Full data view for gene RGN

Information The variants shown are described using the NM_004683.4 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.-15-36C>T r.(=) p.(=) g.46940493C>T Copied from the Exome Variant Server RGN_000001 60/10563 2/6728 58/3835 - - - - - - -
?/? c.-15-22T>A r.(=) p.(=) g.46940507T>A Copied from the Exome Variant Server RGN_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-4G>A r.(=) p.(=) g.46940540G>A Copied from the Exome Variant Server RGN_000003 63/10563 0/6728 63/3835 - - - - - - -
?/? c.96A>G r.(=) p.(=) g.46940639A>G Copied from the Exome Variant Server RGN_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.100A>C r.(?) p.(Ile34Leu) g.46940643A>C Copied from the Exome Variant Server RGN_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.108A>G r.(=) p.(=) g.46940651A>G Copied from the Exome Variant Server RGN_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.163+28_163+52del r.(=) p.(=) g.46940734_46940758del Copied from the Exome Variant Server RGN_000007 35/10205 0/6484 35/3721 - - - - - - -
?/? c.163+48G>A r.(=) p.(=) g.46940754G>A Copied from the Exome Variant Server RGN_000008 1/10555 0/6728 1/3827 - - - - - - -
?/? c.164-34G>A r.(=) p.(=) g.46943783G>A Copied from the Exome Variant Server RGN_000009 1/10558 0/6724 1/3834 - - - - - - -
?/? c.181G>C r.(?) p.(Val61Leu) g.46943834G>C Copied from the Exome Variant Server RGN_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.191G>A r.(?) p.(Arg64His) g.46943844G>A Copied from the Exome Variant Server RGN_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.198G>T r.(=) p.(=) g.46943851G>T Copied from the Exome Variant Server RGN_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.205_206del r.(?) p.(Tyr69Cysfs*26) g.46943858_46943859del Copied from the Exome Variant Server RGN_000016 1/10205 1/6484 0/3721 - - - - - - -
?/? c.218T>C r.(?) p.(Ile73Thr) g.46943871T>C Copied from the Exome Variant Server RGN_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.259G>A r.(?) p.(Ala87Thr) g.46943912G>A Copied from the Exome Variant Server RGN_000012 1/10561 0/6727 1/3834 - - - - - - -
?/? c.275C>T r.(?) p.(Thr92Met) g.46943928C>T Copied from the Exome Variant Server RGN_000014 1/10560 0/6726 1/3834 - - - - - - -
?/? c.276G>T r.(=) p.(=) g.46943929G>T Copied from the Exome Variant Server RGN_000017 1/10560 0/6726 1/3834 - - - - - - -
?/? c.285C>T r.(=) p.(=) g.46943938C>T Copied from the Exome Variant Server RGN_000018 1/10561 1/6726 0/3835 - - - - - - -
?/? c.301C>T r.(?) p.(Arg101Cys) g.46943954C>T Copied from the Exome Variant Server RGN_000019 90/10559 0/6725 90/3834 - - - - - - -
?/? c.308A>G r.(?) p.(Asn103Ser) g.46943961A>G Copied from the Exome Variant Server RGN_000020 6/10559 5/6725 1/3834 - - - - - - -
?/? c.328G>A r.(?) p.(Ala110Thr) g.46943981G>A Copied from the Exome Variant Server RGN_000021 2/10558 2/6724 0/3834 - - - - - - -
?/? c.335G>A r.(?) p.(Arg112Lys) g.46943988G>A Copied from the Exome Variant Server RGN_000022 1/10554 0/6721 1/3833 - - - - - - -
?/? c.346+3A>G r.spl? p.? g.46944002A>G Copied from the Exome Variant Server RGN_000023 1/10548 1/6717 0/3831 - - - - - - -
?/? c.346+10C>T r.(=) p.(=) g.46944009C>T Copied from the Exome Variant Server RGN_000024 18/10537 0/6714 18/3823 - - - - - - -
?/? c.347-40A>G r.(=) p.(=) g.46949135A>G Copied from the Exome Variant Server RGN_000025 1/10561 0/6728 1/3833 - - - - - - -
?/? c.360G>C r.(?) p.(Glu120Asp) g.46949188G>C Copied from the Exome Variant Server RGN_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.376G>A r.(?) p.(Val126Ile) g.46949204G>A Copied from the Exome Variant Server RGN_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.386G>A r.(?) p.(Arg129Gln) g.46949214G>A Copied from the Exome Variant Server RGN_000028 2/10563 0/6728 2/3835 - - - - - - -
?/? c.405C>T r.(=) p.(=) g.46949233C>T Copied from the Exome Variant Server RGN_000029 3/10563 3/6728 0/3835 - - - - - - -
?/? c.453C>G r.(?) p.(Asp151Glu) g.46949281C>G Copied from the Exome Variant Server RGN_000030 7/10563 6/6728 1/3835 - - - - - - -
?/? c.455T>A r.(?) p.(Ile152Asn) g.46949283T>A Copied from the Exome Variant Server RGN_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.460A>G r.(?) p.(Asn154Asp) g.46949288A>G Copied from the Exome Variant Server RGN_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.479T>C r.(?) p.(Leu160Pro) g.46949307T>C Copied from the Exome Variant Server RGN_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.535G>A r.(?) p.(Asp179Asn) g.46949363G>A Copied from the Exome Variant Server RGN_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.562+13C>T r.(=) p.(=) g.46949403C>T Copied from the Exome Variant Server RGN_000035 6111/10563 4079/6728 2032/3835 - - - - - - -
?/? c.563-50G>A r.(=) p.(=) g.46951027G>A Copied from the Exome Variant Server RGN_000036 2/10561 0/6727 2/3834 - - - - - - -
?/? c.563-42del r.(=) p.(=) g.46951035del Copied from the Exome Variant Server RGN_000037 16/10203 14/6484 2/3719 - - - - - - -
?/? c.569G>A r.(?) p.(Arg190His) g.46951083G>A Copied from the Exome Variant Server RGN_000038 4/10563 0/6728 4/3835 - - - - - - -
?/? c.606C>A r.(=) p.(=) g.46951120C>A Copied from the Exome Variant Server RGN_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.653G>A r.(?) p.(Cys218Tyr) g.46951167G>A Copied from the Exome Variant Server RGN_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.677G>T r.(?) p.(Arg226Leu) g.46951191G>T Copied from the Exome Variant Server RGN_000041 16/10563 0/6728 16/3835 - - - - - - -
?/? c.694+33A>G r.(=) p.(=) g.46951241A>G Copied from the Exome Variant Server RGN_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.774G>A r.(?) p.(Met258Ile) g.46951539G>A Copied from the Exome Variant Server RGN_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.796del r.(?) p.(Met267Trpfs*7) g.46951561del Copied from the Exome Variant Server RGN_000044 1/10203 1/6483 0/3720 - - - - - - -
?/? c.851T>C r.(?) p.(Ile284Thr) g.46952297T>C Copied from the Exome Variant Server RGN_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*7G>A r.(=) p.(=) g.46952353G>A Copied from the Exome Variant Server RGN_000046 101/10563 91/6728 10/3835 - - - - - - -
?/? c.*41A>G r.(=) p.(=) g.46952387A>G Copied from the Exome Variant Server RGN_000047 1/10561 0/6726 1/3835 - - - - - - -
?/? c.*52C>T r.(=) p.(=) g.46952398C>T Copied from the Exome Variant Server RGN_000048 441/6038 412/3621 29/2417 - - - - - - -
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