Hedgehog Signaling Pathway Database
 
Human Mutations - Extl3
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
          L > P 706 N   DBSNP:rs2269452      
          T > T 268 S   DBSNP:rs17059326      
          P > P 409 S   DBSNP:rs240951      
          D > D 870 S   DBSNP:rs17059347      
Intronic 28632362 C G forward           DBSNP:rs17059329      
Intronic 28636732 C G forward           DBSNP:rs4732650      
Intronic 28637287 A G forward           DBSNP:rs10087413      
Intronic 28637311 C T forward           DBSNP:rs10090433      
Intronic 28637742 C T forward           DBSNP:rs4732651      
Intronic 28637815 A C forward           DBSNP:rs10104500      
Intronic 28638592 C T forward           DBSNP:rs13261585      
Intronic 28638868 G T forward           DBSNP:rs17059332      
Intronic 28639964 C G forward           DBSNP:rs10112482      
Intronic 28640113 A G forward           DBSNP:rs10111808      
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 28641123 C T reverse           DBSNP:rs2237814    
Intronic 28641371 A G reverse           DBSNP:rs2237813    
Intronic 28641955 A G reverse           DBSNP:rs2237812    
Intronic 28642704 C T forward           DBSNP:rs11778062    
Intronic 28642711 A C forward           DBSNP:rs11781604    
Intronic 28642758 C T forward           DBSNP:rs11782385    
Intronic 28644823 C T reverse           DBSNP:rs2071340    
Intronic 28647119 C T reverse           DBSNP:rs2665908    
Intronic 28648487 C T reverse           DBSNP:rs2283102    
Intronic 28651202 C T forward           DBSNP:rs17059333    
Intronic 28652576 A G forward           DBSNP:rs17442432    
Intronic 28653085 C T reverse           DBSNP:rs2237811    
Intronic 28653297 C G forward           DBSNP:rs17442460    
Intronic 28653481 C T reverse           DBSNP:rs736734    
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 28654198 A G forward           DBSNP:rs9314367    
Intronic 28654206 A C forward           DBSNP:rs4732870    
Intronic 28654599 A G forward           DBSNP:rs4732871    
Intronic 28654912 A G forward           DBSNP:rs4732872    
Intronic 28655426 C T forward           DBSNP:rs11784837    
Intronic 28656491 C G reverse           DBSNP:rs2048369    
Intronic 28657473 A C forward           DBSNP:rs4732873    
Intronic 28657876 C T forward           DBSNP:rs10103207    
Intronic 28658680 A G forward           DBSNP:rs17059340    
Intronic 28660710 C T forward           DBSNP:rs10448080    
Untranslated 28627721 A C forward           DBSNP:rs240950    
Untranslated 28627826 A C forward           DBSNP:rs13248618    
Untranslated 28627850 A C forward           DBSNP:rs13248850    
Untranslated 28627921 C T forward           DBSNP:rs13256434    
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 28665055 A G forward           DBSNP:rs10091907    
Untranslated 28665241 C T forward           DBSNP:rs17059353    
Untranslated 28665579 C T forward           DBSNP:rs11556314    
Untranslated 28665688 C T forward           DBSNP:rs9183    
Untranslated 28666212 A G forward           DBSNP:rs11783222    
Untranslated 28666356 G T forward           DBSNP:rs1801814    
Untranslated 28666452 G T forward           DBSNP:rs17059355    
Untranslated 28666764 C G forward           DBSNP:rs10100385    
Untranslated 28666872 A G forward           DBSNP:rs1044135    

Last updated 28-Aug-2006

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