Full data view for gene ABCC1

Information The variants shown are described using the NM_004996.3 transcript reference sequence.

364 entries on 4 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.49-31G>C r.(=) p.(=) g.16101642G>C Copied from the Exome Variant Server ABCC1_000001 1/12288 0/8316 1/3972 - - - - - - -
?/? c.49-20G>A r.(=) p.(=) g.16101653G>A Copied from the Exome Variant Server ABCC1_000002 8/12304 0/8332 8/3972 - - - - - - -
?/? c.49-5C>T r.spl? p.? g.16101668C>T Copied from the Exome Variant Server ABCC1_000003 3/12338 3/8338 0/4000 - - - - - - -
?/? c.81C>T r.(=) p.(=) g.16101705C>T Copied from the Exome Variant Server ABCC1_000004 7/12272 1/8314 6/3958 - - - - - - -
?/? c.169C>G r.(?) p.(Leu57Val) g.16101793C>G Copied from the Exome Variant Server ABCC1_000005 3/12102 3/8256 0/3846 - - - - - - -
?/? c.185G>A r.(?) p.(Arg62Gln) g.16101809G>A Copied from the Exome Variant Server ABCC1_000006 16/12076 0/8244 16/3832 - - - - - - -
?/? c.225+10_225+11insG r.(=) p.(=) g.16101859_16101860insG Copied from the Exome Variant Server ABCC1_000007 13/11494 13/7870 0/3624 - - - - - - -
?/? c.225+26G>A r.(=) p.(=) g.16101875G>A Copied from the Exome Variant Server ABCC1_000008 624/12026 568/8224 56/3802 - - - - - - -
?/? c.225+41G>A r.(=) p.(=) g.16101890G>A Copied from the Exome Variant Server ABCC1_000009 2/12096 2/8232 0/3864 - - - - - - -
?/? c.225+50C>T r.(=) p.(=) g.16101899C>T Copied from the Exome Variant Server ABCC1_000010 12/12080 3/8234 9/3846 - - - - - - -
?/? c.275C>T r.(?) p.(Ser92Phe) g.16103682C>T Copied from the Exome Variant Server ABCC1_000011 19/12048 0/8224 19/3824 - - - - - - -
?/? c.314T>G r.(?) p.(Val105Gly) g.16103721T>G Copied from the Exome Variant Server ABCC1_000012 1/12090 1/8244 0/3846 - - - - - - -
?/? c.352-35A>C r.(=) p.(=) g.16108313A>C Copied from the Exome Variant Server ABCC1_000013 3/12046 3/8242 0/3804 - - - - - - -
?/? c.352-19C>T r.(=) p.(=) g.16108329C>T Copied from the Exome Variant Server ABCC1_000014 4/12070 4/8264 0/3806 - - - - - - -
?/? c.393A>T r.(=) p.(=) g.16108389A>T Copied from the Exome Variant Server ABCC1_000015 1/12278 0/8356 1/3922 - - - - - - -
?/? c.397C>A r.(?) p.(Gln133Lys) g.16108393C>A Copied from the Exome Variant Server ABCC1_000016 1/12290 0/8360 1/3930 - - - - - - -
?/? c.417C>T r.(=) p.(=) g.16108413C>T Copied from the Exome Variant Server ABCC1_000017 1/12346 1/8360 0/3986 - - - - - - -
?/? c.484A>G r.(?) p.(Lys162Glu) g.16108480A>G Copied from the Exome Variant Server ABCC1_000018 2/12304 2/8328 0/3976 - - - - - - -
?/? c.489+33A>G r.(=) p.(=) g.16108518A>G Copied from the Exome Variant Server ABCC1_000019 1/12362 1/8358 0/4004 - - - - - - -
?/? c.489+42G>A r.(=) p.(=) g.16108527G>A Copied from the Exome Variant Server ABCC1_000020 1/12350 1/8344 0/4006 - - - - - - -
?/? c.543C>T r.(=) p.(=) g.16110406C>T Copied from the Exome Variant Server ABCC1_000021 2/12416 2/8376 0/4040 - - - - - - -
?/? c.572T>C r.(?) p.(Phe191Ser) g.16110435T>C Copied from the Exome Variant Server ABCC1_000022 1/12472 1/8396 0/4076 - - - - - - -
?/? c.586C>T r.(?) p.(Pro196Ser) g.16110449C>T Copied from the Exome Variant Server ABCC1_000023 1/12524 1/8408 0/4116 - - - - - - -
?/? c.609C>T r.(=) p.(=) g.16110472C>T Copied from the Exome Variant Server ABCC1_000024 1/12526 1/8404 0/4122 - - - - - - -
?/? c.615+25G>A r.(=) p.(=) g.16110503G>A Copied from the Exome Variant Server ABCC1_000025 1/12624 1/8436 0/4188 - - - - - - -
?/? c.615+29G>C r.(=) p.(=) g.16110507G>C Copied from the Exome Variant Server ABCC1_000026 62/12642 54/8436 8/4206 - - - - - - -
?/? c.615+31G>A r.(=) p.(=) g.16110509G>A Copied from the Exome Variant Server ABCC1_000027 4/12652 0/8440 4/4212 - - - - - - -
?/? c.615+48A>G r.(=) p.(=) g.16110526A>G Copied from the Exome Variant Server ABCC1_000028 9/12642 0/8450 9/4192 - - - - - - -
?/? c.615+50G>T r.(=) p.(=) g.16110528G>T Copied from the Exome Variant Server ABCC1_000029 1/12632 0/8444 1/4188 - - - - - - -
?/? c.616-42C>A r.(=) p.(=) g.16126924C>A Copied from the Exome Variant Server ABCC1_000030 3/12346 0/8364 3/3982 - - - - - - -
?/? c.616-12T>G r.(=) p.(=) g.16126954T>G Copied from the Exome Variant Server ABCC1_000031 1/12262 0/8334 1/3928 - - - - - - -
?/? c.644T>C r.(?) p.(Phe215Ser) g.16126994T>C Copied from the Exome Variant Server ABCC1_000032 1/12226 1/8326 0/3900 - - - - - - -
?/? c.646C>G r.(?) p.(Leu216Val) g.16126996C>G Copied from the Exome Variant Server ABCC1_000033 1/12226 1/8324 0/3902 - - - - - - -
?/? c.677+11_677+12insC r.(=) p.(=) g.16127038_16127039insC Copied from the Exome Variant Server ABCC1_000034 81/11680 0/7932 81/3748 - - - - - - -
?/? c.677+17C>T r.(=) p.(=) g.16127044C>T Copied from the Exome Variant Server ABCC1_000035 22/12202 19/8294 3/3908 - - - - - - -
?/? c.678-36_678-35del r.(=) p.(=) g.16130293_16130294del Copied from the Exome Variant Server ABCC1_000036 8/11778 4/7946 4/3832 - - - - - - -
?/? c.683T>C r.(?) p.(Ile228Thr) g.16130334T>C Copied from the Exome Variant Server ABCC1_000037 1/12118 1/8270 0/3848 - - - - - - -
?/? c.688C>T r.(?) p.(Arg230Trp) g.16130339C>T Copied from the Exome Variant Server ABCC1_000038 1/12074 1/8258 0/3816 - - - - - - -
?/? c.689G>A r.(?) p.(Arg230Gln) g.16130340G>A Copied from the Exome Variant Server ABCC1_000039 32/12062 0/8250 32/3812 - - - - - - -
?/? c.690G>A r.(=) p.(=) g.16130341G>A Copied from the Exome Variant Server ABCC1_000040 4/12068 4/8254 0/3814 - - - - - - -
?/? c.691G>T r.(?) p.(Gly231Cys) g.16130342G>T Copied from the Exome Variant Server ABCC1_000041 7/12072 6/8256 1/3816 - - - - - - -
?/? c.706C>T r.(=) p.(=) g.16130357C>T Copied from the Exome Variant Server ABCC1_000042 149/12042 15/8242 134/3800 - - - - - - -
?/? c.759C>T r.(=) p.(=) g.16130410C>T Copied from the Exome Variant Server ABCC1_000043 2/12278 1/8308 1/3970 - - - - - - -
?/? c.760G>A r.(?) p.(Val254Met) g.16130411G>A Copied from the Exome Variant Server ABCC1_000044 1/12292 1/8316 0/3976 - - - - - - -
?/? c.765T>C r.(=) p.(=) g.16130416T>C Copied from the Exome Variant Server ABCC1_000045 1/12284 1/8310 0/3974 - - - - - - -
?/? c.777G>A r.(=) p.(=) g.16130428G>A Copied from the Exome Variant Server ABCC1_000046 1/12308 0/8318 1/3990 - - - - - - -
?/? c.809+31G>T r.(=) p.(=) g.16130491G>T Copied from the Exome Variant Server ABCC1_000047 134/12454 121/8398 13/4056 - - - - - - -
?/? c.809+39C>T r.(=) p.(=) g.16130499C>T Copied from the Exome Variant Server ABCC1_000048 1/12428 0/8386 1/4042 - - - - - - -
?/? c.810-45C>T r.(=) p.(=) g.16138262C>T Copied from the Exome Variant Server ABCC1_000049 1/12232 0/8308 1/3924 - - - - - - -
?/? c.810-34G>A r.(=) p.(=) g.16138273G>A Copied from the Exome Variant Server ABCC1_000051 4/12152 0/8276 4/3876 - - - - - - -
?/? c.810-24C>T r.(=) p.(=) g.16138283C>T Copied from the Exome Variant Server ABCC1_000050 1/12184 1/8280 0/3904 - - - - - - -
?/? c.810-16C>T r.(=) p.(=) g.16138291C>T Copied from the Exome Variant Server ABCC1_000052 243/12210 2/8288 241/3922 - - - - - - -
?/? c.814C>T r.(?) p.(Pro272Ser) g.16138311C>T Copied from the Exome Variant Server ABCC1_000053 2/12270 2/8318 0/3952 - - - - - - -
?/? c.815C>T r.(?) p.(Pro272Leu) g.16138312C>T Copied from the Exome Variant Server ABCC1_000054 3/12268 0/8316 3/3952 - - - - - - -
?/? c.816G>A r.(=) p.(=) g.16138313G>A Copied from the Exome Variant Server ABCC1_000055 677/12274 486/8314 191/3960 - - - - - - -
?/? c.822G>A r.(=) p.(=) g.16138319G>A Copied from the Exome Variant Server ABCC1_000056 14/12316 1/8330 13/3986 - - - - - - -
?/? c.825T>C r.(=) p.(=) g.16138322T>C Copied from the Exome Variant Server ABCC1_000057 4936/12326 2451/8334 2485/3992 - - - - - - -
?/? c.854C>T r.(?) p.(Pro285Leu) g.16138351C>T Copied from the Exome Variant Server ABCC1_000058 15/12380 0/8364 15/4016 - - - - - - -
?/? c.861G>C r.(?) p.(Glu287Asp) g.16138358G>C Copied from the Exome Variant Server ABCC1_000059 1/12402 1/8362 0/4040 - - - - - - -
?/? c.870G>C r.(?) p.(Lys290Asn) g.16138367G>C Copied from the Exome Variant Server ABCC1_000060 1/12420 1/8372 0/4048 - - - - - - -
?/? c.878C>T r.(?) p.(Ala293Val) g.16138375C>T Copied from the Exome Variant Server ABCC1_000061 2/12438 0/8382 2/4056 - - - - - - -
?/? c.880A>C r.(?) p.(Asn294His) g.16138377A>C Copied from the Exome Variant Server ABCC1_000062 3/12456 2/8390 1/4066 - - - - - - -
?/? c.903C>T r.(=) p.(=) g.16138400C>T Copied from the Exome Variant Server ABCC1_000063 1/12488 1/8400 0/4088 - - - - - - -
?/? c.929A>T r.(?) p.(Asn310Ile) g.16138426A>T Copied from the Exome Variant Server ABCC1_000064 1/12432 1/8380 0/4052 - - - - - - -
?/? c.971A>G r.(?) p.(Tyr324Cys) g.16138468A>G Copied from the Exome Variant Server ABCC1_000065 1/12284 1/8330 0/3954 - - - - - - -
?/? c.986T>G r.(?) p.(Phe329Cys) g.16138483T>G Copied from the Exome Variant Server ABCC1_000066 2/12236 2/8308 0/3928 - - - - - - -
?/? c.1005C>T r.(=) p.(=) g.16138502C>T Copied from the Exome Variant Server ABCC1_000067 4/12202 4/8292 0/3910 - - - - - - -
?/? c.1022C>T r.(?) p.(Ser341Phe) g.16138519C>T Copied from the Exome Variant Server ABCC1_000068 2/12090 2/8264 0/3826 - - - - - - -
?/? c.1040+6_1040+7insC r.(=) p.(=) g.16138543_16138544insC Copied from the Exome Variant Server ABCC1_000069 3/11586 1/7898 2/3688 - - - - - - -
?/? c.1040+21G>T r.(=) p.(=) g.16138558G>T Copied from the Exome Variant Server ABCC1_000070 2/12048 0/8246 2/3802 - - - - - - -
?/? c.1041-43C>T r.(=) p.(=) g.16139650C>T Copied from the Exome Variant Server ABCC1_000071 4/12424 4/8376 0/4048 - - - - - - -
?/? c.1041-36C>T r.(=) p.(=) g.16139657C>T Copied from the Exome Variant Server ABCC1_000072 1/12452 0/8396 1/4056 - - - - - - -
?/? c.1062T>C r.(=) p.(=) g.16139714T>C Copied from the Exome Variant Server ABCC1_000073 5011/12576 2447/8432 2564/4144 - - - - - - -
?/? c.1067C>T r.(?) p.(Thr356Met) g.16139719C>T Copied from the Exome Variant Server ABCC1_000074 1/12578 1/8434 0/4144 - - - - - - -
?/? c.1068G>A r.(=) p.(=) g.16139720G>A Copied from the Exome Variant Server ABCC1_000075 351/12564 7/8430 344/4134 - - - - - - -
?/? c.1080C>T r.(=) p.(=) g.16139732C>T Copied from the Exome Variant Server ABCC1_000076 8/12574 0/8438 8/4136 - - - - - - -
?/? c.1102G>A r.(?) p.(Val368Met) g.16139754G>A Copied from the Exome Variant Server ABCC1_000077 3/12676 2/8472 1/4204 - - - - - - -
?/? c.1113T>C r.(=) p.(=) g.16139765T>C Copied from the Exome Variant Server ABCC1_000078 1/12716 0/8484 1/4232 - - - - - - -
?/? c.1167C>T r.(=) p.(=) g.16139819C>T Copied from the Exome Variant Server ABCC1_000079 1/12698 1/8474 0/4224 - - - - - - -
?/? c.1205_1208del r.(?) p.(Val403Ilefs*6) g.16139857_16139860del Copied from the Exome Variant Server ABCC1_000080 1/12122 1/8090 0/4032 - - - - - - -
?/? c.1218+8A>G r.(=) p.(=) g.16139878A>G Copied from the Exome Variant Server ABCC1_000081 4850/12558 2409/8430 2441/4128 - - - - - - -
?/? c.1219-50G>A r.(=) p.(=) g.16141949G>A Copied from the Exome Variant Server ABCC1_000082 10/12442 0/8362 10/4080 - - - - - - -
?/? c.1219-13C>T r.(=) p.(=) g.16141986C>T Copied from the Exome Variant Server ABCC1_000083 1/12422 1/8374 0/4048 - - - - - - -
?/? c.1224G>T r.(=) p.(=) g.16142004G>T Copied from the Exome Variant Server ABCC1_000084 2/12402 2/8376 0/4026 - - - - - - -
?/? c.1235A>G r.(?) p.(Asn412Ser) g.16142015A>G Copied from the Exome Variant Server ABCC1_000085 12/12378 2/8384 10/3994 - - - - - - -
?/? c.1296G>C r.(?) p.(Gln432His) g.16142076G>C Copied from the Exome Variant Server ABCC1_000086 1/12608 0/8450 1/4158 - - - - - - -
?/? c.1299G>T r.(?) p.(Arg433Ser) g.16142079G>T Copied from the Exome Variant Server ABCC1_000087 110/12618 103/8454 7/4164 - - - - - - -
?/? c.1356C>G r.(?) p.(Ile452Met) g.16142136C>G Copied from the Exome Variant Server ABCC1_000088 1/12678 1/8462 0/4216 - - - - - - -
?/? c.1374G>A r.(=) p.(=) g.16142154G>A Copied from the Exome Variant Server ABCC1_000089 1/12636 1/8446 0/4190 - - - - - - -
?/? c.1380+13C>T r.(=) p.(=) g.16142173C>T Copied from the Exome Variant Server ABCC1_000090 9/12614 2/8448 7/4166 - - - - - - -
?/? c.1381-29G>A r.(=) p.(=) g.16146552G>A Copied from the Exome Variant Server ABCC1_000091 1/12590 0/8416 1/4174 - - - - - - -
?/? c.1381-26A>C r.(=) p.(=) g.16146555A>C Copied from the Exome Variant Server ABCC1_000092 1/12608 1/8414 0/4194 - - - - - - -
?/? c.1381-9C>G r.(=) p.(=) g.16146572C>G Copied from the Exome Variant Server ABCC1_000093 1/12638 0/8438 1/4200 - - - - - - -
?/? c.1381-5C>G r.spl? p.? g.16146576C>G Copied from the Exome Variant Server ABCC1_000094 273/12636 16/8432 257/4204 - - - - - - -
?/? c.1395C>T r.(=) p.(=) g.16146595C>T Copied from the Exome Variant Server ABCC1_000095 1/12670 0/8442 1/4228 - - - - - - -
?/? c.1413G>A r.(=) p.(=) g.16146613G>A Copied from the Exome Variant Server ABCC1_000096 2/12658 1/8446 1/4212 - - - - - - -
?/? c.1466C>T r.(?) p.(Thr489Met) g.16146666C>T Copied from the Exome Variant Server ABCC1_000097 13/12532 0/8384 13/4148 - - - - - - -
?/? c.1473+19C>T r.(=) p.(=) g.16146692C>T Copied from the Exome Variant Server ABCC1_000098 1/12202 0/8288 1/3914 - - - - - - -
?/? c.1473+20G>A r.(=) p.(=) g.16146693G>A Copied from the Exome Variant Server ABCC1_000099 2/12144 0/8282 2/3862 - - - - - - -
?/? c.1473+22G>T r.(=) p.(=) g.16146695G>T Copied from the Exome Variant Server ABCC1_000100 1/12146 0/8286 1/3860 - - - - - - -
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