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 4