Full data view for gene IL13RA2

Information The variants shown are described using the NM_000640.2 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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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.85G>A r.(?) p.(Glu29Lys) g.114251748C>T Copied from the Exome Variant Server IL13RA2_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.95-47G>A r.(=) p.(=) g.114250431C>T Copied from the Exome Variant Server IL13RA2_000050 10/10507 9/6700 1/3807 - - - - - - -
?/? c.117G>A r.(=) p.(=) g.114250362C>T Copied from the Exome Variant Server IL13RA2_000049 1/10562 1/6727 0/3835 - - - - - - -
?/? c.130G>A r.(?) p.(Gly44Arg) g.114250349C>T Copied from the Exome Variant Server IL13RA2_000048 1/10562 1/6727 0/3835 - - - - - - -
?/? c.164C>T r.(?) p.(Pro55Leu) g.114250315G>A Copied from the Exome Variant Server IL13RA2_000047 1/10563 0/6728 1/3835 - - - - - - -
?/? c.221G>A r.(?) p.(Arg74Gln) g.114250258C>T Copied from the Exome Variant Server IL13RA2_000046 1/10563 0/6728 1/3835 - - - - - - -
?/? c.246+23G>A r.(=) p.(=) g.114250210C>T Copied from the Exome Variant Server IL13RA2_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.246+31G>A r.(=) p.(=) g.114250202C>T Copied from the Exome Variant Server IL13RA2_000044 18/10563 17/6728 1/3835 - - - - - - -
?/? c.246+52G>T r.(=) p.(=) g.114250181C>A Copied from the Exome Variant Server IL13RA2_000043 4/4525 4/3107 0/1418 - - - - - - -
?/? c.247-411T>C r.(=) p.(=) g.114249548A>G Copied from the Exome Variant Server IL13RA2_000042 612/3588 358/2379 254/1209 - - - - - - -
?/? c.247-274_247-273del r.(=) p.(=) g.114249410_114249411del Copied from the Exome Variant Server IL13RA2_000041 319/5470 8/3588 311/1882 - - - - - - -
?/? c.247-250_247-249insT r.(=) p.(=) g.114249386_114249387insA Copied from the Exome Variant Server IL13RA2_000040 69/5537 14/3655 55/1882 - - - - - - -
?/? c.309G>A r.(=) p.(=) g.114249075C>T Copied from the Exome Variant Server IL13RA2_000039 7/10563 7/6728 0/3835 - - - - - - -
?/? c.320C>T r.(?) p.(Thr107Met) g.114249064G>A Copied from the Exome Variant Server IL13RA2_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.331T>C r.(?) p.(Trp111Arg) g.114249053A>G Copied from the Exome Variant Server IL13RA2_000037 131/10563 5/6728 126/3835 - - - - - - -
?/? c.400+4A>G r.spl? p.? g.114248980T>C Copied from the Exome Variant Server IL13RA2_000036 2/10563 0/6728 2/3835 - - - - - - -
?/? c.400+53G>T r.(=) p.(=) g.114248931C>A Copied from the Exome Variant Server IL13RA2_000035 7/3600 0/2391 7/1209 - - - - - - -
?/? c.401-30T>C r.(=) p.(=) g.114248482A>G Copied from the Exome Variant Server IL13RA2_000034 1/10560 1/6725 0/3835 - - - - - - -
?/? c.401-17G>A r.(=) p.(=) g.114248469C>T Copied from the Exome Variant Server IL13RA2_000033 1229/10560 11/6725 1218/3835 - - - - - - -
?/? c.447T>C r.(=) p.(=) g.114248406A>G Copied from the Exome Variant Server IL13RA2_000032 1/10562 1/6727 0/3835 - - - - - - -
?/? c.477T>C r.(=) p.(=) g.114248376A>G Copied from the Exome Variant Server IL13RA2_000031 1/10562 0/6727 1/3835 - - - - - - -
?/? c.485G>C r.(?) p.(Gly162Ala) g.114248368C>G Copied from the Exome Variant Server IL13RA2_000030 1/10561 1/6727 0/3834 - - - - - - -
?/? c.521+32A>T r.(=) p.(=) g.114248300T>A Copied from the Exome Variant Server IL13RA2_000029 12/10492 0/6689 12/3803 - - - - - - -
?/? c.521+33A>C r.(=) p.(=) g.114248299T>G Copied from the Exome Variant Server IL13RA2_000028 1/10494 0/6690 1/3804 - - - - - - -
?/? c.522-44A>G r.(=) p.(=) g.114245435T>C Copied from the Exome Variant Server IL13RA2_000027 1227/10559 11/6724 1216/3835 - - - - - - -
?/? c.522-26C>G r.(=) p.(=) g.114245417G>C Copied from the Exome Variant Server IL13RA2_000026 1/10562 0/6727 1/3835 - - - - - - -
?/? c.648A>G r.(=) p.(=) g.114245265T>C Copied from the Exome Variant Server IL13RA2_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.707-30G>A r.(=) p.(=) g.114244259C>T Copied from the Exome Variant Server IL13RA2_000024 13/10562 0/6727 13/3835 - - - - - - -
?/? c.742C>T r.(?) p.(Arg248Trp) g.114244194G>A Copied from the Exome Variant Server IL13RA2_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.804G>T r.(?) p.(Arg268Ser) g.114244132C>A Copied from the Exome Variant Server IL13RA2_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.827T>C r.(?) p.(Ile276Thr) g.114244109A>G Copied from the Exome Variant Server IL13RA2_000021 23/10563 22/6728 1/3835 - - - - - - -
?/? c.841A>G r.(?) p.(Thr281Ala) g.114244095T>C Copied from the Exome Variant Server IL13RA2_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.852+14A>G r.(=) p.(=) g.114244070T>C Copied from the Exome Variant Server IL13RA2_000019 1/10561 0/6726 1/3835 - - - - - - -
?/? c.852+31A>G r.(=) p.(=) g.114244053T>C Copied from the Exome Variant Server IL13RA2_000018 2/10559 2/6724 0/3835 - - - - - - -
?/? c.852+34A>G r.(=) p.(=) g.114244050T>C Copied from the Exome Variant Server IL13RA2_000017 1/10559 0/6724 1/3835 - - - - - - -
?/? c.852+41C>A r.(=) p.(=) g.114244043G>T Copied from the Exome Variant Server IL13RA2_000016 1/10558 0/6723 1/3835 - - - - - - -
?/? c.957C>T r.(=) p.(=) g.114242535G>A Copied from the Exome Variant Server IL13RA2_000015 2/10563 2/6728 0/3835 - - - - - - -
?/? c.997+17C>G r.(=) p.(=) g.114242478G>C Copied from the Exome Variant Server IL13RA2_000014 896/10563 9/6728 887/3835 - - - - - - -
?/? c.998-19G>A r.(=) p.(=) g.114239897C>T Copied from the Exome Variant Server IL13RA2_000013 1249/10563 1069/6728 180/3835 - - - - - - -
?/? c.1010C>G r.(?) p.(Ser337Trp) g.114239866G>C Copied from the Exome Variant Server IL13RA2_000012 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1011G>A r.(=) p.(=) g.114239865C>T Copied from the Exome Variant Server IL13RA2_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1027C>T r.(?) p.(Arg343Cys) g.114239849G>A Copied from the Exome Variant Server IL13RA2_000010 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1045G>A r.(?) p.(Gly349Ser) g.114239831C>T Copied from the Exome Variant Server IL13RA2_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1090C>T r.(?) p.(Arg364Cys) g.114239786G>A Copied from the Exome Variant Server IL13RA2_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1091G>A r.(?) p.(Arg364His) g.114239785C>T Copied from the Exome Variant Server IL13RA2_000007 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1097C>G r.(?) p.(Pro366Arg) g.114239779G>C Copied from the Exome Variant Server IL13RA2_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1116+7T>C r.(=) p.(=) g.114239753A>G Copied from the Exome Variant Server IL13RA2_000005 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1116+22T>A r.(=) p.(=) g.114239738A>T Copied from the Exome Variant Server IL13RA2_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1116+36del r.(=) p.(=) g.114239724del Copied from the Exome Variant Server IL13RA2_000003 1190/10205 11/6484 1179/3721 - - - - - - -
?/? c.1134T>A r.(?) p.(Cys378*) g.114238652A>T Copied from the Exome Variant Server IL13RA2_000002 1/10558 0/6727 1/3831 - - - - - - -
?/? c.*33T>G r.(=) p.(=) g.114238610A>C Copied from the Exome Variant Server IL13RA2_000001 1/10558 1/6725 0/3833 - - - - - - -
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