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