Hedgehog Signaling Pathway Database
 
Human Mutations - Gli3
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
PALLISTER-HALL SYNDROME 2023     delG             9054938 Kang, S.; Graham, J. M., Jr.; Olney, A. H.; Biesecker, L. G. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nature Genet. 15: 266-268, 1997.
PALLISTER-HALL SYNDROME 2012     delG             9054938 Kang, S.; Graham, J. M., Jr.; Olney, A. H.; Biesecker, L. G. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nature Genet. 15: 266-268, 1997.
PREAXIAL POLYDACTYLY, TYPE IV 3647     insC L > P 1216 N       10441570 The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations. Am. J. Hum. Genet. 65: 645-655, 1999.
PALLISTER-HALL SYNDROME 3439 G T     E > X 1147 N 15     10441570 The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations. Am. J. Hum. Genet. 65: 645-655, 1999.
POSTAXIAL POLYDACTYLY, TYPE A1/B 3707     delG             10441570 The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations. Am. J. Hum. Genet. 65: 645-655, 1999.
POSTAXIAL POLYDACTYLY, TYPE A1/B         R > X 643 N       10441570 The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations. Am. J. Hum. Genet. 65: 645-655, 1999.
POSTAXIAL POLYDACTYLY, TYPE A1/B         G > R 727 N       10441570 The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations. Am. J. Hum. Genet. 65: 645-655, 1999.
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME         E > X 543 N       10441342 Kalff-Suske, M.; Wild, A.; Topp, J.; Wessling, M.; Jacobsen, E.-M.; Bornholdt, D.; Engel, H.; Heuer, H.; Aalfs, C. M.; Ausems, M. G. E. M.; Barone, R.; Herzog, A. and 11 others Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum. Molec. Genet. 8: 1769-1777, 1999.
PALLISTER-HALL SYNDROME 2993     ins72 mtDNA       14     12545275 Turner, C.; Killoran, C.; Thomas, N. S. T.; Rosenberg, M.; Chuzhanova, N. A.; Johnston, J.; Kemel, Y.; Cooper, D. N.; Biesecker, L. G. Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum. Genet. 112: 303-309, 2003.
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME         R > W 625           Debeer, P.; Peeters, H.; Driess, S.; De Smet, L.; Freese, K.; Matthijs, G.; Bornholdt, D.; Devriendt, K.; Grzeschik, K.-H.; Fryns, J.-P.; Kalff-Suske, M. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am. J. Med. Genet. 120A: 49-58, 2003.
ACROCALLOSAL SYNDROME 2800 G C     A > P 934   15     12414818 Elson, E.; Perveen, R.; Donnai, D.; Wall, S.; Black, G. C. M. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J. Med. Genet. 39: 804-806, 2002.
PREAXIAL POLYDACTYLY, TYPE IV 868 C T     R > X 290         15811011 Fujioka, H.; Ariga, T.; Horiuchi, K.; Otsu, M.; Igawa, H.; Kawashima, K.; Yamamoto, Y.; Sugihara, T.; Sakiyama, Y. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. Clin. Genet. 67: 429-433, 2005.
          T > A 183 N   DBSNP:rs846266    
          D > E 440 N   SWISS:VAR_010052   10441342  
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
GCPS         C > Y 520 N   SWISS:VAR_010054      
GCPS         P > S 707 N   SWISS:VAR_010055   9302279  
PAPA1/PAPB         G > R 727 N   SWISS:VAR_009876   10441570  
          N > K 787 N   DBSNP:rs10259802      
GCPS         I > M 808 N   SWISS:VAR_010056      
          P > L 998 N   DBSNP:rs929387      
          S > C 1532 N   DBSNP:rs2079451      
          R > C 1537 N   SWISS:VAR_010057   10441342  
          H > H 179 S   DBSNP:rs3898405      
Intronic 41780311 C T forward           DBSNP:rs4724083      
Intronic 41781551 A G forward           DBSNP:rs13311786      
Intronic 41781552 A G forward           DBSNP:rs13311900      
Intronic 41781582 A G forward           DBSNP:rs11983962      
Intronic 41781602 A G forward           DBSNP:rs11977224      
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 41781669 A C forward           DBSNP:rs11977201      
Intronic 41781816 A G forward           DBSNP:rs11984023      
Intronic 41782364 A T forward           DBSNP:rs7782675      
Intronic 41782635 C T forward           DBSNP:rs3801159      
Intronic 41783139 C G forward           DBSNP:rs6463081      
Intronic 41783327 C T forward           DBSNP:rs13226244      
Intronic 41784456 A G forward           DBSNP:rs10263583      
Intronic 41784704 C T forward           DBSNP:rs10263647      
Intronic 41787125 C T forward           DBSNP:rs7788717      
Intronic 41788129 A T forward           DBSNP:rs7776918      
Intronic 41788185 A G forward           DBSNP:rs4724084      
Intronic 41788260 A G forward           DBSNP:rs7794242      
Intronic 41788404 A G forward           DBSNP:rs7794414      
Intronic 41788720 A C forward           DBSNP:rs4724085      
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 41791631 C T forward           DBSNP:rs17707162      
Intronic 41791939 C T forward           DBSNP:rs7802385      
Intronic 41792012 C T forward           DBSNP:rs7802411      
Intronic 41792204 A G forward           DBSNP:rs10244883      
Intronic 41792390 C T forward           DBSNP:rs7787535      
Intronic 41792814 A T forward           DBSNP:rs17707194      
Intronic 41793110 A C forward           DBSNP:rs10486730      
Intronic 41793370 A G forward           DBSNP:rs4364531      
Intronic 41793802 A T forward           DBSNP:rs7457094      
Intronic 41794981 A G forward           DBSNP:rs6463082      
Intronic 41795464 A C forward           DBSNP:rs12701944      
Intronic 41796146 A G forward           DBSNP:rs12667146      
Intronic 41796640 C T reverse           DBSNP:rs2299148      
Intronic 41796775 A C forward           DBSNP:rs4720412      
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 41797695 A C forward           DBSNP:rs11973928      
Intronic 41797731 C T forward           DBSNP:rs11977500      
Intronic 41798079 A G forward           DBSNP:rs10237616      
Intronic 41798577 A G forward           DBSNP:rs17639979      
Intronic 41798944 A G forward           DBSNP:rs17707253      
Intronic 41799297 A G reverse           DBSNP:rs2237431      
Intronic 41800212 C T forward           DBSNP:rs4724087      
Intronic 41800956 A C forward           DBSNP:rs11983617      
Intronic 41801832 C T forward           DBSNP:rs9648514      
Intronic 41801912 C T forward           DBSNP:rs17640003      
Intronic 41802385 A G forward           DBSNP:rs10235536      
Intronic 41803926 A C forward           DBSNP:rs9648515      
Intronic 41804021 C G forward           DBSNP:rs12374830      
Intronic 41804192 A G forward           DBSNP:rs9648516      
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 41804347 A G forward           DBSNP:rs9648517      
Intronic 41804464 G T reverse           DBSNP:rs2237429      
Intronic 41804520 A G reverse           DBSNP:rs2237428      
Intronic 41804544 A G forward           DBSNP:rs11771690      
Intronic 41804886 A T reverse           DBSNP:rs2299147      
Intronic 41805786 C T forward           DBSNP:rs10263807      
Intronic 41805805 A G reverse           DBSNP:rs2237427      
Intronic 41805870 C T forward           DBSNP:rs10248487      
Intronic 41806435 A G reverse           DBSNP:rs2299146      
Intronic 41807641 C T reverse           DBSNP:rs2141173      
Intronic 41807650 C T forward           DBSNP:rs17640060      
Intronic 41807712 A G reverse           DBSNP:rs2141172      
Intronic 41807968 A G forward           DBSNP:rs10486731      
Intronic 41808071 A G forward           DBSNP:rs6969239      
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 41808376 C T forward           DBSNP:rs6463083      
Intronic 41808440 C T forward           DBSNP:rs6463084      
Intronic 41808591 A C forward           DBSNP:rs6973819      
Intronic 41808863 C T forward           DBSNP:rs11772482      
Intronic 41809585 C T reverse           DBSNP:rs846272      
Intronic 41809625 G T forward           DBSNP:rs17640127      
Intronic 41810077 A G reverse           DBSNP:rs846271      
Intronic 41810143 A G forward           DBSNP:rs876923      
Intronic 41810349 A G forward           DBSNP:rs17171994      
Intronic 41810574 A T reverse           DBSNP:rs846270      
Intronic 41811033 C T reverse           DBSNP:rs2299145      
Intronic 41811145 A C reverse           DBSNP:rs876504      
Intronic 41811206 A T forward           DBSNP:rs17777970      
Intronic 41811424 C T reverse           DBSNP:rs699485      
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 41813398 C T reverse           DBSNP:rs699486      
Intronic 41814055 A G forward           DBSNP:rs6463085      
Intronic 41814226 A G forward           DBSNP:rs10233459      
Intronic 41814663 C T forward           DBSNP:rs7793187      
Intronic 41814905 A G forward           DBSNP:rs6463086      
Intronic 41815373 C T forward           DBSNP:rs17640236      
Intronic 41815381 A C forward           DBSNP:rs17707510      
Intronic 41815638 C T reverse           DBSNP:rs846289      
Intronic 41816585 C T forward           DBSNP:rs17640246      
Intronic 41817037 C T forward           DBSNP:rs17707521      
Intronic 41817593 C G forward           DBSNP:rs12673507      
Intronic 41817871 A G reverse           DBSNP:rs2299144      
Intronic 41818541 C T reverse           DBSNP:rs699487      
Intronic 41818827 A G forward           DBSNP:rs11984019      
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 41819616 C T forward           DBSNP:rs12666094      
Intronic 41820536 C T forward           DBSNP:rs17640264      
Intronic 41821506 A G forward           DBSNP:rs17171995      
Intronic 41823996 A G forward           DBSNP:rs10215546      
Intronic 41824684 A C reverse           DBSNP:rs846303      
Intronic 41825767 C T reverse           DBSNP:rs929386      
Intronic 41826976 C G reverse           DBSNP:rs846302      
Intronic 41827168 A G reverse           DBSNP:rs2299143      
Intronic 41827287 A G reverse           DBSNP:rs846301      
Intronic 41827296 A G forward           DBSNP:rs6942590      
Intronic 41827708 A C reverse           DBSNP:rs699488      
Intronic 41828381 C T forward           DBSNP:rs12668359      
Intronic 41828501 C G reverse           DBSNP:rs846300      
Intronic 41828738 C G forward           DBSNP:rs4724088      
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 41828984 A G reverse           DBSNP:rs699489      
Intronic 41829434 A G reverse           DBSNP:rs846299      
Intronic 41831446 C T forward           DBSNP:rs13227613      
Intronic 41831531 A G forward           DBSNP:rs7806689      
Intronic 41834116 A C reverse           DBSNP:rs846279      
Intronic 41834197 A C reverse           DBSNP:rs846278      
Intronic 41834742 A G reverse           DBSNP:rs846277      
Intronic 41834763 A G reverse           DBSNP:rs2299142      
Intronic 41835168 C T forward           DBSNP:rs10262927      
Intronic 41835188 A T reverse           DBSNP:rs846276      
Intronic 41835194 C T reverse           DBSNP:rs846275      
Intronic 41835226 C T reverse           DBSNP:rs846274      
Intronic 41836051 A G forward           DBSNP:rs10248828      
Intronic 41838092 C G reverse           DBSNP:rs846273      
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 41840006 C T forward           DBSNP:rs7811785      
Intronic 41840121 C T reverse           DBSNP:rs846288      
Intronic 41840596 C G reverse           DBSNP:rs2237425      
Intronic 41841293 C G forward           DBSNP:rs10250711      
Intronic 41841461 C T reverse           DBSNP:rs846287      
Intronic 41842776 A G reverse           DBSNP:rs846286      
Intronic 41842928 C T forward           DBSNP:rs3779137      
Intronic 41843081 C T reverse           DBSNP:rs846285      
Intronic 41843268 C T forward           DBSNP:rs12536693      
Intronic 41843492 A C reverse           DBSNP:rs846284      
Intronic 41843550 G T forward           DBSNP:rs10259358      
Intronic 41843683 C T reverse           DBSNP:rs846283      
Intronic 41844423 A T reverse           DBSNP:rs861677      
Intronic 41844664 A G forward           DBSNP:rs17640329      
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 41845567 A G forward           DBSNP:rs3801161      
Intronic 41845723 C T reverse           DBSNP:rs846334      
Intronic 41845745 G T reverse           DBSNP:rs846333      
Intronic 41845824 A G reverse           DBSNP:rs846332      
Intronic 41845889 G T forward           DBSNP:rs4620180      
Intronic 41846136 A G reverse           DBSNP:rs846331      
Intronic 41846327 A G reverse           DBSNP:rs846330      
Intronic 41847202 A G reverse           DBSNP:rs846329      
Intronic 41847241 A T reverse           DBSNP:rs846328      
Intronic 41847821 C T forward           DBSNP:rs7808359      
Intronic 41849902 C T forward           DBSNP:rs7799730      
Intronic 41849958 A C forward           DBSNP:rs10225873      
Intronic 41850133 A G reverse           DBSNP:rs846327      
Intronic 41850906 C G reverse           DBSNP:rs846326      
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 41851096 C T reverse           DBSNP:rs846325      
Intronic 41851554 A G reverse           DBSNP:rs846324      
Intronic 41852187 C T reverse           DBSNP:rs846323      
Intronic 41852247 A C forward           DBSNP:rs10244735      
Intronic 41852327 C T reverse           DBSNP:rs2240439      
Intronic 41852596 G T reverse           DBSNP:rs846322      
Intronic 41853282 C T reverse           DBSNP:rs846321      
Intronic 41853481 C G reverse           DBSNP:rs846320      
Intronic 41853527 G T forward           DBSNP:rs7811555      
Intronic 41853793 A G reverse           DBSNP:rs699490      
Intronic 41854342 C G reverse           DBSNP:rs846319      
Intronic 41854429 A C forward           DBSNP:rs10253245      
Intronic 41855009 A G forward           DBSNP:rs12666015      
Intronic 41855353 A G reverse           DBSNP:rs846318      
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 41856408 A G reverse           DBSNP:rs846317      
Intronic 41857016 A G reverse           DBSNP:rs846316      
Intronic 41857513 A C reverse           DBSNP:rs699491      
Intronic 41857677 A T forward           DBSNP:rs10265970      
Intronic 41857704 A T forward           DBSNP:rs10215949      
Intronic 41857968 C T reverse           DBSNP:rs699492      
Intronic 41858029 A G forward           DBSNP:rs11974012      
Intronic 41858069 C T reverse           DBSNP:rs699493      
Intronic 41858470 A G reverse           DBSNP:rs2840182      
Intronic 41858813 C T forward           DBSNP:rs10241030      
Intronic 41859293 C T forward           DBSNP:rs4724089      
Intronic 41859294 A T forward           DBSNP:rs4724090      
Intronic 41859693 A G forward           DBSNP:rs6953964      
Intronic 41859866 C T reverse           DBSNP:rs846269      
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 41860630 A G reverse           DBSNP:rs846268      
Intronic 41860805 C T reverse           DBSNP:rs1405753      
Intronic 41860807 C G reverse           DBSNP:rs1405752      
Intronic 41860845 G T forward           DBSNP:rs2330282      
Intronic 41860877 C G reverse           DBSNP:rs1405751      
Intronic 41861206 C T reverse           DBSNP:rs846267      
Intronic 41861601 A G forward           DBSNP:rs7806570      
Intronic 41861710 G T reverse           DBSNP:rs846265      
Intronic 41862169 C T forward           DBSNP:rs3801162      
Intronic 41863315 A G forward           DBSNP:rs10239261      
Intronic 41863768 G T reverse           DBSNP:rs846264      
Intronic 41864345 C T forward           DBSNP:rs7785287      
Intronic 41864470 C T forward           DBSNP:rs10259076      
Intronic 41865632 C T reverse           DBSNP:rs846263      
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 41865995 C T forward           DBSNP:rs9791676      
Intronic 41866116 A G forward           DBSNP:rs10248730      
Intronic 41867713 A G forward           DBSNP:rs6968283      
Intronic 41867859 C T forward           DBSNP:rs11767745      
Intronic 41867891 C T forward           DBSNP:rs10256446      
Intronic 41867904 A G forward           DBSNP:rs11767789      
Intronic 41867911 C T forward           DBSNP:rs11771459      
Intronic 41868293 C T reverse           DBSNP:rs699494      
Intronic 41869076 C T reverse           DBSNP:rs2282920      
Intronic 41869506 C T forward           DBSNP:rs7794103      
Intronic 41869730 A T forward           DBSNP:rs4720413      
Intronic 41869761 A G reverse           DBSNP:rs1852542      
Intronic 41870018 A G forward           DBSNP:rs4720414      
Intronic 41870222 A G forward           DBSNP:rs4720415      
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 41870834 A C forward           DBSNP:rs2330283      
Intronic 41871398 C T forward           DBSNP:rs2330284      
Intronic 41871441 A C forward           DBSNP:rs11983849      
Intronic 41871505 C T forward           DBSNP:rs2330285      
Intronic 41871777 C T reverse           DBSNP:rs1527500      
Intronic 41872120 A G reverse           DBSNP:rs917230      
Intronic 41872216 C T reverse           DBSNP:rs917229      
Intronic 41873665 A G reverse           DBSNP:rs2237423      
Intronic 41874171 A G reverse           DBSNP:rs2237422      
Intronic 41874450 A G forward           DBSNP:rs9986932      
Intronic 41874603 A G reverse           DBSNP:rs2237421      
Intronic 41874733 C T reverse           DBSNP:rs2237420      
Intronic 41875060 G T reverse           DBSNP:rs1527499      
Intronic 41875212 C T reverse           DBSNP:rs2237419      
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 41875878 A T forward           DBSNP:rs9986673      
Intronic 41875923 C T forward           DBSNP:rs1012140      
Intronic 41875952 C T forward           DBSNP:rs3801164      
Intronic 41875979 C G forward           DBSNP:rs3801165      
Intronic 41876061 C T reverse           DBSNP:rs1527497      
Intronic 41876326 A G forward           DBSNP:rs11764414      
Intronic 41876559 A G reverse           DBSNP:rs2282919      
Intronic 41876624 A C reverse           DBSNP:rs1527496      
Intronic 41878087 A T forward           DBSNP:rs6956404      
Intronic 41878214 A G forward           DBSNP:rs6960238      
Intronic 41878419 A T forward           DBSNP:rs10236375      
Intronic 41878427 A G forward           DBSNP:rs6960725      
Intronic 41878875 C T forward           DBSNP:rs13438737      
Intronic 41878876 A G forward           DBSNP:rs17172001      
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 41879275 A T forward           DBSNP:rs7798461      
Intronic 41879278 C T forward           DBSNP:rs7798596      
Intronic 41879351 C T forward           DBSNP:rs6965985      
Intronic 41879656 A G forward           DBSNP:rs7799496      
Intronic 41879806 A G forward           DBSNP:rs7799683      
Intronic 41879833 C T forward           DBSNP:rs7782596      
Intronic 41879839 A G forward           DBSNP:rs6966658      
Intronic 41879840 C T forward           DBSNP:rs7799542      
Intronic 41879959 C T forward           DBSNP:rs7799719      
Intronic 41879977 A T forward           DBSNP:rs7799584      
Intronic 41880573 C T forward           DBSNP:rs6971570      
Intronic 41880696 C T forward           DBSNP:rs6971751      
Intronic 41881251 G T reverse           DBSNP:rs2237418      
Intronic 41881385 C T forward           DBSNP:rs6959829      
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 41881739 A G reverse           DBSNP:rs2237417      
Intronic 41881807 C G forward           DBSNP:rs17640580      
Intronic 41881811 G T forward           DBSNP:rs10250283      
Intronic 41881901 A C forward           DBSNP:rs6960695      
Intronic 41881970 A T forward           DBSNP:rs7776923      
Intronic 41882105 A G forward           DBSNP:rs6960887      
Intronic 41882172 A G forward           DBSNP:rs7797875      
Intronic 41882873 C T forward           DBSNP:rs6965961      
Intronic 41883034 A T forward           DBSNP:rs6966146      
Intronic 41883306 A C forward           DBSNP:rs7802706      
Intronic 41883346 A T forward           DBSNP:rs7786060      
Intronic 41883692 C T forward           DBSNP:rs7803421      
Intronic 41883740 A G forward           DBSNP:rs7803428      
Intronic 41883764 C T forward           DBSNP:rs7786698      
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 41884162 C T forward           DBSNP:rs7807699      
Intronic 41885773 G T forward           DBSNP:rs10282353      
Intronic 41886093 C T forward           DBSNP:rs10266986      
Intronic 41886386 C T forward           DBSNP:rs17172002      
Intronic 41886833 G T reverse           DBSNP:rs1358341      
Intronic 41886878 C T reverse           DBSNP:rs1918379      
Intronic 41887006 A G forward           DBSNP:rs4321900      
Intronic 41887069 C T reverse           DBSNP:rs1918378      
Intronic 41887265 G T reverse           DBSNP:rs2237416      
Intronic 41887335 C G forward           DBSNP:rs7787368      
Intronic 41887803 A C forward           DBSNP:rs4430004      
Intronic 41887832 C G forward           DBSNP:rs6954947      
Intronic 41887922 C T reverse           DBSNP:rs2237415      
Intronic 41888211 C T forward           DBSNP:rs6463087      
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 41888756 A G forward           DBSNP:rs7793034      
Intronic 41889128 C T forward           DBSNP:rs10951666      
Intronic 41889450 C G forward           DBSNP:rs12665936      
Intronic 41889944 A G forward           DBSNP:rs17172004      
Intronic 41889969 A G reverse           DBSNP:rs2074741      
Intronic 41890095 C T reverse           DBSNP:rs1405750      
Intronic 41890280 A T reverse           DBSNP:rs2072201      
Intronic 41890563 A C forward           DBSNP:rs13224936      
Intronic 41891832 C T forward           DBSNP:rs4724092      
Intronic 41891857 C T forward           DBSNP:rs4724093      
Intronic 41892065 C T forward           DBSNP:rs4724094      
Intronic 41892121 A T forward           DBSNP:rs6968300      
Intronic 41892172 C T forward           DBSNP:rs3801166      
Intronic 41892394 A G forward           DBSNP:rs3801167      
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 41893104 A T forward           DBSNP:rs3801169      
Intronic 41893280 G T reverse           DBSNP:rs1024552      
Intronic 41893447 A T reverse           DBSNP:rs1012136      
Intronic 41893473 A G reverse           DBSNP:rs1012135      
Intronic 41894472 A G forward           DBSNP:rs17172006      
Intronic 41894691 A G forward           DBSNP:rs17172007      
Intronic 41894793 C T reverse           DBSNP:rs865860      
Intronic 41894825 A G reverse           DBSNP:rs866417      
Intronic 41895021 A G forward           DBSNP:rs10282638      
Intronic 41895323 C T reverse           DBSNP:rs846298      
Intronic 41895433 A G forward           DBSNP:rs10256288      
Intronic 41895873 A G reverse           DBSNP:rs846297      
Intronic 41895894 C T reverse           DBSNP:rs846296      
Intronic 41895908 A C forward           DBSNP:rs10256793      
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 41897165 C G reverse           DBSNP:rs846294      
Intronic 41897195 C T reverse           DBSNP:rs846293      
Intronic 41897322 C G reverse           DBSNP:rs846292      
Intronic 41897360 C T forward           DBSNP:rs10235184      
Intronic 41897817 C T forward           DBSNP:rs7811878      
Intronic 41897909 G T reverse           DBSNP:rs846291      
Intronic 41898501 A G forward           DBSNP:rs3801170      
Intronic 41898543 G T reverse           DBSNP:rs846290      
Intronic 41898801 C T forward           DBSNP:rs10255426      
Intronic 41898823 A G forward           DBSNP:rs17640723      
Intronic 41899111 A G reverse           DBSNP:rs2108166      
Intronic 41899140 A G forward           DBSNP:rs12539142      
Intronic 41899844 C T forward           DBSNP:rs3779144      
Intronic 41900237 A G reverse           DBSNP:rs846315      
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 41901135 C G reverse           DBSNP:rs846314      
Intronic 41901604 A G reverse           DBSNP:rs846313      
Intronic 41901992 C T forward           DBSNP:rs17707985      
Intronic 41902136 A G reverse           DBSNP:rs846312      
Intronic 41902421 C G reverse           DBSNP:rs846311      
Intronic 41902663 A G reverse           DBSNP:rs846310      
Intronic 41903668 A G reverse           DBSNP:rs846309      
Intronic 41903941 C T reverse           DBSNP:rs846308      
Intronic 41903991 C T reverse           DBSNP:rs846307      
Intronic 41904090 C T reverse           DBSNP:rs846306      
Intronic 41904223 A C reverse           DBSNP:rs846305      
Intronic 41904542 G T reverse           DBSNP:rs2108165      
Intronic 41904630 C T forward           DBSNP:rs17640804      
Intronic 41905468 A G forward           DBSNP:rs13241999      
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 41905811 C G forward           DBSNP:rs4480018      
Intronic 41905906 A G forward           DBSNP:rs13242491      
Intronic 41906469 A G reverse           DBSNP:rs846282      
Intronic 41906598 C T forward           DBSNP:rs3779145      
Intronic 41908360 G T forward           DBSNP:rs3801174      
Intronic 41908371 A G forward           DBSNP:rs11978993      
Intronic 41908376 A G forward           DBSNP:rs10259111      
Intronic 41908735 C G forward           DBSNP:rs3779146      
Intronic 41908883 G T forward           DBSNP:rs17172009      
Intronic 41909400 C T forward           DBSNP:rs3779147      
Intronic 41909459 C T reverse           DBSNP:rs846281      
Intronic 41911672 C G reverse           DBSNP:rs846280      
Intronic 41911820 A G forward           DBSNP:rs11976945      
Intronic 41911946 C G forward           DBSNP:rs3801176      
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 41912325 C T forward           DBSNP:rs699495      
Intronic 41912704 A G forward           DBSNP:rs3823723      
Intronic 41913001 C T forward           DBSNP:rs10254362      
Intronic 41913373 C G forward           DBSNP:rs2330409      
Intronic 41913404 A G forward           DBSNP:rs2877136      
Intronic 41913553 C T forward           DBSNP:rs2877137      
Intronic 41914672 A C forward           DBSNP:rs12532148      
Intronic 41914977 A G forward           DBSNP:rs4281031      
Intronic 41915187 A G forward           DBSNP:rs3801177      
Intronic 41915900 A G forward           DBSNP:rs1949974      
Intronic 41917530 A G forward           DBSNP:rs7787414      
Intronic 41918851 A T forward           DBSNP:rs4576336      
Intronic 41919039 C T forward           DBSNP:rs3801178      
Intronic 41919190 C T forward           DBSNP:rs1527501      
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 41919610 A G forward           DBSNP:rs2141175      
Intronic 41919852 A G forward           DBSNP:rs2178029      
Intronic 41919885 C T forward           DBSNP:rs9986672      
Intronic 41920614 C T forward           DBSNP:rs3779149      
Intronic 41920985 C T forward           DBSNP:rs3801180      
Intronic 41921428 C T forward           DBSNP:rs10269139      
Intronic 41922364 C T forward           DBSNP:rs1918380      
Intronic 41922415 G T forward           DBSNP:rs1918381      
Intronic 41922488 A C forward           DBSNP:rs11771710      
Intronic 41922551 G T reverse           DBSNP:rs1125413      
Intronic 41922661 C T forward           DBSNP:rs2141176      
Intronic 41922766 C T forward           DBSNP:rs11982351      
Intronic 41923058 C T forward           DBSNP:rs2330410      
Intronic 41923087 A T forward           DBSNP:rs2330411      
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 41924102 C T forward           DBSNP:rs10278332      
Intronic 41924352 C T forward           DBSNP:rs3801182      
Intronic 41924580 C T forward           DBSNP:rs1534316      
Intronic 41924681 A G forward           DBSNP:rs3801183      
Intronic 41924839 A G forward           DBSNP:rs6463088      
Intronic 41924961 A G forward           DBSNP:rs10951667      
Intronic 41925034 A C forward           DBSNP:rs10951668      
Intronic 41925750 A G forward           DBSNP:rs10256538      
Intronic 41925835 A G forward           DBSNP:rs12536278      
Intronic 41925931 C G forward           DBSNP:rs7802174      
Intronic 41926034 A G forward           DBSNP:rs10951669      
Intronic 41926096 A G forward           DBSNP:rs6463089      
Intronic 41926583 C T forward           DBSNP:rs6463090      
Intronic 41926598 C T forward           DBSNP:rs6463091      
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 41927450 C T forward           DBSNP:rs10250816      
Intronic 41927602 A G forward           DBSNP:rs10235569      
Intronic 41927756 A G forward           DBSNP:rs10264834      
Intronic 41927782 C G forward           DBSNP:rs10235819      
Intronic 41928102 C T forward           DBSNP:rs10251612      
Intronic 41928458 A C forward           DBSNP:rs3801184      
Intronic 41928584 G T forward           DBSNP:rs3801185      
Intronic 41928787 C T forward           DBSNP:rs7800024      
Intronic 41929206 C G forward           DBSNP:rs7785042      
Intronic 41929499 A G forward           DBSNP:rs3801186      
Intronic 41929603 A G forward           DBSNP:rs3801187      
Intronic 41930198 C T forward           DBSNP:rs10499619      
Intronic 41930387 C T forward           DBSNP:rs17172014      
Intronic 41930785 A G reverse           DBSNP:rs10488187      
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 41932263 A C forward           DBSNP:rs13230000      
Intronic 41932264 C T forward           DBSNP:rs13244365      
Intronic 41932703 A C reverse           DBSNP:rs846400      
Intronic 41932779 C T forward           DBSNP:rs3801189      
Intronic 41933732 A C forward           DBSNP:rs846399      
Intronic 41933943 A G reverse           DBSNP:rs846398      
Intronic 41933968 C T reverse           DBSNP:rs846397      
Intronic 41933988 A G reverse           DBSNP:rs846396      
Intronic 41934199 A G forward           DBSNP:rs10242174      
Intronic 41934212 C T reverse           DBSNP:rs846395      
Intronic 41934767 C T forward           DBSNP:rs3801192      
Intronic 41934851 A C reverse           DBSNP:rs699496      
Intronic 41934868 C T reverse           DBSNP:rs699497      
Intronic 41934975 A G forward           DBSNP:rs699498      
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 41935553 A G reverse           DBSNP:rs699500      
Intronic 41935587 C G reverse           DBSNP:rs699501      
Intronic 41935647 G T forward           DBSNP:rs3938299      
Intronic 41935851 C T forward           DBSNP:rs3801194      
Intronic 41936065 A G reverse           DBSNP:rs846394      
Intronic 41936276 C T forward           DBSNP:rs3801196      
Intronic 41936397 A G forward           DBSNP:rs1405754      
Intronic 41936709 A G reverse           DBSNP:rs699502      
Intronic 41937100 C T reverse           DBSNP:rs846393      
Intronic 41937289 A C forward           DBSNP:rs3801198      
Intronic 41937690 C T reverse           DBSNP:rs846392      
Intronic 41938888 A T forward           DBSNP:rs860150      
Intronic 41939044 A T forward           DBSNP:rs846391      
Intronic 41939681 G T reverse           DBSNP:rs846390      
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 41941607 A C reverse           DBSNP:rs846388      
Intronic 41941797 C T forward           DBSNP:rs13232033      
Intronic 41942020 A G reverse           DBSNP:rs846387      
Intronic 41942073 A C reverse           DBSNP:rs846386      
Intronic 41942175 C G reverse           DBSNP:rs846385      
Intronic 41942189 C T reverse           DBSNP:rs846384      
Intronic 41942485 A G reverse           DBSNP:rs846383      
Intronic 41942634 C G reverse           DBSNP:rs846382      
Intronic 41943174 A G forward           DBSNP:rs17172015      
Intronic 41943726 A C forward           DBSNP:rs1405755      
Intronic 41944281 A G forward           DBSNP:rs846381      
Intronic 41944436 A G reverse           DBSNP:rs846380      
Intronic 41944784 A G forward           DBSNP:rs17172016      
Intronic 41945088 C T forward           DBSNP:rs12701945      
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 41945160 C G reverse           DBSNP:rs846379      
Intronic 41945247 A G forward           DBSNP:rs7455113      
Intronic 41945954 A G forward           DBSNP:rs3801200      
Intronic 41946368 A G reverse           DBSNP:rs846378      
Intronic 41947183 A G forward           DBSNP:rs10274308      
Intronic 41947836 G T forward           DBSNP:rs6974655      
Intronic 41948080 C T reverse           DBSNP:rs846377      
Intronic 41948174 C T forward           DBSNP:rs13231026      
Intronic 41949522 A G forward           DBSNP:rs2049622      
Intronic 41949676 A C forward           DBSNP:rs12665907      
Intronic 41950027 G T reverse           DBSNP:rs720790      
Intronic 41950187 A G reverse           DBSNP:rs720791      
Intronic 41950251 G T reverse           DBSNP:rs720789      
Intronic 41950709 C T forward           DBSNP:rs12668912      
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 41952450 A G forward           DBSNP:rs1852543      
Intronic 41952617 A G forward           DBSNP:rs6463092      
Intronic 41952633 C T forward           DBSNP:rs6972614      
Intronic 41952785 G T forward           DBSNP:rs17753324      
Intronic 41953378 A G reverse           DBSNP:rs846376      
Intronic 41953448 C T reverse           DBSNP:rs1003877      
Intronic 41953645 A G reverse           DBSNP:rs860149      
Intronic 41953869 A G forward           DBSNP:rs3801201      
Intronic 41953879 C T forward           DBSNP:rs7810494      
Intronic 41954474 A G forward           DBSNP:rs10281751      
Intronic 41954856 A G forward           DBSNP:rs846375      
Intronic 41955041 A T reverse           DBSNP:rs1003876      
Intronic 41955613 A C forward           DBSNP:rs6968387      
Intronic 41957870 A G forward           DBSNP:rs6979762      
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 41958558 A C forward           DBSNP:rs3823727      
Intronic 41958736 A G forward           DBSNP:rs3823728      
Intronic 41959537 G T forward           DBSNP:rs7804489      
Intronic 41960423 A G forward           DBSNP:rs3801202      
Intronic 41961570 A G reverse           DBSNP:rs846374      
Intronic 41961640 A C forward           DBSNP:rs3801203      
Intronic 41961778 A C forward           DBSNP:rs3801204      
Intronic 41961904 A G forward           DBSNP:rs6972617      
Intronic 41962096 A G forward           DBSNP:rs10230715      
Intronic 41962229 A G forward           DBSNP:rs4724095      
Intronic 41963512 C T reverse           DBSNP:rs846373      
Intronic 41963764 A G forward           DBSNP:rs11763632      
Intronic 41964639 A G forward           DBSNP:rs13238004      
Intronic 41964812 C T forward           DBSNP:rs3801205      
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 41964937 G T forward           DBSNP:rs12536626      
Intronic 41964940 C T forward           DBSNP:rs12533868      
Intronic 41965487 C T forward           DBSNP:rs3779159      
Intronic 41967122 C T forward           DBSNP:rs3801206      
Intronic 41967125 A G forward           DBSNP:rs3801207      
Intronic 41968004 C T forward           DBSNP:rs6967212      
Intronic 41968069 A G forward           DBSNP:rs9655427      
Intronic 41968642 A G forward           DBSNP:rs3779160      
Intronic 41968673 A T forward           DBSNP:rs699503      
Intronic 41969030 A G forward           DBSNP:rs7805301      
Intronic 41970307 A G forward           DBSNP:rs3801208      
Intronic 41971714 C T forward           DBSNP:rs3823729      
Intronic 41971755 C T forward           DBSNP:rs3801209      
Intronic 41971800 C T forward           DBSNP:rs3801210      
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 41974302 G T forward           DBSNP:rs4724096      
Intronic 41974680 C T forward           DBSNP:rs11983263      
Intronic 41975114 C T forward           DBSNP:rs3801211      
Intronic 41975833 G T forward           DBSNP:rs7796599      
Intronic 41975835 A T forward           DBSNP:rs7796602      
Intronic 41976120 C T forward           DBSNP:rs6964128      
Intronic 41976593 C T reverse           DBSNP:rs846401      
Intronic 41976693 A C forward           DBSNP:rs13236718      
Intronic 41977582 A T forward           DBSNP:rs13227580      
Intronic 41977630 C T forward           DBSNP:rs13240390      
Intronic 41978664 A C forward           DBSNP:rs13244278      
Intronic 41978686 A T forward           DBSNP:rs13244188      
Intronic 41978717 A C forward           DBSNP:rs13244298      
Intronic 41978741 C T forward           DBSNP:rs13244381      
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 41979174 A G forward           DBSNP:rs3779162      
Intronic 41979357 A G forward           DBSNP:rs3779163      
Intronic 41979567 C T forward           DBSNP:rs13220934      
Intronic 41980236 A T forward           DBSNP:rs17172020      
Intronic 41980272 A G forward           DBSNP:rs3801212      
Intronic 41980437 C T forward           DBSNP:rs4720416      
Intronic 41980903 A G forward           DBSNP:rs10257627      
Intronic 41981689 A T forward           DBSNP:rs10264101      
Intronic 41982290 C T forward           DBSNP:rs6963356      
Intronic 41982329 C T forward           DBSNP:rs17753653      
Intronic 41982574 A G reverse           DBSNP:rs2190513      
Intronic 41982592 A G forward           DBSNP:rs11984291      
Intronic 41982612 A G forward           DBSNP:rs12701948      
Intronic 41982791 C T forward           DBSNP:rs11977555      
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 41983509 A G forward           DBSNP:rs7801861      
Intronic 41983620 C T forward           DBSNP:rs4368883      
Intronic 41984065 C T forward           DBSNP:rs3801213      
Intronic 41984081 A C forward           DBSNP:rs12536413      
Intronic 41984457 C T forward           DBSNP:rs2330413      
Intronic 41985089 C T reverse           DBSNP:rs2286294      
Intronic 41985420 A G reverse           DBSNP:rs2286293      
Intronic 41985701 A C reverse           DBSNP:rs2286292      
Intronic 41986311 C T forward           DBSNP:rs3801214      
Intronic 41986728 A C forward           DBSNP:rs3801215      
Intronic 41986899 C T reverse           DBSNP:rs1859844      
Intronic 41988045 C T forward           DBSNP:rs9692185      
Intronic 41988167 C T reverse           DBSNP:rs2190512      
Intronic 41988285 C T forward           DBSNP:rs7809727      
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 41988822 C T forward           DBSNP:rs9886332      
Intronic 41989544 A T forward           DBSNP:rs3779165      
Intronic 41989795 A C forward           DBSNP:rs3823731      
Intronic 41990267 A G forward           DBSNP:rs9886211      
Intronic 41990362 A G forward           DBSNP:rs9885996      
Intronic 41990537 A T forward           DBSNP:rs3779166      
Intronic 41990656 A G forward           DBSNP:rs3779167      
Intronic 41990764 C T forward           DBSNP:rs3779168      
Intronic 41990864 C T forward           DBSNP:rs3779169      
Intronic 41991355 C G forward           DBSNP:rs740339      
Intronic 41991748 C T forward           DBSNP:rs10268259      
Intronic 41992086 A T reverse           DBSNP:rs740338      
Intronic 41992171 A G forward           DBSNP:rs2330414      
Intronic 41992203 A G forward           DBSNP:rs10242186      
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 41994276 C T forward           DBSNP:rs11763205      
Intronic 41994341 G T forward           DBSNP:rs3779172      
Intronic 41994464 C G forward           DBSNP:rs9648519      
Intronic 41994545 A G forward           DBSNP:rs3779173      
Intronic 41995053 C T forward           DBSNP:rs12540671      
Intronic 41995287 A T forward           DBSNP:rs12533569      
Intronic 41995485 A G forward           DBSNP:rs11767406      
Intronic 41995522 C T forward           DBSNP:rs11760695      
Intronic 41995641 A G forward           DBSNP:rs10951670      
Intronic 41995702 C T forward           DBSNP:rs12397717      
Intronic 41996970 A G forward           DBSNP:rs12531765      
Intronic 41997820 A G forward           DBSNP:rs7810189      
Intronic 41997824 A G forward           DBSNP:rs7810303      
Intronic 41997916 C G forward           DBSNP:rs7810704      
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 41998226 A G forward           DBSNP:rs3779175      
Intronic 41998458 A C forward           DBSNP:rs3823732      
Intronic 41998520 C T forward           DBSNP:rs3779176      
Intronic 41998784 C T forward           DBSNP:rs3779177      
Intronic 41999952 A T reverse           DBSNP:rs2058019      
Intronic 42001052 A G forward           DBSNP:rs4481489      
Intronic 42001484 C T forward           DBSNP:rs6970699      
Intronic 42001795 C G forward           DBSNP:rs7803924      
Intronic 42002140 A G reverse           DBSNP:rs2108368      
Intronic 42002279 A T forward           DBSNP:rs12534805      
Intronic 42002304 A G reverse           DBSNP:rs2108367      
Intronic 42002537 A G reverse           DBSNP:rs2158921      
Intronic 42002751 A G forward           DBSNP:rs12374756      
Intronic 42002796 G T forward           DBSNP:rs9655428      
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 42003186 C T forward           DBSNP:rs10951671      
Intronic 42004317 C G forward           DBSNP:rs10951672      
Intronic 42004426 A C forward           DBSNP:rs10241136      
Intronic 42004476 C T forward           DBSNP:rs10951673      
Intronic 42004535 A C forward           DBSNP:rs10951674      
Intronic 42004834 A G forward           DBSNP:rs6949792      
Intronic 42005049 A G forward           DBSNP:rs7783733      
Intronic 42005308 A G forward           DBSNP:rs12701950      
Intronic 42005662 C T forward           DBSNP:rs10261063      
Intronic 42005669 C G forward           DBSNP:rs12669176      
Intronic 42005757 C T forward           DBSNP:rs10245706      
Intronic 42006053 A G forward           DBSNP:rs17810462      
Intronic 42006145 G T forward           DBSNP:rs3779178      
Intronic 42006523 A G forward           DBSNP:rs3801216      
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 42006798 C T forward           DBSNP:rs3801217      
Intronic 42007100 C T forward           DBSNP:rs6942797      
Intronic 42008281 A G forward           DBSNP:rs7802798      
Intronic 42008691 A G forward           DBSNP:rs3823733      
Intronic 42008920 C G forward           DBSNP:rs12670953      
Intronic 42009059 C T forward           DBSNP:rs6463093      
Intronic 42009282 G T forward           DBSNP:rs3779179      
Intronic 42009297 C T forward           DBSNP:rs4642545      
Intronic 42009520 A C forward           DBSNP:rs3779180      
Intronic 42009574 A G forward           DBSNP:rs6976209      
Intronic 42010269 C T forward           DBSNP:rs3801218      
Intronic 42011968 C T forward           DBSNP:rs3801219      
Intronic 42012360 C T forward           DBSNP:rs7796149      
Intronic 42013934 A G reverse           DBSNP:rs1019046      
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 42014448 A G forward           DBSNP:rs6974454      
Intronic 42015221 A T forward           DBSNP:rs10234930      
Intronic 42015996 A G forward           DBSNP:rs10265659      
Intronic 42017613 A G forward           DBSNP:rs3823734      
Intronic 42017615 G T forward           DBSNP:rs4724097      
Intronic 42018626 A T forward           DBSNP:rs11973232      
Intronic 42018739 C T forward           DBSNP:rs17172023      
Intronic 42019001 A G forward           DBSNP:rs11983409      
Intronic 42019870 C T reverse           DBSNP:rs2108366      
Intronic 42021116 A G forward           DBSNP:rs3801220      
Intronic 42021356 C T forward           DBSNP:rs3801221      
Intronic 42021466 A G forward           DBSNP:rs3801222      
Intronic 42021613 A G forward           DBSNP:rs6945790      
Intronic 42021939 C T reverse           DBSNP:rs1019044      
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 42022788 C T forward           DBSNP:rs12113615      
Intronic 42022823 C T forward           DBSNP:rs12113616      
Intronic 42022951 C T forward           DBSNP:rs17172024      
Intronic 42023097 A C forward           DBSNP:rs7785053      
Intronic 42023191 A C forward           DBSNP:rs2877138      
Intronic 42023192 A C forward           DBSNP:rs2330415      
Intronic 42023390 C T forward           DBSNP:rs3801223      
Intronic 42023469 G T forward           DBSNP:rs3801224      
Intronic 42023518 A C forward           DBSNP:rs3801225      
Intronic 42023658 A G reverse           DBSNP:rs1019043      
Intronic 42023661 C T reverse           DBSNP:rs1019042      
Intronic 42023875 A G forward           DBSNP:rs3801228      
Intronic 42024135 A G reverse           DBSNP:rs990661      
Intronic 42025302 G T forward           DBSNP:rs3801230      
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 42025477 C T forward           DBSNP:rs3801231      
Intronic 42026553 C T forward           DBSNP:rs3801232      
Intronic 42026671 C G forward           DBSNP:rs3801233      
Intronic 42026802 C T forward           DBSNP:rs17172025      
Intronic 42027056 C G reverse           DBSNP:rs2041046      
Intronic 42027313 G T reverse           DBSNP:rs2108365      
Intronic 42027608 A C forward           DBSNP:rs13230182      
Intronic 42027741 A G reverse           DBSNP:rs1468452      
Intronic 42029853 A G forward           DBSNP:rs11764679      
Intronic 42030124 C G forward           DBSNP:rs6955604      
Intronic 42030424 C G forward           DBSNP:rs3801234      
Intronic 42031403 A G forward           DBSNP:rs13224961      
Intronic 42031738 C T forward           DBSNP:rs7803489      
Intronic 42032621 A G reverse           DBSNP:rs1029619      
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 42033290 A G forward           DBSNP:rs3801235      
Intronic 42033851 A G forward           DBSNP:rs11980714      
Intronic 42034064 C G forward           DBSNP:rs3801236      
Intronic 42034780 A T forward           DBSNP:rs17172026      
Intronic 42035092 A G forward           DBSNP:rs6949528      
Intronic 42035315 G T forward           DBSNP:rs7806204      
Intronic 42035908 A C reverse           DBSNP:rs2286291      
untranslated 41776919 A T forward           DBSNP:rs6972450      

Last updated 28-Aug-2006

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