Hedgehog Signaling Pathway Database
 
Human Mutations - Btrc
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
          V > I 371 N   DBSNP:rs7088165      
          A > S 507 N   DBSNP:rs4151060      
          P > H 556 N   DBSNP:rs2270439      
          L > L 351 S   DBSNP:rs4151059      
          A > A 487 S   DBSNP:rs11191040      
intronic 103105880 A G forward           DBSNP:rs12256876      
intronic 103106069 C T forward           DBSNP:rs11190957      
intronic 103107643 A G forward           DBSNP:rs10883618      
intronic 103108102 G T forward           DBSNP:rs11190958      
intronic 103108650 A G forward           DBSNP:rs10883619      
intronic 103108743 A G forward           DBSNP:rs7911978      
intronic 103108890 A C forward           DBSNP:rs10883620      
intronic 103109111 C G forward           DBSNP:rs10883621      
intronic 103109168 C T forward           DBSNP:rs10883622      
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 103109991 A G forward           DBSNP:rs10883624      
intronic 103110137 A T forward           DBSNP:rs12569900      
intronic 103111320 C G forward           DBSNP:rs11190959      
intronic 103111579 C T forward           DBSNP:rs11190960      
intronic 103111939 C T forward           DBSNP:rs12416079      
intronic 103112212 A G forward           DBSNP:rs11190961      
intronic 103112388 C T forward           DBSNP:rs10883625      
intronic 103112619 A C forward           DBSNP:rs12412275      
intronic 103113214 G T forward           DBSNP:rs11190962      
intronic 103113215 C T forward           DBSNP:rs11190963      
intronic 103114447 A C forward           DBSNP:rs7090670      
intronic 103114476 C G forward           DBSNP:rs7091024      
intronic 103114595 A G forward           DBSNP:rs10786631      
intronic 103114784 A T forward           DBSNP:rs12411783      
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 103114895 A C forward           DBSNP:rs7914925      
intronic 103115532 A G forward           DBSNP:rs11594460      
intronic 103116527 A T forward           DBSNP:rs12219114      
intronic 103116529 A T forward           DBSNP:rs12219115      
intronic 103116542 C T forward           DBSNP:rs10786632      
intronic 103116558 A T forward           DBSNP:rs12217999      
intronic 103116567 A T forward           DBSNP:rs12218007      
intronic 103116568 A T forward           DBSNP:rs12219124      
intronic 103116577 A T forward           DBSNP:rs11190964      
intronic 103116581 A G forward           DBSNP:rs11190965      
intronic 103116588 A T forward           DBSNP:rs11190966      
intronic 103116591 A G forward           DBSNP:rs11190967      
intronic 103116598 A T forward           DBSNP:rs11190968      
intronic 103116616 A T forward           DBSNP:rs12413769      
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 103116627 A T forward           DBSNP:rs12219126      
intronic 103116635 A T forward           DBSNP:rs12218009      
intronic 103116637 A T forward           DBSNP:rs12219127      
intronic 103116645 A T forward           DBSNP:rs12218010      
intronic 103116646 A T forward           DBSNP:rs12412530      
intronic 103116647 A T forward           DBSNP:rs12219129      
intronic 103116665 A T forward           DBSNP:rs12218014      
intronic 103116667 A T forward           DBSNP:rs12219140      
intronic 103116675 A T forward           DBSNP:rs12218015      
intronic 103116676 A T forward           DBSNP:rs11593129      
intronic 103116677 A T forward           DBSNP:rs12219141      
intronic 103116685 A T forward           DBSNP:rs12218016      
intronic 103116687 A T forward           DBSNP:rs12219142      
intronic 103116696 A T forward           DBSNP:rs12218017      
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 103116827 A T forward           DBSNP:rs10883626      
intronic 103117007 A G forward           DBSNP:rs12254023      
intronic 103117794 A G forward           DBSNP:rs11190969      
intronic 103118322 A G forward           DBSNP:rs11190970      
intronic 103118393 A G forward           DBSNP:rs11190971      
intronic 103122186 A G forward           DBSNP:rs11190973      
intronic 103122414 A C forward           DBSNP:rs12253645      
intronic 103123239 C T forward           DBSNP:rs10450405      
intronic 103123492 A G forward           DBSNP:rs11190974      
intronic 103123496 C T forward           DBSNP:rs7916217      
intronic 103123969 C T forward           DBSNP:rs7916912      
intronic 103124183 A G forward           DBSNP:rs12770015      
intronic 103124273 G T forward           DBSNP:rs12411848      
intronic 103124623 C T forward           DBSNP:rs17687831      
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 103125500 A G forward           DBSNP:rs17760544      
intronic 103125567 C T forward           DBSNP:rs12782354      
intronic 103125888 C T forward           DBSNP:rs10883628      
intronic 103126030 C T forward           DBSNP:rs10883629      
intronic 103126744 G T forward           DBSNP:rs11190975      
intronic 103127333 G T forward           DBSNP:rs10883630      
intronic 103128605 A G forward           DBSNP:rs17760556      
intronic 103128809 A T forward           DBSNP:rs12260884      
intronic 103128885 A G forward           DBSNP:rs10883631      
intronic 103129209 C T forward           DBSNP:rs17113964      
intronic 103129435 C T forward           DBSNP:rs959754      
intronic 103130648 A G forward           DBSNP:rs7899334      
intronic 103130718 C G forward           DBSNP:rs7899747      
intronic 103130958 C T forward           DBSNP:rs7916550      
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 103131710 C T forward           DBSNP:rs12764570      
intronic 103131755 A C forward           DBSNP:rs10883632      
intronic 103131893 G T forward           DBSNP:rs11190976      
intronic 103132035 A G forward           DBSNP:rs11190977      
intronic 103132699 A C forward           DBSNP:rs10748810      
intronic 103133129 A G forward           DBSNP:rs12415936      
intronic 103133314 A C forward           DBSNP:rs10732790      
intronic 103133351 A G forward           DBSNP:rs10736153      
intronic 103134021 C T forward           DBSNP:rs11190978      
intronic 103134189 G T forward           DBSNP:rs7921510      
intronic 103134971 A G forward           DBSNP:rs10786633      
intronic 103135050 C T forward           DBSNP:rs12784425      
intronic 103135077 A G forward           DBSNP:rs10883633      
intronic 103135490 A T forward           DBSNP:rs7072719      
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 103136318 A G forward           DBSNP:rs720357      
intronic 103136360 A G forward           DBSNP:rs7074011      
intronic 103137149 A G forward           DBSNP:rs4917939      
intronic 103137476 A G forward           DBSNP:rs11190979      
intronic 103137510 C T forward           DBSNP:rs6584421      
intronic 103137515 A C forward           DBSNP:rs11190980      
intronic 103137621 A G forward           DBSNP:rs4434932      
intronic 103137966 C T forward           DBSNP:rs11190981      
intronic 103138198 C G forward           DBSNP:rs10748811      
intronic 103138760 C T forward           DBSNP:rs11597792      
intronic 103138864 G T forward           DBSNP:rs12184385      
intronic 103139115 A G forward           DBSNP:rs10883634      
intronic 103139238 G T forward           DBSNP:rs12184346      
intronic 103139507 A G forward           DBSNP:rs11190982      
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 103140512 A G forward           DBSNP:rs11190984      
intronic 103141772 A G forward           DBSNP:rs11190985      
intronic 103142357 G T forward           DBSNP:rs11190986      
intronic 103142405 A C forward           DBSNP:rs11190987      
intronic 103143411 C G forward           DBSNP:rs11190988      
intronic 103143435 A T forward           DBSNP:rs10883635      
intronic 103143536 C T forward           DBSNP:rs7910015      
intronic 103144047 C T forward           DBSNP:rs10509749      
intronic 103144048 A G forward           DBSNP:rs4919541      
intronic 103144386 A C forward           DBSNP:rs11190989      
intronic 103144906 A C forward           DBSNP:rs7091124      
intronic 103146406 C G forward           DBSNP:rs17760784      
intronic 103146483 A G forward           DBSNP:rs11190990      
intronic 103146722 G T forward           DBSNP:rs10883636      
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 103148142 C T forward           DBSNP:rs11190992      
intronic 103148181 C T forward           DBSNP:rs7897238      
intronic 103148414 C T forward           DBSNP:rs10883637      
intronic 103148998 A G forward           DBSNP:rs9645568      
intronic 103149120 C G forward           DBSNP:rs11190993      
intronic 103149384 C T forward           DBSNP:rs10883638      
intronic 103149559 C T forward           DBSNP:rs7905291      
intronic 103150798 A C forward           DBSNP:rs7085932      
intronic 103150910 C G forward           DBSNP:rs11818964      
intronic 103151383 C T forward           DBSNP:rs9645544      
intronic 103151663 A G forward           DBSNP:rs12219575      
intronic 103151907 C G forward           DBSNP:rs12414526      
intronic 103152320 C T forward           DBSNP:rs6584422      
intronic 103152616 A G forward           DBSNP:rs12776008      
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 103153597 C T forward           DBSNP:rs12269500      
intronic 103153737 A G forward           DBSNP:rs10883639      
intronic 103153777 A T forward           DBSNP:rs7909215      
intronic 103153922 C T forward           DBSNP:rs10883640      
intronic 103153967 C T forward           DBSNP:rs10883641      
intronic 103154332 G T forward           DBSNP:rs10786634      
intronic 103154465 C G forward           DBSNP:rs12765741      
intronic 103156268 G T forward           DBSNP:rs12775338      
intronic 103156270 C T forward           DBSNP:rs12775339      
intronic 103157270 A G forward           DBSNP:rs7923392      
intronic 103157544 A G forward           DBSNP:rs12414058      
intronic 103158348 C T forward           DBSNP:rs11190995      
intronic 103158479 C G forward           DBSNP:rs11190996      
intronic 103159862 G T forward           DBSNP:rs4919542      
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 103160457 A T forward           DBSNP:rs11190997      
intronic 103160828 C T forward           DBSNP:rs12784510      
intronic 103161180 A G forward           DBSNP:rs10883642      
intronic 103162940 C T forward           DBSNP:rs11190998      
intronic 103163495 A T forward           DBSNP:rs10883643      
intronic 103163770 C T forward           DBSNP:rs7898782      
intronic 103163786 A G forward           DBSNP:rs11591788      
intronic 103164726 A T forward           DBSNP:rs11190999      
intronic 103164912 C G forward           DBSNP:rs7079033      
intronic 103165114 G T forward           DBSNP:rs10883644      
intronic 103165206 C T forward           DBSNP:rs10883645      
intronic 103165238 G T forward           DBSNP:rs6421336      
intronic 103165298 G T forward           DBSNP:rs11191000      
intronic 103165705 C T forward           DBSNP:rs10883646      
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 103167193 C T forward           DBSNP:rs10883647      
intronic 103167318 A G forward           DBSNP:rs12263352      
intronic 103167592 C T forward           DBSNP:rs12258171      
intronic 103167983 C T forward           DBSNP:rs11191001      
intronic 103168123 A C forward           DBSNP:rs12770724      
intronic 103168995 C T forward           DBSNP:rs12777717      
intronic 103169296 C T forward           DBSNP:rs11191002      
intronic 103170326 A G forward           DBSNP:rs11191003      
intronic 103172312 A T forward           DBSNP:rs9664249      
intronic 103172384 A G forward           DBSNP:rs11191004      
intronic 103172590 C G forward           DBSNP:rs10159713      
intronic 103173217 C T forward           DBSNP:rs10786635      
intronic 103173702 C T forward           DBSNP:rs7904809      
intronic 103174287 A G forward           DBSNP:rs10159775      
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 103175272 A T forward           DBSNP:rs12573745      
intronic 103176547 G T forward           DBSNP:rs12772314      
intronic 103176553 A G forward           DBSNP:rs12771171      
intronic 103176559 A G forward           DBSNP:rs12771174      
intronic 103176576 C T forward           DBSNP:rs10883649      
intronic 103176828 A G forward           DBSNP:rs7901883      
intronic 103177143 G T forward           DBSNP:rs7902379      
intronic 103177172 C T forward           DBSNP:rs4917940      
intronic 103177277 C T forward           DBSNP:rs11191005      
intronic 103177296 A T forward           DBSNP:rs11191006      
intronic 103177364 A T forward           DBSNP:rs11191007      
intronic 103177649 C G forward           DBSNP:rs11191008      
intronic 103177911 A G forward           DBSNP:rs7082055      
intronic 103178018 C T forward           DBSNP:rs7922809      
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 103179063 A G forward           DBSNP:rs11191009      
intronic 103179228 G T forward           DBSNP:rs10883650      
intronic 103180818 C T forward           DBSNP:rs12776196      
intronic 103180985 A G forward           DBSNP:rs4919544      
intronic 103181063 A G forward           DBSNP:rs6584423      
intronic 103181114 A G forward           DBSNP:rs4919545      
intronic 103181290 C T forward           DBSNP:rs7096737      
intronic 103181798 C T forward           DBSNP:rs12770845      
intronic 103182210 A G forward           DBSNP:rs7900797      
intronic 103182464 A G forward           DBSNP:rs10786636      
intronic 103184085 G T forward           DBSNP:rs12261987      
intronic 103185027 C T forward           DBSNP:rs10883651      
intronic 103187709 C T forward           DBSNP:rs12248356      
intronic 103187945 A G forward           DBSNP:rs4615960      
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 103188044 A C forward           DBSNP:rs11191011      
intronic 103188616 A T forward           DBSNP:rs12250375      
intronic 103188632 C T forward           DBSNP:rs4612729      
intronic 103189208 A G forward           DBSNP:rs7900462      
intronic 103189422 A C forward           DBSNP:rs7900747      
intronic 103189897 C T forward           DBSNP:rs11191012      
intronic 103190384 A G forward           DBSNP:rs10883652      
intronic 103190418 A G forward           DBSNP:rs10883653      
intronic 103190539 C G forward           DBSNP:rs11191013      
intronic 103190598 C T forward           DBSNP:rs10883654      
intronic 103190787 A C forward           DBSNP:rs11191014      
intronic 103190791 A G forward           DBSNP:rs10883655      
intronic 103191253 A C forward           DBSNP:rs7909404      
intronic 103191572 C G forward           DBSNP:rs7097657      
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 103191875 A T forward           DBSNP:rs7097973      
intronic 103192029 C G forward           DBSNP:rs4919547      
intronic 103192031 C G forward           DBSNP:rs7098492      
intronic 103192430 A G forward           DBSNP:rs11191015      
intronic 103194126 A G forward           DBSNP:rs7898980      
intronic 103195262 A G forward           DBSNP:rs4451650      
intronic 103195332 C T forward           DBSNP:rs17688453      
intronic 103196105 A G forward           DBSNP:rs9787495      
intronic 103196555 C T forward           DBSNP:rs12248165      
intronic 103197170 A T forward           DBSNP:rs12765602      
intronic 103198677 A G forward           DBSNP:rs11191016      
intronic 103199307 C T forward           DBSNP:rs7342129      
intronic 103199315 A C forward           DBSNP:rs4919548      
intronic 103199326 A G forward           DBSNP:rs7098584      
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 103200145 C G forward           DBSNP:rs10883656      
intronic 103200994 C T forward           DBSNP:rs4485040      
intronic 103203554 A G forward           DBSNP:rs11191017      
intronic 103203659 C G forward           DBSNP:rs10883657      
intronic 103203770 C G forward           DBSNP:rs10883658      
intronic 103204888 C G forward           DBSNP:rs11191018      
intronic 103205860 A G forward           DBSNP:rs7897062      
intronic 103205860 A G forward           DBSNP:rs9420818      
intronic 103205880 C T forward           DBSNP:rs7913802      
intronic 103205880 C T forward           DBSNP:rs9420819      
intronic 103207136 A G forward           DBSNP:rs9419907      
intronic 103208182 C G forward           DBSNP:rs7082104      
intronic 103208627 A G forward           DBSNP:rs9419908      
intronic 103209675 C G forward           DBSNP:rs12573058      
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 103210415 A G forward           DBSNP:rs4919549      
intronic 103210672 C T forward           DBSNP:rs4431957      
intronic 103210783 A G forward           DBSNP:rs4387286      
intronic 103211112 G T forward           DBSNP:rs4244344      
intronic 103211367 A G forward           DBSNP:rs12266978      
intronic 103213086 C T forward           DBSNP:rs9419909      
intronic 103213665 G T forward           DBSNP:rs9420821      
intronic 103214287 A C forward           DBSNP:rs11191019      
intronic 103214288 A C forward           DBSNP:rs11191020      
intronic 103214334 C T forward           DBSNP:rs4485041      
intronic 103215334 C T forward           DBSNP:rs12242432      
intronic 103215448 A G forward           DBSNP:rs9419910      
intronic 103215461 A C forward           DBSNP:rs7917449      
intronic 103216793 A C forward           DBSNP:rs9420822      
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 103217301 A G forward           DBSNP:rs12416466      
intronic 103217375 C G forward           DBSNP:rs9420823      
intronic 103218826 C T forward           DBSNP:rs10786637      
intronic 103219497 C T forward           DBSNP:rs4382828      
intronic 103219514 C T forward           DBSNP:rs4297403      
intronic 103219799 A G forward           DBSNP:rs9419911      
intronic 103220037 C G forward           DBSNP:rs4639864      
intronic 103221631 A G forward           DBSNP:rs11191021      
intronic 103222761 A G forward           DBSNP:rs11191022      
intronic 103224043 A G forward           DBSNP:rs3923214      
intronic 103224383 A G reverse           DBSNP:rs4130785      
intronic 103224829 C T forward           DBSNP:rs11592287      
intronic 103225700 A T forward           DBSNP:rs12260783      
intronic 103225748 A G forward           DBSNP:rs7476474      
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 103226444 A G forward           DBSNP:rs9420825      
intronic 103227126 C G forward           DBSNP:rs7477025      
intronic 103227312 C T forward           DBSNP:rs9420826      
intronic 103228369 C T forward           DBSNP:rs11191023      
intronic 103228371 C T forward           DBSNP:rs11191024      
intronic 103228433 C T forward           DBSNP:rs11191025      
intronic 103228482 C T forward           DBSNP:rs11191026      
intronic 103228526 C T forward           DBSNP:rs11191027      
intronic 103228611 C T forward           DBSNP:rs9419912      
intronic 103228614 A T forward           DBSNP:rs4301726      
intronic 103230944 C G forward           DBSNP:rs12766950      
intronic 103231840 C T forward           DBSNP:rs9420827      
intronic 103232263 C T forward           DBSNP:rs9420828      
intronic 103232522 A C forward           DBSNP:rs11191028      
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 103234466 A C forward           DBSNP:rs3936104      
intronic 103235228 A G forward           DBSNP:rs7474565      
intronic 103235351 C G forward           DBSNP:rs4436485      
intronic 103236566 A G forward           DBSNP:rs7901355      
intronic 103236682 A C forward           DBSNP:rs7901265      
intronic 103237198 A G forward           DBSNP:rs9419913      
intronic 103238567 A G forward           DBSNP:rs11597599      
intronic 103239026 A G forward           DBSNP:rs6584424      
intronic 103242379 C T forward           DBSNP:rs9420829      
intronic 103242428 A G forward           DBSNP:rs9420830      
intronic 103242487 A G forward           DBSNP:rs10883659      
intronic 103243355 A G forward           DBSNP:rs17767124      
intronic 103244082 A G forward           DBSNP:rs12772367      
intronic 103244110 C T forward           DBSNP:rs12217598      
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 103244130 A T forward           DBSNP:rs12771904      
intronic 103244153 C G forward           DBSNP:rs12772084      
intronic 103244357 C T forward           DBSNP:rs4429005      
intronic 103244839 C T forward           DBSNP:rs9419914      
intronic 103245400 A T forward           DBSNP:rs10786638      
intronic 103246535 A G forward           DBSNP:rs9420831      
intronic 103246927 C T forward           DBSNP:rs9420832      
intronic 103247123 A G forward           DBSNP:rs9420833      
intronic 103247155 G T forward           DBSNP:rs9420834      
intronic 103248205 A G forward           DBSNP:rs7896045      
intronic 103248238 C T forward           DBSNP:rs9419915      
intronic 103248369 A G forward           DBSNP:rs9419916      
intronic 103248414 A G forward           DBSNP:rs9420835      
intronic 103248476 A G forward           DBSNP:rs7899520      
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 103248607 A G forward           DBSNP:rs9420836      
intronic 103248825 C T forward           DBSNP:rs12246579      
intronic 103248852 C G forward           DBSNP:rs11191030      
intronic 103249486 A G forward           DBSNP:rs9420837      
intronic 103250004 A G forward           DBSNP:rs11597977      
intronic 103250200 C T forward           DBSNP:rs4244345      
intronic 103251146 C T forward           DBSNP:rs9420838      
intronic 103251404 C T forward           DBSNP:rs9420839      
intronic 103251503 C T forward           DBSNP:rs11814460      
intronic 103251557 A G forward           DBSNP:rs9420840      
intronic 103251668 C T forward           DBSNP:rs9420841      
intronic 103254132 A G forward           DBSNP:rs9420842      
intronic 103254177 C T forward           DBSNP:rs9420843      
intronic 103254392 G T forward           DBSNP:rs9420844      
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 103254860 A T forward           DBSNP:rs5025835      
intronic 103254864 A G forward           DBSNP:rs5025834      
intronic 103254886 A G forward           DBSNP:rs7088890      
intronic 103254890 A G forward           DBSNP:rs7088533      
intronic 103254896 A G forward           DBSNP:rs7088547      
intronic 103254904 A G forward           DBSNP:rs7088899      
intronic 103254910 A G forward           DBSNP:rs12762241      
intronic 103254920 A G forward           DBSNP:rs12762248      
intronic 103255394 A T forward           DBSNP:rs12414236      
intronic 103255833 C G forward           DBSNP:rs9419918      
intronic 103255880 C T forward           DBSNP:rs11191033      
intronic 103255904 A G forward           DBSNP:rs9420846      
intronic 103256575 A G forward           DBSNP:rs12413496      
intronic 103256728 C T forward           DBSNP:rs17689332      
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 103258147 C T forward           DBSNP:rs7087443      
intronic 103258832 G T forward           DBSNP:rs6584427      
intronic 103260305 A G forward           DBSNP:rs9420847      
intronic 103261252 A G forward           DBSNP:rs9420848      
intronic 103261296 G T forward           DBSNP:rs9420849      
intronic 103261566 G T forward           DBSNP:rs12773700      
intronic 103261567 C T forward           DBSNP:rs12773347      
intronic 103262112 A T forward           DBSNP:rs11596808      
intronic 103262211 C T forward           DBSNP:rs12774622      
intronic 103262639 C T forward           DBSNP:rs9419920      
intronic 103262768 C T forward           DBSNP:rs4919550      
intronic 103263087 G T forward           DBSNP:rs9419921      
intronic 103263719 A G forward           DBSNP:rs9325503      
intronic 103264230 A G forward           DBSNP:rs6584428      
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 103264602 C G forward           DBSNP:rs12769629      
intronic 103265259 A T forward           DBSNP:rs9420850      
intronic 103266510 C T forward           DBSNP:rs9420851      
intronic 103266960 A G forward           DBSNP:rs11191034      
intronic 103267837 G T forward           DBSNP:rs11191035      
intronic 103268162 A G forward           DBSNP:rs9420852      
intronic 103268424 C T forward           DBSNP:rs9420853      
intronic 103268663 C T forward           DBSNP:rs4917941      
intronic 103269629 C T forward           DBSNP:rs12360199      
intronic 103269657 A G forward           DBSNP:rs12357186      
intronic 103269667 A G forward           DBSNP:rs12360234      
intronic 103270010 C T forward           DBSNP:rs12268325      
intronic 103270021 A G forward           DBSNP:rs12360276      
intronic 103270303 A G forward           DBSNP:rs9419922      
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 103271298 A G forward           DBSNP:rs9419923      
intronic 103271624 C G forward           DBSNP:rs6584429      
intronic 103271666 A G forward           DBSNP:rs6584430      
intronic 103271712 C G forward           DBSNP:rs9420854      
intronic 103272026 A G forward           DBSNP:rs11191037      
intronic 103272114 A C forward           DBSNP:rs10883661      
intronic 103272124 A C forward           DBSNP:rs11191038      
intronic 103272849 A G forward           DBSNP:rs9419924      
intronic 103273183 C G forward           DBSNP:rs9420855      
intronic 103273683 A G forward           DBSNP:rs9420856      
intronic 103274060 G T forward           DBSNP:rs10509750      
intronic 103274164 C G forward           DBSNP:rs10509751      
intronic 103275161 G T forward           DBSNP:rs10509752      
intronic 103277106 A C forward           DBSNP:rs12257152      
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 103277512 C G forward           DBSNP:rs7904237      
intronic 103278426 G T forward           DBSNP:rs9419926      
intronic 103278900 A G forward           DBSNP:rs9420857      
intronic 103279308 A G forward           DBSNP:rs9420858      
intronic 103279981 A G forward           DBSNP:rs12570653      
intronic 103280928 A T forward           DBSNP:rs11816753      
intronic 103281239 C T forward           DBSNP:rs9420859      
intronic 103281883 A C forward           DBSNP:rs7073902      
intronic 103281997 C T forward           DBSNP:rs11191039      
intronic 103282874 C T forward           DBSNP:rs3213772      
intronic 103284294 C T forward           DBSNP:rs11592910      
intronic 103286797 A G reverse           DBSNP:rs3095800      
intronic 103288566 C T reverse           DBSNP:rs3095799      
intronic 103289257 A G reverse           DBSNP:rs3095798      
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 103290710 C T forward           DBSNP:rs13377175      
intronic 103291524 A C forward           DBSNP:rs3127231      
intronic 103292870 A C forward           DBSNP:rs7924110      
intronic 103293657 G T forward           DBSNP:rs6584431      
intronic 103294102 A G forward           DBSNP:rs6584432      
intronic 103294549 C T forward           DBSNP:rs3127235      
intronic 103294835 C G forward           DBSNP:rs3127236      
intronic 103295240 C T forward           DBSNP:rs12772174      
intronic 103295789 C G forward           DBSNP:rs3127237      
intronic 103296566 G T forward           DBSNP:rs3127238      
intronic 103297491 A T forward           DBSNP:rs9419929      
intronic 103297500 C T forward           DBSNP:rs11191041      
intronic 103297949 C G forward           DBSNP:rs11191042      
intronic 103298317 A G forward           DBSNP:rs11191043      
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 103298894 A G forward           DBSNP:rs7096502      
intronic 103299146 C T forward           DBSNP:rs11191044      
intronic 103299163 A G forward           DBSNP:rs7096565      
intronic 103299177 C T forward           DBSNP:rs11191045      
untranslated 103301370 A G forward           DBSNP:rs12241249      
untranslated 103301425 C T forward           DBSNP:rs7897749      
untranslated 103301503 C T forward           DBSNP:rs3127239      
untranslated 103301618 A G forward           DBSNP:rs4244346      
untranslated 103301631 C T forward           DBSNP:rs7084859      
untranslated 103301786 A C forward           DBSNP:rs11597334      
untranslated 103302069 C T forward           DBSNP:rs3127240      
untranslated 103302838 C G forward           DBSNP:rs3127241      
untranslated 103303113 A T forward           DBSNP:rs1045316      
untranslated 103303536 C G forward           DBSNP:rs4919551      
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
untranslated 103303610 A G forward           DBSNP:rs1045324      
untranslated 103304060 A T forward           DBSNP:rs11191046      
untranslated 103305168 A G forward           DBSNP:rs4919552      
untranslated 103305791 C T forward           DBSNP:rs1045232      
untranslated 103306641 A G forward           DBSNP:rs11595968      
untranslated 103306669 A T reverse           DBSNP:rs14249      
untranslated 103306808 A G reverse           DBSNP:rs2019      
untranslated 103306824 A G forward           DBSNP:rs11596007      

Last updated 28-Aug-2006

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