All transcript variants in gene AWAT2

Information The variants shown are described using the NM_001002254.1 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-4C>G r.(=) p.(=) g.69269786G>C Copied from the Exome Variant Server AWAT2_000030 3/10563 0/6728 3/3835
?/? c.85+41C>T r.(=) p.(=) g.69269657G>A Copied from the Exome Variant Server AWAT2_000029 6/10563 0/6728 6/3835
?/? c.98T>C r.(?) p.(Ile33Thr) g.69264300A>G Copied from the Exome Variant Server AWAT2_000028 1/10563 1/6728 0/3835
?/? c.196+14_196+15insT r.(=) p.(=) g.69264187_69264188insA Copied from the Exome Variant Server AWAT2_000027 7/10204 7/6484 0/3720
?/? c.213C>G r.(=) p.(=) g.69263830G>C Copied from the Exome Variant Server AWAT2_000026 1/10558 1/6725 0/3833
?/? c.225C>T r.(=) p.(=) g.69263818G>A Copied from the Exome Variant Server AWAT2_000025 1/10560 0/6727 1/3833
?/? c.250G>A r.(?) p.(Asp84Asn) g.69263793C>T Copied from the Exome Variant Server AWAT2_000024 89/10563 3/6728 86/3835
?/? c.267+18C>T r.(=) p.(=) g.69263758G>A Copied from the Exome Variant Server AWAT2_000023 18/10559 15/6724 3/3835
?/? c.268-26C>G r.(=) p.(=) g.69263558G>C Copied from the Exome Variant Server AWAT2_000022 1/10553 1/6728 0/3825
?/? c.268-9C>T r.(=) p.(=) g.69263541G>A Copied from the Exome Variant Server AWAT2_000021 3/10559 0/6726 3/3833
?/? c.268-4G>A r.spl? p.? g.69263536C>T Copied from the Exome Variant Server AWAT2_000020 1/10562 1/6727 0/3835
?/? c.286A>G r.(?) p.(Ile96Val) g.69263514T>C Copied from the Exome Variant Server AWAT2_000019 68/10563 60/6728 8/3835
?/? c.288C>T r.(=) p.(=) g.69263512G>A Copied from the Exome Variant Server AWAT2_000018 77/10563 1/6728 76/3835
?/? c.299G>A r.(?) p.(Arg100His) g.69263501C>T Copied from the Exome Variant Server AWAT2_000017 5/10563 0/6728 5/3835
?/? c.384C>T r.(=) p.(=) g.69263416G>A Copied from the Exome Variant Server AWAT2_000016 1/10563 1/6728 0/3835
?/? c.472+41C>T r.(=) p.(=) g.69263287G>A Copied from the Exome Variant Server AWAT2_000015 1/10542 1/6711 0/3831
?/? c.517C>T r.(?) p.(His173Tyr) g.69263049G>A Copied from the Exome Variant Server AWAT2_000014 1/10562 1/6728 0/3834
?/? c.551T>C r.(?) p.(Ile184Thr) g.69263015A>G Copied from the Exome Variant Server AWAT2_000013 1/10560 0/6726 1/3834
?/? c.573A>G r.(=) p.(=) g.69262993T>C Copied from the Exome Variant Server AWAT2_000012 1/10561 0/6726 1/3835
?/? c.598C>T r.(=) p.(=) g.69262968G>A Copied from the Exome Variant Server AWAT2_000011 2/10562 2/6727 0/3835
?/? c.613C>T r.(?) p.(Arg205Trp) g.69262953G>A Copied from the Exome Variant Server AWAT2_000010 2/10559 1/6726 1/3833
?/? c.629G>A r.(?) p.(Arg210His) g.69262937C>T Copied from the Exome Variant Server AWAT2_000009 25/10557 1/6722 24/3835
?/? c.648-15G>A r.(=) p.(=) g.69262251C>T Copied from the Exome Variant Server AWAT2_000008 2/10563 2/6728 0/3835
?/? c.648-5T>C r.spl? p.? g.69262241A>G Copied from the Exome Variant Server AWAT2_000007 1/10563 1/6728 0/3835
?/? c.745T>C r.(?) p.(Phe249Leu) g.69262139A>G Copied from the Exome Variant Server AWAT2_000006 1/10563 1/6728 0/3835
?/? c.847+11G>A r.(=) p.(=) g.69262026C>T Copied from the Exome Variant Server AWAT2_000005 5/10563 0/6728 5/3835
?/? c.848-25T>C r.(=) p.(=) g.69261837A>G Copied from the Exome Variant Server AWAT2_000004 3/10563 0/6728 3/3835
?/? c.848-6T>C r.(=) p.(=) g.69261818A>G Copied from the Exome Variant Server AWAT2_000003 3217/10563 2560/6728 657/3835
?/? c.919T>C r.(?) p.(Tyr307His) g.69261741A>G Copied from the Exome Variant Server AWAT2_000002 2/10563 2/6728 0/3835
?/? c.*35+10G>A r.(=) p.(=) g.69261613C>T Copied from the Exome Variant Server AWAT2_000001 2/10563 0/6728 2/3835
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