Hedgehog Signaling Pathway Database
 
Human Mutations - Ttc10
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
          L > F 125 N   DBSNP:rs9315740      
          M > I 383 N   DBSNP:rs2442455      
          S > N 455 N   DBSNP:rs9509307      
          Y > * 565 N   DBSNP:rs4145579      
          S > G 671 N   DBSNP:rs9552254      
intronic 20040705 A C forward           DBSNP:rs4261375      
intronic 20040705 A C forward           DBSNP:rs9552245      
intronic 20040897 G T forward           DBSNP:rs12867684      
intronic 20040898 C G forward           DBSNP:rs12858381      
intronic 20040956 G T forward           DBSNP:rs12867823      
intronic 20041029 A T forward           DBSNP:rs12871485      
intronic 20041032 C T forward           DBSNP:rs12871496      
intronic 20041121 A G forward           DBSNP:rs4770057      
intronic 20041283 C T forward           DBSNP:rs4770058      
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 20041707 A G forward           DBSNP:rs7997190      
intronic 20041710 C T forward           DBSNP:rs4477545      
intronic 20041725 A T forward           DBSNP:rs4769121      
intronic 20044232 A G forward           DBSNP:rs9509284      
intronic 20045044 C T forward           DBSNP:rs4522279      
intronic 20046408 A G forward           DBSNP:rs4326897      
intronic 20046408 A G forward           DBSNP:rs9509285      
intronic 20048488 C G forward           DBSNP:rs12381080      
intronic 20049047 C T forward           DBSNP:rs7400326      
intronic 20049436 A G forward           DBSNP:rs9579894      
intronic 20049811 C G forward           DBSNP:rs9579895      
intronic 20049923 A G forward           DBSNP:rs7491182      
intronic 20050204 A G forward           DBSNP:rs12561411      
intronic 20050233 A G forward           DBSNP:rs9579896      
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 20050781 C T forward           DBSNP:rs4531585      
intronic 20050987 C T forward           DBSNP:rs9579898      
intronic 20052548 C T forward           DBSNP:rs7331590      
intronic 20052867 C T forward           DBSNP:rs7332243      
intronic 20052911 C G forward           DBSNP:rs7325293      
intronic 20053900 G T forward           DBSNP:rs9509286      
intronic 20053946 C T forward           DBSNP:rs7996648      
intronic 20053985 C G forward           DBSNP:rs7333367      
intronic 20054139 A G forward           DBSNP:rs7339069      
intronic 20054503 C T forward           DBSNP:rs9579899      
intronic 20054740 A G forward           DBSNP:rs9506522      
intronic 20054742 A G forward           DBSNP:rs9509288      
intronic 20054746 C G forward           DBSNP:rs9579900      
intronic 20054999 A G forward           DBSNP:rs9509289      
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 20055379 C T forward           DBSNP:rs6490596      
intronic 20055486 A T forward           DBSNP:rs7490778      
intronic 20055771 A G forward           DBSNP:rs7489934      
intronic 20055915 C G forward           DBSNP:rs7489988      
intronic 20056815 A G forward           DBSNP:rs9579902      
intronic 20057000 A G forward           DBSNP:rs7998500      
intronic 20057110 C T forward           DBSNP:rs7998003      
intronic 20057200 A G forward           DBSNP:rs9552248      
intronic 20057455 A G forward           DBSNP:rs9509290      
intronic 20057558 A G forward           DBSNP:rs7334222      
intronic 20058492 A C forward           DBSNP:rs9506523      
intronic 20058703 A G forward           DBSNP:rs7995035      
intronic 20059479 C G forward           DBSNP:rs6490597      
intronic 20059593 C T forward           DBSNP:rs9578304      
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 20060072 A G forward           DBSNP:rs9579903      
intronic 20060509 C G forward           DBSNP:rs2149771      
intronic 20060940 C G forward           DBSNP:rs9315735      
intronic 20061073 A G forward           DBSNP:rs17054108      
intronic 20062250 G T forward           DBSNP:rs2497472      
intronic 20062690 C T forward           DBSNP:rs6490598      
intronic 20062732 G T forward           DBSNP:rs17054149      
intronic 20064108 A G forward           DBSNP:rs2149770      
intronic 20064887 A G forward           DBSNP:rs7322752      
intronic 20065610 A G forward           DBSNP:rs3002161      
intronic 20065614 A G forward           DBSNP:rs9509291      
intronic 20065842 A G forward           DBSNP:rs7331335      
intronic 20066034 A T forward           DBSNP:rs9506524      
intronic 20066125 A G forward           DBSNP:rs2497473      
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 20067348 A G forward           DBSNP:rs9509292      
intronic 20067695 C T forward           DBSNP:rs2497474      
intronic 20068590 C T forward           DBSNP:rs2987990      
intronic 20068669 A G forward           DBSNP:rs4769122      
intronic 20069438 A C forward           DBSNP:rs17054219      
intronic 20069621 C T forward           DBSNP:rs3002162      
intronic 20069768 A G forward           DBSNP:rs7986514      
intronic 20069785 A G forward           DBSNP:rs3002163      
intronic 20069808 A G forward           DBSNP:rs3002164      
intronic 20069832 A G forward           DBSNP:rs4770060      
intronic 20069872 A G forward           DBSNP:rs7320853      
intronic 20069891 A T forward           DBSNP:rs11617183      
intronic 20069893 A T forward           DBSNP:rs11617184      
intronic 20069910 A T forward           DBSNP:rs4770061      
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 20070412 A C reverse           DBSNP:rs2480431      
intronic 20070604 C G forward           DBSNP:rs3002166      
intronic 20071826 A G forward           DBSNP:rs2497475      
intronic 20071926 C T reverse           DBSNP:rs3825444      
intronic 20072053 C T forward           DBSNP:rs9550663      
intronic 20072645 A T forward           DBSNP:rs9509294      
intronic 20072645 A T forward           DBSNP:rs11147777      
intronic 20073205 A C forward           DBSNP:rs12584604      
intronic 20073217 C G forward           DBSNP:rs9552250      
intronic 20073437 A G forward           DBSNP:rs3002167      
intronic 20074369 A G forward           DBSNP:rs12865114      
intronic 20074518 A T forward           DBSNP:rs9579906      
intronic 20074624 A G forward           DBSNP:rs9509295      
intronic 20074884 C T forward           DBSNP:rs2497476      
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 20074975 C T forward           DBSNP:rs9509296      
intronic 20074975 C T forward           DBSNP:rs11147779      
intronic 20075369 C T forward           DBSNP:rs3002168      
intronic 20076939 C T forward           DBSNP:rs9509297      
intronic 20078247 A G forward           DBSNP:rs9552251      
intronic 20078340 C G forward           DBSNP:rs3002169      
intronic 20079659 A C forward           DBSNP:rs2987986      
intronic 20080816 C T forward           DBSNP:rs2987987      
intronic 20080862 C G forward           DBSNP:rs1411037      
intronic 20081104 A G forward           DBSNP:rs3002170      
intronic 20081265 C T forward           DBSNP:rs7982753      
intronic 20081454 A G forward           DBSNP:rs9509298      
intronic 20081737 C G forward           DBSNP:rs9509299      
intronic 20081781 G T forward           DBSNP:rs3002171      
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 20082475 C T forward           DBSNP:rs9578305      
intronic 20083226 A T forward           DBSNP:rs12865793      
intronic 20083227 C T forward           DBSNP:rs12869749      
intronic 20083301 A C forward           DBSNP:rs9509300      
intronic 20084008 G T forward           DBSNP:rs9506527      
intronic 20084112 A G forward           DBSNP:rs4581557      
intronic 20085005 C T forward           DBSNP:rs9285140      
intronic 20086339 A G forward           DBSNP:rs9506528      
intronic 20086851 C T forward           DBSNP:rs9579909      
intronic 20086855 C T forward           DBSNP:rs7998361      
intronic 20087326 C T forward           DBSNP:rs17054479      
intronic 20088223 A C forward           DBSNP:rs2987988      
intronic 20088234 A T forward           DBSNP:rs3002172      
intronic 20089878 A G forward           DBSNP:rs9509301      
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 20089978 G T forward           DBSNP:rs9285142      
intronic 20090323 C T forward           DBSNP:rs3002173      
intronic 20090328 A G forward           DBSNP:rs9509302      
intronic 20090618 C G forward           DBSNP:rs9805425      
intronic 20090905 C T forward           DBSNP:rs9552252      
intronic 20091088 A G reverse           DBSNP:rs2442458      
intronic 20091961 C T forward           DBSNP:rs7991142      
intronic 20092919 C T forward           DBSNP:rs2497478      
intronic 20092948 A G forward           DBSNP:rs9509303      
intronic 20093265 C T forward           DBSNP:rs9509304      
intronic 20093666 A T forward           DBSNP:rs2497479      
intronic 20094126 A T forward           DBSNP:rs7328104      
intronic 20094407 G T forward           DBSNP:rs2497481      
intronic 20094679 A G forward           DBSNP:rs9509305      
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 20095291 A G forward           DBSNP:rs2314234      
intronic 20096263 C T forward           DBSNP:rs2244137      
intronic 20096465 G T forward           DBSNP:rs2497483      
intronic 20096597 C T reverse           DBSNP:rs2480429      
intronic 20097265 C T forward           DBSNP:rs2497484      
intronic 20097594 A G forward           DBSNP:rs2497485      
intronic 20098222 A T forward           DBSNP:rs9509306      
intronic 20098260 C T forward           DBSNP:rs2497486      
intronic 20098271 C G forward           DBSNP:rs2497487      
intronic 20098349 C T reverse           DBSNP:rs2480428      
intronic 20098401 A G forward           DBSNP:rs2442444      
intronic 20098402 G T forward           DBSNP:rs12874476      
intronic 20099166 C T forward           DBSNP:rs2442445      
intronic 20099207 A G forward           DBSNP:rs12873775      
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 20099476 A T forward           DBSNP:rs2497488      
intronic 20099708 C T reverse           DBSNP:rs2480427      
intronic 20100350 C T forward           DBSNP:rs9552253      
intronic 20100439 C T forward           DBSNP:rs17250686      
intronic 20100850 A G forward           DBSNP:rs9506529      
intronic 20101526 A G forward           DBSNP:rs17054740      
intronic 20101611 C G forward           DBSNP:rs1329518      
intronic 20102099 G T forward           DBSNP:rs12876226      
intronic 20102107 C T forward           DBSNP:rs2442447      
intronic 20102373 C T forward           DBSNP:rs2442448      
intronic 20103046 C T forward           DBSNP:rs2497489      
intronic 20103140 A T forward           DBSNP:rs1329519      
intronic 20103619 G T forward           DBSNP:rs2314235      
intronic 20104037 A C reverse           DBSNP:rs2480426      
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 20104660 C G forward           DBSNP:rs9509308      
intronic 20104911 A G forward           DBSNP:rs2442449      
intronic 20105148 G T forward           DBSNP:rs17054778      
intronic 20105272 C T forward           DBSNP:rs2442450      
intronic 20106014 C T forward           DBSNP:rs2497490      
intronic 20106189 G T forward           DBSNP:rs6490600      
intronic 20106342 A G forward           DBSNP:rs1536869      
intronic 20106529 C T forward           DBSNP:rs9509309      
intronic 20106608 C G forward           DBSNP:rs9509310      
intronic 20106755 A G forward           DBSNP:rs7985869      
intronic 20107127 G T forward           DBSNP:rs9579910      
intronic 20107512 A G forward           DBSNP:rs7326068      
intronic 20107637 A G forward           DBSNP:rs9509311      
intronic 20107711 A C reverse           DBSNP:rs2480425      
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 20108031 G T reverse           DBSNP:rs2480424      
intronic 20108336 A G forward           DBSNP:rs11619282      
intronic 20108915 A G forward           DBSNP:rs1556121      
intronic 20108934 C T forward           DBSNP:rs7987104      
intronic 20109576 C G forward           DBSNP:rs9579911      
intronic 20109866 A T forward           DBSNP:rs2442451      
intronic 20109898 G T reverse           DBSNP:rs2480423      
intronic 20109911 C G forward           DBSNP:rs9579912      
intronic 20109999 C T forward           DBSNP:rs2442452      
intronic 20110032 C T forward           DBSNP:rs2497491      
intronic 20111035 C T forward           DBSNP:rs2497492      
intronic 20111753 A T forward           DBSNP:rs2497493      
intronic 20112460 C T forward           DBSNP:rs12853897      
intronic 20112502 A G forward           DBSNP:rs12877309      
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 20112528 C T forward           DBSNP:rs12854290      
intronic 20112529 A G forward           DBSNP:rs12855748      
intronic 20112554 C T forward           DBSNP:rs12864899      
intronic 20112556 C T forward           DBSNP:rs12864900      
intronic 20112601 A G forward           DBSNP:rs2497494      
intronic 20112943 C T forward           DBSNP:rs7332034      
intronic 20113379 A G forward           DBSNP:rs7332496      
intronic 20113804 A C reverse           DBSNP:rs10507294      
intronic 20114614 A G forward           DBSNP:rs2497495      
intronic 20114618 C G forward           DBSNP:rs2442454      
intronic 20114850 C T forward           DBSNP:rs1052209      
intronic 20114922 A T forward           DBSNP:rs1052210      
intronic 20116087 A G reverse           DBSNP:rs2442460      
intronic 20116259 A C forward           DBSNP:rs9579913      
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 20117353 C T forward           DBSNP:rs9509313      
intronic 20117369 C G forward           DBSNP:rs9550664      
intronic 20118882 C T forward           DBSNP:rs2497497      
intronic 20119014 A G reverse           DBSNP:rs2442459      
intronic 20119750 C T forward           DBSNP:rs1999141      
intronic 20119766 G T forward           DBSNP:rs11618818      
intronic 20120419 C T forward           DBSNP:rs2497498      
intronic 20120656 A C forward           DBSNP:rs9579914      
intronic 20121187 A G forward           DBSNP:rs2497499      
intronic 20121485 A C forward           DBSNP:rs9509315      
intronic 20122410 A T forward           DBSNP:rs11619488      
intronic 20122501 A G forward           DBSNP:rs11620505      
intronic 20123265 C T forward           DBSNP:rs12863517      
intronic 20124845 C T forward           DBSNP:rs4769124      
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 20125657 A G forward           DBSNP:rs9506530      
intronic 20126975 C G forward           DBSNP:rs4769125      
intronic 20127488 G T forward           DBSNP:rs9509316      
intronic 20127627 C T forward           DBSNP:rs9509317      
intronic 20127628 C T forward           DBSNP:rs9509318      
intronic 20128926 A C forward           DBSNP:rs17055077      
intronic 20128970 C T forward           DBSNP:rs9509319      
intronic 20130384 C T forward           DBSNP:rs9509320      
intronic 20130392 C T forward           DBSNP:rs2314236      
intronic 20130398 A G forward           DBSNP:rs2314237      
intronic 20130683 A G forward           DBSNP:rs2314238      
intronic 20130750 C T forward           DBSNP:rs2314239      
intronic 20130983 C T forward           DBSNP:rs9506531      
intronic 20131538 C T forward           DBSNP:rs9509322      
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 20132753 A G forward           DBSNP:rs9506532      
intronic 20133688 A G forward           DBSNP:rs8002232      
intronic 20133984 A C forward           DBSNP:rs8002138      
intronic 20135209 A C forward           DBSNP:rs7991727      
intronic 20135288 C G forward           DBSNP:rs9509324      
intronic 20135413 A G forward           DBSNP:rs17055251      
intronic 20137174 C T forward           DBSNP:rs9550665      
intronic 20137174 C T forward           DBSNP:rs11147807      
intronic 20137941 C T forward           DBSNP:rs7983020      
intronic 20138230 A C forward           DBSNP:rs17785377      
intronic 20138531 C G forward           DBSNP:rs7998230      
intronic 20138947 C T forward           DBSNP:rs8000267      
intronic 20139147 A G forward           DBSNP:rs7981691      
intronic 20139823 C T forward           DBSNP:rs9552255      
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 20140137 G T forward           DBSNP:rs4770065      
intronic 20140145 A G forward           DBSNP:rs9578306      
intronic 20141451 C T forward           DBSNP:rs17055401      
intronic 20142543 C T forward           DBSNP:rs8002408      
intronic 20142595 C T forward           DBSNP:rs8002443      
intronic 20142691 C T forward           DBSNP:rs9579919      
intronic 20142692 A G forward           DBSNP:rs9579920      
intronic 20142715 G T forward           DBSNP:rs7986042      
intronic 20142752 A G forward           DBSNP:rs9579921      
intronic 20143468 C T forward           DBSNP:rs9506533      
intronic 20143845 A G forward           DBSNP:rs9509326      
intronic 20143897 A G forward           DBSNP:rs6490601      
intronic 20144273 C T forward           DBSNP:rs7334480      
intronic 20145165 C T forward           DBSNP:rs9506534      
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 20145901 C T forward           DBSNP:rs7319201      
intronic 20145916 A C forward           DBSNP:rs7999803      
intronic 20146134 C G forward           DBSNP:rs7318542      
intronic 20146143 C T forward           DBSNP:rs7982574      
intronic 20146260 C G reverse           DBSNP:rs1411039      
intronic 20146431 C T reverse           DBSNP:rs1411038      
intronic 20146481 C T forward           DBSNP:rs7319149      
intronic 20146863 A T forward           DBSNP:rs7984491      
intronic 20146865 A T forward           DBSNP:rs9509328      
intronic 20146946 A G forward           DBSNP:rs7318727      
intronic 20147011 C T forward           DBSNP:rs7324762      
intronic 20147050 C T forward           DBSNP:rs7988453      
intronic 20147271 A C forward           DBSNP:rs7325875      
intronic 20148073 C T forward           DBSNP:rs7319891      
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 20148738 A G forward           DBSNP:rs12430213      
intronic 20148945 G T forward           DBSNP:rs9552256      
intronic 20149212 C T forward           DBSNP:rs12856763      
intronic 20149235 C T forward           DBSNP:rs7995773      
intronic 20150258 C T forward           DBSNP:rs4770066      
intronic 20150382 A T forward           DBSNP:rs4769126      
intronic 20150492 A G forward           DBSNP:rs4770067      
intronic 20150689 C G forward           DBSNP:rs10870741      
intronic 20151143 A G forward           DBSNP:rs11620117      
intronic 20151489 A G forward           DBSNP:rs11620137      
intronic 20151566 C T forward           DBSNP:rs11618020      
intronic 20151758 C T forward           DBSNP:rs9552257      
intronic 20152383 A G forward           DBSNP:rs11843841      
intronic 20152518 A G forward           DBSNP:rs9509330      
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 20153042 A G forward           DBSNP:rs7993506      
intronic 20153549 A G reverse           DBSNP:rs2094699      
intronic 20153689 C T reverse           DBSNP:rs2094698      
intronic 20153891 G T forward           DBSNP:rs12427635      
intronic 20153998 C G forward           DBSNP:rs3969100      
intronic 20154507 A G forward           DBSNP:rs9552258      
intronic 20154616 A T forward           DBSNP:rs9552259      
intronic 20155331 A G forward           DBSNP:rs7982682      
intronic 20155791 C T forward           DBSNP:rs7984715      
intronic 20155881 A G forward           DBSNP:rs9579922      
intronic 20155929 A T forward           DBSNP:rs9509332      
intronic 20156328 C T forward           DBSNP:rs11838795      
intronic 20156558 C T forward           DBSNP:rs11147813      
intronic 20156698 C G forward           DBSNP:rs10870742      
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 20156760 A G forward           DBSNP:rs10747123      
intronic 20156858 A T forward           DBSNP:rs11616340      
intronic 20157337 A G forward           DBSNP:rs7333812      
intronic 20157368 A T forward           DBSNP:rs7333838      
intronic 20157464 C T forward           DBSNP:rs7333306      
intronic 20157712 C T forward           DBSNP:rs7139641      
intronic 20157722 A G forward           DBSNP:rs7332493      
intronic 20159173 A C forward           DBSNP:rs7335070      
intronic 20159187 A C forward           DBSNP:rs9552260      
intronic 20159188 G T reverse           DBSNP:rs2480434      
intronic 20159195 A T forward           DBSNP:rs2442443      
intronic 20159267 A G reverse           DBSNP:rs10507293      
intronic 20159301 A G forward           DBSNP:rs9579923      
intronic 20159313 A G forward           DBSNP:rs9579924      
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 20161439 C T forward           DBSNP:rs7330396      
intronic 20161624 A C forward           DBSNP:rs17056095      
intronic 20161758 G T forward           DBSNP:rs1065564      
intronic 20161981 A G forward           DBSNP:rs17056099      
intronic 20162565 C G forward           DBSNP:rs17056106      
untranslated 20039482 A G forward           DBSNP:rs11618165      
untranslated 20039552 C T forward           DBSNP:rs9550662      
untranslated 20039822 A G forward           DBSNP:rs9552244      
untranslated 20163406 A T reverse           DBSNP:rs11550621      
intronic                        

Last updated 28-Aug-2006

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