Full data view for gene IL1A

Information The variants shown are described using the NM_000575.3 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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.-8-27G>A r.(=) p.(=) g.113541382C>T Copied from the Exome Variant Server IL1A_000044 299/13006 2/8600 297/4406 - - - - - - -
?/? c.2T>A r.? p.? g.113541346A>T Copied from the Exome Variant Server IL1A_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.10G>C r.(?) p.(Val4Leu) g.113541338C>G Copied from the Exome Variant Server IL1A_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.41G>C r.(?) p.(Cys14Ser) g.113541307C>G Copied from the Exome Variant Server IL1A_000038 2/13006 2/8600 0/4406 - - - - - - -
?/? c.43T>A r.(?) p.(Tyr15Asn) g.113541305A>T Copied from the Exome Variant Server IL1A_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.47G>A r.(?) p.(Ser16Asn) g.113541301C>T Copied from the Exome Variant Server IL1A_000053 2/13006 2/8600 0/4406 - - - - - - -
?/? c.47+15T>A r.(=) p.(=) g.113541286A>T Copied from the Exome Variant Server IL1A_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.48-72T>C r.(=) p.(=) g.113540413A>G Copied from the Exome Variant Server IL1A_000051 19/4566 0/3182 19/1384 - - - - - - -
?/? c.48-47C>G r.(=) p.(=) g.113540388G>C Copied from the Exome Variant Server IL1A_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.48-22T>A r.(=) p.(=) g.113540363A>T Copied from the Exome Variant Server IL1A_000049 2/13006 2/8600 0/4406 - - - - - - -
?/? c.48-18A>C r.(=) p.(=) g.113540359T>G Copied from the Exome Variant Server IL1A_000048 4/13006 3/8600 1/4406 - - - - - - -
?/? c.48-9T>C r.(=) p.(=) g.113540350A>G Copied from the Exome Variant Server IL1A_000047 3/13006 0/8600 3/4406 - - - - - - -
?/? c.48-2A>C r.spl? p.? g.113540343T>G Copied from the Exome Variant Server IL1A_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.74T>C r.(?) p.(Ile25Thr) g.113540315A>G Copied from the Exome Variant Server IL1A_000045 7/13006 6/8600 1/4406 - - - - - - -
?/? c.96+25T>C r.(=) p.(=) g.113540268A>G Copied from the Exome Variant Server IL1A_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.96+47T>C r.(=) p.(=) g.113540246A>G Copied from the Exome Variant Server IL1A_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.97-2A>T r.spl? p.? g.113539405T>A Copied from the Exome Variant Server IL1A_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.137G>C r.(?) p.(Gly46Ala) g.113539363C>G Copied from the Exome Variant Server IL1A_000037 5/13006 3/8600 2/4406 - - - - - - -
?/? c.155T>C r.(?) p.(Val52Ala) g.113539345A>G Copied from the Exome Variant Server IL1A_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.159T>C r.(=) p.(=) g.113539341A>G Copied from the Exome Variant Server IL1A_000035 2/13006 0/8600 2/4406 - - - - - - -
?/? c.187T>C r.(?) p.(Ser63Pro) g.113539313A>G Copied from the Exome Variant Server IL1A_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.232G>A r.(?) p.(Gly78Arg) g.113539268C>T Copied from the Exome Variant Server IL1A_000031 17/13006 0/8600 17/4406 - - - - - - -
?/? c.254G>A r.(?) p.(Arg85Gln) g.113539246C>T Copied from the Exome Variant Server IL1A_000029 25/13006 23/8600 2/4406 - - - - - - -
?/? c.260G>C r.(?) p.(Ser87Thr) g.113539240C>G Copied from the Exome Variant Server IL1A_000027 9/13006 0/8600 9/4406 - - - - - - -
?/? c.268C>A r.(?) p.(Gln90Lys) g.113539232G>T Copied from the Exome Variant Server IL1A_000025 25/13006 0/8600 25/4406 - - - - - - -
?/? c.270A>G r.(=) p.(=) g.113539230T>C Copied from the Exome Variant Server IL1A_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.276C>T r.(=) p.(=) g.113539224G>A Copied from the Exome Variant Server IL1A_000021 263/13006 0/8600 263/4406 - - - - - - -
?/? c.301G>A r.(?) p.(Ala101Thr) g.113539199C>T Copied from the Exome Variant Server IL1A_000019 2/13006 0/8600 2/4406 - - - - - - -
?/? c.308A>T r.(?) p.(Asp103Val) g.113539192T>A Copied from the Exome Variant Server IL1A_000017 3/13006 3/8600 0/4406 - - - - - - -
?/? c.319+22T>C r.(=) p.(=) g.113539159A>G Copied from the Exome Variant Server IL1A_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.340G>T r.(?) p.(Ala114Ser) g.113537223C>A Copied from the Exome Variant Server IL1A_000032 3403/13006 2595/8600 808/4406 - - - - - - -
?/? c.373A>G r.(?) p.(Asn125Asp) g.113537190T>C Copied from the Exome Variant Server IL1A_000030 11/13006 0/8600 11/4406 - - - - - - -
?/? c.375C>A r.(?) p.(Asn125Lys) g.113537188G>T Copied from the Exome Variant Server IL1A_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.387C>G r.(?) p.(Ile129Met) g.113537176G>C Copied from the Exome Variant Server IL1A_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.408G>C r.(=) p.(=) g.113537155C>G Copied from the Exome Variant Server IL1A_000024 3/13006 0/8600 3/4406 - - - - - - -
?/? c.412G>A r.(?) p.(Asp138Asn) g.113537151C>T Copied from the Exome Variant Server IL1A_000022 81/13006 0/8600 81/4406 - - - - - - -
?/? c.458C>T r.(?) p.(Thr153Met) g.113537105G>A Copied from the Exome Variant Server IL1A_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.459G>A r.(=) p.(=) g.113537104C>T Copied from the Exome Variant Server IL1A_000018 5/13006 5/8600 0/4406 - - - - - - -
?/? c.491-22T>C r.(=) p.(=) g.113535710A>G Copied from the Exome Variant Server IL1A_000016 3/13006 1/8600 2/4406 - - - - - - -
?/? c.491-14del r.(=) p.(=) g.113535702del Copied from the Exome Variant Server IL1A_000015 1/12520 1/8254 0/4266 - - - - - - -
?/? c.512A>G r.(?) p.(Tyr171Cys) g.113535667T>C Copied from the Exome Variant Server IL1A_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.526G>C r.(?) p.(Asp176His) g.113535653C>G Copied from the Exome Variant Server IL1A_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.534T>A r.(=) p.(=) g.113535645A>T Copied from the Exome Variant Server IL1A_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.539T>A r.(?) p.(Ile180Asn) g.113535640A>T Copied from the Exome Variant Server IL1A_000011 4/13006 4/8600 0/4406 - - - - - - -
?/? c.553A>C r.(=) p.(=) g.113535626T>G Copied from the Exome Variant Server IL1A_000010 2/13006 2/8600 0/4406 - - - - - - -
?/? c.615+8G>A r.(=) p.(=) g.113535556C>T Copied from the Exome Variant Server IL1A_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.615+24T>G r.(=) p.(=) g.113535540A>C Copied from the Exome Variant Server IL1A_000008 19/13006 18/8600 1/4406 - - - - - - -
?/? c.616-41C>A r.(=) p.(=) g.113532885G>T Copied from the Exome Variant Server IL1A_000007 9441/13006 6019/8600 3422/4406 - - - - - - -
?/? c.625G>A r.(?) p.(Glu209Lys) g.113532835C>T Copied from the Exome Variant Server IL1A_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.688A>G r.(?) p.(Thr230Ala) g.113532772T>C Copied from the Exome Variant Server IL1A_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.701T>G r.(?) p.(Phe234Cys) g.113532759A>C Copied from the Exome Variant Server IL1A_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*10C>T r.(=) p.(=) g.113532634G>A Copied from the Exome Variant Server IL1A_000003 19/13006 0/8600 19/4406 - - - - - - -
?/? c.*32T>C r.(=) p.(=) g.113532612A>G Copied from the Exome Variant Server IL1A_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*47T>C r.(=) p.(=) g.113532597A>G Copied from the Exome Variant Server IL1A_000001 1/13006 1/8600 0/4406 - - - - - - -
Legend