Unique variants in gene GPC4

Information The variants shown are described using the NM_001448.2 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-27G>A r.(=) p.(=) g.132549020C>T Copied from the Exome Variant Server GPC4_000056 1/10546 0/6717 1/3829
1 c.-20C>T r.(=) p.(=) g.132549013G>A Copied from the Exome Variant Server GPC4_000055 4668/10548 2129/6719 2539/3829
1 c.38T>A r.(?) p.(Leu13Gln) g.132548956A>T Copied from the Exome Variant Server GPC4_000054 5/10562 5/6727 0/3835
1 c.54C>T r.(=) p.(=) g.132548940G>A Copied from the Exome Variant Server GPC4_000053 1/10563 1/6728 0/3835
1 c.123C>T r.(=) p.(=) g.132548871G>A Copied from the Exome Variant Server GPC4_000052 1/10563 1/6728 0/3835
1 c.142C>T r.(?) p.(Pro48Ser) g.132548852G>A Copied from the Exome Variant Server GPC4_000051 1/10563 0/6728 1/3835
1 c.160+21G>C r.(=) p.(=) g.132548813C>G Copied from the Exome Variant Server GPC4_000050 1/10563 1/6728 0/3835
1 c.160+33G>A r.(=) p.(=) g.132548801C>T Copied from the Exome Variant Server GPC4_000049 1/10563 1/6728 0/3835
1 c.205C>G r.(?) p.(Gln69Glu) g.132473325G>C Copied from the Exome Variant Server GPC4_000048 1/10563 1/6728 0/3835
1 c.251A>G r.(?) p.(Lys84Arg) g.132473279T>C Copied from the Exome Variant Server GPC4_000047 1/10563 1/6728 0/3835
1 c.276T>A r.(?) p.(Asn92Lys) g.132473254A>T Copied from the Exome Variant Server GPC4_000046 1/10563 1/6728 0/3835
1 c.301C>T r.(?) p.(Arg101Cys) g.132473229G>A Copied from the Exome Variant Server GPC4_000045 1/10563 1/6728 0/3835
1 c.360G>T r.(=) p.(=) g.132458524C>A Copied from the Exome Variant Server GPC4_000044 4/10563 0/6728 4/3835
1 c.443G>A r.(?) p.(Arg148His) g.132458441C>T Copied from the Exome Variant Server GPC4_000043 1/10563 0/6728 1/3835
1 c.452T>G r.(?) p.(Val151Gly) g.132458432A>C Copied from the Exome Variant Server GPC4_000042 1/10563 1/6728 0/3835
1 c.520C>T r.(?) p.(Arg174Cys) g.132458364G>A Copied from the Exome Variant Server GPC4_000041 1/10563 1/6728 0/3835
1 c.526G>A r.(?) p.(Val176Met) g.132458358C>T Copied from the Exome Variant Server GPC4_000040 1/10563 1/6728 0/3835
1 c.555G>A r.(=) p.(=) g.132458329C>T Copied from the Exome Variant Server GPC4_000039 15/10563 0/6728 15/3835
1 c.646G>T r.(?) p.(Val216Leu) g.132458238C>A Copied from the Exome Variant Server GPC4_000038 2/10563 2/6728 0/3835
1 c.709G>A r.(?) p.(Val237Met) g.132458175C>T Copied from the Exome Variant Server GPC4_000037 1/10563 1/6728 0/3835
1 c.711+15T>A r.(=) p.(=) g.132458158A>T Copied from the Exome Variant Server GPC4_000036 2/10563 0/6728 2/3835
1 c.711+44C>G r.(=) p.(=) g.132458129G>C Copied from the Exome Variant Server GPC4_000035 411/10563 2/6728 409/3835
1 c.735C>T r.(=) p.(=) g.132445428G>A Copied from the Exome Variant Server GPC4_000034 2/10563 0/6728 2/3835
1 c.772C>T r.(?) p.(Arg258Trp) g.132445391G>A Copied from the Exome Variant Server GPC4_000033 1/10563 1/6728 0/3835
1 c.817A>G r.(?) p.(Ile273Val) g.132445346T>C Copied from the Exome Variant Server GPC4_000031 2/10563 0/6728 2/3835
1 c.877+19T>C r.(=) p.(=) g.132445267A>G Copied from the Exome Variant Server GPC4_000032 1/10563 1/6728 0/3835
1 c.877+36A>G r.(=) p.(=) g.132445250T>C Copied from the Exome Variant Server GPC4_000030 1/10563 1/6728 0/3835
1 c.878-11C>T r.(=) p.(=) g.132440193G>A Copied from the Exome Variant Server GPC4_000029 1/10563 1/6728 0/3835
1 c.878-4T>C r.spl? p.? g.132440186A>G Copied from the Exome Variant Server GPC4_000028 1/10563 0/6728 1/3835
1 c.929C>T r.(?) p.(Ser310Leu) g.132440131G>A Copied from the Exome Variant Server GPC4_000027 1/10563 0/6728 1/3835
1 c.949G>A r.(?) p.(Val317Met) g.132440111C>T Copied from the Exome Variant Server GPC4_000026 1/10563 1/6728 0/3835
1 c.1008+15A>G r.(=) p.(=) g.132440037T>C Copied from the Exome Variant Server GPC4_000025 1/10563 0/6728 1/3835
1 c.1008+17G>A r.(=) p.(=) g.132440035C>T Copied from the Exome Variant Server GPC4_000024 1/10563 0/6728 1/3835
1 c.1008+35_1008+38del r.(=) p.(=) g.132440014_132440017del Copied from the Exome Variant Server GPC4_000023 2/10205 0/6484 2/3721
1 c.1008+45C>G r.(=) p.(=) g.132440007G>C Copied from the Exome Variant Server GPC4_000022 1/10563 0/6728 1/3835
1 c.1008+52G>A r.(=) p.(=) g.132440000C>T Copied from the Exome Variant Server GPC4_000021 3/4525 0/3107 3/1418
1 c.1009-20C>T r.(=) p.(=) g.132439966G>A Copied from the Exome Variant Server GPC4_000020 1/10563 1/6728 0/3835
1 c.1009-10T>C r.(=) p.(=) g.132439956A>G Copied from the Exome Variant Server GPC4_000019 1/10563 1/6728 0/3835
1 c.1014C>T r.(=) p.(=) g.132439941G>A Copied from the Exome Variant Server GPC4_000018 1/10563 1/6728 0/3835
1 c.1033A>G r.(?) p.(Lys345Glu) g.132439922T>C Copied from the Exome Variant Server GPC4_000017 1/10563 1/6728 0/3835
1 c.1128A>G r.(=) p.(=) g.132439827T>C Copied from the Exome Variant Server GPC4_000016 1/10563 0/6728 1/3835
1 c.1155+16G>A r.(=) p.(=) g.132439784C>T Copied from the Exome Variant Server GPC4_000015 9/10563 0/6728 9/3835
1 c.1156-35A>G r.(=) p.(=) g.132438924T>C Copied from the Exome Variant Server GPC4_000014 8/10563 3/6728 5/3835
1 c.1156-25T>G r.(=) p.(=) g.132438914A>C Copied from the Exome Variant Server GPC4_000057 2/10563 2/6728 0/3835
1 c.1173G>T r.(?) p.(Glu391Asp) g.132438872C>A Copied from the Exome Variant Server GPC4_000012 4275/10563 1986/6728 2289/3835
1 c.1211C>G r.(?) p.(Pro404Arg) g.132438834G>C Copied from the Exome Variant Server GPC4_000010 1/10563 1/6728 0/3835
1 c.1239G>A r.(?) p.(Met413Ile) g.132438806C>T Copied from the Exome Variant Server GPC4_000008 2/10563 0/6728 2/3835
1 c.1293-15C>T r.(=) p.(=) g.132437384G>A Copied from the Exome Variant Server GPC4_000006 1/10563 1/6728 0/3835
1 c.1293-3C>T r.spl? p.? g.132437372G>A Copied from the Exome Variant Server GPC4_000004 1/10563 1/6728 0/3835
1 c.1325C>T r.(?) p.(Ala442Val) g.132437337G>A Copied from the Exome Variant Server GPC4_000002 4276/10563 1986/6728 2290/3835
1 c.1412T>C r.(?) p.(Met471Thr) g.132437250A>G Copied from the Exome Variant Server GPC4_000013 1/10563 0/6728 1/3835
1 c.1468+34C>G r.(=) p.(=) g.132437160G>C Copied from the Exome Variant Server GPC4_000011 1/10563 1/6728 0/3835
1 c.1560G>A r.(=) p.(=) g.132437006C>T Copied from the Exome Variant Server GPC4_000009 2/10563 0/6728 2/3835
1 c.1598G>A r.(?) p.(Arg533His) g.132436968C>T Copied from the Exome Variant Server GPC4_000007 1/10563 0/6728 1/3835
1 c.1613C>T r.(?) p.(Ala538Val) g.132436953G>A Copied from the Exome Variant Server GPC4_000005 1/10563 0/6728 1/3835
1 c.1648G>A r.(?) p.(Val550Ile) g.132436918C>T Copied from the Exome Variant Server GPC4_000003 1/10563 1/6728 0/3835
1 c.1658G>C r.(?) p.(Arg553Thr) g.132436908C>G Copied from the Exome Variant Server GPC4_000001 1/10563 1/6728 0/3835
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