Full data view for gene EDA2R

Information The variants shown are described using the NM_021783.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
Legend  

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.-10-14T>C r.(=) p.(=) g.65835886A>G Copied from the Exome Variant Server EDA2R_000048 14/10563 0/6728 14/3835 - - - - - - -
?/? c.-10-11T>C r.(=) p.(=) g.65835883A>G Copied from the Exome Variant Server EDA2R_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-10-10C>G r.(=) p.(=) g.65835882G>C Copied from the Exome Variant Server EDA2R_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-7T>A r.(=) p.(=) g.65835869A>T Copied from the Exome Variant Server EDA2R_000045 33/10563 0/6728 33/3835 - - - - - - -
?/? c.22T>C r.(?) p.(Tyr8His) g.65835841A>G Copied from the Exome Variant Server EDA2R_000044 77/10563 70/6728 7/3835 - - - - - - -
?/? c.40C>T r.(?) p.(Arg14Trp) g.65835823G>A Copied from the Exome Variant Server EDA2R_000043 2/10563 2/6728 0/3835 - - - - - - -
?/? c.41G>A r.(?) p.(Arg14Gln) g.65835822C>T Copied from the Exome Variant Server EDA2R_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.54C>T r.(=) p.(=) g.65835809G>A Copied from the Exome Variant Server EDA2R_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.58C>A r.(=) p.(=) g.65835805G>T Copied from the Exome Variant Server EDA2R_000040 2/10563 0/6728 2/3835 - - - - - - -
?/? c.65G>C r.(?) p.(Gly22Ala) g.65835798C>G Copied from the Exome Variant Server EDA2R_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.79C>T r.(=) p.(=) g.65835784G>A Copied from the Exome Variant Server EDA2R_000038 78/10563 0/6728 78/3835 - - - - - - -
?/? c.87+48C>A r.(=) p.(=) g.65835728G>T Copied from the Exome Variant Server EDA2R_000037 4/10561 2/6726 2/3835 - - - - - - -
?/? c.87+51C>T r.(=) p.(=) g.65835725G>A Copied from the Exome Variant Server EDA2R_000036 1/10561 0/6726 1/3835 - - - - - - -
?/? c.88-17C>T r.(=) p.(=) g.65825085G>A Copied from the Exome Variant Server EDA2R_000035 1/10562 1/6727 0/3835 - - - - - - -
?/? c.88-16C>T r.(=) p.(=) g.65825084G>A Copied from the Exome Variant Server EDA2R_000034 911/10562 4/6727 907/3835 - - - - - - -
?/? c.88-10C>T r.(=) p.(=) g.65825078G>A Copied from the Exome Variant Server EDA2R_000033 4/10563 0/6728 4/3835 - - - - - - -
?/? c.139C>T r.(?) p.(Arg47Cys) g.65825017G>A Copied from the Exome Variant Server EDA2R_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.170G>A r.(?) p.(Arg57Lys) g.65824986C>T Copied from the Exome Variant Server EDA2R_000031 5914/10563 5367/6728 547/3835 - - - - - - -
?/? c.266+28G>C r.(=) p.(=) g.65824862C>G Copied from the Exome Variant Server EDA2R_000030 23/10559 23/6725 0/3834 - - - - - - -
?/? c.266+52G>A r.(=) p.(=) g.65824838C>T Copied from the Exome Variant Server EDA2R_000029 7/4509 3/3097 4/1412 - - - - - - -
?/? c.267-52A>G r.(=) p.(=) g.65824400T>C Copied from the Exome Variant Server EDA2R_000028 1/6038 1/3621 0/2417 - - - - - - -
?/? c.275G>A r.(?) p.(Arg92Gln) g.65824340C>T Copied from the Exome Variant Server EDA2R_000027 2/10563 2/6728 0/3835 - - - - - - -
?/? c.334C>T r.(?) p.(Pro112Ser) g.65824281G>A Copied from the Exome Variant Server EDA2R_000026 26/10563 25/6728 1/3835 - - - - - - -
?/? c.352+18T>A r.(=) p.(=) g.65824245A>T Copied from the Exome Variant Server EDA2R_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.353-10_353-9insT r.(=) p.(=) g.65822648_65822649insA Copied from the Exome Variant Server EDA2R_000024 8/10200 5/6479 3/3721 - - - - - - -
?/? c.353-9G>A r.(=) p.(=) g.65822648C>T Copied from the Exome Variant Server EDA2R_000023 1/10559 0/6725 1/3834 - - - - - - -
?/? c.378G>A r.(=) p.(=) g.65822614C>T Copied from the Exome Variant Server EDA2R_000022 3/10561 0/6726 3/3835 - - - - - - -
?/? c.379G>A r.(?) p.(Ala127Thr) g.65822613C>T Copied from the Exome Variant Server EDA2R_000021 2/10561 0/6726 2/3835 - - - - - - -
?/? c.385A>G N/A N/A g.65822607T>C Copied from the Exome Variant Server EDA2R_000020 9708/10561 6723/6726 2985/3835 - - - - - - -
?/? c.408G>T r.(?) p.(Glu136Asp) g.65822584C>A Copied from the Exome Variant Server EDA2R_000019 2/10561 0/6727 2/3834 - - - - - - -
?/? c.475T>C r.(?) p.(Phe159Leu) g.65822517A>G Copied from the Exome Variant Server EDA2R_000018 1/10562 1/6727 0/3835 - - - - - - -
?/? c.517+42G>T r.(=) p.(=) g.65822433C>A Copied from the Exome Variant Server EDA2R_000017 5/10551 5/6720 0/3831 - - - - - - -
?/? c.525G>A r.(=) p.(=) g.65819695C>T Copied from the Exome Variant Server EDA2R_000016 1/10552 1/6721 0/3831 - - - - - - -
?/? c.573C>T r.(=) p.(=) g.65819647G>A Copied from the Exome Variant Server EDA2R_000015 2/10563 1/6728 1/3835 - - - - - - -
?/? c.651C>A r.(=) p.(=) g.65819569G>T Copied from the Exome Variant Server EDA2R_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.655G>A r.(?) p.(Glu219Lys) g.65819565C>T Copied from the Exome Variant Server EDA2R_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.663C>A r.(?) p.(Asp221Glu) g.65819557G>T Copied from the Exome Variant Server EDA2R_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.671C>T r.(?) p.(Ser224Leu) g.65819549G>A Copied from the Exome Variant Server EDA2R_000011 2/10563 2/6728 0/3835 - - - - - - -
?/? c.693G>T r.(?) p.(Gln231His) g.65819527C>A Copied from the Exome Variant Server EDA2R_000010 2/10563 0/6728 2/3835 - - - - - - -
?/? c.694G>T r.(?) p.(Glu232*) g.65819526C>A Copied from the Exome Variant Server EDA2R_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.696G>A r.(=) p.(=) g.65819524C>T Copied from the Exome Variant Server EDA2R_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.726G>A r.(=) p.(=) g.65819494C>T Copied from the Exome Variant Server EDA2R_000007 6/10563 1/6728 5/3835 - - - - - - -
?/? c.757G>A r.(?) p.(Glu253Lys) g.65819463C>T Copied from the Exome Variant Server EDA2R_000006 1/10562 1/6727 0/3835 - - - - - - -
?/? c.768G>A r.(=) p.(=) g.65819452C>T Copied from the Exome Variant Server EDA2R_000005 1/10562 0/6727 1/3835 - - - - - - -
?/? c.823G>T r.(?) p.(Gly275Trp) g.65819397C>A Copied from the Exome Variant Server EDA2R_000004 2/10560 2/6726 0/3834 - - - - - - -
?/? c.861G>A r.(=) p.(=) g.65819359C>T Copied from the Exome Variant Server EDA2R_000003 1/10553 1/6719 0/3834 - - - - - - -
?/? c.873C>G r.(=) p.(=) g.65819347G>C Copied from the Exome Variant Server EDA2R_000002 1/10555 0/6721 1/3834 - - - - - - -
?/? c.*10+29_*10+30insA r.(=) p.(=) g.65819286_65819287insT Copied from the Exome Variant Server EDA2R_000001 5544/10115 5014/6414 530/3701 - - - - - - -
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