Full data view for gene RNF139

Information The variants shown are described using the NM_007218.3 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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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.-1C>T r.(=) p.(=) g.125487350C>T Copied from the Exome Variant Server RNF139_000001 1/9616 0/6564 1/3052 - - - - - - -
?/? c.5_6insG r.(?) p.(Ala3Glyfs*102) g.125487355_125487356insG Copied from the Exome Variant Server RNF139_000002 453/8716 278/5968 175/2748 - - - - - - -
?/? c.8dup r.(?) p.(Val4Argfs*101) g.125487358dup Copied from the Exome Variant Server RNF139_000003 328/9440 198/6476 130/2964 - - - - - - -
?/? c.9_10insG r.(?) p.(Val4Glyfs*101) g.125487359_125487360insG Copied from the Exome Variant Server RNF139_000004 343/9804 201/6688 142/3116 - - - - - - -
?/? c.11_12insG r.(?) p.(Pro6Alafs*99) g.125487361_125487362insG Copied from the Exome Variant Server RNF139_000005 421/10800 239/7268 182/3532 - - - - - - -
?/? c.64C>T r.(?) p.(Leu22Phe) g.125487414C>T Copied from the Exome Variant Server RNF139_000006 3/13006 0/8600 3/4406 - - - - - - -
?/? c.78C>T r.(=) p.(=) g.125487428C>T Copied from the Exome Variant Server RNF139_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.90C>T r.(=) p.(=) g.125487440C>T Copied from the Exome Variant Server RNF139_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.116A>G r.(?) p.(Asn39Ser) g.125487466A>G Copied from the Exome Variant Server RNF139_000012 2/13006 1/8600 1/4406 - - - - - - -
?/? c.135C>T r.(=) p.(=) g.125487485C>T Copied from the Exome Variant Server RNF139_000014 22/13006 0/8600 22/4406 - - - - - - -
?/? c.138A>G r.(=) p.(=) g.125487488A>G Copied from the Exome Variant Server RNF139_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.148T>A r.(?) p.(Cys50Ser) g.125487498T>A Copied from the Exome Variant Server RNF139_000009 3/13006 3/8600 0/4406 - - - - - - -
?/? c.169C>T r.(?) p.(Leu57Phe) g.125487519C>T Copied from the Exome Variant Server RNF139_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.177C>G r.(=) p.(=) g.125487527C>G Copied from the Exome Variant Server RNF139_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.181+37A>G r.(=) p.(=) g.125487568A>G Copied from the Exome Variant Server RNF139_000015 2/13006 0/8600 2/4406 - - - - - - -
?/? c.181+49A>G r.(=) p.(=) g.125487580A>G Copied from the Exome Variant Server RNF139_000016 20/13006 20/8600 0/4406 - - - - - - -
?/? c.182-18_182-15del r.(=) p.(=) g.125498054_125498057del Copied from the Exome Variant Server RNF139_000017 4/12516 3/8254 1/4262 - - - - - - -
?/? c.182-5T>A r.spl? p.? g.125498067T>A Copied from the Exome Variant Server RNF139_000018 1/13004 0/8600 1/4404 - - - - - - -
?/? c.213G>A r.(=) p.(=) g.125498103G>A Copied from the Exome Variant Server RNF139_000019 3/13002 3/8598 0/4404 - - - - - - -
?/? c.243G>C r.(=) p.(=) g.125498133G>C Copied from the Exome Variant Server RNF139_000020 7/13004 0/8600 7/4404 - - - - - - -
?/? c.339T>C r.(=) p.(=) g.125498229T>C Copied from the Exome Variant Server RNF139_000021 6/13006 0/8600 6/4406 - - - - - - -
?/? c.354G>C r.(=) p.(=) g.125498244G>C Copied from the Exome Variant Server RNF139_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.378G>C r.(=) p.(=) g.125498268G>C Copied from the Exome Variant Server RNF139_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.408A>G r.(=) p.(=) g.125498298A>G Copied from the Exome Variant Server RNF139_000024 11/13006 11/8600 0/4406 - - - - - - -
?/? c.429A>G r.(=) p.(=) g.125498319A>G Copied from the Exome Variant Server RNF139_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.433C>T r.(?) p.(Leu145Phe) g.125498323C>T Copied from the Exome Variant Server RNF139_000026 1/13004 1/8600 0/4404 - - - - - - -
?/? c.451T>C r.(?) p.(Tyr151His) g.125498341T>C Copied from the Exome Variant Server RNF139_000027 3/13006 0/8600 3/4406 - - - - - - -
?/? c.533T>C r.(?) p.(Leu178Ser) g.125498423T>C Copied from the Exome Variant Server RNF139_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.569C>T r.(?) p.(Thr190Ile) g.125498459C>T Copied from the Exome Variant Server RNF139_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.593T>G r.(?) p.(Leu198Arg) g.125498483T>G Copied from the Exome Variant Server RNF139_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.650G>A r.(?) p.(Arg217Gln) g.125498540G>A Copied from the Exome Variant Server RNF139_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.657C>T r.(=) p.(=) g.125498547C>T Copied from the Exome Variant Server RNF139_000032 7094/13006 3997/8600 3097/4406 - - - - - - -
?/? c.855C>T r.(=) p.(=) g.125498745C>T Copied from the Exome Variant Server RNF139_000033 7/13006 7/8600 0/4406 - - - - - - -
?/? c.957T>C r.(=) p.(=) g.125498847T>C Copied from the Exome Variant Server RNF139_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1035A>G r.(=) p.(=) g.125498925A>G Copied from the Exome Variant Server RNF139_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1145A>C r.(?) p.(His382Pro) g.125499035A>C Copied from the Exome Variant Server RNF139_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1181T>G r.(?) p.(Phe394Cys) g.125499071T>G Copied from the Exome Variant Server RNF139_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1182T>G r.(?) p.(Phe394Leu) g.125499072T>G Copied from the Exome Variant Server RNF139_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1201A>G r.(?) p.(Ile401Val) g.125499091A>G Copied from the Exome Variant Server RNF139_000039 12/13006 0/8600 12/4406 - - - - - - -
?/? c.1326G>A r.(=) p.(=) g.125499216G>A Copied from the Exome Variant Server RNF139_000040 56/13006 0/8600 56/4406 - - - - - - -
?/? c.1337T>C r.(?) p.(Ile446Thr) g.125499227T>C Copied from the Exome Variant Server RNF139_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1389C>T r.(=) p.(=) g.125499279C>T Copied from the Exome Variant Server RNF139_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1473G>A r.(=) p.(=) g.125499363G>A Copied from the Exome Variant Server RNF139_000043 883/13006 417/8600 466/4406 - - - - - - -
?/? c.1487G>A r.(?) p.(Arg496Gln) g.125499377G>A Copied from the Exome Variant Server RNF139_000044 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1569G>A r.(=) p.(=) g.125499459G>A Copied from the Exome Variant Server RNF139_000045 10/13006 0/8600 10/4406 - - - - - - -
?/? c.1616G>A r.(?) p.(Arg539His) g.125499506G>A Copied from the Exome Variant Server RNF139_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1638A>G r.(=) p.(=) g.125499528A>G Copied from the Exome Variant Server RNF139_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1665A>C r.(=) p.(=) g.125499555A>C Copied from the Exome Variant Server RNF139_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1686G>A r.(=) p.(=) g.125499576G>A Copied from the Exome Variant Server RNF139_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1730A>G r.(?) p.(Tyr577Cys) g.125499620A>G Copied from the Exome Variant Server RNF139_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1768T>C r.(?) p.(Tyr590His) g.125499658T>C Copied from the Exome Variant Server RNF139_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1774G>A r.(?) p.(Glu592Lys) g.125499664G>A Copied from the Exome Variant Server RNF139_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1781A>G r.(?) p.(Asp594Gly) g.125499671A>G Copied from the Exome Variant Server RNF139_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1788G>T r.(?) p.(Lys596Asn) g.125499678G>T Copied from the Exome Variant Server RNF139_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1801G>A r.(?) p.(Val601Ile) g.125499691G>A Copied from the Exome Variant Server RNF139_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1879A>C r.(=) p.(=) g.125499769A>C Copied from the Exome Variant Server RNF139_000056 31/13006 1/8600 30/4406 - - - - - - -
?/? c.1890C>T r.(=) p.(=) g.125499780C>T Copied from the Exome Variant Server RNF139_000058 70/13006 1/8600 69/4406 - - - - - - -
?/? c.1891G>A r.(?) p.(Glu631Lys) g.125499781G>A Copied from the Exome Variant Server RNF139_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1922T>A r.(?) p.(Val641Asp) g.125499812T>A Copied from the Exome Variant Server RNF139_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1943T>C r.(?) p.(Val648Ala) g.125499833T>C Copied from the Exome Variant Server RNF139_000063 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1946T>C r.(?) p.(Ile649Thr) g.125499836T>C Copied from the Exome Variant Server RNF139_000057 45/13004 0/8598 45/4406 - - - - - - -
?/? c.*31_*34del r.(=) p.(=) g.125499916_125499919del Copied from the Exome Variant Server RNF139_000059 4/12490 4/8236 0/4254 - - - - - - -
?/? c.*33dup r.(=) p.(=) g.125499918dup Copied from the Exome Variant Server RNF139_000061 1/12490 0/8236 1/4254 - - - - - - -
?/? c.*932G>A r.(=) p.(=) g.125500817G>A Copied from the Exome Variant Server TATDN1_000001 1/12922 1/8528 0/4394 - - - - - - -
?/? c.*961_*962insA r.(?) p.(Pro295Serfs*24) g.125500846_125500847insA Copied from the Exome Variant Server TATDN1_000002 4/12436 0/8190 4/4246 - - - - - - -
?/? c.*966A>G r.(?) p.(Phe293Ser) g.125500851A>G Copied from the Exome Variant Server TATDN1_000003 1/12948 1/8556 0/4392 - - - - - - -
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