All transcript variants in gene PGRMC1

Information The variants shown are described using the NM_006667.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-42C>T r.(=) p.(=) g.118370285C>T Copied from the Exome Variant Server PGRMC1_000001 2/10526 2/6706 0/3820
?/? c.-31C>T r.(=) p.(=) g.118370296C>T Copied from the Exome Variant Server PGRMC1_000002 8/10545 0/6717 8/3828
?/? c.18G>A r.(=) p.(=) g.118370344G>A Copied from the Exome Variant Server PGRMC1_000003 3/10536 1/6712 2/3824
?/? c.111C>G r.(=) p.(=) g.118370437C>G Copied from the Exome Variant Server PGRMC1_000004 2/10557 2/6724 0/3833
?/? c.144G>A r.(=) p.(=) g.118370470G>A Copied from the Exome Variant Server PGRMC1_000005 34/10477 0/6674 34/3803
?/? c.153G>T r.(=) p.(=) g.118370479G>T Copied from the Exome Variant Server PGRMC1_000006 1/10342 1/6578 0/3764
?/? c.163G>A r.(?) p.(Gly55Ser) g.118370489G>A Copied from the Exome Variant Server PGRMC1_000007 2/10344 2/6581 0/3763
?/? c.329-43T>A r.(=) p.(=) g.118374229T>A Copied from the Exome Variant Server PGRMC1_000008 306/10563 280/6728 26/3835
?/? c.329-23G>A r.(=) p.(=) g.118374249G>A Copied from the Exome Variant Server PGRMC1_000009 1/10563 1/6728 0/3835
?/? c.336G>A r.(=) p.(=) g.118374279G>A Copied from the Exome Variant Server PGRMC1_000010 2/10563 0/6728 2/3835
?/? c.424C>T r.(?) p.(Leu142Phe) g.118374367C>T Copied from the Exome Variant Server PGRMC1_000011 1/10563 0/6728 1/3835
?/? c.457C>G r.(?) p.(Leu153Val) g.118374400C>G Copied from the Exome Variant Server PGRMC1_000012 1/10563 0/6728 1/3835
?/? c.484+22T>C r.(=) p.(=) g.118374449T>C Copied from the Exome Variant Server PGRMC1_000013 2/10563 2/6728 0/3835
?/? c.494A>G r.(?) p.(His165Arg) g.118377123A>G Copied from the Exome Variant Server PGRMC1_000014 17/10563 14/6728 3/3835
?/? c.520G>C r.(?) p.(Gly174Arg) g.118377149G>C Copied from the Exome Variant Server PGRMC1_000015 1/10563 1/6728 0/3835
?/? c.534T>C r.(=) p.(=) g.118377163T>C Copied from the Exome Variant Server PGRMC1_000016 1/10563 0/6728 1/3835
?/? c.536T>C r.(?) p.(Val179Ala) g.118377165T>C Copied from the Exome Variant Server PGRMC1_000017 1/10563 1/6728 0/3835
?/? c.565G>A r.(?) p.(Glu189Lys) g.118377194G>A Copied from the Exome Variant Server PGRMC1_000018 1/10563 1/6728 0/3835
?/? c.568A>G r.(?) p.(Ser190Gly) g.118377197A>G Copied from the Exome Variant Server PGRMC1_000019 1/10563 1/6728 0/3835
?/? c.*29G>A r.(=) p.(=) g.118377246G>A Copied from the Exome Variant Server PGRMC1_000020 1/10563 0/6728 1/3835
?/? c.*30T>C r.(=) p.(=) g.118377247T>C Copied from the Exome Variant Server PGRMC1_000021 1/10563 0/6728 1/3835
?/? c.*42T>C r.(=) p.(=) g.118377259T>C Copied from the Exome Variant Server PGRMC1_000022 4/10563 4/6728 0/3835
?/? c.*48G>A r.(=) p.(=) g.118377265G>A Copied from the Exome Variant Server PGRMC1_000023 1/10562 1/6728 0/3834
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