Hedgehog Signaling Pathway Database
 
Human Mutations - ext2
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
EXT2 784_787     del4             8782816 Stickens, D.; Clines, G.; Burbee, D.; Ramos, P.; Thomas, S.; Hogue, D.; Hecht, J. T.; Lovett, M.; Evans, G. A. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nature Genet. 14: 25-32, 1996.
EXT2 514 C T     Q > X 172 N       8894688 Wuyts, W.; Van Hul, W.; Wauters, J.; Nemtsova, M.; Reyniers, E.; Van Hul, E.; De Boulle, K.; de Vries, B. B. A.; Hendrickx, J.; Herrygers, I.; Bossuyt, P.; Balemans, W.; Fransen, E.; Vits, L.; Coucke, P.; Nowak, N. J.; Shows, T. B.; Mallet, L.; van den Ouweland, A. M. W.; McGaughran, J.; Halley, D. J. J.; Willems, P. J. Positional cloning of a gene involved in hereditary multiple exostoses. Hum. Molec. Genet. 5: 1547-1557, 1996.
EXT2   G A   IVSDS             8894688 Wuyts, W.; Van Hul, W.; Wauters, J.; Nemtsova, M.; Reyniers, E.; Van Hul, E.; De Boulle, K.; de Vries, B. B. A.; Hendrickx, J.; Herrygers, I.; Bossuyt, P.; Balemans, W.; Fransen, E.; Vits, L.; Coucke, P.; Nowak, N. J.; Shows, T. B.; Mallet, L.; van den Ouweland, A. M. W.; McGaughran, J.; Halley, D. J. J.; Willems, P. J. Positional cloning of a gene involved in hereditary multiple exostoses. Hum. Molec. Genet. 5: 1547-1557, 1996.
EXT2   G A     D > N 227 N E4 SWISS:VAR_002378   9326317 11169766 11432960 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.
EXT2   C G     Y > X 222 N E4     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.
EXT2         M > V 42 N   DBSNP:rs4755779      
EXT2         C > R 85 N   SWISS:VAR_012823   10429361  
EXT2         L > R 152 N   SWISS:VAR_012824   10480354  
EXT2         R > S 179 N   SWISS:VAR_012825   11432960  
EXT2         A > V 202 N   SWISS:VAR_012826   11170095  
EXT2         R > P 223 N   SWISS:VAR_012827   10738008  
EXT2         I > T 380 N   SWISS:VAR_012828   11668521  
          E > * 548 N   DBSNP:rs1804679      
osteochondroma         E > K 576 N   SWISS:VAR_012829   11668521  
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
          C > C 339 S   DBSNP:rs11828047      
          T > T 587 S   DBSNP:rs16937864      
intronic 44086506 C G forward           DBSNP:rs4755780      
intronic 44087930 C T forward           DBSNP:rs10838235      
intronic 44090259 C T forward           DBSNP:rs7107948      
intronic 44090717 A G forward           DBSNP:rs7111879      
intronic 44090875 C T forward           DBSNP:rs11037867      
intronic 44091183 C T forward           DBSNP:rs11037868      
intronic 44091492 A G forward           DBSNP:rs11037869      
intronic 44092570 C T forward           DBSNP:rs11606743      
intronic 44093612 A G forward           DBSNP:rs11825970      
intronic 44093796 G T reverse           DBSNP:rs4237646      
intronic 44093819 G T forward           DBSNP:rs11037870      
intronic 44094345 C G forward           DBSNP:rs12807350      
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 44095577 A C forward           DBSNP:rs10769016      
intronic 44095637 A C forward           DBSNP:rs11037872      
intronic 44095935 A T forward           DBSNP:rs7948065      
intronic 44096970 A G forward           DBSNP:rs12365900      
intronic 44097252 A T forward           DBSNP:rs12421892      
intronic 44097265 C T forward           DBSNP:rs7484209      
intronic 44097293 C T forward           DBSNP:rs12576864      
intronic 44097295 C T forward           DBSNP:rs7484246      
intronic 44098426 A G forward           DBSNP:rs10838236      
intronic 44099226 C T forward           DBSNP:rs10769017      
intronic 44099293 A C forward           DBSNP:rs11037873      
intronic 44099510 C T forward           DBSNP:rs7935138      
intronic 44100551 C G forward           DBSNP:rs12801050      
intronic 44101219 A G forward           DBSNP:rs7102268      
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 44102164 A C reverse           DBSNP:rs4494297      
intronic 44102833 A G forward           DBSNP:rs10769018      
intronic 44103426 C G forward           DBSNP:rs11037875      
intronic 44103639 A G forward           DBSNP:rs11037876      
intronic 44104238 C T forward           DBSNP:rs4755781      
intronic 44105786 A T reverse           DBSNP:rs4601765      
intronic 44107148 C T forward           DBSNP:rs7927847      
intronic 44107557 A G forward           DBSNP:rs11037880      
intronic 44107800 A G reverse           DBSNP:rs4445622      
intronic 44108033 C T forward           DBSNP:rs7125352      
intronic 44108056 G T forward           DBSNP:rs11037881      
intronic 44108153 A T forward           DBSNP:rs11037882      
intronic 44108638 G T forward           DBSNP:rs10838237      
intronic 44109582 C T forward           DBSNP:rs7117287      
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 44110808 C T forward           DBSNP:rs11037883      
intronic 44111859 A G forward           DBSNP:rs11600929      
intronic 44112011 C T forward           DBSNP:rs10838239      
intronic 44112201 A G forward           DBSNP:rs11600984      
intronic 44112227 C T forward           DBSNP:rs7947962      
intronic 44112401 G T forward           DBSNP:rs11037884      
intronic 44112521 C T forward           DBSNP:rs7951082      
intronic 44113600 A C forward           DBSNP:rs7103975      
intronic 44113931 A G forward           DBSNP:rs7104597      
intronic 44114729 C G forward           DBSNP:rs7108467      
intronic 44115014 C T reverse           DBSNP:rs4379834      
intronic 44118877 G T forward           DBSNP:rs10769019      
intronic 44119149 C T forward           DBSNP:rs10838240      
intronic 44119655 A C forward           DBSNP:rs11827237      
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 44120393 C T forward           DBSNP:rs7945699      
intronic 44120413 C T forward           DBSNP:rs7945703      
intronic 44121214 A G forward           DBSNP:rs12226259      
intronic 44121476 C T forward           DBSNP:rs7131562      
intronic 44121715 A G forward           DBSNP:rs10458912      
intronic 44122071 A T forward           DBSNP:rs11037885      
intronic 44124572 C T forward           DBSNP:rs4755782      
intronic 44124775 A C forward           DBSNP:rs4755229      
intronic 44125755 C T forward           DBSNP:rs12161764      
intronic 44125832 A G forward           DBSNP:rs12795970      
intronic 44125852 A C forward           DBSNP:rs7110339      
intronic 44125918 G T forward           DBSNP:rs11037886      
intronic 44126317 C T reverse           DBSNP:rs4515957      
intronic 44126365 A G reverse           DBSNP:rs4338508      
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 44126835 A G forward           DBSNP:rs7114988      
intronic 44127521 A T forward           DBSNP:rs7118541      
intronic 44127725 C T forward           DBSNP:rs4755783      
intronic 44128032 A G reverse           DBSNP:rs4551754      
intronic 44129174 A G forward           DBSNP:rs7124027      
intronic 44129632 C T forward           DBSNP:rs7127308      
intronic 44130254 A T forward           DBSNP:rs7935872      
intronic 44130653 C T forward           DBSNP:rs7939191      
intronic 44130657 A G forward           DBSNP:rs11037887      
intronic 44130723 C T forward           DBSNP:rs7397039      
intronic 44130753 A G forward           DBSNP:rs12288588      
intronic 44130960 A G forward           DBSNP:rs11037888      
intronic 44130988 G T forward           DBSNP:rs11826505      
intronic 44131178 A G forward           DBSNP:rs11037889      
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 44132051 G T forward           DBSNP:rs11037891      
intronic 44132091 A G forward           DBSNP:rs11822458      
intronic 44132518 A G forward           DBSNP:rs10769020      
intronic 44132977 G T forward           DBSNP:rs7126424      
intronic 44133630 A T forward           DBSNP:rs4755785      
intronic 44133813 A C forward           DBSNP:rs7114287      
intronic 44133911 A G forward           DBSNP:rs7114784      
intronic 44134770 A G forward           DBSNP:rs7481821      
intronic 44137244 C T reverse           DBSNP:rs4531453      
intronic 44137604 A G forward           DBSNP:rs7930973      
intronic 44137897 C G forward           DBSNP:rs11037892      
intronic 44138593 A G forward           DBSNP:rs3935072      
intronic 44139059 A T reverse           DBSNP:rs3935820      
intronic 44139234 A C forward           DBSNP:rs7935603      
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 44140920 A G forward           DBSNP:rs4755230      
intronic 44141105 C G forward           DBSNP:rs4755786      
intronic 44141654 G T reverse           DBSNP:rs4447163      
intronic 44142364 A G forward           DBSNP:rs6485497      
intronic 44142427 C G forward           DBSNP:rs10047416      
intronic 44142492 C T forward           DBSNP:rs12223543      
intronic 44143478 G T forward           DBSNP:rs7926857      
intronic 44143487 C T forward           DBSNP:rs7941646      
intronic 44143978 C T forward           DBSNP:rs7120534      
intronic 44144914 G T forward           DBSNP:rs7124778      
intronic 44145241 C T forward           DBSNP:rs11037893      
intronic 44146150 A G forward           DBSNP:rs10838241      
intronic 44146245 A G forward           DBSNP:rs7121164      
intronic 44146487 A G forward           DBSNP:rs12283944      
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 44148276 C T forward           DBSNP:rs11037894      
intronic 44148791 A G forward           DBSNP:rs12276069      
intronic 44148973 C G forward           DBSNP:rs7926063      
intronic 44149283 A G forward           DBSNP:rs4755787      
intronic 44149380 A G forward           DBSNP:rs12289433      
intronic 44149467 A C forward           DBSNP:rs4755788      
intronic 44150122 C G forward           DBSNP:rs12791572      
intronic 44151260 A G forward           DBSNP:rs12798405      
intronic 44151284 A T forward           DBSNP:rs7112070      
intronic 44151693 C T forward           DBSNP:rs10838242      
intronic 44152056 A G forward           DBSNP:rs4755789      
intronic 44152151 A G forward           DBSNP:rs11037895      
intronic 44152695 C T forward           DBSNP:rs4755231      
intronic 44152731 A C forward           DBSNP:rs4755232      
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 44155540 A G forward           DBSNP:rs903511      
intronic 44155575 C G forward           DBSNP:rs903512      
intronic 44156870 C G forward           DBSNP:rs871504      
intronic 44156927 A T forward           DBSNP:rs903513      
intronic 44157144 A G forward           DBSNP:rs11607693      
intronic 44159070 C T forward           DBSNP:rs2863051      
intronic 44159158 A G reverse           DBSNP:rs4633459      
intronic 44159183 C T forward           DBSNP:rs2863052      
intronic 44159272 C T forward           DBSNP:rs7481862      
intronic 44159659 C T forward           DBSNP:rs9651617      
intronic 44159673 A G forward           DBSNP:rs10838243      
intronic 44159923 C T forward           DBSNP:rs11607454      
intronic 44160735 C T reverse           DBSNP:rs962848      
intronic 44161099 A C forward           DBSNP:rs2863053      
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 44163871 A T forward           DBSNP:rs2067786      
intronic 44164032 C T forward           DBSNP:rs2067787      
intronic 44164086 A G forward           DBSNP:rs2067788      
intronic 44164590 C G forward           DBSNP:rs11037896      
intronic 44164799 G T forward           DBSNP:rs11827968      
intronic 44165114 C T forward           DBSNP:rs12293185      
intronic 44165169 C T forward           DBSNP:rs11037897      
intronic 44165173 C T forward           DBSNP:rs12286255      
intronic 44165575 C T forward           DBSNP:rs10769021      
intronic 44166329 A G forward           DBSNP:rs4755790      
intronic 44166427 A G forward           DBSNP:rs12288338      
intronic 44167215 A G reverse           DBSNP:rs1390073      
intronic 44167904 A G forward           DBSNP:rs12792891      
intronic 44168473 G T forward           DBSNP:rs7121957      
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 44171994 C T forward           DBSNP:rs7120985      
intronic 44172125 C T forward           DBSNP:rs7121136      
intronic 44172754 C T forward           DBSNP:rs12271664      
intronic 44175223 C T forward           DBSNP:rs12295041      
intronic 44175862 C T forward           DBSNP:rs4755233      
intronic 44177353 A T forward           DBSNP:rs12795039      
intronic 44177358 A G forward           DBSNP:rs12795608      
intronic 44178214 C G forward           DBSNP:rs11037899      
intronic 44178278 A T reverse           DBSNP:rs1495120      
intronic 44178584 A G forward           DBSNP:rs12274543      
intronic 44178587 A G forward           DBSNP:rs12274545      
intronic 44179038 C G forward           DBSNP:rs16937856      
intronic 44179698 C T forward           DBSNP:rs7101851      
intronic 44180412 G T forward           DBSNP:rs16937857      
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 44181936 A G reverse           DBSNP:rs1495119      
intronic 44182159 G T forward           DBSNP:rs10769022      
intronic 44182759 C T forward           DBSNP:rs9783299      
intronic 44183766 A G forward           DBSNP:rs9988876      
intronic 44183852 C T reverse           DBSNP:rs1027378      
intronic 44184386 A C forward           DBSNP:rs7103777      
intronic 44184724 A G reverse           DBSNP:rs1027377      
intronic 44186224 C T forward           DBSNP:rs7119825      
intronic 44186438 A G forward           DBSNP:rs7120281      
intronic 44186878 C T forward           DBSNP:rs11037900      
intronic 44187160 A G forward           DBSNP:rs11828399      
intronic 44187928 C T forward           DBSNP:rs7949261      
intronic 44188119 C T reverse           DBSNP:rs1532354      
intronic 44189011 C T forward           DBSNP:rs4755234      
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 44189971 G T forward           DBSNP:rs7122331      
intronic 44190181 G T forward           DBSNP:rs6485500      
intronic 44190245 A G forward           DBSNP:rs7106479      
intronic 44190280 A G forward           DBSNP:rs6485501      
intronic 44190533 C T forward           DBSNP:rs6485503      
intronic 44190544 C T forward           DBSNP:rs7947477      
intronic 44191829 A G reverse           DBSNP:rs1532353      
intronic 44192250 C T forward           DBSNP:rs12788954      
intronic 44192612 A G reverse           DBSNP:rs1552929      
intronic 44193228 G T forward           DBSNP:rs7105238      
intronic 44194089 C T reverse           DBSNP:rs4256969      
intronic 44194154 G T reverse           DBSNP:rs4500475      
intronic 44194253 C T forward           DBSNP:rs6485504      
intronic 44194256 C T forward           DBSNP:rs6485505      
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 44196177 C G forward           DBSNP:rs12577376      
intronic 44196476 A C reverse           DBSNP:rs1495118      
intronic 44196549 C T forward           DBSNP:rs7113052      
intronic 44196875 A G forward           DBSNP:rs12280078      
intronic 44197054 A G forward           DBSNP:rs12365684      
intronic 44197292 A G forward           DBSNP:rs12293584      
intronic 44197341 C T forward           DBSNP:rs11037902      
intronic 44197358 A T forward           DBSNP:rs12274154      
intronic 44197653 A G forward           DBSNP:rs11037903      
intronic 44197746 C T forward           DBSNP:rs11037904      
intronic 44201253 C T reverse           DBSNP:rs1598078      
intronic 44201767 G T reverse           DBSNP:rs1908474      
intronic 44201798 C T forward           DBSNP:rs11037906      
intronic 44202056 A C forward           DBSNP:rs7104638      
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 44202513 A T forward           DBSNP:rs9736688      
intronic 44202576 A G forward           DBSNP:rs16937859      
intronic 44203040 C G forward           DBSNP:rs12577865      
intronic 44203075 A G forward           DBSNP:rs7109109      
intronic 44203306 A C forward           DBSNP:rs7109486      
intronic 44204831 C T reverse           DBSNP:rs355707      
intronic 44204844 A T reverse           DBSNP:rs355706      
intronic 44204942 A G reverse           DBSNP:rs355705      
intronic 44204972 A G reverse           DBSNP:rs355704      
intronic 44205286 A C reverse           DBSNP:rs4614438      
intronic 44205304 A C reverse           DBSNP:rs2034716      
intronic 44205402 C G forward           DBSNP:rs4755236      
intronic 44205560 A G reverse           DBSNP:rs4423172      
intronic 44205901 A G forward           DBSNP:rs869915      
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 44206354 G T reverse           DBSNP:rs2034715      
intronic 44206355 A G reverse           DBSNP:rs2034714      
intronic 44206357 A C reverse           DBSNP:rs2034713      
intronic 44206384 A T reverse           DBSNP:rs1809151      
intronic 44206388 A T reverse           DBSNP:rs1809150      
intronic 44206857 C T forward           DBSNP:rs7941184      
intronic 44207062 G T forward           DBSNP:rs7926638      
intronic 44207471 C T forward           DBSNP:rs16937862      
intronic 44207787 A G forward           DBSNP:rs11037907      
intronic 44207953 G T forward           DBSNP:rs12790182      
intronic 44209079 A G forward           DBSNP:rs10466399      
intronic 44209108 A G forward           DBSNP:rs11603056      
intronic 44209264 C G forward           DBSNP:rs10466400      
intronic 44209534 A G forward           DBSNP:rs11037908      
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 44209979 C G reverse           DBSNP:rs1113132      
intronic 44210075 C T reverse           DBSNP:rs4350353      
intronic 44210223 G T reverse           DBSNP:rs3824913      
intronic 44211556 C G forward           DBSNP:rs7945827      
intronic 44212190 C T forward           DBSNP:rs11037909      
intronic 44212433 A C reverse           DBSNP:rs4522159      
intronic 44213185 A T forward           DBSNP:rs10838246      
intronic 44213379 A C reverse           DBSNP:rs431658      
intronic 44213516 C T forward           DBSNP:rs7102471      
intronic 44213524 C T forward           DBSNP:rs2902400      
intronic 44213803 A C forward           DBSNP:rs7102763      
intronic 44214378 A G reverse           DBSNP:rs3740878      
intronic 44216045 G T reverse           DBSNP:rs1826714      
intronic 44216125 C T reverse           DBSNP:rs3885927      
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 44216179 A G reverse           DBSNP:rs1807763      
intronic 44216732 A G forward           DBSNP:rs12284486      
intronic 44216814 A T forward           DBSNP:rs12291385      
intronic 44217010 A G forward           DBSNP:rs7123648      
intronic 44217380 A G forward           DBSNP:rs11037911      
intronic 44217558 A G reverse           DBSNP:rs420876      
intronic 44218032 C T forward           DBSNP:rs11825667      
intronic 44218806 A C forward           DBSNP:rs11601524      
intronic 44219257 A G forward           DBSNP:rs1809799      
intronic 44219385 A G forward           DBSNP:rs903509      
intronic 44221074 C T reverse           DBSNP:rs897007      
intronic 44221284 A G forward           DBSNP:rs11037912      
intronic 44221475 A G forward           DBSNP:rs4755792      
intronic 44221688 C T forward           DBSNP:rs10742698      
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 44221898 A G forward           DBSNP:rs11037914      
intronic 44222260 C T forward           DBSNP:rs2902401      
untranslated 44073678 C T forward           DBSNP:rs10458911      
untranslated 44073698 C T reverse           DBSNP:rs3923808      
untranslated 44073948 C G forward           DBSNP:rs12800404      
untranslated 44074000 A G forward           DBSNP:rs12365753      
untranslated 44074020 A G forward           DBSNP:rs12362775      
untranslated 44074474 G T forward           DBSNP:rs11037860      
untranslated 44075643 A G reverse           DBSNP:rs4622246      
untranslated 44076603 C G forward           DBSNP:rs10838232      
untranslated 44077189 A G forward           DBSNP:rs7105476      
untranslated 44077382 G T forward           DBSNP:rs7928476      
untranslated 44077644 A G reverse           DBSNP:rs4418800      
untranslated 44078312 A T forward           DBSNP:rs12225147      
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 44079403 A G forward           DBSNP:rs7936373      
untranslated 44079568 A G forward           DBSNP:rs11606372      
untranslated 44079889 C T forward           DBSNP:rs12362372      
untranslated 44080078 A G forward           DBSNP:rs11037861      
untranslated 44080894 C T forward           DBSNP:rs4755777      
untranslated 44081480 C T forward           DBSNP:rs10838233      
untranslated 44081925 A G forward           DBSNP:rs7126566      
untranslated 44082116 C T forward           DBSNP:rs6485496      
untranslated 44082906 C T forward           DBSNP:rs7938320      
untranslated 44083460 C T forward           DBSNP:rs11037862      
untranslated 44083869 C G forward           DBSNP:rs11037863      
untranslated 44084621 A T forward           DBSNP:rs10838234      
untranslated 44084903 A C forward           DBSNP:rs12290998      
untranslated 44085662 A T forward           DBSNP:rs11037864      
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

Last updated 28-Aug-2006

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