All variants affecting transcripts

15968 entries on 160 pages. Showing entries 1 - 100.
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AscendingGene     

Transcript     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00002 1.9% Abnormal coronary vasomotility to endogenous and exogenous stimuli. - Qi Ming ./. 17 c.2200G>T - p.Val734Ile
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00008 - - - Qi Ming ./. 37 c.? - p.Phe1496Phe
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00005 - - - Qi Ming ./. 22 c.2769+28A>C - -
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00006 - - - Qi Ming ./. 38 c.4537G>A - p.Ala1513Thr
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00007 - - - Qi Ming ./. 17 c.2200G>A - p.Val734Ile
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00008 - - - Qi Ming ./. 38 c.? - -
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00052 - - - Qi Ming ./. 14 c.1912-76? - -
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00010 NA - - Qi Ming ./. 38 c.4624G>C - p.Ala1542Pro
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00011 NA - - Qi Ming ./. 38 c.4580A>C - p.Tyr1527Ser
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00012 - - - Qi Ming ./. 37 c.4462C>A - p.Gln1488Lys
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00013 - - - Qi Ming ./. 32 c.3910G>A - p.Glu1304Lys
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00013 - - - Qi Ming ./. 32 c.3910G>A - p.Glu1304Lys
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00014 - - - Qi Ming ./. 32 c.3940A>G - p.Ile1314Val
ABCC9 NM_020297.2 12 Unknown Substitution g.21968761C>T GenBank ABCC9_000015 - - - Qi Ming ./. 32 c.3959G>A r.(?) p.(Arg1320Lys)
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00016 - - - Qi Ming ./. 35 c.4231T>C - p.Cys1411Arg
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00017 - - - Qi Ming ./. 35 c.4289T>C - p.Met1430Thr
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00018 - - - Qi Ming ./. 36 c.4322T>C - p.Val1441Ala
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00019 - - - Qi Ming ./. 24 c.2927A>T - p.Lys976Ile
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00020 A=0.001/1 - - Qi Ming ./. 24 c.2950C>T - p.Arg984Cys
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00021 - - - Qi Ming ./. 24 c.2951G>A - p.Arg984His
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00022 - - - Qi Ming ./. 24 c.3041G>T - p.Trp1014Leu
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00023 - - - Qi Ming ./. 27 c.3409G>A - p.Val1137Ile
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00024 - - - Qi Ming ./. 28 c.3514C>T - p.Leu1172Phe
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00025 - - - Qi Ming ./. 29 c.3650G>A - p.Arg1217Lys
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00026 - - - Qi Ming ./. 29 c.3668C>T - p.Thr1223Met
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00027 - - - Qi Ming ./. 04 c.437T>A - p.Ile146Asn
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00028 - - - Qi Ming ./. 05 c.764T>C - p.Met255Thr
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00029 - - - Qi Ming ./. 05 c.809A>C - p.Glu270Ala
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00030 - - - Qi Ming ./. 07 c.1063G>T - p.Ala355Ser
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00031 - - - Qi Ming ./. 08 c.1213A>G - p.Met405Val
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00032 - - - Qi Ming ./. 08 c.1253C>T - p.Ala418Val
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00033 NA - - Qi Ming ./. 09 c.1329G>A - p.Met443Ile
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00034 - - - Qi Ming ./. 13 c.1817A>C - p.Asn606Thr
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00035 NA - - Qi Ming ./. 13 c.1859G>A - p.Arg620Gln
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00036 A=0.002/3 - - Qi Ming ./. 13 c.1874C>T - p.Ser625Leu
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00037 NA - - Qi Ming ./. 13 c.1887G>T - p.Glu629Asp
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00038 - - - Qi Ming ./. 13 c.1909G>A - p.Val637Ile
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00039 - - - Qi Ming ./. 14 c.1927A>C - p.Asn643His
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00040 NA - - Qi Ming ./. 14 c.1979G>A - p.Arg660Gln
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00041 NA - - Qi Ming ./. 14 c.1988G>A - p.Arg663His
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00042 - - - Qi Ming ./. 15 c.2050G>A - p.Gly684Ser
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00043 NA - - Qi Ming ./. 16 c.2155C>T - p.Leu719Phe
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00044 T=0.004/4 - - Qi Ming ./. 17 c.2200G>A - p.Val734Ile
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00045 - - - Qi Ming ./. 17 c.2222T>C - p.Phe741Ser
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00046 - - - Qi Ming ./. 21 c.2588A>G - p.Lys863Arg
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00047 - - - Qi Ming ./. 21 c.2630C>T - p.Thr877Met
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00048 NA - - Qi Ming ./. 22 c.2666G>A - p.Ser889Asn
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00049 NA - - Qi Ming ./. 22 c.2737C>T - p.Leu913Phe
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00050 - - - Qi Ming ./. 23 c.2784C>G - p.Asp928Glu
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00051 - - - Qi Ming ./. 23 c.2857G>A - p.Glu953Lys
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00053 - - - Qi Ming ./. 01 c.142+47C>T - -
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00054 - - - Qi Ming ./. 03 c.285-22G>T - -
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00055 - - - Qi Ming ./. 07 c.1012-59T>C - -
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00060 - - - Qi Ming ./. 12 c.1660-25C>T - -
ABCC9 NM_020297.2 12 Unknown Substitution - GenBank ABCC9_00058 - - - Qi Ming ./. 29 c.3669+4C>G - -
ABCC9 NM_020297.2 12 Unknown Insertion/Deletion - GenBank ABCC9_00059 - - - Qi Ming ./. 36 c.4570_4572delATTinsAAAT - p.Ile1524LysfsX5
ACADM NM_000016.4 1 Unknown Substitution g.76190473A>G - ACADM_000001 1/130 - - ting zhang +/+ 1 c.1A>G r.0? Met1Val
ACADM NM_000016.4 1 Unknown Substitution g.76194146C>T Zhuwen Gong et al. (2021) ACADM_000002 2/130 - - ting zhang ?/? 2 c.91C>T r.0? Arg31Cys
ACADM NM_000016.4 1 Unknown Substitution g.76194176A>G Tong F et al. (2019) ACADM_000003 1/130 - - ting zhang ?/? 2i c.118+3A>G r.0? -
ACADM NM_000016.4 1 Unknown Substitution g.76198367C>T Zhuwen Gong et al. (2021) ACADM_000004 3/130 - - ting zhang ?/? 3 c.157C>T r.0? Arg53Cys
ACADM NM_000016.4 1 Unknown Substitution g.76198368G>A - ACADM_000005 1/130 - - ting zhang ?/? 3 c.158G>A r.0? Arg53His
ACADM NM_000016.4 1 Unknown Substitution g.76199227G>A - ACADM_000006 1/130 - - ting zhang ?/? 5 c.301G>A r.0? Gly101Arg
ACADM NM_000016.4 1 Unknown Substitution g.76198368T>A Zhuwen Gong et al. (2021) ACADM_000007 2/130 - - ting zhang ?/? 5 c.308T>A r.0? Phe103Tyr
ACADM NM_000016.4 1 Unknown Deletion g.76199264_76199267del Zhuwen Gong et al. (2021) ACADM_000008 1/130 - - ting zhang +?/+? 5 c.338_341delCTTA r.0? Ala113Valfs*36
ACADM NM_000016.4 1 Unknown Substitution g.76199288C>T - ACADM_000010 1/130 - - ting zhang ?/? 5 c.362C>T r.0? Thr121Ile
ACADM NM_000016.4 1 Unknown Substitution g.76199311G>A Zhuwen Gong et al. (2021) ACADM_000011 1/130 - - ting zhang ?/? 5 c.385G>A r.0? Gly129Arg
ACADM NM_000016.4 1 Unknown Deletion g.76199314delG Zhuwen Gong et al. (2021) ACADM_000012 5/130 - - ting zhang +/+ 5i c.387+1delG r.0? -
ACADM NM_000016.4 1 Unknown Substitution g.76200518A>T - ACADM_000013 1/130 - - ting zhang +?/+? 8 c.430A>T r.0? Lys144*
ACADM NM_000016.4 1 Unknown Deletion g.76200536_76200541del - ACADM_000014 1/130 - - ting zhang +?/+? 6 c.448_453del r.0? Thr150_Glu151del
ACADM NM_000016.4 1 Unknown Deletion g.76200537_76200540del Benjing Wang et al. (2019) ACADM_000015 32/130 - - ting zhang +/+ 6 c.449_452del r.0? Thr150Argfs*4
ACADM NM_000016.4 1 Unknown Substitution g.76200549T>G Zhuwen Gong et al. (2021) ACADM_000016 2/130 - - ting zhang ?/? 6 c.461T>G r.0? Leu154Trp
ACADM NM_000016.4 1 Unknown Deletion g.76205750_76205782del Zhuwen Gong et al. (2021) ACADM_000019 1/130 - - ting zhang +?/+? 7 c.554_586del r.0? Ile185_Gly196delinsArg
ACADM NM_000016.4 1 Unknown Substitution g.76205776A>G Tong F et al. (2019) ACADM_000021 8/130 - - ting zhang +?/+? 7 c.580A>G r.0? Asn194Asp
ACADM NM_000016.4 1 Unknown Substitution g.76205783G>A - ACADM_000022 3/130 - - ting zhang ?/? 7 c.587G>A r.0? Gly196Glu
ACADM NM_000016.4 1 Unknown Substitution g.76205785A>G Benjing Wang et al. (2019) ACADM_000023 2/130 - - ting zhang ?/? 7 c.589A>G r.0? Lys197Glu
ACADM NM_000016.4 1 Unknown Substitution g.76211507C>T - ACADM_000024 1/130 - - ting zhang ?/? 8 c.616C>T r.0? Arg206Cys
ACADM NM_000016.4 1 Unknown Deletion g.76211515del Zhuwen Gong et al. (2021) ACADM_000025 1/130 - - ting zhang +?/+? 8 c.624del r.0? Pro209Glnfs*30
ACADM NM_000016.4 1 Unknown Substitution g.76211559T>C Zhuwen Gong et al. (2021) ACADM_000026 2/130 - - ting zhang ?/? 8 c.668T>C r.0? Ile223Thr
ACADM NM_000016.4 1 Unknown Substitution g.76215103G>A Zhuwen Gong et al. (2021) ACADM_000028 2/130 - - ting zhang +?/+? 8i c.709-1G>A r.0? -
ACADM NM_000016.4 1 Unknown Substitution g.76215104G>C Zhuwen Gong et al. (2021) ACADM_000029 1/130 - - ting zhang ?/? 9 c.709G>C r.0? Glu237Gln
ACADM NM_000016.4 1 Unknown Substitution g.76215122G>C Zhuwen Gong et al. (2021) ACADM_000032 2/130 - - ting zhang +?/+? 9 c.727C>T r.0? Arg243*
ACADM NM_000016.4 1 Unknown Substitution g.76215164G>A Zhuwen Gong et al. (2021) ACADM_000033 1/130 - - ting zhang ?/? 9 c.769G>A r.0? Val257Met
ACADM NM_000016.4 1 Unknown Substitution g.76216167G>C Tong F et al. (2019) ACADM_000036 1/130 - - ting zhang ?/? 9 c.881G>C r.0? Arg294Thr
ACADM NM_000016.4 1 Unknown Substitution g.76216191A>G Zhuwen Gong et al. (2021) ACADM_000037 1/130 - - ting zhang ?/? 10 c.905A>G r.0? Tyr302Cys
ACADM NM_000016.4 1 Unknown Substitution g.76216214G>A Tong F et al. (2019) ACADM_000038 2/130 - - ting zhang ?/? 10 c.928G>A r.0? Gly310Arg
ACADM NM_000016.4 1 Unknown Substitution g.76216233T>G Zhuwen Gong et al. (2021) ACADM_000039 1/130 - - ting zhang +?/+? 10i c.945+2T>G r.0? -
ACADM NM_000016.4 1 Unknown Insertion/Deletion g.76226831_76226832delinsAT Zhuwen Gong et al. (2021) ACADM_000040 1/130 - - ting zhang +/. 11 c.970_971delinsAT r.0? Ala324Ile
ACADM NM_000016.4 1 Unknown Substitution g.76226831G>A Benjing Wang et al. (2019) ACADM_000041 2/130 - - ting zhang ?/? 11 c.970G>A r.0? Ala324Thr
ACADM NM_000016.4 1 Unknown Substitution g.76226831G>C - ACADM_000042 1/130 - - ting zhang ?/? 11 c.970G>C r.0? Ala324Pro
ACADM NM_000016.4 1 Unknown Substitution g.76226843A>G Tong F et al. (2019) ACADM_000043 2/130 - - ting zhang +?/+? 11 c.982A>G r.0? Met328Val
ACADM NM_000016.4 1 Unknown Deletion g.76226878_76226879del - ACADM_000045 1/130 - - ting zhang +?/+? 11 c.1017_1018del r.0? Arg339Serfs*6
ACADM NM_000016.4 1 Unknown Substitution g.76226901G>T Zhuwen Gong et al. (2021) ACADM_000046 5/130 - - ting zhang +?/+? 11 c.1040G>T r.0? Gly347Val
ACADM NM_000016.4 1 Unknown Substitution g.76226906C>T Zhuwen Gong et al. (2021) ACADM_000047 2/130 - - ting zhang ?/? 11 c.1045C>T r.0? Arg349*
ACADM NM_000016.4 1 Unknown Substitution g.76226946G>A Zhuwen Gong et al. (2021) ACADM_000048 9/130 - - ting zhang +/+ 11 c.1085G>A r.0? Gly362Glu
ACADM NM_000016.4 1 Unknown Substitution g.76226949A>G Zhuwen Gong et al. (2021) ACADM_000049 1/130 - - ting zhang ?/? 11 c.1088A>G r.0? Asp363Gly
ACADM NM_000016.4 1 Unknown Substitution g.76228411T>C Zhuwen Gong et al. (2021) ACADM_000053 2/130 - - ting zhang +?/+? 12 c.1229T>C r.0? Ile410Thr
ACADM NM_000016.4 1 Unknown Substitution g.76228420G>A Benjing Wang et al. (2019) ACADM_000054 2/130 - - ting zhang ?/? 12 c.1238G>A r.0? Arg413His
ACADM NM_000016.4 1 Unknown Substitution g.76228430T>G Ting Wang et al. (2019) ACADM_000056 2/130 - - ting zhang ?/? 12 c.1248T>G r.0? Ile416Met
ACADM NM_000016.4 1 Unknown Substitution g.76228429T>C Ting Wang et al. (2019) ACADM_000055 1/130 - - ting zhang ?/? 12 c.1247T>C r.0? Ile416Thr
ACADM NM_000016.4 1 Unknown Deletion g.76226807_76227055del Tong F et al. (2019) ACADM_000052 1/130 - - ting zhang +?/+? 11 c.946_1194del r.0? His316_Gln398del
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