Unique variants in gene FAM46D

Information The variants shown are described using the NM_152630.4 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.66T>A r.(?) p.(Asp22Glu) g.79698104T>A Copied from the Exome Variant Server FAM46D_000001 1/10562 0/6728 1/3834
1 c.108G>A r.(?) p.(Met36Ile) g.79698146G>A Copied from the Exome Variant Server FAM46D_000002 1/10562 0/6727 1/3835
1 c.133C>T r.(?) p.(His45Tyr) g.79698171C>T Copied from the Exome Variant Server FAM46D_000003 2/10560 0/6726 2/3834
1 c.158G>A r.(?) p.(Gly53Glu) g.79698196G>A Copied from the Exome Variant Server FAM46D_000004 1/10563 0/6728 1/3835
1 c.171T>G r.(?) p.(Ile57Met) g.79698209T>G Copied from the Exome Variant Server FAM46D_000005 1/10562 1/6728 0/3834
1 c.187T>C r.(=) p.(=) g.79698225T>C Copied from the Exome Variant Server FAM46D_000006 1/10563 1/6728 0/3835
1 c.199G>A r.(?) p.(Val67Ile) g.79698237G>A Copied from the Exome Variant Server FAM46D_000007 1/10563 1/6728 0/3835
1 c.227A>G r.(?) p.(Asn76Ser) g.79698265A>G Copied from the Exome Variant Server FAM46D_000008 1/10563 1/6728 0/3835
1 c.239A>G r.(?) p.(Tyr80Cys) g.79698277A>G Copied from the Exome Variant Server FAM46D_000009 1/10563 1/6728 0/3835
1 c.278G>A r.(?) p.(Gly93Asp) g.79698316G>A Copied from the Exome Variant Server FAM46D_000010 2/10559 2/6725 0/3834
1 c.282C>T r.(=) p.(=) g.79698320C>T Copied from the Exome Variant Server FAM46D_000011 1/10559 1/6725 0/3834
1 c.283G>A r.(?) p.(Glu95Lys) g.79698321G>A Copied from the Exome Variant Server FAM46D_000012 3/10559 0/6725 3/3834
1 c.331T>C r.(?) p.(Phe111Leu) g.79698369T>C Copied from the Exome Variant Server FAM46D_000013 2/10561 2/6726 0/3835
1 c.339A>C r.(=) p.(=) g.79698377A>C Copied from the Exome Variant Server FAM46D_000014 4/10561 0/6726 4/3835
1 c.354G>A r.(=) p.(=) g.79698392G>A Copied from the Exome Variant Server FAM46D_000015 1/10558 0/6723 1/3835
1 c.384C>T r.(=) p.(=) g.79698422C>T Copied from the Exome Variant Server FAM46D_000016 1/10560 0/6726 1/3834
1 c.390C>T r.(=) p.(=) g.79698428C>T Copied from the Exome Variant Server FAM46D_000017 12/10559 11/6724 1/3835
1 c.444C>T r.(=) p.(=) g.79698482C>T Copied from the Exome Variant Server FAM46D_000018 1/10561 0/6726 1/3835
1 c.540G>A r.(=) p.(=) g.79698578G>A Copied from the Exome Variant Server FAM46D_000019 28/10558 0/6725 28/3833
1 c.554A>T r.(?) p.(Asp185Val) g.79698592A>T Copied from the Exome Variant Server FAM46D_000020 2/10557 1/6725 1/3832
1 c.555C>G r.(?) p.(Asp185Glu) g.79698593C>G Copied from the Exome Variant Server FAM46D_000021 6274/10557 4774/6725 1500/3832
1 c.577A>G r.(?) p.(Lys193Glu) g.79698615A>G Copied from the Exome Variant Server FAM46D_000022 7/10558 7/6727 0/3831
1 c.596A>G r.(?) p.(Tyr199Cys) g.79698634A>G Copied from the Exome Variant Server FAM46D_000023 74/10561 1/6726 73/3835
1 c.597T>C r.(=) p.(=) g.79698635T>C Copied from the Exome Variant Server FAM46D_000025 37/10561 1/6726 36/3835
1 c.619A>G r.(?) p.(Met207Val) g.79698657A>G Copied from the Exome Variant Server FAM46D_000027 1/10560 1/6725 0/3835
1 c.627A>G r.(=) p.(=) g.79698665A>G Copied from the Exome Variant Server FAM46D_000024 58/10560 0/6725 58/3835
1 c.675C>G r.(=) p.(=) g.79698713C>G Copied from the Exome Variant Server FAM46D_000026 1/10559 1/6724 0/3835
1 c.714G>A r.(=) p.(=) g.79698752G>A Copied from the Exome Variant Server FAM46D_000028 1/10560 0/6726 1/3834
1 c.1019C>T r.(?) p.(Pro340Leu) g.79699057C>T Copied from the Exome Variant Server FAM46D_000029 2/10561 0/6726 2/3835
1 c.1030A>G r.(?) p.(Lys344Glu) g.79699068A>G Copied from the Exome Variant Server FAM46D_000030 2/10561 2/6726 0/3835
1 c.1130A>G r.(?) p.(Tyr377Cys) g.79699168A>G Copied from the Exome Variant Server FAM46D_000031 1/10560 1/6725 0/3835
1 c.1162A>G r.(?) p.(Met388Val) g.79699200A>G Copied from the Exome Variant Server FAM46D_000032 2/10554 0/6723 2/3831
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