Unique variants in gene DKC1

Information The variants shown are described using the NM_001363.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-43C>T r.(=) p.(=) g.153991198C>T Copied from the Exome Variant Server DKC1_000046 2/10309 2/6570 0/3739
1 c.-39G>C r.(=) p.(=) g.153991202G>C Copied from the Exome Variant Server DKC1_000047 1/10329 1/6579 0/3750
1 c.-20C>T r.(=) p.(=) g.153991221C>T Copied from the Exome Variant Server DKC1_000048 2/10347 0/6587 2/3760
1 c.-15G>A r.(=) p.(=) g.153991226G>A Copied from the Exome Variant Server DKC1_000074 1/10349 1/6586 0/3763
1 c.16+64del r.(=) p.(=) g.153991320del Copied from the Exome Variant Server DKC1_000075 5/9266 5/5869 0/3397
1 c.41A>G r.(?) p.(Lys14Arg) g.153993198A>G Copied from the Exome Variant Server DKC1_000076 1/10563 0/6728 1/3835
1 c.84C>T r.(=) p.(=) g.153993241C>T Copied from the Exome Variant Server DKC1_000077 3/10563 3/6728 0/3835
1 c.84+38A>C r.(=) p.(=) g.153993279A>C Copied from the Exome Variant Server DKC1_000078 1/10563 1/6728 0/3835
1 c.97G>A r.(?) p.(Ala33Thr) g.153993731G>A Copied from the Exome Variant Server DKC1_000049 1/10563 1/6728 0/3835
1 c.171+11del r.(=) p.(=) g.153993816del Copied from the Exome Variant Server DKC1_000050 3/10205 3/6484 0/3721
1 c.171+43C>T r.(=) p.(=) g.153993848C>T Copied from the Exome Variant Server DKC1_000051 1/10563 1/6728 0/3835
1 c.171+44G>A r.(=) p.(=) g.153993849G>A Copied from the Exome Variant Server DKC1_000052 1/10563 0/6728 1/3835
1 c.172-41C>T r.(=) p.(=) g.153994141C>T Copied from the Exome Variant Server DKC1_000053 1/10563 0/6728 1/3835
1 c.172-12G>A r.(=) p.(=) g.153994170G>A Copied from the Exome Variant Server DKC1_000054 5/10563 0/6728 5/3835
1 c.263+17G>A r.(=) p.(=) g.153994290G>A Copied from the Exome Variant Server DKC1_000055 1/10563 1/6728 0/3835
1 c.263+41T>A r.(=) p.(=) g.153994314T>A Copied from the Exome Variant Server DKC1_000056 1/10563 0/6728 1/3835
1 c.264-34G>T r.(=) p.(=) g.153994457G>T Copied from the Exome Variant Server DKC1_000057 1/10563 0/6728 1/3835
1 c.264-31G>A r.(=) p.(=) g.153994460G>A Copied from the Exome Variant Server DKC1_000058 43/10563 0/6728 43/3835
1 c.369G>T N/A N/A g.153994596G>T Copied from the Exome Variant Server DKC1_000059 10477/10563 6728/6728 3749/3835
1 c.399C>T r.(=) p.(=) g.153994626C>T Copied from the Exome Variant Server DKC1_000060 1/10563 0/6728 1/3835
1 c.415G>A r.(?) p.(Ala139Thr) g.153994642G>A Copied from the Exome Variant Server DKC1_000061 1/10563 1/6728 0/3835
1 c.448+33A>C r.(=) p.(=) g.153994708A>C Copied from the Exome Variant Server DKC1_000062 1/10563 1/6728 0/3835
1 c.448+41G>A r.(=) p.(=) g.153994716G>A Copied from the Exome Variant Server DKC1_000063 25/10561 0/6726 25/3835
1 c.449-64A>G r.(=) p.(=) g.153995208A>G Copied from the Exome Variant Server DKC1_000064 3/3600 3/2391 0/1209
1 c.449-55A>T r.(=) p.(=) g.153995217A>T Copied from the Exome Variant Server DKC1_000065 85/3600 0/2391 85/1209
1 c.513+44T>G r.(=) p.(=) g.153995380T>G Copied from the Exome Variant Server DKC1_000066 15/10563 15/6728 0/3835
1 c.514-50C>T r.(=) p.(=) g.153995481C>T Copied from the Exome Variant Server DKC1_000067 1/10563 1/6728 0/3835
1 c.514-33G>C r.(=) p.(=) g.153995498G>C Copied from the Exome Variant Server DKC1_000068 1/10563 0/6728 1/3835
1 c.621C>T r.(=) p.(=) g.153995638C>T Copied from the Exome Variant Server DKC1_000069 1/10563 0/6728 1/3835
1 c.622G>A r.(?) p.(Asp208Asn) g.153995639G>A Copied from the Exome Variant Server DKC1_000070 1/10563 1/6728 0/3835
1 c.641-31G>T r.(=) p.(=) g.153996546G>T Copied from the Exome Variant Server DKC1_000071 1/10563 0/6728 1/3835
1 c.717T>C r.(=) p.(=) g.153996653T>C Copied from the Exome Variant Server DKC1_000072 2/10563 0/6728 2/3835
1 c.771+13G>A r.(=) p.(=) g.153996720G>A Copied from the Exome Variant Server DKC1_000073 9/10563 9/6728 0/3835
1 c.771+81C>T r.(=) p.(=) g.153996788C>T Copied from the Exome Variant Server DKC1_000001 4/4525 1/3107 3/1418
1 c.771+88A>G r.(=) p.(=) g.153996795A>G Copied from the Exome Variant Server DKC1_000002 1/4525 1/3107 0/1418
1 c.771+165del r.(=) p.(=) g.153996872del Copied from the Exome Variant Server DKC1_000003 3/10033 2/6363 1/3670
1 c.771+192G>C r.(=) p.(=) g.153996899G>C Copied from the Exome Variant Server DKC1_000004 9/4525 0/3107 9/1418
1 c.771+255C>T r.(=) p.(=) g.153996962C>T Copied from the Exome Variant Server DKC1_000005 1/4525 1/3107 0/1418
1 c.772-35A>T r.(=) p.(=) g.153997407A>T Copied from the Exome Variant Server DKC1_000006 3/10563 0/6728 3/3835
1 c.772-31T>A r.(=) p.(=) g.153997411T>A Copied from the Exome Variant Server DKC1_000007 2/10563 2/6728 0/3835
1 c.776A>C r.(?) p.(His259Pro) g.153997446A>C Copied from the Exome Variant Server DKC1_000008 50/10563 0/6728 50/3835
1 c.838A>C r.(?) p.(Ser280Arg) g.153997508A>C Copied from the Exome Variant Server DKC1_000009 2/10563 1/6728 1/3835
1 c.915+8C>T r.(=) p.(=) g.153997593C>T Copied from the Exome Variant Server DKC1_000010 3/10563 3/6728 0/3835
1 c.975C>T r.(=) p.(=) g.153999093C>T Copied from the Exome Variant Server DKC1_000011 1/10563 1/6728 0/3835
1 c.976G>A r.(?) p.(Gly326Ser) g.153999094G>A Copied from the Exome Variant Server DKC1_000012 1/10563 1/6728 0/3835
1 c.978C>T r.(=) p.(=) g.153999096C>T Copied from the Exome Variant Server DKC1_000013 2/10563 0/6728 2/3835
1 c.1036+10G>C r.(=) p.(=) g.153999164G>C Copied from the Exome Variant Server DKC1_000014 1/10563 0/6728 1/3835
1 c.1036+19T>G r.(=) p.(=) g.153999173T>G Copied from the Exome Variant Server DKC1_000015 1/10563 0/6728 1/3835
1 c.1036+29C>G r.(=) p.(=) g.153999183C>G Copied from the Exome Variant Server DKC1_000016 91/10563 0/6728 91/3835
1 c.1036+46C>T r.(=) p.(=) g.153999200C>T Copied from the Exome Variant Server DKC1_000017 6/10563 0/6728 6/3835
1 c.1036+50C>G r.(=) p.(=) g.153999204C>G Copied from the Exome Variant Server DKC1_000018 1/10563 0/6728 1/3835
1 c.1059G>A r.(=) p.(=) g.154001428G>A Copied from the Exome Variant Server DKC1_000019 2/10563 2/6728 0/3835
1 c.1155+34_1155+35del r.(=) p.(=) g.154001558_154001559del Copied from the Exome Variant Server DKC1_000020 158/10196 103/6478 55/3718
1 c.1155+36_1155+37del r.(=) p.(=) g.154001560_154001561del Copied from the Exome Variant Server DKC1_000021 813/7765 484/5032 329/2733
1 c.1155+37del r.(=) p.(=) g.154001561del Copied from the Exome Variant Server DKC1_000022 1183/7765 824/5032 359/2733
1 c.1156-15del r.(=) p.(=) g.154002862del Copied from the Exome Variant Server DKC1_000023 32/10205 17/6484 15/3721
1 c.1167G>A r.(=) p.(=) g.154002888G>A Copied from the Exome Variant Server DKC1_000024 1/10563 1/6728 0/3835
1 c.1248T>C r.(=) p.(=) g.154002969T>C Copied from the Exome Variant Server DKC1_000025 1/10563 1/6728 0/3835
1 c.1259+24_1259+25insA r.(=) p.(=) g.154003004_154003005insA Copied from the Exome Variant Server DKC1_000026 2/10205 0/6484 2/3721
1 c.1259+39C>T r.(=) p.(=) g.154003019C>T Copied from the Exome Variant Server DKC1_000027 88/10563 0/6728 88/3835
1 c.1259+40G>A r.(=) p.(=) g.154003020G>A Copied from the Exome Variant Server DKC1_000028 1/10563 1/6728 0/3835
1 c.1260-168C>T N/A N/A g.154003302C>T Copied from the Exome Variant Server DKC1_000029 1/4525 1/3107 0/1418
1 c.1260-139C>T N/A N/A g.154003331C>T Copied from the Exome Variant Server DKC1_000030 1/4525 1/3107 0/1418
1 c.1260-59A>G r.(=) p.(=) g.154003411A>G Copied from the Exome Variant Server DKC1_000031 1/8125 0/5498 1/2627
1 c.1260-49C>T r.(=) p.(=) g.154003421C>T Copied from the Exome Variant Server DKC1_000032 3/10563 1/6728 2/3835
1 c.1260-40G>A r.(=) p.(=) g.154003430G>A Copied from the Exome Variant Server DKC1_000033 7/10563 1/6728 6/3835
1 c.1293G>A r.(=) p.(=) g.154003503G>A Copied from the Exome Variant Server DKC1_000034 7/10563 0/6728 7/3835
1 c.1317C>T r.(=) p.(=) g.154003527C>T Copied from the Exome Variant Server DKC1_000035 4/10563 0/6728 4/3835
1 c.1332T>A r.(=) p.(=) g.154003542T>A Copied from the Exome Variant Server DKC1_000036 1/10563 1/6728 0/3835
1 c.1339-36C>T r.(=) p.(=) g.154004426C>T Copied from the Exome Variant Server DKC1_000037 1/10563 1/6728 0/3835
1 c.1353T>A r.(?) p.(Ser451Arg) g.154004476T>A Copied from the Exome Variant Server DKC1_000038 1/10563 1/6728 0/3835
1 c.1368C>T r.(=) p.(=) g.154004491C>T Copied from the Exome Variant Server DKC1_000039 1/10563 0/6728 1/3835
1 c.1456G>A r.(?) p.(Gly486Arg) g.154004579G>A Copied from the Exome Variant Server DKC1_000040 17/10559 0/6725 17/3834
1 c.1461C>T r.(=) p.(=) g.154004584C>T Copied from the Exome Variant Server DKC1_000041 937/10558 458/6725 479/3833
1 c.1479C>T r.(=) p.(=) g.154005076C>T Copied from the Exome Variant Server DKC1_000042 1/10563 0/6728 1/3835
1 c.1538C>A r.(?) p.(Ser513Tyr) g.154005135C>A Copied from the Exome Variant Server DKC1_000043 1/10559 1/6724 0/3835
1 c.*6G>A r.(=) p.(=) g.154005148G>A Copied from the Exome Variant Server DKC1_000044 747/10557 648/6723 99/3834
1 c.*40T>C r.(=) p.(=) g.154005182T>C Copied from the Exome Variant Server DKC1_000045 86/10477 0/6665 86/3812
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