Full data view for gene RIPK3

Information The variants shown are described using the NM_006871.3 transcript reference sequence.

108 entries on 2 pages. Showing entries 1 - 100.
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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.-89C>A r.(=) p.(=) g.24809121G>T Copied from the Exome Variant Server RIPK3_000108 1/4566 1/3182 0/1384 - - - - - - -
?/? c.9C>A r.(?) p.(Cys3*) g.24809024G>T Copied from the Exome Variant Server RIPK3_000107 1/13006 1/8600 0/4406 - - - - - - -
?/? c.20+52A>C r.(=) p.(=) g.24808961T>G Copied from the Exome Variant Server RIPK3_000106 962/10300 351/7164 611/3136 - - - - - - -
?/? c.20+75A>T r.(=) p.(=) g.24808938T>A Copied from the Exome Variant Server RIPK3_000105 1/4566 1/3182 0/1384 - - - - - - -
?/? c.20+77G>A r.(=) p.(=) g.24808936C>T Copied from the Exome Variant Server RIPK3_000104 318/4566 140/3182 178/1384 - - - - - - -
?/? c.20+83G>C r.(=) p.(=) g.24808930C>G Copied from the Exome Variant Server RIPK3_000103 22/4566 19/3182 3/1384 - - - - - - -
?/? c.20+89G>A r.(=) p.(=) g.24808924C>T Copied from the Exome Variant Server RIPK3_000102 421/4566 145/3182 276/1384 - - - - - - -
?/? c.21-51G>C r.(=) p.(=) g.24808854C>G Copied from the Exome Variant Server RIPK3_000101 1/12994 0/8594 1/4400 - - - - - - -
?/? c.21-39C>T r.(=) p.(=) g.24808842G>A Copied from the Exome Variant Server RIPK3_000100 903/13000 389/8596 514/4404 - - - - - - -
?/? c.21-7C>A r.(=) p.(=) g.24808810G>T Copied from the Exome Variant Server RIPK3_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.35C>G r.(?) p.(Pro12Arg) g.24808789G>C Copied from the Exome Variant Server RIPK3_000098 2/13006 0/8600 2/4406 - - - - - - -
?/? c.42C>T r.(=) p.(=) g.24808782G>A Copied from the Exome Variant Server RIPK3_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.51C>T r.(=) p.(=) g.24808773G>A Copied from the Exome Variant Server RIPK3_000096 3/13006 0/8600 3/4406 - - - - - - -
?/? c.53T>C r.(?) p.(Ile18Thr) g.24808771A>G Copied from the Exome Variant Server RIPK3_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.121A>C r.(=) p.(=) g.24808703T>G Copied from the Exome Variant Server RIPK3_000094 7/13006 0/8600 7/4406 - - - - - - -
?/? c.123G>A r.(=) p.(=) g.24808701C>T Copied from the Exome Variant Server RIPK3_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.143C>T r.(?) p.(Ala48Val) g.24808681G>A Copied from the Exome Variant Server RIPK3_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.159C>T r.(=) p.(=) g.24808665G>A Copied from the Exome Variant Server RIPK3_000091 4/13006 0/8600 4/4406 - - - - - - -
?/? c.161+12del r.(=) p.(=) g.24808651del Copied from the Exome Variant Server RIPK3_000090 24/12516 15/8254 9/4262 - - - - - - -
?/? c.161+16T>C r.(=) p.(=) g.24808647A>G Copied from the Exome Variant Server RIPK3_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.161+50C>T r.(=) p.(=) g.24808613G>A Copied from the Exome Variant Server RIPK3_000088 27/13006 20/8600 7/4406 - - - - - - -
?/? c.162-51A>T r.(=) p.(=) g.24808581T>A Copied from the Exome Variant Server RIPK3_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.162-21del r.(=) p.(=) g.24808551del Copied from the Exome Variant Server RIPK3_000086 3/12518 3/8254 0/4264 - - - - - - -
?/? c.162-9G>T r.(=) p.(=) g.24808539C>A Copied from the Exome Variant Server RIPK3_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.190A>G r.(?) p.(Met64Val) g.24808502T>C Copied from the Exome Variant Server RIPK3_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.211T>C r.(?) p.(Phe71Leu) g.24808481A>G Copied from the Exome Variant Server RIPK3_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.214G>A r.(?) p.(Val72Met) g.24808478C>T Copied from the Exome Variant Server RIPK3_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.218T>C r.(?) p.(Leu73Pro) g.24808474A>G Copied from the Exome Variant Server RIPK3_000081 2/13006 2/8600 0/4406 - - - - - - -
?/? c.226G>T r.(?) p.(Glu76*) g.24808466C>A Copied from the Exome Variant Server RIPK3_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.230G>T r.(?) p.(Gly77Val) g.24808462C>A Copied from the Exome Variant Server RIPK3_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.262C>T r.(?) p.(Pro88Ser) g.24808430G>A Copied from the Exome Variant Server RIPK3_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.303C>A r.(=) p.(=) g.24808389G>T Copied from the Exome Variant Server RIPK3_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.304T>C r.(=) p.(=) g.24808388A>G Copied from the Exome Variant Server RIPK3_000076 940/13006 416/8600 524/4406 - - - - - - -
?/? c.367G>T r.(?) p.(Glu123*) g.24808325C>A Copied from the Exome Variant Server RIPK3_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.397G>C r.(?) p.(Asp133His) g.24808295C>G Copied from the Exome Variant Server RIPK3_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.408G>A r.(=) p.(=) g.24808284C>T Copied from the Exome Variant Server RIPK3_000073 11/13004 0/8600 11/4404 - - - - - - -
?/? c.409G>A r.(?) p.(Val137Met) g.24808283C>T Copied from the Exome Variant Server RIPK3_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.449T>C r.(?) p.(Leu150Pro) g.24808243A>G Copied from the Exome Variant Server RIPK3_000071 2/12946 0/8570 2/4376 - - - - - - -
?/? c.471+6C>G r.(=) p.(=) g.24808215G>C Copied from the Exome Variant Server RIPK3_000070 6/12914 0/8558 6/4356 - - - - - - -
?/? c.471+44G>C r.(=) p.(=) g.24808177C>G Copied from the Exome Variant Server RIPK3_000069 1/12702 0/8474 1/4228 - - - - - - -
?/? c.472-41C>G r.(=) p.(=) g.24807814G>C Copied from the Exome Variant Server RIPK3_000068 5/12994 5/8594 0/4400 - - - - - - -
?/? c.516A>T r.(=) p.(=) g.24807729T>A Copied from the Exome Variant Server RIPK3_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.610G>A r.(?) p.(Val204Ile) g.24807635C>T Copied from the Exome Variant Server RIPK3_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.617+12G>A r.(=) p.(=) g.24807616C>T Copied from the Exome Variant Server RIPK3_000065 118/13006 0/8600 118/4406 - - - - - - -
?/? c.617+24C>T r.(=) p.(=) g.24807604G>A Copied from the Exome Variant Server RIPK3_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.617+25A>T r.(=) p.(=) g.24807603T>A Copied from the Exome Variant Server RIPK3_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.617+41C>T r.(=) p.(=) g.24807587G>A Copied from the Exome Variant Server RIPK3_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.618-49G>A r.(=) p.(=) g.24807550C>T Copied from the Exome Variant Server RIPK3_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.621C>T r.(=) p.(=) g.24807498G>A Copied from the Exome Variant Server RIPK3_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.664+1G>A r.spl? p.? g.24807454C>T Copied from the Exome Variant Server RIPK3_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.664+34C>T r.(=) p.(=) g.24807421G>A Copied from the Exome Variant Server RIPK3_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.664+39G>C r.(=) p.(=) g.24807416C>G Copied from the Exome Variant Server RIPK3_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.664+43C>T r.(=) p.(=) g.24807412G>A Copied from the Exome Variant Server RIPK3_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.665-47C>T r.(=) p.(=) g.24807293G>A Copied from the Exome Variant Server RIPK3_000055 2/13004 0/8598 2/4406 - - - - - - -
?/? c.684C>T r.(=) p.(=) g.24807227G>A Copied from the Exome Variant Server RIPK3_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.685G>A r.(?) p.(Val229Met) g.24807226C>T Copied from the Exome Variant Server RIPK3_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.690C>T r.(=) p.(=) g.24807221G>A Copied from the Exome Variant Server RIPK3_000052 847/13006 409/8600 438/4406 - - - - - - -
?/? c.713A>G r.(?) p.(Asn238Ser) g.24807198T>C Copied from the Exome Variant Server RIPK3_000051 3/13006 3/8600 0/4406 - - - - - - -
?/? c.715C>T r.(?) p.(Arg239Trp) g.24807196G>A Copied from the Exome Variant Server RIPK3_000050 2/13006 1/8600 1/4406 - - - - - - -
?/? c.716G>A r.(?) p.(Arg239Gln) g.24807195C>T Copied from the Exome Variant Server RIPK3_000049 5/13006 1/8600 4/4406 - - - - - - -
?/? c.744C>T r.(=) p.(=) g.24807167G>A Copied from the Exome Variant Server RIPK3_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.747del r.(?) p.(Pro250Leufs*6) g.24807164del Copied from the Exome Variant Server RIPK3_000047 7/12518 4/8254 3/4264 - - - - - - -
?/? c.779A>T r.(?) p.(Glu260Val) g.24807132T>A Copied from the Exome Variant Server RIPK3_000046 25/13006 0/8600 25/4406 - - - - - - -
?/? c.803G>A r.(?) p.(Ser268Asn) g.24807108C>T Copied from the Exome Variant Server RIPK3_000045 4/13006 3/8600 1/4406 - - - - - - -
?/? c.832+47G>T r.(=) p.(=) g.24807032C>A Copied from the Exome Variant Server RIPK3_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.832+51G>A r.(=) p.(=) g.24807028C>T Copied from the Exome Variant Server RIPK3_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.832+54G>A r.(=) p.(=) g.24807025C>T Copied from the Exome Variant Server RIPK3_000042 6/4566 0/3182 6/1384 - - - - - - -
?/? c.833-39_833-37del r.(=) p.(=) g.24807005_24807007del Copied from the Exome Variant Server RIPK3_000041 16/12514 8/8252 8/4262 - - - - - - -
?/? c.841C>T r.(?) p.(Pro281Ser) g.24806960G>A Copied from the Exome Variant Server RIPK3_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.899C>T r.(?) p.(Thr300Met) g.24806902G>A Copied from the Exome Variant Server RIPK3_000039 846/13006 409/8600 437/4406 - - - - - - -
?/? c.900+49G>A r.(=) p.(=) g.24806852C>T Copied from the Exome Variant Server RIPK3_000038 848/13006 410/8600 438/4406 - - - - - - -
?/? c.900+51G>A r.(=) p.(=) g.24806850C>T Copied from the Exome Variant Server RIPK3_000037 5/13006 5/8600 0/4406 - - - - - - -
?/? c.900+101C>G r.(=) p.(=) g.24806800G>C Copied from the Exome Variant Server RIPK3_000036 2845/5734 2288/3982 557/1752 - - - - - - -
?/? c.901-102C>G r.(=) p.(=) g.24806768G>C Copied from the Exome Variant Server RIPK3_000035 3/5734 0/3982 3/1752 - - - - - - -
?/? c.901-94T>A r.(=) p.(=) g.24806760A>T Copied from the Exome Variant Server RIPK3_000034 4/5734 4/3982 0/1752 - - - - - - -
?/? c.913C>G r.(?) p.(Leu305Val) g.24806654G>C Copied from the Exome Variant Server RIPK3_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.934A>G r.(?) p.(Asn312Asp) g.24806633T>C Copied from the Exome Variant Server RIPK3_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.938G>A r.(?) p.(Arg313Lys) g.24806629C>T Copied from the Exome Variant Server RIPK3_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.953C>T r.(?) p.(Pro318Leu) g.24806614G>A Copied from the Exome Variant Server RIPK3_000030 19/13006 18/8600 1/4406 - - - - - - -
?/? c.958T>C r.(?) p.(Ser320Pro) g.24806609A>G Copied from the Exome Variant Server RIPK3_000029 3/13006 0/8600 3/4406 - - - - - - -
?/? c.960A>T r.(=) p.(=) g.24806607T>A Copied from the Exome Variant Server RIPK3_000028 6/13006 6/8600 0/4406 - - - - - - -
?/? c.987C>G r.(=) p.(=) g.24806580G>C Copied from the Exome Variant Server RIPK3_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1019G>A r.(?) p.(Arg340His) g.24806548C>T Copied from the Exome Variant Server RIPK3_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1054C>T r.(=) p.(=) g.24806513G>A Copied from the Exome Variant Server RIPK3_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1134G>C r.(?) p.(Gln378His) g.24806433C>G Copied from the Exome Variant Server RIPK3_000024 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1137T>G r.(=) p.(=) g.24806430A>C Copied from the Exome Variant Server RIPK3_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1201A>T r.(?) p.(Thr401Ser) g.24806366T>A Copied from the Exome Variant Server RIPK3_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1236C>T r.(=) p.(=) g.24806331G>A Copied from the Exome Variant Server RIPK3_000021 29/13006 0/8600 29/4406 - - - - - - -
?/? c.1261C>A r.(?) p.(Pro421Thr) g.24806306G>T Copied from the Exome Variant Server RIPK3_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1264C>T r.(?) p.(Arg422*) g.24806303G>A Copied from the Exome Variant Server RIPK3_000019 24/13006 21/8600 3/4406 - - - - - - -
?/? c.1267G>A r.(?) p.(Gly423Arg) g.24806300C>T Copied from the Exome Variant Server RIPK3_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1276-24C>T r.(=) p.(=) g.24806175G>A Copied from the Exome Variant Server RIPK3_000017 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1277G>A r.(?) p.(Gly426Glu) g.24806150C>T Copied from the Exome Variant Server RIPK3_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1315C>G r.(?) p.(Pro439Ala) g.24806112G>C Copied from the Exome Variant Server RIPK3_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1318G>T r.(?) p.(Glu440*) g.24806109C>A Copied from the Exome Variant Server RIPK3_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1347C>T r.(=) p.(=) g.24805591G>A Copied from the Exome Variant Server RIPK3_000013 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1378G>A r.(?) p.(Val460Ile) g.24805560C>T Copied from the Exome Variant Server RIPK3_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1386C>T r.(=) p.(=) g.24805552G>A Copied from the Exome Variant Server RIPK3_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1408_1421del r.(?) p.(Gln470Alafs*27) g.24805517_24805530del Copied from the Exome Variant Server RIPK3_000010 2/12518 2/8254 0/4264 - - - - - - -
?/? c.1439C>G r.(?) p.(Ala480Gly) g.24805499G>C Copied from the Exome Variant Server RIPK3_000009 1/13006 0/8600 1/4406 - - - - - - -
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