Unique variants in gene PDIA5

Information The variants shown are described using the NM_006810.3 transcript reference sequence.

164 entries on 2 pages. Showing entries 1 - 100.
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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.-10C>A r.(=) p.(=) g.122786002C>A Copied from the Exome Variant Server PDIA5_000001 1/8952 1/5734 0/3218
1 c.43-20G>A r.(=) p.(=) g.122807995G>A Copied from the Exome Variant Server PDIA5_000002 6563/13006 5233/8600 1330/4406
1 c.49C>A r.(?) p.(Leu17Met) g.122808021C>A Copied from the Exome Variant Server PDIA5_000003 1/13006 0/8600 1/4406
1 c.98T>A r.(?) p.(Ile33Asn) g.122808070T>A Copied from the Exome Variant Server PDIA5_000004 1/13006 1/8600 0/4406
1 c.169+9C>T r.(=) p.(=) g.122808150C>T Copied from the Exome Variant Server PDIA5_000005 1/13006 0/8600 1/4406
1 c.169+19C>G r.(=) p.(=) g.122808160C>G Copied from the Exome Variant Server PDIA5_000006 1/13006 1/8600 0/4406
1 c.170-29A>C r.(=) p.(=) g.122811173A>C Copied from the Exome Variant Server PDIA5_000007 1/13006 1/8600 0/4406
1 c.170-28T>C r.(=) p.(=) g.122811174T>C Copied from the Exome Variant Server PDIA5_000008 202/13006 0/8600 202/4406
1 c.174G>A r.(=) p.(=) g.122811206G>A Copied from the Exome Variant Server PDIA5_000009 1/13006 0/8600 1/4406
1 c.193A>G r.(?) p.(Arg65Gly) g.122811225A>G Copied from the Exome Variant Server PDIA5_000010 1/13006 1/8600 0/4406
1 c.208G>A r.(?) p.(Val70Met) g.122811240G>A Copied from the Exome Variant Server PDIA5_000011 1/13006 1/8600 0/4406
1 c.218C>T r.(?) p.(Ala73Val) g.122811250C>T Copied from the Exome Variant Server PDIA5_000012 428/13006 6/8600 422/4406
1 c.219G>A r.(=) p.(=) g.122811251G>A Copied from the Exome Variant Server PDIA5_000013 6/13006 4/8600 2/4406
1 c.234G>T r.(=) p.(=) g.122811266G>T Copied from the Exome Variant Server PDIA5_000014 1/13006 1/8600 0/4406
1 c.237C>A r.(=) p.(=) g.122811269C>A Copied from the Exome Variant Server PDIA5_000015 1/13006 0/8600 1/4406
1 c.257+35G>A r.(=) p.(=) g.122811324G>A Copied from the Exome Variant Server PDIA5_000016 1/13006 0/8600 1/4406
1 c.258-37C>T r.(=) p.(=) g.122821221C>T Copied from the Exome Variant Server PDIA5_000017 237/13006 210/8600 27/4406
1 c.258-25G>A r.(=) p.(=) g.122821233G>A Copied from the Exome Variant Server PDIA5_000018 9/13006 0/8600 9/4406
1 c.276_277insT r.(?) p.(Leu93Phefs*8) g.122821276_122821277insT Copied from the Exome Variant Server PDIA5_000019 1/12520 1/8254 0/4266
1 c.306C>T r.(=) p.(=) g.122821306C>T Copied from the Exome Variant Server PDIA5_000020 1/13006 0/8600 1/4406
1 c.320A>C r.(?) p.(Lys107Thr) g.122821320A>C Copied from the Exome Variant Server PDIA5_000021 1/13006 1/8600 0/4406
1 c.341+24A>G r.(=) p.(=) g.122821365A>G Copied from the Exome Variant Server PDIA5_000022 2/13006 2/8600 0/4406
1 c.341+44T>C r.(=) p.(=) g.122821385T>C Copied from the Exome Variant Server PDIA5_000023 11801/13006 8201/8600 3600/4406
1 c.342-41A>G r.(=) p.(=) g.122821557A>G Copied from the Exome Variant Server PDIA5_000024 1/13006 0/8600 1/4406
1 c.385A>G r.(?) p.(Lys129Glu) g.122821641A>G Copied from the Exome Variant Server PDIA5_000025 2/13006 2/8600 0/4406
1 c.387+28A>G r.(=) p.(=) g.122821671A>G Copied from the Exome Variant Server PDIA5_000026 8029/13006 6189/8600 1840/4406
1 c.387+29T>A r.(=) p.(=) g.122821672T>A Copied from the Exome Variant Server PDIA5_000027 7793/13006 6013/8600 1780/4406
1 c.387+33G>A r.(=) p.(=) g.122821676G>A Copied from the Exome Variant Server PDIA5_000028 2/13006 0/8600 2/4406
1 c.387+47C>T r.(=) p.(=) g.122821690C>T Copied from the Exome Variant Server PDIA5_000029 1/13006 0/8600 1/4406
1 c.387+78del r.(=) p.(=) g.122821721del Copied from the Exome Variant Server PDIA5_000030 1/12518 0/8252 1/4266
1 c.388-51del r.(=) p.(=) g.122825545del Copied from the Exome Variant Server PDIA5_000032 2/12520 1/8254 1/4266
1 c.388-31T>C r.(=) p.(=) g.122825565T>C Copied from the Exome Variant Server PDIA5_000033 12/13006 0/8600 12/4406
1 c.388-6C>A r.(=) p.(=) g.122825590C>A Copied from the Exome Variant Server PDIA5_000035 266/13006 9/8600 257/4406
1 c.456T>G r.(?) p.(Asp152Glu) g.122825664T>G Copied from the Exome Variant Server PDIA5_000037 2/13006 2/8600 0/4406
1 c.473G>T r.(?) p.(Ser158Ile) g.122825681G>T Copied from the Exome Variant Server PDIA5_000039 1/13006 0/8600 1/4406
1 c.480+14C>T r.(=) p.(=) g.122825702C>T Copied from the Exome Variant Server PDIA5_000041 2/13006 0/8600 2/4406
1 c.480+15G>A r.(=) p.(=) g.122825703G>A Copied from the Exome Variant Server PDIA5_000043 4/13006 0/8600 4/4406
1 c.481-68C>T r.(=) p.(=) g.122829723C>T Copied from the Exome Variant Server PDIA5_000045 1/4566 1/3182 0/1384
1 c.481-67G>A r.(=) p.(=) g.122829724G>A Copied from the Exome Variant Server PDIA5_000047 17/4566 1/3182 16/1384
1 c.481-62del r.(=) p.(=) g.122829729del Copied from the Exome Variant Server PDIA5_000049 31/12520 18/8254 13/4266
1 c.481-32C>T r.(=) p.(=) g.122829759C>T Copied from the Exome Variant Server PDIA5_000051 1/13006 0/8600 1/4406
1 c.481-31G>A r.(=) p.(=) g.122829760G>A Copied from the Exome Variant Server PDIA5_000053 3/13006 0/8600 3/4406
1 c.481-26G>A r.(=) p.(=) g.122829765G>A Copied from the Exome Variant Server PDIA5_000055 50/13006 45/8600 5/4406
1 c.490C>T r.(?) p.(Arg164Trp) g.122829800C>T Copied from the Exome Variant Server PDIA5_000057 2/13006 0/8600 2/4406
1 c.515C>T r.(?) p.(Pro172Leu) g.122829825C>T Copied from the Exome Variant Server PDIA5_000059 3/13006 2/8600 1/4406
1 c.517C>A r.(?) p.(Leu173Ile) g.122829827C>A Copied from the Exome Variant Server PDIA5_000061 1/13006 1/8600 0/4406
1 c.538C>T r.(?) p.(Pro180Ser) g.122829848C>T Copied from the Exome Variant Server PDIA5_000062 1/13006 1/8600 0/4406
1 c.541+47T>C r.(=) p.(=) g.122829898T>C Copied from the Exome Variant Server PDIA5_000064 2/13006 2/8600 0/4406
1 c.541+73del r.(=) p.(=) g.122829924del Copied from the Exome Variant Server PDIA5_000066 1/12518 0/8254 1/4264
1 c.542-31C>T r.(=) p.(=) g.122835047C>T Copied from the Exome Variant Server PDIA5_000068 1/13006 1/8600 0/4406
1 c.542-30G>A r.(=) p.(=) g.122835048G>A Copied from the Exome Variant Server PDIA5_000031 6/13006 0/8600 6/4406
1 c.569C>T r.(?) p.(Pro190Leu) g.122835105C>T Copied from the Exome Variant Server PDIA5_000034 1/13006 1/8600 0/4406
1 c.587C>T r.(?) p.(Ala196Val) g.122835123C>T Copied from the Exome Variant Server PDIA5_000036 1/13006 1/8600 0/4406
1 c.588G>A r.(=) p.(=) g.122835124G>A Copied from the Exome Variant Server PDIA5_000038 1/13006 0/8600 1/4406
1 c.607G>A r.(?) p.(Ala203Thr) g.122835143G>A Copied from the Exome Variant Server PDIA5_000040 2/13006 1/8600 1/4406
1 c.608C>T r.(?) p.(Ala203Val) g.122835144C>T Copied from the Exome Variant Server PDIA5_000042 1/13006 1/8600 0/4406
1 c.609+1G>A r.spl? p.? g.122835146G>A Copied from the Exome Variant Server PDIA5_000044 1/13006 0/8600 1/4406
1 c.609+50C>T r.(=) p.(=) g.122835195C>T Copied from the Exome Variant Server PDIA5_000046 1/13006 1/8600 0/4406
1 c.609+51G>A r.(=) p.(=) g.122835196G>A Copied from the Exome Variant Server PDIA5_000048 1/13006 1/8600 0/4406
1 c.610-24C>T r.(=) p.(=) g.122842889C>T Copied from the Exome Variant Server PDIA5_000050 1/13006 1/8600 0/4406
1 c.610-12G>A r.(=) p.(=) g.122842901G>A Copied from the Exome Variant Server PDIA5_000052 2/13006 1/8600 1/4406
1 c.618C>T r.(=) p.(=) g.122842921C>T Copied from the Exome Variant Server PDIA5_000054 1/13006 0/8600 1/4406
1 c.664T>C r.(?) p.(Tyr222His) g.122842967T>C Copied from the Exome Variant Server PDIA5_000056 1/13006 0/8600 1/4406
1 c.666C>T r.(=) p.(=) g.122842969C>T Copied from the Exome Variant Server PDIA5_000058 2/13006 0/8600 2/4406
1 c.670G>A r.(?) p.(Val224Met) g.122842973G>A Copied from the Exome Variant Server PDIA5_000060 1/13006 0/8600 1/4406
1 c.678C>G r.(=) p.(=) g.122842981C>G Copied from the Exome Variant Server PDIA5_000063 1/13006 1/8600 0/4406
1 c.691T>A r.(?) p.(Cys231Ser) g.122842994T>A Copied from the Exome Variant Server PDIA5_000065 2/13006 2/8600 0/4406
1 c.701+5G>A r.spl? p.? g.122843009G>A Copied from the Exome Variant Server PDIA5_000067 1/13006 0/8600 1/4406
1 c.701+16T>C r.(=) p.(=) g.122843020T>C Copied from the Exome Variant Server PDIA5_000069 2383/13006 1751/8600 632/4406
1 c.701+36C>T r.(=) p.(=) g.122843040C>T Copied from the Exome Variant Server PDIA5_000070 2/13006 2/8600 0/4406
1 c.702-9G>T r.(=) p.(=) g.122843110G>T Copied from the Exome Variant Server PDIA5_000071 9002/13006 6769/8600 2233/4406
1 c.710G>A r.(?) p.(Arg237Gln) g.122843127G>A Copied from the Exome Variant Server PDIA5_000072 1/13006 1/8600 0/4406
1 c.720C>T r.(=) p.(=) g.122843137C>T Copied from the Exome Variant Server PDIA5_000073 1/13006 1/8600 0/4406
1 c.762G>A r.(=) p.(=) g.122843179G>A Copied from the Exome Variant Server PDIA5_000074 1/13006 0/8600 1/4406
1 c.771G>C r.(?) p.(Lys257Asn) g.122843188G>C Copied from the Exome Variant Server PDIA5_000075 2/13006 2/8600 0/4406
1 c.773+14G>A r.(=) p.(=) g.122843204G>A Copied from the Exome Variant Server PDIA5_000076 346/13006 3/8600 343/4406
1 c.773+22C>T r.(=) p.(=) g.122843212C>T Copied from the Exome Variant Server PDIA5_000077 6622/13006 5016/8600 1606/4406
1 c.773+26G>T r.(=) p.(=) g.122843216G>T Copied from the Exome Variant Server PDIA5_000078 1/13006 1/8600 0/4406
1 c.773+27G>A r.(=) p.(=) g.122843217G>A Copied from the Exome Variant Server PDIA5_000079 16/13006 16/8600 0/4406
1 c.773+45G>A r.(=) p.(=) g.122843235G>A Copied from the Exome Variant Server PDIA5_000080 2/13006 0/8600 2/4406
1 c.773+53T>C r.(=) p.(=) g.122843243T>C Copied from the Exome Variant Server PDIA5_000081 1/4566 1/3182 0/1384
1 c.774-38G>C r.(=) p.(=) g.122849289G>C Copied from the Exome Variant Server PDIA5_000082 76/13006 0/8600 76/4406
1 c.774-9G>A r.(=) p.(=) g.122849318G>A Copied from the Exome Variant Server PDIA5_000083 1/13006 0/8600 1/4406
1 c.777G>T r.(=) p.(=) g.122849330G>T Copied from the Exome Variant Server PDIA5_000084 1/13006 0/8600 1/4406
1 c.847G>A r.(?) p.(Asp283Asn) g.122849400G>A Copied from the Exome Variant Server PDIA5_000085 4/13006 0/8600 4/4406
1 c.867T>C r.(=) p.(=) g.122849420T>C Copied from the Exome Variant Server PDIA5_000086 1/13006 1/8600 0/4406
1 c.891C>T r.(=) p.(=) g.122849444C>T Copied from the Exome Variant Server PDIA5_000087 1/13006 1/8600 0/4406
1 c.896T>C r.(?) p.(Met299Thr) g.122849449T>C Copied from the Exome Variant Server PDIA5_000088 1/13006 0/8600 1/4406
1 c.907C>G r.(?) p.(Pro303Ala) g.122849460C>G Copied from the Exome Variant Server PDIA5_000089 11/13006 0/8600 11/4406
1 c.910+50T>C r.(=) p.(=) g.122849513T>C Copied from the Exome Variant Server PDIA5_000090 27/13006 0/8600 27/4406
1 c.911-63G>A r.(=) p.(=) g.122864306G>A Copied from the Exome Variant Server PDIA5_000091 3/4566 3/3182 0/1384
1 c.911-42C>T r.(=) p.(=) g.122864327C>T Copied from the Exome Variant Server PDIA5_000093 9/13006 0/8600 9/4406
1 c.939G>A r.(=) p.(=) g.122864397G>A Copied from the Exome Variant Server PDIA5_000094 4/13006 4/8600 0/4406
1 c.978G>A r.(=) p.(=) g.122864436G>A Copied from the Exome Variant Server PDIA5_000096 7719/13006 4697/8600 3022/4406
1 c.981+19C>T r.(=) p.(=) g.122864458C>T Copied from the Exome Variant Server PDIA5_000098 1/13006 0/8600 1/4406
1 c.981+26C>G r.(=) p.(=) g.122864465C>G Copied from the Exome Variant Server PDIA5_000100 1/13006 0/8600 1/4406
1 c.981+28G>A r.(=) p.(=) g.122864467G>A Copied from the Exome Variant Server PDIA5_000104 1/13006 0/8600 1/4406
1 c.981+36T>C r.(=) p.(=) g.122864475T>C Copied from the Exome Variant Server PDIA5_000107 50/13006 1/8600 49/4406
1 c.981+52A>G r.(=) p.(=) g.122864491A>G Copied from the Exome Variant Server PDIA5_000110 30/7272 0/4618 30/2654
1 c.982-44G>A r.(=) p.(=) g.122864902G>A Copied from the Exome Variant Server PDIA5_000112 1/13006 1/8600 0/4406
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