All transcript variants in gene R3HDML

Information The variants shown are described using the NM_178491.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

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     
./. - c.44T>G r.(?) p.(Phe15Cys) g.42965841T>G - R3HDML_000001 rs11699901 0.112 58 516 9362 - - Admin
./. - c.66C>T r.(=) p.(=) g.42965863C>T - R3HDML_000002 rs3746570 0.192 99 516 9884 - - Admin
./. - c.202G>A r.(?) p.(Asp68Asn) g.42965999G>A - R3HDML_000003 rs36117710 0.001938 1 516 10264 - - Admin
./. - c.228T>C r.(=) p.(=) g.42966025T>C - R3HDML_000004 rs1884612 0.312 161 516 11566 - - Admin
./. - c.259A>G r.(?) p.(Met87Val) g.42966056A>G - R3HDML_000005 rs139713230 0.001938 1 516 9184 - - Admin
./. - c.261+31G>T r.(=) p.(=) g.42966089G>T - R3HDML_000006 rs140736899 0.001938 1 516 5050 - - Admin
./. - c.262-38A>G r.(=) p.(=) g.42969798A>G - R3HDML_000007 rs3761184 0.186 96 516 5321 - - Admin
./. - c.262-25A>G r.(=) p.(=) g.42969811A>G - R3HDML_000008 rs41280256 0.003876 2 516 5392 - - Admin
./. - c.376del r.(?) p.(Gly126Alafs*6) g.42969950del - R3HDML_000009 rs567545745 0.003876 2 516 5392 - - Admin
./. - c.381-55C>T r.(=) p.(=) g.42971962C>T - R3HDML_000010 rs4812825 0.125 63 506 2121 - - Admin
./. - c.381-38C>T r.(=) p.(=) g.42971979C>T - R3HDML_000011 rs79778316 0.014 7 514 2723 - - Admin
./. - c.381-31C>A r.(=) p.(=) g.42971986C>A - R3HDML_000012 - 0.001938 1 516 2977 1 0 Admin
./. - c.513+126G>A r.(=) p.(=) g.42972275G>A - R3HDML_000013 rs4812826 0.382 197 516 4348 - - Admin
./. - c.513+163del r.(=) p.(=) g.42972312del - R3HDML_000014 rs566032581 0.382 197 516 4348 - - Admin
./. - c.546T>C r.(=) p.(=) g.42973935T>C - R3HDML_000015 rs11697359 0.13 67 516 6023 - - Admin
./. - c.583A>G r.(?) p.(Asn195Asp) g.42973972A>G - R3HDML_000016 rs144380945 0.005814 3 516 7375 - - Admin
./. - c.629+110C>T r.(=) p.(=) g.42974128C>T - R3HDML_000017 rs73275329 0.001938 1 516 3748 - - Admin
./. - c.630-42A>G r.(=) p.(=) g.42979258A>G - R3HDML_000018 rs368131810 0.001938 1 516 2017 - - Admin
./. - c.630-10T>C r.(=) p.(=) g.42979290T>C - R3HDML_000019 rs202096350 0.003876 2 516 2944 - - Admin
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