Full data view for gene PREPL

Information The variants shown are described using the NM_006036.4 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.219+2323G>A - - Unknown g.44357174C>T - PREPL_000014 rs698774 0.6132 146 135 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.616+243G>C - - Unknown g.44343502C>G - PREPL_000013 rs17032159 0.0824 40 8 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.617-389T>C - - Unknown g.44342941A>G - PREPL_000012 rs17032158 0.9250 39 294 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.753-369T>G r.(=) p.(=) Unknown g.44339732A>C - PREPL_000011 rs12472538 0.8956 63 272 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.753-279T>C r.(=) p.(=) Unknown g.44339642A>G - PREPL_000010 rs6740365 0.0824 44 6 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1155+44T>A r.(=) p.(=) Unknown g.44338307A>T - PREPL_000009 rs2289463 0.6324 153 138 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1155+168G>A r.(=) p.(=) Unknown g.44338183C>T - PREPL_000008 rs17032140 0.9235 36 295 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1155+198G>A - - Unknown g.44338153C>T - PREPL_000007 rs4953092 0.6221 156 133 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1155+225T>G - - Unknown g.44338126A>C - PREPL_000006 rs4953091 0.3544 152 44 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1155+973G>A - - Unknown g.44337378C>T - PREPL_000005 rs4953088 0.2941 137 31 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1155+2642C>A r.(=) p.(=) Unknown g.44335709G>T - PREPL_000004 rs7606810 0.9794 6 329 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.1747-120C>A r.(=) p.(=) Unknown g.44323531G>T - PREPL_000003 rs12474294 0.8794 64 266 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.2021-189T>C - - Unknown g.44322089A>G - PREPL_000002 rs2241869 0.3485 150 43 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*214G>A - - Unknown g.44321142C>T - PREPL_000001 rs11124988 0.1868 96 15 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*587G>A r.(=) p.(=) Unknown g.44320769C>T - SLC3A1_000007 rs8886 0.3559 153 44 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*922T>C - - Unknown g.44320434A>G - SLC3A1_000006 rs698761 0.4294 167 62 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*1260G>C - - Unknown g.44320096C>G - SLC3A1_000005 rs17032122 0.9529 20 313 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*1365T>C - - Unknown g.44319991A>G - SLC3A1_000004 rs2289462 0.6485 144 148 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*1755T>C - - Unknown g.44319601A>G - SLC3A1_000003 rs1056865 0.5721 162 113 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
./. - c.*2480G>A - - Unknown g.44318876C>T - SLC3A1_000002 rs8410 0.7353 119 190 DNA arrayCNV - - Variants from 340 reference individuals using Affymetrix 6.0 SNP array. Reference = hg38 340 Admin
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