Unique variants in gene L2HGDH

Information The variants shown are described using the NM_024884.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-29G>T r.(=) p.(=) g.50778897C>A - L2HGDH_000047 rs370435252 0.001938 1 516 5974 - - Admin
./. 1 - c.53T>G r.(?) p.(Leu18Arg) g.50778816A>C - L2HGDH_000046 rs2275591 0.547 282 516 5343 - - Admin
./. 1 - c.99G>T r.(?) p.(Arg33Ser) g.50778770C>A - L2HGDH_000045 rs35710558 0.005837 3 514 3768 - - Admin
./. 1 - c.121A>G r.(?) p.(Ser41Gly) g.50778748T>C - L2HGDH_000044 rs1025258015 0.001946 1 514 2866 1 - Admin
./. 1 - c.137C>T r.(?) p.(Thr46Ile) g.50778732G>A - L2HGDH_000043 rs201806251 0.001938 1 516 2434 - - Admin
./. 1 - c.140+460_140+461insA r.(=) p.(=) g.50778268_50778269insT - L2HGDH_000042 rs72473098 - - - - - - Admin
./. 1 - c.140+607C>T r.(=) p.(=) g.50778122G>A - L2HGDH_000041 rs1358068244 0.001938 1 516 5500 1 - Admin
./. 1 - c.141-133C>T r.(=) p.(=) g.50769868G>A - L2HGDH_000040 rs1962578 0.279 129 462 937 - - Admin
./. 1 - c.141-124G>A r.(=) p.(=) g.50769859C>T - L2HGDH_000039 rs17122363 0.018 9 494 1106 - - Admin
./. 1 - c.159C>T r.(=) p.(=) g.50769717G>A - L2HGDH_000038 rs2297995 0.548 283 516 8211 - - Admin
./. 1 - c.256+30G>C r.(=) p.(=) g.50769590C>G - L2HGDH_000037 rs151006946 0.003876 2 516 5334 - - Admin
./. 1 - c.408+14T>C r.(=) p.(=) g.50768721A>G - L2HGDH_000036 rs77736285 0.001938 1 516 5261 - - Admin
./. 1 - c.408+36A>G r.(=) p.(=) g.50768699T>C - L2HGDH_000035 rs41299197 0.05 26 516 4316 - - Admin
./. 1 - c.408+2276C>T r.(=) p.(=) g.50766459G>A - L2HGDH_000034 rs117130120 0.007752 4 516 4879 - - Admin
./. 1 - c.540+10_540+14del r.(=) p.(=) g.50760819_50760823del - L2HGDH_000033 - 0.001938 1 516 6784 1 - Admin
./. 1 - c.540+766C>A r.(=) p.(=) g.50760067G>T - L2HGDH_000032 rs61160754 0.001961 1 510 1353 - - Admin
./. 1 - c.540+775A>T r.(=) p.(=) g.50760058T>A - L2HGDH_000031 rs114911148 0.001946 1 514 1525 - - Admin
./. 1 - c.540+803G>A r.(=) p.(=) g.50760030C>T - L2HGDH_000030 rs12894758 0.2 103 514 2544 - - Admin
./. 1 - c.540+804G>T r.(=) p.(=) g.50760029C>A - L2HGDH_000029 rs116103825 0.009728 5 514 2595 - - Admin
./. 1 - c.540+827A>G r.(=) p.(=) g.50760006T>C - L2HGDH_000028 rs61078035 0.005814 3 516 3621 - - Admin
./. 1 - c.540+906A>G r.(=) p.(=) g.50759927T>C - L2HGDH_000027 rs79898862 0.001938 1 516 6311 - - Admin
./. 1 - c.540+966A>G r.(=) p.(=) g.50759867T>C - L2HGDH_000026 rs114515014 0.021 11 516 4576 - - Admin
./. 1 - c.541-28C>T r.(=) p.(=) g.50750779G>A - L2HGDH_000025 rs10135842 0.122 63 516 3563 - - Admin
./. 1 - c.582C>G r.(?) p.(Asp194Glu) g.50750710G>C - L2HGDH_000024 rs1013818648 0.001938 1 516 6784 1 - Admin
./. 1 - c.703+12T>C r.(=) p.(=) g.50750577A>G - L2HGDH_000023 rs12433038 0.484 250 516 3110 - - Admin
./. 1 - c.703+1318C>T r.(=) p.(=) g.50749271G>A - L2HGDH_000022 rs375414896 0.001938 1 516 7026 - - Admin
./. 1 - c.703+1516G>A r.(=) p.(=) g.50749073C>T - L2HGDH_000021 rs115734974 0.001976 1 506 1558 - - Admin
./. 1 - c.738+15G>A r.(=) p.(=) g.50745223C>T - L2HGDH_000020 rs73275195 0.012 6 516 4014 - - Admin
./. 1 - c.738+114_738+115insAAGTAA r.(=) p.(=) g.50745123_50745124insTTACTT - L2HGDH_000019 rs10658363 - - - - - - Admin
./. 1 - c.738+223A>G r.(=) p.(=) g.50745015T>C - L2HGDH_000018 rs929243173 0.001938 1 516 5198 1 - Admin
./. 1 - c.739-73A>G r.(=) p.(=) g.50736121T>C - L2HGDH_000017 rs530707197 0.001946 1 514 1411 - - Admin
./. 1 - c.816C>T r.(=) p.(=) g.50735971G>A - L2HGDH_000016 rs927773441 0.001938 1 516 6565 1 - Admin
./. 1 - c.840A>G r.(=) p.(=) g.50735947T>C - L2HGDH_000015 rs72683923 0.005814 3 516 6317 - - Admin
./. 1 - c.906+22T>G r.(=) p.(=) g.50735859A>C - L2HGDH_000014 rs201525290 0.003891 2 514 2111 - - Admin
./. 1 - c.906+34_906+35insT r.(=) p.(=) g.50735846_50735847insA - L2HGDH_000013 rs367714984 - - - - - - Admin
./. 1 - c.1064+5C>T r.spl? p.? g.50734466G>A - L2HGDH_000012 rs77236437 0.001938 1 516 3393 - - Admin
./. 1 - c.1130T>C r.(?) p.(Phe377Ser) g.50732142A>G - L2HGDH_000011 rs760624214 0.001938 1 516 4083 - - Admin
./. 1 - c.1196+34C>T r.(=) p.(=) g.50732042G>A - L2HGDH_000010 rs12432673 0.386 199 516 6172 - - Admin
./. 1 - c.1196+42A>G r.(=) p.(=) g.50732034T>C - L2HGDH_000009 rs528333358 0.001938 1 516 6187 - - Admin
./. 1 - c.1196+138A>C r.(=) p.(=) g.50731938T>G - L2HGDH_000008 rs144094863 0.001938 1 516 6019 - - Admin
./. 1 - c.1196+181G>T r.(=) p.(=) g.50731895C>A - L2HGDH_000007 rs775805712 0.001938 1 516 4598 - - Admin
./. 1 - c.*9322A>G r.(=) p.(=) g.50704454T>C - L2HGDH_000006 rs148005050 0.003891 2 514 2035 - - Admin
./. 1 - c.*9341C>T r.(=) p.(=) g.50704435G>A - L2HGDH_000005 rs80325445 0.035 18 516 2497 - - Admin
./. 1 - c.*9376A>G r.(=) p.(=) g.50704400T>C - L2HGDH_000004 rs74050751 0.007752 4 516 3871 - - Admin
./. 1 - c.*9395_*9397del r.(=) p.(=) g.50704379_50704381del - L2HGDH_000003 rs542783832 0.891 460 516 5303 - - Admin
./. 1 - c.*9445G>A r.(=) p.(=) g.50704331C>T - L2HGDH_000002 rs4901000 0.891 460 516 5303 - - Admin
./. 1 - c.*9481_*9482del r.(=) p.(=) g.50704294_50704295del - L2HGDH_000001 rs531991337 0.001938 1 516 3109 - - Admin
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