All variants affecting transcripts

359824 entries on 3599 pages. Showing entries 1 - 100.
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Gene

Transcript

Chr

Allele

DNA change (genomic) (hg38)

Reference

DB-ID

dbSNP ID

Frequency

Heterozygote

Homozygous

Owner

Effect

Exon

DNA change (cDNA)

RNA change

Protein
A1BG-AS1 NR_015380.2 19 Unknown g.58355067A>G - A1BG-AS1_000001 rs3830 0.5544 167 104 Admin ./. - n.2014A>G r.(?) -
A1BG-AS1 NR_015380.2 19 Unknown g.58353715A>T - A1BG-AS1_000002 rs893181 0.1221 61 11 Admin ./. - n.1173A>T - -
A1CF NM_014576.3 10 Unknown g.50824349C>T - A1CF_000001 rs10821871 0.7691 108 207 Admin ./. - c.770-3700G>A r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.50875479A>G - A1CF_000012 rs17591964 0.1632 91 10 Admin ./. - c.-94+10102T>C - -
A1CF NM_014576.3 10 Unknown g.50883418A>G - A1CF_000015 rs12244405 0.7750 125 200 Admin ./. - c.-94+2163T>C - -
A1CF NM_014576.3 10 Unknown g.50884061A>G - A1CF_000017 rs7901497 0.9750 17 322 Admin ./. - c.-94+1520T>C r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.50843481A>G - A1CF_000005 rs10821876 0.4706 167 76 Admin ./. - c.234+507T>C - -
A1CF NM_014576.3 10 Unknown g.50882739A>G - A1CF_000013 rs10994838 0.6868 142 162 Admin ./. - c.-94+2842T>C - -
A1CF NM_014576.3 10 Unknown g.50831939C>T - A1CF_000002 rs7093452 0.9544 21 313 Admin ./. - c.605-3644G>A - -
A1CF NM_014576.3 10 Unknown g.50873698A>G - A1CF_000011 rs4317935 0.7132 139 172 Admin ./. - c.-93-9618T>C - -
A1CF NM_014576.3 10 Unknown g.50883317C>T - A1CF_000014 rs7075575 0.2603 133 22 Admin ./. - c.-94+2264G>A - -
A1CF NM_014576.3 10 Unknown g.50883460A>G - A1CF_000016 rs6479769 0.7441 140 182 Admin ./. - c.-94+2121T>C - -
A1CF NM_014576.3 10 Unknown g.50884323A>G - A1CF_000018 rs4304713 0.0279 19 0 Admin ./. - c.-94+1258T>C - -
A1CF NM_014576.3 10 Unknown g.50848011C>T - A1CF_000006 rs12243360 0.0309 21 0 Admin ./. - c.100-3889G>A - -
A1CF NM_014576.3 10 Unknown g.50818351A>T - A1CF_000020 rs12783029 0.2235 118 17 Admin ./. - c.868-2072T>A - -
A1CF NM_014576.3 10 Unknown g.50867811G>T - A1CF_000009 rs17500631 0.2618 82 48 Admin ./. - c.-93-3731C>A r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.50818977C>T - A1CF_000021 rs11815391 0.7324 121 188 Admin ./. - c.867+1575G>A - -
A1CF NM_014576.3 10 Unknown g.50836379C>G - A1CF_000003 rs12245431 0.0485 19 7 Admin ./. - c.366-67G>C - -
A1CF NM_014576.3 10 Unknown g.50852901C>T - A1CF_000007 rs12769066 0.2824 134 29 Admin ./. - c.99+6941G>A r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.50870424C>T - A1CF_000010 rs12768916 0.3603 148 48 Admin ./. - c.-93-6344G>A - -
A1CF NM_014576.3 10 Unknown g.50866012A>G - A1CF_000008 rs12266425 0.0147 4 3 Admin ./. - c.-93-1932T>C r.(=) p.(=)
A1CF NM_014576.3 10 Unknown g.50807214A>C - A1CF_000019 rs4382847 0.1765 89 15 Admin ./. - c.1610-334T>G - -
A1CF NM_014576.3 10 Unknown g.50837870A>G - A1CF_000004 rs4488147 0.9647 19 318 Admin ./. - c.366-1558T>C - -
A2M NM_000014.4 12 Unknown g.9093757A>T - A2M_000001 rs226406 0.1985 109 13 Admin ./. - c.2126-178T>A - -
A2M NM_000014.4 12 Unknown g.9090026A>T - A2M_000010 rs11609582 0.1265 78 4 Admin ./. - c.2597-3T>A - -
A2M NM_000014.4 12 Unknown g.9074387C>T - A2M_000016 rs16917975 0.0794 30 12 Admin ./. - c.3756+173G>A r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9074364A>G - A2M_000015 rs1805661 0.5618 142 120 Admin ./. - c.3756+196T>C - -
A2M NM_000014.4 12 Unknown g.9108648A>G - A2M_000007 rs226387 0.5221 161 96 Admin ./. - c.758+673T>C - -
A2M NM_000014.4 12 Unknown g.9092604C>G - A2M_000011 rs226408 0.4956 171 82 Admin ./. - c.2240+861G>C - -
A2M NM_000014.4 12 Unknown g.9071356C>T - A2M_000013 rs1805663 0.3044 155 25 Admin ./. - c.4104-778G>A r.(=) p.(=)
A2M NM_000014.4 12 Unknown g.9074461A>T - A2M_000017 rs1805660 0.3353 152 37 Admin ./. - c.3756+99T>A - -
A2M NM_000014.4 12 Unknown g.9102863C>T - A2M_000004 rs7980288 0.9809 5 330 Admin ./. - c.1267-1189G>A - -
A2M NM_000014.4 12 Unknown g.9112349A>C - A2M_000008 rs226383 0.4647 176 69 Admin ./. - c.430+28T>G - -
A2M NM_000014.4 12 Unknown g.9079041A>G - A2M_000018 rs1805651 0.3029 148 28 Admin ./. - c.3119+203T>C - -
A2M NM_000014.4 12 Unknown g.9082620C>T - A2M_000019 rs10743598 0.5015 165 88 Admin ./. - c.2771-2443G>A - -
A2M NM_000014.4 12 Unknown g.9102642A>C - A2M_000002 rs7980046 0.0176 8 2 Admin ./. - c.1267-968T>G - -
A2M NM_000014.4 12 Unknown g.9070645G>T - A2M_000012 rs16917971 0.8706 72 259 Admin ./. - c.4104-67C>A - -
A2M NM_000014.4 12 Unknown g.9107310A>G - A2M_000006 rs226389 0.4956 167 84 Admin ./. - c.879+214T>C - -
A2M NM_000014.4 12 Unknown g.9073653A>G - A2M_000014 rs1805684 0.8765 60 267 Admin ./. - c.3757-782T>C - -
A2M NM_000014.4 12 Unknown g.9086637A>G - A2M_000020 rs226415 0.5412 172 98 Admin ./. - c.2770+2563T>C - -
A2M NM_000014.4 12 Unknown g.9113199G>T - A2M_000009 rs2477 0.0662 39 3 Admin ./. - c.270+161C>A - -
A2M NM_000014.4 12 Unknown g.9102725C>T - A2M_000003 rs11833184 0.0750 23 14 Admin ./. - c.1267-1051G>A - -
A2M NM_000014.4 12 Unknown g.9106224A>G - A2M_000005 rs12427063 0.3250 145 38 Admin ./. - c.1104+12T>C r.(=) p.(=)
A2M-AS1 NR_026971.1 12 Unknown g.9066009A>C - A2M-AS1_000001 rs10771309 0.6456 151 144 Admin ./. - n.236A>C - -
A2ML1 NM_144670.4 12 Unknown g.8836948G>T - A2ML1_000011 rs2377599 0.9221 33 296 Admin ./. - c.729-492G>T - -
A2ML1 NM_144670.4 12 Unknown g.8849120C>T - A2ML1_000013 rs7978604 0.8382 94 237 Admin ./. - c.2028+206C>T r.(=) p.(=)
A2ML1 NM_144670.4 12 Unknown g.8829259A>G - A2ML1_000006 rs4883182 0.8544 83 248 Admin ./. - c.410-468A>G - -
A2ML1 NM_144670.4 12 Unknown g.8858915G>T - A2ML1_000017 rs7488933 0.4662 179 68 Admin ./. - c.3264+813G>T r.(=) p.(=)
A2ML1 NM_144670.4 12 Unknown g.8842926C>G - A2ML1_000027 rs7137125 0.4618 178 67 Admin ./. - c.1249-208C>G - -
A2ML1 NM_144670.4 12 Unknown g.8881029A>G - A2ML1_000026 rs4883195 0.8265 66 247 Admin ./. - c.*4973A>G - -
A2ML1 NM_144670.4 12 Unknown g.8843159C>T - A2ML1_000029 rs7308106 0.9162 49 286 Admin ./. - c.1274C>T - -
A2ML1 NM_144670.4 12 Unknown g.8860732A>G - A2ML1_000018 rs17802465 0.8706 66 262 Admin ./. - c.3265-149A>G r.(=) p.(=)
A2ML1 NM_144670.4 12 Unknown g.8829048C>G - A2ML1_000005 rs4883181 0.7868 113 210 Admin ./. - c.410-679C>G - -
A2ML1 NM_144670.4 12 Unknown g.8861158C>T - A2ML1_000019 rs1860967 0.3868 147 57 Admin ./. - c.3363C>T - -
A2ML1 NM_144670.4 12 Unknown g.8826063A>G - A2ML1_000004 rs7314013 0.9853 10 329 Admin ./. - c.409+2181A>G - -
A2ML1 NM_144670.4 12 Unknown g.8866880C>T - A2ML1_000021 rs17729753 0.1485 85 8 Admin ./. - c.3718-962C>T - -
A2ML1 NM_144670.4 12 Unknown g.8856445C>T - A2ML1_000016 rs11047617 0.9691 15 321 Admin ./. - c.2849-719C>T - -
A2ML1 NM_144670.4 12 Unknown g.8833782C>T - A2ML1_000009 rs10842366 0.4515 169 69 Admin ./. - c.463-880C>T - -
A2ML1 NM_144670.4 12 Unknown g.8836912C>T - A2ML1_000010 rs11612855 0.7206 144 172 Admin ./. - c.729-528C>T - -
A2ML1 NM_144670.4 12 Unknown g.8837319A>G - A2ML1_000012 rs11047510 0.8279 89 236 Admin ./. - c.729-121A>G - -
A2ML1 NM_144670.4 12 Unknown g.8871095A>C - A2ML1_000025 rs4883193 0.7441 124 191 Admin ./. - c.4221+1892A>C - -
A2ML1 NM_144670.4 12 Unknown g.8855328A>G - A2ML1_000014 rs12318927 0.9882 4 333 Admin ./. - c.2765-181A>G - -
A2ML1 NM_144670.4 12 Unknown g.8868315A>G - A2ML1_000023 rs1476910 0.7691 121 200 Admin ./. - c.4019A>G r.(?) p.(Gln1340Arg)
A2ML1 NM_144670.4 12 Unknown g.8848517A>G - A2ML1_000030 rs7138661 0.9838 9 329 Admin ./. - c.1834-203A>G - -
A2ML1 NM_144670.4 12 Unknown g.8824183C>T - A2ML1_000003 rs11047443 0.3897 152 56 Admin ./. - c.409+301C>T r.(=) p.(=)
A2ML1 NM_144670.4 12 Unknown g.8823304C>T - A2ML1_000001 rs17792974 0.0412 21 3 Admin ./. - c.185C>T r.(?) p.(Thr62Ile)
A2ML1 NM_144670.4 12 Unknown g.8864068C>G - A2ML1_000020 rs17802489 0.8691 65 262 Admin ./. - c.3717+60C>G - -
A2ML1 NM_144670.4 12 Unknown g.8842190C>T - A2ML1_000031 rs7954245 0.6309 153 138 Admin ./. - c.1248+654C>T r.(=) p.(=)
A2ML1 NM_144670.4 12 Unknown g.8829332G>T - A2ML1_000007 rs4883183 0.1559 98 4 Admin ./. - c.410-395G>T r.(=) p.(=)
A2ML1 NM_144670.4 12 Unknown g.8842121A>G - A2ML1_000033 rs4883189 0.3118 124 43 Admin ./. - c.1248+585A>G - -
A2ML1 NM_144670.4 12 Unknown g.8824167A>G - A2ML1_000002 rs10842349 0.8162 98 228 Admin ./. - c.409+285A>G r.(=) p.(=)
A2ML1 NM_144670.4 12 Unknown g.8830769A>G - A2ML1_000008 rs12319997 0.8956 55 276 Admin ./. - c.462+990A>G - -
A2ML1 NM_144670.4 12 Unknown g.8868659A>G - A2ML1_000024 rs12816475 0.5779 161 115 Admin ./. - c.4152+32A>G - -
A2ML1 NM_144670.4 12 Unknown g.8867731C>T - A2ML1_000022 rs7311897 0.6691 57 199 Admin ./. - c.3718-111C>T - -
A2ML1 NM_144670.4 12 Unknown g.8856012A>C - A2ML1_000015 rs2110079 0.0235 14 1 Admin ./. - c.2848+420A>C - -
A2ML1 NM_144670.4 12 Unknown g.8842541A>T - A2ML1_000032 rs1344455 0.6971 158 157 Admin ./. - c.1249-593A>T - -
A2ML1 NM_144670.4 12 Unknown g.8843097A>G - A2ML1_000028 rs7307991 0.2971 136 33 Admin ./. - c.1249-37A>G - -
A2MP1 NR_040112.1 12 Unknown g.9228657C>T - A2MP1_000001 rs7972426 0.7088 148 167 Admin ./. - n.1077G>A - -
A2MP1 NR_040112.1 12 Unknown g.9233613A>G - A2MP1_000002 rs7315222 0.0471 18 7 Admin ./. - n.153T>C - -
A3GALT2 NM_001080438.1 1 Unknown g.33311922A>G - A3GALT2_000001 rs6679416 0.6721 141 158 Admin ./. - c.335+130T>C - -
A4GALT NM_017436.4 22 Unknown g.42692428C>T - A4GALT_000001 rs135106 0.1279 53 17 Admin ./. - c.*462G>A - -
A4GALT NM_017436.4 22 Unknown g.42697136A>G - A4GALT_000004 rs130397 0.2353 104 28 Admin ./. - c.-187-1505T>C - -
A4GALT NM_017436.4 22 Unknown g.42696844A>C - A4GALT_000002 rs130396 0.3147 141 36 Admin ./. - c.-187-1213T>G - -
A4GALT NM_017436.4 22 Unknown g.42697589C>T - A4GALT_000005 rs135108 0.0971 58 4 Admin ./. - c.-187-1958G>A - -
A4GALT NM_017436.4 22 Unknown g.42701507A>G - A4GALT_000007 rs5758873 0.5471 121 125 Admin ./. - c.-187-5876T>C - -
A4GALT NM_017436.4 22 Unknown g.42698870C>T - A4GALT_000006 rs11090115 0.7000 129 173 Admin ./. - c.-187-3239G>A - -
A4GALT NM_017436.4 22 Unknown g.42702259A>G - A4GALT_000008 rs5996226 0.9662 13 321 Admin ./. - c.-187-6628T>C - -
A4GALT NM_017436.4 22 Unknown g.42696905A>G - A4GALT_000003 rs3761464 0.9162 50 286 Admin ./. - c.-187-1274T>C - -
A4GNT NM_016161.2 3 Unknown g.138132355C>T - A4GNT_000002 rs2724692 0.3162 141 37 Admin ./. - c.-170G>A - -
A4GNT NM_016161.2 3 Unknown g.138124263A>G - A4GNT_000001 rs2170309 0.7088 130 175 Admin ./. - c.*1T>C - -
AACS NM_023928.3 12 Unknown g.125105715C>T - AACS_000007 rs7953077 0.3353 147 40 Admin ./. - c.768-1406C>T - -
AACS NM_023928.3 12 Unknown g.125112844A>T - AACS_000010 rs7954882 0.0206 14 0 Admin ./. - c.916-1633A>T - -
AACS NM_023928.3 12 Unknown g.125079816C>T - AACS_000022 rs7311951 0.1382 78 8 Admin ./. - c.358+3205C>T r.(=) p.(=)
AACS NM_023928.3 12 Unknown g.125143176G>T - AACS_000021 rs2297477 0.0309 7 7 Admin ./. - c.*947G>T - -
AACS NM_023928.3 12 Unknown g.125085650A>G - AACS_000024 rs10744193 0.0926 59 2 Admin ./. - c.359-680A>G r.(=) p.(=)
AACS NM_023928.3 12 Unknown g.125106703C>T - AACS_000009 rs2297479 0.0441 26 2 Admin ./. - c.768-418C>T - -
AACS NM_023928.3 12 Unknown g.125121340A>G - AACS_000013 rs12578446 0.2338 115 22 Admin ./. - c.1121+2575A>G - -
AACS NM_023928.3 12 Unknown g.125070915C>T - AACS_000005 rs879993 0.1353 84 4 Admin ./. - c.134-2961C>T - -
AACS NM_023928.3 12 Unknown g.125105870A>G - AACS_000008 rs7970937 0.5338 173 95 Admin ./. - c.768-1251A>G - -
AACS NM_023928.3 12 Unknown g.125070751C>T - AACS_000004 rs4765021 0.3647 173 37 Admin ./. - c.134-3125C>T - -
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