Full data view for gene RRAGB

Information The variants shown are described using the NM_016656.3 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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.7G>A r.(?) p.(Glu3Lys) g.55744767G>A Copied from the Exome Variant Server RRAGB_000001 1/10563 0/6728 1/3835 - - - - - - -
?/? c.30G>C r.(=) p.(=) g.55744790G>C Copied from the Exome Variant Server RRAGB_000002 1/10563 0/6728 1/3835 - - - - - - -
?/? c.92+18G>T r.(=) p.(=) g.55744870G>T Copied from the Exome Variant Server RRAGB_000003 8/10563 7/6728 1/3835 - - - - - - -
?/? c.92+33del r.(=) p.(=) g.55744885del Copied from the Exome Variant Server RRAGB_000004 9/10195 9/6477 0/3718 - - - - - - -
?/? c.100C>G r.(?) p.(Leu34Val) g.55745754C>G Copied from the Exome Variant Server RRAGB_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.122A>G r.(?) p.(Lys41Arg) g.55745776A>G Copied from the Exome Variant Server RRAGB_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.126+23A>G r.(=) p.(=) g.55745803A>G Copied from the Exome Variant Server RRAGB_000007 1/10562 0/6727 1/3835 - - - - - - -
?/? c.127-41T>G r.(=) p.(=) g.55748578T>G Copied from the Exome Variant Server RRAGB_000008 2/10563 2/6728 0/3835 - - - - - - -
?/? c.127-23C>T r.(=) p.(=) g.55748596C>T Copied from the Exome Variant Server RRAGB_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.127-8G>A r.(=) p.(=) g.55748611G>A Copied from the Exome Variant Server RRAGB_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.180C>T r.(=) p.(=) g.55748672C>T Copied from the Exome Variant Server RRAGB_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.227-11del r.(=) p.(=) g.55753729del Copied from the Exome Variant Server RRAGB_000012 207/10199 135/6482 72/3717 - - - - - - -
?/? c.227-8T>C r.(=) p.(=) g.55753732T>C Copied from the Exome Variant Server RRAGB_000013 1/10556 1/6725 0/3831 - - - - - - -
?/? c.283G>A r.(?) p.(Val95Ile) g.55753796G>A Copied from the Exome Variant Server RRAGB_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.298A>G r.(?) p.(Asn100Asp) g.55753811A>G Copied from the Exome Variant Server RRAGB_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.310+36A>T r.(=) p.(=) g.55753859A>T Copied from the Exome Variant Server RRAGB_000016 9/10560 0/6728 9/3832 - - - - - - -
?/? c.311-33A>T r.(=) p.(=) g.55755694A>T Copied from the Exome Variant Server RRAGB_000017 60/10563 0/6728 60/3835 - - - - - - -
?/? c.311-21del r.(=) p.(=) g.55755706del Copied from the Exome Variant Server RRAGB_000018 17/10205 12/6484 5/3721 - - - - - - -
?/? c.377+33C>T r.(=) p.(=) g.55755826C>T Copied from the Exome Variant Server RRAGB_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.377+46C>T r.(=) p.(=) g.55755839C>T Copied from the Exome Variant Server RRAGB_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.378-23_378-22del r.(=) p.(=) g.55757774_55757775del Copied from the Exome Variant Server RRAGB_000021 51/10136 28/6446 23/3690 - - - - - - -
?/? c.378-22A>G r.(=) p.(=) g.55757775A>G Copied from the Exome Variant Server RRAGB_000022 2/10511 0/6698 2/3813 - - - - - - -
?/? c.378-20A>G r.(=) p.(=) g.55757777A>G Copied from the Exome Variant Server RRAGB_000023 17/10515 6/6701 11/3814 - - - - - - -
?/? c.378-14A>T r.(=) p.(=) g.55757783A>T Copied from the Exome Variant Server RRAGB_000024 33/10532 0/6708 33/3824 - - - - - - -
?/? c.414A>G r.(=) p.(=) g.55757833A>G Copied from the Exome Variant Server RRAGB_000025 1/10561 0/6726 1/3835 - - - - - - -
?/? c.430C>T r.(?) p.(Arg144*) g.55757849C>T Copied from the Exome Variant Server RRAGB_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.438G>A r.(=) p.(=) g.55757857G>A Copied from the Exome Variant Server RRAGB_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.474C>T r.(=) p.(=) g.55757893C>T Copied from the Exome Variant Server RRAGB_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.486G>T r.(?) p.(Lys162Asn) g.55757905G>T Copied from the Exome Variant Server RRAGB_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.600+8A>G r.(=) p.(=) g.55758027A>G Copied from the Exome Variant Server RRAGB_000030 4/10563 4/6728 0/3835 - - - - - - -
?/? c.601-26T>A r.(=) p.(=) g.55777508T>A Copied from the Exome Variant Server RRAGB_000031 1/10547 0/6718 1/3829 - - - - - - -
?/? c.696+14C>T r.(=) p.(=) g.55777643C>T Copied from the Exome Variant Server RRAGB_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.696+15C>G r.(=) p.(=) g.55777644C>G Copied from the Exome Variant Server RRAGB_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.696+52A>G r.(=) p.(=) g.55777681A>G Copied from the Exome Variant Server RRAGB_000034 22/6034 0/3621 22/2413 - - - - - - -
?/? c.819+12C>A r.(=) p.(=) g.55779959C>A Copied from the Exome Variant Server RRAGB_000035 7/10563 7/6728 0/3835 - - - - - - -
?/? c.819+25G>A r.(=) p.(=) g.55779972G>A Copied from the Exome Variant Server RRAGB_000036 2/10563 1/6728 1/3835 - - - - - - -
?/? c.819+36T>C r.(=) p.(=) g.55779983T>C Copied from the Exome Variant Server RRAGB_000037 38/10563 0/6728 38/3835 - - - - - - -
?/? c.851G>A r.(?) p.(Arg284His) g.55782305G>A Copied from the Exome Variant Server RRAGB_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.912-21C>T r.(=) p.(=) g.55783628C>T Copied from the Exome Variant Server RRAGB_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.912-4A>G r.spl? p.? g.55783645A>G Copied from the Exome Variant Server RRAGB_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1020G>A r.(=) p.(=) g.55783757G>A Copied from the Exome Variant Server RRAGB_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1028-45C>T r.(=) p.(=) g.55784634C>T Copied from the Exome Variant Server RRAGB_000042 2/10553 0/6720 2/3833 - - - - - - -
?/? c.1028-14G>A r.(=) p.(=) g.55784665G>A Copied from the Exome Variant Server RRAGB_000043 16/10562 1/6727 15/3835 - - - - - - -
?/? c.1120C>T r.(?) p.(Arg374Cys) g.55784771C>T Copied from the Exome Variant Server RRAGB_000044 1/10563 1/6728 0/3835 - - - - - - -
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