All transcript variants in gene ABCA4

Information The variants shown are described using the NM_000350.2 transcript reference sequence.

100 entries on 1 page. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. - c.66+1528T>C - - g.94119452A>G - ABCA4_000051 rs4147798 0.7515 131 189 Admin
./. - c.66+1729T>C - - g.94119251A>G - ABCA4_000083 rs11800866 0.0324 16 3 Admin
./. - c.66+2078G>A - - g.94118902C>T - ABCA4_000082 rs4147799 0.6456 151 143 Admin
./. - c.66+3324C>A r.(=) p.(=) g.94117656G>T - ABCA4_000081 rs3789449 0.0926 41 11 Admin
./. - c.67-3282T>C - - g.94116348A>G - ABCA4_000080 rs7535005 0.6985 110 182 Admin
./. - c.67-2833G>C - - g.94115899C>G - ABCA4_000079 rs3789442 0.2382 114 24 Admin
./. - c.67-803T>C r.(=) p.(=) g.94113869A>G - ABCA4_000078 rs3789439 0.2412 116 24 Admin
./. - c.67-430G>A r.(=) p.(=) g.94113496C>T - ABCA4_000077 rs4147807 0.7647 124 197 Admin
./. - c.161-646G>A - - g.94112225C>T - ABCA4_000099 rs12745358 0.2353 124 18 Admin
./. - c.161-326C>A - - g.94111905G>T - ABCA4_000098 rs3789438 0.1456 62 18 Admin
./. - c.161-287G>A r.(=) p.(=) g.94111866C>T - ABCA4_000097 rs1889404 0.2559 118 28 Admin
./. - c.302+102T>C r.(=) p.(=) g.94111336A>G - ABCA4_000096 rs2297635 0.7500 118 196 Admin
./. - c.302+635T>C - - g.94110803A>G - ABCA4_000095 rs3789435 0.5015 177 81 Admin
./. - c.303-658T>G r.(=) p.(=) g.94109374A>C - ABCA4_000094 rs4147813 0.9632 19 317 Admin
./. - c.303-535G>A r.(=) p.(=) g.94109251C>T - ABCA4_000093 rs4147815 0.2691 119 32 Admin
./. - c.303-507G>A r.(=) p.(=) g.94109223C>T - ABCA4_000092 rs4147816 0.3265 155 33 Admin
./. - c.442+1088G>A - - g.94107489C>T - ABCA4_000091 rs3789431 0.3206 139 39 Admin
./. - c.442+1864G>C - - g.94106713C>G - ABCA4_000090 rs1191236 0.2853 104 45 Admin
./. - c.443-1519G>A - - g.94104661C>T - ABCA4_000089 rs570926 0.6485 156 142 Admin
./. - c.443-1490G>C - - g.94104632C>G - ABCA4_000088 rs3789427 0.1044 56 7 Admin
./. - c.443-805G>A - - g.94103947C>T - ABCA4_000087 rs4147819 0.0824 45 5 Admin
./. - c.768+2862G>A - - g.94095932C>T - ABCA4_000086 rs4147822 0.4912 159 87 Admin
./. - c.768+3079T>G r.(=) p.(=) g.94095715A>C - ABCA4_000050 rs4147823 0.3809 149 55 Admin
./. - c.768+3413G>A r.(=) p.(=) g.94095381C>T - ABCA4_000049 rs4147825 0.3412 145 43 Admin
./. - c.769-7069T>C - - g.94090510A>G - ABCA4_000048 rs17393248 0.2529 130 21 Admin
./. - c.769-5356T>C r.(=) p.(=) g.94088797A>G - ABCA4_000047 rs1209169 0.2618 122 28 Admin
./. - c.769-3316T>C - - g.94086757A>G - ABCA4_000046 rs12079685 0.0265 8 5 Admin
./. - c.769-2712G>A - - g.94086153C>T - ABCA4_000045 rs515263 0.7382 136 182 Admin
./. - c.769-2452C>A - - g.94085893G>T - ABCA4_000044 rs17461953 0.7676 125 198 Admin
./. - c.769-1698G>C - - g.94085139C>G - ABCA4_000043 rs545542 0.7603 129 193 Admin
./. - c.769-1557G>A r.(=) p.(=) g.94084998C>T - ABCA4_000042 rs546550 0.7618 126 195 Admin
./. - c.1100-142G>A r.(=) p.(=) g.94079603C>T - ABCA4_000041 rs2275035 0.2765 130 28 Admin
./. - c.1554+477C>A - - g.94077213G>T - ABCA4_000040 rs3120133 0.8897 63 270 Admin
./. - c.1554+1398G>A - - g.94076292C>T - ABCA4_000039 rs17111003 0.9265 32 298 Admin
./. - c.1554+3178G>C - - g.94074512C>G - ABCA4_000038 rs4847274 0.4985 190 74 Admin
./. - c.1554+3948T>C r.(=) p.(=) g.94073742A>G - ABCA4_000037 rs556353 0.2926 125 37 Admin
./. - c.1554+5605C>A r.(=) p.(=) g.94072085G>T - ABCA4_000036 rs12759306 0.1985 103 16 Admin
./. - c.1554+5687G>C - - g.94072003C>G - ABCA4_000035 rs2151848 0.4603 170 71 Admin
./. - c.1554+5750G>C - - g.94071940C>G - ABCA4_000034 rs12077009 0.9824 8 329 Admin
./. - c.1554+6017G>A - - g.94071673C>T - ABCA4_000033 rs17110991 0.0368 17 4 Admin
./. - c.1555-6067T>A - - g.94069384A>T - ABCA4_000032 rs17110985 0.0353 14 5 Admin
./. - c.1555-5480T>C - - g.94068797A>G - ABCA4_000031 rs549114 0.7279 126 184 Admin
./. - c.1555-869G>A - - g.94064186C>T - ABCA4_000030 rs4847273 0.6118 172 122 Admin
./. - c.2160+471G>A - - g.94060066C>T - ABCA4_000029 rs521538 0.2721 133 26 Admin
./. - c.2161-734G>A - - g.94057556C>T - ABCA4_000028 rs497511 0.4544 173 68 Admin
./. - c.2744-243G>A - - g.94047336C>T - ABCA4_000027 rs544830 0.4353 158 69 Admin
./. - c.2919-506T>A - - g.94045250A>T - ABCA4_000026 rs17110929 0.7574 119 197 Admin
./. - c.2919-372T>G - - g.94045116A>C - ABCA4_000085 rs2297633 0.7441 128 188 Admin
./. - c.3051-194T>G - - g.94043669A>C - ABCA4_000084 rs4147839 0.6647 134 159 Admin
./. - c.3051-13T>A - - g.94043488A>T - ABCA4_000076 rs17110922 0.0176 12 0 Admin
./. - c.3328+126T>A r.(=) p.(=) g.94042635A>T - ABCA4_000075 rs6675679 0.0147 10 0 Admin
./. - c.3523-507T>G - - g.94040634A>C - ABCA4_000074 rs6703052 0.8971 60 274 Admin
./. - c.3608-290C>A - - g.94037640G>T - ABCA4_000073 rs1889548 0.3706 126 63 Admin
./. - c.3608-276T>C - - g.94037626A>G - ABCA4_000072 rs12087003 0.0853 36 11 Admin
./. - c.3862+498T>C - - g.94036242A>G - ABCA4_000071 rs1320502 0.5529 168 103 Admin
./. - c.4128+157T>C r.(=) p.(=) g.94031621A>G - ABCA4_000070 rs4147841 0.4721 151 84 Admin
./. - c.4128+202T>C r.(=) p.(=) g.94031576A>G - ABCA4_000069 rs7543524 0.8971 54 277 Admin
./. - c.4284G>A r.(=) p.(=) g.94030496C>T - ABCA4_000068 rs1800549 0.0176 12 0 Admin
./. - c.4352+169G>A r.(=) p.(=) g.94030259C>T - ABCA4_000067 rs4147843 0.4779 145 89 Admin
./. - c.4353-299G>A - - g.94029930C>T - ABCA4_000066 rs4147844 0.4221 145 71 Admin
./. - c.4353-219T>C - - g.94029850A>G - ABCA4_000065 rs4147846 0.5735 160 114 Admin
./. - c.4539+857G>C r.(=) p.(=) g.94028588C>G - ABCA4_000064 rs17110894 0.9632 23 315 Admin
./. - c.4540-863T>C - - g.94025911A>G - ABCA4_000063 rs11165065 0.7338 113 192 Admin
./. - c.4635-578C>A r.(=) p.(=) g.94023996G>T - ABCA4_000025 rs1889407 0.5132 149 100 Admin
./. - c.4667+545G>A - - g.94022841C>T - ABCA4_000024 rs17110878 0.9426 21 309 Admin
./. - c.4667+617T>A - - g.94022769A>T - ABCA4_000023 rs2282229 0.1074 41 16 Admin
./. - c.4773+49G>A - - g.94021797C>T - ABCA4_000022 rs472908 0.5471 162 105 Admin
./. - c.5018+130T>G - - g.94021110A>C - ABCA4_000021 rs933073 0.1162 61 9 Admin
./. - c.5018+210T>G - - g.94021030A>C - ABCA4_000020 rs4147848 0.7309 133 181 Admin
./. - c.5018+391G>A - - g.94020849C>T - ABCA4_000019 rs10493867 0.7588 118 198 Admin
./. - c.5018+442T>C r.(=) p.(=) g.94020798A>G - ABCA4_000018 rs17110858 0.2500 110 30 Admin
./. - c.5196+434T>C - - g.94019148A>G - ABCA4_000017 rs6681968 0.5647 138 123 Admin
./. - c.5197-966G>A - - g.94016820C>T - ABCA4_000016 rs11806129 0.8294 66 248 Admin
./. - c.5197-493G>A - - g.94016347C>T - ABCA4_000015 rs915200 0.1191 67 7 Admin
./. - c.5312+228G>A r.(=) p.(=) g.94015511C>T - ABCA4_000014 rs914958 0.7368 121 189 Admin
./. - c.5313-523G>A - - g.94015213C>T - ABCA4_000013 rs4147849 0.9471 20 311 Admin
./. - c.5313-282C>A r.(=) p.(=) g.94014972G>T - ABCA4_000012 rs3818778 0.4838 155 86 Admin
./. - c.5460+63T>C - - g.94014480A>G - ABCA4_000011 rs2275033 0.6250 155 134 Admin
./. - c.5460+762G>A - - g.94013781C>T - ABCA4_000010 rs3789391 0.0588 32 4 Admin
./. - c.5460+1505G>A r.(=) p.(=) g.94013038C>T - ABCA4_000009 rs12082181 0.9162 41 290 Admin
./. - c.5460+1527T>C - - g.94013016A>G - ABCA4_000008 rs567370 0.4044 121 77 Admin
./. - c.5460+1538G>C - - g.94013005C>G - ABCA4_000007 rs487906 0.9088 60 278 Admin
./. - c.5460+1562C>A - - g.94012981G>T - ABCA4_000006 rs4147853 0.1632 89 11 Admin
./. - c.5461-1351T>C - - g.94012736A>G - ABCA4_000005 rs12085639 0.8426 91 240 Admin
./. - c.5461-993G>A - - g.94012378C>T - ABCA4_000004 rs17391542 0.1147 58 10 Admin
./. - c.5461-951T>C - - g.94012336A>G - ABCA4_000003 rs945067 0.7294 124 185 Admin
./. - c.5461-707G>C - - g.94012092C>G - ABCA4_000002 rs11165063 0.7941 42 248 Admin
./. - c.6005+949T>C r.(=) p.(=) g.94006685A>G - ABCA4_000001 rs6541409 0.9794 14 325 Admin
./. - c.6006-84G>A - - g.94005666C>T - ABCA4_000062 rs2275028 0.1162 55 12 Admin
./. - c.6147+572T>A - - g.94004869A>T - ABCA4_000061 rs10874829 0.0574 29 5 Admin
./. - c.6147+749G>A - - g.94004692C>T - ABCA4_000060 rs11165061 0.9324 36 298 Admin
./. - c.6148-388G>A - - g.94002380C>T - ABCA4_000059 rs17110776 0.0294 16 2 Admin
./. - c.6282+177T>C - - g.94001681A>G - ABCA4_000058 rs4147864 0.8971 58 275 Admin
./. - c.6479+327G>C r.(=) p.(=) g.94000509C>G - ABCA4_000057 rs4147868 0.8632 67 259 Admin
./. - c.6479+716G>A r.(=) p.(=) g.94000120C>T - ABCA4_000056 rs4147869 0.1279 57 15 Admin
./. - c.6530T>C - - g.93998060A>G - ABCA4_000055 - - - - Admin
./. - c.6729+313G>A r.(=) p.(=) g.93997548C>T - ABCA4_000054 rs17110743 0.1074 59 7 Admin
./. - c.6729+649G>A r.(=) p.(=) g.93997212C>T - ABCA4_000053 rs17110736 0.1235 68 8 Admin
./. - c.6817-201T>A - - g.93993443A>T - ABCA4_000052 rs17110718 0.9574 21 314 Admin
./. - c.*373T>C - - g.93992864A>G - ABCA4_000100 rs3747961 0.0721 43 3 Admin
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