All transcript variants in gene R3HDM1

Information The variants shown are described using the NM_015361.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. - c.-250+21599C>G - - g.135553232C>G - R3HDM1_000024 rs4954262 0.7397 127 187 Admin
./. - c.-250+21720A>G r.(=) p.(=) g.135553353A>G - R3HDM1_000025 rs4954263 0.8632 87 249 Admin
./. - c.-250+23705C>T - - g.135555338C>T - R3HDM1_000026 rs6430579 0.1265 80 3 Admin
./. - c.-249-22197C>T - - g.135580303C>T - R3HDM1_000027 rs11892928 0.1676 66 24 Admin
./. - c.-40-817A>G - - g.135603989A>G - R3HDM1_000028 rs7608702 0.1441 64 17 Admin
./. - c.171+3846C>T - - g.135608862C>T - R3HDM1_000029 rs6723890 0.8662 81 253 Admin
./. - c.497+1045A>G r.(=) p.(=) g.135623777A>G - R3HDM1_000030 rs12465802 0.2500 110 30 Admin
./. - c.498-816A>G - - g.135630902A>G - R3HDM1_000023 rs10187054 0.4176 157 63 Admin
./. - c.1623+3011A>G - - g.135648538A>G - R3HDM1_000006 rs2289961 0.0118 4 2 Admin
./. - c.1624-2226C>T - - g.135649507C>T - R3HDM1_000007 rs12466487 0.7426 128 188 Admin
./. - c.1624-1859C>T r.(=) p.(=) g.135649874C>T - R3HDM1_000008 rs1446586 0.6985 150 162 Admin
./. - c.1624-483C>T r.(=) p.(=) g.135651250C>T - R3HDM1_000009 rs16831899 0.2529 128 22 Admin
./. - c.1923+2717A>G r.(=) p.(=) g.135654749A>G - R3HDM1_000010 rs7601352 0.0441 14 8 Admin
./. - c.1924-1373A>G - - g.135659897A>G - R3HDM1_000011 rs13409578 0.0324 20 1 Admin
./. - c.1924-100C>T r.(=) p.(=) g.135661170C>T - R3HDM1_000012 rs3769018 0.8265 96 232 Admin
./. - c.2047+997C>T r.(=) p.(=) g.135662390C>T - R3HDM1_000013 rs1446584 0.4176 167 58 Admin
./. - c.2047+1726C>T - - g.135663119C>T - R3HDM1_000014 rs4954280 0.4162 164 59 Admin
./. - c.2047+1944A>C r.(=) p.(=) g.135663337A>C - R3HDM1_000015 rs1374330 0.2603 130 23 Admin
./. - c.2203-1427C>T - - g.135678746C>T - R3HDM1_000016 rs6753232 0.5647 124 130 Admin
./. - c.2355-7777C>T r.(=) p.(=) g.135701656C>T - R3HDM1_000017 rs7592050 0.7059 157 161 Admin
./. - c.2355-7439G>T - - g.135701994G>T - R3HDM1_000018 rs7578807 0.9559 24 312 Admin
./. - c.2355-4343A>G - - g.135705090A>G - R3HDM1_000019 rs2117511 0.2941 144 28 Admin
./. - c.2355-4173A>C - - g.135705260A>C - R3HDM1_000020 rs2028239 0.0471 22 5 Admin
./. - c.2355-2186C>T - - g.135707247C>T - R3HDM1_000021 rs6745540 0.0529 26 5 Admin
./. - c.2355-2039C>T - - g.135707394C>T - R3HDM1_000022 rs10197046 0.8574 61 260 Admin
./. - c.2355-1148A>G - - g.135708285A>G - R3HDM1_000001 rs2117510 0.9721 19 320 Admin
./. - c.2458+57G>T - - g.135709593G>T - R3HDM1_000002 rs2304367 0.9603 25 313 Admin
./. - c.2459-71G>T - - g.135709988G>T - R3HDM1_000003 rs2304368 0.0691 35 6 Admin
./. - c.2859+163A>C - - g.135722169A>C - R3HDM1_000004 rs16831978 0.9588 26 312 Admin
./. - c.*317C>T - - g.135724609C>T - R3HDM1_000005 rs3739027 0.9471 24 309 Admin
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