All variants in the HSPG2 gene

Information The variants shown are described using the NM_005529.5 transcript reference sequence.

974 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     
./. - c.244+40C>T 244 r.(=) p.(=) - intron 40 g.22222375G>A - HSPG2_000177 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.324C>T 324 r.(?) p.(=) - coding-synonymous - g.22217108G>A - HSPG2_000105 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.444G>C 444 r.(?) p.(=) - coding-synonymous - g.22216604C>G - HSPG2_000104 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.474G>T 474 r.(?) p.(=) - coding-synonymous - g.22216574C>A - HSPG2_000103 - - LOVD
./. - c.703+40G>A 703 r.(=) p.(=) - intron 40 g.22214391C>T - HSPG2_000176 - - LOVD
./. - c.704-16C>T 704 r.(=) p.(=) - intron 16 g.22214183G>A - HSPG2_000175 - - LOVD
./. - c.704-16C>T 704 r.(=) p.(=) - intron 16 g.22214183G>A - HSPG2_000175 - - LOVD
./. - c.704-16C>T 704 r.(=) p.(=) - intron 16 g.22214183G>A - HSPG2_000175 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
./. - c.744T>C 744 r.(?) p.(=) - coding-synonymous - g.22214127A>G - HSPG2_000100 - - LOVD
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