Unique variants in gene GPC3

Information The variants shown are described using the NM_004484.3 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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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.-39G>A r.(=) p.(=) g.133119515C>T Copied from the Exome Variant Server GPC3_000063 123/9217 1/5816 122/3401
1 c.172C>T r.(?) p.(Pro58Ser) g.133119305G>A Copied from the Exome Variant Server GPC3_000062 2/10562 2/6728 0/3834
1 c.175+31G>T r.(=) p.(=) g.133119271C>A Copied from the Exome Variant Server GPC3_000061 1/10557 1/6724 0/3833
1 c.175+37C>G r.(=) p.(=) g.133119265G>C Copied from the Exome Variant Server GPC3_000060 1/10552 1/6722 0/3830
1 c.176-40G>C r.(=) p.(=) g.133087278C>G Copied from the Exome Variant Server GPC3_000059 1/10563 0/6728 1/3835
1 c.176-40_176-39del r.(=) p.(=) g.133087277_133087278del Copied from the Exome Variant Server GPC3_000058 2/10205 2/6484 0/3721
1 c.204G>A r.(=) p.(=) g.133087210C>T Copied from the Exome Variant Server GPC3_000057 155/10563 0/6728 155/3835
1 c.337+25T>C r.(=) p.(=) g.133087052A>G Copied from the Exome Variant Server GPC3_000056 1/10563 0/6728 1/3835
1 c.338-19T>C r.(=) p.(=) g.132888222A>G Copied from the Exome Variant Server GPC3_000055 3/10563 3/6728 0/3835
1 c.359G>A r.(?) p.(Arg120His) g.132888182C>T Copied from the Exome Variant Server GPC3_000054 7/10563 0/6728 7/3835
1 c.394A>G r.(?) p.(Asn132Asp) g.132888147T>C Copied from the Exome Variant Server GPC3_000053 1/10563 0/6728 1/3835
1 c.415C>T r.(?) p.(Pro139Ser) g.132888126G>A Copied from the Exome Variant Server GPC3_000052 1/10563 0/6728 1/3835
1 c.516C>T r.(=) p.(=) g.132888025G>A Copied from the Exome Variant Server GPC3_000051 1/10563 0/6728 1/3835
1 c.545T>C r.(?) p.(Leu182Pro) g.132887996A>G Copied from the Exome Variant Server GPC3_000050 1/10563 0/6728 1/3835
1 c.608G>A r.(?) p.(Arg203His) g.132887933C>T Copied from the Exome Variant Server GPC3_000049 1/10563 0/6728 1/3835
1 c.624T>A r.(?) p.(Phe208Leu) g.132887917A>T Copied from the Exome Variant Server GPC3_000048 1/10563 0/6728 1/3835
1 c.660C>T r.(=) p.(=) g.132887881G>A Copied from the Exome Variant Server GPC3_000047 7/10563 6/6728 1/3835
1 c.672A>G r.(=) p.(=) g.132887869T>C Copied from the Exome Variant Server GPC3_000046 1/10563 0/6728 1/3835
1 c.676A>G r.(?) p.(Thr226Ala) g.132887865T>C Copied from the Exome Variant Server GPC3_000045 4/10563 0/6728 4/3835
1 c.826G>A r.(?) p.(Gly276Ser) g.132887715C>T Copied from the Exome Variant Server GPC3_000044 8/10563 0/6728 8/3835
1 c.844A>G r.(?) p.(Met282Val) g.132887697T>C Copied from the Exome Variant Server GPC3_000043 1/10563 1/6728 0/3835
1 c.876T>C r.(=) p.(=) g.132887665A>G Copied from the Exome Variant Server GPC3_000042 6/10563 6/6728 0/3835
1 c.889A>G r.(?) p.(Arg297Gly) g.132887652T>C Copied from the Exome Variant Server GPC3_000041 2/10563 2/6728 0/3835
1 c.923A>G r.(?) p.(Asn308Ser) g.132887618T>C Copied from the Exome Variant Server GPC3_000040 1/10563 0/6728 1/3835
1 c.924T>A r.(?) p.(Asn308Lys) g.132887617A>T Copied from the Exome Variant Server GPC3_000039 1/10563 1/6728 0/3835
1 c.947T>A r.(?) p.(Met316Lys) g.132887594A>T Copied from the Exome Variant Server GPC3_000038 1/10563 1/6728 0/3835
1 c.958C>G r.(?) p.(Leu320Val) g.132887583G>C Copied from the Exome Variant Server GPC3_000037 1/10563 0/6728 1/3835
1 c.995A>G r.(?) p.(Gln332Arg) g.132887546T>C Copied from the Exome Variant Server GPC3_000036 7/10563 0/6728 7/3835
1 c.1032+9C>T r.(=) p.(=) g.132887500G>A Copied from the Exome Variant Server GPC3_000035 11/10563 11/6728 0/3835
1 c.1032+21G>T r.(=) p.(=) g.132887488C>A Copied from the Exome Variant Server GPC3_000034 1/10563 1/6728 0/3835
1 c.1033-4234G>A r.(=) p.(=) g.132838290C>T Copied from the Exome Variant Server GPC3_000033 112/7902 0/5341 112/2561
1 c.1033-4157C>T r.(=) p.(=) g.132838213G>A Copied from the Exome Variant Server GPC3_000032 5/7964 5/5388 0/2576
1 c.1037G>T r.(?) p.(Gly346Val) g.132834052C>A Copied from the Exome Variant Server GPC3_000031 1/10561 0/6726 1/3835
1 c.1068A>G r.(=) p.(=) g.132834021T>C Copied from the Exome Variant Server GPC3_000030 1/10561 0/6726 1/3835
1 c.1114G>A r.(?) p.(Val372Ile) g.132833975C>T Copied from the Exome Variant Server GPC3_000029 2/10558 2/6723 0/3835
1 c.1131T>C r.(=) p.(=) g.132833958A>G Copied from the Exome Variant Server GPC3_000028 1/10561 1/6726 0/3835
1 c.1149C>T r.(=) p.(=) g.132833940G>A Copied from the Exome Variant Server GPC3_000027 3/10561 2/6726 1/3835
1 c.1160G>A r.(?) p.(Arg387Gln) g.132833929C>T Copied from the Exome Variant Server GPC3_000026 2/10560 2/6727 0/3833
1 c.1166+36A>G r.(=) p.(=) g.132833887T>C Copied from the Exome Variant Server GPC3_000025 1/10537 0/6707 1/3830
1 c.1167-50A>G r.(=) p.(=) g.132826572T>C Copied from the Exome Variant Server GPC3_000024 7/10560 7/6725 0/3835
1 c.1167-27T>C r.(=) p.(=) g.132826549A>G Copied from the Exome Variant Server GPC3_000023 35/10563 34/6728 1/3835
1 c.1167-18G>A r.(=) p.(=) g.132826540C>T Copied from the Exome Variant Server GPC3_000022 1/10563 0/6728 1/3835
1 c.1167-8T>C r.(=) p.(=) g.132826530A>G Copied from the Exome Variant Server GPC3_000021 20/10563 18/6728 2/3835
1 c.1232G>T r.(?) p.(Ser411Ile) g.132826457C>A Copied from the Exome Variant Server GPC3_000020 1/10563 1/6728 0/3835
1 c.1254C>T r.(=) p.(=) g.132826435G>A Copied from the Exome Variant Server GPC3_000019 6/10563 3/6728 3/3835
1 c.1259C>G r.(?) p.(Thr420Ser) g.132826430G>C Copied from the Exome Variant Server GPC3_000018 1/10563 1/6728 0/3835
1 c.1266C>T r.(=) p.(=) g.132826423G>A Copied from the Exome Variant Server GPC3_000017 1/10563 1/6728 0/3835
1 c.1285G>A r.(?) p.(Val429Met) g.132826404C>T Copied from the Exome Variant Server GPC3_000016 29/10563 25/6728 4/3835
1 c.1293-50T>C r.(=) p.(=) g.132795928A>G Copied from the Exome Variant Server GPC3_000015 4/10563 4/6728 0/3835
1 c.1293-28A>G r.(=) p.(=) g.132795906T>C Copied from the Exome Variant Server GPC3_000014 92/10563 0/6728 92/3835
1 c.1293-21T>G r.(=) p.(=) g.132795899A>C Copied from the Exome Variant Server GPC3_000013 1/10563 0/6728 1/3835
1 c.1359G>C r.(?) p.(Lys453Asn) g.132795812C>G Copied from the Exome Variant Server GPC3_000012 2/10563 1/6728 1/3835
1 c.1404C>T r.(=) p.(=) g.132795767G>A Copied from the Exome Variant Server GPC3_000011 1/10563 1/6728 0/3835
1 c.1500T>C r.(=) p.(=) g.132730541A>G Copied from the Exome Variant Server GPC3_000010 853/10563 9/6728 844/3835
1 c.1573+20C>T r.(=) p.(=) g.132730448G>A Copied from the Exome Variant Server GPC3_000009 1/10563 1/6728 0/3835
1 c.1573+27T>C r.(=) p.(=) g.132730441A>G Copied from the Exome Variant Server GPC3_000008 1/10563 0/6728 1/3835
1 c.1574-7_1574-4del r.spl? p.? g.132670325_132670328del Copied from the Exome Variant Server GPC3_000007 5/10205 5/6484 0/3721
1 c.1616G>C r.(?) p.(Ser539Thr) g.132670279C>G Copied from the Exome Variant Server GPC3_000006 1/10563 1/6728 0/3835
1 c.1626A>G r.(=) p.(=) g.132670269T>C Copied from the Exome Variant Server GPC3_000005 746/10563 5/6728 741/3835
1 c.1642G>A r.(?) p.(Glu548Lys) g.132670253C>T Copied from the Exome Variant Server GPC3_000004 1/10563 0/6728 1/3835
1 c.1713G>A r.(=) p.(=) g.132670182C>T Copied from the Exome Variant Server GPC3_000003 4/10563 0/6728 4/3835
1 c.*7G>T r.(=) p.(=) g.132670145C>A Copied from the Exome Variant Server GPC3_000002 1/10563 1/6728 0/3835
1 c.*31A>G r.(=) p.(=) g.132670121T>C Copied from the Exome Variant Server GPC3_000001 19/10563 1/6728 18/3835
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