Hedgehog Signaling Pathway Database
Home
About
Project Overview
About Us
Contact Us
Links
Privacy Policy
Hh Pathway
Hh  Overview
Hh Models
Pathway Schematic
Genes in Pathway
All Genes in Pathway
Genes in Hedgehog Production
Genes in Hedgehog Reception
Hedgehog Transcription Response
Animal Screens
Expression in Tissues
Expression in Tissues
BGEM Images
Diseases & Clinical Trials
Diseases
Human Mutations
Clinical Trials
Stem Cells
Publications
Reagents
Antibodies
Pharma Reagents
Proteins
Animal Strains
Grants & Patents
Grants
Patents
Human Mutations -
gsk3b
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
121028825
C T
forward
DBSNP:rs9837710
intronic
121028887
C T
forward
DBSNP:rs4261913
intronic
121029145
A T
forward
DBSNP:rs9875945
intronic
121029173
A G
forward
DBSNP:rs4552394
intronic
121029752
A C
forward
DBSNP:rs2873950
intronic
121033801
A G
forward
DBSNP:rs9826659
intronic
121035568
C T
forward
DBSNP:rs16830551
intronic
121037879
A G
forward
DBSNP:rs9819836
intronic
121038780
C T
forward
DBSNP:rs12494560
intronic
121038848
C T
forward
DBSNP:rs9784357
intronic
121039036
G T
forward
DBSNP:rs9784393
intronic
121039765
A C
forward
DBSNP:rs1546753
intronic
121040541
A T
forward
DBSNP:rs6808874
intronic
121041039
A G
forward
DBSNP:rs9874110
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
121043296
C T
forward
DBSNP:rs6805251
intronic
121044290
C T
forward
DBSNP:rs6790751
intronic
121045451
A G
forward
DBSNP:rs12330670
intronic
121045484
A C
forward
DBSNP:rs6414285
intronic
121045568
A G
forward
DBSNP:rs12330290
intronic
121046741
A G
forward
DBSNP:rs12330358
intronic
121049035
A G
forward
DBSNP:rs9850502
intronic
121049791
G T
reverse
DBSNP:rs3107669
intronic
121050243
G T
forward
DBSNP:rs12633127
intronic
121050813
C T
forward
DBSNP:rs10934500
intronic
121051156
C T
forward
DBSNP:rs9843873
intronic
121051511
A T
reverse
DBSNP:rs1719893
intronic
121051861
C T
forward
DBSNP:rs6804704
intronic
121052865
C T
forward
DBSNP:rs16830567
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
121054549
C G
forward
DBSNP:rs7641045
intronic
121054878
C T
forward
DBSNP:rs13320509
intronic
121055131
A G
reverse
DBSNP:rs2319397
intronic
121056371
C T
forward
DBSNP:rs7432733
intronic
121057480
A G
forward
DBSNP:rs9990259
intronic
121059459
A C
forward
DBSNP:rs7426503
intronic
121060543
G T
reverse
DBSNP:rs1719892
intronic
121060552
C T
reverse
DBSNP:rs1719891
intronic
121060558
C T
reverse
DBSNP:rs1719890
intronic
121060561
A G
forward
DBSNP:rs11914561
intronic
121061478
A T
reverse
DBSNP:rs1719889
intronic
121061570
A G
reverse
DBSNP:rs1719888
intronic
121062069
C T
forward
DBSNP:rs11927667
intronic
121062506
C G
forward
DBSNP:rs11923782
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
121063776
C T
forward
DBSNP:rs6773751
intronic
121063924
A G
forward
DBSNP:rs9864678
intronic
121063930
A T
forward
DBSNP:rs9826675
intronic
121063992
C T
forward
DBSNP:rs1969412
intronic
121066366
A G
reverse
DBSNP:rs1732170
intronic
121067005
A T
reverse
DBSNP:rs3107668
intronic
121067317
A T
reverse
DBSNP:rs1719887
intronic
121068380
A T
forward
DBSNP:rs7633279
intronic
121070741
A C
forward
DBSNP:rs6808975
intronic
121070782
A C
forward
DBSNP:rs9835522
intronic
121073012
A G
forward
DBSNP:rs1719894
intronic
121073478
C T
forward
DBSNP:rs9829763
intronic
121073570
A G
forward
DBSNP:rs4688042
intronic
121073664
C T
forward
DBSNP:rs9813864
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
121074999
A G
forward
DBSNP:rs9857226
intronic
121077178
C T
reverse
DBSNP:rs3108749
intronic
121078193
C T
reverse
DBSNP:rs1719895
intronic
121078820
A G
forward
DBSNP:rs6769820
intronic
121079204
A G
forward
DBSNP:rs12634889
intronic
121080970
C T
reverse
DBSNP:rs2461827
intronic
121081369
A G
reverse
DBSNP:rs1920543
intronic
121081415
A G
forward
DBSNP:rs6438551
intronic
121081480
C T
forward
DBSNP:rs4438691
intronic
121085287
A C
reverse
DBSNP:rs1732171
intronic
121085626
C T
forward
DBSNP:rs9869296
intronic
121085852
C T
forward
DBSNP:rs9849889
intronic
121087625
A G
forward
DBSNP:rs6764871
intronic
121087933
C T
forward
DBSNP:rs6765004
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
121090295
C T
reverse
DBSNP:rs1851578
intronic
121090464
A G
reverse
DBSNP:rs2319205
intronic
121090727
A G
forward
DBSNP:rs7432449
intronic
121090831
C T
forward
DBSNP:rs11708411
intronic
121090847
C T
forward
DBSNP:rs9841959
intronic
121091371
A G
forward
DBSNP:rs9289137
intronic
121091637
A C
forward
DBSNP:rs7624540
intronic
121091850
C T
forward
DBSNP:rs13320980
intronic
121092643
A T
forward
DBSNP:rs7639388
intronic
121093255
C T
forward
DBSNP:rs6795653
intronic
121093437
C T
forward
DBSNP:rs9853463
intronic
121093483
C T
forward
DBSNP:rs6782799
intronic
121094081
A G
forward
DBSNP:rs9838456
intronic
121094189
G T
forward
DBSNP:rs9858471
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
121095632
G T
reverse
DBSNP:rs2319398
intronic
121097489
A G
forward
DBSNP:rs13315412
intronic
121097570
G T
forward
DBSNP:rs13063358
intronic
121097596
G T
forward
DBSNP:rs13063378
intronic
121097621
G T
forward
DBSNP:rs13063398
intronic
121098065
C T
forward
DBSNP:rs13321783
intronic
121099428
C T
forward
DBSNP:rs13319151
intronic
121100485
A T
forward
DBSNP:rs6764250
intronic
121100743
A G
forward
DBSNP:rs12629015
intronic
121102020
A G
forward
DBSNP:rs7617372
intronic
121103794
C T
forward
DBSNP:rs11929468
intronic
121104438
A G
forward
DBSNP:rs9864153
intronic
121104704
C T
forward
DBSNP:rs4340737
intronic
121107170
A G
forward
DBSNP:rs17524805
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
121109937
C T
forward
DBSNP:rs1574154
intronic
121110622
C G
forward
DBSNP:rs9871701
intronic
121110998
C T
forward
DBSNP:rs9872321
intronic
121111715
C T
forward
DBSNP:rs13316265
intronic
121111785
A C
forward
DBSNP:rs13319559
intronic
121112611
G T
forward
DBSNP:rs7427035
intronic
121112655
C T
forward
DBSNP:rs7427020
intronic
121112968
C G
forward
DBSNP:rs7427094
intronic
121113788
C T
forward
DBSNP:rs13314595
intronic
121114039
G T
forward
DBSNP:rs9832865
intronic
121114504
A G
forward
DBSNP:rs6438552
intronic
121114976
A T
forward
DBSNP:rs9838093
intronic
121117552
A G
forward
DBSNP:rs13097471
intronic
121117752
C T
forward
DBSNP:rs9825770
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
121118786
A C
forward
DBSNP:rs6792572
intronic
121118897
A G
forward
DBSNP:rs2319399
intronic
121119210
A G
forward
DBSNP:rs5028245
intronic
121119401
C G
forward
DBSNP:rs2319401
intronic
121119735
C T
forward
DBSNP:rs6771503
intronic
121122719
A T
forward
DBSNP:rs6438553
intronic
121123069
G T
forward
DBSNP:rs9852797
intronic
121123604
G T
forward
DBSNP:rs13091343
intronic
121123605
G T
forward
DBSNP:rs13070864
intronic
121123956
A C
reverse
DBSNP:rs1980718
intronic
121123970
A C
forward
DBSNP:rs13091608
intronic
121124132
A G
forward
DBSNP:rs7431209
intronic
121125871
A G
forward
DBSNP:rs7620750
intronic
121126695
A G
forward
DBSNP:rs9815699
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
121130003
A G
forward
DBSNP:rs9879295
intronic
121131454
A T
forward
DBSNP:rs12106691
intronic
121131457
A T
forward
DBSNP:rs13082832
intronic
121131565
A G
forward
DBSNP:rs13064921
intronic
121132047
A G
forward
DBSNP:rs7639675
intronic
121133478
C T
forward
DBSNP:rs9878473
intronic
121133839
C T
forward
DBSNP:rs17204365
intronic
121135851
A C
forward
DBSNP:rs9835672
intronic
121136237
A T
forward
DBSNP:rs9836177
intronic
121138028
C T
forward
DBSNP:rs6797459
intronic
121138443
A G
forward
DBSNP:rs13322865
intronic
121138567
C T
forward
DBSNP:rs13327278
intronic
121138761
G T
forward
DBSNP:rs4491944
intronic
121141395
C T
forward
DBSNP:rs6807868
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
121143217
A G
forward
DBSNP:rs9845414
intronic
121144063
A C
forward
DBSNP:rs6775397
intronic
121146560
C T
forward
DBSNP:rs4688046
intronic
121148226
A G
forward
DBSNP:rs9843795
intronic
121148263
C T
forward
DBSNP:rs9826355
intronic
121148295
A G
forward
DBSNP:rs9881985
intronic
121148956
A G
reverse
DBSNP:rs13312998
intronic
121149336
A T
forward
DBSNP:rs9831646
intronic
121149979
A G
forward
DBSNP:rs9816765
intronic
121150975
C T
forward
DBSNP:rs12054090
intronic
121151826
C T
forward
DBSNP:rs10934502
intronic
121152830
A T
forward
DBSNP:rs7649661
intronic
121153158
C T
forward
DBSNP:rs7639665
intronic
121157068
A G
forward
DBSNP:rs4303901
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
121159282
C G
forward
DBSNP:rs6785050
intronic
121159570
A C
forward
DBSNP:rs13319825
intronic
121161285
C G
forward
DBSNP:rs7636600
intronic
121161354
C T
forward
DBSNP:rs13082493
intronic
121161492
A G
forward
DBSNP:rs1381841
intronic
121161515
A G
forward
DBSNP:rs12634476
intronic
121161677
C T
forward
DBSNP:rs1381842
intronic
121162043
A T
forward
DBSNP:rs9814544
intronic
121163432
A T
forward
DBSNP:rs6774210
intronic
121165161
A C
forward
DBSNP:rs12695394
intronic
121165451
C T
forward
DBSNP:rs4688047
intronic
121165655
C G
forward
DBSNP:rs7373742
intronic
121167097
A C
forward
DBSNP:rs6769435
intronic
121167517
C T
forward
DBSNP:rs12638973
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
121168028
C T
forward
DBSNP:rs9875981
intronic
121168167
A G
forward
DBSNP:rs17810302
intronic
121171370
C T
forward
DBSNP:rs6772172
intronic
121172278
C T
forward
DBSNP:rs6762640
intronic
121172742
A T
forward
DBSNP:rs6778427
intronic
121173408
A T
forward
DBSNP:rs6790605
intronic
121173857
C T
forward
DBSNP:rs10934503
intronic
121174078
C T
forward
DBSNP:rs7643875
intronic
121174301
G T
forward
DBSNP:rs7644234
intronic
121174402
C T
forward
DBSNP:rs7611736
intronic
121174427
C T
forward
DBSNP:rs6438554
intronic
121175050
A G
forward
DBSNP:rs6778773
intronic
121175707
C T
forward
DBSNP:rs12630986
intronic
121175930
C G
forward
DBSNP:rs10433404
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
121178262
G T
forward
DBSNP:rs13078305
intronic
121178301
A C
forward
DBSNP:rs13098401
intronic
121179399
C T
forward
DBSNP:rs17204542
intronic
121179744
A G
forward
DBSNP:rs6795874
intronic
121180916
C T
forward
DBSNP:rs11921053
intronic
121181026
C T
forward
DBSNP:rs7621468
intronic
121183633
A C
forward
DBSNP:rs6798578
intronic
121185933
A C
forward
DBSNP:rs13314139
intronic
121186043
G T
forward
DBSNP:rs13324943
intronic
121186046
A G
forward
DBSNP:rs13321279
intronic
121186076
A T
forward
DBSNP:rs13060903
intronic
121186093
A G
forward
DBSNP:rs13314199
intronic
121186420
C T
forward
DBSNP:rs2319402
intronic
121187042
C T
forward
DBSNP:rs12635349
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
121190308
C T
forward
DBSNP:rs11915717
intronic
121190659
A G
forward
DBSNP:rs6774081
intronic
121191611
A G
forward
DBSNP:rs9825537
intronic
121191994
C T
forward
DBSNP:rs7635604
intronic
121193374
C T
forward
DBSNP:rs6781564
intronic
121193380
C T
forward
DBSNP:rs1037974
intronic
121194781
G T
forward
DBSNP:rs922336
intronic
121194817
C T
forward
DBSNP:rs9861481
intronic
121195411
A G
forward
DBSNP:rs9879992
intronic
121195565
A T
forward
DBSNP:rs9866394
intronic
121196312
C G
forward
DBSNP:rs6773730
intronic
121196645
C T
forward
DBSNP:rs9871925
intronic
121196808
C T
forward
DBSNP:rs9852118
intronic
121197003
A T
forward
DBSNP:rs13087970
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
121197192
A G
forward
DBSNP:rs7645180
intronic
121199432
C G
forward
DBSNP:rs6784239
intronic
121201559
C T
forward
DBSNP:rs13325281
intronic
121201990
A G
forward
DBSNP:rs12107508
intronic
121202493
A G
forward
DBSNP:rs13314836
intronic
121202554
C T
forward
DBSNP:rs13322562
intronic
121202647
A G
forward
DBSNP:rs13322654
intronic
121203861
C T
forward
DBSNP:rs12108149
intronic
121204267
C T
forward
DBSNP:rs13323804
intronic
121204788
C G
forward
DBSNP:rs13324628
intronic
121205366
G T
forward
DBSNP:rs9812146
intronic
121205367
A T
forward
DBSNP:rs9812149
intronic
121205538
A G
forward
DBSNP:rs9867915
intronic
121207420
A C
forward
DBSNP:rs6768905
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
121207706
A G
forward
DBSNP:rs7374133
intronic
121207843
A G
forward
DBSNP:rs11915898
intronic
121208018
C G
forward
DBSNP:rs6796550
intronic
121208157
C T
forward
DBSNP:rs6796719
intronic
121208587
A C
forward
DBSNP:rs12636170
intronic
121209823
A G
forward
DBSNP:rs13324392
intronic
121212252
C T
forward
DBSNP:rs9876369
intronic
121212346
C T
forward
DBSNP:rs6774693
intronic
121215007
A C
forward
DBSNP:rs9854117
intronic
121216354
A G
forward
DBSNP:rs17204605
intronic
121216400
C T
forward
DBSNP:rs4688054
intronic
121217216
A C
forward
DBSNP:rs13079731
intronic
121217297
A G
forward
DBSNP:rs9865193
intronic
121219284
C T
forward
DBSNP:rs1154595
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
121219523
A G
forward
DBSNP:rs1154597
intronic
121219786
A G
forward
DBSNP:rs6770662
intronic
121220812
A T
forward
DBSNP:rs9857548
intronic
121221987
C T
forward
DBSNP:rs9289138
intronic
121222770
C T
forward
DBSNP:rs6780850
intronic
121223268
C T
forward
DBSNP:rs1903764
intronic
121223630
C T
forward
DBSNP:rs7613197
intronic
121224468
A C
forward
DBSNP:rs13090721
intronic
121225411
A G
forward
DBSNP:rs6770314
intronic
121225712
A T
forward
DBSNP:rs7432111
intronic
121225812
A G
forward
DBSNP:rs1903765
intronic
121228331
A G
forward
DBSNP:rs13082848
intronic
121228346
A C
forward
DBSNP:rs13082685
intronic
121229259
C T
forward
DBSNP:rs11923854
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
121230093
C G
reverse
DBSNP:rs922337
intronic
121232101
A G
forward
DBSNP:rs9851174
intronic
121232460
C T
forward
DBSNP:rs12635018
intronic
121232836
A G
forward
DBSNP:rs10433339
intronic
121233326
C T
forward
DBSNP:rs6797689
intronic
121234077
A G
forward
DBSNP:rs7628426
intronic
121235218
G T
reverse
DBSNP:rs2873968
intronic
121235552
C G
forward
DBSNP:rs13325505
intronic
121235577
A T
forward
DBSNP:rs6764558
intronic
121236014
A T
forward
DBSNP:rs6802301
intronic
121236093
A G
forward
DBSNP:rs9834346
intronic
121236510
C T
reverse
DBSNP:rs2126583
intronic
121238860
A G
forward
DBSNP:rs12630829
intronic
121239637
C T
forward
DBSNP:rs10934504
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
121239909
A C
forward
DBSNP:rs11717317
intronic
121240677
C T
forward
DBSNP:rs6806055
intronic
121240739
A G
forward
DBSNP:rs6781942
intronic
121241486
C T
forward
DBSNP:rs7650554
intronic
121241587
C G
forward
DBSNP:rs11719490
intronic
121241839
C T
forward
DBSNP:rs6809657
intronic
121241863
A G
forward
DBSNP:rs4687890
intronic
121242858
C T
forward
DBSNP:rs16830683
intronic
121245534
C T
forward
DBSNP:rs6438555
intronic
121246297
A C
forward
DBSNP:rs9859778
intronic
121246776
C T
forward
DBSNP:rs7652172
intronic
121249746
A T
forward
DBSNP:rs11923196
intronic
121250012
A T
forward
DBSNP:rs10934505
intronic
121250383
A T
forward
DBSNP:rs12489805
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
121253207
A G
forward
DBSNP:rs12632108
intronic
121253342
C T
forward
DBSNP:rs10934506
intronic
121253350
A T
forward
DBSNP:rs10934507
intronic
121253639
A T
forward
DBSNP:rs13088778
intronic
121253961
C G
forward
DBSNP:rs16830689
intronic
121255483
A G
forward
DBSNP:rs9842542
intronic
121255730
C T
reverse
DBSNP:rs968824
intronic
121257548
A G
forward
DBSNP:rs13080945
intronic
121257837
C T
forward
DBSNP:rs6779828
intronic
121257867
C T
forward
DBSNP:rs4687891
intronic
121258118
C T
forward
DBSNP:rs4687892
intronic
121258204
A T
forward
DBSNP:rs4687893
intronic
121258687
A G
forward
DBSNP:rs4688056
intronic
121258688
A G
forward
DBSNP:rs4688057
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
121259570
G T
forward
DBSNP:rs17204878
intronic
121261074
A C
forward
DBSNP:rs9882935
intronic
121261179
A G
reverse
DBSNP:rs2199503
intronic
121263239
C T
forward
DBSNP:rs17810676
intronic
121265038
C T
forward
DBSNP:rs9866536
intronic
121265160
C T
reverse
DBSNP:rs334560
intronic
121267235
C T
forward
DBSNP:rs9822126
intronic
121267436
C T
forward
DBSNP:rs6805931
intronic
121267464
A G
forward
DBSNP:rs9840111
intronic
121267686
G T
reverse
DBSNP:rs334561
intronic
121269407
A G
reverse
DBSNP:rs334562
intronic
121269577
G T
reverse
DBSNP:rs334563
intronic
121269663
C T
forward
DBSNP:rs10934508
intronic
121269712
C T
reverse
DBSNP:rs334564
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
121270683
A G
reverse
DBSNP:rs334566
intronic
121272884
A G
reverse
DBSNP:rs182839
intronic
121273402
G T
reverse
DBSNP:rs334536
intronic
121274994
A G
reverse
DBSNP:rs334535
intronic
121275164
A G
forward
DBSNP:rs17205095
intronic
121275299
A G
reverse
DBSNP:rs334534
intronic
121275377
A C
forward