Full data view for gene DCAF8L1

Information The variants shown are described using the NM_001017930.1 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-8C>T r.(=) p.(=) g.27999459G>A Copied from the Exome Variant Server DCAF8L1_000048 1/10560 0/6727 1/3833 - - - - - - -
?/? c.25G>A r.(?) p.(Gly9Ser) g.27999427C>T Copied from the Exome Variant Server DCAF8L1_000046 16/10561 12/6728 4/3833 - - - - - - -
?/? c.28G>A r.(?) p.(Gly10Ser) g.27999424C>T Copied from the Exome Variant Server DCAF8L1_000044 1/10561 1/6728 0/3833 - - - - - - -
?/? c.93G>A r.(=) p.(=) g.27999359C>T Copied from the Exome Variant Server DCAF8L1_000042 2/10561 1/6728 1/3833 - - - - - - -
?/? c.98C>A r.(?) p.(Thr33Lys) g.27999354G>T Copied from the Exome Variant Server DCAF8L1_000040 24/10561 23/6728 1/3833 - - - - - - -
?/? c.116T>C r.(?) p.(Ile39Thr) g.27999336A>G Copied from the Exome Variant Server DCAF8L1_000038 1/10561 1/6728 0/3833 - - - - - - -
?/? c.144C>T r.(=) p.(=) g.27999308G>A Copied from the Exome Variant Server DCAF8L1_000036 5/10561 5/6728 0/3833 - - - - - - -
?/? c.164G>A r.(?) p.(Arg55Lys) g.27999288C>T Copied from the Exome Variant Server DCAF8L1_000034 29/10561 0/6728 29/3833 - - - - - - -
?/? c.178C>T r.(=) p.(=) g.27999274G>A Copied from the Exome Variant Server DCAF8L1_000032 5/10561 3/6728 2/3833 - - - - - - -
?/? c.241C>T r.(?) p.(Leu81Phe) g.27999211G>A Copied from the Exome Variant Server DCAF8L1_000030 14/10561 0/6728 14/3833 - - - - - - -
?/? c.265T>C r.(?) p.(Phe89Leu) g.27999187A>G Copied from the Exome Variant Server DCAF8L1_000028 1/10561 1/6728 0/3833 - - - - - - -
?/? c.306G>A r.(=) p.(=) g.27999146C>T Copied from the Exome Variant Server DCAF8L1_000061 1068/10561 538/6728 530/3833 - - - - - - -
?/? c.321G>A r.(?) p.(Met107Ile) g.27999131C>T Copied from the Exome Variant Server DCAF8L1_000060 10/10561 10/6728 0/3833 - - - - - - -
?/? c.351T>A r.(=) p.(=) g.27999101A>T Copied from the Exome Variant Server DCAF8L1_000059 207/10561 192/6728 15/3833 - - - - - - -
?/? c.352C>A r.(=) p.(=) g.27999100G>T Copied from the Exome Variant Server DCAF8L1_000058 207/10561 192/6728 15/3833 - - - - - - -
?/? c.369C>T r.(=) p.(=) g.27999083G>A Copied from the Exome Variant Server DCAF8L1_000057 3/10561 2/6728 1/3833 - - - - - - -
?/? c.370G>A r.(?) p.(Gly124Ser) g.27999082C>T Copied from the Exome Variant Server DCAF8L1_000056 1/10561 1/6728 0/3833 - - - - - - -
?/? c.384T>C r.(=) p.(=) g.27999068A>G Copied from the Exome Variant Server DCAF8L1_000055 1/10561 0/6728 1/3833 - - - - - - -
?/? c.385G>C r.(?) p.(Asp129His) g.27999067C>G Copied from the Exome Variant Server DCAF8L1_000054 1/10561 0/6728 1/3833 - - - - - - -
?/? c.387T>A r.(?) p.(Asp129Glu) g.27999065A>T Copied from the Exome Variant Server DCAF8L1_000053 1/10561 0/6728 1/3833 - - - - - - -
?/? c.389A>T r.(?) p.(Gln130Leu) g.27999063T>A Copied from the Exome Variant Server DCAF8L1_000052 1/10561 1/6728 0/3833 - - - - - - -
?/? c.406G>A r.(?) p.(Asp136Asn) g.27999046C>T Copied from the Exome Variant Server DCAF8L1_000051 2/10561 0/6728 2/3833 - - - - - - -
?/? c.414G>A r.(=) p.(=) g.27999038C>T Copied from the Exome Variant Server DCAF8L1_000050 1/10561 0/6728 1/3833 - - - - - - -
?/? c.415T>C r.(=) p.(=) g.27999037A>G Copied from the Exome Variant Server DCAF8L1_000049 1/10561 1/6728 0/3833 - - - - - - -
?/? c.427A>G r.(?) p.(Ile143Val) g.27999025T>C Copied from the Exome Variant Server DCAF8L1_000047 43/10561 1/6728 42/3833 - - - - - - -
?/? c.440C>T r.(?) p.(Thr147Ile) g.27999012G>A Copied from the Exome Variant Server DCAF8L1_000045 1/10560 0/6727 1/3833 - - - - - - -
?/? c.455G>A r.(?) p.(Arg152Gln) g.27998997C>T Copied from the Exome Variant Server DCAF8L1_000043 56/10560 0/6727 56/3833 - - - - - - -
?/? c.468A>G r.(=) p.(=) g.27998984T>C Copied from the Exome Variant Server DCAF8L1_000041 7/10560 0/6727 7/3833 - - - - - - -
?/? c.472C>G r.(?) p.(Leu158Val) g.27998980G>C Copied from the Exome Variant Server DCAF8L1_000039 8/10560 0/6727 8/3833 - - - - - - -
?/? c.476C>T r.(?) p.(Thr159Ile) g.27998976G>A Copied from the Exome Variant Server DCAF8L1_000037 1/10560 1/6727 0/3833 - - - - - - -
?/? c.485G>A r.(?) p.(Arg162His) g.27998967C>T Copied from the Exome Variant Server DCAF8L1_000035 3/10560 2/6728 1/3832 - - - - - - -
?/? c.491G>A r.(?) p.(Arg164Gln) g.27998961C>T Copied from the Exome Variant Server DCAF8L1_000033 1/10560 0/6728 1/3832 - - - - - - -
?/? c.511C>T r.(?) p.(Arg171Cys) g.27998941G>A Copied from the Exome Variant Server DCAF8L1_000031 1/10558 0/6727 1/3831 - - - - - - -
?/? c.521A>G r.(?) p.(Tyr174Cys) g.27998931T>C Copied from the Exome Variant Server DCAF8L1_000029 1/10559 1/6727 0/3832 - - - - - - -
?/? c.559C>T r.(?) p.(Arg187Cys) g.27998893G>A Copied from the Exome Variant Server DCAF8L1_000027 2/10559 2/6726 0/3833 - - - - - - -
?/? c.619C>T r.(?) p.(Arg207Cys) g.27998833G>A Copied from the Exome Variant Server DCAF8L1_000026 1/10560 0/6727 1/3833 - - - - - - -
?/? c.630A>G r.(=) p.(=) g.27998822T>C Copied from the Exome Variant Server DCAF8L1_000025 1/10560 1/6727 0/3833 - - - - - - -
?/? c.642C>T r.(=) p.(=) g.27998810G>A Copied from the Exome Variant Server DCAF8L1_000024 1/10560 1/6727 0/3833 - - - - - - -
?/? c.643G>A r.(?) p.(Gly215Ser) g.27998809C>T Copied from the Exome Variant Server DCAF8L1_000023 10/10560 10/6727 0/3833 - - - - - - -
?/? c.680G>A r.(?) p.(Arg227Gln) g.27998772C>T Copied from the Exome Variant Server DCAF8L1_000022 1/10561 0/6728 1/3833 - - - - - - -
?/? c.686A>G r.(?) p.(Lys229Arg) g.27998766T>C Copied from the Exome Variant Server DCAF8L1_000021 1/10561 1/6728 0/3833 - - - - - - -
?/? c.711T>A r.(=) p.(=) g.27998741A>T Copied from the Exome Variant Server DCAF8L1_000020 1/10561 1/6728 0/3833 - - - - - - -
?/? c.729C>T r.(=) p.(=) g.27998723G>A Copied from the Exome Variant Server DCAF8L1_000019 1/10561 0/6728 1/3833 - - - - - - -
?/? c.770C>T r.(?) p.(Ala257Val) g.27998682G>A Copied from the Exome Variant Server DCAF8L1_000018 8/10561 0/6728 8/3833 - - - - - - -
?/? c.829G>A r.(?) p.(Glu277Lys) g.27998623C>T Copied from the Exome Variant Server DCAF8L1_000017 1/10561 1/6728 0/3833 - - - - - - -
?/? c.842G>A r.(?) p.(Arg281His) g.27998610C>T Copied from the Exome Variant Server DCAF8L1_000016 1/10561 0/6728 1/3833 - - - - - - -
?/? c.850A>C r.(?) p.(Lys284Gln) g.27998602T>G Copied from the Exome Variant Server DCAF8L1_000015 1/10561 1/6728 0/3833 - - - - - - -
?/? c.871G>A r.(?) p.(Glu291Lys) g.27998581C>T Copied from the Exome Variant Server DCAF8L1_000014 1/10561 1/6728 0/3833 - - - - - - -
?/? c.888A>T r.(=) p.(=) g.27998564T>A Copied from the Exome Variant Server DCAF8L1_000013 23/10561 22/6728 1/3833 - - - - - - -
?/? c.927C>T r.(=) p.(=) g.27998525G>A Copied from the Exome Variant Server DCAF8L1_000012 1/10561 0/6728 1/3833 - - - - - - -
?/? c.1156T>A r.(?) p.(Tyr386Asn) g.27998296A>T Copied from the Exome Variant Server DCAF8L1_000011 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1185C>T r.(=) p.(=) g.27998267G>A Copied from the Exome Variant Server DCAF8L1_000010 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1200C>T r.(=) p.(=) g.27998252G>A Copied from the Exome Variant Server DCAF8L1_000009 3/10561 2/6728 1/3833 - - - - - - -
?/? c.1209A>G r.(=) p.(=) g.27998243T>C Copied from the Exome Variant Server DCAF8L1_000008 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1253A>G r.(?) p.(Asn418Ser) g.27998199T>C Copied from the Exome Variant Server DCAF8L1_000007 1/10561 0/6728 1/3833 - - - - - - -
?/? c.1341C>T r.(=) p.(=) g.27998111G>A Copied from the Exome Variant Server DCAF8L1_000006 4/10561 4/6728 0/3833 - - - - - - -
?/? c.1346G>A r.(?) p.(Arg449Gln) g.27998106C>T Copied from the Exome Variant Server DCAF8L1_000005 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1619C>T r.(?) p.(Thr540Met) g.27997833G>A Copied from the Exome Variant Server DCAF8L1_000004 3/10561 0/6728 3/3833 - - - - - - -
?/? c.1625C>T r.(?) p.(Ser542Leu) g.27997827G>A Copied from the Exome Variant Server DCAF8L1_000003 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1772G>C r.(?) p.(Gly591Ala) g.27997680C>G Copied from the Exome Variant Server DCAF8L1_000002 2/10561 2/6728 0/3833 - - - - - - -
?/? c.*15G>A r.(=) p.(=) g.27997634C>T Copied from the Exome Variant Server DCAF8L1_000001 1/10561 1/6728 0/3833 - - - - - - -
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