Full data view for gene R3HDM2

Information The variants shown are described using the NM_014925.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.103A>G r.(?) p.(Thr35Ala) Unknown g.57704109T>C - R3HDM2_000038 rs11832661 0.031 16 516 5096 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.165+40del r.(=) p.(=) Unknown g.57704007del - R3HDM2_000037 rs550743771 0.477 244 512 2743 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.165+40_165+41del r.(=) p.(=) Unknown g.57704006_57704007del - R3HDM2_000039 rs550743771 0.477 244 512 2743 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.165+112C>T r.(=) p.(=) Unknown g.57703935G>A - R3HDM2_000036 rs7139302 0.477 244 512 2743 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.208-87C>T r.(=) p.(=) Unknown g.57694051G>A - R3HDM2_000035 rs148306446 0.001938 1 516 3459 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.294+117C>G r.(=) p.(=) Unknown g.57693761G>C - R3HDM2_000034 rs114219158 0.001938 1 516 2686 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.421+75C>T r.(=) p.(=) Unknown g.57693060G>A - R3HDM2_000033 rs4760126 0.95 490 516 6734 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.422-40del r.(=) p.(=) Unknown g.57691991del - R3HDM2_000032 rs34608793 0.003876 2 516 7493 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.500+106C>T r.(=) p.(=) Unknown g.57691767G>A - R3HDM2_000031 rs114735196 0.003876 2 516 7493 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.500+219A>G r.(=) p.(=) Unknown g.57691654T>C - R3HDM2_000030 rs895336691 0.001961 1 510 1424 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.501-17_501-16insGTTTT r.(=) p.(=) Unknown g.57691186_57691187insAAAAC - R3HDM2_000029 rs541505372 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.560+88G>A r.(=) p.(=) Unknown g.57691023C>T - R3HDM2_000028 rs181573224 0.003953 2 506 1156 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.842+23C>T r.(=) p.(=) Unknown g.57682769G>A - R3HDM2_000027 rs987177903 0.001938 1 516 6165 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.842+34T>C r.(=) p.(=) Unknown g.57682758A>G - R3HDM2_000026 rs1366174650 0.001938 1 516 6171 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1129+79T>C r.(=) p.(=) Unknown g.57677528A>G - R3HDM2_000025 rs373278169 0.001938 1 516 4846 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1197C>G r.(=) p.(=) Unknown g.57674246G>C - R3HDM2_000024 rs77784795 0.017 9 516 8813 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1302+38G>T r.(=) p.(=) Unknown g.57674103C>A - R3HDM2_000023 rs141650692 0.00969 5 516 2557 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1303-2629del r.(=) p.(=) Unknown g.57666406del - R3HDM2_000022 rs35275303 0.001938 1 516 8581 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1303-2478C>T r.(=) p.(=) Unknown g.57666255G>A - R3HDM2_000021 rs143617893 0.001938 1 516 8263 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1303-2437T>G r.(=) p.(=) Unknown g.57666214A>C - R3HDM2_000020 rs1454301430 0.001938 1 516 8581 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1546-47G>A r.(=) p.(=) Unknown g.57663279C>T - R3HDM2_000019 rs528786633 0.001938 1 516 8165 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2031C>T r.(=) p.(=) Unknown g.57660572G>A - R3HDM2_000018 rs146780443 0.001938 1 516 7843 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2089+137A>G r.(=) p.(=) Unknown g.57660377T>C - R3HDM2_000017 rs77936166 0.017 9 516 5062 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2090-121C>T r.(=) p.(=) Unknown g.57652963G>A - R3HDM2_000016 rs6581131 0.325 165 508 1689 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2159A>G r.(?) p.(Gln720Arg) Unknown g.57652773T>C - R3HDM2_000015 rs745628314 0.001938 1 516 4460 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2260-116C>T r.(=) p.(=) Unknown g.57652036G>A - R3HDM2_000014 rs142102153 0.001946 1 514 2449 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2387G>A r.(?) p.(Arg796Gln) Unknown g.57651793C>T - R3HDM2_000013 rs147863008 0.001938 1 516 6038 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2388G>T r.(=) p.(=) Unknown g.57651792C>A - R3HDM2_000012 rs1383118647 0.001938 1 516 5978 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2496G>A r.(=) p.(=) Unknown g.57650206C>T - R3HDM2_000011 rs76119419 0.001938 1 516 9485 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2505+56G>A r.(=) p.(=) Unknown g.57650141C>T - R3HDM2_000010 rs548349608 0.001938 1 516 9411 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2506-19C>T r.(=) p.(=) Unknown g.57649876G>A - R3HDM2_000009 rs116809825 0.003876 2 516 9685 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2506-18G>A r.(=) p.(=) Unknown g.57649875C>T - R3HDM2_000008 rs115419893 0.001938 1 516 9682 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2523G>A r.(=) p.(=) Unknown g.57649840C>T - R3HDM2_000007 rs4075325 0.368 190 516 10427 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2591-104A>G r.(=) p.(=) Unknown g.57649000T>C - R3HDM2_000006 rs765012335 0.001938 1 516 4209 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2591-58G>C r.(=) p.(=) Unknown g.57648954C>G - R3HDM2_000005 rs35889378 0.001938 1 516 6912 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2715G>T r.(=) p.(=) Unknown g.57648772C>A - R3HDM2_000004 rs73120051 0.00969 5 516 10562 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2724A>G r.(=) p.(=) Unknown g.57648763T>C - R3HDM2_000003 rs760968743 0.003876 2 516 11515 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2730T>G r.(=) p.(=) Unknown g.57648757A>C - R3HDM2_000002 rs774698063 0.001938 1 516 10912 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2843G>A r.(?) p.(Arg948His) Unknown g.57648644C>T - R3HDM2_000001 rs78607331 0.029 15 516 9887 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
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