All transcript variants in gene EFNB1

Information The variants shown are described using the NM_004429.4 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.8G>C r.(?) p.(Arg3Pro) g.68049627G>C Copied from the Exome Variant Server EFNB1_000001 1/10521 1/6708 0/3813
?/? c.133C>T r.(=) p.(=) g.68058464C>T Copied from the Exome Variant Server EFNB1_000002 1/10563 1/6728 0/3835
?/? c.192C>T r.(=) p.(=) g.68058523C>T Copied from the Exome Variant Server EFNB1_000003 2/10562 2/6727 0/3835
?/? c.211C>T r.(?) p.(Arg71Trp) g.68058542C>T Copied from the Exome Variant Server EFNB1_000004 1/10563 1/6728 0/3835
?/? c.245G>A r.(?) p.(Arg82Gln) g.68058576G>A Copied from the Exome Variant Server EFNB1_000005 1/10563 1/6728 0/3835
?/? c.262G>A r.(?) p.(Ala88Thr) g.68058593G>A Copied from the Exome Variant Server EFNB1_000006 1/10563 0/6728 1/3835
?/? c.406+29T>G r.(=) p.(=) g.68058766T>G Copied from the Exome Variant Server EFNB1_000007 1/10551 0/6717 1/3834
?/? c.406+47_406+50del r.(=) p.(=) g.68058784_68058787del Copied from the Exome Variant Server EFNB1_000008 2/10166 0/6456 2/3710
?/? c.416A>T r.(?) p.(Asn139Ile) g.68059516A>T Copied from the Exome Variant Server EFNB1_000009 1/10563 1/6728 0/3835
?/? c.422G>C r.(?) p.(Ser141Thr) g.68059522G>C Copied from the Exome Variant Server EFNB1_000010 3/10563 3/6728 0/3835
?/? c.461G>A r.(?) p.(Arg154His) g.68059561G>A Copied from the Exome Variant Server EFNB1_000011 2/10563 2/6728 0/3835
?/? c.499+32C>G r.(=) p.(=) g.68059631C>G Copied from the Exome Variant Server EFNB1_000012 6/10561 0/6728 6/3833
?/? c.500-47A>G r.(=) p.(=) g.68059756A>G Copied from the Exome Variant Server EFNB1_000013 2/10563 2/6728 0/3835
?/? c.509C>T r.(?) p.(Ala170Val) g.68059812C>T Copied from the Exome Variant Server EFNB1_000014 56/10562 0/6727 56/3835
?/? c.516G>A r.(=) p.(=) g.68059819G>A Copied from the Exome Variant Server EFNB1_000015 1/10562 1/6727 0/3835
?/? c.540G>T r.(?) p.(Arg180Ser) g.68059843G>T Copied from the Exome Variant Server EFNB1_000016 3/10562 3/6727 0/3835
?/? c.565G>A r.(?) p.(Val189Ile) g.68059868G>A Copied from the Exome Variant Server EFNB1_000017 15/10562 0/6727 15/3835
?/? c.566T>C r.(?) p.(Val189Ala) g.68059869T>C Copied from the Exome Variant Server EFNB1_000018 209/10562 0/6727 209/3835
?/? c.597G>T r.(=) p.(=) g.68059900G>T Copied from the Exome Variant Server EFNB1_000019 1/10563 1/6728 0/3835
?/? c.599G>C r.(?) p.(Gly200Ala) g.68059902G>C Copied from the Exome Variant Server EFNB1_000020 1/10563 0/6728 1/3835
?/? c.628+31G>A r.(=) p.(=) g.68059962G>A Copied from the Exome Variant Server EFNB1_000021 1/10563 0/6728 1/3835
?/? c.645A>G r.(=) p.(=) g.68060101A>G Copied from the Exome Variant Server EFNB1_000022 1/10563 1/6728 0/3835
?/? c.666A>G r.(=) p.(=) g.68060122A>G Copied from the Exome Variant Server EFNB1_000023 1/10563 1/6728 0/3835
?/? c.685G>T r.(?) p.(Asp229Tyr) g.68060141G>T Copied from the Exome Variant Server EFNB1_000024 1/10563 1/6728 0/3835
?/? c.704A>C r.(?) p.(Asn235Thr) g.68060160A>C Copied from the Exome Variant Server EFNB1_000025 2/10563 1/6728 1/3835
?/? c.744C>T r.(=) p.(=) g.68060200C>T Copied from the Exome Variant Server EFNB1_000026 1/10563 1/6728 0/3835
?/? c.745G>C r.(?) p.(Val249Leu) g.68060201G>C Copied from the Exome Variant Server EFNB1_000027 1/10563 1/6728 0/3835
?/? c.759C>T r.(=) p.(=) g.68060215C>T Copied from the Exome Variant Server EFNB1_000028 180/10563 0/6728 180/3835
?/? c.774G>A r.(=) p.(=) g.68060230G>A Copied from the Exome Variant Server EFNB1_000029 1/10563 1/6728 0/3835
?/? c.827G>A r.(?) p.(Arg276Gln) g.68060283G>A Copied from the Exome Variant Server EFNB1_000030 1/10562 0/6727 1/3835
?/? c.843G>A r.(=) p.(=) g.68060299G>A Copied from the Exome Variant Server EFNB1_000031 2/10562 2/6727 0/3835
?/? c.880A>G r.(?) p.(Thr294Ala) g.68060336A>G Copied from the Exome Variant Server EFNB1_000032 1/10563 1/6728 0/3835
?/? c.884C>T r.(?) p.(Ala295Val) g.68060340C>T Copied from the Exome Variant Server EFNB1_000033 1/10562 1/6727 0/3835
?/? c.891C>T r.(=) p.(=) g.68060347C>T Copied from the Exome Variant Server EFNB1_000034 10/10562 9/6727 1/3835
?/? c.978C>A r.(?) p.(His326Gln) g.68060434C>A Copied from the Exome Variant Server EFNB1_000035 2/10563 2/6728 0/3835
?/? c.991G>T r.(?) p.(Val331Phe) g.68060447G>T Copied from the Exome Variant Server EFNB1_000036 1/10563 1/6728 0/3835
?/? c.1004C>T r.(?) p.(Pro335Leu) g.68060460C>T Copied from the Exome Variant Server EFNB1_000037 1/10563 1/6728 0/3835
?/? c.*6C>T r.(=) p.(=) g.68060503C>T Copied from the Exome Variant Server EFNB1_000038 1044/10561 756/6727 288/3834
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