All transcript variants in gene ERCC4

Information The variants shown are described using the NM_005236.2 transcript reference sequence.

168 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.4G>A r.(?) p.(Glu2Lys) g.14014026G>A Copied from the Exome Variant Server ERCC4_000001 1/12898 0/8536 1/4362
?/? c.8C>T r.(?) p.(Ser3Leu) g.14014030C>T Copied from the Exome Variant Server ERCC4_000002 2/12898 2/8528 0/4370
?/? c.9A>C r.(=) p.(=) g.14014031A>C Copied from the Exome Variant Server ERCC4_000003 2/12904 2/8532 0/4372
?/? c.16C>T r.(?) p.(Pro6Ser) g.14014038C>T Copied from the Exome Variant Server ERCC4_000004 12/12930 12/8554 0/4376
?/? c.33C>T r.(=) p.(=) g.14014055C>T Copied from the Exome Variant Server ERCC4_000005 220/12984 191/8594 29/4390
?/? c.37G>T r.(?) p.(Ala13Ser) g.14014059G>T Copied from the Exome Variant Server ERCC4_000006 2/12988 0/8594 2/4394
?/? c.43C>T r.(=) p.(=) g.14014065C>T Copied from the Exome Variant Server ERCC4_000007 1/12990 1/8596 0/4394
?/? c.49G>T r.(?) p.(Glu17*) g.14014071G>T Copied from the Exome Variant Server ERCC4_000008 1/12992 1/8598 0/4394
?/? c.63G>C r.(?) p.(Gln21His) g.14014085G>C Copied from the Exome Variant Server ERCC4_000009 1/12992 0/8598 1/4394
?/? c.83A>G r.(?) p.(Asp28Gly) g.14014105A>G Copied from the Exome Variant Server ERCC4_000010 1/12992 1/8598 0/4394
?/? c.109C>T r.(?) p.(Arg37Cys) g.14014131C>T Copied from the Exome Variant Server ERCC4_000011 1/12988 1/8596 0/4392
?/? c.207+10_207+11insGG r.(=) p.(=) g.14014239_14014240insGG Copied from the Exome Variant Server ERCC4_000012 22/12030 12/7952 10/4078
?/? c.207+11G>A r.(=) p.(=) g.14014240G>A Copied from the Exome Variant Server ERCC4_000013 2929/12660 2237/8398 692/4262
?/? c.207+12_207+13del r.(=) p.(=) g.14014241_14014242del Copied from the Exome Variant Server ERCC4_000014 20/12078 9/7990 11/4088
?/? c.207+13_207+14insC r.(=) p.(=) g.14014242_14014243insC Copied from the Exome Variant Server ERCC4_000015 24/12050 15/7972 9/4078
?/? c.207+49G>A r.(=) p.(=) g.14014278G>A Copied from the Exome Variant Server ERCC4_000016 672/12024 596/8004 76/4020
?/? c.208-39G>T r.(=) p.(=) g.14015849G>T Copied from the Exome Variant Server ERCC4_000017 1/12994 1/8600 0/4394
?/? c.211T>C r.(?) p.(Tyr71His) g.14015891T>C Copied from the Exome Variant Server ERCC4_000018 2/12994 0/8600 2/4394
?/? c.217A>G r.(?) p.(Ile73Val) g.14015897A>G Copied from the Exome Variant Server ERCC4_000019 4/12994 4/8600 0/4394
?/? c.228G>A r.(=) p.(=) g.14015908G>A Copied from the Exome Variant Server ERCC4_000020 1/12994 1/8600 0/4394
?/? c.241G>A r.(?) p.(Val81Ile) g.14015921G>A Copied from the Exome Variant Server ERCC4_000021 4/12994 0/8600 4/4394
?/? c.252C>T r.(=) p.(=) g.14015932C>T Copied from the Exome Variant Server ERCC4_000022 67/12994 64/8600 3/4394
?/? c.260G>A r.(?) p.(Arg87His) g.14015940G>A Copied from the Exome Variant Server ERCC4_000023 2/12994 2/8600 0/4394
?/? c.305C>A r.(?) p.(Thr102Lys) g.14015985C>A Copied from the Exome Variant Server ERCC4_000024 1/12994 0/8600 1/4394
?/? c.325G>A r.(?) p.(Ala109Thr) g.14016005G>A Copied from the Exome Variant Server ERCC4_000025 11/12994 0/8600 11/4394
?/? c.327G>A r.(=) p.(=) g.14016007G>A Copied from the Exome Variant Server ERCC4_000026 3/12994 0/8600 3/4394
?/? c.367A>G r.(?) p.(Ile123Val) g.14016047A>G Copied from the Exome Variant Server ERCC4_000027 1/12994 1/8600 0/4394
?/? c.388+42del r.(=) p.(=) g.14016110del Copied from the Exome Variant Server ERCC4_000029 889/12112 598/7996 291/4116
?/? c.388+42dup r.(=) p.(=) g.14016110dup Copied from the Exome Variant Server ERCC4_000028 299/12112 199/7996 100/4116
?/? c.389-48G>T r.(=) p.(=) g.14020370G>T Copied from the Exome Variant Server ERCC4_000030 1/12994 0/8600 1/4394
?/? c.389-36C>G r.(=) p.(=) g.14020382C>G Copied from the Exome Variant Server ERCC4_000031 419/12994 2/8600 417/4394
?/? c.389-32T>A r.(=) p.(=) g.14020386T>A Copied from the Exome Variant Server ERCC4_000032 1/12994 1/8600 0/4394
?/? c.389-9C>A r.(=) p.(=) g.14020409C>A Copied from the Exome Variant Server ERCC4_000033 1/12994 0/8600 1/4394
?/? c.426T>A r.(=) p.(=) g.14020455T>A Copied from the Exome Variant Server ERCC4_000034 1/12994 1/8600 0/4394
?/? c.447G>T r.(?) p.(Leu149Phe) g.14020476G>T Copied from the Exome Variant Server ERCC4_000035 1/12994 0/8600 1/4394
?/? c.448C>A r.(?) p.(Arg150Ser) g.14020477C>A Copied from the Exome Variant Server ERCC4_000036 1/12994 0/8600 1/4394
?/? c.449G>A r.(?) p.(Arg150His) g.14020478G>A Copied from the Exome Variant Server ERCC4_000037 1/12994 0/8600 1/4394
?/? c.471A>G r.(=) p.(=) g.14020500A>G Copied from the Exome Variant Server ERCC4_000038 4/12994 0/8600 4/4394
?/? c.503C>T r.(?) p.(Ala168Val) g.14020532C>T Copied from the Exome Variant Server ERCC4_000039 21/12994 1/8600 20/4394
?/? c.532G>T r.(?) p.(Val178Leu) g.14020561G>T Copied from the Exome Variant Server ERCC4_000040 2/12994 2/8600 0/4394
?/? c.537A>G r.(=) p.(=) g.14020566A>G Copied from the Exome Variant Server ERCC4_000041 1/12994 0/8600 1/4394
?/? c.574C>T r.(=) p.(=) g.14020603C>T Copied from the Exome Variant Server ERCC4_000042 1/12994 0/8600 1/4394
?/? c.578_583del r.(?) p.(Pro194_Arg195del) g.14020607_14020612del Copied from the Exome Variant Server ERCC4_000043 2/12516 2/8254 0/4262
?/? c.584+18A>G r.(=) p.(=) g.14020631A>G Copied from the Exome Variant Server ERCC4_000044 1/12992 1/8598 0/4394
?/? c.584+22A>G r.(=) p.(=) g.14020635A>G Copied from the Exome Variant Server ERCC4_000045 1/12992 1/8598 0/4394
?/? c.584+46_584+49del r.(=) p.(=) g.14020659_14020662del Copied from the Exome Variant Server ERCC4_000046 1/12514 1/8252 0/4262
?/? c.585-44T>C r.(=) p.(=) g.14021841T>C Copied from the Exome Variant Server ERCC4_000047 1/12990 1/8598 0/4392
?/? c.652A>G r.(?) p.(Met218Val) g.14021952A>G Copied from the Exome Variant Server ERCC4_000048 1/12994 1/8600 0/4394
?/? c.700A>C r.(?) p.(Asn234His) g.14022000A>C Copied from the Exome Variant Server ERCC4_000049 1/12994 1/8600 0/4394
?/? c.703G>A r.(?) p.(Ala235Thr) g.14022003G>A Copied from the Exome Variant Server ERCC4_000050 4/12994 4/8600 0/4394
?/? c.728A>G r.(?) p.(His243Arg) g.14022028A>G Copied from the Exome Variant Server ERCC4_000051 1/12994 0/8600 1/4394
?/? c.737C>T r.(?) p.(Ser246Leu) g.14022037C>T Copied from the Exome Variant Server ERCC4_000052 1/12994 1/8600 0/4394
?/? c.738G>A r.(=) p.(=) g.14022038G>A Copied from the Exome Variant Server ERCC4_000053 4/12994 1/8600 3/4394
?/? c.776G>A r.(?) p.(Gly259Glu) g.14022076G>A Copied from the Exome Variant Server ERCC4_000054 2/12994 2/8600 0/4394
?/? c.792+23C>T r.(=) p.(=) g.14022115C>T Copied from the Exome Variant Server ERCC4_000055 3/12994 3/8600 0/4394
?/? c.799C>T r.(?) p.(Arg267Cys) g.14024573C>T Copied from the Exome Variant Server ERCC4_000056 1/12994 1/8600 0/4394
?/? c.800G>T r.(?) p.(Arg267Leu) g.14024574G>T Copied from the Exome Variant Server ERCC4_000057 2/12994 1/8600 1/4394
?/? c.906T>C r.(=) p.(=) g.14024680T>C Copied from the Exome Variant Server ERCC4_000058 4/12994 4/8600 0/4394
?/? c.923A>T r.(?) p.(Asn308Ile) g.14024697A>T Copied from the Exome Variant Server ERCC4_000059 1/12994 0/8600 1/4394
?/? c.934T>G r.(?) p.(Ser312Ala) g.14024708T>G Copied from the Exome Variant Server ERCC4_000060 2/12994 2/8600 0/4394
?/? c.938T>C r.(?) p.(Leu313Pro) g.14024712T>C Copied from the Exome Variant Server ERCC4_000061 1/12994 1/8600 0/4394
?/? c.973+30A>C r.(=) p.(=) g.14024777A>C Copied from the Exome Variant Server ERCC4_000062 2/12972 0/8590 2/4382
?/? c.974-7G>A r.(=) p.(=) g.14026007G>A Copied from the Exome Variant Server ERCC4_000063 12794/12994 8419/8600 4375/4394
?/? c.974-6T>C r.(=) p.(=) g.14026008T>C Copied from the Exome Variant Server ERCC4_000064 10/12994 8/8600 2/4394
?/? c.1022C>G r.(?) p.(Ala341Gly) g.14026062C>G Copied from the Exome Variant Server ERCC4_000065 1/12992 0/8600 1/4392
?/? c.1031A>T r.(?) p.(Tyr344Phe) g.14026071A>T Copied from the Exome Variant Server ERCC4_000066 7/12992 0/8600 7/4392
?/? c.1102G>A r.(?) p.(Glu368Lys) g.14026142G>A Copied from the Exome Variant Server ERCC4_000067 2/12940 0/8580 2/4360
?/? c.1102+26A>G r.(=) p.(=) g.14026168A>G Copied from the Exome Variant Server ERCC4_000068 1/12904 1/8564 0/4340
?/? c.1102+41C>T r.(=) p.(=) g.14026183C>T Copied from the Exome Variant Server ERCC4_000069 2/12858 2/8538 0/4320
?/? c.1102+45A>G r.(=) p.(=) g.14026187A>G Copied from the Exome Variant Server ERCC4_000070 32/12840 32/8530 0/4310
?/? c.1123C>T r.(=) p.(=) g.14028069C>T Copied from the Exome Variant Server ERCC4_000071 2/12994 0/8600 2/4394
?/? c.1135C>T r.(?) p.(Pro379Ser) g.14028081C>T Copied from the Exome Variant Server ERCC4_000072 57/12994 50/8600 7/4394
?/? c.1201C>T r.(?) p.(Leu401Phe) g.14028147C>T Copied from the Exome Variant Server ERCC4_000073 1/12994 1/8600 0/4394
?/? c.1214-50T>C r.(=) p.(=) g.14028953T>C Copied from the Exome Variant Server ERCC4_000074 2/12994 1/8600 1/4394
?/? c.1243C>T r.(?) p.(Arg415*) g.14029032C>T Copied from the Exome Variant Server ERCC4_000075 1/12994 1/8600 0/4394
?/? c.1244G>A r.(?) p.(Arg415Gln) g.14029033G>A Copied from the Exome Variant Server ERCC4_000076 712/12994 658/8600 54/4394
?/? c.1268A>G r.(?) p.(Tyr423Cys) g.14029057A>G Copied from the Exome Variant Server ERCC4_000077 1/12994 0/8600 1/4394
?/? c.1269T>C r.(=) p.(=) g.14029058T>C Copied from the Exome Variant Server ERCC4_000078 1/12994 0/8600 1/4394
?/? c.1284G>A r.(=) p.(=) g.14029073G>A Copied from the Exome Variant Server ERCC4_000079 2/12994 0/8600 2/4394
?/? c.1297T>C r.(=) p.(=) g.14029086T>C Copied from the Exome Variant Server ERCC4_000080 4/12994 0/8600 4/4394
?/? c.1318T>G r.(?) p.(Phe440Val) g.14029107T>G Copied from the Exome Variant Server ERCC4_000081 1/12994 1/8600 0/4394
?/? c.1398C>G r.(?) p.(His466Gln) g.14029187C>G Copied from the Exome Variant Server ERCC4_000082 1/12994 0/8600 1/4394
?/? c.1412_1413insC r.(?) p.(Gln473Profs*30) g.14029201_14029202insC Copied from the Exome Variant Server ERCC4_000083 1/12518 1/8254 0/4264
?/? c.1429C>T r.(?) p.(Arg477Trp) g.14029218C>T Copied from the Exome Variant Server ERCC4_000084 1/12994 1/8600 0/4394
?/? c.1446A>G r.(=) p.(=) g.14029235A>G Copied from the Exome Variant Server ERCC4_000085 54/12992 0/8598 54/4394
?/? c.1488A>T r.(?) p.(Gln496His) g.14029277A>T Copied from the Exome Variant Server ERCC4_000086 38/12994 0/8600 38/4394
?/? c.1492G>T r.(?) p.(Val498Leu) g.14029281G>T Copied from the Exome Variant Server ERCC4_000087 2/12994 0/8600 2/4394
?/? c.1493T>C r.(?) p.(Val498Ala) g.14029282T>C Copied from the Exome Variant Server ERCC4_000088 1/12994 1/8600 0/4394
?/? c.1501C>G r.(?) p.(Pro501Ala) g.14029290C>G Copied from the Exome Variant Server ERCC4_000089 1/12994 1/8600 0/4394
?/? c.1539A>G r.(=) p.(=) g.14029328A>G Copied from the Exome Variant Server ERCC4_000090 1/12994 1/8600 0/4394
?/? c.1549G>A r.(?) p.(Glu517Lys) g.14029338G>A Copied from the Exome Variant Server ERCC4_000091 1/12994 1/8600 0/4394
?/? c.1563C>G r.(?) p.(Ser521Arg) g.14029352C>G Copied from the Exome Variant Server ERCC4_000092 4/12994 4/8600 0/4394
?/? c.1577C>T r.(?) p.(Pro526Leu) g.14029366C>T Copied from the Exome Variant Server ERCC4_000093 1/12994 1/8600 0/4394
?/? c.1606G>C r.(?) p.(Val536Leu) g.14029395G>C Copied from the Exome Variant Server ERCC4_000094 5/12994 0/8600 5/4394
?/? c.1619C>T r.(?) p.(Ser540Leu) g.14029408C>T Copied from the Exome Variant Server ERCC4_000095 1/12994 1/8600 0/4394
?/? c.1648C>T r.(?) p.(Pro550Ser) g.14029437C>T Copied from the Exome Variant Server ERCC4_000098 1/12994 1/8600 0/4394
?/? c.1676G>A r.(?) p.(Gly559Asp) g.14029465G>A Copied from the Exome Variant Server ERCC4_000096 1/12994 1/8600 0/4394
?/? c.1727G>C r.(?) p.(Arg576Thr) g.14029516G>C Copied from the Exome Variant Server ERCC4_000097 11/12994 9/8600 2/4394
?/? c.1740T>G r.(=) p.(=) g.14029529T>G Copied from the Exome Variant Server ERCC4_000099 1/12994 0/8600 1/4394
?/? c.1758C>G r.(=) p.(=) g.14029547C>G Copied from the Exome Variant Server ERCC4_000100 1/12994 1/8600 0/4394
Legend   « First ‹ Prev     1 2     Next › Last »