All variants in the ABCC9 gene

Information The variants shown are described using the NM_020297.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     
./. 14 c.1912-76? - - Substitution - GenBank ABCC9_00052 - - - Qi Ming
./. 37 c.? - p.Phe1496Phe Substitution - GenBank ABCC9_00008 - - - Qi Ming
./. 38 c.? - - Substitution - GenBank ABCC9_00008 - - - Qi Ming
./. 01 c.142+47C>T - - Substitution - GenBank ABCC9_00053 - - - Qi Ming
./. 03 c.285-22G>T - - Substitution - GenBank ABCC9_00054 - - - Qi Ming
./. 04 c.437T>A - p.Ile146Asn Substitution - GenBank ABCC9_00027 - - - Qi Ming
./. 05 c.764T>C - p.Met255Thr Substitution - GenBank ABCC9_00028 - - - Qi Ming
./. 05 c.809A>C - p.Glu270Ala Substitution - GenBank ABCC9_00029 - - - Qi Ming
./. 07 c.1012-59T>C - - Substitution - GenBank ABCC9_00055 - - - Qi Ming
./. 07 c.1063G>T - p.Ala355Ser Substitution - GenBank ABCC9_00030 - - - Qi Ming
./. 08 c.1213A>G - p.Met405Val Substitution - GenBank ABCC9_00031 - - - Qi Ming
./. 08 c.1253C>T - p.Ala418Val Substitution - GenBank ABCC9_00032 - - - Qi Ming
./. 09 c.1329G>A - p.Met443Ile Substitution - GenBank ABCC9_00033 NA - - Qi Ming
./. 12 c.1660-25C>T - - Substitution - GenBank ABCC9_00060 - - - Qi Ming
./. 13 c.1817A>C - p.Asn606Thr Substitution - GenBank ABCC9_00034 - - - Qi Ming
./. 13 c.1859G>A - p.Arg620Gln Substitution - GenBank ABCC9_00035 NA - - Qi Ming
./. 13 c.1874C>T - p.Ser625Leu Substitution - GenBank ABCC9_00036 A=0.002/3 - - Qi Ming
./. 13 c.1887G>T - p.Glu629Asp Substitution - GenBank ABCC9_00037 NA - - Qi Ming
./. 13 c.1909G>A - p.Val637Ile Substitution - GenBank ABCC9_00038 - - - Qi Ming
./. 14 c.1927A>C - p.Asn643His Substitution - GenBank ABCC9_00039 - - - Qi Ming
./. 14 c.1979G>A - p.Arg660Gln Substitution - GenBank ABCC9_00040 NA - - Qi Ming
./. 14 c.1988G>A - p.Arg663His Substitution - GenBank ABCC9_00041 NA - - Qi Ming
./. 15 c.2050G>A - p.Gly684Ser Substitution - GenBank ABCC9_00042 - - - Qi Ming
./. 16 c.2155C>T - p.Leu719Phe Substitution - GenBank ABCC9_00043 NA - - Qi Ming
./. 17 c.2200G>A - p.Val734Ile Substitution - GenBank ABCC9_00007 - - - Qi Ming
./. 17 c.2200G>A - p.Val734Ile Substitution - GenBank ABCC9_00044 T=0.004/4 - - Qi Ming
./. 17 c.2200G>T - p.Val734Ile Substitution - GenBank ABCC9_00002 1.9% Abnormal coronary vasomotility to endogenous and exogenous stimuli. - Qi Ming
./. 17 c.2222T>C - p.Phe741Ser Substitution - GenBank ABCC9_00045 - - - Qi Ming
./. 21 c.2588A>G - p.Lys863Arg Substitution - GenBank ABCC9_00046 - - - Qi Ming
./. 21 c.2630C>T - p.Thr877Met Substitution - GenBank ABCC9_00047 - - - Qi Ming
./. 22 c.2666G>A - p.Ser889Asn Substitution - GenBank ABCC9_00048 NA - - Qi Ming
./. 22 c.2737C>T - p.Leu913Phe Substitution - GenBank ABCC9_00049 NA - - Qi Ming
./. 22 c.2769+28A>C - - Substitution - GenBank ABCC9_00005 - - - Qi Ming
./. 23 c.2784C>G - p.Asp928Glu Substitution - GenBank ABCC9_00050 - - - Qi Ming
./. 23 c.2857G>A - p.Glu953Lys Substitution - GenBank ABCC9_00051 - - - Qi Ming
./. 24 c.2927A>T - p.Lys976Ile Substitution - GenBank ABCC9_00019 - - - Qi Ming
./. 24 c.2950C>T - p.Arg984Cys Substitution - GenBank ABCC9_00020 A=0.001/1 - - Qi Ming
./. 24 c.2951G>A - p.Arg984His Substitution - GenBank ABCC9_00021 - - - Qi Ming
./. 24 c.3041G>T - p.Trp1014Leu Substitution - GenBank ABCC9_00022 - - - Qi Ming
./. 27 c.3409G>A - p.Val1137Ile Substitution - GenBank ABCC9_00023 - - - Qi Ming
./. 28 c.3514C>T - p.Leu1172Phe Substitution - GenBank ABCC9_00024 - - - Qi Ming
./. 29 c.3650G>A - p.Arg1217Lys Substitution - GenBank ABCC9_00025 - - - Qi Ming
./. 29 c.3668C>T - p.Thr1223Met Substitution - GenBank ABCC9_00026 - - - Qi Ming
./. 29 c.3669+4C>G - - Substitution - GenBank ABCC9_00058 - - - Qi Ming
./. 32 c.3910G>A - p.Glu1304Lys Substitution - GenBank ABCC9_00013 - - - Qi Ming
./. 32 c.3910G>A - p.Glu1304Lys Substitution - GenBank ABCC9_00013 - - - Qi Ming
./. 32 c.3940A>G - p.Ile1314Val Substitution - GenBank ABCC9_00014 - - - Qi Ming
./. 32 c.3959G>A r.(?) p.(Arg1320Lys) Substitution g.21968761C>T GenBank ABCC9_000015 - - - Qi Ming
./. 35 c.4231T>C - p.Cys1411Arg Substitution - GenBank ABCC9_00016 - - - Qi Ming
./. 35 c.4289T>C - p.Met1430Thr Substitution - GenBank ABCC9_00017 - - - Qi Ming
./. 36 c.4322T>C - p.Val1441Ala Substitution - GenBank ABCC9_00018 - - - Qi Ming
./. 37 c.4462C>A - p.Gln1488Lys Substitution - GenBank ABCC9_00012 - - - Qi Ming
./. 38 c.4537G>A - p.Ala1513Thr Substitution - GenBank ABCC9_00006 - - - Qi Ming
./. 36 c.4570_4572delATTinsAAAT - p.Ile1524LysfsX5 Insertion/Deletion - GenBank ABCC9_00059 - - - Qi Ming
./. 38 c.4580A>C - p.Tyr1527Ser Substitution - GenBank ABCC9_00011 NA - - Qi Ming
./. 38 c.4624G>C - p.Ala1542Pro Substitution - GenBank ABCC9_00010 NA - - Qi Ming
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