Unique variants in gene ABCF1

Information The variants shown are described using the NM_001025091.1 transcript reference sequence.

140 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.-33G>A r.(=) p.(=) g.30539232G>A Copied from the Exome Variant Server ABCF1_000001 2/8332 0/5368 2/2964
1 c.-32G>A r.(=) p.(=) g.30539233G>A Copied from the Exome Variant Server ABCF1_000002 1/8332 1/5366 0/2966
1 c.13C>T r.(?) p.(Pro5Ser) g.30539277C>T Copied from the Exome Variant Server ABCF1_000003 1/8422 1/5414 0/3008
1 c.62C>T r.(?) p.(Thr21Met) g.30539326C>T Copied from the Exome Variant Server ABCF1_000004 2/8426 2/5412 0/3014
1 c.67C>G r.(?) p.(Pro23Ala) g.30539331C>G Copied from the Exome Variant Server ABCF1_000005 1/8430 1/5416 0/3014
1 c.73G>C r.(?) p.(Asp25His) g.30539337G>C Copied from the Exome Variant Server ABCF1_000006 1/8432 0/5418 1/3014
1 c.74-33A>G r.(=) p.(=) g.30545153A>G Copied from the Exome Variant Server ABCF1_000007 1/13006 1/8600 0/4406
1 c.74-24C>T r.(=) p.(=) g.30545162C>T Copied from the Exome Variant Server ABCF1_000008 13/13006 7/8600 6/4406
1 c.74-15C>T r.(=) p.(=) g.30545171C>T Copied from the Exome Variant Server ABCF1_000010 1/13006 1/8600 0/4406
1 c.74-4C>T r.spl? p.? g.30545182C>T Copied from the Exome Variant Server ABCF1_000013 1/13006 0/8600 1/4406
1 c.107A>G r.(?) p.(Lys36Arg) g.30545219A>G Copied from the Exome Variant Server ABCF1_000014 1/13006 1/8600 0/4406
1 c.119C>A r.(?) p.(Thr40Lys) g.30545231C>A Copied from the Exome Variant Server ABCF1_000016 1/13006 0/8600 1/4406
1 c.120+34_120+35del r.(=) p.(=) g.30545266_30545267del Copied from the Exome Variant Server ABCF1_000018 4/12518 3/8254 1/4264
1 c.120+55T>C r.(=) p.(=) g.30545287T>C Copied from the Exome Variant Server ABCF1_000020 1/4566 1/3182 0/1384
1 c.120+65T>C r.(=) p.(=) g.30545297T>C Copied from the Exome Variant Server ABCF1_000022 4/4566 2/3182 2/1384
1 c.188_193del r.(?) p.(Gln72_Gln73del) g.30545662_30545667del Copied from the Exome Variant Server ABCF1_000024 31/12350 19/8164 12/4186
1 c.216+36C>T r.(=) p.(=) g.30545726C>T Copied from the Exome Variant Server ABCF1_000026 1/8430 1/5416 0/3014
1 c.217-31C>T r.(=) p.(=) g.30545822C>T Copied from the Exome Variant Server ABCF1_000028 1/13004 1/8600 0/4404
1 c.218del r.(?) p.(Lys76Serfs*60) g.30545854del Copied from the Exome Variant Server ABCF1_000009 1039/12518 634/8254 405/4264
1 c.218dup r.(?) p.(Arg77Alafs*14) g.30545854dup Copied from the Exome Variant Server ABCF1_000030 171/12518 105/8254 66/4264
1 c.230G>A r.(?) p.(Arg77Gln) g.30545866G>A Copied from the Exome Variant Server ABCF1_000011 1/13006 1/8600 0/4406
1 c.237C>T r.(=) p.(=) g.30545873C>T Copied from the Exome Variant Server ABCF1_000012 1/13006 1/8600 0/4406
1 c.243A>G r.(=) p.(=) g.30545879A>G Copied from the Exome Variant Server ABCF1_000015 98/13006 90/8600 8/4406
1 c.271G>T r.(?) p.(Asp91Tyr) g.30545907G>T Copied from the Exome Variant Server ABCF1_000017 1/13006 0/8600 1/4406
1 c.274_276del r.(?) p.(Gly92del) g.30545910_30545912del Copied from the Exome Variant Server ABCF1_000019 4/12518 2/8254 2/4264
1 c.280G>A r.(?) p.(Glu94Lys) g.30545916G>A Copied from the Exome Variant Server ABCF1_000021 1/13006 0/8600 1/4406
1 c.343G>A r.(?) p.(Val115Ile) g.30545979G>A Copied from the Exome Variant Server ABCF1_000023 3/13006 0/8600 3/4406
1 c.344-44A>G r.(=) p.(=) g.30546081A>G Copied from the Exome Variant Server ABCF1_000025 13/8440 12/5418 1/3022
1 c.344-42T>C r.(=) p.(=) g.30546083T>C Copied from the Exome Variant Server ABCF1_000027 167/8440 53/5418 114/3022
1 c.344-16del r.(=) p.(=) g.30546109del Copied from the Exome Variant Server ABCF1_000029 28/12504 26/8244 2/4260
1 c.350C>A r.(?) p.(Ala117Asp) g.30546131C>A Copied from the Exome Variant Server ABCF1_000031 1/8440 0/5418 1/3022
1 c.362G>A r.(?) p.(Arg121His) g.30546143G>A Copied from the Exome Variant Server ABCF1_000032 1/8440 1/5418 0/3022
1 c.364G>A r.(?) p.(Gly122Arg) g.30546145G>A Copied from the Exome Variant Server ABCF1_000033 1/8440 1/5418 0/3022
1 c.382-36C>A r.(=) p.(=) g.30546211C>A Copied from the Exome Variant Server ABCF1_000034 1/13006 1/8600 0/4406
1 c.382-4C>G r.spl? p.? g.30546243C>G Copied from the Exome Variant Server ABCF1_000035 1/13006 1/8600 0/4406
1 c.467C>T r.(?) p.(Pro156Leu) g.30546332C>T Copied from the Exome Variant Server ABCF1_000036 1/13006 0/8600 1/4406
1 c.468G>A r.(=) p.(=) g.30546333G>A Copied from the Exome Variant Server ABCF1_000037 2/13006 2/8600 0/4406
1 c.489+15T>A r.(=) p.(=) g.30546369T>A Copied from the Exome Variant Server ABCF1_000038 2/13006 0/8600 2/4406
1 c.489+17G>A r.(=) p.(=) g.30546371G>A Copied from the Exome Variant Server ABCF1_000039 24/13006 1/8600 23/4406
1 c.489+30C>T r.(=) p.(=) g.30546384C>T Copied from the Exome Variant Server ABCF1_000040 1/13006 0/8600 1/4406
1 c.489+32C>T r.(=) p.(=) g.30546386C>T Copied from the Exome Variant Server ABCF1_000041 1/13006 1/8600 0/4406
1 c.489+41G>A r.(=) p.(=) g.30546395G>A Copied from the Exome Variant Server ABCF1_000042 132/13006 82/8600 50/4406
1 c.490-37_490-23del r.(=) p.(=) g.30547671_30547685del Copied from the Exome Variant Server ABCF1_000043 41/10316 12/6854 29/3462
1 c.490-20T>C r.(=) p.(=) g.30547688T>C Copied from the Exome Variant Server ABCF1_000044 1/8440 0/5418 1/3022
1 c.513T>C r.(=) p.(=) g.30547731T>C Copied from the Exome Variant Server ABCF1_000045 1/8440 0/5418 1/3022
1 c.564+17C>T r.(=) p.(=) g.30547799C>T Copied from the Exome Variant Server ABCF1_000046 1/8440 0/5418 1/3022
1 c.564+26G>A r.(=) p.(=) g.30547808G>A Copied from the Exome Variant Server ABCF1_000047 212/8440 19/5418 193/3022
1 c.592A>G r.(?) p.(Asn198Asp) g.30548210A>G Copied from the Exome Variant Server ABCF1_000048 159/8428 53/5414 106/3014
1 c.613G>A r.(?) p.(Glu205Lys) g.30548231G>A Copied from the Exome Variant Server ABCF1_000049 1/8430 0/5414 1/3016
1 c.653_655del r.(?) p.(Glu219del) g.30548271_30548273del Copied from the Exome Variant Server ABCF1_000050 3/9630 1/6332 2/3298
1 c.679-34G>A r.(=) p.(=) g.30550137G>A Copied from the Exome Variant Server ABCF1_000051 3/8420 2/5404 1/3016
1 c.679-13C>T r.(=) p.(=) g.30550158C>T Copied from the Exome Variant Server ABCF1_000052 6/8432 6/5414 0/3018
1 c.683C>T r.(?) p.(Ser228Leu) g.30550175C>T Copied from the Exome Variant Server ABCF1_000053 3/8440 0/5418 3/3022
1 c.724G>A r.(?) p.(Gly242Arg) g.30550216G>A Copied from the Exome Variant Server ABCF1_000054 1/8440 1/5418 0/3022
1 c.793-34G>A r.(=) p.(=) g.30550809G>A Copied from the Exome Variant Server ABCF1_000055 2/8432 2/5414 0/3018
1 c.805C>T r.(?) p.(Arg269Cys) g.30550855C>T Copied from the Exome Variant Server ABCF1_000056 1/8432 1/5414 0/3018
1 c.831C>T r.(=) p.(=) g.30550881C>T Copied from the Exome Variant Server ABCF1_000057 11/8434 1/5416 10/3018
1 c.855C>T r.(=) p.(=) g.30550905C>T Copied from the Exome Variant Server ABCF1_000058 2/8434 0/5416 2/3018
1 c.858G>T r.(=) p.(=) g.30550908G>T Copied from the Exome Variant Server ABCF1_000059 1/8434 1/5416 0/3018
1 c.864G>C r.(?) p.(Gln288His) g.30550914G>C Copied from the Exome Variant Server ABCF1_000060 1/8432 0/5416 1/3016
1 c.867G>A r.(=) p.(=) g.30550917G>A Copied from the Exome Variant Server ABCF1_000061 1/8434 0/5416 1/3018
1 c.915+26G>A r.(=) p.(=) g.30550991G>A Copied from the Exome Variant Server ABCF1_000062 1/8434 1/5414 0/3020
1 c.915+32T>C r.(=) p.(=) g.30550997T>C Copied from the Exome Variant Server ABCF1_000063 1/8434 1/5414 0/3020
1 c.916-45T>G r.(=) p.(=) g.30551340T>G Copied from the Exome Variant Server ABCF1_000064 1/13006 0/8600 1/4406
1 c.916-14C>G r.(=) p.(=) g.30551371C>G Copied from the Exome Variant Server ABCF1_000065 1/13006 0/8600 1/4406
1 c.957C>T r.(=) p.(=) g.30551426C>T Copied from the Exome Variant Server ABCF1_000066 143/13006 82/8600 61/4406
1 c.984C>T r.(=) p.(=) g.30551453C>T Copied from the Exome Variant Server ABCF1_000067 1/13006 0/8600 1/4406
1 c.996C>T r.(=) p.(=) g.30551465C>T Copied from the Exome Variant Server ABCF1_000068 2/13006 0/8600 2/4406
1 c.1016+22del r.(=) p.(=) g.30551507del Copied from the Exome Variant Server ABCF1_000069 1/12518 0/8254 1/4264
1 c.1016+46A>G r.(=) p.(=) g.30551531A>G Copied from the Exome Variant Server ABCF1_000070 1/13006 1/8600 0/4406
1 c.1017-24G>A r.(=) p.(=) g.30551558G>A Copied from the Exome Variant Server ABCF1_000071 3/8440 0/5418 3/3022
1 c.1017-15G>C r.(=) p.(=) g.30551567G>C Copied from the Exome Variant Server ABCF1_000072 1/8440 0/5418 1/3022
1 c.1038C>G r.(=) p.(=) g.30551603C>G Copied from the Exome Variant Server ABCF1_000073 6/8440 0/5418 6/3022
1 c.1102+26C>T r.(=) p.(=) g.30551693C>T Copied from the Exome Variant Server ABCF1_000074 2/8440 2/5418 0/3022
1 c.1102+27T>G r.(=) p.(=) g.30551694T>G Copied from the Exome Variant Server ABCF1_000075 13/8438 13/5418 0/3020
1 c.1103-45T>A r.(=) p.(=) g.30551924T>A Copied from the Exome Variant Server ABCF1_000076 3/8432 3/5414 0/3018
1 c.1103-28G>A r.(=) p.(=) g.30551941G>A Copied from the Exome Variant Server ABCF1_000077 1/8432 0/5414 1/3018
1 c.1184G>A r.(?) p.(Arg395Gln) g.30552050G>A Copied from the Exome Variant Server ABCF1_000078 1/8434 1/5416 0/3018
1 c.1187G>A r.(?) p.(Arg396Gln) g.30552053G>A Copied from the Exome Variant Server ABCF1_000079 43/8432 0/5416 43/3016
1 c.1242+26G>A N/A N/A g.30552134G>A Copied from the Exome Variant Server ABCF1_000080 1/8438 0/5416 1/3022
1 c.1243-8C>T N/A N/A g.30552187C>T Copied from the Exome Variant Server ABCF1_000081 21/8438 0/5418 21/3020
1 c.1263C>T r.(=) p.(=) g.30552215C>T Copied from the Exome Variant Server ABCF1_000082 1/8438 0/5418 1/3020
1 c.1359_1360del r.(?) p.(Gly455Leufs*22) g.30552311_30552312del Copied from the Exome Variant Server ABCF1_000083 1/10386 1/6934 0/3452
1 c.1365C>T r.(=) p.(=) g.30552317C>T Copied from the Exome Variant Server ABCF1_000084 3/8434 0/5416 3/3018
1 c.1391+4G>A r.spl? p.? g.30552347G>A Copied from the Exome Variant Server ABCF1_000085 1/8436 0/5418 1/3018
1 c.1391+14C>T r.(=) p.(=) g.30552357C>T Copied from the Exome Variant Server ABCF1_000086 1/8436 1/5418 0/3018
1 c.1392-52T>C r.(=) p.(=) g.30552985T>C Copied from the Exome Variant Server ABCF1_000087 1/5734 0/3982 1/1752
1 c.1392-27C>T r.(=) p.(=) g.30553010C>T Copied from the Exome Variant Server ABCF1_000089 1/8440 0/5418 1/3022
1 c.1392-18C>T r.(=) p.(=) g.30553019C>T Copied from the Exome Variant Server ABCF1_000091 22/8440 0/5418 22/3022
1 c.1392-6C>T r.(=) p.(=) g.30553031C>T Copied from the Exome Variant Server ABCF1_000093 1/8438 1/5418 0/3020
1 c.1475+9C>T r.(=) p.(=) g.30553129C>T Copied from the Exome Variant Server ABCF1_000095 1/8440 0/5418 1/3022
1 c.1475+39A>C r.(=) p.(=) g.30553159A>C Copied from the Exome Variant Server ABCF1_000097 1/8440 1/5418 0/3022
1 c.1476-33T>C r.(=) p.(=) g.30553302T>C Copied from the Exome Variant Server ABCF1_000099 1/8434 0/5416 1/3018
1 c.1494G>A r.(=) p.(=) g.30553353G>A Copied from the Exome Variant Server ABCF1_000101 1/8438 1/5418 0/3020
1 c.1510G>A r.(?) p.(Val504Ile) g.30553369G>A Copied from the Exome Variant Server ABCF1_000088 2/8438 2/5418 0/3020
1 c.1539T>G r.(?) p.(Asp513Glu) g.30553398T>G Copied from the Exome Variant Server ABCF1_000090 4/8440 0/5418 4/3022
1 c.1564G>A r.(?) p.(Asp522Asn) g.30553423G>A Copied from the Exome Variant Server ABCF1_000092 1/8440 1/5418 0/3022
1 c.1580A>G r.(?) p.(His527Arg) g.30553439A>G Copied from the Exome Variant Server ABCF1_000094 1/8440 1/5418 0/3022
1 c.1600+44G>A r.(=) p.(=) g.30553503G>A Copied from the Exome Variant Server ABCF1_000096 2/8438 0/5418 2/3020
1 c.1659G>A r.(=) p.(=) g.30553714G>A Copied from the Exome Variant Server ABCF1_000098 1/8438 0/5416 1/3022
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