Hedgehog Signaling Pathway Database
 
Human Mutations - gpc3
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
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 391_403     del13       E2       Xuan, J. Y.; Hughes-Benzie, R. M.; MacKenzie, A. E. A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family. J. Med. Genet. 36: 57-58, 1999.
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1       delexon7       E7       Veugelers, M.; De Cat, B.; Muyldermans, S. Y.; Reekmans, G.; Delande, N.; Frints, S.; Legius, E.; Fryns, J.-P.; Schrander-Stumpel, C.; Weidle, B.; Magdalena, N.; David, G. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum. Molec. Genet. 9: 1321-1328, 2000.
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 1076 T A     W > R 296 N         Veugelers, M.; De Cat, B.; Muyldermans, S. Y.; Reekmans, G.; Delande, N.; Frints, S.; Legius, E.; Fryns, J.-P.; Schrander-Stumpel, C.; Weidle, B.; Magdalena, N.; David, G. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum. Molec. Genet. 9: 1321-1328, 2000.
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1   G T           E5       Veugelers, M.; De Cat, B.; Muyldermans, S. Y.; Reekmans, G.; Delande, N.; Frints, S.; Legius, E.; Fryns, J.-P.; Schrander-Stumpel, C.; Weidle, B.; Magdalena, N.; David, G. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum. Molec. Genet. 9: 1321-1328, 2000.
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 785 C T     R > X 199 N         Veugelers, M.; De Cat, B.; Muyldermans, S. Y.; Reekmans, G.; Delande, N.; Frints, S.; Legius, E.; Fryns, J.-P.; Schrander-Stumpel, C.; Weidle, B.; Magdalena, N.; David, G.Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum. Molec. Genet. 9: 1321-1328, 2000.
WILMS TUMOR 558 C T     H > W   N E3       White, G. R. M.; Kelsey, A. M.; Varley, J. M.; Birch, J. M. Somatic glypican 3 (GPC3) mutations in Wilms' tumour. Brit. J. Cancer 86: 1920-1922, 2002.
WILMS TUMOR 1902 G A     A > T   N E8       White, G. R. M.; Kelsey, A. M.; Varley, J. M.; Birch, J. M. Somatic glypican 3 (GPC3) mutations in Wilms' tumour. Brit. J. Cancer 86: 1920-1922, 2002.
          V >  L 290 N   DBSNP:rs12833292      
          E > K 291 N   DBSNP:rs12833276      
          V > L 516 N   DBSNP:rs1803692      
          M > I 568 N   DBSNP:rs1803691      
          F > F 41 S   DBSNP:rs11539790      
          L > L 323 S   DBSNP:rs11539788      
          D > D 500 S   DBSNP:rs2314298      
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 132400812 A C forward           DBSNP:rs5977890      
intronic 132405218 A C forward           DBSNP:rs8181240      
intronic 132406352 G T forward           DBSNP:rs12851509      
intronic 132407556 C T forward           DBSNP:rs5933327      
intronic 132407641 C T forward           DBSNP:rs17251454      
intronic 132413797 G T forward           DBSNP:rs7892610      
intronic 132415332 C T forward           DBSNP:rs5977891      
intronic 132416200 A T forward           DBSNP:rs12835005      
intronic 132417537 C G forward           DBSNP:rs7061117      
intronic 132419302 C T forward           DBSNP:rs17277749      
intronic 132419707 A G forward           DBSNP:rs7052433      
intronic 132420621 A G forward           DBSNP:rs17000459      
intronic 132421674 C T forward           DBSNP:rs7876841      
intronic 132424577 A G forward           DBSNP:rs5975414      
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 132425493 C T forward           DBSNP:rs7052112      
intronic 132426673 A C forward           DBSNP:rs12850814      
intronic 132427925 C G forward           DBSNP:rs5933328      
intronic 132429826 C T forward           DBSNP:rs7059621      
intronic 132432940 C T forward           DBSNP:rs5977892      
intronic 132433903 A G forward           DBSNP:rs5977893      
intronic 132436532 G T reverse           DBSNP:rs2872588      
intronic 132438011 G T forward           DBSNP:rs12832720      
intronic 132438044 C T forward           DBSNP:rs12854691      
intronic 132438089 A G forward           DBSNP:rs12856073      
intronic 132438252 A C forward           DBSNP:rs5933329      
intronic 132439598 A G forward           DBSNP:rs11797822      
intronic 132441129 C T forward           DBSNP:rs12850012      
intronic 132441130 G T forward           DBSNP:rs12858718      
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 132442967 A C forward           DBSNP:rs7889449      
intronic 132443009 C T forward           DBSNP:rs7876356      
intronic 132443067 C T forward           DBSNP:rs7892487      
intronic 132444375 A C forward           DBSNP:rs4829758      
intronic 132444466 A C forward           DBSNP:rs4829759      
intronic 132446722 C T forward           DBSNP:rs7878099      
intronic 132446856 C T forward           DBSNP:rs7891016      
intronic 132447904 A T forward           DBSNP:rs926228      
intronic 132451692 C T forward           DBSNP:rs7063592      
intronic 132451929 G T forward           DBSNP:rs7050231      
intronic 132451930 A T forward           DBSNP:rs7064423      
intronic 132452495 C T forward           DBSNP:rs6638106      
intronic 132452569 C T forward           DBSNP:rs6638107      
intronic 132452736 C G forward           DBSNP:rs6638108      
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 132453086 A G forward           DBSNP:rs6638110      
intronic 132453128 A G forward           DBSNP:rs6638111      
intronic 132454048 G T forward           DBSNP:rs7884831      
intronic 132457587 G T forward           DBSNP:rs4589024      
intronic 132458026 C T forward           DBSNP:rs7060551      
intronic 132458202 C T forward           DBSNP:rs6634933      
intronic 132460820 C T forward           DBSNP:rs5933330      
intronic 132464181 A T forward           DBSNP:rs5975415      
intronic 132466075 C T forward           DBSNP:rs7055287      
intronic 132467409 C G forward           DBSNP:rs7890088      
intronic 132471137 A T forward           DBSNP:rs17317371      
intronic 132471443 A T forward           DBSNP:rs16993049      
intronic 132473092 C T forward           DBSNP:rs7063970      
intronic 132475263 A G forward           DBSNP:rs5977897      
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 132477510 C G forward           DBSNP:rs7052524      
intronic 132477875 A G forward           DBSNP:rs5977898      
intronic 132480441 C G forward           DBSNP:rs7876556      
intronic 132481598 C T forward           DBSNP:rs12397883      
intronic 132482124 C G forward           DBSNP:rs12383262      
intronic 132486682 A G forward           DBSNP:rs5930624      
intronic 132486683 A T forward           DBSNP:rs5933331      
intronic 132486751 C T forward           DBSNP:rs1883122      
intronic 132489033 C T forward           DBSNP:rs5933332      
intronic 132489503 A G forward           DBSNP:rs12846105      
intronic 132489516 C G forward           DBSNP:rs12847818      
intronic 132489519 C T forward           DBSNP:rs12855457      
intronic 132491659 A T forward           DBSNP:rs5933333      
intronic 132492417 A T forward           DBSNP:rs7053232      
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 132492795 A C forward           DBSNP:rs3946161      
intronic 132493692 A G forward           DBSNP:rs3950192      
intronic 132494624 G T forward           DBSNP:rs5930625      
intronic 132495898 A G forward           DBSNP:rs5977901      
intronic 132499976 A G forward           DBSNP:rs17277770      
intronic 132500202 A C forward           DBSNP:rs12688478      
intronic 132500543 A G forward           DBSNP:rs2267500      
intronic 132500892 C T forward           DBSNP:rs12393261      
intronic 132504075 G T forward           DBSNP:rs12841091      
intronic 132506356 C G forward           DBSNP:rs17251489      
intronic 132507502 C G forward           DBSNP:rs7052366      
intronic 132507857 A G forward           DBSNP:rs5933335      
intronic 132508606 A G forward           DBSNP:rs5977902      
intronic 132508953 C G forward           DBSNP:rs12862989      
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 132512152 C G forward           DBSNP:rs6529584      
intronic 132512266 A G forward           DBSNP:rs17000462      
intronic 132514266 A C forward           DBSNP:rs12394400      
intronic 132515054 G T reverse           DBSNP:rs2313924      
intronic 132519582 A G forward           DBSNP:rs12013027      
intronic 132520670 C T forward           DBSNP:rs5977903      
intronic 132521190 C T forward           DBSNP:rs12014669      
intronic 132521201 C T forward           DBSNP:rs12859270      
intronic 132523075 C T forward           DBSNP:rs2284120      
intronic 132523076 C T reverse           DBSNP:rs2872469      
intronic 132523201 A G reverse           DBSNP:rs2313923      
intronic 132524614 A G forward           DBSNP:rs7884221      
intronic 132524899 A T forward           DBSNP:rs17000463      
intronic 132525889 C T forward           DBSNP:rs7051070      
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 132526850 G T forward           DBSNP:rs12010084      
intronic 132527366 C G forward           DBSNP:rs6638115      
intronic 132529414 C T forward           DBSNP:rs7887761      
intronic 132529416 A T forward           DBSNP:rs7884033      
intronic 132529629 A C forward           DBSNP:rs2267504      
intronic 132529660 C T forward           DBSNP:rs7883943      
intronic 132530799 C T forward           DBSNP:rs11549850      
intronic 132532867 A T forward           DBSNP:rs7885776      
intronic 132533356 A G forward           DBSNP:rs2267505      
intronic 132537814 A G forward           DBSNP:rs17000464      
intronic 132538513 C T forward           DBSNP:rs17000465      
intronic 132540671 A C forward           DBSNP:rs12847300      
intronic 132542211 C T forward           DBSNP:rs2205704      
intronic 132543853 A G forward           DBSNP:rs7066975      
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 132545174 A C forward           DBSNP:rs1012050      
intronic 132546698 A G forward           DBSNP:rs6638118      
intronic 132546932 G T forward           DBSNP:rs12845512      
intronic 132548003 A T forward           DBSNP:rs17000466      
intronic 132548684 C G forward           DBSNP:rs7064654      
intronic 132549802 C T forward           DBSNP:rs7056342      
intronic 132551241 A G forward           DBSNP:rs12846853      
intronic 132551259 A G forward           DBSNP:rs6638119      
intronic 132551265 G T forward           DBSNP:rs12852828      
intronic 132551302 G T forward           DBSNP:rs12852867      
intronic 132551331 A C forward           DBSNP:rs12846920      
intronic 132551817 C T forward           DBSNP:rs17000468      
intronic 132552207 A T forward           DBSNP:rs1997640      
intronic 132552459 C T forward           DBSNP:rs7053076      
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 132555379 G T forward           DBSNP:rs879941      
intronic 132556306 A G forward           DBSNP:rs7049652      
intronic 132556817 G T forward           DBSNP:rs7055943      
intronic 132559832 C T forward           DBSNP:rs7050708      
intronic 132559911 C T forward           DBSNP:rs7055292      
intronic 132560591 C T forward           DBSNP:rs12853805      
intronic 132561450 C T forward           DBSNP:rs7890500      
intronic 132562093 A G forward           DBSNP:rs7065446      
intronic 132562307 A G forward           DBSNP:rs12006746      
intronic 132563986 A G forward           DBSNP:rs7052290      
intronic 132564596 A G forward           DBSNP:rs7058452      
intronic 132565310 A G forward           DBSNP:rs17000475      
intronic 132565519 A G forward           DBSNP:rs17251516      
intronic 132570805 A T forward           DBSNP:rs5975420      
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 132572944 A T forward           DBSNP:rs2205705      
intronic 132573609 A G forward           DBSNP:rs12396801      
intronic 132574429 A G forward           DBSNP:rs12833640      
intronic 132577208 C G forward           DBSNP:rs6638122      
intronic 132584069 A G forward           DBSNP:rs7876682      
intronic 132584679 G T forward           DBSNP:rs7056347      
intronic 132586437 A T forward           DBSNP:rs7888106      
intronic 132587710 C T forward           DBSNP:rs7884345      
intronic 132589576 A G forward           DBSNP:rs5975421      
intronic 132589749 A G forward           DBSNP:rs7877771      
intronic 132590792 C T forward           DBSNP:rs7060121      
intronic 132596355 C T forward           DBSNP:rs4504811      
intronic 132597450 C T forward           DBSNP:rs5933340      
intronic 132599242 A C forward           DBSNP:rs4830272      
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 132603665 A C forward           DBSNP:rs7472748      
intronic 132603830 C T forward           DBSNP:rs11096379      
intronic 132604886 C T forward           DBSNP:rs7889834      
intronic 132605242 C T forward           DBSNP:rs17000484      
intronic 132605476 A G forward           DBSNP:rs7876323      
intronic 132607650 A G forward           DBSNP:rs12156774      
intronic 132610346 A C forward           DBSNP:rs11795800      
intronic 132616823 C T forward           DBSNP:rs12687072      
intronic 132618163 A G forward           DBSNP:rs7888783      
intronic 132619652 A C forward           DBSNP:rs7050758      
intronic 132621837 A C forward           DBSNP:rs12686945      
intronic 132623239 C T forward           DBSNP:rs12689705      
intronic 132625773 A C forward           DBSNP:rs7888794      
intronic 132625886 A G forward           DBSNP:rs12558298      
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 132626813 A C forward           DBSNP:rs5977910      
intronic 132626879 C G forward           DBSNP:rs5933346      
intronic 132627183 C G forward           DBSNP:rs5977911      
intronic 132629389 A G forward           DBSNP:rs12689690      
intronic 132630408 A C forward           DBSNP:rs12858165      
intronic 132630931 C T forward           DBSNP:rs4830273      
intronic 132631722 A G forward           DBSNP:rs12393825      
intronic 132632210 A T reverse           DBSNP:rs2313922      
intronic 132634053 A G forward           DBSNP:rs2205703      
intronic 132639320 A T forward           DBSNP:rs7065940      
intronic 132641272 C T forward           DBSNP:rs7058178      
intronic 132644967 A T forward           DBSNP:rs4477180      
intronic 132646868 A G forward           DBSNP:rs7888517      
intronic 132647667 A G forward           DBSNP:rs12847191      
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 132647858 A C forward           DBSNP:rs2267507      
intronic 132649046 A G forward           DBSNP:rs2267508      
intronic 132651382 C T forward           DBSNP:rs12850639      
intronic 132651398 C T forward           DBSNP:rs7885813      
intronic 132652112 C T forward           DBSNP:rs926596      
intronic 132652230 A G forward           DBSNP:rs4140592      
intronic 132653206 C T forward           DBSNP:rs5933347      
intronic 132653678 A G reverse           DBSNP:rs2872468      
intronic 132653782 C T forward           DBSNP:rs5975422      
intronic 132653805 C G forward           DBSNP:rs7052640      
intronic 132654259 C G forward           DBSNP:rs5977912      
intronic 132655481 G T forward           DBSNP:rs7892416      
intronic 132655527 G T forward           DBSNP:rs7892431      
intronic 132655561 C T forward           DBSNP:rs7892531      
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 132655722 C G forward           DBSNP:rs4829761      
intronic 132655839 C T forward           DBSNP:rs7876063      
intronic 132656575 A G reverse           DBSNP:rs764519      
intronic 132656695 C G forward           DBSNP:rs4384145      
intronic 132657209 C G forward           DBSNP:rs5977913      
intronic 132657703 A C forward           DBSNP:rs5975423      
intronic 132658629 A T forward           DBSNP:rs6638128      
intronic 132658658 A G forward           DBSNP:rs7888283      
intronic 132659861 A G forward           DBSNP:rs5975424      
intronic 132660050 A G forward           DBSNP:rs12845265      
intronic 132660566 C T forward           DBSNP:rs5977914      
intronic 132661259 C T forward           DBSNP:rs4829762      
intronic 132662142 C T forward           DBSNP:rs7889223      
intronic 132662622 C T forward           DBSNP:rs4829763      
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 132663558 C G forward           DBSNP:rs12846832      
intronic 132667010 G T forward           DBSNP:rs5977915      
intronic 132667543 C G forward           DBSNP:rs1908817      
intronic 132668361 C T forward           DBSNP:rs10429739      
intronic 132670325 A G forward           DBSNP:rs12009725      
intronic 132670858 A G forward           DBSNP:rs2267509      
intronic 132671694 A T forward           DBSNP:rs12008879      
intronic 132671731 C G forward           DBSNP:rs12012181      
intronic 132671926 C T forward           DBSNP:rs13440964      
intronic 132671999 A T forward           DBSNP:rs13440580      
intronic 132672738 C G forward           DBSNP:rs7878791      
intronic 132674094 G T forward           DBSNP:rs7891500      
intronic 132674572 C T forward           DBSNP:rs5975425      
intronic 132674584 A G forward           DBSNP:rs1610691      
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 132676878 C G forward           DBSNP:rs6634938      
intronic 132677134 C T forward           DBSNP:rs1610690      
intronic 132677473 A G forward           DBSNP:rs1610689      
intronic 132678930 C T forward           DBSNP:rs5975426      
intronic 132680324 A G forward           DBSNP:rs7064240      
intronic 132680471 A G forward           DBSNP:rs12388486      
intronic 132684443 C T forward           DBSNP:rs7880755      
intronic 132686691 C T forward           DBSNP:rs11795485      
intronic 132686897 C T forward           DBSNP:rs7060866      
intronic 132687163 C T forward           DBSNP:rs10482341      
intronic 132687770 C G forward           DBSNP:rs12383249      
intronic 132688166 C T forward           DBSNP:rs5975427      
intronic 132688394 G T forward           DBSNP:rs11796887      
intronic 132689687 C G forward           DBSNP:rs11797814      
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 132690310 A G forward           DBSNP:rs5933348      
intronic 132691568 A G forward           DBSNP:rs5977918      
intronic 132692145 C G reverse           DBSNP:rs2032532      
intronic 132692960 A C forward           DBSNP:rs11096380      
intronic 132694691 A G forward           DBSNP:rs7056822      
intronic 132694702 C G forward           DBSNP:rs7055165      
intronic 132695127 C T forward           DBSNP:rs7060493      
intronic 132695182 C T forward           DBSNP:rs7060636      
intronic 132695718 C T forward           DBSNP:rs5977919      
intronic 132696997 C T forward           DBSNP:rs5975428      
intronic 132697495 A G forward           DBSNP:rs5977920      
intronic 132699191 G T forward           DBSNP:rs12844158      
intronic 132700713 A G reverse           DBSNP:rs1908818      
intronic 132700788 A C reverse           DBSNP:rs1272890      
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 132701420 A C forward           DBSNP:rs5977922      
intronic 132701917 C T forward           DBSNP:rs5977923      
intronic 132702295 C T forward           DBSNP:rs5975429      
intronic 132706575 C T reverse           DBSNP:rs1908816      
intronic 132706875 C T reverse           DBSNP:rs1264238      
intronic 132708202 A C forward           DBSNP:rs5977924      
intronic 132708569 C G forward           DBSNP:rs5975430      
intronic 132708632 A G reverse           DBSNP:rs1874549      
intronic 132708658 A T forward           DBSNP:rs12010948      
intronic 132708751 C G forward           DBSNP:rs12014215      
intronic 132708772 A G forward           DBSNP:rs6638130      
intronic 132708786 C G forward           DBSNP:rs6638131      
intronic 132708795 A C forward           DBSNP:rs12010111      
intronic 132708845 A C forward           DBSNP:rs6638132      
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 132709834 A C forward           DBSNP:rs1801062      
intronic 132711550 A G forward           DBSNP:rs5975431      
intronic 132712618 A C forward           DBSNP:rs5975432      
intronic 132712857 C T forward           DBSNP:rs12860457      
intronic 132713271 A G forward           DBSNP:rs5975433      
intronic 132714176 C T forward           DBSNP:rs1003856      
intronic 132714744 A G reverse           DBSNP:rs2132717      
intronic 132714956 C T reverse           DBSNP:rs2132716      
intronic 132716018 G T reverse           DBSNP:rs1034446      
intronic 132717601 A G forward           DBSNP:rs6634939      
intronic 132718500 C T forward           DBSNP:rs5977925      
intronic 132719433 C G forward           DBSNP:rs6638134      
intronic 132719718 C T forward           DBSNP:rs2267511      
intronic 132720184 A G forward           DBSNP:rs2267512      
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 132720887 A G forward           DBSNP:rs2267514      
intronic 132720949 C T forward           DBSNP:rs12010646      
intronic 132721097 A T forward           DBSNP:rs2267515      
intronic 132723366 C G forward           DBSNP:rs12353608      
intronic 132724633 C G forward           DBSNP:rs2267516      
intronic 132726533 C T forward           DBSNP:rs6529591      
intronic 132727561 A G forward           DBSNP:rs5977927      
intronic 132727740 A G forward           DBSNP:rs7887363      
intronic 132729230 C T forward           DBSNP:rs2284123      
intronic 132729359 A G forward           DBSNP:rs6634940      
intronic 132733144 A G forward           DBSNP:rs6529592      
intronic 132735311 C T forward           DBSNP:rs12007324      
intronic 132735352 A G reverse           DBSNP:rs933250      
intronic 132737511 G T forward           DBSNP:rs6634941      
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 132741026 A G forward           DBSNP:rs2267518      
intronic 132741788 A G forward           DBSNP:rs2267519      
intronic 132743775 C T forward           DBSNP:rs11797521      
intronic 132743812 C G forward