Full data view for gene REPS2

Information The variants shown are described using the NM_004726.2 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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.215C>T r.(?) p.(Ala72Val) g.16965199C>T Copied from the Exome Variant Server REPS2_000001 3/6257 0/4227 3/2030 - - - - - - -
?/? c.319A>G r.(?) p.(Thr107Ala) g.17024389A>G Copied from the Exome Variant Server REPS2_000002 1/9669 1/6441 0/3228 - - - - - - -
?/? c.352G>A r.(?) p.(Ala118Thr) g.17024422G>A Copied from the Exome Variant Server REPS2_000003 1/9633 1/6433 0/3200 - - - - - - -
?/? c.397+44G>A r.(=) p.(=) g.17024511G>A Copied from the Exome Variant Server REPS2_000004 1/9539 1/6399 0/3140 - - - - - - -
?/? c.398-19C>G r.(=) p.(=) g.17040227C>G Copied from the Exome Variant Server REPS2_000005 140/10562 1/6727 139/3835 - - - - - - -
?/? c.398-6C>A r.(=) p.(=) g.17040240C>A Copied from the Exome Variant Server REPS2_000006 1/10562 0/6727 1/3835 - - - - - - -
?/? c.457C>G r.(?) p.(Pro153Ala) g.17040305C>G Copied from the Exome Variant Server REPS2_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.504A>G r.(=) p.(=) g.17040352A>G Copied from the Exome Variant Server REPS2_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.546+47C>T r.(=) p.(=) g.17040441C>T Copied from the Exome Variant Server REPS2_000009 6/10562 0/6727 6/3835 - - - - - - -
?/? c.546+50A>T r.(=) p.(=) g.17040444A>T Copied from the Exome Variant Server REPS2_000010 1/10560 1/6725 0/3835 - - - - - - -
?/? c.547-36G>A r.(=) p.(=) g.17043146G>A Copied from the Exome Variant Server REPS2_000011 3/10563 3/6728 0/3835 - - - - - - -
?/? c.558G>A r.(=) p.(=) g.17043193G>A Copied from the Exome Variant Server REPS2_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.575C>G r.(?) p.(Pro192Arg) g.17043210C>G Copied from the Exome Variant Server REPS2_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.579C>T r.(=) p.(=) g.17043214C>T Copied from the Exome Variant Server REPS2_000014 9/10563 1/6728 8/3835 - - - - - - -
?/? c.599C>T r.(?) p.(Pro200Leu) g.17043234C>T Copied from the Exome Variant Server REPS2_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.642A>G r.(=) p.(=) g.17043277A>G Copied from the Exome Variant Server REPS2_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.646C>T r.(?) p.(Arg216Trp) g.17043281C>T Copied from the Exome Variant Server REPS2_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.650G>C r.(?) p.(Ser217Thr) g.17043285G>C Copied from the Exome Variant Server REPS2_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.657A>G r.(=) p.(=) g.17043292A>G Copied from the Exome Variant Server REPS2_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.673+49T>G r.(=) p.(=) g.17043357T>G Copied from the Exome Variant Server REPS2_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.700G>T r.(?) p.(Val234Phe) g.17047675G>T Copied from the Exome Variant Server REPS2_000021 11/10563 11/6728 0/3835 - - - - - - -
?/? c.708C>T r.(=) p.(=) g.17047683C>T Copied from the Exome Variant Server REPS2_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.709G>A r.(?) p.(Glu237Lys) g.17047684G>A Copied from the Exome Variant Server REPS2_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.722C>T r.(?) p.(Ser241Leu) g.17047697C>T Copied from the Exome Variant Server REPS2_000024 9/10563 0/6728 9/3835 - - - - - - -
?/? c.748C>T r.(?) p.(Arg250Trp) g.17047723C>T Copied from the Exome Variant Server REPS2_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.763C>T r.(?) p.(Leu255Phe) g.17047738C>T Copied from the Exome Variant Server REPS2_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.850G>A r.(?) p.(Glu284Lys) g.17065548G>A Copied from the Exome Variant Server REPS2_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.907+28C>G r.(=) p.(=) g.17065633C>G Copied from the Exome Variant Server REPS2_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1000G>A r.(?) p.(Ala334Thr) g.17072959G>A Copied from the Exome Variant Server REPS2_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1059C>T r.(=) p.(=) g.17073018C>T Copied from the Exome Variant Server REPS2_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1114+6G>A r.(=) p.(=) g.17073079G>A Copied from the Exome Variant Server REPS2_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1114+19C>T r.(=) p.(=) g.17073092C>T Copied from the Exome Variant Server REPS2_000032 1889/10563 1714/6728 175/3835 - - - - - - -
?/? c.1114+50G>A r.(=) p.(=) g.17073123G>A Copied from the Exome Variant Server REPS2_000033 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1115-39T>C r.(=) p.(=) g.17080522T>C Copied from the Exome Variant Server REPS2_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1115-27T>C r.(=) p.(=) g.17080534T>C Copied from the Exome Variant Server REPS2_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1115-15T>G r.(=) p.(=) g.17080546T>G Copied from the Exome Variant Server REPS2_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1122T>G r.(=) p.(=) g.17080568T>G Copied from the Exome Variant Server REPS2_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1143A>G r.(=) p.(=) g.17080589A>G Copied from the Exome Variant Server REPS2_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1172C>T r.(?) p.(Pro391Leu) g.17080618C>T Copied from the Exome Variant Server REPS2_000039 15/10563 13/6728 2/3835 - - - - - - -
?/? c.1176A>G r.(=) p.(=) g.17080622A>G Copied from the Exome Variant Server REPS2_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1202G>A r.(?) p.(Arg401Gln) g.17080648G>A Copied from the Exome Variant Server REPS2_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1210-57C>T r.(=) p.(=) g.17086468C>T Copied from the Exome Variant Server REPS2_000042 6/3600 4/2391 2/1209 - - - - - - -
?/? c.1210-54A>G r.(=) p.(=) g.17086471A>G Copied from the Exome Variant Server REPS2_000043 1/3600 1/2391 0/1209 - - - - - - -
?/? c.1210-40G>A r.(=) p.(=) g.17086485G>A Copied from the Exome Variant Server REPS2_000044 1/10560 0/6727 1/3833 - - - - - - -
?/? c.1233T>C r.(=) p.(=) g.17086548T>C Copied from the Exome Variant Server REPS2_000045 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1279+32A>G r.(=) p.(=) g.17086626A>G Copied from the Exome Variant Server REPS2_000046 1/10561 0/6727 1/3834 - - - - - - -
?/? c.1280-52del r.(=) p.(=) g.17088011del Copied from the Exome Variant Server REPS2_000047 86/10097 60/6411 26/3686 - - - - - - -
?/? c.1294A>G r.(?) p.(Ile432Val) g.17088077A>G Copied from the Exome Variant Server REPS2_000048 6/10556 0/6721 6/3835 - - - - - - -
?/? c.1318G>A r.(?) p.(Val440Met) g.17088101G>A Copied from the Exome Variant Server REPS2_000049 1/10557 0/6722 1/3835 - - - - - - -
?/? c.1334-15A>G r.(=) p.(=) g.17092222A>G Copied from the Exome Variant Server REPS2_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1379+37T>A r.(=) p.(=) g.17092319T>A Copied from the Exome Variant Server REPS2_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1380-43A>G r.(=) p.(=) g.17095351A>G Copied from the Exome Variant Server REPS2_000052 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1422C>T r.(=) p.(=) g.17095436C>T Copied from the Exome Variant Server REPS2_000053 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1516+24G>A r.(=) p.(=) g.17095554G>A Copied from the Exome Variant Server REPS2_000054 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1516+51G>A r.(=) p.(=) g.17095581G>A Copied from the Exome Variant Server REPS2_000055 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1517-38G>T r.(=) p.(=) g.17121803G>T Copied from the Exome Variant Server REPS2_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1517-16G>T r.(=) p.(=) g.17121825G>T Copied from the Exome Variant Server REPS2_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1539C>T r.(=) p.(=) g.17121863C>T Copied from the Exome Variant Server REPS2_000058 12/10563 0/6728 12/3835 - - - - - - -
?/? c.1542A>G r.(=) p.(=) g.17121866A>G Copied from the Exome Variant Server REPS2_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1579-23C>G r.(=) p.(=) g.17151924C>G Copied from the Exome Variant Server REPS2_000060 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1579-21C>T r.(=) p.(=) g.17151926C>T Copied from the Exome Variant Server REPS2_000061 72/10562 0/6727 72/3835 - - - - - - -
?/? c.1590G>A r.(=) p.(=) g.17151958G>A Copied from the Exome Variant Server REPS2_000062 5/10562 0/6727 5/3835 - - - - - - -
?/? c.1600G>A r.(?) p.(Glu534Lys) g.17151968G>A Copied from the Exome Variant Server REPS2_000063 2/10562 2/6727 0/3835 - - - - - - -
?/? c.1662+38G>A r.(=) p.(=) g.17152068G>A Copied from the Exome Variant Server REPS2_000064 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1662+49C>A r.(=) p.(=) g.17152079C>A Copied from the Exome Variant Server REPS2_000065 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1662+50G>A r.(=) p.(=) g.17152080G>A Copied from the Exome Variant Server REPS2_000066 8/10562 0/6727 8/3835 - - - - - - -
?/? c.1663-39_1663-38insT r.(=) p.(=) g.17153345_17153346insT Copied from the Exome Variant Server REPS2_000067 7/10199 1/6482 6/3717 - - - - - - -
?/? c.1744C>G r.(?) p.(Pro582Ala) g.17153465C>G Copied from the Exome Variant Server REPS2_000068 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1769C>T r.(?) p.(Ala590Val) g.17153490C>T Copied from the Exome Variant Server REPS2_000069 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1784T>C r.(?) p.(Met595Thr) g.17153505T>C Copied from the Exome Variant Server REPS2_000070 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1808+41C>A r.(=) p.(=) g.17153570C>A Copied from the Exome Variant Server REPS2_000071 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1808+48A>T r.(=) p.(=) g.17153577A>T Copied from the Exome Variant Server REPS2_000072 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1808+51T>C r.(=) p.(=) g.17153580T>C Copied from the Exome Variant Server REPS2_000073 325/10562 3/6727 322/3835 - - - - - - -
?/? c.1857T>C r.(=) p.(=) g.17157027T>C Copied from the Exome Variant Server REPS2_000074 32/10562 31/6727 1/3835 - - - - - - -
?/? c.1907A>T r.(?) p.(Gln636Leu) g.17157077A>T Copied from the Exome Variant Server REPS2_000075 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1914+21T>G r.(=) p.(=) g.17157105T>G Copied from the Exome Variant Server REPS2_000076 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1915-27G>A r.(=) p.(=) g.17165509G>A Copied from the Exome Variant Server REPS2_000077 2/10562 2/6727 0/3835 - - - - - - -
?/? c.*36T>C r.(=) p.(=) g.17165640T>C Copied from the Exome Variant Server REPS2_000078 2/10562 0/6727 2/3835 - - - - - - -
?/? c.*1388A>G r.(=) p.(=) g.17166992A>G Copied from the Exome Variant Server REPS2_000079 1/4524 0/3107 1/1417 - - - - - - -
?/? c.*1525T>C r.(=) p.(=) g.17167129T>C Copied from the Exome Variant Server REPS2_000080 5/4525 0/3107 5/1418 - - - - - - -
Legend