Unique variants in gene ERCC5

Information The variants shown are described using the NM_000123.3 transcript reference sequence.

211 entries on 3 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.-55_-53del r.(=) p.(=) g.103498562_103498564del Copied from the Exome Variant Server ERCC5_000001 7/12380 4/8178 3/4202
1 c.-23C>T r.(=) p.(=) g.103498594C>T Copied from the Exome Variant Server ERCC5_000002 1/13002 1/8596 0/4406
1 c.56C>T r.(?) p.(Pro19Leu) g.103498672C>T Copied from the Exome Variant Server ERCC5_000003 8/13006 8/8600 0/4406
1 c.88+20del r.(=) p.(=) g.103498724del Copied from the Exome Variant Server ERCC5_000004 2/12516 1/8252 1/4264
1 c.88+2872C>T r.(=) p.(=) g.103501576C>T Copied from the Exome Variant Server ERCC5_000005 2/5734 0/3982 2/1752
1 c.89-2765G>A r.(=) p.(=) g.103501703G>A Copied from the Exome Variant Server ERCC5_000006 5/5734 0/3982 5/1752
1 c.89-2645G>A r.(=) p.(=) g.103501823G>A Copied from the Exome Variant Server ERCC5_000007 1/5734 0/3982 1/1752
1 c.89-48G>A r.(=) p.(=) g.103504420G>A Copied from the Exome Variant Server ERCC5_000008 7/13006 7/8600 0/4406
1 c.89-30C>T r.(=) p.(=) g.103504438C>T Copied from the Exome Variant Server ERCC5_000009 11/13006 0/8600 11/4406
1 c.89-24T>C r.(=) p.(=) g.103504444T>C Copied from the Exome Variant Server ERCC5_000010 1/13006 0/8600 1/4406
1 c.102G>T r.(?) p.(Trp34Cys) g.103504481G>T Copied from the Exome Variant Server ERCC5_000011 1/13006 1/8600 0/4406
1 c.134G>A r.(?) p.(Arg45His) g.103504513G>A Copied from the Exome Variant Server ERCC5_000012 5/13006 0/8600 5/4406
1 c.138T>C r.(=) p.(=) g.103504517T>C Copied from the Exome Variant Server ERCC5_000013 7957/13006 5045/8600 2912/4406
1 c.154A>G r.(?) p.(Asn52Asp) g.103504533A>G Copied from the Exome Variant Server ERCC5_000014 1/13006 1/8600 0/4406
1 c.264+7G>A r.(=) p.(=) g.103504650G>A Copied from the Exome Variant Server ERCC5_000015 968/13006 13/8600 955/4406
1 c.264+34T>G r.(=) p.(=) g.103504677T>G Copied from the Exome Variant Server ERCC5_000016 1/13006 1/8600 0/4406
1 c.265-35C>G r.(=) p.(=) g.103506072C>G Copied from the Exome Variant Server ERCC5_000017 1/13006 0/8600 1/4406
1 c.285G>A r.(=) p.(=) g.103506127G>A Copied from the Exome Variant Server ERCC5_000018 2/13006 2/8600 0/4406
1 c.293C>A r.(?) p.(Ala98Glu) g.103506135C>A Copied from the Exome Variant Server ERCC5_000019 1/13006 1/8600 0/4406
1 c.303C>G r.(?) p.(Asp101Glu) g.103506145C>G Copied from the Exome Variant Server ERCC5_000020 1/13006 1/8600 0/4406
1 c.312A>G r.(=) p.(=) g.103506154A>G Copied from the Exome Variant Server ERCC5_000021 3/13006 3/8600 0/4406
1 c.316A>G r.(?) p.(Thr106Ala) g.103506158A>G Copied from the Exome Variant Server ERCC5_000022 1/13006 0/8600 1/4406
1 c.378A>G r.(=) p.(=) g.103506220A>G Copied from the Exome Variant Server ERCC5_000023 1/13006 0/8600 1/4406
1 c.381-9A>G r.(=) p.(=) g.103506629A>G Copied from the Exome Variant Server ERCC5_000024 1/13006 1/8600 0/4406
1 c.392T>C r.(?) p.(Leu131Pro) g.103506649T>C Copied from the Exome Variant Server ERCC5_000025 1/13006 0/8600 1/4406
1 c.423C>T r.(=) p.(=) g.103506680C>T Copied from the Exome Variant Server ERCC5_000026 1/13006 0/8600 1/4406
1 c.429C>G r.(=) p.(=) g.103506686C>G Copied from the Exome Variant Server ERCC5_000027 329/13006 7/8600 322/4406
1 c.433G>A r.(?) p.(Val145Ile) g.103506690G>A Copied from the Exome Variant Server ERCC5_000028 91/13006 0/8600 91/4406
1 c.467+4A>T r.spl? p.? g.103506728A>T Copied from the Exome Variant Server ERCC5_000029 1/13006 0/8600 1/4406
1 c.467+46_467+56del r.(=) p.(=) g.103506770_103506780del Copied from the Exome Variant Server ERCC5_000030 5/12514 0/8252 5/4262
1 c.468-29G>C r.(=) p.(=) g.103508373G>C Copied from the Exome Variant Server ERCC5_000031 1/13006 1/8600 0/4406
1 c.468-26A>G r.(=) p.(=) g.103508376A>G Copied from the Exome Variant Server ERCC5_000032 1/13006 1/8600 0/4406
1 c.468-25T>C r.(=) p.(=) g.103508377T>C Copied from the Exome Variant Server ERCC5_000033 2/13006 2/8600 0/4406
1 c.468-23G>C r.(=) p.(=) g.103508379G>C Copied from the Exome Variant Server ERCC5_000034 3/13006 3/8600 0/4406
1 c.492A>G r.(=) p.(=) g.103508426A>G Copied from the Exome Variant Server ERCC5_000035 1/13006 1/8600 0/4406
1 c.510T>C r.(=) p.(=) g.103508444T>C Copied from the Exome Variant Server ERCC5_000036 1/13006 1/8600 0/4406
1 c.528+41_528+42insTCA r.(=) p.(=) g.103508503_103508504insTCA Copied from the Exome Variant Server ERCC5_000037 55/12510 1/8250 54/4260
1 c.529-14T>C r.(=) p.(=) g.103510611T>C Copied from the Exome Variant Server ERCC5_000038 1/13006 1/8600 0/4406
1 c.529-3C>T r.spl? p.? g.103510622C>T Copied from the Exome Variant Server ERCC5_000039 2/13006 1/8600 1/4406
1 c.542A>G r.(?) p.(His181Arg) g.103510638A>G Copied from the Exome Variant Server ERCC5_000040 4/13006 3/8600 1/4406
1 c.554C>T r.(?) p.(Ala185Val) g.103510650C>T Copied from the Exome Variant Server ERCC5_000041 2/13006 2/8600 0/4406
1 c.555G>A r.(=) p.(=) g.103510651G>A Copied from the Exome Variant Server ERCC5_000042 1/13006 0/8600 1/4406
1 c.576C>T r.(=) p.(=) g.103510672C>T Copied from the Exome Variant Server ERCC5_000043 1/13006 0/8600 1/4406
1 c.592C>G r.(?) p.(Pro198Ala) g.103510688C>G Copied from the Exome Variant Server ERCC5_000044 3/13006 3/8600 0/4406
1 c.640C>T r.(?) p.(Arg214Cys) g.103510736C>T Copied from the Exome Variant Server ERCC5_000045 4/13006 1/8600 3/4406
1 c.641G>A r.(?) p.(Arg214His) g.103510737G>A Copied from the Exome Variant Server ERCC5_000046 36/13006 0/8600 36/4406
1 c.666G>A r.(?) p.(Met222Ile) g.103510762G>A Copied from the Exome Variant Server ERCC5_000047 3/13006 0/8600 3/4406
1 c.672+22T>G r.(=) p.(=) g.103510790T>G Copied from the Exome Variant Server ERCC5_000048 2/13006 2/8600 0/4406
1 c.672+23C>T r.(=) p.(=) g.103510791C>T Copied from the Exome Variant Server ERCC5_000049 1/13006 1/8600 0/4406
1 c.673-45T>C r.(=) p.(=) g.103513812T>C Copied from the Exome Variant Server ERCC5_000050 1/12946 0/8580 1/4366
1 c.673-34A>G r.(=) p.(=) g.103513823A>G Copied from the Exome Variant Server ERCC5_000051 21/12984 0/8588 21/4396
1 c.673-24_673-21del r.(=) p.(=) g.103513833_103513836del Copied from the Exome Variant Server ERCC5_000052 12/12512 0/8250 12/4262
1 c.716A>T r.(?) p.(Lys239Ile) g.103513900A>T Copied from the Exome Variant Server ERCC5_000053 1/13006 0/8600 1/4406
1 c.725A>G r.(?) p.(Tyr242Cys) g.103513909A>G Copied from the Exome Variant Server ERCC5_000054 2/13006 0/8600 2/4406
1 c.760A>G r.(?) p.(Met254Val) g.103513944A>G Copied from the Exome Variant Server ERCC5_000055 348/13006 309/8600 39/4406
1 c.767A>G r.(?) p.(Gln256Arg) g.103513951A>G Copied from the Exome Variant Server ERCC5_000056 338/13006 18/8600 320/4406
1 c.772C>T r.(?) p.(His258Tyr) g.103513956C>T Copied from the Exome Variant Server ERCC5_000057 1/13006 1/8600 0/4406
1 c.788G>A r.(?) p.(Arg263Gln) g.103513972G>A Copied from the Exome Variant Server ERCC5_000058 5/13006 5/8600 0/4406
1 c.825G>A r.(=) p.(=) g.103514009G>A Copied from the Exome Variant Server ERCC5_000059 1/13006 1/8600 0/4406
1 c.826G>A r.(?) p.(Val276Ile) g.103514010G>A Copied from the Exome Variant Server ERCC5_000060 1/13006 0/8600 1/4406
1 c.880+20A>G r.(=) p.(=) g.103514084A>G Copied from the Exome Variant Server ERCC5_000061 3/13004 2/8600 1/4404
1 c.880+27T>C r.(=) p.(=) g.103514091T>C Copied from the Exome Variant Server ERCC5_000062 12972/13002 8600/8600 4372/4402
1 c.881-48G>A r.(=) p.(=) g.103514332G>A Copied from the Exome Variant Server ERCC5_000063 1/13002 0/8598 1/4404
1 c.881-43A>G r.(=) p.(=) g.103514337A>G Copied from the Exome Variant Server ERCC5_000064 1/13002 1/8598 0/4404
1 c.881-30A>G r.(=) p.(=) g.103514350A>G Copied from the Exome Variant Server ERCC5_000065 42/13002 4/8598 38/4404
1 c.932C>G r.(?) p.(Ser311Cys) g.103514431C>G Copied from the Exome Variant Server ERCC5_000066 5/13006 0/8600 5/4406
1 c.945C>T r.(=) p.(=) g.103514444C>T Copied from the Exome Variant Server ERCC5_000067 68/13006 61/8600 7/4406
1 c.960C>T r.(=) p.(=) g.103514459C>T Copied from the Exome Variant Server ERCC5_000068 127/13006 121/8600 6/4406
1 c.971C>T r.(?) p.(Ser324Phe) g.103514470C>T Copied from the Exome Variant Server ERCC5_000069 1/13006 1/8600 0/4406
1 c.1024C>A r.(?) p.(Pro342Thr) g.103514523C>A Copied from the Exome Variant Server ERCC5_000070 1/13006 0/8600 1/4406
1 c.1030A>G r.(?) p.(Thr344Ala) g.103514529A>G Copied from the Exome Variant Server ERCC5_000071 5/13006 5/8600 0/4406
1 c.1077G>A r.(=) p.(=) g.103514576G>A Copied from the Exome Variant Server ERCC5_000072 1/13006 1/8600 0/4406
1 c.1109G>A r.(?) p.(Arg370His) g.103514608G>A Copied from the Exome Variant Server ERCC5_000073 1/13006 1/8600 0/4406
1 c.1110T>A r.(=) p.(=) g.103514609T>A Copied from the Exome Variant Server ERCC5_000074 9/13006 8/8600 1/4406
1 c.1114_1117del r.(?) p.(Arg372Thrfs*6) g.103514613_103514616del Copied from the Exome Variant Server ERCC5_000075 1/12518 1/8254 0/4264
1 c.1119C>T r.(=) p.(=) g.103514618C>T Copied from the Exome Variant Server ERCC5_000076 2/13006 1/8600 1/4406
1 c.1127C>T r.(?) p.(Ala376Val) g.103514626C>T Copied from the Exome Variant Server ERCC5_000077 8/13006 0/8600 8/4406
1 c.1157G>T r.(?) p.(Arg386Leu) g.103514656G>T Copied from the Exome Variant Server ERCC5_000078 1/13006 1/8600 0/4406
1 c.1194C>T r.(=) p.(=) g.103514693C>T Copied from the Exome Variant Server ERCC5_000079 1/13006 0/8600 1/4406
1 c.1216G>C r.(?) p.(Gly406Arg) g.103514715G>C Copied from the Exome Variant Server ERCC5_000080 1/13006 1/8600 0/4406
1 c.1257G>T r.(?) p.(Met419Ile) g.103514756G>T Copied from the Exome Variant Server ERCC5_000081 1/13006 0/8600 1/4406
1 c.1259G>A r.(?) p.(Arg420His) g.103514758G>A Copied from the Exome Variant Server ERCC5_000082 11/13006 0/8600 11/4406
1 c.1287T>C r.(=) p.(=) g.103514786T>C Copied from the Exome Variant Server ERCC5_000084 19/13006 18/8600 1/4406
1 c.1317A>T r.(=) p.(=) g.103514816A>T Copied from the Exome Variant Server ERCC5_000086 1/13006 1/8600 0/4406
1 c.1323G>A r.(=) p.(=) g.103514822G>A Copied from the Exome Variant Server ERCC5_000083 1/13006 0/8600 1/4406
1 c.1328C>G r.(?) p.(Thr443Ser) g.103514827C>G Copied from the Exome Variant Server ERCC5_000085 9/13006 0/8600 9/4406
1 c.1372G>A r.(?) p.(Val458Ile) g.103514871G>A Copied from the Exome Variant Server ERCC5_000087 1/13006 1/8600 0/4406
1 c.1379G>C r.(?) p.(Ser460Thr) g.103514878G>C Copied from the Exome Variant Server ERCC5_000088 1/13006 1/8600 0/4406
1 c.1440C>T r.(=) p.(=) g.103514939C>T Copied from the Exome Variant Server ERCC5_000089 508/13006 13/8600 495/4406
1 c.1474T>G r.(?) p.(Ser492Ala) g.103514973T>G Copied from the Exome Variant Server ERCC5_000090 1/13006 0/8600 1/4406
1 c.1498C>T r.(?) p.(Arg500Trp) g.103514997C>T Copied from the Exome Variant Server ERCC5_000091 1/13006 1/8600 0/4406
1 c.1499G>A r.(?) p.(Arg500Gln) g.103514998G>A Copied from the Exome Variant Server ERCC5_000092 1/13006 1/8600 0/4406
1 c.1522G>T r.(?) p.(Val508Phe) g.103515021G>T Copied from the Exome Variant Server ERCC5_000093 2/13006 2/8600 0/4406
1 c.1530T>C r.(=) p.(=) g.103515029T>C Copied from the Exome Variant Server ERCC5_000094 1/13006 0/8600 1/4406
1 c.1536C>T r.(=) p.(=) g.103515035C>T Copied from the Exome Variant Server ERCC5_000095 7/13006 0/8600 7/4406
1 c.1560G>A r.(=) p.(=) g.103515059G>A Copied from the Exome Variant Server ERCC5_000096 1/13006 0/8600 1/4406
1 c.1586G>C r.(?) p.(Cys529Ser) g.103515085G>C Copied from the Exome Variant Server ERCC5_000097 562/13006 371/8600 191/4406
1 c.1587T>C r.(=) p.(=) g.103515086T>C Copied from the Exome Variant Server ERCC5_000098 1/13006 1/8600 0/4406
1 c.1641C>T r.(=) p.(=) g.103515140C>T Copied from the Exome Variant Server ERCC5_000099 3/13006 3/8600 0/4406
1 c.1669G>A r.(?) p.(Asp557Asn) g.103515168G>A Copied from the Exome Variant Server ERCC5_000100 1/13006 0/8600 1/4406
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