All transcript variants in gene LHFPL1

Information The variants shown are described using the NM_178175.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-14A>G r.(=) p.(=) g.111914632T>C Copied from the Exome Variant Server LHFPL1_000033 54/10563 0/6728 54/3835
?/? c.1A>G r.? p.? g.111914618T>C Copied from the Exome Variant Server LHFPL1_000032 1/10563 1/6728 0/3835
?/? c.30C>G r.(=) p.(=) g.111914589G>C Copied from the Exome Variant Server LHFPL1_000031 1/10563 0/6728 1/3835
?/? c.31C>T r.(?) p.(Leu11Phe) g.111914588G>A Copied from the Exome Variant Server LHFPL1_000030 1/10563 0/6728 1/3835
?/? c.84C>T r.(=) p.(=) g.111914535G>A Copied from the Exome Variant Server LHFPL1_000028 373/10563 5/6728 368/3835
?/? c.100T>C r.(?) p.(Phe34Leu) g.111914519A>G Copied from the Exome Variant Server LHFPL1_000026 9/10563 0/6728 9/3835
?/? c.159T>C r.(=) p.(=) g.111914460A>G Copied from the Exome Variant Server LHFPL1_000024 1/10563 0/6728 1/3835
?/? c.224C>T r.(?) p.(Ala75Val) g.111914395G>A Copied from the Exome Variant Server LHFPL1_000022 35/10563 0/6728 35/3835
?/? c.277G>T r.(?) p.(Ala93Ser) g.111914342C>A Copied from the Exome Variant Server LHFPL1_000029 2/10563 2/6728 0/3835
?/? c.352C>T r.(?) p.(Arg118Cys) g.111914267G>A Copied from the Exome Variant Server LHFPL1_000027 1/10563 1/6728 0/3835
?/? c.375T>C r.(=) p.(=) g.111914244A>G Copied from the Exome Variant Server LHFPL1_000025 2917/10563 522/6728 2395/3835
?/? c.382+25G>A r.(=) p.(=) g.111914212C>T Copied from the Exome Variant Server LHFPL1_000023 1/10563 0/6728 1/3835
?/? c.382+49G>A r.(=) p.(=) g.111914188C>T Copied from the Exome Variant Server LHFPL1_000021 1/10563 1/6728 0/3835
?/? c.382+52G>A r.(=) p.(=) g.111914185C>T Copied from the Exome Variant Server LHFPL1_000020 5/4525 0/3107 5/1418
?/? c.383-40C>T r.(=) p.(=) g.111903993G>A Copied from the Exome Variant Server LHFPL1_000019 1/10563 1/6728 0/3835
?/? c.383-29T>G r.(=) p.(=) g.111903982A>C Copied from the Exome Variant Server LHFPL1_000018 1/10563 1/6728 0/3835
?/? c.383-26T>C r.(=) p.(=) g.111903979A>G Copied from the Exome Variant Server LHFPL1_000017 7/10563 6/6728 1/3835
?/? c.383-21G>A r.(=) p.(=) g.111903974C>T Copied from the Exome Variant Server LHFPL1_000016 1/10563 1/6728 0/3835
?/? c.383-20T>C r.(=) p.(=) g.111903973A>G Copied from the Exome Variant Server LHFPL1_000015 1/10563 1/6728 0/3835
?/? c.383-2A>G r.spl? p.? g.111903955T>C Copied from the Exome Variant Server LHFPL1_000014 1/10563 1/6728 0/3835
?/? c.434C>T r.(?) p.(Pro145Leu) g.111903902G>A Copied from the Exome Variant Server LHFPL1_000013 9/10563 0/6728 9/3835
?/? c.465C>T r.(=) p.(=) g.111903871G>A Copied from the Exome Variant Server LHFPL1_000012 2/10563 0/6728 2/3835
?/? c.466A>G r.(?) p.(Asn156Asp) g.111903870T>C Copied from the Exome Variant Server LHFPL1_000011 1/10563 1/6728 0/3835
?/? c.481+7T>C r.(=) p.(=) g.111903848A>G Copied from the Exome Variant Server LHFPL1_000010 63/10563 0/6728 63/3835
?/? c.481+34C>T r.(=) p.(=) g.111903821G>A Copied from the Exome Variant Server LHFPL1_000009 3/10563 0/6728 3/3835
?/? c.482-7C>T r.(=) p.(=) g.111874836G>A Copied from the Exome Variant Server LHFPL1_000008 18/10563 1/6728 17/3835
?/? c.491G>A r.(?) p.(Arg164Gln) g.111874820C>T Copied from the Exome Variant Server LHFPL1_000007 1/10562 1/6727 0/3835
?/? c.520G>A r.(?) p.(Gly174Ser) g.111874791C>T Copied from the Exome Variant Server LHFPL1_000006 2/10563 2/6728 0/3835
?/? c.533C>T r.(?) p.(Ala178Val) g.111874778G>A Copied from the Exome Variant Server LHFPL1_000005 4/10563 3/6728 1/3835
?/? c.582C>T r.(=) p.(=) g.111874729G>A Copied from the Exome Variant Server LHFPL1_000004 1/10563 0/6728 1/3835
?/? c.608T>A r.(?) p.(Ile203Asn) g.111874703A>T Copied from the Exome Variant Server LHFPL1_000003 1/10563 0/6728 1/3835
?/? c.629A>C r.(?) p.(Tyr210Ser) g.111874682T>G Copied from the Exome Variant Server LHFPL1_000002 67/10563 0/6728 67/3835
?/? c.*26G>T r.(=) p.(=) g.111874622C>A Copied from the Exome Variant Server LHFPL1_000001 359/10563 1/6728 358/3835
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