Unique variants in gene ERGIC3

Information The variants shown are described using the NM_015966.2 transcript reference sequence.

105 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.-39G>A r.(=) p.(=) g.34129808G>A Copied from the Exome Variant Server ERGIC3_000001 115/11356 1/7580 114/3776
1 c.-35_-34insG r.(=) p.(=) g.34129812_34129813insG Copied from the Exome Variant Server ERGIC3_000002 99/9756 66/6586 33/3170
1 c.-25G>A r.(=) p.(=) g.34129822G>A Copied from the Exome Variant Server ERGIC3_000003 1/12096 1/8040 0/4056
1 c.-21_-20insC r.(=) p.(=) g.34129826_34129827insC Copied from the Exome Variant Server ERGIC3_000004 46/11502 26/7618 20/3884
1 c.-10G>T r.(=) p.(=) g.34129837G>T Copied from the Exome Variant Server ERGIC3_000005 4/12600 1/8346 3/4254
1 c.-9C>T r.(=) p.(=) g.34129838C>T Copied from the Exome Variant Server ERGIC3_000006 4/12624 1/8362 3/4262
1 c.-5T>A r.(=) p.(=) g.34129842T>A Copied from the Exome Variant Server ERGIC3_000007 18/12714 0/8410 18/4304
1 c.24G>A r.(=) p.(=) g.34129870G>A Copied from the Exome Variant Server ERGIC3_000008 1/12936 1/8550 0/4386
1 c.25C>G r.(?) p.(Gln9Glu) g.34129871C>G Copied from the Exome Variant Server ERGIC3_000009 1/12936 1/8550 0/4386
1 c.88+32del r.(=) p.(=) g.34129966del Copied from the Exome Variant Server ERGIC3_000010 8/12480 5/8230 3/4250
1 c.88+37G>A r.(=) p.(=) g.34129971G>A Copied from the Exome Variant Server ERGIC3_000011 1/12998 1/8594 0/4404
1 c.89-32G>A r.(=) p.(=) g.34130040G>A Copied from the Exome Variant Server ERGIC3_000012 1/13006 1/8600 0/4406
1 c.136C>T r.(=) p.(=) g.34130119C>T Copied from the Exome Variant Server ERGIC3_000013 2/13006 0/8600 2/4406
1 c.159+47_159+48insT r.(=) p.(=) g.34130189_34130190insT Copied from the Exome Variant Server ERGIC3_000014 1/12518 0/8254 1/4264
1 c.160-25T>G r.(=) p.(=) g.34130237T>G Copied from the Exome Variant Server ERGIC3_000015 40/13006 38/8600 2/4406
1 c.160-11C>A r.(=) p.(=) g.34130251C>A Copied from the Exome Variant Server ERGIC3_000016 1/13006 1/8600 0/4406
1 c.160-9C>A r.(=) p.(=) g.34130253C>A Copied from the Exome Variant Server ERGIC3_000017 1/13006 1/8600 0/4406
1 c.160-6C>A r.(=) p.(=) g.34130256C>A Copied from the Exome Variant Server ERGIC3_000018 1/13006 1/8600 0/4406
1 c.174C>T r.(=) p.(=) g.34130276C>T Copied from the Exome Variant Server ERGIC3_000019 2/13006 2/8600 0/4406
1 c.188C>G r.(?) p.(Ser63Trp) g.34130290C>G Copied from the Exome Variant Server ERGIC3_000020 1/13006 1/8600 0/4406
1 c.189G>A r.(=) p.(=) g.34130291G>A Copied from the Exome Variant Server ERGIC3_000021 1/13006 1/8600 0/4406
1 c.231G>T r.(=) p.(=) g.34130333G>T Copied from the Exome Variant Server ERGIC3_000022 1/13006 1/8600 0/4406
1 c.247+22G>C r.(=) p.(=) g.34130371G>C Copied from the Exome Variant Server ERGIC3_000023 1/13006 1/8600 0/4406
1 c.247+25C>T r.(=) p.(=) g.34130374C>T Copied from the Exome Variant Server ERGIC3_000024 1/13006 0/8600 1/4406
1 c.247+46A>T r.(=) p.(=) g.34130395A>T Copied from the Exome Variant Server ERGIC3_000025 1/13006 1/8600 0/4406
1 c.247+48G>A r.(=) p.(=) g.34130397G>A Copied from the Exome Variant Server ERGIC3_000026 1/13006 1/8600 0/4406
1 c.248-25C>T r.(=) p.(=) g.34130546C>T Copied from the Exome Variant Server ERGIC3_000027 1/13006 1/8600 0/4406
1 c.262G>A r.(?) p.(Ala88Thr) g.34130585G>A Copied from the Exome Variant Server ERGIC3_000028 1/13006 1/8600 0/4406
1 c.268G>A r.(?) p.(Asp90Asn) g.34130591G>A Copied from the Exome Variant Server ERGIC3_000029 2/13006 0/8600 2/4406
1 c.367+6C>T r.(=) p.(=) g.34130696C>T Copied from the Exome Variant Server ERGIC3_000030 3/13006 2/8600 1/4406
1 c.367+38C>A r.(=) p.(=) g.34130728C>A Copied from the Exome Variant Server ERGIC3_000031 1/13006 1/8600 0/4406
1 c.367+50A>G r.(=) p.(=) g.34130740A>G Copied from the Exome Variant Server ERGIC3_000032 1/13006 0/8600 1/4406
1 c.368-14T>C r.(=) p.(=) g.34135149T>C Copied from the Exome Variant Server ERGIC3_000033 12/13006 0/8600 12/4406
1 c.368-12C>G r.(=) p.(=) g.34135151C>G Copied from the Exome Variant Server ERGIC3_000034 8/13006 8/8600 0/4406
1 c.368-5C>G r.spl? p.? g.34135158C>G Copied from the Exome Variant Server ERGIC3_000035 1/13006 0/8600 1/4406
1 c.370C>G r.(?) p.(Leu124Val) g.34135165C>G Copied from the Exome Variant Server ERGIC3_000036 1/13006 1/8600 0/4406
1 c.382G>A r.(?) p.(Glu128Lys) g.34135177G>A Copied from the Exome Variant Server ERGIC3_000037 1/13006 1/8600 0/4406
1 c.390G>A r.(=) p.(=) g.34135185G>A Copied from the Exome Variant Server ERGIC3_000038 1/13006 1/8600 0/4406
1 c.391G>A r.(?) p.(Val131Met) g.34135186G>A Copied from the Exome Variant Server ERGIC3_000039 1/13006 1/8600 0/4406
1 c.458T>C r.(?) p.(Ile153Thr) g.34135253T>C Copied from the Exome Variant Server ERGIC3_000040 15/13006 15/8600 0/4406
1 c.461+7_461+8insG r.(=) p.(=) g.34135263_34135264insG Copied from the Exome Variant Server ERGIC3_000041 14/12518 8/8254 6/4264
1 c.461+9G>T r.(=) p.(=) g.34135265G>T Copied from the Exome Variant Server ERGIC3_000042 53/13006 0/8600 53/4406
1 c.461+10G>T r.(=) p.(=) g.34135266G>T Copied from the Exome Variant Server ERGIC3_000043 187/13006 3/8600 184/4406
1 c.461+46_461+47insGTCA r.(=) p.(=) g.34135302_34135303insGTCA Copied from the Exome Variant Server ERGIC3_000044 2/12518 1/8254 1/4264
1 c.462-40T>A r.(=) p.(=) g.34136222T>A Copied from the Exome Variant Server ERGIC3_000045 186/13006 3/8600 183/4406
1 c.462-20C>T r.(=) p.(=) g.34136242C>T Copied from the Exome Variant Server ERGIC3_000046 2/13006 2/8600 0/4406
1 c.462-19G>A r.(=) p.(=) g.34136243G>A Copied from the Exome Variant Server ERGIC3_000047 1/13006 0/8600 1/4406
1 c.488G>A r.(?) p.(Arg163Gln) g.34136288G>A Copied from the Exome Variant Server ERGIC3_000048 1/13006 1/8600 0/4406
1 c.489G>A r.(=) p.(=) g.34136289G>A Copied from the Exome Variant Server ERGIC3_000049 9/13006 0/8600 9/4406
1 c.503G>A r.(?) p.(Arg168His) g.34136303G>A Copied from the Exome Variant Server ERGIC3_000050 2/13006 1/8600 1/4406
1 c.627+41G>C r.(=) p.(=) g.34136468G>C Copied from the Exome Variant Server ERGIC3_000051 36/13006 0/8600 36/4406
1 c.646T>C r.(?) p.(Phe216Leu) g.34136579T>C Copied from the Exome Variant Server ERGIC3_000052 1/13006 1/8600 0/4406
1 c.651C>G r.(=) p.(=) g.34136584C>G Copied from the Exome Variant Server ERGIC3_000053 1/13006 1/8600 0/4406
1 c.684C>T r.(=) p.(=) g.34136617C>T Copied from the Exome Variant Server ERGIC3_000054 1/13006 1/8600 0/4406
1 c.685+14A>G r.(=) p.(=) g.34136632A>G Copied from the Exome Variant Server ERGIC3_000055 1/13006 1/8600 0/4406
1 c.685+38G>T r.(=) p.(=) g.34136656G>T Copied from the Exome Variant Server ERGIC3_000056 1/13006 1/8600 0/4406
1 c.686-720G>A r.(=) p.(=) g.34142095G>A Copied from the Exome Variant Server ERGIC3_000057 3/13006 3/8600 0/4406
1 c.686-707T>G r.(=) p.(=) g.34142108T>G Copied from the Exome Variant Server ERGIC3_000058 1/13006 1/8600 0/4406
1 c.686-682C>A r.(=) p.(=) g.34142133C>A Copied from the Exome Variant Server ERGIC3_000059 1/13006 1/8600 0/4406
1 c.686-680T>C r.(=) p.(=) g.34142135T>C Copied from the Exome Variant Server ERGIC3_000060 3/13006 3/8600 0/4406
1 c.686-633G>A r.(=) p.(=) g.34142182G>A Copied from the Exome Variant Server ERGIC3_000061 1/13006 0/8600 1/4406
1 c.686-590del r.(=) p.(=) g.34142225del Copied from the Exome Variant Server ERGIC3_000062 381/12518 7/8254 374/4264
1 c.686-72G>A r.(=) p.(=) g.34142743G>A Copied from the Exome Variant Server ERGIC3_000063 145/4566 3/3182 142/1384
1 c.686-47C>T r.(=) p.(=) g.34142768C>T Copied from the Exome Variant Server ERGIC3_000064 3/13006 3/8600 0/4406
1 c.686-33G>A r.(=) p.(=) g.34142782G>A Copied from the Exome Variant Server ERGIC3_000065 14/13006 0/8600 14/4406
1 c.686-7C>T r.(=) p.(=) g.34142808C>T Copied from the Exome Variant Server ERGIC3_000066 1/13006 0/8600 1/4406
1 c.717C>T r.(=) p.(=) g.34142846C>T Copied from the Exome Variant Server ERGIC3_000067 2/13006 2/8600 0/4406
1 c.717+34G>T r.(=) p.(=) g.34142880G>T Copied from the Exome Variant Server ERGIC3_000068 5/13006 1/8600 4/4406
1 c.717+36G>A r.(=) p.(=) g.34142882G>A Copied from the Exome Variant Server ERGIC3_000069 1/13006 0/8600 1/4406
1 c.717+42G>A r.(=) p.(=) g.34142888G>A Copied from the Exome Variant Server ERGIC3_000070 1/13006 0/8600 1/4406
1 c.717+76A>G r.(=) p.(=) g.34142922A>G Copied from the Exome Variant Server ERGIC3_000071 3/4566 0/3182 3/1384
1 c.718-34G>A r.(=) p.(=) g.34143770G>A Copied from the Exome Variant Server ERGIC3_000072 1/13006 1/8600 0/4406
1 c.718-27A>G r.(=) p.(=) g.34143777A>G Copied from the Exome Variant Server ERGIC3_000073 1/13006 1/8600 0/4406
1 c.718-10T>G r.(=) p.(=) g.34143794T>G Copied from the Exome Variant Server ERGIC3_000074 1/13006 0/8600 1/4406
1 c.718-4A>G r.spl? p.? g.34143800A>G Copied from the Exome Variant Server ERGIC3_000075 397/13006 7/8600 390/4406
1 c.807G>A r.(=) p.(=) g.34143893G>A Copied from the Exome Variant Server ERGIC3_000076 1/13006 0/8600 1/4406
1 c.815-36C>T r.(=) p.(=) g.34143942C>T Copied from the Exome Variant Server ERGIC3_000077 11/13006 0/8600 11/4406
1 c.844G>C r.(?) p.(Val282Leu) g.34144007G>C Copied from the Exome Variant Server ERGIC3_000078 1/13006 0/8600 1/4406
1 c.846G>A r.(=) p.(=) g.34144009G>A Copied from the Exome Variant Server ERGIC3_000079 2/13006 0/8600 2/4406
1 c.879+35G>A r.(=) p.(=) g.34144077G>A Copied from the Exome Variant Server ERGIC3_000080 1/13006 1/8600 0/4406
1 c.879+61A>G r.(=) p.(=) g.34144103A>G Copied from the Exome Variant Server ERGIC3_000081 1/4566 1/3182 0/1384
1 c.879+65T>C r.(=) p.(=) g.34144107T>C Copied from the Exome Variant Server ERGIC3_000082 4549/4566 3165/3182 1384/1384
1 c.879+66G>A r.(=) p.(=) g.34144108G>A Copied from the Exome Variant Server ERGIC3_000083 37/4566 0/3182 37/1384
1 c.882A>G r.(=) p.(=) g.34144746A>G Copied from the Exome Variant Server ERGIC3_000084 1890/13006 714/8600 1176/4406
1 c.885G>A r.(=) p.(=) g.34144749G>A Copied from the Exome Variant Server ERGIC3_000085 396/13006 7/8600 389/4406
1 c.929A>G r.(?) p.(Asn310Ser) g.34144793A>G Copied from the Exome Variant Server ERGIC3_000086 3/13006 3/8600 0/4406
1 c.940G>A r.(?) p.(Gly314Ser) g.34144804G>A Copied from the Exome Variant Server ERGIC3_000087 1/13006 1/8600 0/4406
1 c.943G>A r.(?) p.(Asp315Asn) g.34144807G>A Copied from the Exome Variant Server ERGIC3_000088 1/13006 1/8600 0/4406
1 c.959G>C r.(?) p.(Gly320Ala) g.34144823G>C Copied from the Exome Variant Server ERGIC3_000089 1/13006 0/8600 1/4406
1 c.966C>T r.(=) p.(=) g.34144830C>T Copied from the Exome Variant Server ERGIC3_000090 2/13006 1/8600 1/4406
1 c.1004C>G r.(?) p.(Thr335Arg) g.34144868C>G Copied from the Exome Variant Server ERGIC3_000091 1/13006 1/8600 0/4406
1 c.1005G>T r.(=) p.(=) g.34144869G>T Copied from the Exome Variant Server ERGIC3_000092 1/13006 0/8600 1/4406
1 c.1016+14C>A r.(=) p.(=) g.34144894C>A Copied from the Exome Variant Server ERGIC3_000093 1/13006 0/8600 1/4406
1 c.1016+19C>T r.(=) p.(=) g.34144899C>T Copied from the Exome Variant Server ERGIC3_000094 1/13006 1/8600 0/4406
1 c.1016+28G>C r.(=) p.(=) g.34144908G>C Copied from the Exome Variant Server ERGIC3_000095 1/13006 0/8600 1/4406
1 c.1033_1034insT r.(?) p.(Thr346Aspfs*33) g.34144981_34144982insT Copied from the Exome Variant Server ERGIC3_000096 1/12518 0/8254 1/4264
1 c.1047C>T r.(=) p.(=) g.34144995C>T Copied from the Exome Variant Server ERGIC3_000097 1/13006 1/8600 0/4406
1 c.1055T>C r.(?) p.(Ile352Thr) g.34145003T>C Copied from the Exome Variant Server ERGIC3_000098 1/13006 1/8600 0/4406
1 c.1072+40G>A r.(=) p.(=) g.34145060G>A Copied from the Exome Variant Server ERGIC3_000099 175/13006 2/8600 173/4406
1 c.1073-39C>A r.(=) p.(=) g.34145157C>A Copied from the Exome Variant Server ERGIC3_000100 1/13006 1/8600 0/4406
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