Hedgehog Signaling Pathway Database
 
Human Mutations - Extl1
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
          208 R>* N   DBSNP:rs12070889      
exostoses         379 N>H N   SWISS:VAR_012830   10480354  
          379 H>N N   DBSNP:rs11247847      
          382 L>L S   DBSNP:rs11247848      
          566 F>F S   DBSNP:rs1804708      
intronic 26034109 A G reverse           DBSNP:rs1938405      
intronic 26034145 G T forward           DBSNP:rs12124121      
intronic 26035524 C T forward           DBSNP:rs17163470      
intronic 26035614 C T forward           DBSNP:rs11582191      
intronic 26035730 A G forward           DBSNP:rs3008207      
intronic 26037509 A G forward           DBSNP:rs12072473      
intronic 26037571 A C forward           DBSNP:rs3008208      
intronic 26038421 A G forward           DBSNP:rs3008209      
intronic 26038545 A G forward           DBSNP:rs2975737      
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 26038570 A T forward           DBSNP:rs3008211    
intronic 26038576 A C forward           DBSNP:rs3008212    
intronic 26038885 C T forward           DBSNP:rs2736833    
intronic 26038949 A T forward           DBSNP:rs2736836    
intronic 26039246 A G forward           DBSNP:rs2736842    
intronic 26039329 C T forward           DBSNP:rs2736843    
intronic 26039330 A C reverse           DBSNP:rs2802326    
intronic 26039413 A G forward           DBSNP:rs4659402    
intronic 26039425 A C reverse           DBSNP:rs2802325    
intronic 26040192 A T reverse           DBSNP:rs2802324    
intronic 26040545 A G reverse           DBSNP:rs2802323    
intronic 26040623 A G reverse           DBSNP:rs2802322    
intronic 26041019 C T reverse           DBSNP:rs2275951    
intronic 26041320 A C forward           DBSNP:rs7413498    
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 26041997 C T reverse           DBSNP:rs2802321    
intronic 26042344 C T reverse           DBSNP:rs1938404    
intronic 26042464 C T forward           DBSNP:rs11585915    
intronic 26042471 A G reverse           DBSNP:rs2802320    
intronic 26042490 A G reverse           DBSNP:rs2802319    
intronic 26042525 C T reverse           DBSNP:rs2859760    
intronic 26042535 A G reverse           DBSNP:rs2802318    
intronic 26043347 A T forward           DBSNP:rs1343831    
intronic 26043364 A T forward           DBSNP:rs1343830    
intronic 26043388 A T forward           DBSNP:rs1343829    
intronic 26043616 A C reverse           DBSNP:rs2997454    
intronic 26044032 A T forward           DBSNP:rs2736834    
intronic 26044247 A T forward           DBSNP:rs2736835    
intronic 26044558 A G forward           DBSNP:rs3008213    
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 26044651 G T reverse           DBSNP:rs1938403    
intronic 26045084 A G forward           DBSNP:rs2736837    
intronic 26045361 G T forward           DBSNP:rs12130195    
intronic 26045671 C G reverse           DBSNP:rs2802316    
intronic 26045761 A G forward           DBSNP:rs2736838    
Untranslated 26032616 A G forward           DBSNP:rs3008245    
Untranslated 26046004 G T forward           DBSNP:rs2736839    
Untranslated 26046007 A G forward           DBSNP:rs2736840    
Untranslated 26046013 G T forward           DBSNP:rs2736841    
Untranslated 26046143 C T forward           DBSNP:rs6665062    
Untranslated 26046336 A G reverse           DBSNP:rs2802315    
Untranslated 26046804 C T forward           DBSNP:rs1134759    
Untranslated 26046834 A G forward           DBSNP:rs1804707    

Last updated 28-Aug-2006

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