Hedgehog Signaling Pathway Database
 
Human Mutations - sufu
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
MEDULLOBLASTOMA 44 C T     P > L 15 N       12068298 Taylor, M. D.; Liu, L.; Raffel, C.; Hui, C.; Mainprize, T. G.; Zhang, X.; Agatep, R.; Chiappa, S.; Gao, L.; Lowrance, A.; Hao, A.; Goldstein, A. M.; Stavrou, T.; Scherer, S. W.; Dura, W. T.; Wainwright, B.; Squire, J. A.; Rutka, J. T.; Hogg, D. Mutations in SUFU predispose to medulloblastoma. Nature Genet. 31: 306-310, 2002.
MEDULLOBLASTOMA 143     insA       E1     12068298 Taylor, M. D.; Liu, L.; Raffel, C.; Hui, C.; Mainprize, T. G.; Zhang, X.; Agatep, R.; Chiappa, S.; Gao, L.; Lowrance, A.; Hao, A.; Goldstein, A. M.; Stavrou, T.; Scherer, S. W.; Dura, W. T.; Wainwright, B.; Squire, J. A.; Rutka, J. T.; Hogg, D. Mutations in SUFU predispose to medulloblastoma. Nature Genet. 31: 306-310, 2002.
MEDULLOBLASTOMA       IVS8       E9     12068298 Taylor, M. D.; Liu, L.; Raffel, C.; Hui, C.; Mainprize, T. G.; Zhang, X.; Agatep, R.; Chiappa, S.; Gao, L.; Lowrance, A.; Hao, A.; Goldstein, A. M.; Stavrou, T.; Scherer, S. W.; Dura, W. T.; Wainwright, B.; Squire, J. A.; Rutka, J. T.; Hogg, D. Mutations in SUFU predispose to medulloblastoma. Nature Genet. 31: 306-310, 2002.
          A > D 17 N   DBSNP:rs12780580      
          D > A 69 N   DBSNP:rs4351743      
          G > G 11 S   DBSNP:rs12780566      
          I > I 433 S   DBSNP:rs17114803      
intronic 104254097 C T forward           DBSNP:rs2274351      
intronic 104254270 A G reverse           DBSNP:rs3808934      
intronic 104255037 C T forward           DBSNP:rs7072351      
intronic 104255431 C T forward           DBSNP:rs11191308      
intronic 104255555 C T forward           DBSNP:rs7901294      
intronic 104255785 G T forward           DBSNP:rs7918179      
intronic 104255787 A G forward           DBSNP:rs12242839      
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 104256220 C G forward           DBSNP:rs7902317      
intronic 104256224 C T forward           DBSNP:rs12257883      
intronic 104256480 A G forward           DBSNP:rs12244704      
intronic 104256793 C T forward           DBSNP:rs4919648      
intronic 104258616 C T forward           DBSNP:rs12767131      
intronic 104258790 C G forward           DBSNP:rs10748822      
intronic 104258867 C G forward           DBSNP:rs2281879      
intronic 104259207 A G forward           DBSNP:rs2281880      
intronic 104259291 A G forward           DBSNP:rs10883728      
intronic 104259995 G T forward           DBSNP:rs12774693      
intronic 104260219 A T forward           DBSNP:rs12775108      
intronic 104260504 A C forward           DBSNP:rs11191309      
intronic 104260771 A G forward           DBSNP:rs10786670      
intronic 104261082 A C forward           DBSNP:rs11191310      
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 104261664 A C reverse           DBSNP:rs1326193      
intronic 104262220 C T forward           DBSNP:rs11191311      
intronic 104262326 C T forward           DBSNP:rs4919649      
intronic 104262692 A G forward           DBSNP:rs12261195      
intronic 104262779 C T forward           DBSNP:rs10786672      
intronic 104263853 C T forward           DBSNP:rs4919650      
intronic 104263880 C T forward           DBSNP:rs4919651      
intronic 104263933 A G forward           DBSNP:rs10883729      
intronic 104264147 A C forward           DBSNP:rs4919652      
intronic 104264182 C T forward           DBSNP:rs12263467      
intronic 104264319 C G forward           DBSNP:rs11598092      
intronic 104264455 C G forward           DBSNP:rs10748823      
intronic 104264456 C T forward           DBSNP:rs10748824      
intronic 104264533 C T forward           DBSNP:rs4919653      
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 104264808 A G forward           DBSNP:rs7094751      
intronic 104265408 C T forward           DBSNP:rs1884929      
intronic 104265878 C T forward           DBSNP:rs11592819      
intronic 104266033 C T forward           DBSNP:rs913025      
intronic 104267113 A C forward           DBSNP:rs7070591      
intronic 104267133 C T forward           DBSNP:rs17114624      
intronic 104267430 C T forward           DBSNP:rs7912901      
intronic 104268266 A G forward           DBSNP:rs12768479      
intronic 104268591 C T forward           DBSNP:rs11191312      
intronic 104268608 C T forward           DBSNP:rs11191313      
intronic 104268619 A G forward           DBSNP:rs11191314      
intronic 104268683 A G forward           DBSNP:rs11592334      
intronic 104269384 A G forward           DBSNP:rs17782574      
intronic 104269963 C T forward           DBSNP:rs11191315      
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 104270114 A G forward           DBSNP:rs11191317      
intronic 104270228 A C forward           DBSNP:rs10883730      
intronic 104270527 A G forward           DBSNP:rs10786673      
intronic 104270654 A G forward           DBSNP:rs2145307      
intronic 104271145 C G forward           DBSNP:rs7090034      
intronic 104271229 G T forward           DBSNP:rs7090276      
intronic 104271730 A G forward           DBSNP:rs7894032      
intronic 104272150 C T reverse           DBSNP:rs1409311      
intronic 104272255 A G reverse           DBSNP:rs1409310      
intronic 104272408 C T forward           DBSNP:rs7087665      
intronic 104272727 A T forward           DBSNP:rs4919655      
intronic 104272851 A G forward           DBSNP:rs4919656      
intronic 104273155 A G forward           DBSNP:rs7074343      
intronic 104273864 A C forward           DBSNP:rs7078511      
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 104274076 C T forward           DBSNP:rs7078796      
intronic 104275076 C T forward           DBSNP:rs10786674      
intronic 104275110 C T reverse           DBSNP:rs2031605      
intronic 104275584 A T forward           DBSNP:rs12572775      
intronic 104276102 C G forward           DBSNP:rs10786675      
intronic 104276133 C T forward           DBSNP:rs12762175      
intronic 104276167 G T forward           DBSNP:rs12218224      
intronic 104276338 C T forward           DBSNP:rs12356083      
intronic 104276640 C T forward           DBSNP:rs12356404      
intronic 104277038 C T forward           DBSNP:rs1967814      
intronic 104277041 A G forward           DBSNP:rs1967815      
intronic 104277255 C T forward           DBSNP:rs11596327      
intronic 104277262 A G forward           DBSNP:rs12769433      
intronic 104277349 G T forward           DBSNP:rs17114641      
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 104278767 A C reverse           DBSNP:rs1536308      
intronic 104279493 A C forward           DBSNP:rs11191319      
intronic 104280452 C T forward           DBSNP:rs7902306      
intronic 104282690 C T forward           DBSNP:rs7919307      
intronic 104282826 A G forward           DBSNP:rs7919346      
intronic 104283117 A G forward           DBSNP:rs10883731      
intronic 104283384 C T forward           DBSNP:rs11191320      
intronic 104283402 C T forward           DBSNP:rs11191321      
intronic 104283451 A G forward           DBSNP:rs10883732      
intronic 104283599 A G forward           DBSNP:rs10748825      
intronic 104284218 A C forward           DBSNP:rs7893155      
intronic 104284231 C T forward           DBSNP:rs12253736      
intronic 104284362 G T forward           DBSNP:rs7909939      
intronic 104284550 C T forward           DBSNP:rs12255349      
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 104284713 C T forward           DBSNP:rs7896857      
intronic 104284767 C T forward           DBSNP:rs12255507      
intronic 104285145 A G forward           DBSNP:rs7897368      
intronic 104285392 C T forward           DBSNP:rs7914389      
intronic 104286203 C T forward           DBSNP:rs9988738      
intronic 104286459 A T forward           DBSNP:rs7921939      
intronic 104286626 C T forward           DBSNP:rs9665602      
intronic 104287040 C G forward           DBSNP:rs11191322      
intronic 104287353 C T forward           DBSNP:rs7082296      
intronic 104287781 A G reverse           DBSNP:rs2031604      
intronic 104287945 A G reverse           DBSNP:rs2031603      
intronic 104288667 G T forward           DBSNP:rs7914769      
intronic 104289254 A G forward           DBSNP:rs7915589      
intronic 104289628 C T forward           DBSNP:rs7904134      
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 104289966 C T forward           DBSNP:rs7096072      
intronic 104290628 C G forward           DBSNP:rs9665626      
intronic 104290630 A G forward           DBSNP:rs9665632      
intronic 104290801 C T forward           DBSNP:rs9665634      
intronic 104290969 C T forward           DBSNP:rs7100753      
intronic 104291154 C T forward           DBSNP:rs4919657      
intronic 104291303 A G forward           DBSNP:rs7067595      
intronic 104291387 C T forward           DBSNP:rs12268384      
intronic 104291397 C T forward           DBSNP:rs1810761      
intronic 104291767 A G forward           DBSNP:rs12358353      
intronic 104291916 A G forward           DBSNP:rs11191323      
intronic 104292193 A T forward           DBSNP:rs10883733      
intronic 104292617 C T forward           DBSNP:rs11191324      
intronic 104292923 A G forward           DBSNP:rs11191325      
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 104293873 C T forward           DBSNP:rs11191327      
intronic 104294657 A G forward           DBSNP:rs12770498      
intronic 104294733 A G forward           DBSNP:rs6584511      
intronic 104294756 C T forward           DBSNP:rs7078435      
intronic 104294835 G T forward           DBSNP:rs12265384      
intronic 104295031 A G forward           DBSNP:rs7918044      
intronic 104295065 A G forward           DBSNP:rs12220819      
intronic 104295109 C T forward           DBSNP:rs12220810      
intronic 104295175 C T forward           DBSNP:rs11191328      
intronic 104295307 A C forward           DBSNP:rs11191329      
intronic 104296150 G T forward           DBSNP:rs11191330      
intronic 104297494 A G forward           DBSNP:rs7899576      
intronic 104297945 C G reverse           DBSNP:rs2031602      
intronic 104298054 A C reverse           DBSNP:rs2031601      
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 104298436 C T forward           DBSNP:rs10883735      
intronic 104300915 C T forward           DBSNP:rs7089494      
intronic 104302409 G T forward           DBSNP:rs12247593      
intronic 104303355 C T forward           DBSNP:rs10786677      
intronic 104303367 C T forward           DBSNP:rs11591681      
intronic 104303385 C T forward           DBSNP:rs10786678      
intronic 104304869 C G forward           DBSNP:rs11191333      
intronic 104305151 A G forward           DBSNP:rs10453989      
intronic 104305657 A G forward           DBSNP:rs10786679      
intronic 104305926 C T forward           DBSNP:rs1033965      
intronic 104306317 A G forward           DBSNP:rs4526717      
intronic 104306504 A G forward           DBSNP:rs10453990      
intronic 104306522 A G forward           DBSNP:rs7092120      
intronic 104306534 A G forward           DBSNP:rs7092567      
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 104306960 A G forward           DBSNP:rs11191334      
intronic 104307182 C T forward           DBSNP:rs10786680      
intronic 104307226 C G forward           DBSNP:rs11191335      
intronic 104307347 G T forward           DBSNP:rs10786681      
intronic 104307628 C T forward           DBSNP:rs11191336      
intronic 104307775 G T forward           DBSNP:rs11191337      
intronic 104308312 G T forward           DBSNP:rs10786682      
intronic 104308956 A G forward           DBSNP:rs7893954      
intronic 104310019 G T forward           DBSNP:rs10883736      
intronic 104310466 A G forward           DBSNP:rs10786683      
intronic 104310888 C G forward           DBSNP:rs10883737      
intronic 104311711 C T forward           DBSNP:rs10883738      
intronic 104313018 G T forward           DBSNP:rs10786684      
intronic 104313093 A G forward           DBSNP:rs10786685      
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 104314600 A G forward           DBSNP:rs4917971      
intronic 104315974 C G forward           DBSNP:rs17782856      
intronic 104316366 A C forward           DBSNP:rs11812843      
intronic 104317154 A G forward           DBSNP:rs7906115      
intronic 104317399 A G forward           DBSNP:rs11813401      
intronic 104317574 A G forward           DBSNP:rs3862030      
intronic 104318256 G T forward           DBSNP:rs7087027      
intronic 104318358 C T forward           DBSNP:rs11191338      
intronic 104318401 A C forward           DBSNP:rs4409765      
intronic 104318454 C T forward           DBSNP:rs11191339      
intronic 104318644 A T forward           DBSNP:rs4917972      
intronic 104318646 A T forward           DBSNP:rs11191340      
intronic 104318668 C T forward           DBSNP:rs7090733      
intronic 104318670 C T forward           DBSNP:rs7090734      
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 104318709 A C forward           DBSNP:rs11593710      
intronic 104318849 G T forward           DBSNP:rs7091252      
intronic 104319675 A G forward           DBSNP:rs6584512      
intronic 104320067 C T forward           DBSNP:rs11598815      
intronic 104321268 A C forward           DBSNP:rs12780265      
intronic 104321269 A C forward           DBSNP:rs12780451      
intronic 104321649 C T forward           DBSNP:rs10786686      
intronic 104321976 A G forward           DBSNP:rs10883739      
intronic 104323690 C T forward           DBSNP:rs4917973      
intronic 104323874 C G forward           DBSNP:rs12572920      
intronic 104324309 A G forward           DBSNP:rs2025714      
intronic 104324579 A G forward           DBSNP:rs7094188      
intronic 104324635 A G forward           DBSNP:rs6584513      
intronic 104324812 A C forward           DBSNP:rs10883740      
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 104325911 A G forward           DBSNP:rs12267496      
intronic 104326628 C T forward           DBSNP:rs11814025      
intronic 104326832 C T forward           DBSNP:rs12784294      
intronic 104326976 A G forward           DBSNP:rs12784963      
intronic 104326984 A C forward           DBSNP:rs10786687      
intronic 104327452 G T forward           DBSNP:rs10883742      
intronic 104327935 A G forward           DBSNP:rs12357886      
intronic 104328004 A C forward           DBSNP:rs12767100      
intronic 104328379 C T forward           DBSNP:rs10883743      
intronic 104328822 A G forward           DBSNP:rs17114679      
intronic 104329317 A G forward           DBSNP:rs11191341      
intronic 104329841 C T forward           DBSNP:rs11595170      
intronic 104330045 A G forward           DBSNP:rs7909136      
intronic 104330694 C T forward           DBSNP:rs9783158      
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 104331425 C T forward           DBSNP:rs7899004      
intronic 104331877 C T forward           DBSNP:rs729023      
intronic 104331965 C T forward           DBSNP:rs729024      
intronic 104332196 C T forward           DBSNP:rs729025      
intronic 104332491 C T reverse           DBSNP:rs746552      
intronic 104332573 A G reverse           DBSNP:rs746551      
intronic 104332794 A G forward           DBSNP:rs11591571      
intronic 104333418 A C forward           DBSNP:rs7475335      
intronic 104333658 C T forward           DBSNP:rs12355079      
intronic 104333811 A G reverse           DBSNP:rs1780827      
intronic 104334440 A G forward           DBSNP:rs11191342      
intronic 104335187 C T forward           DBSNP:rs7907760      
intronic 104335215 A G forward           DBSNP:rs11191343      
intronic 104335978 C T forward           DBSNP:rs11191344      
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 104336397 A G forward           DBSNP:rs6584514      
intronic 104337237 A G forward           DBSNP:rs10883744      
intronic 104338231 A G forward           DBSNP:rs10444023      
intronic 104338983 A G forward           DBSNP:rs6584515      
intronic 104339092 C T forward           DBSNP:rs2182392      
intronic 104339117 C T forward           DBSNP:rs7068535      
intronic 104339377 A G forward           DBSNP:rs11191346      
intronic 104339473 A G forward           DBSNP:rs7072723      
intronic 104339521 A G forward           DBSNP:rs12411442      
intronic 104339889 C T forward           DBSNP:rs12415671      
intronic 104339895 C T forward           DBSNP:rs12220547      
intronic 104339900 C T forward           DBSNP:rs7475223      
intronic 104339907 C T forward           DBSNP:rs7475225      
intronic 104339952 A G forward           DBSNP:rs7898166      
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 104340510 A T forward           DBSNP:rs9663243      
intronic 104340691 C T forward           DBSNP:rs3916182      
intronic 104341547 C T forward           DBSNP:rs10883748      
intronic 104341607 A G forward           DBSNP:rs11191347      
intronic 104342755 A C forward           DBSNP:rs12763052      
intronic 104344091 A G forward           DBSNP:rs17114716      
intronic 104344414 C T forward           DBSNP:rs3936017      
intronic 104344499 C T forward           DBSNP:rs3936016      
intronic 104344794 C T forward           DBSNP:rs10748826      
intronic 104345265 C T reverse           DBSNP:rs3934960      
intronic 104345433 C G forward           DBSNP:rs7075807      
intronic 104346349 C T forward           DBSNP:rs10786689      
intronic 104346812 A G forward           DBSNP:rs10786690      
intronic 104348393 C T forward           DBSNP:rs4919661      
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 104348464 A G forward           DBSNP:rs12779854      
intronic 104348843 C T forward           DBSNP:rs11815464      
intronic 104349340 A G reverse           DBSNP:rs3824756      
intronic 104349874 C T forward           DBSNP:rs12762934      
intronic 104350414 A G forward           DBSNP:rs4919662      
intronic 104350508 C T forward           DBSNP:rs4917976      
intronic 104351701 A G reverse           DBSNP:rs3934495      
intronic 104351747 C G forward           DBSNP:rs7477227      
intronic 104352391 C T forward           DBSNP:rs7477319      
intronic 104353109 C T forward           DBSNP:rs4917977      
intronic 104353283 C T forward           DBSNP:rs4919663      
intronic 104353398 A C forward           DBSNP:rs4919664      
intronic 104353558 C G forward           DBSNP:rs7099180      
intronic 104353695 C T forward           DBSNP:rs7083530      
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 104354532 A G forward           DBSNP:rs11191349      
intronic 104354642 A G forward           DBSNP:rs10786691      
intronic 104355038 G T forward           DBSNP:rs12761480      
intronic 104355714 A G forward           DBSNP:rs7075269      
intronic 104356032 C T forward           DBSNP:rs4919665      
intronic 104356343 C T forward           DBSNP:rs4917978      
intronic 104357082 C T forward           DBSNP:rs7904955      
intronic 104358284 A G forward           DBSNP:rs12782153      
intronic 104358326 G T forward           DBSNP:rs10748827      
intronic 104358746 A C forward           DBSNP:rs10786695      
intronic 104358899 C T forward           DBSNP:rs7898797      
intronic 104359794 C T forward           DBSNP:rs12415939      
intronic 104360013 A G forward           DBSNP:rs10736158      
intronic 104360652 C T forward           DBSNP:rs7907417      
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 104362431 C T forward           DBSNP:rs10883753      
intronic 104363290 A G forward           DBSNP:rs7908249      
intronic 104363748 C G forward           DBSNP:rs7912339      
intronic 104363894 A G forward           DBSNP:rs4604806      
intronic 104364236 C T forward           DBSNP:rs12572855      
intronic 104364608 A G forward           DBSNP:rs4325251      
intronic 104364643 A T forward           DBSNP:rs4408249      
intronic 104364805 C G forward           DBSNP:rs7093285      
intronic 104365248 A G forward           DBSNP:rs2001389      
intronic 104365262 C T forward           DBSNP:rs2298280      
intronic 104365395 G T forward           DBSNP:rs2298281      
intronic 104365726 C T forward           DBSNP:rs2863716      
intronic 104366453 C T forward           DBSNP:rs12416257      
intronic 104367752 C T forward           DBSNP:rs7091457      
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 104368553 G T forward           DBSNP:rs10786697      
intronic 104368740 A G forward           DBSNP:rs10786698      
intronic 104370676 A G forward           DBSNP:rs7087984      
intronic 104372663 A G forward           DBSNP:rs11191353      
intronic 104372867 A G forward           DBSNP:rs11191354      
intronic 104374019 A G forward           DBSNP:rs4919666      
intronic 104375374 A G forward           DBSNP:rs4244353      
intronic 104375388 A G forward           DBSNP:rs7907090      
intronic 104375612 C T forward           DBSNP:rs7910191      
intronic 104375735 C G forward           DBSNP:rs7086434      
intronic 104376142 A G forward           DBSNP:rs7086898      
intronic 104376299 A T forward           DBSNP:rs4285804      
intronic 104377009 C T forward           DBSNP:rs12414407      
intronic 104377725 C T forward           DBSNP:rs10786700      
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 104378539 C T forward           DBSNP:rs12357172      
intronic 104378700 C T forward           DBSNP:rs4917979      
untranslated 104379922 G T forward           DBSNP:rs4917980