Hedgehog Signaling Pathway Database
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Hh Pathway
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Human Mutations -
Lrp2
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
N > S
83
N
DBSNP:rs6716834
H > Q
1083
N
DBSNP:rs2302691
A > P
1287
N
SWISS:VAR_005421
V > G
1942
N
DBSNP:rs13391626
R > K
2012
N
DBSNP:rs4667596
I > T
2065
N
DBSNP:rs2228168
A > T
2872
N
DBSNP:rs4668123
R > M
3011
N
DBSNP:rs11674973
R > H
3305
N
DBSNP:rs3213760
R > Q
3765
N
DBSNP:rs9646779
K > E
4094
N
DBSNP:rs2075252
I > L
4210
N
SWISS:VAR_005424
I > L
4210
N
DBSNP:rs4667591
A > A
21
S
DBSNP:rs1559014
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 > V
675
S
DBSNP:rs830994
T > T
820
S
DBSNP:rs2241190
T > T
1018
S
DBSNP:rs2075249
T > T
1023
S
DBSNP:rs831043
A > A
1220
S
DBSNP:rs831042
C > C
1625
S
DBSNP:rs11893040
S > S
1700
S
DBSNP:rs2302694
R > R
1953
S
DBSNP:rs11886219
V > V
2270
S
DBSNP:rs2228170
R > R
2542
S
DBSNP:rs13397109
Q > Q
3501
S
DBSNP:rs13400618
N > N
3782
S
DBSNP:rs7598640
I > I
4371
S
DBSNP:rs990626
H > H
4385
S
DBSNP:rs16856476
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
169813181
C T
forward
DBSNP:rs7598209
intronic
169813878
A T
reverse
DBSNP:rs1003456
intronic
169815128
C T
forward
DBSNP:rs6754932
intronic
169815518
G T
forward
DBSNP:rs12476376
intronic
169815829
C T
forward
DBSNP:rs11691854
intronic
169816571
A G
forward
DBSNP:rs7576280
intronic
169816610
C G
forward
DBSNP:rs11693676
intronic
169816973
A G
forward
DBSNP:rs11892075
intronic
169818149
C T
forward
DBSNP:rs12373565
intronic
169818245
G T
forward
DBSNP:rs7424748
intronic
169818569
G T
forward
DBSNP:rs11674531
intronic
169820486
A T
forward
DBSNP:rs13003267
intronic
169820487
A G
forward
DBSNP:rs13003777
intronic
169820529
C T
forward
DBSNP:rs6741849
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
169822063
C G
forward
DBSNP:rs6746604
intronic
169822161
A G
reverse
DBSNP:rs990627
intronic
169822906
C T
reverse
DBSNP:rs2268380
intronic
169823128
C T
reverse
DBSNP:rs2268379
intronic
169823383
C T
reverse
DBSNP:rs2268378
intronic
169823876
A G
forward
DBSNP:rs6725805
intronic
169823914
A G
forward
DBSNP:rs16856488
intronic
169824313
C T
reverse
DBSNP:rs2075253
intronic
169825146
A C
forward
DBSNP:rs12988055
intronic
169825180
A G
forward
DBSNP:rs6733111
intronic
169825222
A G
forward
DBSNP:rs6733122
intronic
169826029
G T
reverse
DBSNP:rs2284681
intronic
169826255
G T
reverse
DBSNP:rs2284680
intronic
169826817
A G
forward
DBSNP:rs4668122
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
169827445
A G
reverse
DBSNP:rs2239591
intronic
169827568
A T
reverse
DBSNP:rs2239590
intronic
169827590
A C
reverse
DBSNP:rs2239589
intronic
169829145
A G
forward
DBSNP:rs4667592
intronic
169829904
A C
forward
DBSNP:rs6757391
intronic
169830012
A G
forward
DBSNP:rs12617198
intronic
169830279
A G
forward
DBSNP:rs13407803
intronic
169830596
A G
forward
DBSNP:rs6761244
intronic
169830840
A G
forward
DBSNP:rs4625869
intronic
169830991
A C
forward
DBSNP:rs1123904
intronic
169830998
C T
forward
DBSNP:rs1123905
intronic
169831604
A G
forward
DBSNP:rs12692892
intronic
169831631
A T
forward
DBSNP:rs13386120
intronic
169831801
C T
forward
DBSNP:rs10192078
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
169832447
G T
reverse
DBSNP:rs755631
intronic
169833157
G T
reverse
DBSNP:rs1006738
intronic
169833393
A G
forward
DBSNP:rs10198527
intronic
169833729
G T
reverse
DBSNP:rs3944004
intronic
169833893
A G
forward
DBSNP:rs4667593
intronic
169834013
A T
forward
DBSNP:rs4667594
intronic
169834151
A G
forward
DBSNP:rs11679947
intronic
169834228
A T
forward
DBSNP:rs10177799
intronic
169834468
G T
reverse
DBSNP:rs10490132
intronic
169835256
C T
forward
DBSNP:rs9967871
intronic
169836079
A T
forward
DBSNP:rs11886411
intronic
169836338
C T
forward
DBSNP:rs10190601
intronic
169836915
C G
forward
DBSNP:rs10191176
intronic
169836965
A T
reverse
DBSNP:rs2075251
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
169837959
C T
reverse
DBSNP:rs3815573
intronic
169839739
G T
forward
DBSNP:rs3732041
intronic
169839974
A T
forward
DBSNP:rs10930346
intronic
169840080
C T
forward
DBSNP:rs11900169
intronic
169840082
C T
forward
DBSNP:rs11900170
intronic
169840148
G T
forward
DBSNP:rs11901315
intronic
169840845
G T
forward
DBSNP:rs13021137
intronic
169840874
A C
forward
DBSNP:rs12692893
intronic
169842257
A G
forward
DBSNP:rs6759013
intronic
169842381
C T
forward
DBSNP:rs6730825
intronic
169842601
C T
forward
DBSNP:rs13011165
intronic
169842627
A G
forward
DBSNP:rs13034796
intronic
169842707
A C
forward
DBSNP:rs12692894
intronic
169843283
G T
reverse
DBSNP:rs2268377
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
169843370
A G
forward
DBSNP:rs9646777
intronic
169843615
C T
forward
DBSNP:rs9646778
intronic
169844145
G T
forward
DBSNP:rs3821124
intronic
169846251
C T
reverse
DBSNP:rs2268375
intronic
169846288
C T
forward
DBSNP:rs11902300
intronic
169846364
A C
reverse
DBSNP:rs2268374
intronic
169847806
C T
forward
DBSNP:rs11888479
intronic
169848825
A G
forward
DBSNP:rs11884342
intronic
169849794
A T
forward
DBSNP:rs11896574
intronic
169850847
A G
reverse
DBSNP:rs2239602
intronic
169851025
C T
reverse
DBSNP:rs2239601
intronic
169852103
A G
reverse
DBSNP:rs4140872
intronic
169852274
A T
forward
DBSNP:rs7559094
intronic
169852459
A C
forward
DBSNP:rs12476396
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
169853531
A G
forward
DBSNP:rs4497843
intronic
169856328
A G
reverse
DBSNP:rs2075250
intronic
169856424
G T
reverse
DBSNP:rs2024481
intronic
169858768
A G
forward
DBSNP:rs13022760
intronic
169858774
A C
forward
DBSNP:rs13022769
intronic
169858775
A T
forward
DBSNP:rs12999602
intronic
169858794
C T
forward
DBSNP:rs13023093
intronic
169859216
A G
reverse
DBSNP:rs2193196
intronic
169859502
C T
forward
DBSNP:rs7565788
intronic
169860367
C T
forward
DBSNP:rs13421129
intronic
169860498
A G
forward
DBSNP:rs741378
intronic
169861535
C T
forward
DBSNP:rs10191692
intronic
169861677
C T
forward
DBSNP:rs7421492
intronic
169861773
A G
reverse
DBSNP:rs2892803
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
169862577
C T
forward
DBSNP:rs9789747
intronic
169862610
C T
forward
DBSNP:rs9287910
intronic
169862794
A G
forward
DBSNP:rs13415505
intronic
169862801
A T
forward
DBSNP:rs9287911
intronic
169863805
A T
forward
DBSNP:rs6744473
intronic
169864126
G T
forward
DBSNP:rs11900233
intronic
169864542
A C
reverse
DBSNP:rs3213759
intronic
169865101
C T
forward
DBSNP:rs10169879
intronic
169865274
C T
forward
DBSNP:rs10204688
intronic
169865795
C T
forward
DBSNP:rs7588584
intronic
169865834
C T
reverse
DBSNP:rs2024480
intronic
169866327
A G
reverse
DBSNP:rs2284679
intronic
169866806
A G
forward
DBSNP:rs6744155
intronic
169866848
A G
forward
DBSNP:rs6715374
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
169866901
C T
reverse
DBSNP:rs2284676
intronic
169867100
C G
forward
DBSNP:rs4287730
intronic
169867202
C T
forward
DBSNP:rs6747214
intronic
169868416
C T
forward
DBSNP:rs12478774
intronic
169868964
C T
forward
DBSNP:rs17212440
intronic
169870708
C T
forward
DBSNP:rs13424971
intronic
169871291
C T
forward
DBSNP:rs4667595
intronic
169871419
C T
forward
DBSNP:rs12466068
intronic
169872160
A G
forward
DBSNP:rs16856558
intronic
169872357
C T
forward
DBSNP:rs10210408
intronic
169872529
A G
reverse
DBSNP:rs1548936
intronic
169872727
A G
reverse
DBSNP:rs1972589
intronic
169873333
A G
forward
DBSNP:rs7565822
intronic
169873345
A G
forward
DBSNP:rs7592045
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
169873442
A C
forward
DBSNP:rs7592152
intronic
169874363
C T
forward
DBSNP:rs16856573
intronic
169874392
A C
forward
DBSNP:rs4331469
intronic
169874436
C T
reverse
DBSNP:rs2389589
intronic
169874772
A T
forward
DBSNP:rs3770604
intronic
169874829
C T
forward
DBSNP:rs13388593
intronic
169875111
C T
forward
DBSNP:rs3821125
intronic
169875979
A G
reverse
DBSNP:rs2075248
intronic
169876281
C T
forward
DBSNP:rs11886626
intronic
169876408
A G
reverse
DBSNP:rs2075247
intronic
169876674
C T
reverse
DBSNP:rs10490131
intronic
169876859
A G
forward
DBSNP:rs12105819
intronic
169877129
C T
forward
DBSNP:rs7557964
intronic
169877566
A C
reverse
DBSNP:rs1972588
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
169879087
A G
reverse
DBSNP:rs2302696
intronic
169879590
C G
forward
DBSNP:rs10169232
intronic
169879655
A C
forward
DBSNP:rs16856592
intronic
169879687
A G
forward
DBSNP:rs16856593
intronic
169879719
G T
forward
DBSNP:rs16856594
intronic
169879749
A G
forward
DBSNP:rs16856596
intronic
169880762
C T
forward
DBSNP:rs16823023
intronic
169880939
A G
forward
DBSNP:rs11898106
intronic
169881179
C T
forward
DBSNP:rs16823028
intronic
169883229
G T
forward
DBSNP:rs11687903
intronic
169883342
A G
forward
DBSNP:rs13401581
intronic
169884004
A G
forward
DBSNP:rs16856600
intronic
169884118
A C
forward
DBSNP:rs13030285
intronic
169884120
A C
forward
DBSNP:rs13030290
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
169884359
A G
reverse
DBSNP:rs2239600
intronic
169884466
C T
reverse
DBSNP:rs2284675
intronic
169884697
A G
reverse
DBSNP:rs2239599
intronic
169885044
A G
forward
DBSNP:rs6709670
intronic
169886973
C T
forward
DBSNP:rs6725137
intronic
169887332
A T
forward
DBSNP:rs13410285
intronic
169888223
C T
reverse
DBSNP:rs1548935
intronic
169888225
G T
reverse
DBSNP:rs1548934
intronic
169889290
C T
forward
DBSNP:rs13417389
intronic
169890006
C G
reverse
DBSNP:rs2268373
intronic
169890091
A T
reverse
DBSNP:rs2268372
intronic
169890641
C T
forward
DBSNP:rs10200740
intronic
169890694
A G
forward
DBSNP:rs7563506
intronic
169890763
C T
forward
DBSNP:rs10200859
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
169892209
A G
forward
DBSNP:rs10170902
intronic
169892484
A C
forward
DBSNP:rs4668124
intronic
169893249
C G
reverse
DBSNP:rs4001547
intronic
169893454
C G
forward
DBSNP:rs11689553
intronic
169894535
A G
forward
DBSNP:rs10201691
intronic
169894718
G T
forward
DBSNP:rs13422498
intronic
169894890
C T
forward
DBSNP:rs10201911
intronic
169895406
C T
forward
DBSNP:rs6718884
intronic
169896046
C G
reverse
DBSNP:rs2302695
intronic
169896578
A T
reverse
DBSNP:rs2052298
intronic
169896673
A G
reverse
DBSNP:rs2052297
intronic
169896774
C T
forward
DBSNP:rs10190812
intronic
169897282
G T
reverse
DBSNP:rs2052296
intronic
169897646
C T
forward
DBSNP:rs11897009
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
169897782
A T
forward
DBSNP:rs11886185
intronic
169898022
A C
forward
DBSNP:rs11886318
intronic
169898580
C T
forward
DBSNP:rs13417486
intronic
169898594
C T
forward
DBSNP:rs13431061
intronic
169898868
C T
forward
DBSNP:rs7600336
intronic
169899040
A C
forward
DBSNP:rs6752222
intronic
169899080
C G
forward
DBSNP:rs16856618
intronic
169899412
G T
reverse
DBSNP:rs2300447
intronic
169899496
A G
reverse
DBSNP:rs2300446
intronic
169901531
A G
reverse
DBSNP:rs2193195
intronic
169901559
C T
reverse
DBSNP:rs2193194
intronic
169901588
C T
reverse
DBSNP:rs2193193
intronic
169901748
A G
reverse
DBSNP:rs2216239
intronic
169902672
A G
reverse
DBSNP:rs3815572
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
169903829
A T
forward
DBSNP:rs12615478
intronic
169903875
C T
forward
DBSNP:rs16856621
intronic
169904114
C T
forward
DBSNP:rs9283479
intronic
169904288
A G
forward
DBSNP:rs9646731
intronic
169904310
C T
forward
DBSNP:rs7569236
intronic
169904643
C T
forward
DBSNP:rs4606889
intronic
169904863
C G
forward
DBSNP:rs4302191
intronic
169904981
C T
forward
DBSNP:rs6719440
intronic
169905052
A T
forward
DBSNP:rs6747692
intronic
169905419
G T
reverse
DBSNP:rs2268369
intronic
169905711
A G
reverse
DBSNP:rs2268368
intronic
169905873
G T
reverse
DBSNP:rs2268367
intronic
169906031
A T
reverse
DBSNP:rs2268366
intronic
169906103
C T
forward
DBSNP:rs13389381
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
169906742
C T
forward
DBSNP:rs11902433
intronic
169907520
C T
reverse
DBSNP:rs2075246
intronic
169907607
G T
forward
DBSNP:rs16856638
intronic
169907720
C T
forward
DBSNP:rs16856642
intronic
169907865
G T
forward
DBSNP:rs13393740
intronic
169908029
C T
reverse
DBSNP:rs982810
intronic
169908280
A C
forward
DBSNP:rs13383183
intronic
169908288
A C
forward
DBSNP:rs13383187
intronic
169909284
A C
forward
DBSNP:rs6433109
intronic
169910047
A G
forward
DBSNP:rs11885863
intronic
169910471
C T
reverse
DBSNP:rs3915725
intronic
169911044
A G
reverse
DBSNP:rs2300445
intronic
169913335
A G
forward
DBSNP:rs9711313
intronic
169913341
A G
forward
DBSNP:rs7419248
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
169913400
A G
forward
DBSNP:rs4668127
intronic
169913553
A G
forward
DBSNP:rs4668128
intronic
169913984
A G
reverse
DBSNP:rs2302693
intronic
169913986
C T
forward
DBSNP:rs13415407
intronic
169914013
A G
reverse
DBSNP:rs2302692
intronic
169914130
A G
reverse
DBSNP:rs3926693
intronic
169914505
C T
forward
DBSNP:rs1816039
intronic
169914513
A G
forward
DBSNP:rs4667597
intronic
169914577
A G
forward
DBSNP:rs3821126
intronic
169914599
A G
forward
DBSNP:rs1362996
intronic
169914689
A G
forward
DBSNP:rs3821127
intronic
169914737
C T
forward
DBSNP:rs3821128
intronic
169914918
C T
forward
DBSNP:rs13008676
intronic
169914987
C T
reverse
DBSNP:rs2239598
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
169915174
G T
reverse
DBSNP:rs2239597
intronic
169915331
A G
reverse
DBSNP:rs2239596
intronic
169915358
C T
reverse
DBSNP:rs2239595
intronic
169915838
A G
reverse
DBSNP:rs2239594
intronic
169916145
A T
forward
DBSNP:rs6713797
intronic
169916409
A C
forward
DBSNP:rs6752778
intronic
169916555
G T
forward
DBSNP:rs6724600
intronic
169916813
A G
forward
DBSNP:rs13401167
intronic
169916910
A G
forward
DBSNP:rs4668129
intronic
169917261
A T
forward
DBSNP:rs13006149
intronic
169918162
A T
forward
DBSNP:rs12151603
intronic
169918803
A G
forward
DBSNP:rs12987817
intronic
169919676
A G
reverse
DBSNP:rs2268365
intronic
169920620
C T
forward
DBSNP:rs13027887
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
169922358
C T
reverse
DBSNP:rs2239593
intronic
169922709
A C
forward
DBSNP:rs12615180
intronic
169924142
A C
forward
DBSNP:rs3755164
intronic
169924618
G T
reverse
DBSNP:rs10490130
intronic
169924798
C T
forward
DBSNP:rs831040
intronic
169924953
G T
forward
DBSNP:rs831041
intronic
169925402
G T
reverse
DBSNP:rs2075255
intronic
169925406
C T
reverse
DBSNP:rs2075254
intronic
169926343
G T
forward
DBSNP:rs12613980
intronic
169928136
G T
forward
DBSNP:rs4668130
intronic
169928581
A G
forward
DBSNP:rs12615839
intronic
169929611
C T
forward
DBSNP:rs13027608
intronic
169929802
A T
forward
DBSNP:rs831044
intronic
169930445
A C
forward
DBSNP:rs16823029
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
169930800
A G
forward
DBSNP:rs831045
intronic
169930818
A G
forward
DBSNP:rs831046
intronic
169931053
A T
forward
DBSNP:rs831047
intronic
169931168
C T
forward
DBSNP:rs831048
intronic
169937452
C T
forward
DBSNP:rs830956
intronic
169937605
C T
forward
DBSNP:rs830957
intronic
169938541
G T
forward
DBSNP:rs830958
intronic
169938605
C T
forward
DBSNP:rs830959
intronic
169938903
C T
forward
DBSNP:rs830960
intronic
169939848
A C
forward
DBSNP:rs7594986
intronic
169940176
C T
forward
DBSNP:rs1421509
intronic
169941753
A C
forward
DBSNP:rs830981
intronic
169941997
A G
forward
DBSNP:rs830982
intronic
169942037
C G
forward
DBSNP:rs13025890
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
169943318
C T
forward
DBSNP:rs12988804
intronic
169943996
A G
forward
DBSNP:rs830984
intronic
169944226
A G
forward
DBSNP:rs830985
intronic
169944337
C G
forward
DBSNP:rs7423357
intronic
169944346
G T
forward
DBSNP:rs830986
intronic
169944361
C T
forward
DBSNP:rs830987
intronic
169944367
C T
forward
DBSNP:rs830988
intronic
169944799
C T
forward
DBSNP:rs1181073
intronic
169944864
A C
forward
DBSNP:rs13387618
intronic
169945120
C T
forward
DBSNP:rs13002323
intronic
169945351
A G
forward
DBSNP:rs830989
intronic
169945505
C T
forward
DBSNP:rs830990
intronic
169946249
C T
forward
DBSNP:rs830991
intronic
169947210
A C
forward
DBSNP:rs2544385
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
169947787
G T
forward
DBSNP:rs4530335
intronic
169947948
A G
forward
DBSNP:rs4667599
intronic
169948120
C T
forward
DBSNP:rs4613240
intronic
169948437
A T
forward
DBSNP:rs2544386
intronic
169948807
A G
forward
DBSNP:rs17214591
intronic
169948979
A G
forward
DBSNP:rs2673176
intronic
169949313
A G
forward
DBSNP:rs2544387
intronic
169949338
C T
forward
DBSNP:rs12993779
intronic
169949531
A G
forward
DBSNP:rs4000811
intronic
169949579
C G
reverse
DBSNP:rs4001546
intronic
169950576
A C
forward
DBSNP:rs12465748
intronic
169950631
C G
forward
DBSNP:rs12465815
intronic
169950922
G T
forward
DBSNP:rs10930347
intronic
169951179
A G
forward
DBSNP:rs10930348
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
169951987
A G
forward
DBSNP:rs12620668
intronic
169952351
C T
forward
DBSNP:rs6748227
intronic
169952487
A G
forward
DBSNP:rs6719945
intronic
169952488
C T
forward
DBSNP:rs6706284
intronic
169952495
C T
forward
DBSNP:rs6706290
intronic
169952498
A T
forward
DBSNP:rs6706292
intronic
169953844
A G
forward
DBSNP:rs830992
intronic
169954206
A T
forward
DBSNP:rs830993
intronic
169954923
A G
reverse
DBSNP:rs10515931
intronic
169955143
A G
forward
DBSNP:rs830995
intronic
169955367
C G
reverse
DBSNP:rs10515930
intronic
169955384
C G
reverse
DBSNP:rs10490129
intronic
169956049
G T
forward
DBSNP:rs830996
intronic
169957675
G T
forward
DBSNP:rs3770607
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
169957750
A G
forward
DBSNP:rs830997
intronic
169958188
C T
forward
DBSNP:rs16856731
intronic
169958593
A C
forward
DBSNP:rs830998
intronic
169958880
A G
forward
DBSNP:rs830999
intronic
169958977
C T
forward
DBSNP:rs831000
intronic
169959165
C T
forward
DBSNP:rs831001
intronic
169959259
C T
forward
DBSNP:rs831002
intronic
169959698
C G
forward
DBSNP:rs831003
intronic
169960115
G T
forward
DBSNP:rs3815678
intronic
169960442
A G
forward
DBSNP:rs2673179
intronic
169960446
C T
forward
DBSNP:rs2544372
intronic
169960722
C T
forward
DBSNP:rs7568568
intronic
169961249
C T
forward
DBSNP:rs831004
intronic
169961675
A T
forward
DBSNP:rs17280868
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
169962203
C G
forward
DBSNP:rs12998030
intronic
169962697
A G
forward
DBSNP:rs831005
intronic
169962998
C G
forward
DBSNP:rs831006
intronic
169964013
C T
forward
DBSNP:rs831007
intronic
169964403
C T
forward
DBSNP:rs831008
intronic
169964687
A G
forward
DBSNP:rs831009
intronic
169964853
C T
forward
DBSNP:rs831010
intronic
169965146
A G
forward
DBSNP:rs831011
intronic
169965369
C T
forward
DBSNP:rs831012
intronic
169965430
G T
forward
DBSNP:rs831013
intronic
169965840
G T
forward
DBSNP:rs831014
intronic
169966264
C T
forward
DBSNP:rs9287912
intronic
169966271
C T
forward
DBSNP:rs9287913
intronic
169966275
C T
forward
DBSNP:rs11900411
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
169967636
A C
forward
DBSNP:rs9653235
intronic
169967647
C T
forward
DBSNP:rs11896551
intronic
169967817
C G
forward
DBSNP:rs2673180
intronic
169968699
C G
forward
DBSNP:rs831016
intronic
169968786
A C
forward
DBSNP:rs3895005
intronic
169968833
G T
forward
DBSNP:rs3895006
intronic
169969001
A C
forward
DBSNP:rs3770611
intronic
169969281
A G
forward
DBSNP:rs3770612
intronic
169970295
A G
forward
DBSNP:rs10754970
intronic
169970780
C T
forward
DBSNP:rs2161039
intronic
169970810
A G
forward
DBSNP:rs16856745
intronic
169970933
A G
forward
DBSNP:rs831017
intronic
169971593
A G
forward
DBSNP:rs831018
intronic
169971919
A G
forward
DBSNP:rs16856748
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
169972420
C T
forward
DBSNP:rs3770613
intronic
169973230
A G
forward
DBSNP:rs831020
intronic
169974847
C T
forward
DBSNP:rs831021
intronic
169975120
C T
forward
DBSNP:rs831022
intronic
169975361
A C
forward
DBSNP:rs11887007
intronic
169976080
C G
reverse
DBSNP:rs2389588
intronic
169976761
A G
forward
DBSNP:rs13022918
intronic
169976861
A G
forward
DBSNP:rs2673173
intronic
169977015
A G
forward
DBSNP:rs12622741
intronic
169977037
C T
reverse
DBSNP:rs908269
intronic
169977193
A G
forward
DBSNP:rs13029271
intronic
169977253
A G
forward
DBSNP:rs16856759
intronic
169977261
G T
forward
DBSNP:rs13005742
intronic
169977793
A G
reverse
DBSNP:rs2673165
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
169978833
A T
forward
DBSNP:rs13396247
intronic
169979033
A G
reverse
DBSNP:rs2673164
intronic
169979181
A G
reverse
DBSNP:rs2673163
intronic
169979482
A G
forward
DBSNP:rs3770615
intronic
169979784
A G
reverse
DBSNP:rs2673162
intronic
169980169
G T
reverse
DBSNP:rs2222020
intronic
169980170
G T
reverse
DBSNP:rs2222019
intronic
169980754
A T
forward
DBSNP:rs9287914
intronic
169980756
A T
forward
DBSNP:rs2544373
intronic
169980829
A G
forward
DBSNP:rs2544374
intronic
169980944
A G
reverse
DBSNP:rs2244407
intronic
169981103
A G
forward
DBSNP:rs2390829
intronic
169981127
A G
forward
DBSNP:rs830961
intronic
169981140
A G
forward
DBSNP:rs4000804
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
169981176
A G
forward
DBSNP:rs830962
intronic
169981190
A G
forward
DBSNP:rs830963
intronic
169981538
C T
forward
DBSNP:rs3770616
intronic
169981713
A G
forward
DBSNP:rs7575260
intronic
169982387
C T
forward
DBSNP:rs830964
intronic
169982497
A T
forward
DBSNP:rs4667600
intronic
169982907
C T
reverse
DBSNP:rs3914468
intronic
169983066
A G
forward
DBSNP:rs830965
intronic
169983283
A G
forward
DBSNP:rs700549
intronic
169983463
A C
reverse
DBSNP:rs2892802
intronic
169983963
C T
forward
DBSNP:rs700550
intronic
169984495
C G
forward
DBSNP:rs830966
intronic
169984786
A T
forward
DBSNP:rs830967
intronic
169984820
C T
forward
DBSNP:rs830968
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
169985463
A G
forward
DBSNP:rs4347786
intronic
169985868
A C
forward
DBSNP:rs853988
intronic
169986591
A G
forward
DBSNP:rs10174058
intronic
169987007
C T
forward
DBSNP:rs830970
intronic
169987102
A G
forward
DBSNP:rs7600757
intronic
169987726
C G
forward
DBSNP:rs830971
intronic
169987907
A G
forward
DBSNP:rs830972
intronic
169988189
A G
forward
DBSNP:rs12622085
intronic
169988813
G T
forward
DBSNP:rs12997360
intronic
169989210
C T
forward
DBSNP:rs16856796
intronic
169989275
C T
forward
DBSNP:rs2247506
intronic
169989477
G T
forward
DBSNP:rs16856802
intronic
169989738
A C
forward
DBSNP:rs13403197
intronic
169989927
C G
reverse
DBSNP:rs2673170
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
169990809
C T
forward
DBSNP:rs6433112
intronic
169990941
A G
forward
DBSNP:rs13035447
intronic
169991933
C T
forward
DBSNP:rs13424066
intronic
169992015
A G
forward
DBSNP:rs13385160
intronic
169993087
C T
forward
DBSNP:rs13025823
intronic
169993088
A G
forward
DBSNP:rs12999891
intronic
169993094
A T
forward
DBSNP:rs13030894
intronic
169993127
C G
forward
DBSNP:rs13004583
intronic
169993133
A G
forward
DBSNP:rs13004992
intronic
169993210
C T
forward
DBSNP:rs13004829
intronic
169993280
G T
forward
DBSNP:rs13005288
intronic
169993553
C T
forward
DBSNP:rs12329346
intronic
169993750
C G
forward
DBSNP:rs12328973
intronic
169993948
A C
forward
DBSNP:rs6752012
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
169994551
A C
forward
DBSNP:rs6433114
intronic
169994777
A G
forward
DBSNP:rs7604111
intronic
169994885
A G
forward
DBSNP:rs13395784
intronic
169995049
A G
forward
DBSNP:rs11679761
intronic
169995925
A T
forward
DBSNP:rs10169533
intronic
169996007
A C
forward
DBSNP:rs4577254
intronic
169996255
A G
forward
DBSNP:rs3845730
intronic
169996265
A T
reverse
DBSNP:rs3856427
intronic
169996265
A T
forward
DBSNP:rs11883918
intronic
169996266
A T
reverse
DBSNP:rs3914469
intronic
169996488
A G
forward
DBSNP:rs10165679
intronic
169996635
C T
forward
DBSNP:rs2544376
intronic
169996706
A G
forward
DBSNP:rs3770621
intronic
169997008
A G
forward
DBSNP:rs2544377
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
169997727
C T
forward
DBSNP:rs12996849
intronic
169997760
C T
forward
DBSNP:rs12996875
intronic
169997876
C G
reverse
DBSNP:rs2673167
intronic
169997888
C T
forward
DBSNP:rs2544378
intronic
169997901
A G
forward
DBSNP:rs2544379
intronic
169998002
A C
forward
DBSNP:rs12997311
intronic
169998624
G T
forward
DBSNP:rs2544380
intronic
169998671
C G
forward
DBSNP:rs2544381
intronic
169998974
C T
forward
DBSNP:rs2544382
intronic
169999000
A G
forward
DBSNP:rs10173013
intronic
169999847
A C
forward
DBSNP:rs10221870
intronic
169999891
C T
forward
DBSNP:rs13420374
intronic
169999906
A C
forward
DBSNP:rs10221642
intronic
170000112
A T
forward
DBSNP:rs2544383
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
170000616
C T
forward
DBSNP:rs861239
intronic
170001037
C T
forward
DBSNP:rs13386674
intronic
170001562
C T
forward
DBSNP:rs830974
intronic
170002215
A C
forward
DBSNP:rs830975
intronic
170002575
A G
forward
DBSNP:rs6709523
intronic
170002769
C T
forward
DBSNP:rs11903888
intronic
170005070
A G
reverse
DBSNP:rs830976
intronic
170005159
C G
reverse
DBSNP:rs830977
intronic
170005283
G T
forward
DBSNP:rs830978
intronic
170005413
A G
forward
DBSNP:rs10930351
intronic
170005722
A G
forward
DBSNP:rs830979
intronic
170006773
C T
reverse
DBSNP:rs2673178
intronic
170006812
C T
reverse
DBSNP:rs2673177
intronic
170007171
A C
forward
DBSNP:rs830980
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
170009434
A G
forward
DBSNP:rs7593519
intronic
170009442
C T
forward
DBSNP:rs7567075
intronic
170009460
A G
forward
DBSNP:rs7593536
intronic
170009466
A C
forward
DBSNP:rs7593537
intronic
170009491
C T
forward
DBSNP:rs7581268
intronic
170010226
C G
forward
DBSNP:rs7421121
intronic
170010267
C G
reverse
DBSNP:rs3887613
intronic
170010316
C G
forward
DBSNP:rs4514847
intronic
170010321
A G
forward
DBSNP:rs9710881
intronic
170010331
G T
reverse
DBSNP:rs3887612
intronic
170010397
C T
forward
DBSNP:rs12104648
intronic
170010453
G T
reverse
DBSNP:rs1807413
intronic
170010470
A G
forward
DBSNP:rs12105427
intronic
170010956
G T
forward
DBSNP:rs831023
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
170012571
A C
reverse
DBSNP:rs700551
intronic
170012612
C T
reverse
DBSNP:rs3845731
intronic
170013472
A G
forward
DBSNP:rs11891222
intronic
170013477
C G
forward
DBSNP:rs11891223
intronic
170013502
C T
forward
DBSNP:rs12469097
intronic
170013737
C G
forward
DBSNP:rs3770628
intronic
170014731
G T
forward
DBSNP:rs13006076
intronic
170015404
A G
forward
DBSNP:rs12624226
intronic
170015460
A T
forward
DBSNP:rs12624237
intronic
170015570
A T
forward
DBSNP:rs831025
intronic
170016232
C T
forward
DBSNP:rs3770630
intronic
170016428
A G
forward
DBSNP:rs831026
intronic
170016472
C T
forward
DBSNP:rs6433115
intronic
170017710
C T
forward
DBSNP:rs831027
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
170018484
C G
forward
DBSNP:rs831029
intronic
170019318
C T
forward
DBSNP:rs831030
intronic
170019589
C T
reverse
DBSNP:rs831031
intronic
170020045
A G
forward
DBSNP:rs831032
intronic
170021453
C T
reverse
DBSNP:rs831033
intronic
170021944
C T
forward
DBSNP:rs831034
intronic
170022497
C T
forward
DBSNP:rs10930352
intronic
170022861
C G
forward
DBSNP:rs11889511
intronic
170023184
C T
forward
DBSNP:rs6751001
intronic
170024824
C T
forward
DBSNP:rs831035
intronic
170025959
A T
forward
DBSNP:rs16856823
intronic
170026946
C G
forward
DBSNP:rs831036
intronic
170027121
C T
forward
DBSNP:rs10175901
intronic
170027350
A G
forward
DBSNP:rs831037
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
170028312
C T
forward
DBSNP:rs831039
intronic
170028340
G T
forward
DBSNP:rs3770636
intronic
170028972
C T
forward
DBSNP:rs3755165
intronic
170029367
C T
forward
DBSNP:rs3729573
intronic
170030148
A G
forward
DBSNP:rs2673171
intronic
170030280
C T
forward
DBSNP:rs3821129
intronic
170030307
G T
forward
DBSNP:rs2673172
intronic
170030353
C T
forward
DBSNP:rs2544390
intronic
170030458
A C
forward
DBSNP:rs2544391
intronic
170030630
C T
forward
DBSNP:rs2390793
intronic
170030633
A T
forward
DBSNP:rs3770641
intronic
170030817
C T
forward
DBSNP:rs13405967
intronic
170030857
A G
forward
DBSNP:rs6730118
intronic
170030932
C T
forward
DBSNP:rs2544392
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
170032052
A G
reverse
DBSNP:rs2389558
intronic
170032137
C T
forward
DBSNP:rs13412458
intronic
170032279
A G
forward
DBSNP:rs13412741
intronic
170032552
A C
forward
DBSNP:rs4668135
intronic
170032921
A C
forward
DBSNP:rs2673154
intronic
170033145
A T
forward
DBSNP:rs13002515
intronic
170033227
C G
forward
DBSNP:rs13003297
intronic
170033403
C T
forward
DBSNP:rs6713072
intronic
170033542
A C
forward
DBSNP:rs1990842
intronic
170033590
A G
reverse
DBSNP:rs2892798
intronic
170033722
C T
forward
DBSNP:rs1362995
intronic
170033892
C T
forward
DBSNP:rs952638
intronic
170034175
A G
forward
DBSNP:rs12614394
intronic
170034208
C T
forward
DBSNP:rs10199321
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
170034482
G T
forward
DBSNP:rs10199676
intronic
170035075
A C
forward
DBSNP:rs2544394
intronic
170035108
A G
forward
DBSNP:rs16856840
intronic
170035170
C T
forward
DBSNP:rs2673151
intronic
170035343
C T
forward
DBSNP:rs2673152
intronic
170035571
C T
forward
DBSNP:rs13017888
intronic
170035587
C T
forward
DBSNP:rs2673153
intronic
170035596
A G
forward
DBSNP:rs13017872
intronic
170035602
A T
forward
DBSNP:rs13017879
intronic
170035784
C G
forward
DBSNP:rs6721930
intronic
170035872
C G
forward
DBSNP:rs3909274
intronic
170036223
A G
forward
DBSNP:rs16856842
intronic
170036730
A C
forward
DBSNP:rs830942
intronic
170036884
C T
reverse
DBSNP:rs2389557
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
170037059
A G
forward
DBSNP:rs830943
intronic
170037942
A C
forward
DBSNP:rs10192423
intronic
170037969
A G
forward
DBSNP:rs12995288
intronic
170038109
A G
forward
DBSNP:rs830944
intronic
170038646
C T
forward
DBSNP:rs830945
intronic
170038825
A G
forward
DBSNP:rs830946
intronic
170038923
C T
forward
DBSNP:rs10195737
intronic
170039212
C G
forward
DBSNP:rs10198558
intronic
170039950
A G
forward
DBSNP:rs830947
intronic
170040020
A G
forward
DBSNP:rs16856843
intronic
170040271
A G
forward
DBSNP:rs830948
intronic
170040752
A G
forward
DBSNP:rs830949
intronic
170040934
A G
forward
DBSNP:rs2673174
intronic
170041058
A C
forward
DBSNP:rs16856844
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
170041774
C T
forward
DBSNP:rs4668136
intronic
170042375
C T
forward
DBSNP:rs3845732
intronic
170043367
C G
forward
DBSNP:rs7582071
intronic
170043394
C T
forward
DBSNP:rs3770642
intronic
170043409
C G
forward
DBSNP:rs12986767
intronic
170043428
C G
forward
DBSNP:rs4668137
intronic
170044039
C T
forward
DBSNP:rs12692895
intronic
170044150
C T
forward
DBSNP:rs3815679
intronic
170044167
G T
forward
DBSNP:rs3815680
intronic
170044171
C G
forward
DBSNP:rs2161038
intronic
170044323
C T
forward
DBSNP:rs1559013
Last updated 28-Aug-2006
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