Hedgehog Signaling Pathway Database
 
Human Mutations - dyrk1a
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
          Y > F 415 N   SWISS:VAR_009395   10329007  
          Q > H 681 N   SWISS:VAR_009396   10329007  
intronic 37716173 C G forward           DBSNP:rs2835730      
intronic 37716173 C G forward           DBSNP:rs2835730      
intronic 37717143 C T forward           DBSNP:rs2298329      
intronic 37717143 C T forward           DBSNP:rs2298329      
intronic 37717432 C T forward           DBSNP:rs1010265      
intronic 37717432 C T forward           DBSNP:rs1010265      
intronic 37718598 C T forward           DBSNP:rs2835731      
intronic 37718598 C T forward           DBSNP:rs2835731      
intronic 37719033 A G forward           DBSNP:rs16995086      
intronic 37719346 A C forward           DBSNP:rs9975364      
intronic 37720060 A G forward           DBSNP:rs16997965      
intronic 37720373 A G forward           DBSNP:rs16995088      
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 37720953 G T forward           DBSNP:rs5019114      
intronic 37720953 G T forward           DBSNP:rs5019114      
intronic 37720969 G T forward           DBSNP:rs6517415      
intronic 37720969 G T forward           DBSNP:rs6517415      
intronic 37720993 G T forward           DBSNP:rs7282224      
intronic 37721056 C G forward           DBSNP:rs7281430      
intronic 37721073 A C forward           DBSNP:rs7281087      
intronic 37721108 A G forward           DBSNP:rs13048677      
intronic 37721161 A C forward           DBSNP:rs13048394      
intronic 37721690 A G forward           DBSNP:rs11701469      
intronic 37721709 A G forward           DBSNP:rs2835732      
intronic 37721709 A G forward           DBSNP:rs2835732      
intronic 37721907 C T forward           DBSNP:rs16995099      
intronic 37721949 A G forward           DBSNP:rs9978910      
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 37723175 A C forward           DBSNP:rs11088394      
intronic 37723226 C T forward           DBSNP:rs10483037      
intronic 37723246 A G forward           DBSNP:rs2835733      
intronic 37723246 A G forward           DBSNP:rs2835733      
intronic 37723293 C T forward           DBSNP:rs2835734      
intronic 37723293 C T forward           DBSNP:rs2835734      
intronic 37723839 C G forward           DBSNP:rs11700427      
intronic 37724539 C G forward           DBSNP:rs17229339      
intronic 37724686 A G forward           DBSNP:rs2835735      
intronic 37724686 A G forward           DBSNP:rs2835735      
intronic 37724743 C G forward           DBSNP:rs2835736      
intronic 37724743 C G forward           DBSNP:rs2835736      
intronic 37725211 A G forward           DBSNP:rs12482401      
intronic 37725212 A C forward           DBSNP:rs12482362      
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 37725297 C T reverse           DBSNP:rs2068173      
intronic 37725589 A G forward           DBSNP:rs7279339      
intronic 37725590 C T forward           DBSNP:rs7279068      
intronic 37725842 A G forward           DBSNP:rs2835737      
intronic 37725842 A G forward           DBSNP:rs2835737      
intronic 37726180 C T forward           DBSNP:rs11701982      
intronic 37726342 A G forward           DBSNP:rs17814693      
intronic 37726451 A G forward           DBSNP:rs11701874      
intronic 37726814 A G forward           DBSNP:rs2835738      
intronic 37726814 A G forward           DBSNP:rs2835738      
intronic 37727512 A G forward           DBSNP:rs2835739      
intronic 37727512 A G forward           DBSNP:rs2835739      
intronic 37727998 A G forward           DBSNP:rs16995103      
intronic 37728490 A G forward           DBSNP:rs16995107      
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 37728737 A T forward           DBSNP:rs4640466      
intronic 37728737 A T forward           DBSNP:rs4640466      
intronic 37728739 C T forward           DBSNP:rs3958998      
intronic 37728739 C T forward           DBSNP:rs3958998      
intronic 37728962 C T forward           DBSNP:rs9979445      
intronic 37730298 C G forward           DBSNP:rs11702209      
intronic 37730943 C T forward           DBSNP:rs2835740      
intronic 37730943 C T forward           DBSNP:rs2835740      
intronic 37731003 C G forward           DBSNP:rs9974163      
intronic 37731564 C T forward           DBSNP:rs2835741      
intronic 37731564 C T forward           DBSNP:rs2835741      
intronic 37732806 A G forward           DBSNP:rs12710444      
intronic 37733101 A G forward           DBSNP:rs9974990      
intronic 37734397 C T forward           DBSNP:rs13051471      
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 37735126 C T forward           DBSNP:rs11702096      
intronic 37735592 C G forward           DBSNP:rs11702573      
intronic 37735849 A G forward           DBSNP:rs2835742      
intronic 37735849 A G forward           DBSNP:rs2835742      
intronic 37736042 C T forward           DBSNP:rs11702689      
intronic 37736328 G T forward           DBSNP:rs9680102      
intronic 37736388 G T forward           DBSNP:rs8129561      
intronic 37736482 C T forward           DBSNP:rs8132000      
intronic 37736572 C T forward           DBSNP:rs2835743      
intronic 37736572 C T forward           DBSNP:rs2835743      
intronic 37737601 A T forward           DBSNP:rs11088395      
intronic 37737656 A G forward           DBSNP:rs2835745      
intronic 37737656 A G forward           DBSNP:rs2835745      
intronic 37737700 A G forward           DBSNP:rs2835746      
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 37737773 A T forward           DBSNP:rs17458669      
intronic 37738200 G T forward           DBSNP:rs2835747      
intronic 37738200 G T forward           DBSNP:rs2835747      
intronic 37738329 G T forward           DBSNP:rs2835748      
intronic 37738329 G T forward           DBSNP:rs2835748      
intronic 37739231 A G forward           DBSNP:rs7283089      
intronic 37739260 G T forward           DBSNP:rs9982990      
intronic 37739569 C T forward           DBSNP:rs9974713      
intronic 37739682 A G forward           DBSNP:rs11700462      
intronic 37740049 A C forward           DBSNP:rs9974535      
intronic 37740237 A G forward           DBSNP:rs2835749      
intronic 37740237 A G forward           DBSNP:rs2835749      
intronic 37740530 C T forward           DBSNP:rs2835750      
intronic 37740530 C T forward           DBSNP:rs2835750      
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 37741163 A C forward           DBSNP:rs11701206      
intronic 37741606 C T forward           DBSNP:rs11908990      
intronic 37742071 C T forward           DBSNP:rs16995130      
intronic 37742937 C T forward           DBSNP:rs7276192      
intronic 37743168 A G forward           DBSNP:rs9978472      
intronic 37743709 C G forward           DBSNP:rs16995134      
intronic 37743883 C T forward           DBSNP:rs13048401      
intronic 37744204 A C forward           DBSNP:rs16997966      
intronic 37744383 A G forward           DBSNP:rs11088396      
intronic 37744728 C T forward           DBSNP:rs11911857      
intronic 37745130 A G forward           DBSNP:rs11702808      
intronic 37745441 A G forward           DBSNP:rs11088397      
intronic 37745523 G T forward           DBSNP:rs13049697      
intronic 37746441 G T forward           DBSNP:rs16995140      
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 37746525 A G forward           DBSNP:rs4817863      
intronic 37746829 G T forward           DBSNP:rs11088398      
intronic 37747224 A C forward           DBSNP:rs10854381      
intronic 37747388 A T forward           DBSNP:rs9981091      
intronic 37747500 A G forward           DBSNP:rs8133809      
intronic 37748129 A G forward           DBSNP:rs2835751      
intronic 37748129 A G forward           DBSNP:rs2835751      
intronic 37748767 A T forward           DBSNP:rs16995144      
intronic 37748885 C T forward           DBSNP:rs9975652      
intronic 37749166 A G forward           DBSNP:rs9975083      
intronic 37749211 C T forward           DBSNP:rs9975239      
intronic 37749584 A T forward           DBSNP:rs16997968      
intronic 37749600 A G forward           DBSNP:rs928764      
intronic 37749600 A G forward           DBSNP:rs928764      
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 37749841 C T forward           DBSNP:rs2835752      
intronic 37750192 G T forward           DBSNP:rs2835753      
intronic 37750192 G T forward           DBSNP:rs2835753      
intronic 37750309 G T forward           DBSNP:rs2835754      
intronic 37750309 G T forward           DBSNP:rs2835754      
intronic 37750565 C T forward           DBSNP:rs16995148      
intronic 37750730 C G forward           DBSNP:rs2835755      
intronic 37750730 C G forward           DBSNP:rs2835755      
intronic 37751209 C T forward           DBSNP:rs13048484      
intronic 37751213 C T forward           DBSNP:rs8133381      
intronic 37751585 G T forward           DBSNP:rs8128072      
intronic 37754484 A G forward           DBSNP:rs2835756      
intronic 37754484 A G forward           DBSNP:rs2835756      
intronic 37754615 C T forward           DBSNP:rs9977549      
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 37755056 A G forward           DBSNP:rs8134269      
intronic 37755448 C T forward           DBSNP:rs2835757      
intronic 37755448 C T forward           DBSNP:rs2835757      
intronic 37755693 A G forward           DBSNP:rs9980174      
intronic 37755960 A G forward           DBSNP:rs6517416      
intronic 37755960 A G forward           DBSNP:rs6517416      
intronic 37756138 C T forward           DBSNP:rs9636635      
intronic 37756383 C T forward           DBSNP:rs7281213      
intronic 37757158 A G forward           DBSNP:rs8127024      
intronic 37757264 A G forward           DBSNP:rs2186338      
intronic 37757264 A G forward           DBSNP:rs2186338      
intronic 37757681 C T forward           DBSNP:rs4817864      
intronic 37757681 C T forward           DBSNP:rs4817864      
intronic 37759242 G T forward           DBSNP:rs13046025      
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 37760975 A T forward           DBSNP:rs7279050      
intronic 37762530 C T forward           DBSNP:rs6517417      
intronic 37762530 C T forward           DBSNP:rs6517417      
intronic 37762820 A T forward           DBSNP:rs9981259      
intronic 37763146 A G forward           DBSNP:rs7281132      
intronic 37763155 C T forward           DBSNP:rs7281260      
intronic 37763901 C G forward           DBSNP:rs9984490      
intronic 37764132 A G forward           DBSNP:rs7277209      
intronic 37764209 A G forward           DBSNP:rs9984928      
intronic 37764213 A G forward           DBSNP:rs7277733      
intronic 37765330 A G forward           DBSNP:rs10470178      
intronic 37765698 A G forward           DBSNP:rs2835759      
intronic 37765698 A G forward           DBSNP:rs2835759      
intronic 37765824 A G forward           DBSNP:rs2835760      
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 37765941 G T forward           DBSNP:rs8130503      
intronic 37765945 C T forward           DBSNP:rs8129473      
intronic 37766218 C T forward           DBSNP:rs2835761      
intronic 37766218 C T forward           DBSNP:rs2835761      
intronic 37766417 A G forward           DBSNP:rs16995166      
intronic 37766630 A T forward           DBSNP:rs17229402      
intronic 37766681 C T forward           DBSNP:rs16995167      
intronic 37767164 A G forward           DBSNP:rs2898316      
intronic 37767164 A G forward           DBSNP:rs2898316      
intronic 37767325 A G forward           DBSNP:rs16995170      
intronic 37767668 C T forward           DBSNP:rs2835762      
intronic 37767668 C T forward           DBSNP:rs2835762      
intronic 37768696 C T forward           DBSNP:rs16995172      
intronic 37769687 A T forward           DBSNP:rs2026264      
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 37770004 G T forward           DBSNP:rs8132830      
intronic 37770280 A C forward           DBSNP:rs16995173      
intronic 37771364 C T forward           DBSNP:rs9984646      
intronic 37771610 C T forward           DBSNP:rs2835763      
intronic 37771610 C T forward           DBSNP:rs2835763      
intronic 37771712 A G forward           DBSNP:rs8132789      
intronic 37772510 A G forward           DBSNP:rs928763      
intronic 37772510 A G forward           DBSNP:rs928763      
intronic 37772629 A G forward           DBSNP:rs10211972      
intronic 37772938 A C forward           DBSNP:rs17814746      
intronic 37773747 A G forward           DBSNP:rs7364101      
intronic 37773791 G T forward           DBSNP:rs9305618      
intronic 37774231 A G forward           DBSNP:rs2248244      
intronic 37774231 A G forward           DBSNP:rs2248244      
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 37774598 A G forward           DBSNP:rs2298330      
intronic 37775320 C T forward           DBSNP:rs16995190      
intronic 37775459 A C forward           DBSNP:rs11701810      
intronic 37776214 C T forward           DBSNP:rs2835764      
intronic 37776214 C T forward           DBSNP:rs2835764      
intronic 37776310 C G forward           DBSNP:rs11911681      
intronic 37776442 A G forward           DBSNP:rs6517418      
intronic 37776442 A G forward           DBSNP:rs6517418      
intronic 37776720 A G forward           DBSNP:rs2409895      
intronic 37776720 A G forward           DBSNP:rs2409895      
intronic 37776731 C G forward           DBSNP:rs9975263      
intronic 37777259 A C forward           DBSNP:rs6517419      
intronic 37777259 A C forward           DBSNP:rs6517419      
intronic 37777532 A G forward           DBSNP:rs16995197      
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 37778720 C T forward           DBSNP:rs9981552      
intronic 37779449 A G forward           DBSNP:rs2835765      
intronic 37779449 A G forward           DBSNP:rs2835765      
intronic 37779471 C G forward           DBSNP:rs16995199      
intronic 37779774 A T forward           DBSNP:rs2835766      
intronic 37779774 A T forward           DBSNP:rs2835766      
intronic 37780045 C G forward           DBSNP:rs2835767      
intronic 37780045 C G forward           DBSNP:rs2835767      
intronic 37781297 C T forward           DBSNP:rs1024294      
intronic 37781297 C T forward           DBSNP:rs1024294      
intronic 37781736 C T forward           DBSNP:rs16995205      
intronic 37782010 C T forward           DBSNP:rs2835768      
intronic 37782010 C T forward           DBSNP:rs2835768      
intronic 37782048 C T forward           DBSNP:rs2835769      
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 37782391 A C forward           DBSNP:rs2835770      
intronic 37782391 A C forward           DBSNP:rs2835770      
intronic 37783703 C T forward           DBSNP:rs2835771      
intronic 37783703 C T forward           DBSNP:rs2835771      
intronic 37784243 A T forward           DBSNP:rs4817865      
intronic 37784243 A T forward           DBSNP:rs4817865      
intronic 37784246 A G forward           DBSNP:rs4817866      
intronic 37784246 A G forward           DBSNP:rs4817866      
intronic 37784970 A G forward           DBSNP:rs16995210      
intronic 37787377 C G forward           DBSNP:rs2835772      
intronic 37787377 C G forward           DBSNP:rs2835772      
intronic 37787834 A G forward           DBSNP:rs2835773      
intronic 37787834 A G forward           DBSNP:rs2835773      
intronic 37789981 A T forward           DBSNP:rs8134408      
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 37791586 C T forward           DBSNP:rs2211840      
intronic 37793155 A G forward           DBSNP:rs2154545      
intronic 37793155 A G forward           DBSNP:rs2154545      
intronic 37793400 G T forward           DBSNP:rs13373170      
intronic 37794921 A C forward           DBSNP:rs8132976      
intronic 37795224 A G forward           DBSNP:rs7282670      
intronic 37795304 C T forward           DBSNP:rs13372685      
intronic 37795842 G T forward           DBSNP:rs9980200      
intronic 37796117 C T forward           DBSNP:rs2860151      
intronic 37796117 C T forward           DBSNP:rs2860151      
intronic 37796418 A G forward           DBSNP:rs11910554      
intronic 37797102 A T forward           DBSNP:rs2835774      
intronic 37797102 A T forward           DBSNP:rs2835774      
intronic 37798191 G T forward           DBSNP:rs9975651      
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 37799373 G T forward           DBSNP:rs2186339      
untranslated 37662694 A G forward           DBSNP:rs12483205      
untranslated 37662810 A T forward           DBSNP:rs13049226      
untranslated 37663844 C G forward           DBSNP:rs2211838      
untranslated 37663844 C G forward           DBSNP:rs2211838      
untranslated 37664335 A G forward           DBSNP:rs2211839      
untranslated 37664335 A G forward           DBSNP:rs2211839      
untranslated 37665319 C T forward           DBSNP:rs11701386      
untranslated 37665630 G T forward           DBSNP:rs11910816      
untranslated 37665756 A G forward           DBSNP:rs2835705      
untranslated 37665756 A G forward           DBSNP:rs2835705      
untranslated 37666456 A C forward           DBSNP:rs2409894      
untranslated 37666456 A C forward           DBSNP:rs2409894      
untranslated 37667061 G T forward           DBSNP:rs11702765      
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 37667275 C T forward           DBSNP:rs11911926      
untranslated 37667352 C G forward           DBSNP:rs11911778      
untranslated 37667553 C G forward           DBSNP:rs11700732      
untranslated 37667833 C G forward           DBSNP:rs2835706      
untranslated 37667833 C G forward           DBSNP:rs2835706      
untranslated 37668046 A G forward           DBSNP:rs2257040      
untranslated 37668046 A G forward           DBSNP:rs2257040      
untranslated 37668716 A G forward           DBSNP:rs9978894      
untranslated 37668864 A C forward           DBSNP:rs13052071      
untranslated 37668991 C T forward           DBSNP:rs9636634      
untranslated 37669779 C T forward           DBSNP:rs11702136      
untranslated 37670555 C T forward           DBSNP:rs9636920      
untranslated 37670616 C G forward           DBSNP:rs7277796      
untranslated 37670660 C T forward           DBSNP:rs9636921      
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 37671053 A G forward           DBSNP:rs1475887      
untranslated 37671179 A T forward           DBSNP:rs2835707      
untranslated 37671179 A T forward           DBSNP:rs2835707      
untranslated 37671716 C G forward           DBSNP:rs9982748      
untranslated 37671789 C T forward           DBSNP:rs9982836      
untranslated 37672887 C T forward           DBSNP:rs12481981      
untranslated 37673716 A G forward           DBSNP:rs2154543      
untranslated 37673716 A G forward           DBSNP:rs2154543      
untranslated 37673734 A C forward           DBSNP:rs2835708      
untranslated 37673734 A C forward           DBSNP:rs2835708      
untranslated 37674650 A G forward           DBSNP:rs11701862      
untranslated 37674729 C T forward           DBSNP:rs11701900      
untranslated 37675224 C T forward           DBSNP:rs1060576      
untranslated 37675224 C T forward           DBSNP:rs1060576      
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 37675236 C G forward           DBSNP:rs1060577      
untranslated 37675388 G T forward           DBSNP:rs1060578      
untranslated 37675388 G T forward           DBSNP:rs1060578      
untranslated 37676374 G T forward           DBSNP:rs7277662      
untranslated 37676473 G T forward           DBSNP:rs11700450      
untranslated 37676964 A G forward           DBSNP:rs12151982      
untranslated 37677753 C T forward           DBSNP:rs11701543      
untranslated 37680221 C G forward           DBSNP:rs12626319      
untranslated 37680409 A G forward           DBSNP:rs6517412      
untranslated 37680409 A G forward           DBSNP:rs6517412      
untranslated 37680888 C T forward           DBSNP:rs12482409      
untranslated 37681374 G T forward           DBSNP:rs11088389      
untranslated 37681422 A G forward           DBSNP:rs11088390      
untranslated 37681971 A G forward           DBSNP:rs2835709      
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 37682106 A G forward           DBSNP:rs2835710      
untranslated 37682106 A G forward           DBSNP:rs2835710      
untranslated 37682108 G T forward           DBSNP:rs11700867      
untranslated 37682297 C T forward           DBSNP:rs12329710      
untranslated 37682299 C T forward           DBSNP:rs12329711      
untranslated 37682951 A G forward           DBSNP:rs9978460      
untranslated 37683112 A G forward           DBSNP:rs12482577      
untranslated 37683220 A T forward           DBSNP:rs13052030      
untranslated 37683221 A T forward           DBSNP:rs13052031      
untranslated 37683222 A T forward           DBSNP:rs9979506      
untranslated 37683350 C T forward           DBSNP:rs12482631      
untranslated 37683791 C T forward           DBSNP:rs11702026      
untranslated 37684122 G T forward           DBSNP:rs6517413      
untranslated 37684122 G T forward           DBSNP:rs6517413      
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 37686707 A G forward           DBSNP:rs9636922      
untranslated 37686909 C T forward           DBSNP:rs11701678      
untranslated 37688079 C T forward           DBSNP:rs13050792      
untranslated 37688398 C T forward           DBSNP:rs9636923      
untranslated 37689453 G T forward           DBSNP:rs11700779      
untranslated 37690146 C G forward           DBSNP:rs2251085      
untranslated 37690146 C G forward           DBSNP:rs2251085      
untranslated 37690835 A T forward           DBSNP:rs8133103      
untranslated 37690998 A G forward           DBSNP:rs8132256      
untranslated 37691032 C G forward           DBSNP:rs2835711      
untranslated 37691032 C G forward           DBSNP:rs2835711      
untranslated 37691147 A G forward           DBSNP:rs11702088      
untranslated 37691349 A G forward           DBSNP:rs9982117      
untranslated 37691526 G T forward           DBSNP:rs17814633      
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 37691815 A C forward           DBSNP:rs2835712      
untranslated 37692252 C T forward           DBSNP:rs9980136      
untranslated 37692275 A G forward           DBSNP:rs12626889      
untranslated 37692400 C T forward           DBSNP:rs11701722      
untranslated 37692918 A G forward           DBSNP:rs16995056      
untranslated 37693253 A G forward           DBSNP:rs16995058      
untranslated 37693711 A G forward           DBSNP:rs11702865      
untranslated 37693956 A G forward           DBSNP:rs8129641      
untranslated 37694538 A G forward           DBSNP:rs11088391      
untranslated 37694792 A G forward           DBSNP:rs16995060      
untranslated 37694807 A G forward           DBSNP:rs13050046      
untranslated 37696435 A G forward           DBSNP:rs17814651      
untranslated 37696653 A G forward           DBSNP:rs9808797      
untranslated 37696717 C G forward           DBSNP:rs8126815      
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 37697150 A G forward           DBSNP:rs12483564      
untranslated 37697835 A G forward           DBSNP:rs8131655      
untranslated 37697837 A G forward           DBSNP:rs11700767      
untranslated 37697950 C T forward           DBSNP:rs11700902      
untranslated 37698016 A G forward           DBSNP:rs11700804      
untranslated 37698508 C G forward           DBSNP:rs2835714      
untranslated 37698508 C G forward           DBSNP:rs2835714      
untranslated 37699533 A C forward           DBSNP:rs16995063      
untranslated 37699865 A G forward           DBSNP:rs8133143      
untranslated 37699988 A G forward           DBSNP:rs2835715      
untranslated 37699988 A G forward           DBSNP:rs2835715      
untranslated 37701280 C T forward           DBSNP:rs2835716      
untranslated 37701280 C T forward           DBSNP:rs2835716      
untranslated 37701329 C G forward           DBSNP:rs2835717      
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 37701691 A G forward           DBSNP:rs11088392      
untranslated 37702111 A G forward           DBSNP:rs17229325      
untranslated 37702542 A C forward           DBSNP:rs7278611      
untranslated 37702998 C T forward           DBSNP:rs12481879      
untranslated 37703105 C T forward           DBSNP:rs13047129      
untranslated 37703200 C G forward           DBSNP:rs13047462      
untranslated 37703618 C T forward           DBSNP:rs2835718      
untranslated 37703618 C T forward           DBSNP:rs2835718      
untranslated 37703836 C T forward           DBSNP:rs6517414      
untranslated 37703836 C T forward           DBSNP:rs6517414      
untranslated 37704015 C G forward           DBSNP:rs9977979      
untranslated 37704781 C T forward           DBSNP:rs9981736      
untranslated 37705150 A G forward           DBSNP:rs9981551      
untranslated 37705548 A C forward           DBSNP:rs7276033      
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 37706121 C T forward           DBSNP:rs2835719      
untranslated 37706121 C T forward           DBSNP:rs2835719      
untranslated 37706229 A C forward           DBSNP:rs13052173      
untranslated 37706467 A T forward           DBSNP:rs8128582      
untranslated 37706494 A G forward           DBSNP:rs7281326      
untranslated 37706844 A G forward           DBSNP:rs2835720      
untranslated 37706844 A G forward           DBSNP:rs2835720      
untranslated 37707076 A G forward           DBSNP:rs9976328      
untranslated 37707169 C T forward           DBSNP:rs2835721      
untranslated 37707169 C T forward           DBSNP:rs2835721      
untranslated 37707810 C T forward           DBSNP:rs16995075      
untranslated 37707905 C T forward           DBSNP:rs2835722      
untranslated 37707905 C T forward           DBSNP:rs2835722      
untranslated 37708866 A G forward           DBSNP:rs2835723      
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 37709549 A C forward           DBSNP:rs11088393      
untranslated 37709882 A G forward           DBSNP:rs9974451      
untranslated 37710516 C T forward           DBSNP:rs11701269      
untranslated 37710596 C T forward           DBSNP:rs2835724      
untranslated 37710596 C T forward           DBSNP:rs2835724      
untranslated 37710683 C T forward           DBSNP:rs16995078      
untranslated 37711826 C T forward           DBSNP:rs2298328      
untranslated 37711826 C T forward           DBSNP:rs2298328      
untranslated 37711917 A C forward           DBSNP:rs9975193      
untranslated 37712404 G T forward           DBSNP:rs16995079      
untranslated 37712433 A G forward           DBSNP:rs2245343      
untranslated 37712433 A G forward           DBSNP:rs2245343      
untranslated 37713026 A G forward           DBSNP:rs2835725      
untranslated 37713026 A G forward           DBSNP:rs2835725      
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 37713451 A C forward           DBSNP:rs2835726      
untranslated 37713451 A C forward           DBSNP:rs2835726      
untranslated 37713543 A T forward           DBSNP:rs2835727      
untranslated 37713543 A T forward           DBSNP:rs2835727      
untranslated 37713633 C T forward           DBSNP:rs2835728      
untranslated 37713633 C T forward           DBSNP:rs2835728      
untranslated 37713947 A T forward           DBSNP:rs2835729      
untranslated 37713947 A T forward           DBSNP:rs2835729      
untranslated 37714001 C T forward           DBSNP:rs13049514      
untranslated 37801311 C T forward           DBSNP:rs13052269      
untranslated 37801625 C T forward           DBSNP:rs11702000      
untranslated 37801676 A C forward           DBSNP:rs7281199      
untranslated 37802605 C T forward           DBSNP:rs12627645      
untranslated 37802715 C T forward           DBSNP:rs9984718      
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 37803657 C T forward           DBSNP:rs7283464      
untranslated 37803834 C G forward           DBSNP:rs7282923      
untranslated 37803897 A G forward           DBSNP:rs13049853      
untranslated 37804874 A G forward           DBSNP:rs2835775      
untranslated 37804874 A G forward           DBSNP:rs2835775      
untranslated 37805410 A G forward           DBSNP:rs7279607      
untranslated 37805455 A G forward           DBSNP:rs9980596      
untranslated 37807132 C T forward           DBSNP:rs8132543      
untranslated 37807312 A G forward           DBSNP:rs1803439      
untranslated 37807312 A G forward           DBSNP:rs1803439      
untranslated 37807376 C T forward           DBSNP:rs17193211      
untranslated 37808492 A C forward           DBSNP:rs1049802      
untranslated 37808492 A C forward           DBSNP:rs1049802      
untranslated 37808682 A G forward           DBSNP:rs17814764      
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 37809076 C T forward           DBSNP:rs7720      
untranslated 37809076 C T forward           DBSNP:rs7720