Hedgehog Signaling Pathway Database
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Human Mutations -
dyrk1a
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
Y > F
415
N
SWISS:VAR_009395
10329007
Q > H
681
N
SWISS:VAR_009396
10329007
intronic
37716173
C G
forward
DBSNP:rs2835730
intronic
37716173
C G
forward
DBSNP:rs2835730
intronic
37717143
C T
forward
DBSNP:rs2298329
intronic
37717143
C T
forward
DBSNP:rs2298329
intronic
37717432
C T
forward
DBSNP:rs1010265
intronic
37717432
C T
forward
DBSNP:rs1010265
intronic
37718598
C T
forward
DBSNP:rs2835731
intronic
37718598
C T
forward
DBSNP:rs2835731
intronic
37719033
A G
forward
DBSNP:rs16995086
intronic
37719346
A C
forward
DBSNP:rs9975364
intronic
37720060
A G
forward
DBSNP:rs16997965
intronic
37720373
A G
forward
DBSNP:rs16995088
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
37720953
G T
forward
DBSNP:rs5019114
intronic
37720953
G T
forward
DBSNP:rs5019114
intronic
37720969
G T
forward
DBSNP:rs6517415
intronic
37720969
G T
forward
DBSNP:rs6517415
intronic
37720993
G T
forward
DBSNP:rs7282224
intronic
37721056
C G
forward
DBSNP:rs7281430
intronic
37721073
A C
forward
DBSNP:rs7281087
intronic
37721108
A G
forward
DBSNP:rs13048677
intronic
37721161
A C
forward
DBSNP:rs13048394
intronic
37721690
A G
forward
DBSNP:rs11701469
intronic
37721709
A G
forward
DBSNP:rs2835732
intronic
37721709
A G
forward
DBSNP:rs2835732
intronic
37721907
C T
forward
DBSNP:rs16995099
intronic
37721949
A G
forward
DBSNP:rs9978910
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
37723175
A C
forward
DBSNP:rs11088394
intronic
37723226
C T
forward
DBSNP:rs10483037
intronic
37723246
A G
forward
DBSNP:rs2835733
intronic
37723246
A G
forward
DBSNP:rs2835733
intronic
37723293
C T
forward
DBSNP:rs2835734
intronic
37723293
C T
forward
DBSNP:rs2835734
intronic
37723839
C G
forward
DBSNP:rs11700427
intronic
37724539
C G
forward
DBSNP:rs17229339
intronic
37724686
A G
forward
DBSNP:rs2835735
intronic
37724686
A G
forward
DBSNP:rs2835735
intronic
37724743
C G
forward
DBSNP:rs2835736
intronic
37724743
C G
forward
DBSNP:rs2835736
intronic
37725211
A G
forward
DBSNP:rs12482401
intronic
37725212
A C
forward
DBSNP:rs12482362
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
37725297
C T
reverse
DBSNP:rs2068173
intronic
37725589
A G
forward
DBSNP:rs7279339
intronic
37725590
C T
forward
DBSNP:rs7279068
intronic
37725842
A G
forward
DBSNP:rs2835737
intronic
37725842
A G
forward
DBSNP:rs2835737
intronic
37726180
C T
forward
DBSNP:rs11701982
intronic
37726342
A G
forward
DBSNP:rs17814693
intronic
37726451
A G
forward
DBSNP:rs11701874
intronic
37726814
A G
forward
DBSNP:rs2835738
intronic
37726814
A G
forward
DBSNP:rs2835738
intronic
37727512
A G
forward
DBSNP:rs2835739
intronic
37727512
A G
forward
DBSNP:rs2835739
intronic
37727998
A G
forward
DBSNP:rs16995103
intronic
37728490
A G
forward
DBSNP:rs16995107
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
37728737
A T
forward
DBSNP:rs4640466
intronic
37728737
A T
forward
DBSNP:rs4640466
intronic
37728739
C T
forward
DBSNP:rs3958998
intronic
37728739
C T
forward
DBSNP:rs3958998
intronic
37728962
C T
forward
DBSNP:rs9979445
intronic
37730298
C G
forward
DBSNP:rs11702209
intronic
37730943
C T
forward
DBSNP:rs2835740
intronic
37730943
C T
forward
DBSNP:rs2835740
intronic
37731003
C G
forward
DBSNP:rs9974163
intronic
37731564
C T
forward
DBSNP:rs2835741
intronic
37731564
C T
forward
DBSNP:rs2835741
intronic
37732806
A G
forward
DBSNP:rs12710444
intronic
37733101
A G
forward
DBSNP:rs9974990
intronic
37734397
C T
forward
DBSNP:rs13051471
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
37735126
C T
forward
DBSNP:rs11702096
intronic
37735592
C G
forward
DBSNP:rs11702573
intronic
37735849
A G
forward
DBSNP:rs2835742
intronic
37735849
A G
forward
DBSNP:rs2835742
intronic
37736042
C T
forward
DBSNP:rs11702689
intronic
37736328
G T
forward
DBSNP:rs9680102
intronic
37736388
G T
forward
DBSNP:rs8129561
intronic
37736482
C T
forward
DBSNP:rs8132000
intronic
37736572
C T
forward
DBSNP:rs2835743
intronic
37736572
C T
forward
DBSNP:rs2835743
intronic
37737601
A T
forward
DBSNP:rs11088395
intronic
37737656
A G
forward
DBSNP:rs2835745
intronic
37737656
A G
forward
DBSNP:rs2835745
intronic
37737700
A G
forward
DBSNP:rs2835746
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
37737773
A T
forward
DBSNP:rs17458669
intronic
37738200
G T
forward
DBSNP:rs2835747
intronic
37738200
G T
forward
DBSNP:rs2835747
intronic
37738329
G T
forward
DBSNP:rs2835748
intronic
37738329
G T
forward
DBSNP:rs2835748
intronic
37739231
A G
forward
DBSNP:rs7283089
intronic
37739260
G T
forward
DBSNP:rs9982990
intronic
37739569
C T
forward
DBSNP:rs9974713
intronic
37739682
A G
forward
DBSNP:rs11700462
intronic
37740049
A C
forward
DBSNP:rs9974535
intronic
37740237
A G
forward
DBSNP:rs2835749
intronic
37740237
A G
forward
DBSNP:rs2835749
intronic
37740530
C T
forward
DBSNP:rs2835750
intronic
37740530
C T
forward
DBSNP:rs2835750
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
37741163
A C
forward
DBSNP:rs11701206
intronic
37741606
C T
forward
DBSNP:rs11908990
intronic
37742071
C T
forward
DBSNP:rs16995130
intronic
37742937
C T
forward
DBSNP:rs7276192
intronic
37743168
A G
forward
DBSNP:rs9978472
intronic
37743709
C G
forward
DBSNP:rs16995134
intronic
37743883
C T
forward
DBSNP:rs13048401
intronic
37744204
A C
forward
DBSNP:rs16997966
intronic
37744383
A G
forward
DBSNP:rs11088396
intronic
37744728
C T
forward
DBSNP:rs11911857
intronic
37745130
A G
forward
DBSNP:rs11702808
intronic
37745441
A G
forward
DBSNP:rs11088397
intronic
37745523
G T
forward
DBSNP:rs13049697
intronic
37746441
G T
forward
DBSNP:rs16995140
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
37746525
A G
forward
DBSNP:rs4817863
intronic
37746829
G T
forward
DBSNP:rs11088398
intronic
37747224
A C
forward
DBSNP:rs10854381
intronic
37747388
A T
forward
DBSNP:rs9981091
intronic
37747500
A G
forward
DBSNP:rs8133809
intronic
37748129
A G
forward
DBSNP:rs2835751
intronic
37748129
A G
forward
DBSNP:rs2835751
intronic
37748767
A T
forward
DBSNP:rs16995144
intronic
37748885
C T
forward
DBSNP:rs9975652
intronic
37749166
A G
forward
DBSNP:rs9975083
intronic
37749211
C T
forward
DBSNP:rs9975239
intronic
37749584
A T
forward
DBSNP:rs16997968
intronic
37749600
A G
forward
DBSNP:rs928764
intronic
37749600
A G
forward
DBSNP:rs928764
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
37749841
C T
forward
DBSNP:rs2835752
intronic
37750192
G T
forward
DBSNP:rs2835753
intronic
37750192
G T
forward
DBSNP:rs2835753
intronic
37750309
G T
forward
DBSNP:rs2835754
intronic
37750309
G T
forward
DBSNP:rs2835754
intronic
37750565
C T
forward
DBSNP:rs16995148
intronic
37750730
C G
forward
DBSNP:rs2835755
intronic
37750730
C G
forward
DBSNP:rs2835755
intronic
37751209
C T
forward
DBSNP:rs13048484
intronic
37751213
C T
forward
DBSNP:rs8133381
intronic
37751585
G T
forward
DBSNP:rs8128072
intronic
37754484
A G
forward
DBSNP:rs2835756
intronic
37754484
A G
forward
DBSNP:rs2835756
intronic
37754615
C T
forward
DBSNP:rs9977549
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
37755056
A G
forward
DBSNP:rs8134269
intronic
37755448
C T
forward
DBSNP:rs2835757
intronic
37755448
C T
forward
DBSNP:rs2835757
intronic
37755693
A G
forward
DBSNP:rs9980174
intronic
37755960
A G
forward
DBSNP:rs6517416
intronic
37755960
A G
forward
DBSNP:rs6517416
intronic
37756138
C T
forward
DBSNP:rs9636635
intronic
37756383
C T
forward
DBSNP:rs7281213
intronic
37757158
A G
forward
DBSNP:rs8127024
intronic
37757264
A G
forward
DBSNP:rs2186338
intronic
37757264
A G
forward
DBSNP:rs2186338
intronic
37757681
C T
forward
DBSNP:rs4817864
intronic
37757681
C T
forward
DBSNP:rs4817864
intronic
37759242
G T
forward
DBSNP:rs13046025
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
37760975
A T
forward
DBSNP:rs7279050
intronic
37762530
C T
forward
DBSNP:rs6517417
intronic
37762530
C T
forward
DBSNP:rs6517417
intronic
37762820
A T
forward
DBSNP:rs9981259
intronic
37763146
A G
forward
DBSNP:rs7281132
intronic
37763155
C T
forward
DBSNP:rs7281260
intronic
37763901
C G
forward
DBSNP:rs9984490
intronic
37764132
A G
forward
DBSNP:rs7277209
intronic
37764209
A G
forward
DBSNP:rs9984928
intronic
37764213
A G
forward
DBSNP:rs7277733
intronic
37765330
A G
forward
DBSNP:rs10470178
intronic
37765698
A G
forward
DBSNP:rs2835759
intronic
37765698
A G
forward
DBSNP:rs2835759
intronic
37765824
A G
forward
DBSNP:rs2835760
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
37765941
G T
forward
DBSNP:rs8130503
intronic
37765945
C T
forward
DBSNP:rs8129473
intronic
37766218
C T
forward
DBSNP:rs2835761
intronic
37766218
C T
forward
DBSNP:rs2835761
intronic
37766417
A G
forward
DBSNP:rs16995166
intronic
37766630
A T
forward
DBSNP:rs17229402
intronic
37766681
C T
forward
DBSNP:rs16995167
intronic
37767164
A G
forward
DBSNP:rs2898316
intronic
37767164
A G
forward
DBSNP:rs2898316
intronic
37767325
A G
forward
DBSNP:rs16995170
intronic
37767668
C T
forward
DBSNP:rs2835762
intronic
37767668
C T
forward
DBSNP:rs2835762
intronic
37768696
C T
forward
DBSNP:rs16995172
intronic
37769687
A T
forward
DBSNP:rs2026264
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
37770004
G T
forward
DBSNP:rs8132830
intronic
37770280
A C
forward
DBSNP:rs16995173
intronic
37771364
C T
forward
DBSNP:rs9984646
intronic
37771610
C T
forward
DBSNP:rs2835763
intronic
37771610
C T
forward
DBSNP:rs2835763
intronic
37771712
A G
forward
DBSNP:rs8132789
intronic
37772510
A G
forward
DBSNP:rs928763
intronic
37772510
A G
forward
DBSNP:rs928763
intronic
37772629
A G
forward
DBSNP:rs10211972
intronic
37772938
A C
forward
DBSNP:rs17814746
intronic
37773747
A G
forward
DBSNP:rs7364101
intronic
37773791
G T
forward
DBSNP:rs9305618
intronic
37774231
A G
forward
DBSNP:rs2248244
intronic
37774231
A G
forward
DBSNP:rs2248244
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
37774598
A G
forward
DBSNP:rs2298330
intronic
37775320
C T
forward
DBSNP:rs16995190
intronic
37775459
A C
forward
DBSNP:rs11701810
intronic
37776214
C T
forward
DBSNP:rs2835764
intronic
37776214
C T
forward
DBSNP:rs2835764
intronic
37776310
C G
forward
DBSNP:rs11911681
intronic
37776442
A G
forward
DBSNP:rs6517418
intronic
37776442
A G
forward
DBSNP:rs6517418
intronic
37776720
A G
forward
DBSNP:rs2409895
intronic
37776720
A G
forward
DBSNP:rs2409895
intronic
37776731
C G
forward
DBSNP:rs9975263
intronic
37777259
A C
forward
DBSNP:rs6517419
intronic
37777259
A C
forward
DBSNP:rs6517419
intronic
37777532
A G
forward
DBSNP:rs16995197
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
37778720
C T
forward
DBSNP:rs9981552
intronic
37779449
A G
forward
DBSNP:rs2835765
intronic
37779449
A G
forward
DBSNP:rs2835765
intronic
37779471
C G
forward
DBSNP:rs16995199
intronic
37779774
A T
forward
DBSNP:rs2835766
intronic
37779774
A T
forward
DBSNP:rs2835766
intronic
37780045
C G
forward
DBSNP:rs2835767
intronic
37780045
C G
forward
DBSNP:rs2835767
intronic
37781297
C T
forward
DBSNP:rs1024294
intronic
37781297
C T
forward
DBSNP:rs1024294
intronic
37781736
C T
forward
DBSNP:rs16995205
intronic
37782010
C T
forward
DBSNP:rs2835768
intronic
37782010
C T
forward
DBSNP:rs2835768
intronic
37782048
C T
forward
DBSNP:rs2835769
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
37782391
A C
forward
DBSNP:rs2835770
intronic
37782391
A C
forward
DBSNP:rs2835770
intronic
37783703
C T
forward
DBSNP:rs2835771
intronic
37783703
C T
forward
DBSNP:rs2835771
intronic
37784243
A T
forward
DBSNP:rs4817865
intronic
37784243
A T
forward
DBSNP:rs4817865
intronic
37784246
A G
forward
DBSNP:rs4817866
intronic
37784246
A G
forward
DBSNP:rs4817866
intronic
37784970
A G
forward
DBSNP:rs16995210
intronic
37787377
C G
forward
DBSNP:rs2835772
intronic
37787377
C G
forward
DBSNP:rs2835772
intronic
37787834
A G
forward
DBSNP:rs2835773
intronic
37787834
A G
forward
DBSNP:rs2835773
intronic
37789981
A T
forward
DBSNP:rs8134408
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
37791586
C T
forward
DBSNP:rs2211840
intronic
37793155
A G
forward
DBSNP:rs2154545
intronic
37793155
A G
forward
DBSNP:rs2154545
intronic
37793400
G T
forward
DBSNP:rs13373170
intronic
37794921
A C
forward
DBSNP:rs8132976
intronic
37795224
A G
forward
DBSNP:rs7282670
intronic
37795304
C T
forward
DBSNP:rs13372685
intronic
37795842
G T
forward
DBSNP:rs9980200
intronic
37796117
C T
forward
DBSNP:rs2860151
intronic
37796117
C T
forward
DBSNP:rs2860151
intronic
37796418
A G
forward
DBSNP:rs11910554
intronic
37797102
A T
forward
DBSNP:rs2835774
intronic
37797102
A T
forward
DBSNP:rs2835774
intronic
37798191
G T
forward
DBSNP:rs9975651
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
37799373
G T
forward
DBSNP:rs2186339
untranslated
37662694
A G
forward
DBSNP:rs12483205
untranslated
37662810
A T
forward
DBSNP:rs13049226
untranslated
37663844
C G
forward
DBSNP:rs2211838
untranslated
37663844
C G
forward
DBSNP:rs2211838
untranslated
37664335
A G
forward
DBSNP:rs2211839
untranslated
37664335
A G
forward
DBSNP:rs2211839
untranslated
37665319
C T
forward
DBSNP:rs11701386
untranslated
37665630
G T
forward
DBSNP:rs11910816
untranslated
37665756
A G
forward
DBSNP:rs2835705
untranslated
37665756
A G
forward
DBSNP:rs2835705
untranslated
37666456
A C
forward
DBSNP:rs2409894
untranslated
37666456
A C
forward
DBSNP:rs2409894
untranslated
37667061
G T
forward
DBSNP:rs11702765
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
untranslated
37667275
C T
forward
DBSNP:rs11911926
untranslated
37667352
C G
forward
DBSNP:rs11911778
untranslated
37667553
C G
forward
DBSNP:rs11700732
untranslated
37667833
C G
forward
DBSNP:rs2835706
untranslated
37667833
C G
forward
DBSNP:rs2835706
untranslated
37668046
A G
forward
DBSNP:rs2257040
untranslated
37668046
A G
forward
DBSNP:rs2257040
untranslated
37668716
A G
forward
DBSNP:rs9978894
untranslated
37668864
A C
forward
DBSNP:rs13052071
untranslated
37668991
C T
forward
DBSNP:rs9636634
untranslated
37669779
C T
forward
DBSNP:rs11702136
untranslated
37670555
C T
forward
DBSNP:rs9636920
untranslated
37670616
C G
forward
DBSNP:rs7277796
untranslated
37670660
C T
forward
DBSNP:rs9636921
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
untranslated
37671053
A G
forward
DBSNP:rs1475887
untranslated
37671179
A T
forward
DBSNP:rs2835707
untranslated
37671179
A T
forward
DBSNP:rs2835707
untranslated
37671716
C G
forward
DBSNP:rs9982748
untranslated
37671789
C T
forward
DBSNP:rs9982836
untranslated
37672887
C T
forward
DBSNP:rs12481981
untranslated
37673716
A G
forward
DBSNP:rs2154543
untranslated
37673716
A G
forward
DBSNP:rs2154543
untranslated
37673734
A C
forward
DBSNP:rs2835708
untranslated
37673734
A C
forward
DBSNP:rs2835708
untranslated
37674650
A G
forward
DBSNP:rs11701862
untranslated
37674729
C T
forward
DBSNP:rs11701900
untranslated
37675224
C T
forward
DBSNP:rs1060576
untranslated
37675224
C T
forward
DBSNP:rs1060576
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
untranslated
37675236
C G
forward
DBSNP:rs1060577
untranslated
37675388
G T
forward
DBSNP:rs1060578
untranslated
37675388
G T
forward
DBSNP:rs1060578
untranslated
37676374
G T
forward
DBSNP:rs7277662
untranslated
37676473
G T
forward
DBSNP:rs11700450
untranslated
37676964
A G
forward
DBSNP:rs12151982
untranslated
37677753
C T
forward
DBSNP:rs11701543
untranslated
37680221
C G
forward
DBSNP:rs12626319
untranslated
37680409
A G
forward
DBSNP:rs6517412
untranslated
37680409
A G
forward
DBSNP:rs6517412
untranslated
37680888
C T
forward
DBSNP:rs12482409
untranslated
37681374
G T
forward
DBSNP:rs11088389
untranslated
37681422
A G
forward
DBSNP:rs11088390
untranslated
37681971
A G
forward
DBSNP:rs2835709
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
untranslated
37682106
A G
forward
DBSNP:rs2835710
untranslated
37682106
A G
forward
DBSNP:rs2835710
untranslated
37682108
G T
forward
DBSNP:rs11700867
untranslated
37682297
C T
forward
DBSNP:rs12329710
untranslated
37682299
C T
forward
DBSNP:rs12329711
untranslated
37682951
A G
forward