Hedgehog Signaling Pathway Database
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Human Mutations -
wif1
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
A > T
10
N
DBSNP:rs11539163
S > S
59
S
DBSNP:rs11539162
C > C
310
S
DBSNP:rs1026024
intronic
63732415
C T
forward
DBSNP:rs3782495
intronic
63732582
C G
forward
DBSNP:rs3782496
intronic
63733202
A G
forward
DBSNP:rs1446526
intronic
63733304
G T
forward
DBSNP:rs1446527
intronic
63734562
A G
reverse
DBSNP:rs2216889
intronic
63734835
C T
forward
DBSNP:rs2336165
intronic
63735338
A G
forward
DBSNP:rs1026025
intronic
63736009
C T
forward
DBSNP:rs12317641
intronic
63736368
G T
forward
DBSNP:rs11489878
intronic
63736414
C T
forward
DBSNP:rs12814916
intronic
63736493
A C
forward
DBSNP:rs12297338
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
63737335
A T
forward
DBSNP:rs12319662
intronic
63737510
C T
forward
DBSNP:rs12370350
intronic
63737869
C T
reverse
DBSNP:rs1986113
intronic
63738207
A C
forward
DBSNP:rs959176
intronic
63738611
C T
forward
DBSNP:rs12314633
intronic
63739310
A T
reverse
DBSNP:rs4964104
intronic
63740218
A G
reverse
DBSNP:rs889971
intronic
63740506
C T
forward
DBSNP:rs11175634
intronic
63740577
A C
forward
DBSNP:rs11175635
intronic
63740578
A C
forward
DBSNP:rs11175636
intronic
63740881
C T
forward
DBSNP:rs12318609
intronic
63741574
A G
forward
DBSNP:rs3825228
intronic
63742014
A G
forward
DBSNP:rs1374294
intronic
63742636
A G
forward
DBSNP:rs12322409
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
63745638
A C
forward
DBSNP:rs11175637
intronic
63746341
A C
forward
DBSNP:rs3782497
intronic
63746635
A G
forward
DBSNP:rs3782498
intronic
63747724
A G
forward
DBSNP:rs12298938
intronic
63748255
A G
forward
DBSNP:rs12300523
intronic
63749220
C G
forward
DBSNP:rs2289935
intronic
63749282
G T
forward
DBSNP:rs3816340
intronic
63749914
A G
forward
DBSNP:rs1446528
intronic
63750224
A T
forward
DBSNP:rs12814485
intronic
63751110
C T
forward
DBSNP:rs12319573
intronic
63751881
C T
forward
DBSNP:rs2034262
intronic
63752309
C T
forward
DBSNP:rs12321644
intronic
63752650
C T
forward
DBSNP:rs12302048
intronic
63752919
C T
forward
DBSNP:rs3782499
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
63753160
A G
forward
DBSNP:rs11175638
intronic
63753802
A G
forward
DBSNP:rs2166481
intronic
63753844
C G
forward
DBSNP:rs969028
intronic
63754081
A G
forward
DBSNP:rs12315357
intronic
63755986
A T
forward
DBSNP:rs12818732
intronic
63756972
A C
forward
DBSNP:rs2121338
intronic
63757734
A G
forward
DBSNP:rs2289936
intronic
63758047
A C
forward
DBSNP:rs12322887
intronic
63759045
C T
forward
DBSNP:rs12297882
intronic
63759067
C T
forward
DBSNP:rs12297922
intronic
63760941
C T
forward
DBSNP:rs2878638
intronic
63763861
C T
forward
DBSNP:rs12809984
intronic
63763876
C T
forward
DBSNP:rs10878227
intronic
63763908
A C
forward
DBSNP:rs12832197
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
63764670
C T
forward
DBSNP:rs978352
intronic
63764683
A G
forward
DBSNP:rs11175639
intronic
63765541
A G
forward
DBSNP:rs12312864
intronic
63765771
A C
forward
DBSNP:rs1446530
intronic
63766305
A G
forward
DBSNP:rs1979034
intronic
63766626
A G
forward
DBSNP:rs1979035
intronic
63766814
A G
forward
DBSNP:rs11175640
intronic
63767162
A C
forward
DBSNP:rs12316501
intronic
63768214
C T
forward
DBSNP:rs11610885
intronic
63769304
A C
forward
DBSNP:rs10878228
intronic
63770118
C T
forward
DBSNP:rs11612023
intronic
63770399
A G
forward
DBSNP:rs12322334
intronic
63772581
C G
forward
DBSNP:rs12312812
intronic
63772639
G T
forward
DBSNP:rs11175641
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
63775190
C T
forward
DBSNP:rs11175642
intronic
63777430
C T
reverse
DBSNP:rs1900292
intronic
63778145
C T
reverse
DBSNP:rs1446531
intronic
63779982
C T
forward
DBSNP:rs12317613
intronic
63781547
C T
forward
DBSNP:rs11175643
intronic
63786400
A C
forward
DBSNP:rs12819314
intronic
63786420
A T
reverse
DBSNP:rs2030122
intronic
63786422
A T
forward
DBSNP:rs2336386
intronic
63787643
A C
reverse
DBSNP:rs2133324
intronic
63788725
G T
forward
DBSNP:rs12810270
intronic
63789642
C G
forward
DBSNP:rs749566
intronic
63789864
C T
forward
DBSNP:rs11175644
intronic
63790014
C G
forward
DBSNP:rs17765135
intronic
63790221
A G
forward
DBSNP:rs1466828
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
63791237
C T
forward
DBSNP:rs17101043
intronic
63791366
A G
forward
DBSNP:rs17101044
intronic
63792534
G T
forward
DBSNP:rs12580820
intronic
63793192
C T
forward
DBSNP:rs4334066
intronic
63793239
C G
forward
DBSNP:rs4491282
intronic
63794202
A T
forward
DBSNP:rs12813497
intronic
63794204
A G
forward
DBSNP:rs12813498
intronic
63794769
A C
forward
DBSNP:rs12311025
intronic
63795055
G T
forward
DBSNP:rs10878230
intronic
63795252
A T
forward
DBSNP:rs11175646
intronic
63795486
C T
forward
DBSNP:rs11175647
intronic
63795756
A G
forward
DBSNP:rs12367082
intronic
63797619
A G
forward
DBSNP:rs2173456
intronic
63798658
A G
forward
DBSNP:rs1566319
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
63799576
C T
forward
DBSNP:rs1566320
intronic
63799623
G T
forward
DBSNP:rs1566321
intronic
63799624
A C
forward
DBSNP:rs1566322
intronic
63800985
A G
forward
DBSNP:rs2279745
Last updated 28-Aug-2006
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