All transcript variants in gene EMD

Information The variants shown are described using the NM_000117.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-9G>A r.(=) p.(=) g.153607836G>A Copied from the Exome Variant Server EMD_000017 1/9851 1/6271 0/3580
?/? c.30C>G r.(=) p.(=) g.153607874C>G Copied from the Exome Variant Server EMD_000018 1/10142 0/6465 1/3677
?/? c.57C>T r.(=) p.(=) g.153607901C>T Copied from the Exome Variant Server EMD_000019 1/10111 0/6442 1/3669
?/? c.82+4C>T r.spl? p.? g.153607930C>T Copied from the Exome Variant Server EMD_000020 1/9929 0/6317 1/3612
?/? c.83-45G>A r.(=) p.(=) g.153608005G>A Copied from the Exome Variant Server EMD_000021 1/10265 0/6551 1/3714
?/? c.83-13C>G r.(=) p.(=) g.153608037C>G Copied from the Exome Variant Server EMD_000022 23/10092 0/6463 23/3629
?/? c.144C>T r.(=) p.(=) g.153608111C>T Copied from the Exome Variant Server EMD_000023 34/10027 0/6394 34/3633
?/? c.187+48G>T r.(=) p.(=) g.153608202G>T Copied from the Exome Variant Server EMD_000024 1/10301 0/6564 1/3737
?/? c.188-52G>A r.(=) p.(=) g.153608250G>A Copied from the Exome Variant Server EMD_000025 135/8125 0/5498 135/2627
?/? c.188-18C>G r.(=) p.(=) g.153608284C>G Copied from the Exome Variant Server EMD_000026 1/10563 0/6728 1/3835
?/? c.188-12C>T r.(=) p.(=) g.153608290C>T Copied from the Exome Variant Server EMD_000027 2/10563 1/6728 1/3835
?/? c.237A>C r.(?) p.(Lys79Asn) g.153608351A>C Copied from the Exome Variant Server EMD_000028 1/10563 0/6728 1/3835
?/? c.241G>A r.(?) p.(Asp81Asn) g.153608355G>A Copied from the Exome Variant Server EMD_000029 2/10563 2/6728 0/3835
?/? c.243C>T r.(=) p.(=) g.153608357C>T Copied from the Exome Variant Server EMD_000030 1/10563 1/6728 0/3835
?/? c.266-13C>T r.(=) p.(=) g.153608581C>T Copied from the Exome Variant Server EMD_000031 1/10556 1/6725 0/3831
?/? c.272A>G r.(?) p.(Asn91Ser) g.153608600A>G Copied from the Exome Variant Server EMD_000032 1/10560 1/6725 0/3835
?/? c.396C>T r.(=) p.(=) g.153608724C>T Copied from the Exome Variant Server EMD_000033 12/10561 11/6726 1/3835
?/? c.399+10C>T r.(=) p.(=) g.153608737C>T Copied from the Exome Variant Server EMD_000034 1/10555 1/6721 0/3834
?/? c.399+18C>T r.(=) p.(=) g.153608745C>T Copied from the Exome Variant Server EMD_000035 1/10553 0/6720 1/3833
?/? c.399+49G>A r.(=) p.(=) g.153608776G>A Copied from the Exome Variant Server EMD_000036 14/10492 0/6670 14/3822
?/? c.428C>T r.(?) p.(Ser143Phe) g.153609141C>T Copied from the Exome Variant Server EMD_000037 1/10563 1/6728 0/3835
?/? c.432A>G r.(=) p.(=) g.153609145A>G Copied from the Exome Variant Server EMD_000001 3/10563 0/6728 3/3835
?/? c.449+5G>A r.spl? p.? g.153609167G>A Copied from the Exome Variant Server EMD_000002 1/10563 0/6728 1/3835
?/? c.450-13T>C r.(=) p.(=) g.153609229T>C Copied from the Exome Variant Server EMD_000003 1/10563 0/6728 1/3835
?/? c.465C>T r.(=) p.(=) g.153609257C>T Copied from the Exome Variant Server EMD_000004 54/10563 0/6728 54/3835
?/? c.466G>A r.(?) p.(Gly156Ser) g.153609258G>A Copied from the Exome Variant Server EMD_000005 15/10563 0/6728 15/3835
?/? c.470G>A r.(?) p.(Arg157Gln) g.153609262G>A Copied from the Exome Variant Server EMD_000006 1/10563 1/6728 0/3835
?/? c.495G>A r.(=) p.(=) g.153609287G>A Copied from the Exome Variant Server EMD_000007 10/10563 8/6728 2/3835
?/? c.537G>A r.(=) p.(=) g.153609329G>A Copied from the Exome Variant Server EMD_000008 2/10563 2/6728 0/3835
?/? c.557C>T r.(?) p.(Ser186Phe) g.153609349C>T Copied from the Exome Variant Server EMD_000009 1/10563 1/6728 0/3835
?/? c.585A>G r.(=) p.(=) g.153609377A>G Copied from the Exome Variant Server EMD_000010 2/10563 1/6728 1/3835
?/? c.598T>C r.(?) p.(Trp200Arg) g.153609390T>C Copied from the Exome Variant Server EMD_000011 2/10563 2/6728 0/3835
?/? c.608G>A r.(?) p.(Arg203His) g.153609400G>A Copied from the Exome Variant Server EMD_000012 2/10563 1/6728 1/3835
?/? c.636T>C r.(=) p.(=) g.153609428T>C Copied from the Exome Variant Server EMD_000013 1/10563 1/6728 0/3835
?/? c.646G>A r.(?) p.(Gly216Arg) g.153609438G>A Copied from the Exome Variant Server EMD_000014 5/10563 0/6728 5/3835
?/? c.677G>C r.(?) p.(Trp226Ser) g.153609469G>C Copied from the Exome Variant Server EMD_000015 1/10563 0/6728 1/3835
?/? c.*11G>A r.(=) p.(=) g.153609568G>A Copied from the Exome Variant Server EMD_000016 1/10519 1/6698 0/3821
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