Full data view for gene ASB12

Information The variants shown are described using the NM_130388.3 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.47C>A r.(?) p.(Thr16Asn) g.63445484G>T Copied from the Exome Variant Server ASB12_000047 1/10561 1/6726 0/3835 - - - - - - -
?/? c.72C>T r.(=) p.(=) g.63445459G>A Copied from the Exome Variant Server ASB12_000046 634/10561 39/6726 595/3835 - - - - - - -
?/? c.92C>T r.(?) p.(Thr31Ile) g.63445439G>A Copied from the Exome Variant Server ASB12_000045 15/10563 0/6728 15/3835 - - - - - - -
?/? c.100G>A r.(?) p.(Glu34Lys) g.63445431C>T Copied from the Exome Variant Server ASB12_000044 57/10563 0/6728 57/3835 - - - - - - -
?/? c.115C>G r.(?) p.(Leu39Val) g.63445416G>C Copied from the Exome Variant Server ASB12_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.138C>T r.(=) p.(=) g.63445393G>A Copied from the Exome Variant Server ASB12_000042 2/10563 2/6728 0/3835 - - - - - - -
?/? c.157C>A r.(?) p.(Gln53Lys) g.63445374G>T Copied from the Exome Variant Server ASB12_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.167G>A r.(?) p.(Arg56His) g.63445364C>T Copied from the Exome Variant Server ASB12_000040 4/10563 3/6728 1/3835 - - - - - - -
?/? c.213_219del r.(?) p.(Val72Glyfs*13) g.63445312_63445318del Copied from the Exome Variant Server ASB12_000039 44/10205 21/6484 23/3721 - - - - - - -
?/? c.233G>T r.(?) p.(Arg78Leu) g.63445298C>A Copied from the Exome Variant Server ASB12_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.267G>A r.(=) p.(=) g.63445264C>T Copied from the Exome Variant Server ASB12_000037 6/10563 0/6728 6/3835 - - - - - - -
?/? c.282C>A r.(=) p.(=) g.63445249G>T Copied from the Exome Variant Server ASB12_000036 2/10562 0/6727 2/3835 - - - - - - -
?/? c.310G>A r.(?) p.(Val104Ile) g.63445221C>T Copied from the Exome Variant Server ASB12_000035 2/10562 1/6727 1/3835 - - - - - - -
?/? c.319C>T r.(?) p.(Gln107*) g.63445212G>A Copied from the Exome Variant Server ASB12_000034 1/10562 1/6727 0/3835 - - - - - - -
?/? c.325C>A r.(?) p.(Pro109Thr) g.63445206G>T Copied from the Exome Variant Server ASB12_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.383C>G r.(?) p.(Ala128Gly) g.63445148G>C Copied from the Exome Variant Server ASB12_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.388G>C r.(?) p.(Ala130Pro) g.63445143C>G Copied from the Exome Variant Server ASB12_000031 5/10563 5/6728 0/3835 - - - - - - -
?/? c.426C>T r.(=) p.(=) g.63445105G>A Copied from the Exome Variant Server ASB12_000030 3/10563 0/6728 3/3835 - - - - - - -
?/? c.427G>A r.(?) p.(Val143Met) g.63445104C>T Copied from the Exome Variant Server ASB12_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.428T>C r.(?) p.(Val143Ala) g.63445103A>G Copied from the Exome Variant Server ASB12_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.442C>T r.(?) p.(Arg148Cys) g.63445089G>A Copied from the Exome Variant Server ASB12_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.498C>T r.(=) p.(=) g.63445033G>A Copied from the Exome Variant Server ASB12_000026 4/10563 2/6728 2/3835 - - - - - - -
?/? c.565G>A r.(?) p.(Ala189Thr) g.63444966C>T Copied from the Exome Variant Server ASB12_000025 4/10563 3/6728 1/3835 - - - - - - -
?/? c.592C>T r.(?) p.(Arg198Cys) g.63444939G>A Copied from the Exome Variant Server ASB12_000024 5/10563 5/6728 0/3835 - - - - - - -
?/? c.593G>A r.(?) p.(Arg198His) g.63444938C>T Copied from the Exome Variant Server ASB12_000023 5/10563 0/6728 5/3835 - - - - - - -
?/? c.609C>T r.(=) p.(=) g.63444922G>A Copied from the Exome Variant Server ASB12_000022 20/10563 18/6728 2/3835 - - - - - - -
?/? c.622G>A r.(?) p.(Asp208Asn) g.63444909C>T Copied from the Exome Variant Server ASB12_000021 2/10563 0/6728 2/3835 - - - - - - -
?/? c.644G>A r.(?) p.(Gly215Asp) g.63444887C>T Copied from the Exome Variant Server ASB12_000020 119/10563 1/6728 118/3835 - - - - - - -
?/? c.670C>T r.(?) p.(Arg224Cys) g.63444861G>A Copied from the Exome Variant Server ASB12_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.671G>A r.(?) p.(Arg224His) g.63444860C>T Copied from the Exome Variant Server ASB12_000018 2/10563 2/6728 0/3835 - - - - - - -
?/? c.739G>T r.(?) p.(Gly247Cys) g.63444792C>A Copied from the Exome Variant Server ASB12_000017 12/10563 11/6728 1/3835 - - - - - - -
?/? c.743C>T r.(?) p.(Ala248Val) g.63444788G>A Copied from the Exome Variant Server ASB12_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.756T>C r.(=) p.(=) g.63444775A>G Copied from the Exome Variant Server ASB12_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.759A>G r.(=) p.(=) g.63444772T>C Copied from the Exome Variant Server ASB12_000014 5/10563 0/6728 5/3835 - - - - - - -
?/? c.763C>T r.(?) p.(Leu255Phe) g.63444768G>A Copied from the Exome Variant Server ASB12_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.806del r.(?) p.(Leu269Cysfs*18) g.63444725del Copied from the Exome Variant Server ASB12_000012 4/10205 4/6484 0/3721 - - - - - - -
?/? c.819C>A r.(=) p.(=) g.63444712G>T Copied from the Exome Variant Server ASB12_000011 39/10563 35/6728 4/3835 - - - - - - -
?/? c.821G>C r.(?) p.(Arg274Pro) g.63444710C>G Copied from the Exome Variant Server ASB12_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.823+50A>G r.(=) p.(=) g.63444658T>C Copied from the Exome Variant Server ASB12_000009 1/10561 1/6726 0/3835 - - - - - - -
?/? c.832C>T r.(?) p.(Arg278Trp) g.63444340G>A Copied from the Exome Variant Server ASB12_000008 4/10563 3/6728 1/3835 - - - - - - -
?/? c.854G>A r.(?) p.(Arg285His) g.63444318C>T Copied from the Exome Variant Server ASB12_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.863T>C r.(?) p.(Val288Ala) g.63444309A>G Copied from the Exome Variant Server ASB12_000006 5/10563 0/6728 5/3835 - - - - - - -
?/? c.901A>G r.(?) p.(Ile301Val) g.63444271T>C Copied from the Exome Variant Server ASB12_000005 17/10563 16/6728 1/3835 - - - - - - -
?/? c.908A>G r.(?) p.(Gln303Arg) g.63444264T>C Copied from the Exome Variant Server ASB12_000004 2/10563 2/6728 0/3835 - - - - - - -
?/? c.927G>A r.(?) p.(Met309Ile) g.63444245C>T Copied from the Exome Variant Server ASB12_000003 8/10563 0/6728 8/3835 - - - - - - -
?/? c.*25T>C r.(=) p.(=) g.63444190A>G Copied from the Exome Variant Server ASB12_000002 2/10563 0/6728 2/3835 - - - - - - -
?/? c.*30C>T r.(=) p.(=) g.63444185G>A Copied from the Exome Variant Server ASB12_000001 2/10563 1/6728 1/3835 - - - - - - -
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