Full data view for gene R3HDM4

Information The variants shown are described using the NM_138774.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.71+36G>C r.(=) p.(=) Unknown g.913051C>G - R3HDM4_000042 rs1623302 0.254 94 370 822 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.71+39C>G r.(=) p.(=) Unknown g.913048G>C - R3HDM4_000041 rs1683587 0.38 124 326 800 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.71+42_71+43insG r.(=) p.(=) Unknown g.913044_913045insC - R3HDM4_000040 rs199619192 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.71+45G>T r.(=) p.(=) Unknown g.913042C>A - R3HDM4_000039 - 0.005208 2 384 805 0 1 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.226+21G>A r.(=) p.(=) Unknown g.901955C>T - R3HDM4_000038 rs4343405 0.26 134 516 12833 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.226+27T>C r.(=) p.(=) Unknown g.901949A>G - R3HDM4_000037 rs917018835 0.001938 1 516 9207 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.226+103G>A r.(=) p.(=) Unknown g.901873C>T - R3HDM4_000036 rs114577129 0.001938 1 516 7850 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.226+107C>A r.(=) p.(=) Unknown g.901869G>T - R3HDM4_000035 rs566268920 0.003876 2 516 7715 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.226+111G>T r.(=) p.(=) Unknown g.901865C>A - R3HDM4_000034 rs147884980 0.007752 4 516 7558 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.226+120G>A r.(=) p.(=) Unknown g.901856C>T - R3HDM4_000033 rs150267626 0.003876 2 516 6926 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.226+141G>C r.(=) p.(=) Unknown g.901835C>G - R3HDM4_000032 rs1038572826 0.001938 1 516 5316 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.226+143G>A r.(=) p.(=) Unknown g.901833C>T - R3HDM4_000031 rs1005798649 0.001938 1 516 5159 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.227-177C>T r.(=) p.(=) Unknown g.901723G>A - R3HDM4_000030 rs73918216 0.001938 1 516 2674 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.227-107C>T r.(=) p.(=) Unknown g.901653G>A - R3HDM4_000029 rs73918215 0.001938 1 516 4640 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.266T>C r.(?) p.(Leu89Pro) Unknown g.901507A>G - R3HDM4_000028 rs77971861 0.014 7 516 3461 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.322G>C r.(?) p.(Glu108Gln) Unknown g.901451C>G - R3HDM4_000027 rs149198138 0.001938 1 516 2945 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.351+20del r.(=) p.(=) Unknown g.901402del - R3HDM4_000026 rs564666600 0.00969 5 516 4382 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.352-4C>T r.spl? p.? Unknown g.900956G>A - R3HDM4_000025 rs200378573 0.00969 5 516 4382 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.353T>C r.(?) p.(Val118Ala) Unknown g.900951A>G - R3HDM4_000024 rs78580402 0.012 6 516 4291 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.475+40T>C r.(=) p.(=) Unknown g.900789A>G - R3HDM4_000023 rs2930886 0.104 19 182 198 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.476-40G>C r.(=) p.(=) Unknown g.900186C>G - R3HDM4_000022 rs146459823 0.00969 5 516 2648 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.561G>A r.(?) p.(Met187Ile) Unknown g.900061C>T - R3HDM4_000021 rs7253155 0.003876 2 516 5454 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.561+17C>T r.(=) p.(=) Unknown g.900044G>A - R3HDM4_000020 rs73507505 0.00969 5 516 5243 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.561+83C>T r.(=) p.(=) Unknown g.899978G>A - R3HDM4_000019 rs2306718 0.264 136 516 3873 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.561+131C>G r.(=) p.(=) Unknown g.899930G>C - R3HDM4_000018 rs549508822 0.001938 1 516 2785 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.561+162G>A r.(=) p.(=) Unknown g.899899C>T - R3HDM4_000017 rs759968709 0.001946 1 514 2360 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.562-17C>T r.(=) p.(=) Unknown g.899703G>A - R3HDM4_000016 rs139077199 0.003876 2 516 4943 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.587G>A r.(?) p.(Arg196Gln) Unknown g.899661C>T - R3HDM4_000015 rs375284516 0.001938 1 516 7946 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.647+5G>C r.spl? p.? Unknown g.899596C>G - R3HDM4_000014 rs144463479 0.029 15 516 10086 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.647+34G>C r.(=) p.(=) Unknown g.899567C>G - R3HDM4_000013 rs2930885 0.36 186 516 13688 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.648-8C>T r.(=) p.(=) Unknown g.899503G>A - R3HDM4_000012 rs200630470 0.001938 1 516 10928 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.699G>A r.(=) p.(=) Unknown g.899444C>T - R3HDM4_000011 rs2965284 0.165 85 516 13491 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.703+7G>A r.(=) p.(=) Unknown g.899433C>T - R3HDM4_000010 - 0.001938 1 516 9579 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.703+145G>C r.(=) p.(=) Unknown g.899295C>G - R3HDM4_000009 rs150551924 0.00969 5 516 2276 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.704-61A>G r.(=) p.(=) Unknown g.897601T>C - R3HDM4_000008 rs147416397 0.025 13 516 2217 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.704-31C>G r.(=) p.(=) Unknown g.897571G>C - R3HDM4_000007 rs3746149 0.37 191 516 3603 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.725G>A r.(?) p.(Arg242Gln) Unknown g.897519C>T - R3HDM4_000006 rs61745572 0.001938 1 516 5498 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.765G>A r.(=) p.(=) Unknown g.897479C>T - R3HDM4_000005 rs61745642 0.00969 5 516 6010 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*12C>T r.(=) p.(=) Unknown g.897425G>A - R3HDM4_000004 rs375345115 0.001938 1 516 6956 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*13G>A r.(=) p.(=) Unknown g.897424C>T - R3HDM4_000003 rs765752615 0.001938 1 516 6968 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*32C>T r.(=) p.(=) Unknown g.897405G>A - R3HDM4_000002 rs138811757 0.003876 2 516 7319 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*149G>C r.(=) p.(=) Unknown g.897288C>G - R3HDM4_000001 rs186154700 0.001938 1 516 3677 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
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