Unique variants in gene D2HGDH

Information The variants shown are described using the NM_152783.3 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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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.43C>G r.(?) p.(Arg15Gly) g.242674682C>G - D2HGDH_000001 rs4675887 0.017 9 516 3253 - - Admin
./. 1 - c.76C>T r.(?) p.(Arg26Trp) g.242674715C>T - D2HGDH_000002 rs146696295 0.001938 1 516 5121 - - Admin
./. 1 - c.107G>T r.(?) p.(Cys36Phe) g.242674746G>T - D2HGDH_000003 rs762478969 0.001938 1 516 6900 - - Admin
./. 1 - c.164G>A r.(?) p.(Arg55Gln) g.242674803G>A - D2HGDH_000004 rs77940364 0.285 147 516 12218 - - Admin
./. 1 - c.292+9G>A r.(=) p.(=) g.242674940G>A - D2HGDH_000005 rs148813816 0.016 8 516 9016 - - Admin
./. 1 - c.292+28T>G r.(=) p.(=) g.242674959T>G - D2HGDH_000006 rs62191977 0.68 351 516 8431 - - Admin
./. 1 - c.292+41G>A r.(=) p.(=) g.242674972G>A - D2HGDH_000007 - 0.001938 1 516 6576 1 - Admin
./. 1 - c.292+82G>A r.(=) p.(=) g.242675013G>A - D2HGDH_000008 rs534087124 0.001938 1 516 3398 - - Admin
./. 1 - c.293-133G>A r.(=) p.(=) g.242680315G>A - D2HGDH_000009 rs534363743 0.001938 1 516 3730 - - Admin
./. 1 - c.293-131G>A r.(=) p.(=) g.242680317G>A - D2HGDH_000010 rs577265527 0.001938 1 516 3837 - - Admin
./. 1 - c.293-98G>A r.(=) p.(=) g.242680350G>A - D2HGDH_000011 rs549302662 0.001938 1 516 6051 - - Admin
./. 1 - c.293-84A>T r.(=) p.(=) g.242680364A>T - D2HGDH_000012 rs149829540 0.005814 3 516 7601 - - Admin
./. 1 - c.293-82A>G r.(=) p.(=) g.242680366A>G - D2HGDH_000013 rs4073890 0.541 279 516 7057 - - Admin
./. 1 - c.293-73C>T r.(=) p.(=) g.242680375C>T - D2HGDH_000014 rs79423321 0.089 46 516 8770 - - Admin
./. 1 - c.293-23A>T r.(=) p.(=) g.242680425A>T - D2HGDH_000015 rs145731647 0.014 7 516 10600 - - Admin
./. 1 - c.293-18A>G r.(=) p.(=) g.242680430A>G - D2HGDH_000016 rs4073889 0.535 276 516 12233 - - Admin
./. 1 - c.350+31T>G r.(=) p.(=) g.242680536T>G - D2HGDH_000017 - 0.001938 1 516 4993 1 - Admin
./. 1 - c.351-22G>A r.(=) p.(=) g.242681828G>A - D2HGDH_000018 rs754384138 0.001938 1 516 5970 1 - Admin
./. 1 - c.490+21G>A r.(=) p.(=) g.242682010G>A - D2HGDH_000019 rs200584176 0.001938 1 516 9421 - - Admin
./. 1 - c.490+40T>C r.(=) p.(=) g.242682029T>C - D2HGDH_000020 rs78147778 0.25 129 516 10110 - - Admin
./. 1 - c.490+45C>T r.(=) p.(=) g.242682034C>T - D2HGDH_000021 rs1278412547 0.001938 1 516 8778 1 - Admin
./. 1 - c.685-59C>T r.(=) p.(=) g.242684065C>T - D2HGDH_000022 rs974494010 0.001946 1 514 3420 1 - Admin
./. 1 - c.685-9T>C r.(=) p.(=) g.242684115T>C - D2HGDH_000023 rs4234097 0.533 275 516 6501 - - Admin
./. 1 - c.720C>A r.(=) p.(=) g.242684159C>A - D2HGDH_000024 rs147210645 0.001938 1 516 8478 - - Admin
./. 1 - c.840C>T r.(=) p.(=) g.242684279C>T - D2HGDH_000025 rs138467167 0.003876 2 516 9525 - - Admin
./. 1 - c.853+48G>A r.(=) p.(=) g.242684340G>A - D2HGDH_000026 rs180698643 0.00969 5 516 8145 - - Admin
./. 1 - c.853+66A>G r.(=) p.(=) g.242684358A>G - D2HGDH_000027 rs945580001 0.001938 1 516 7157 1 - Admin
./. 1 - c.853+95_853+96insC r.(=) p.(=) g.242684387_242684388insC - D2HGDH_000029 rs368566208 - - - - - - Admin
./. 1 - c.853+95_853+96insCC r.(=) p.(=) g.242684387_242684388insCC - D2HGDH_000030 rs368566208 - - - - - - Admin
./. 1 - c.853+95_853+96insCCC r.(=) p.(=) g.242684387_242684388insCCC - D2HGDH_000028 rs368566208 - - - - - - Admin
./. 1 - c.853+98C>A r.(=) p.(=) g.242684390C>A - D2HGDH_000031 rs187235818 0.001938 1 516 4958 - - Admin
./. 1 - c.853+102G>C r.(=) p.(=) g.242684394G>C - D2HGDH_000032 rs4675884 0.895 462 516 4635 - - Admin
./. 1 - c.853+104_853+105insCT r.(=) p.(=) g.242684396_242684397insCT - D2HGDH_000033 rs567209414 - - - - - - Admin
./. 1 - c.853+122G>A r.(=) p.(=) g.242684414G>A - D2HGDH_000034 rs146383281 0.003891 2 514 3427 - - Admin
./. 1 - c.854-1363C>T r.(=) p.(=) g.242688203C>T - D2HGDH_000035 rs34519321 0.533 275 516 9414 - - Admin
./. 1 - c.854-1323T>G r.(=) p.(=) g.242688243T>G - D2HGDH_000036 rs190151316 0.001938 1 516 9935 - - Admin
./. 1 - c.854-1274C>T r.(=) p.(=) g.242688292C>T - D2HGDH_000037 rs34767042 0.533 275 516 11463 - - Admin
./. 1 - c.854-1232C>T r.(=) p.(=) g.242688334C>T - D2HGDH_000038 rs143753076 0.00969 5 516 8213 - - Admin
./. 1 - c.854-1200C>T r.(=) p.(=) g.242688366C>T - D2HGDH_000039 rs35386923 0.521 269 516 6364 - - Admin
./. 1 - c.854-1142G>A r.(=) p.(=) g.242688424G>A - D2HGDH_000040 rs143909952 0.00969 5 516 3034 - - Admin
./. 1 - c.854-1132T>C r.(=) p.(=) g.242688434T>C - D2HGDH_000041 rs34077392 0.427 218 510 2915 - - Admin
./. 1 - c.854-1124_854-1123insC r.(=) p.(=) g.242688442_242688443insC - D2HGDH_000042 rs35249772 - - - - - - Admin
./. 1 - c.854-925C>T r.(=) p.(=) g.242688641C>T - D2HGDH_000043 rs113245834 0.001938 1 516 4098 - - Admin
./. 1 - c.854-894C>T r.(=) p.(=) g.242688672C>T - D2HGDH_000044 rs78280775 0.533 275 516 6824 - - Admin
./. 1 - c.854-744C>T r.(=) p.(=) g.242688822C>T - D2HGDH_000045 rs139610220 0.003876 2 516 9373 - - Admin
./. 1 - c.854-696T>C r.(=) p.(=) g.242688870T>C - D2HGDH_000046 rs113047262 0.533 275 516 6963 - - Admin
./. 1 - c.854-640G>A r.(=) p.(=) g.242688926G>A - D2HGDH_000047 rs573841199 0.001938 1 516 2878 - - Admin
./. 1 - c.990G>A r.(=) p.(=) g.242689702G>A - D2HGDH_000048 rs142073267 0.003876 2 516 7847 - - Admin
./. 1 - c.998-133C>T r.(=) p.(=) g.242690528C>T - D2HGDH_000049 rs146473617 0.005814 3 516 4673 - - Admin
./. 1 - c.998-39G>A r.(=) p.(=) g.242690622G>A - D2HGDH_000050 rs367563480 0.001938 1 516 8330 - - Admin
./. 1 - c.1012G>A r.(?) p.(Val338Ile) g.242690675G>A - D2HGDH_000051 rs1106639 0.242 125 516 10361 - - Admin
./. 1 - c.1063G>A r.(?) p.(Gly355Ser) g.242690726G>A - D2HGDH_000052 rs139321130 0.005814 3 516 8197 - - Admin
./. 1 - c.1066C>T r.(?) p.(His356Tyr) g.242690729C>T - D2HGDH_000053 rs144668507 0.005814 3 516 8132 - - Admin
./. 1 - c.1082C>T r.(?) p.(Ala361Val) g.242690745C>T - D2HGDH_000054 rs1105273 0.182 94 516 7395 - - Admin
./. 1 - c.1107T>C r.(=) p.(=) g.242690770T>C - D2HGDH_000055 rs141343442 0.019 10 516 5542 - - Admin
./. 1 - c.1140+8G>A r.(=) p.(=) g.242690811G>A - D2HGDH_000056 rs369135156 0.001946 1 514 3322 - - Admin
./. 1 - c.1140+40G>T r.(=) p.(=) g.242690843G>T - D2HGDH_000057 rs371533312 0.003906 2 512 1770 2 - Admin
./. 1 - c.1141-919T>A r.(=) p.(=) g.242694345T>A - D2HGDH_000058 rs112112796 0.007752 4 516 5075 - - Admin
./. 1 - c.1141-876G>A r.(=) p.(=) g.242694388G>A - D2HGDH_000059 rs112429441 0.06 31 516 8203 - - Admin
./. 1 - c.1141-865C>G r.(=) p.(=) g.242694399C>G - D2HGDH_000060 rs112802682 0.095 49 516 8963 - - Admin
./. 1 - c.1141-813A>G r.(=) p.(=) g.242694451A>G - D2HGDH_000061 rs112839936 0.007752 4 516 9682 - - Admin
./. 1 - c.1141-682C>A r.(=) p.(=) g.242694582C>A - D2HGDH_000062 rs148578716 0.005814 3 516 9206 - - Admin
./. 1 - c.1141-671C>A r.(=) p.(=) g.242694593C>A - D2HGDH_000063 rs917539752 0.001938 1 516 8598 1 - Admin
./. 1 - c.1141-657C>T r.(=) p.(=) g.242694607C>T - D2HGDH_000064 rs142983190 0.001938 1 516 7847 - - Admin
./. 1 - c.1141-632_1141-602del r.(=) p.(=) g.242694632_242694662del - D2HGDH_000065 rs774408573 0.001938 1 516 7847 - - Admin
./. 1 - c.1141-625_1141-595del r.(=) p.(=) g.242694639_242694669del - D2HGDH_000066 rs531541354 0.001938 1 516 7847 - - Admin
./. 1 - c.1141-498G>A r.(=) p.(=) g.242694766G>A - D2HGDH_000067 - 0.001938 1 516 9552 1 - Admin
./. 1 - c.1141-367G>T r.(=) p.(=) g.242694897G>T - D2HGDH_000068 rs143691147 0.005814 3 516 10114 - - Admin
./. 1 - c.1141-349A>G r.(=) p.(=) g.242694915A>G - D2HGDH_000069 rs146828859 0.00969 5 516 10237 - - Admin
./. 1 - c.1141-265A>T r.(=) p.(=) g.242694999A>T - D2HGDH_000070 rs145205270 0.003876 2 516 10140 - - Admin
./. 1 - c.1141-238T>C r.(=) p.(=) g.242695026T>C - D2HGDH_000071 rs532321747 0.007752 4 516 10301 - - Admin
./. 1 - c.1141-165T>C r.(=) p.(=) g.242695099T>C - D2HGDH_000072 rs755911804 0.001938 1 516 10222 1 - Admin
./. 1 - c.1141-151_1141-113del r.(=) p.(=) g.242695113_242695151del - D2HGDH_000073 rs752694939 0.001938 1 516 10222 - - Admin
./. 1 - c.1141-120C>T r.(=) p.(=) g.242695144C>T - D2HGDH_000074 rs145856086 0.003876 2 516 10470 - - Admin
./. 1 - c.1141-113T>A r.(=) p.(=) g.242695151T>A - D2HGDH_000075 rs142763560 0.003876 2 516 10439 - - Admin
./. 1 - c.1141-37A>G r.(=) p.(=) g.242695227A>G - D2HGDH_000076 rs150709879 0.014 7 516 10417 - - Admin
./. 1 - c.1306+68T>C r.(=) p.(=) g.242695497T>C - D2HGDH_000077 rs62192024 0.362 187 516 5182 - - Admin
./. 1 - c.1307-105T>G r.(=) p.(=) g.242707020T>G - D2HGDH_000078 rs187563443 0.001938 1 516 3025 - - Admin
./. 1 - c.1307-56G>A r.(=) p.(=) g.242707069G>A - D2HGDH_000079 - 0.001938 1 516 6076 1 - Admin
./. 1 - c.1307-24A>G r.(=) p.(=) g.242707101A>G - D2HGDH_000080 rs6756901 0.57 294 516 8381 - - Admin
./. 1 - c.1307-19T>C r.(=) p.(=) g.242707106T>C - D2HGDH_000081 rs113076082 0.001938 1 516 8475 - - Admin
./. 1 - c.1307-15C>T r.(=) p.(=) g.242707110C>T - D2HGDH_000082 rs111836685 0.001938 1 516 8599 - - Admin
./. 1 - c.1308A>G r.(=) p.(=) g.242707126A>G - D2HGDH_000083 rs113782371 0.001938 1 516 8984 - - Admin
./. 1 - c.1377C>A r.(=) p.(=) g.242707195C>A - D2HGDH_000084 rs143940595 0.017 9 516 9466 - - Admin
./. 1 - c.1395G>A r.(=) p.(=) g.242707213G>A - D2HGDH_000085 rs111670322 0.019 10 516 9501 - - Admin
./. 1 - c.1476G>A r.(=) p.(=) g.242707294G>A - D2HGDH_000086 rs140096524 0.001938 1 516 8665 - - Admin
./. 1 - c.*26C>T r.(=) p.(=) g.242707410C>T - D2HGDH_000087 rs141211991 0.007752 4 516 2884 - - Admin
./. 1 - c.*40C>T r.(=) p.(=) g.242707424C>T - D2HGDH_000088 rs139456115 0.001938 1 516 2139 - - Admin
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