Unique variants in gene RAB40A

Information The variants shown are described using the NM_080879.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.-27C>T r.(=) p.(=) g.102755711G>A Copied from the Exome Variant Server RAB40A_000020 1/10529 1/6702 0/3827
1 c.11C>T r.(?) p.(Pro4Leu) g.102755674G>A Copied from the Exome Variant Server RAB40A_000018 1/10563 0/6728 1/3835
1 c.33T>C r.(=) p.(=) g.102755652A>G Copied from the Exome Variant Server RAB40A_000027 4/10563 0/6728 4/3835
1 c.51C>T r.(=) p.(=) g.102755634G>A Copied from the Exome Variant Server RAB40A_000026 1/10563 1/6728 0/3835
1 c.102G>A r.(=) p.(=) g.102755583C>T Copied from the Exome Variant Server RAB40A_000025 3/10563 3/6728 0/3835
1 c.125C>T r.(?) p.(Pro42Leu) g.102755560G>A Copied from the Exome Variant Server RAB40A_000024 87/10563 81/6728 6/3835
1 c.132C>T r.(=) p.(=) g.102755553G>A Copied from the Exome Variant Server RAB40A_000023 8/10563 8/6728 0/3835
1 c.134A>T r.(?) p.(His45Leu) g.102755551T>A Copied from the Exome Variant Server RAB40A_000022 2133/10563 1828/6728 305/3835
1 c.135T>C r.(=) p.(=) g.102755550A>G Copied from the Exome Variant Server RAB40A_000021 5/10563 5/6728 0/3835
1 c.202_203del r.(?) p.(Trp68Glyfs*42) g.102755482_102755483del Copied from the Exome Variant Server RAB40A_000019 2/10201 0/6482 2/3719
1 c.209C>T r.(?) p.(Thr70Met) g.102755476G>A Copied from the Exome Variant Server RAB40A_000017 4/10557 4/6722 0/3835
1 c.241C>T r.(?) p.(Arg81Cys) g.102755444G>A Copied from the Exome Variant Server RAB40A_000016 1/10525 0/6692 1/3833
1 c.256G>A r.(?) p.(Gly86Ser) g.102755429C>T Copied from the Exome Variant Server RAB40A_000015 2/10527 2/6694 0/3833
1 c.379C>T r.(?) p.(Arg127Cys) g.102755306G>A Copied from the Exome Variant Server RAB40A_000014 1/10536 1/6704 0/3832
1 c.432C>T r.(=) p.(=) g.102755253G>A Copied from the Exome Variant Server RAB40A_000013 1/10559 0/6727 1/3832
1 c.440G>A r.(?) p.(Arg147His) g.102755245C>T Copied from the Exome Variant Server RAB40A_000012 1/10562 1/6728 0/3834
1 c.485A>G r.(?) p.(Asn162Ser) g.102755200T>C Copied from the Exome Variant Server RAB40A_000011 5/10563 5/6728 0/3835
1 c.494A>C r.(?) p.(Glu165Ala) g.102755191T>G Copied from the Exome Variant Server RAB40A_000010 1/10559 1/6724 0/3835
1 c.549C>T r.(=) p.(=) g.102755136G>A Copied from the Exome Variant Server RAB40A_000009 1/10554 0/6726 1/3828
1 c.592C>T r.(?) p.(Arg198Cys) g.102755093G>A Copied from the Exome Variant Server RAB40A_000008 1/10558 1/6723 0/3835
1 c.658A>G r.(?) p.(Ser220Gly) g.102755027T>C Copied from the Exome Variant Server RAB40A_000007 1/10563 1/6728 0/3835
1 c.671C>T r.(?) p.(Ser224Phe) g.102755014G>A Copied from the Exome Variant Server RAB40A_000006 966/10563 4/6728 962/3835
1 c.672C>T r.(=) p.(=) g.102755013G>A Copied from the Exome Variant Server RAB40A_000005 24/10563 0/6728 24/3835
1 c.674_676del r.(?) p.(Phe225del) g.102755009_102755011del Copied from the Exome Variant Server RAB40A_000004 13/10205 0/6484 13/3721
1 c.685A>G r.(?) p.(Lys229Glu) g.102755000T>C Copied from the Exome Variant Server RAB40A_000003 1/10563 0/6728 1/3835
1 c.749_750insAAG r.(?) p.(Lys250_Ser251insArg) g.102754935_102754936insCTT Copied from the Exome Variant Server RAB40A_000002 14/10193 13/6472 1/3721
1 c.769G>A r.(?) p.(Glu257Lys) g.102754916C>T Copied from the Exome Variant Server RAB40A_000001 28/10563 26/6728 2/3835
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