Full data view for gene ASB9

Information The variants shown are described using the NM_001031739.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-45C>A r.(=) p.(=) g.15288041G>T Copied from the Exome Variant Server ASB9_000037 1/10561 1/6726 0/3835 - - - - - - -
?/? c.-42C>T r.(=) p.(=) g.15288038G>A Copied from the Exome Variant Server ASB9_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-10A>C r.(=) p.(=) g.15288006T>G Copied from the Exome Variant Server ASB9_000035 21/10563 17/6728 4/3835 - - - - - - -
?/? c.41C>T r.(?) p.(Ala14Val) g.15287956G>A Copied from the Exome Variant Server ASB9_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.51G>C r.(?) p.(Arg17Ser) g.15287946C>G Copied from the Exome Variant Server ASB9_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.84A>G r.(=) p.(=) g.15287913T>C Copied from the Exome Variant Server ASB9_000032 2/10563 1/6728 1/3835 - - - - - - -
?/? c.90G>T r.(?) p.(Met30Ile) g.15287907C>A Copied from the Exome Variant Server ASB9_000031 3/10563 0/6728 3/3835 - - - - - - -
?/? c.174+41del r.(=) p.(=) g.15276947del Copied from the Exome Variant Server ASB9_000029 27/10205 14/6484 13/3721 - - - - - - -
?/? c.175-24C>T r.(=) p.(=) g.15272990G>A Copied from the Exome Variant Server ASB9_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.207T>C r.(=) p.(=) g.15272934A>G Copied from the Exome Variant Server ASB9_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.282+34A>G r.(=) p.(=) g.15272825T>C Copied from the Exome Variant Server ASB9_000023 2/10563 2/6728 0/3835 - - - - - - -
?/? c.282+47A>T r.(=) p.(=) g.15272812T>A Copied from the Exome Variant Server ASB9_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.357T>C r.(=) p.(=) g.15270452A>G Copied from the Exome Variant Server ASB9_000030 119/10563 109/6728 10/3835 - - - - - - -
?/? c.399T>A r.(?) p.(Asp133Glu) g.15270410A>T Copied from the Exome Variant Server ASB9_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.427A>G r.(?) p.(Arg143Gly) g.15270382T>C Copied from the Exome Variant Server ASB9_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.433+24_433+25insTT r.(=) p.(=) g.15270351_15270352insAA Copied from the Exome Variant Server ASB9_000024 2/10205 0/6484 2/3721 - - - - - - -
?/? c.433+25del r.(=) p.(=) g.15270351del Copied from the Exome Variant Server ASB9_000022 21/10205 16/6484 5/3721 - - - - - - -
?/? c.433+25dup r.(=) p.(=) g.15270351dup Copied from the Exome Variant Server ASB9_000021 232/10205 17/6484 215/3721 - - - - - - -
?/? c.434-43G>A r.(=) p.(=) g.15268729C>T Copied from the Exome Variant Server ASB9_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.434-31del r.(=) p.(=) g.15268717del Copied from the Exome Variant Server ASB9_000018 3/10205 1/6484 2/3721 - - - - - - -
?/? c.434-34_434-30del r.(=) p.(=) g.15268716_15268720del Copied from the Exome Variant Server ASB9_000017 2/10205 1/6484 1/3721 - - - - - - -
?/? c.485A>G r.(?) p.(His162Arg) g.15268635T>C Copied from the Exome Variant Server ASB9_000016 5/10563 0/6728 5/3835 - - - - - - -
?/? c.568+23A>G r.(=) p.(=) g.15268529T>C Copied from the Exome Variant Server ASB9_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.568+36del r.(=) p.(=) g.15268516del Copied from the Exome Variant Server ASB9_000014 4/10205 2/6484 2/3721 - - - - - - -
?/? c.568+36dup r.(=) p.(=) g.15268516dup Copied from the Exome Variant Server ASB9_000013 20/10205 10/6484 10/3721 - - - - - - -
?/? c.569-50G>C r.(=) p.(=) g.15267107C>G Copied from the Exome Variant Server ASB9_000012 2543/10536 2274/6711 269/3825 - - - - - - -
?/? c.569-25del r.(=) p.(=) g.15267082del Copied from the Exome Variant Server ASB9_000011 3/10204 3/6484 0/3720 - - - - - - -
?/? c.569-22T>C r.(=) p.(=) g.15267079A>G Copied from the Exome Variant Server ASB9_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.569-13C>T r.(=) p.(=) g.15267070G>A Copied from the Exome Variant Server ASB9_000009 29/10563 1/6728 28/3835 - - - - - - -
?/? c.663T>C r.(=) p.(=) g.15266963A>G Copied from the Exome Variant Server ASB9_000008 2/10563 2/6728 0/3835 - - - - - - -
?/? c.672C>T r.(=) p.(=) g.15266954G>A Copied from the Exome Variant Server ASB9_000007 42/10563 1/6728 41/3835 - - - - - - -
?/? c.760+47G>A r.(=) p.(=) g.15266819C>T Copied from the Exome Variant Server ASB9_000006 3203/10563 886/6728 2317/3835 - - - - - - -
?/? c.761-32A>G r.(=) p.(=) g.15262784T>C Copied from the Exome Variant Server ASB9_000005 2/10563 2/6728 0/3835 - - - - - - -
?/? c.841C>T r.(?) p.(Leu281Phe) g.15262672G>A Copied from the Exome Variant Server ASB9_000004 2/10563 0/6728 2/3835 - - - - - - -
?/? c.843C>T r.(=) p.(=) g.15262670G>A Copied from the Exome Variant Server ASB9_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.844G>A r.(?) p.(Val282Ile) g.15262669C>T Copied from the Exome Variant Server ASB9_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*31G>T r.(=) p.(=) g.15262597C>A Copied from the Exome Variant Server ASB9_000001 1/10563 1/6728 0/3835 - - - - - - -
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