DBSNP:rs9561340
intronic
92860096
A C
forward
DBSNP:rs1886205
intronic
92860211
C G
forward
DBSNP:rs17267690
intronic
92860635
C T
forward
DBSNP:rs9584111
intronic
92860697
C T
forward
DBSNP:rs1408211
intronic
92860869
C T
forward
DBSNP:rs1323982
intronic
92860927
C T
forward
DBSNP:rs9524053
intronic
92861001
A G
forward
DBSNP:rs17267697
intronic
92861496
C T
forward
DBSNP:rs12429685
intronic
92861635
G T
forward
DBSNP:rs9561341
intronic
92862511
A G
forward
DBSNP:rs12870661
intronic
92862587
A G
forward
DBSNP:rs9301880
intronic
92862617
A C
forward
DBSNP:rs9524054
intronic
92863067
A G
forward
DBSNP:rs12585851
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
92863187
A C
reverse
DBSNP:rs2762088
intronic
92864181
A T
forward
DBSNP:rs7998751
intronic
92864533
A C
forward
DBSNP:rs12585468
intronic
92864550
C G
forward
DBSNP:rs1323987
intronic
92864558
G T
forward
DBSNP:rs1323988
intronic
92864606
G T
forward
DBSNP:rs9589730
intronic
92864643
C T
forward
DBSNP:rs7317292
intronic
92864660
G T
forward
DBSNP:rs9589731
intronic
92865261
A C
forward
DBSNP:rs1323989
intronic
92865287
A G
forward
DBSNP:rs1323990
intronic
92865567
C T
forward
DBSNP:rs9524055
intronic
92866037
G T
forward
DBSNP:rs4771875
intronic
92866258
A G
forward
DBSNP:rs2813612
intronic
92866433
C T
forward
DBSNP:rs7329853
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
92867191
C T
forward
DBSNP:rs17234467
intronic
92867892
A C
forward
DBSNP:rs8001086
intronic
92867921
A G
forward
DBSNP:rs9589733
intronic
92868485
A T
forward
DBSNP:rs9561343
intronic
92868531
A C
forward
DBSNP:rs12874323
intronic
92868535
A C
forward
DBSNP:rs12874330
intronic
92868884
A G
forward
DBSNP:rs9561344
intronic
92869152
C T
forward
DBSNP:rs1830787
intronic
92869154
A G
forward
DBSNP:rs7333618
intronic
92869465
A G
forward
DBSNP:rs12856213
intronic
92869753
C T
forward
DBSNP:rs12865516
intronic
92869830
A C
forward
DBSNP:rs2813613
intronic
92870139
C T
forward
DBSNP:rs9589734
intronic
92871676
A C
forward
DBSNP:rs1408216
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
92872426
A G
forward
DBSNP:rs2038727
intronic
92872845
A G
forward
DBSNP:rs7999194
intronic
92873240
A G
forward
DBSNP:rs7997987
intronic
92873240
A G
forward
DBSNP:rs9561345
intronic
92873308
A C
forward
DBSNP:rs1323992
intronic
92873456
A G
forward
DBSNP:rs9561346
intronic
92873460
A G
forward
DBSNP:rs8002728
intronic
92873470
C T
forward
DBSNP:rs7987318
intronic
92873777
C T
forward
DBSNP:rs2813614
intronic
92873873
C G
forward
DBSNP:rs4773747
intronic
92874603
A G
reverse
DBSNP:rs2762076
intronic
92874780
A G
forward
DBSNP:rs17188977
intronic
92874849
A G
forward
DBSNP:rs1924383
intronic
92875091
C G
forward
DBSNP:rs16948775
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
92875229
A G
forward
DBSNP:rs9561347
intronic
92875229
A G
forward
DBSNP:rs11070057
intronic
92875486
A G
forward
DBSNP:rs9524057
intronic
92875490
A G
forward
DBSNP:rs10851334
intronic
92875562
A G
forward
DBSNP:rs1980727
intronic
92875628
A G
forward
DBSNP:rs7329962
intronic
92876078
G T
forward
DBSNP:rs12854387
intronic
92876159
C T
forward
DBSNP:rs9524058
intronic
92876159
C T
forward
DBSNP:rs12019827
intronic
92876230
A C
forward
DBSNP:rs12874982
intronic
92876250
G T
forward
DBSNP:rs12855239
intronic
92876481
A T
forward
DBSNP:rs12864706
intronic
92876482
A T
forward
DBSNP:rs12855291
intronic
92876543
A G
forward
DBSNP:rs12855610
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
92877062
A G
forward
DBSNP:rs9516231
intronic
92877166
A T
forward
DBSNP:rs12858016
intronic
92877520
G T
forward
DBSNP:rs9516232
intronic
92877551
A G
forward
DBSNP:rs12866067
intronic
92877995
A G
forward
DBSNP:rs7322644
intronic
92878016
C G
forward
DBSNP:rs17267711
intronic
92878095
A G
forward
DBSNP:rs16952683
intronic
92878308
G T
forward
DBSNP:rs2147155
intronic
92878400
C G
forward
DBSNP:rs10508000
intronic
92878566
C T
forward
DBSNP:rs10508001
intronic
92878870
G T
forward
DBSNP:rs4773748
intronic
92878938
A G
forward
DBSNP:rs10508002
intronic
92879149
A G
forward
DBSNP:rs10508003
intronic
92879657
G T
forward
DBSNP:rs958053
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
92880070
C T
forward
DBSNP:rs5005455
intronic
92880332
C G
forward
DBSNP:rs12870555
intronic
92880478
C T
forward
DBSNP:rs7334839
intronic
92880521
G T
forward
DBSNP:rs17188998
intronic
92881353
C T
forward
DBSNP:rs7998675
intronic
92881437
A T
forward
DBSNP:rs7999482
intronic
92881537
C T
forward
DBSNP:rs7999019
intronic
92881540
A T
reverse
DBSNP:rs1445269
intronic
92881960
C G
reverse
DBSNP:rs2762123
intronic
92882005
C T
forward
DBSNP:rs17189012
intronic
92882046
G T
forward
DBSNP:rs16948800
intronic
92882173
G T
forward
DBSNP:rs17267738
intronic
92882292
C T
forward
DBSNP:rs9524059
intronic
92882294
C T
forward
DBSNP:rs16948803
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
92882516
A G
reverse
DBSNP:rs2590536
intronic
92882558
A G
forward
DBSNP:rs12860734
intronic
92882633
A G
forward
DBSNP:rs9561348
intronic
92883053
C G
forward
DBSNP:rs12862901
intronic
92883055
G T
forward
DBSNP:rs12862911
intronic
92883454
C T
forward
DBSNP:rs7325511
intronic
92883597
C T
forward
DBSNP:rs7325769
intronic
92883598
A G
forward
DBSNP:rs7326501
intronic
92883652
A C
forward
DBSNP:rs7325937
intronic
92883675
G T
forward
DBSNP:rs7331613
intronic
92883810
A G
forward
DBSNP:rs11619994
intronic
92883850
G T
reverse
DBSNP:rs1445266
intronic
92884217
A T
forward
DBSNP:rs9524060
intronic
92884327
C T
forward
DBSNP:rs7331910
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
92884684
C T
reverse
DBSNP:rs1330496
intronic
92884784
G T
forward
DBSNP:rs7994743
intronic
92885466
A G
reverse
DBSNP:rs2762092
intronic
92885949
A T
reverse
DBSNP:rs2762089
intronic
92885983
C G
forward
DBSNP:rs7338402
intronic
92886123
A G
forward
DBSNP:rs7338634
intronic
92886708
C T
reverse
DBSNP:rs2762082
intronic
92887472
A G
forward
DBSNP:rs9589735
intronic
92888528
A G
forward
DBSNP:rs9524061
intronic
92888753
A G
forward
DBSNP:rs9584113
intronic
92888978
C T
forward
DBSNP:rs9524062
intronic
92889208
C T
forward
DBSNP:rs9524063
intronic
92889263
C T
forward
DBSNP:rs7988873
intronic
92889332
G T
forward
DBSNP:rs12876745
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
92890010
A T
reverse
DBSNP:rs1445264
intronic
92890196
A G
reverse
DBSNP:rs1445263
intronic
92890196
C T
forward
DBSNP:rs9524067
intronic
92890292
A T
reverse
DBSNP:rs1445262
intronic
92890928
G T
forward
DBSNP:rs9589737
intronic
92891055
C G
reverse
DBSNP:rs2590505
intronic
92891647
G T
forward
DBSNP:rs9556290
intronic
92891895
G T
forward
DBSNP:rs5007185
intronic
92892598
C T
reverse
DBSNP:rs1373835
intronic
92893004
A G
forward
DBSNP:rs4537877
intronic
92893161
C T
reverse
DBSNP:rs1373834
intronic
92894224
C T
forward
DBSNP:rs12876057
intronic
92894471
G T
forward
DBSNP:rs7322267
intronic
92894703
G T
reverse
DBSNP:rs1900046
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
92895046
A C
forward
DBSNP:rs9524069
intronic
92895302
C T
forward
DBSNP:rs9516233
intronic
92895509
G T
forward
DBSNP:rs7992272
intronic
92895806
C G
forward
DBSNP:rs12867723
intronic
92895946
C G
forward
DBSNP:rs12866847
intronic
92896234
A G
forward
DBSNP:rs12867304
intronic
92896599
A G
forward
DBSNP:rs7328425
intronic
92897217
G T
forward
DBSNP:rs4644730
intronic
92897218
G T
forward
DBSNP:rs4270038
intronic
92897857
C T
reverse
DBSNP:rs2590560
intronic
92898105
C T
forward
DBSNP:rs9524070
intronic
92898354
A C
forward
DBSNP:rs9516234
intronic
92898549
C T
forward
DBSNP:rs12431371
intronic
92899287
A G
forward
DBSNP:rs11070059
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
92899324
A T
forward
DBSNP:rs11843793
intronic
92899418
C T
forward
DBSNP:rs11838734
intronic
92899540
A C
reverse
DBSNP:rs973303
intronic
92899659
A T
forward
DBSNP:rs4412846
intronic
92899704
A G
forward
DBSNP:rs12877660
intronic
92899737
A G
reverse
DBSNP:rs973302
intronic
92899804
C T
forward
DBSNP:rs12855671
intronic
92899876
C T
reverse
DBSNP:rs1987682
intronic
92899888
C G
reverse
DBSNP:rs1987681
intronic
92900024
C G
forward
DBSNP:rs8000632
intronic
92900111
C G
forward
DBSNP:rs8000827
intronic
92900171
G T
forward
DBSNP:rs8000987
intronic
92900258
A G
forward
DBSNP:rs8001170
intronic
92900400
G T
forward
DBSNP:rs9556291
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
92900740
C T
reverse
DBSNP:rs2590559
intronic
92901123
C T
forward
DBSNP:rs12866595
intronic
92901302
C G
reverse
DBSNP:rs920956
intronic
92901397
A G
reverse
DBSNP:rs920955
intronic
92901462
C T
reverse
DBSNP:rs920954
intronic
92901598
G T
reverse
DBSNP:rs1867591
intronic
92901816
A G
forward
DBSNP:rs2813616
intronic
92902110
A G
reverse
DBSNP:rs1445275
intronic
92902577
C T
forward
DBSNP:rs10508004
intronic
92902731
A G
forward
DBSNP:rs9524073
intronic
92902743
A G
forward
DBSNP:rs9524074
intronic
92902754
A C
forward
DBSNP:rs7998856
intronic
92902846
C T
forward
DBSNP:rs2813617
intronic
92903287
C T
forward
DBSNP:rs9301881
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
92903506
C T
forward
DBSNP:rs2813618
intronic
92903545
G T
forward
DBSNP:rs2813619
intronic
92903667
A C
forward
DBSNP:rs10508005
intronic
92903799
C G
reverse
DBSNP:rs2590558
intronic
92903882
A G
reverse
DBSNP:rs2590557
intronic
92903885
A G
forward
DBSNP:rs11841335
intronic
92904091
A T
forward
DBSNP:rs9516235
intronic
92904183
G T
forward
DBSNP:rs9561350
intronic
92904186
C T
forward
DBSNP:rs9561351
intronic
92904295
A G
forward
DBSNP:rs9561352
intronic
92904341
C G
forward
DBSNP:rs9556292
intronic
92904443
A C
forward
DBSNP:rs9561353
intronic
92904476
A G
forward
DBSNP:rs9556293
intronic
92904866
G T
forward
DBSNP:rs12873103
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
92905071
C G
forward
DBSNP:rs12867924
intronic
92905281
A G
forward
DBSNP:rs2813623
intronic
92905511
A G
forward
DBSNP:rs12872174
intronic
92905566
C G
forward
DBSNP:rs2813624
intronic
92905814
A C
forward
DBSNP:rs12873626
intronic
92905969
A G
forward
DBSNP:rs11619170
intronic
92905988
A C
forward
DBSNP:rs9556294
intronic
92906113
A G
forward
DBSNP:rs11618179
intronic
92906253
A G
forward
DBSNP:rs10454518
intronic
92906349
A G
forward
DBSNP:rs11619421
intronic
92906548
C T
forward
DBSNP:rs11617308
intronic
92906638
C T
forward
DBSNP:rs2813625
intronic
92907255
A G
forward
DBSNP:rs8000712
intronic
92907270
A G
forward
DBSNP:rs2813626
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
92907969
C G
forward
DBSNP:rs2813627
intronic
92908199
A G
reverse
DBSNP:rs2590556
intronic
92908471
A G
reverse
DBSNP:rs2590555
intronic
92908692
C T
forward
DBSNP:rs12872716
intronic
92908747
A G
forward
DBSNP:rs12871771
intronic
92908812
A C
forward
DBSNP:rs2813628
intronic
92908969
C T
forward
DBSNP:rs12585159
intronic
92909085
A G
forward
DBSNP:rs2813629
intronic
92909117
A G
forward
DBSNP:rs12583509
intronic
92909213
A G
forward
DBSNP:rs12873979
intronic
92909520
A G
forward
DBSNP:rs2813630
intronic
92909686
C T
forward
DBSNP:rs2813631
intronic
92909750
A G
reverse
DBSNP:rs2590554
intronic
92909789
C G
forward
DBSNP:rs9301882
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
92910211
C T
forward
DBSNP:rs11619543
intronic
92910232
C T
forward
DBSNP:rs11619550
intronic
92910748
G T
forward
DBSNP:rs12869376
intronic
92910764
C T
forward
DBSNP:rs7320356
intronic
92910800
A G
reverse
DBSNP:rs1445274
intronic
92910812
A T
forward
DBSNP:rs7321059
intronic
92911239
A G
forward
DBSNP:rs7321999
intronic
92911390
A G
reverse
DBSNP:rs2028789
intronic
92911670
A G
reverse
DBSNP:rs1947079
intronic
92911758
A T
forward
DBSNP:rs9556295
intronic
92911849
A G
reverse
DBSNP:rs1947078
intronic
92911903
A T
reverse
DBSNP:rs1947077
intronic
92912538
A G
forward
DBSNP:rs7331587
intronic
92912596
A G
reverse
DBSNP:rs996463
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
92912850
C T
reverse
DBSNP:rs996461
intronic
92913047
C T
reverse
DBSNP:rs996460
intronic
92913235
A G
forward
DBSNP:rs9524075
intronic
92913277
C T
reverse
DBSNP:rs2590553
intronic
92913595
A G
reverse
DBSNP:rs1445273
intronic
92913734
A G
reverse
DBSNP:rs1445272
intronic
92913812
A T
reverse
DBSNP:rs1445271
intronic
92913836
C T
forward
DBSNP:rs2813632
intronic
92914022
A G
forward
DBSNP:rs12583911
intronic
92914238
A G
forward
DBSNP:rs9524076
intronic
92914260
G T
forward
DBSNP:rs2813633
intronic
92914449
A T
forward
DBSNP:rs6492660
intronic
92914495
G T
reverse
DBSNP:rs1900051
intronic
92914501
C T
reverse
DBSNP:rs1900050
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
92915597
C G
forward
DBSNP:rs7491004
intronic
92915736
A G
forward
DBSNP:rs2813636
intronic
92916187
C T
reverse
DBSNP:rs895194
intronic
92916576
A G
reverse
DBSNP:rs895193
intronic
92916952
A T
forward
DBSNP:rs2813637
intronic
92916959
C T
reverse
DBSNP:rs974544
intronic
92917006
A T
forward
DBSNP:rs12584622
intronic
92917028
A G
reverse
DBSNP:rs1348652
intronic
92917030
A T
reverse
DBSNP:rs974543
intronic
92917051
C T
reverse
DBSNP:rs974542
intronic
92917686
C T
reverse
DBSNP:rs2590549
intronic
92917827
A T
forward
DBSNP:rs12869133
intronic
92917830
C T
forward
DBSNP:rs12869134
intronic
92918996
C T
forward
DBSNP:rs9561354
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
92920202
C T
forward
DBSNP:rs9584116
intronic
92920781
A C
reverse
DBSNP:rs2590548
intronic
92921145
C T
forward
DBSNP:rs9516237
intronic
92921176
A G
reverse
DBSNP:rs1445270
intronic
92921292
A G
forward
DBSNP:rs9524077
intronic
92921491
A G
forward
DBSNP:rs12874465
intronic
92921522
A G
forward
DBSNP:rs9561355
intronic
92921550
A G
reverse
DBSNP:rs2590547
intronic
92921795
G T
forward
DBSNP:rs9561356
intronic
92921845
C G
forward
DBSNP:rs9301883
intronic
92921964
A G
reverse
DBSNP:rs2590545
intronic
92922000
A G
forward
DBSNP:rs9524078
intronic
92922154
A G
reverse
DBSNP:rs2590544
intronic
92922175
C T
forward
DBSNP:rs9524079
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
92922735
A G
forward
DBSNP:rs11619626
intronic
92922746
C T
forward
DBSNP:rs11617476
intronic
92923727
A T
reverse
DBSNP:rs2084055
intronic
92923889
C T
forward
DBSNP:rs16948838
intronic
92924086
C T
forward
DBSNP:rs9524080
intronic
92924102
A G
forward
DBSNP:rs16948844
intronic
92924826
C T
forward
DBSNP:rs7994607
intronic
92925024
C T
forward
DBSNP:rs9561358
intronic
92925678
C T
forward
DBSNP:rs9524081
intronic
92925826
C G
forward
DBSNP:rs16948846
intronic
92925982
C T
forward
DBSNP:rs4400922
intronic
92926036
C T
forward
DBSNP:rs9524082
intronic
92926520
A G
forward
DBSNP:rs17234537
intronic
92927095
A G
forward
DBSNP:rs9556298
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
92927295
C T
forward
DBSNP:rs9561359
intronic
92927597
A G
reverse
DBSNP:rs1373838
intronic
92927984
A G
forward
DBSNP:rs4238306
intronic
92928171
C G
forward
DBSNP:rs12871207
intronic
92928172
A G
forward
DBSNP:rs7990422
intronic
92928370
C T
forward
DBSNP:rs7990894
intronic
92929154
G T
forward
DBSNP:rs9561360
intronic
92929485
A G
forward
DBSNP:rs9301884
intronic
92929783
A G
forward
DBSNP:rs9301885
intronic
92930999
A G
forward
DBSNP:rs9561361
intronic
92931063
C T
forward
DBSNP:rs7982827
intronic
92931393
A G
forward
DBSNP:rs7981060
intronic
92931793
A G
forward
DBSNP:rs9584118
intronic
92932648
C T
forward
DBSNP:rs11620291
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
92932973
A G
forward
DBSNP:rs9516239
intronic
92933062
A G
forward
DBSNP:rs9516240
intronic
92933140
C T
forward
DBSNP:rs9516241
intronic
92933399
C G
forward
DBSNP:rs4427663
intronic
92933434
C T
forward
DBSNP:rs9561362
intronic
92933894
C T
forward
DBSNP:rs9524083
intronic
92933914
A T
forward
DBSNP:rs9524084
intronic
92934010
A C
forward
DBSNP:rs7996583
intronic
92934052
A T
forward
DBSNP:rs16948857
intronic
92934082
A G
forward
DBSNP:rs12586008
intronic
92934281
A T
forward
DBSNP:rs9556299
intronic
92934334
A C
forward
DBSNP:rs9524085
intronic
92934476
A C
forward
DBSNP:rs17189068
intronic
92934504
A G
reverse
DBSNP:rs4123444
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
92934725
A C
forward
DBSNP:rs12856019
intronic
92935007
C T
forward
DBSNP:rs9556300
intronic
92935402
C T
reverse
DBSNP:rs3858835
intronic
92935451
C T
reverse
DBSNP:rs3858836
intronic
92935477
C G
reverse
DBSNP:rs3858837
intronic
92935689
A G
forward
DBSNP:rs16948866
intronic
92936396
A G
forward
DBSNP:rs17267801
intronic
92937066
A G
forward
DBSNP:rs9524088
intronic
92937162
A G
forward
DBSNP:rs4771876
intronic
92937209
A C
forward
DBSNP:rs9524089
intronic
92937327
C T
forward
DBSNP:rs7997642
intronic
92937383
A G
forward
DBSNP:rs12020313
intronic
92937392
A G
forward
DBSNP:rs9524090
intronic
92937568
G T
forward
DBSNP:rs12859589
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
92937594
A G
forward
DBSNP:rs12875060
intronic
92937612
C T
forward
DBSNP:rs12876147
intronic
92937645
C T
forward
DBSNP:rs9524091
intronic
92937684
A G
forward
DBSNP:rs12875219
intronic
92937691
C G
forward
DBSNP:rs12876296
intronic
92937715
A T
forward
DBSNP:rs12860042
intronic
92937723
A T
forward
DBSNP:rs12860047
intronic
92937750
A T
forward
DBSNP:rs12860357
intronic
92937759
A G
forward
DBSNP:rs12875366
intronic
92937767
G T
forward
DBSNP:rs12860376
intronic
92938132
A G
forward
DBSNP:rs2813586
intronic
92938606
A C
forward
DBSNP:rs11842134
intronic
92938613
C T
forward
DBSNP:rs9589744
intronic
92939089
C T
forward
DBSNP:rs12873156
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
92939559
C G
forward
DBSNP:rs7998238
intronic
92940128
C T
forward
DBSNP:rs7320040
intronic
92940231
A C
reverse
DBSNP:rs3901738
intronic
92940640
A G
forward
DBSNP:rs7320632
intronic
92940714
C G
forward
DBSNP:rs12864622
intronic
92940715
C T
forward
DBSNP:rs12869096
intronic
92940735
C T
forward
DBSNP:rs9561363
intronic
92940753
C T
forward
DBSNP:rs9589746
intronic
92940754
C T
forward
DBSNP:rs9589747
intronic
92940938
A C
forward
DBSNP:rs12018531
intronic
92941399
A G
forward
DBSNP:rs12016962
intronic
92941435
G T
forward
DBSNP:rs12017509
intronic
92941448
A T
forward
DBSNP:rs12016966
intronic
92941483
A G
forward
DBSNP:rs12017510
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
92941594
A G
forward
DBSNP:rs12385860
intronic
92941694
A G
forward
DBSNP:rs9561364
intronic
92941699
A G
forward
DBSNP:rs9561365
intronic
92941733
A C
forward
DBSNP:rs9561366
intronic
92941735
G T
forward
DBSNP:rs9561367
intronic
92941851
C T
forward
DBSNP:rs12385891
intronic
92941856
A G
forward
DBSNP:rs12385861
intronic
92941994
G T
forward
DBSNP:rs9524093
intronic
92942050
A G
forward
DBSNP:rs12385840
intronic
92942110
C T
forward
DBSNP:rs9561368
intronic
92942120
C T
forward
DBSNP:rs9524094
intronic
92942132
A T
forward
DBSNP:rs9524095
intronic
92942574
G T
forward
DBSNP:rs9524096
intronic
92942613
C G
forward
DBSNP:rs9561369
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
92942824
C T
forward
DBSNP:rs12017261
intronic
92943511
G T
forward
DBSNP:rs12020074
intronic
92943739
A C
forward
DBSNP:rs12560348
intronic
92943752
A T
forward
DBSNP:rs7399677
intronic
92943828
G T
forward
DBSNP:rs7399687
intronic
92943952
A G
forward
DBSNP:rs8001845
intronic
92944121
A T
forward
DBSNP:rs7982043
intronic
92944163
A C
forward
DBSNP:rs7399390
intronic
92944183
A T
forward
DBSNP:rs7986854
intronic
92944199
A C
forward
DBSNP:rs7399392
intronic
92944280
A C
forward
DBSNP:rs12017323
intronic
92944591
A G
forward
DBSNP:rs10851336
intronic
92945850
C T
forward
DBSNP:rs9589752
intronic
92945974
A G
forward
DBSNP:rs9584121
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
92946272
C G
forward
DBSNP:rs6492662
intronic
92946316
C G
forward
DBSNP:rs7330703
intronic
92946358
C T
forward
DBSNP:rs6492663
intronic
92946392
C T
forward
DBSNP:rs9584122
intronic
92946419
C T
forward
DBSNP:rs7491767
intronic
92946439
C G
forward
DBSNP:rs7491598
intronic
92946679
G T
forward
DBSNP:rs7334759
intronic
92946883
A C
forward
DBSNP:rs6492664
intronic
92946890
G T
forward
DBSNP:rs2813588
intronic
92947121
A C
forward
DBSNP:rs8000028
intronic
92947226
G T
forward
DBSNP:rs7983734
intronic
92947349
C G
forward
DBSNP:rs7982949
intronic
92947669
C T
forward
DBSNP:rs2389005
intronic
92948013
C T
forward
DBSNP:rs9561374
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
92948237
A C
forward
DBSNP:rs9561375
intronic
92948247
C G
forward
DBSNP:rs9561376
intronic
92948794
C T
forward
DBSNP:rs9556303
intronic
92948919
A T
forward
DBSNP:rs9561377
intronic
92948939
C T
forward
DBSNP:rs12560331
intronic
92949924
A G
forward
DBSNP:rs9301886
intronic
92949938
C T
forward
DBSNP:rs9301887
intronic
92950579
C T
reverse
DBSNP:rs2590508
intronic
92950968
A C
forward
DBSNP:rs4567582
intronic
92951059
A G
forward
DBSNP:rs17267815
intronic
92951195
C T
forward
DBSNP:rs2590509
intronic
92951293
A C
forward
DBSNP:rs2590514
intronic
92951298
C G
forward
DBSNP:rs2590515
intronic
92951673
G T
forward
DBSNP:rs7332793
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
92952200
C T
forward
DBSNP:rs1445254
intronic
92952227
A C
forward
DBSNP:rs9589753
intronic
92952385
A G
forward
DBSNP:rs8001786
intronic
92952411
A G
forward
DBSNP:rs10508006
intronic
92952570
C G
forward
DBSNP:rs11619603
intronic
92953293
A G
forward
DBSNP:rs2813589
intronic
92953374
A C
forward
DBSNP:rs9516244
intronic
92953664
A T
forward
DBSNP:rs12872372
intronic
92953771
A G
forward
DBSNP:rs7322845
intronic
92954403
A C
forward
DBSNP:rs4303337
intronic
92954425
A G
forward
DBSNP:rs4491363
intronic
92954540
A C
forward
DBSNP:rs2813590
intronic
92954571
G T
forward
DBSNP:rs2813591
intronic
92954597
A C
forward
DBSNP:rs2590510
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
92954708
A C
forward
DBSNP:rs2590511
intronic
92954711
A C
forward
DBSNP:rs2813592
intronic
92954996
A G
forward
DBSNP:rs2813593
intronic
92955000
A G
forward
DBSNP:rs9556304
intronic
92955178
C T
forward
DBSNP:rs9301889
intronic
92955482
C T
forward
DBSNP:rs9301890
intronic
92955681
A G
forward
DBSNP:rs2590512
intronic
92955704
C G
forward
DBSNP:rs2813594
intronic
92955827
C T
forward
DBSNP:rs9645881
intronic
92956135
A T
forward
DBSNP:rs9589755
intronic
92956916
A C
forward
DBSNP:rs12865946
intronic
92957123
C T
forward
DBSNP:rs9524101
intronic
92957147
A C
forward
DBSNP:rs7322234
intronic
92957367
A G
forward
DBSNP:rs2813595
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
92957667
A C
forward
DBSNP:rs2389006
intronic
92957774
G T
forward
DBSNP:rs1445267
intronic
92957801
C T
forward
DBSNP:rs9516245
intronic
92957904
A G
forward
DBSNP:rs4548730
intronic
92957943
A G
forward
DBSNP:rs12869636
intronic
92958865
C T
forward
DBSNP:rs2120944
intronic
92959093
A G
forward
DBSNP:rs10508007
intronic
92959296
A G
forward
DBSNP:rs12184868
intronic
92959443
A G
forward
DBSNP:rs16948883
intronic
92959576
C T
forward
DBSNP:rs2813597
intronic
92960372
G T
forward
DBSNP:rs2028787
intronic
92960599
A G
forward
DBSNP:rs2028788
intronic
92961091
A T
forward
DBSNP:rs2166240
intronic
92961135
A C
forward
DBSNP:rs2166241
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
92961213
A G
forward
DBSNP:rs11619500
intronic
92961223
A G
forward
DBSNP:rs9524102
intronic
92961227
A G
forward
DBSNP:rs9524103
intronic
92961229
A G
forward
DBSNP:rs9524104
intronic
92961241
A G
forward
DBSNP:rs9589756
intronic
92961249
A G
forward
DBSNP:rs9524105
intronic
92961251
A G
forward
DBSNP:rs9524106
intronic
92961253
A G
forward
DBSNP:rs9589757
intronic
92961261
A T
forward
DBSNP:rs9589758
intronic
92961504
A G
forward
DBSNP:rs9524107
intronic
92961604
C T
forward
DBSNP:rs9524108
intronic
92961676
A G
forward
DBSNP:rs2892658
intronic
92961688
G T
forward
DBSNP:rs9524109
intronic
92962213
A C
forward
DBSNP:rs1900047
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
92962253
C T
forward
DBSNP:rs1900049
intronic
92962529
C G
forward
DBSNP:rs1584145
intronic
92962611
C T
forward
DBSNP:rs1584146
intronic
92962686
C T
forward
DBSNP:rs1584147
intronic
92962750
A G
forward
DBSNP:rs1584148
intronic
92963348
A C
forward
DBSNP:rs2590516
intronic
92963429
A T
forward
DBSNP:rs7337099
intronic
92963548
C T
forward
DBSNP:rs7331487
intronic
92963759
G T
forward
DBSNP:rs2590517
intronic
92964088
C G
forward
DBSNP:rs16948894
intronic
92964148
C T
forward
DBSNP:rs2590518
intronic
92964164
A G
forward
DBSNP:rs2590519
intronic
92964240
G T
forward
DBSNP:rs2590520
intronic
92964442
A C
forward
DBSNP:rs9556305
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
92965062
C T
forward
DBSNP:rs2590522
intronic
92965062
C T
forward
DBSNP:rs9524110
intronic
92965136
C T
forward
DBSNP:rs17300352
intronic
92965395
A T
forward
DBSNP:rs12427940
intronic
92965649
G T
forward
DBSNP:rs1445268
intronic
92965762
G T
forward
DBSNP:rs2590523
intronic
92965763
A G
forward
DBSNP:rs2813598
intronic
92965934
A G
forward
DBSNP:rs2590524
intronic
92966177
A G
forward
DBSNP:rs2813599
intronic
92966224
A C
forward
DBSNP:rs12866798
intronic
92966287
A G
forward
DBSNP:rs2166242
intronic
92966511
C T
forward
DBSNP:rs2813600
intronic
92966687
A C
forward
DBSNP:rs9556306
intronic
92966746
C T
forward
DBSNP:rs11843472
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
92966893
C T
forward
DBSNP:rs2590525
intronic
92967185
G T
forward
DBSNP:rs9589759
intronic
92967586
C T
forward
DBSNP:rs2590526
intronic
92967643
A G
forward
DBSNP:rs2590527
intronic
92967902
A G
forward
DBSNP:rs9524111
intronic
92967972
A G
forward
DBSNP:rs2590528
intronic
92968072
A T
forward
DBSNP:rs2590529
intronic
92968128
A G
forward
DBSNP:rs2590530
intronic
92968223
A G
forward
DBSNP:rs2590531
intronic
92968430
C G
forward
DBSNP:rs2590532
intronic
92968488
G T
forward
DBSNP:rs2590533
intronic
92968529
C T
forward
DBSNP:rs2813602
intronic
92968608
G T
forward
DBSNP:rs2590534
intronic
92968672
C T
forward
DBSNP:rs17300373
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
92969103
A T
forward
DBSNP:rs2590537
intronic
92969689
A C
forward
DBSNP:rs2590538
intronic
92969698
A G
forward
DBSNP:rs9524112
intronic
92969868
C T
forward
DBSNP:rs2590539
intronic
92969992
G T
forward
DBSNP:rs2813603
intronic
92970757
A T
forward
DBSNP:rs2590540
intronic
92970952
C G
forward
DBSNP:rs2813604
intronic
92971233
A C
forward
DBSNP:rs2813605
intronic
92971544
A C
forward
DBSNP:rs2813606
intronic
92971689
G T
forward
DBSNP:rs9301891
intronic
92971979
A T
forward
DBSNP:rs2590541
intronic
92972147
C T
forward
DBSNP:rs2813607
intronic
92972181
G T
forward
DBSNP:rs12874738
intronic
92972428
G T
forward
DBSNP:rs9561383
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
92972672
A G
forward
DBSNP:rs7333593
intronic
92972733
A G
forward
DBSNP:rs12875340
intronic
92972737
G T
forward
DBSNP:rs7338822
intronic
92973017
A T
forward
DBSNP:rs975827
intronic
92973268
A T
forward
DBSNP:rs9524113
intronic
92973270
A T
forward
DBSNP:rs12583858
intronic
92973284
C T
forward
DBSNP:rs2389007
intronic
92973370
A T
forward
DBSNP:rs12865637
intronic
92973371
A T
forward
DBSNP:rs12857703
intronic
92973535
A G
forward
DBSNP:rs12017290
intronic
92973537
A G
forward
DBSNP:rs12017821
intronic
92973554
A C
forward
DBSNP:rs12858455
intronic
92974178
C T
forward
DBSNP:rs1445276
intronic
92974214
A G
forward
DBSNP:rs8002079
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
92974476
C G
forward
DBSNP:rs976420
intronic
92974507
C T
forward
DBSNP:rs976421
intronic
92974558
G T
forward
DBSNP:rs1318869
intronic
92974656
G T
forward
DBSNP:rs9589760
intronic
92974696
C G
forward
DBSNP:rs9561384
intronic
92974726
A G
forward
DBSNP:rs9516247
intronic
92975295
A G
forward
DBSNP:rs7322574
intronic
92975450
C T
forward
DBSNP:rs7328826
intronic
92975578
C T
forward
DBSNP:rs7329040
intronic
92975582
C T
forward
DBSNP:rs7329041
intronic
92976154
C G
forward
DBSNP:rs7993697
intronic
92976366
C T
forward
DBSNP:rs7981908
intronic
92976542
C T
forward
DBSNP:rs7998884
intronic
92976555
A G
forward
DBSNP:rs7999539
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
92976647
C T
forward
DBSNP:rs7999055
intronic
92976950
C T
forward
DBSNP:rs16948911
intronic
92977596
A C
forward
DBSNP:rs9589761
intronic
92978038
C T
forward
DBSNP:rs1445245
intronic
92978139
A G
forward
DBSNP:rs7984857
intronic
92978161
A G
forward
DBSNP:rs16948917
intronic
92978435
A G
reverse
DBSNP:rs3908638
intronic
92978707
C T
forward
DBSNP:rs7320003
intronic
92979364
A G
forward
DBSNP:rs1445246
intronic
92979401
A T
forward
DBSNP:rs1445247
intronic
92979484
G T
forward
DBSNP:rs9301892
intronic
92979792
A T
forward
DBSNP:rs9634634
intronic
92980350
A G
forward
DBSNP:rs16948925
intronic
92981684
A G
forward
DBSNP:rs3858838
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
92982166
A G
forward
DBSNP:rs6492665
intronic
92983099
A G
forward
DBSNP:rs1445248
intronic
92983217
A T
forward
DBSNP:rs7987709
intronic
92983297
C T
forward
DBSNP:rs7987887
intronic
92983698
C T
forward
DBSNP:rs9561387
intronic
92983961
C T
forward
DBSNP:rs3848058
intronic
92984307
C T
forward
DBSNP:rs4773749
intronic
92984667
A G
forward
DBSNP:rs17267829
intronic
92984698
A G
forward
DBSNP:rs13378963
intronic
92985151
A T
forward
DBSNP:rs9516248
intronic
92985956
A C
forward
DBSNP:rs7337681
intronic
92986120
A G
forward
DBSNP:rs3858839
intronic
92986151
A G
forward
DBSNP:rs12856048
intronic
92986348
A G
forward
DBSNP:rs9584123
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
92986459
A C
forward
DBSNP:rs9524114
intronic
92987167
C T
forward
DBSNP:rs17300394
intronic
92987276
A G
forward
DBSNP:rs6492666
intronic
92987353
A C
forward
DBSNP:rs12869656
intronic
92987408
C T
forward
DBSNP:rs7326344
intronic
92987452
A T
forward
DBSNP:rs9301893
intronic
92987475
C T
forward
DBSNP:rs9516249
intronic
92987511
C T
forward
DBSNP:rs7326571
intronic
92988267
A G
forward
DBSNP:rs9589763
intronic
92988429
C T
forward
DBSNP:rs7321553
intronic
92988804
C T
forward
DBSNP:rs7322180
intronic
92989233
G T
forward
DBSNP:rs9524115
intronic
92989287
C T
forward
DBSNP:rs9524116
intronic
92989634
A G
forward
DBSNP:rs9561388
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
92989883
A C
forward
DBSNP:rs11619145
intronic
92990330
C T
forward
DBSNP:rs7317039
intronic
92990353
C T
forward
DBSNP:rs4123443
intronic
92990664
G T
forward
DBSNP:rs7333716
intronic
92990675
G T
forward
DBSNP:rs9516250
intronic
92991125
A C
forward
DBSNP:rs12877038
intronic
92991430
C T
forward
DBSNP:rs9561389
intronic
92991431
C T
forward
DBSNP:rs9561390
intronic
92991529
A G
forward
DBSNP:rs9561391
intronic
92991766
C T
forward
DBSNP:rs11070060
intronic
92991975
A G
forward
DBSNP:rs12561369
intronic
92991980
C G
forward
DBSNP:rs12561007
intronic
92992013
A G
forward
DBSNP:rs12016769
intronic
92992025
C T
forward
DBSNP:rs12561010
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
92992436
C T
forward
DBSNP:rs12872743
intronic
92992669
C T
forward
DBSNP:rs9301895
intronic
92992902
A C
forward
DBSNP:rs12381086
intronic
92992992
A C
forward
DBSNP:rs12381088
intronic
92993292
A G
forward
DBSNP:rs9584124
intronic
92993393
C T
forward
DBSNP:rs9524117
intronic
92993394
A G
forward
DBSNP:rs9524118
intronic
92993629
C G
forward
DBSNP:rs9524119
intronic
92993754
C G
forward
DBSNP:rs9524120
intronic
92994063
C T
forward
DBSNP:rs9301896
intronic
92994333
G T
forward
DBSNP:rs9584125
intronic
92994526
A C
forward
DBSNP:rs9524121
intronic
92994854
C T
forward
DBSNP:rs17234656
intronic
92994862
A G
forward
DBSNP:rs7339321
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
92996284
C T
forward
DBSNP:rs17234663
intronic
92996441
C T
forward
DBSNP:rs16948955
intronic
92996449
C G
forward
DBSNP:rs16948958
intronic
92996612
C T
forward
DBSNP:rs9516251
intronic
92997143
C T
forward
DBSNP:rs4479094
intronic
92997284
A G
forward
DBSNP:rs9524122
intronic
92997412
A G
forward
DBSNP:rs9524123
intronic
92997427
A C
forward
DBSNP:rs4773750
intronic
92997739
C T
forward
DBSNP:rs12876135
intronic
92998056
A C
forward
DBSNP:rs9584126
intronic
92998059
A C
forward
DBSNP:rs9524124
intronic
92998095
A T
forward
DBSNP:rs9524125
intronic
92998221
C T
forward
DBSNP:rs16948962
intronic
92998231
G T
forward
DBSNP:rs9524126
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
92998837
A G
forward
DBSNP:rs9589765
intronic
92999007
C T
forward
DBSNP:rs16948967
intronic
92999668
A G
forward
DBSNP:rs9516252
intronic
92999771
C T
forward
DBSNP:rs9524128
intronic
93000119
A T
forward
DBSNP:rs9516253
intronic
93000260
A T
forward
DBSNP:rs7338160
intronic
93000373
C T
forward
DBSNP:rs7324617
intronic
93001553
A G
forward
DBSNP:rs7988171
intronic
93001574
A C
forward
DBSNP:rs11839136
intronic
93001575
G T
reverse
DBSNP:rs3814276
intronic
93002244
A C
reverse
DBSNP:rs3814275
intronic
93002620
A C
forward
DBSNP:rs9524129
intronic
93002620
A C
forward
DBSNP:rs12021195
intronic
93002672
A G
forward
DBSNP:rs3910918
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
93003413
C T
forward
DBSNP:rs11838442
intronic
93003583
A G
forward
DBSNP:rs7337720
intronic
93003583
A G
forward
DBSNP:rs9524130
intronic
93004155
G T
forward
DBSNP:rs7322667
intronic
93004245
A T
forward
DBSNP:rs7322835
intronic
93004247
A C
forward
DBSNP:rs9561393
intronic
93004328
A G
forward
DBSNP:rs4641605
intronic
93005218
C T
forward
DBSNP:rs9584127
intronic
93005219
A G
forward
DBSNP:rs12868099
intronic
93005517
C G
forward
DBSNP:rs1445250
intronic
93006179
C T
forward
DBSNP:rs11839320
intronic
93006387
C T
forward
DBSNP:rs16948971
intronic
93006460
A T
forward
DBSNP:rs16948976
intronic
93007150
A G
forward
DBSNP:rs9584128
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
93007769
A G
reverse
DBSNP:rs3848060
intronic
93007957
C T
forward
DBSNP:rs9524131
intronic
93008545
C T
forward
DBSNP:rs9584129
intronic
93008786
A G
forward
DBSNP:rs3910919
intronic
93008859
G T
forward
DBSNP:rs1445252
intronic
93009018
C T
forward
DBSNP:rs9589766
intronic
93009103
A C
forward
DBSNP:rs1445253
intronic
93009180
A G
forward
DBSNP:rs9561394
intronic
93009828
A G
forward
DBSNP:rs7335851
intronic
93009964
G T
forward
DBSNP:rs9584130
intronic
93010243
G T
forward
DBSNP:rs9589767
intronic
93010481
G T
forward
DBSNP:rs3848061
intronic
93010588
A C
forward
DBSNP:rs4529994
intronic
93011503
A G
forward
DBSNP:rs9589768
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
93012604
A G
forward
DBSNP:rs3848062
intronic
93012709
A T
forward
DBSNP:rs12877615
intronic
93013945
C T
forward
DBSNP:rs7338382
intronic
93014587
A G
forward
DBSNP:rs9561395
intronic
93016107
A G
forward
DBSNP:rs9589771
intronic
93016282
A G
forward
DBSNP:rs17300444
intronic
93016700
A C
forward
DBSNP:rs6492667
intronic
93016927
A G
forward
DBSNP:rs7333389
intronic
93017034
A G
forward
DBSNP:rs7333598
intronic
93017161
C T
forward
DBSNP:rs9556307
intronic
93017231
A G
forward
DBSNP:rs7334024
intronic
93017281
C G
forward
DBSNP:rs7350685
intronic
93017427
C T
forward
DBSNP:rs9589772
intronic
93017480
C T
forward
DBSNP:rs9589773
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
93017620
A G
forward
DBSNP:rs9584133
intronic
93017931<