Hedgehog Signaling Pathway Database
 
Human Mutations - Ext1
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
EXT1; no loss of activity         Q > K 27 N   SWISS:VAR_012815      
EXT1 108 C A     Y > X 119 N E1     9521425 Raskind, W. H.; Conrad, E. U., III; Matsushita, M.; Wijsman, E. M.; Wells, D. E.; Chapman, N.; Sandell, L. J.; Wagner, M.; Houck, J. Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. Hum. Mutat. 11: 231-239, 1998.
EXT1; loss of activity         D > H 164 N   SWISS:VAR_012816   10441575  
isolated osteochondroma; somatic mutation         MLAKASIS > I 215 N   SWISS:VAR_012818   11169766  
EXT1; loss of activity         R > S 280 N   SWISS:VAR_002371   9521425  
EXT1; loss of activity         R > G 280 N   SWISS:VAR_002370   9463333 9521425  
chondrosarcoma; no loss of activity         N > S 316 N   SWISS:VAR_012820   10441575  
EXT1         G > D 339 N       9326317 Philippe, C.; Porter, D. E.; Emerton, M. E.; Wells, D. E.; Simpson, A. H. R. W.; Monaco, A. P. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am. J. Hum. Genet. 61: 520-528, 1997.
EXT1; loss of activity         G > D 339 N   SWISS:VAR_002372   9326317  
EXT1 1635 G T     R > L 340 N E2 SWISS:VAR_002375   8981950 Hecht, J. T.; Hogue, D.; Wang, Y.; Blanton, S. H.; Wagner, M.; Strong, L. C.; Raskind, W.; Hansen, M. F.; Wells, D. Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am. J. Hum. Genet. 60: 80-86, 1997.
EXT1         R > C 340 N E2     9326317 Philippe, C.; Porter, D. E.; Emerton, M. E.; Wells, D. E.; Simpson, A. H. R. W.; Monaco, A. P. :
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am. J. Hum. Genet. 61: 520-528, 1997.                        
EXT1; loss of activity; still able to form an oligomeric complex         R > C 340 N   SWISS:VAR_002373   9326317  
EXT1; loss of activity         R > S 340 N   SWISS:VAR_002376   9463333  
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
EXT1; no loss of activity         A > V 486 N   SWISS:VAR_012821   10480354  
EXT1; no loss of activity         P > L 496 N   SWISS:VAR_012822   10480354  
EXT1 210     delT             7550340 Ahn, J.; Ludecke, H.-J.; Lindow, S.; Horton, W. A.; Lee, B.; Wagner, M. J.; Horsthemke, B.; Wells, D. E. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nature Genet. 11: 137-143, 1995.
EXT1 1364     delC       E1     8981950 Hecht, J. T.; Hogue, D.; Wang, Y.; Blanton, S. H.; Wagner, M.; Strong, L. C.; Raskind, W.; Hansen, M. F.; Wells, D. Hereditary multiple exostoses (EXT) mutational studies of familial EXT1 cases and EXT-associated malignancies. Am. J. Hum. Genet. 60: 80-86, 1997.
EXT1 1035     ins4       E1     8981950 Hecht, J. T.; Hogue, D.; Wang, Y.; Blanton, S. H.; Wagner, M.; Strong, L. C.; Raskind, W.; Hansen, M. F.; Wells, D.Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am. J. Hum. Genet. 60: 80-86, 1997.
CHONDROSARCOMA 2077     insC       E6     8981950 Hecht, J. T.; Hogue, D.; Wang, Y.; Blanton, S. H.; Wagner, M.; Strong, L. C.; Raskind, W.; Hansen, M. F.; Wells, D. Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am. J. Hum. Genet. 60: 80-86, 1997.
CHONDROSARCOMA 1178     del8             8981950 Hecht, J. T.; Hogue, D.; Wang, Y.; Blanton, S. H.; Wagner, M.; Strong, L. C.; Raskind, W.; Hansen, M. F.; Wells, D. Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am. J. Hum. Genet. 60: 80-86, 1997.
EXT1   G C   IVS1DS       I1     15253765 Faiyaz-Ul-Haque, M.; Ahmad, W.; Zaidi, S. H. E.; Hussain, S.; Haque, S.; Ahmad, M.; Cohn, D. H.; Tsui, L.-C.Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). Clin. Genet. 66: 144-151, 2004.
EXT1 1664     insA       E8     15253765 Faiyaz-Ul-Haque, M.; Ahmad, W.; Zaidi, S. H. E.; Hussain, S.; Haque, S.; Ahmad, M.; Cohn, D. H.; Tsui, L.-C. Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). Clin. Genet. 66: 144-151, 2004.
intronic 118881794 C T forward           DBSNP:rs12549348      
intronic 118882426 C T forward           DBSNP:rs13270668      
intronic 118883039 C T forward           DBSNP:rs10755914      
intronic 118883265 C T forward           DBSNP:rs4242575      
intronic 118883823 C T forward           DBSNP:rs11787408      
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 118884468 A C forward           DBSNP:rs11777800      
intronic 118886648 A T forward           DBSNP:rs13273595      
intronic 118888067 C T forward           DBSNP:rs10808488      
intronic 118889767 A G forward           DBSNP:rs12675718      
intronic 118889983 A T forward           DBSNP:rs12545161      
intronic 118890391 A G forward           DBSNP:rs10955832      
intronic 118890772 C G forward           DBSNP:rs10955833      
intronic 118891114 A C forward           DBSNP:rs10955834      
intronic 118892807 A C forward           DBSNP:rs4370563      
intronic 118892870 C G forward           DBSNP:rs13281310      
intronic 118893334 A G forward           DBSNP:rs4876391      
intronic 118893519 C T forward           DBSNP:rs4876392      
intronic 118894090 A G forward           DBSNP:rs10955835      
intronic 118894535 C T forward           DBSNP:rs4382503      
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 118895879 A G forward           DBSNP:rs11783511      
intronic 118897020 A G forward           DBSNP:rs11989122      
intronic 118897081 A G forward           DBSNP:rs11989129      
intronic 118897449 A G forward           DBSNP:rs10104591      
intronic 118897750 A T forward           DBSNP:rs11996407      
intronic 118897942 A C forward           DBSNP:rs10955836      
intronic 118898594 C G forward           DBSNP:rs11779439      
intronic 118900001 C T forward           DBSNP:rs10955837      
intronic 118900075 C T forward           DBSNP:rs4876757      
intronic 118900173 C T forward           DBSNP:rs10102974      
intronic 118900835 C T forward           DBSNP:rs2067866      
intronic 118901037 A C forward           DBSNP:rs10098992      
intronic 118902497 C T forward           DBSNP:rs11778143      
intronic 118902649 C T forward           DBSNP:rs10103734      
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 118903665 A C forward           DBSNP:rs10107623      
intronic 118904133 C T forward           DBSNP:rs4355803      
intronic 118904318 A G forward           DBSNP:rs4366105      
intronic 118904438 A G forward           DBSNP:rs10111197      
intronic 118908133 C T forward           DBSNP:rs4326407      
intronic 118908565 A C forward           DBSNP:rs4876758      
intronic 118908693 C T forward           DBSNP:rs4876759      
intronic 118909360 A G forward           DBSNP:rs10103242      
intronic 118910125 A T forward           DBSNP:rs4876393      
intronic 118910581 C T forward           DBSNP:rs9643118      
intronic 118910936 A T forward           DBSNP:rs4876761      
intronic 118911015 G T forward           DBSNP:rs4876762      
intronic 118911925 A C forward           DBSNP:rs9642837      
intronic 118913220 C T forward           DBSNP:rs12682457      
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 118914387 C G forward           DBSNP:rs4531085      
intronic 118914711 A G forward           DBSNP:rs11784841      
intronic 118914759 G T forward           DBSNP:rs4531086      
intronic 118915047 A G forward           DBSNP:rs10105753      
intronic 118915232 A C forward           DBSNP:rs11989463      
intronic 118915568 A C forward           DBSNP:rs4546690      
intronic 118915935 C G forward           DBSNP:rs13264956      
intronic 118916003 C T forward           DBSNP:rs13271710      
intronic 118917674 C T forward           DBSNP:rs4876763      
intronic 118917699 C T forward           DBSNP:rs4876764      
intronic 118919825 C G forward           DBSNP:rs10094527      
intronic 118921055 A G forward           DBSNP:rs4509363      
intronic 118921420 C G forward           DBSNP:rs13270460      
intronic 118921554 C T forward           DBSNP:rs13270313      
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 118922004 C G forward           DBSNP:rs10112120      
intronic 118922268 A T forward           DBSNP:rs12334527      
intronic 118922904 A C forward           DBSNP:rs10113092      
intronic 118923010 C T forward           DBSNP:rs10103003      
intronic 118925250 C T forward           DBSNP:rs9656922      
intronic 118926885 C G forward           DBSNP:rs12676684      
intronic 118927920 A G forward           DBSNP:rs4322034      
intronic 118928907 C T forward           DBSNP:rs10109062      
intronic 118929145 A C forward           DBSNP:rs10111990      
intronic 118929583 A G forward           DBSNP:rs9792392      
intronic 118930460 G T forward           DBSNP:rs4612367      
intronic 118931074 A T forward           DBSNP:rs10098795      
intronic 118931235 C T forward           DBSNP:rs11780721      
intronic 118932028 G T forward           DBSNP:rs10089630      
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 118932681 C T forward           DBSNP:rs4270997      
intronic 118932755 C T forward           DBSNP:rs12114384      
intronic 118932767 C T forward           DBSNP:rs12114385      
intronic 118933635 C T forward           DBSNP:rs10094440      
intronic 118933955 G T forward           DBSNP:rs11990095      
intronic 118934752 A G forward           DBSNP:rs10111748      
intronic 118934793 C T forward           DBSNP:rs10111573      
intronic 118935393 C T forward           DBSNP:rs4876394      
intronic 118935553 C T forward           DBSNP:rs10102199      
intronic 118936129 C T forward           DBSNP:rs4490876      
intronic 118936173 A G forward           DBSNP:rs4324942      
intronic 118936395 A G forward           DBSNP:rs10090920      
intronic 118936671 A G forward           DBSNP:rs10091596      
intronic 118937705 C T forward           DBSNP:rs13271840      
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 118937929 A G forward           DBSNP:rs10095983      
intronic 118938107 A G forward           DBSNP:rs10098896      
intronic 118938319 C T forward           DBSNP:rs12680472      
intronic 118939313 A G forward           DBSNP:rs9694057      
intronic 118939332 C T forward           DBSNP:rs12541615      
intronic 118940186 A C forward           DBSNP:rs13264496      
intronic 118940280 A G forward           DBSNP:rs11989731      
intronic 118940657 C T forward           DBSNP:rs4463453      
intronic 118941293 A C forward           DBSNP:rs12674989      
intronic 118942758 C T forward           DBSNP:rs4478606      
intronic 118943112 A G reverse           DBSNP:rs4076475      
intronic 118943488 A G forward           DBSNP:rs10098149      
intronic 118943744 A T forward           DBSNP:rs10098201      
intronic 118945428 C T forward           DBSNP:rs10092644      
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 118946264 G T forward           DBSNP:rs4262351      
intronic 118946379 A T reverse           DBSNP:rs4129116      
intronic 118946669 G T reverse           DBSNP:rs4129115      
intronic 118946756 A T reverse           DBSNP:rs4129114      
intronic 118947338 C T forward           DBSNP:rs11988162      
intronic 118947455 A G forward           DBSNP:rs12682655      
intronic 118948311 C T forward           DBSNP:rs12677136      
intronic 118949170 A G forward           DBSNP:rs10093528      
intronic 118949401 A G forward           DBSNP:rs10093485      
intronic 118949508 C T forward           DBSNP:rs10093804      
intronic 118949683 C T forward           DBSNP:rs10108788      
intronic 118949695 A G forward           DBSNP:rs10093862      
intronic 118950512 A G forward           DBSNP:rs4242576      
intronic 118950627 C T forward           DBSNP:rs4876765      
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 118951089 A T forward           DBSNP:rs12549000      
intronic 118954823 A G forward           DBSNP:rs12548703      
intronic 118955049 G T forward           DBSNP:rs13261321      
intronic 118955163 A C forward           DBSNP:rs13259337      
intronic 118955610 C T forward           DBSNP:rs12542013      
intronic 118955618 A G forward           DBSNP:rs12549331      
intronic 118955971 A G forward           DBSNP:rs10955839      
intronic 118956447 G T forward           DBSNP:rs11986974      
intronic 118957229 A G forward           DBSNP:rs12682480      
intronic 118957338 A T forward           DBSNP:rs12678309      
intronic 118959325 A G forward           DBSNP:rs11993275      
intronic 118961077 A G forward           DBSNP:rs11785986      
intronic 118961226 A G reverse           DBSNP:rs4129093      
intronic 118961525 A G reverse           DBSNP:rs4129092      
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 118963081 C T forward           DBSNP:rs4876766      
intronic 118964194 C T forward           DBSNP:rs12541851      
intronic 118965748 C T forward           DBSNP:rs11776292      
intronic 118966844 C T forward           DBSNP:rs12543508      
intronic 118968506 C T forward           DBSNP:rs13266866      
intronic 118968550 A C forward           DBSNP:rs12549700      
intronic 118969741 G T forward           DBSNP:rs4480147      
intronic 118969749 A T forward           DBSNP:rs4475517      
intronic 118970442 A G forward           DBSNP:rs13251971      
intronic 118970633 C T forward           DBSNP:rs13252084      
intronic 118970705 C T forward           DBSNP:rs4621831      
intronic 118970766 A G forward           DBSNP:rs4480148      
intronic 118971109 G T forward           DBSNP:rs13280053      
intronic 118972205 C T forward           DBSNP:rs9692869      
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 118973678 A T forward           DBSNP:rs10808489      
intronic 118974257 C G forward           DBSNP:rs10110167      
intronic 118974818 A G forward           DBSNP:rs10110572      
intronic 118975912 C T forward           DBSNP:rs10086684      
intronic 118976044 C T forward           DBSNP:rs13259393      
intronic 118978409 A T forward           DBSNP:rs4339678      
intronic 118979538 G T forward           DBSNP:rs11774623      
intronic 118979782 A G forward           DBSNP:rs11777874      
intronic 118980455 A G forward           DBSNP:rs9721036      
intronic 118980891 C T forward           DBSNP:rs10441512      
intronic 118980977 C T forward           DBSNP:rs10106675      
intronic 118981029 A G forward           DBSNP:rs10088632      
intronic 118981280 C G forward           DBSNP:rs9297572      
intronic 118982276 C T forward           DBSNP:rs9656923      
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 118982377 C T forward           DBSNP:rs9656925      
intronic 118982579 A G forward           DBSNP:rs9656804      
intronic 118983558 C T forward           DBSNP:rs12682332      
intronic 118984060 A T forward           DBSNP:rs4602926      
intronic 118984428 C T forward           DBSNP:rs11784409      
intronic 118984431 A G forward           DBSNP:rs11784466      
intronic 118985393 C T forward           DBSNP:rs4876767      
intronic 118986426 C T forward           DBSNP:rs4377987      
intronic 118986808 C T forward           DBSNP:rs4391466      
intronic 118987545 A T forward           DBSNP:rs4876768      
intronic 118988430 A G forward           DBSNP:rs4515578      
intronic 118988520 A T forward           DBSNP:rs4256623      
intronic 118989154 C T forward           DBSNP:rs13265834      
intronic 118989184 A T forward           DBSNP:rs13263609      
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 118990336 A G forward           DBSNP:rs4876769      
intronic 118990444 C T forward           DBSNP:rs11776458      
intronic 118990458 A G forward           DBSNP:rs11783359      
intronic 118990902 C T forward           DBSNP:rs13275942      
intronic 118991493 A C forward           DBSNP:rs10107685      
intronic 118992368 A G forward           DBSNP:rs3923167      
intronic 118993642 A G forward           DBSNP:rs11781153      
intronic 118993973 A G forward           DBSNP:rs11781245      
intronic 118994719 C T forward           DBSNP:rs4467961      
intronic 118995240 G T forward           DBSNP:rs4541958      
intronic 118996181 C T forward           DBSNP:rs11780699      
intronic 118996444 A G forward           DBSNP:rs11777220      
intronic 118996645 C T forward           DBSNP:rs4324944      
intronic 118997248 C T forward           DBSNP:rs10955840      
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 118998190 A G forward           DBSNP:rs4876771      
intronic 118998309 A G forward           DBSNP:rs4242577      
intronic 118999690 A G forward           DBSNP:rs4401892      
intronic 119000561 C G forward           DBSNP:rs13251463      
intronic 119001587 C T forward           DBSNP:rs10098363      
intronic 119002068 C T forward           DBSNP:rs4298514      
intronic 119002254 A G reverse           DBSNP:rs3101578      
intronic 119002464 C T forward           DBSNP:rs11562682      
intronic 119002475 C T reverse           DBSNP:rs1125103      
intronic 119002778 G T forward           DBSNP:rs11562779      
intronic 119002780 A G forward           DBSNP:rs3134312      
intronic 119003253 A T forward           DBSNP:rs3134313      
intronic 119003537 A T forward           DBSNP:rs2019967      
intronic 119003602 A G forward           DBSNP:rs1824686      
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 119003779 A T forward           DBSNP:rs13264157      
intronic 119003885 G T forward           DBSNP:rs13266754      
intronic 119003887 C T forward           DBSNP:rs13266755      
intronic 119003889 A G forward           DBSNP:rs1824687      
intronic 119004805 A G forward           DBSNP:rs2086008      
intronic 119004954 A G forward           DBSNP:rs2086009      
intronic 119005983 C T forward           DBSNP:rs958381      
intronic 119006006 A G forward           DBSNP:rs958382      
intronic 119006945 G T reverse           DBSNP:rs3101576      
intronic 119007474 C G forward           DBSNP:rs11562742      
intronic 119007634 A G forward           DBSNP:rs12171663      
intronic 119008029 C T forward           DBSNP:rs11562826      
intronic 119008175 A G forward           DBSNP:rs1542519      
intronic 119008434 C T forward           DBSNP:rs11562705      
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 119008522 A T forward           DBSNP:rs10097988      
intronic 119008698 C T reverse           DBSNP:rs3101574      
intronic 119009718 C T forward           DBSNP:rs1462985      
intronic 119010109 A C reverse           DBSNP:rs2447541      
intronic 119010286 C T forward           DBSNP:rs10505323      
intronic 119010877 C T reverse           DBSNP:rs2447540      
intronic 119011072 C G reverse           DBSNP:rs2447539      
intronic 119011229 C T forward           DBSNP:rs11562778      
intronic 119011561 C G reverse           DBSNP:rs2447538      
intronic 119011860 C T forward           DBSNP:rs11562741      
intronic 119011879 A G forward           DBSNP:rs11562674      
intronic 119012098 A G reverse           DBSNP:rs2447537      
intronic 119012386 A G reverse           DBSNP:rs2447536      
intronic 119012576 C T forward           DBSNP:rs2514719      
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 119013382 C T forward           DBSNP:rs2514720      
intronic 119013766 A G forward           DBSNP:rs2514722      
intronic 119013869 A G forward           DBSNP:rs11562777      
intronic 119014107 A G forward           DBSNP:rs4876774      
intronic 119014146 C T forward           DBSNP:rs11562740      
intronic 119014155 A G forward           DBSNP:rs4876775      
intronic 119015364 C T reverse           DBSNP:rs2447535      
intronic 119015722 A G forward           DBSNP:rs10955841      
intronic 119018219 C T forward           DBSNP:rs12674808      
intronic 119020882 A G forward           DBSNP:rs10283018      
intronic 119021203 C T forward           DBSNP:rs4876777      
intronic 119021655 C T forward           DBSNP:rs11562824      
intronic 119022819 C G forward           DBSNP:rs10283365      
intronic 119023068 C T forward           DBSNP:rs4876395      
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 119025575 A C forward           DBSNP:rs10095415      
intronic 119027700 G T forward           DBSNP:rs10955842      
intronic 119027948 C G forward           DBSNP:rs11562668      
intronic 119028606 A T forward           DBSNP:rs4876778      
intronic 119029269 A C forward           DBSNP:rs11562704      
intronic 119029994 A G forward           DBSNP:rs11562739      
intronic 119030566 A C forward           DBSNP:rs11562687      
intronic 119031333 C G forward           DBSNP:rs11562823      
intronic 119033529 A G forward           DBSNP:rs11562738      
intronic 119034267 C G forward           DBSNP:rs10109934      
intronic 119035325 A G forward           DBSNP:rs2325821      
intronic 119036674 A G forward           DBSNP:rs4609223      
intronic 119038534 A G forward           DBSNP:rs11562776      
intronic 119039481 A C forward           DBSNP:rs11562822      
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 119039665 C T forward           DBSNP:rs11562775      
intronic 119040093 A C forward           DBSNP:rs13261080      
intronic 119040631 C G forward           DBSNP:rs13263541      
intronic 119040749 C T forward           DBSNP:rs11562821      
intronic 119040831 C G forward           DBSNP:rs13264137      
intronic 119042112 A G forward           DBSNP:rs11562737      
intronic 119042169 A G forward           DBSNP:rs11562774      
intronic 119042487 A G forward           DBSNP:rs11562703      
intronic 119043711 A G forward           DBSNP:rs11562671      
intronic 119043945 A G forward           DBSNP:rs10097196      
intronic 119044706 C T forward           DBSNP:rs2514721      
intronic 119045481 C T forward           DBSNP:rs11562773      
intronic 119045488 C T forward           DBSNP:rs11562681      
intronic 119045942 A G forward           DBSNP:rs11562736      
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 119046609 C T forward           DBSNP:rs11562673      
intronic 119046894 C T forward           DBSNP:rs11562820      
intronic 119047723 C T forward           DBSNP:rs10099671      
intronic 119048355 C T forward           DBSNP:rs11562772      
intronic 119049353 A G forward           DBSNP:rs10955843      
intronic 119049427 C T forward           DBSNP:rs12544831      
intronic 119049520 A T reverse           DBSNP:rs880400      
intronic 119049833 A C forward           DBSNP:rs12542183      
intronic 119049969 A T forward           DBSNP:rs13265383      
intronic 119049973 A T forward           DBSNP:rs13265395      
intronic 119049974 A T forward           DBSNP:rs2514723      
intronic 119049994 A T forward           DBSNP:rs9802083      
intronic 119050278 C T forward           DBSNP:rs4876780      
intronic 119050779 A G forward           DBSNP:rs11562819      
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 119051790 C T forward           DBSNP:rs2014742      
intronic 119053610 G T reverse           DBSNP:rs2008799      
intronic 119054646 A G forward           DBSNP:rs4876781      
intronic 119055063 C T forward           DBSNP:rs13256042      
intronic 119057187 G T forward           DBSNP:rs2219724      
intronic 119057343 C T forward           DBSNP:rs2199545      
intronic 119057723 A C forward           DBSNP:rs1466429      
intronic 119058278 A G forward           DBSNP:rs10087446      
intronic 119058757 C T forward           DBSNP:rs10102745      
intronic 119059090 C G forward           DBSNP:rs13438896      
intronic 119060165 A G forward           DBSNP:rs4876782      
intronic 119060210 C T forward           DBSNP:rs4876783      
intronic 119060799 A C forward           DBSNP:rs1903780      
intronic 119061331 A G forward           DBSNP:rs10955844      
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 119062222 A G forward           DBSNP:rs11786711      
intronic 119063421 A C forward           DBSNP:rs11562818      
intronic 119064720 A G forward           DBSNP:rs13260360      
intronic 119065480 A G forward           DBSNP:rs4876784      
intronic 119065672 C T forward           DBSNP:rs11779609      
intronic 119065675 A C forward           DBSNP:rs11775987      
intronic 119066312 C T forward           DBSNP:rs10955845      
intronic 119066327 C T forward           DBSNP:rs12543161      
intronic 119066349 C G forward           DBSNP:rs10955846      
intronic 119066594 C T forward           DBSNP:rs11987653      
intronic 119067622 C T forward           DBSNP:rs13256252      
intronic 119069278 A C forward           DBSNP:rs9650072      
intronic 119069589 A C forward           DBSNP:rs1564132      
intronic 119071533 A T forward           DBSNP:rs12545650      
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 119072678 A G forward           DBSNP:rs12680818      
intronic 119073473 C T forward           DBSNP:rs13260665      
intronic 119074185 A G forward           DBSNP:rs11562817      
intronic 119077139 A C forward           DBSNP:rs11562771      
intronic 119079106 C T forward           DBSNP:rs4288407      
intronic 119079116 C G forward           DBSNP:rs4305929      
intronic 119080364 C T forward           DBSNP:rs10955848      
intronic 119080404 C T forward           DBSNP:rs11562816      
intronic 119081251 A G forward           DBSNP:rs2290952      
intronic 119081962 C T forward           DBSNP:rs13255959      
intronic 119084955 C G forward           DBSNP:rs11562735      
intronic 119086110 A G forward           DBSNP:rs11562770      
intronic 119086654 C T forward           DBSNP:rs13267449      
intronic 119086858 C T forward           DBSNP:rs9643119      
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 119087153 C T forward           DBSNP:rs10111055      
intronic 119087154 A G forward           DBSNP:rs4876785      
intronic 119087852 A G forward           DBSNP:rs11562702      
intronic 119088919 A G forward           DBSNP:rs9643120      
intronic 119089523 C T forward           DBSNP:rs2514727      
intronic 119089623 A G forward           DBSNP:rs9297573      
intronic 119089630 A G forward           DBSNP:rs9297574      
intronic 119090606 C T forward           DBSNP:rs2447531      
intronic 119090762 C T forward           DBSNP:rs11562769      
intronic 119091303 A G forward           DBSNP:rs10106485      
intronic 119092853 C T forward           DBSNP:rs11562680      
intronic 119093000 C T forward           DBSNP:rs2126630      
intronic 119093608 A G forward           DBSNP:rs11562768      
intronic 119093614 C T forward           DBSNP:rs11562667      
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 119094783 C T forward           DBSNP:rs13261684      
intronic 119095418 C T forward           DBSNP:rs10109014      
intronic 119095746 A C forward           DBSNP:rs10094617      
intronic 119096268 C T forward           DBSNP:rs13277893      
intronic 119096732 C T forward           DBSNP:rs11562657      
intronic 119098096 A G reverse           DBSNP:rs1037693      
intronic 119099458 C T forward           DBSNP:rs4876398      
intronic 119100202 C G forward           DBSNP:rs11562701      
intronic 119102094 C T forward           DBSNP:rs11562734      
intronic 119102435 A G forward           DBSNP:rs2325822      
intronic 119102951 C T forward           DBSNP:rs11562767      
intronic 119103361 C G forward           DBSNP:rs11778456      
intronic 119103686 A T forward           DBSNP:rs4556109      
intronic 119103745 A T reverse           DBSNP:rs2445918      
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 119103865 A G reverse           DBSNP:rs2445916      
intronic 119104097 C G reverse           DBSNP:rs2168667      
intronic 119104191 C T forward           DBSNP:rs10955849      
intronic 119105322 A G reverse           DBSNP:rs2279121      
intronic 119107329 C T forward           DBSNP:rs11562733      
intronic 119108439 C T forward           DBSNP:rs10111450      
intronic 119112476 C T forward           DBSNP:rs11562672      
intronic 119112501 G T forward           DBSNP:rs2447533      
intronic 119112811 A G forward           DBSNP:rs10092176      
intronic 119114132 A G forward           DBSNP:rs2514714      
intronic 119114510 C T forward           DBSNP:rs4876399      
intronic 119115370 C G forward           DBSNP:rs11562732      
intronic 119115521 A G forward           DBSNP:rs11562700      
intronic 119116570 C T forward           DBSNP:rs11562731      
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 119116727 C G forward           DBSNP:rs10216949      
intronic 119118198 C G forward           DBSNP:rs10087091      
intronic 119118281 C T forward           DBSNP:rs11562730      
intronic 119118427 A G forward           DBSNP:rs1870101      
intronic 119118465 C G forward           DBSNP:rs13251917      
intronic 119118466 A T forward           DBSNP:rs13253417      
intronic 119118500 A G forward           DBSNP:rs11562766      
intronic 119118557 A T forward           DBSNP:rs13251405      
intronic 119118582 C T forward           DBSNP:rs13251696      
intronic 119118613 G T forward           DBSNP:rs2124959      
intronic 119118666 C T forward           DBSNP:rs11562729      
intronic 119118955 A G reverse           DBSNP:rs1062307      
intronic 119119263 G T forward           DBSNP:rs10105934      
intronic 119119300 A G forward           DBSNP:rs12541849      
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 119119732 A T reverse           DBSNP:rs881989      
intronic 119120020 A G forward           DBSNP:rs11562699      
intronic 119120099 A G forward           DBSNP:rs10955850      
intronic 119120351 C T forward           DBSNP:rs11562661      
intronic 119120583 C T forward           DBSNP:rs11562765      
intronic 119121048 A C forward           DBSNP:rs11562728      
intronic 119121168 A G forward           DBSNP:rs10106128      
intronic 119121698 C T forward           DBSNP:rs11562764      
intronic 119121703 A C forward           DBSNP:rs10505324      
intronic 119123225 C G forward           DBSNP:rs13282822      
intronic 119123553 C T forward           DBSNP:rs11562727      
intronic 119124004 C T forward           DBSNP:rs12544344      
intronic 119124167 C T forward           DBSNP:rs11562763      
intronic 119124753 C T forward           DBSNP:rs11562698      
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 119125984 C T forward           DBSNP:rs13271950      
intronic 119126122 C T forward           DBSNP:rs13277304      
intronic 119126248 C T forward           DBSNP:rs13277610      
intronic 119127163 A G forward           DBSNP:rs11562726      
intronic 119127175 C G forward           DBSNP:rs11562686      
intronic 119127555 G T forward           DBSNP:rs13255403      
intronic 119127629 C T forward           DBSNP:rs11562815      
intronic 119127715 G T forward           DBSNP:rs10505325      
intronic 119127764 C T forward           DBSNP:rs11562762      
intronic 119127810 C G forward           DBSNP:rs11562679      
intronic 119127988 C T forward           DBSNP:rs11562725      
intronic 119128395 C G forward           DBSNP:rs11562761      
intronic 119128702 C T forward           DBSNP:rs9650073      
intronic 119129945 C T forward           DBSNP:rs11562724      
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 119130452 A G forward           DBSNP:rs11562697      
intronic 119131800 C T forward           DBSNP:rs11562723      
intronic 119132898 C T forward           DBSNP:rs10088107      
intronic 119133277 A G reverse           DBSNP:rs2607581      
intronic 119133411 A G reverse           DBSNP:rs2607580      
intronic 119133435 A G forward           DBSNP:rs10104745      
intronic 119133880 A C forward           DBSNP:rs1020916      
intronic 119133983 A T forward           DBSNP:rs11562760      
intronic 119134434 C T forward           DBSNP:rs10095646      
intronic 119135212 A T forward           DBSNP:rs10099230      
intronic 119136142 C T forward           DBSNP:rs10088241      
intronic 119136662 A C forward           DBSNP:rs10088828      
intronic 119137272 C T forward           DBSNP:rs11562759      
intronic 119137457 A G forward           DBSNP:rs13264371      
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 119137790 C T forward           DBSNP:rs10955851      
intronic 119137969 C T forward           DBSNP:rs10955852      
intronic 119138251 C T forward           DBSNP:rs11562758      
intronic 119138315 C T forward           DBSNP:rs11562696      
intronic 119138599 C T forward           DBSNP:rs11562670      
intronic 119139391 A C forward           DBSNP:rs1262889      
intronic 119140558 A C forward           DBSNP:rs11562685      
intronic 119140589 C G forward           DBSNP:rs11562814      
intronic 119141629 G T forward           DBSNP:rs11562722      
intronic 119142722 C T forward           DBSNP:rs11562757      
intronic 119143758 C T forward           DBSNP:rs10505326      
intronic 119144281 A G reverse           DBSNP:rs2451160      
intronic 119145681 C T forward           DBSNP:rs4876787      
intronic 119146487 C T reverse           DBSNP:rs1824175      
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 119147430 C T forward           DBSNP:rs2514754      
intronic 119147896 A C forward           DBSNP:rs10111580      
intronic 119148377 A G reverse           DBSNP:rs2451157      
intronic 119148434 C G reverse           DBSNP:rs2447542      
intronic 119148749 A G forward           DBSNP:rs2514755      
intronic 119149843 A G reverse           DBSNP:rs2447534      
intronic 119151124 A G forward           DBSNP:rs2514756      
intronic 119151174 C T forward           DBSNP:rs11562721      
intronic 119151258 A G forward           DBSNP:rs2255931      
intronic 119151344 A G reverse           DBSNP:rs2635282      
intronic 119151380 A G reverse           DBSNP:rs3885877      
intronic 119151385 C T reverse           DBSNP:rs1838      
intronic 119151409 A C reverse           DBSNP:rs1839      
intronic 119151502 C T reverse           DBSNP:rs2447532      
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 119153566 G T reverse           DBSNP:rs2447530      
intronic 119153701 A G reverse           DBSNP:rs2447529      
intronic 119154098 C T reverse           DBSNP:rs2468134      
intronic 119154388 C T forward           DBSNP:rs11562813      
intronic 119154596 A C reverse           DBSNP:rs2447528      
intronic 119154912 A G forward           DBSNP:rs2514716      
intronic 119155082 A G forward           DBSNP:rs12548785      
intronic 119155125 C T reverse           DBSNP:rs2447543      
intronic 119155922 C G forward           DBSNP:rs13255534      
intronic 119156826 A G forward           DBSNP:rs2514717      
intronic 119157038 A G forward           DBSNP:rs2514718      
intronic 119158261 A C forward           DBSNP:rs1870100      
intronic 119158314 A C forward           DBSNP:rs3757989      
intronic 119158538 A G reverse           DBSNP:rs1124094      
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 119159581 A G forward           DBSNP:rs2635280      
intronic 119159641 A T forward           DBSNP:rs2635281      
intronic 119159805 A G forward           DBSNP:rs2445903      
intronic 119159870 A G forward           DBSNP:rs2514753      
intronic 119160247 C G forward           DBSNP:rs10955853      
intronic 119160349 A C forward           DBSNP:rs9297575      
intronic 119164639 C T forward           DBSNP:rs11562756      
intronic 119164688 C T forward           DBSNP:rs2445904      
intronic 119164928 C T forward           DBSNP:rs2468133      
intronic 119167173 A T reverse           DBSNP:rs1060540      
intronic 119167708 G T forward           DBSNP:rs10955854      
intronic 119168294 A T forward           DBSNP:rs10091500      
intronic 119168401 A G forward           DBSNP:rs12681362      
intronic 119168815 A G forward           DBSNP:rs2607568      
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 119169238 A C forward           DBSNP:rs2290704      
intronic 119169520 C T forward           DBSNP:rs11562812      
intronic 119169724 C T forward           DBSNP:rs2635278      
intronic 119169727 C T forward           DBSNP:rs2635279      
intronic 119169801 C T forward           DBSNP:rs3019106      
intronic 119169830 C T forward           DBSNP:rs3019107      
intronic 119169835 A G forward           DBSNP:rs2932182      
intronic 119170374 C T forward           DBSNP:rs2468150      
intronic 119171935 A G reverse           DBSNP:rs2451131      
intronic 119171973 C T reverse           DBSNP:rs2451130      
intronic 119172132 C T reverse           DBSNP:rs2635277      
intronic 119172150 C T reverse           DBSNP:rs2635276      
intronic 119172159 A C forward           DBSNP:rs2607570      
intronic 119172192 A G reverse           DBSNP:rs2932181      
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 119172387 C G forward           DBSNP:rs2514738      
intronic 119173211 A C forward           DBSNP:rs11785048      
intronic 119173284 A G forward           DBSNP:rs2956390      
intronic 119173502 A G forward           DBSNP:rs2514744      
intronic 119173554 A C forward           DBSNP:rs2514745      
intronic 119173827 C T forward           DBSNP:rs2445905      
intronic 119175527 C T forward           DBSNP:rs2445906      
intronic 119175946 A T forward           DBSNP:rs2468152      
intronic 119176025 A T forward           DBSNP:rs2445907      
intronic 119176146 A G forward           DBSNP:rs11984755      
intronic 119176232 A G forward           DBSNP:rs11992017      
intronic 119176615 A G forward           DBSNP:rs921957      
intronic 119176942 C T forward           DBSNP:rs11562811      
intronic 119176948 C T forward           DBSNP:rs11562755      
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 119178044 A G forward           DBSNP:rs13270513      
intronic 119178080 A G forward           DBSNP:rs13270538      
intronic 119178098 A G forward           DBSNP:rs13271312      
intronic 119178100 A G forward           DBSNP:rs9772531      
intronic 119178832 A G forward           DBSNP:rs1811528      
intronic 119178973 C T forward           DBSNP:rs10453076      
intronic 119179720 A G forward           DBSNP:rs897828      
intronic 119180358 C T forward           DBSNP:rs897829      
intronic 119180417 C T forward           DBSNP:rs897830      
intronic 119180708 C T forward           DBSNP:rs10505327      
intronic 119181169 A G forward           DBSNP:rs12678565      
intronic 119181431 C T forward           DBSNP:rs2451133      
intronic 119181840 C T forward           DBSNP:rs11562810      
intronic 119182259 A G forward           DBSNP:rs2468139      
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 119182488 A G forward           DBSNP:rs2468140      
intronic 119183160 C T forward           DBSNP:rs2468137      
intronic 119183291 A G forward           DBSNP:rs4876400      
intronic 119183520 C T forward           DBSNP:rs2451124      
intronic 119183582 A G forward           DBSNP:rs11993845      
intronic 119183911 A G forward           DBSNP:rs2468138      
intronic 119185176 C T forward           DBSNP:rs11562695      
intronic 119185239 C T forward           DBSNP:rs12541473      
intronic 119185600 G T forward           DBSNP:rs10102634      
intronic 119187526 A G reverse           DBSNP:rs2468136      
intronic 119189260 C T forward           DBSNP:rs12675013      
intronic 119191218 A G reverse           DBSNP:rs3757991      

Last updated 28-Aug-2006

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