Full data view for gene RASSF5

Information The variants shown are described using the NM_182663.2 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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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.48A>C r.(=) p.(=) g.206680983A>C Copied from the Exome Variant Server RASSF5_000001 8453/9516 5574/6556 2879/2960 - - - - - - -
?/? c.109del r.(?) p.(Asp39Thrfs*127) g.206681044del Copied from the Exome Variant Server RASSF5_000002 5/7116 5/5014 0/2102 - - - - - - -
?/? c.163del r.(?) p.(Ala56Argfs*110) g.206681098del Copied from the Exome Variant Server RASSF5_000003 3/3592 2/2554 1/1038 - - - - - - -
?/? c.388C>T r.(=) p.(=) g.206681323C>T Copied from the Exome Variant Server RASSF5_000004 353/11264 1/7484 352/3780 - - - - - - -
?/? c.448C>T r.(?) p.(Arg150Cys) g.206681383C>T Copied from the Exome Variant Server RASSF5_000005 242/10684 4/7114 238/3570 - - - - - - -
?/? c.458-48G>A r.(=) p.(=) g.206711453G>A Copied from the Exome Variant Server RASSF5_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.465A>G r.(=) p.(=) g.206711508A>G Copied from the Exome Variant Server RASSF5_000007 38/13006 0/8600 38/4406 - - - - - - -
?/? c.547C>T r.(?) p.(Pro183Ser) g.206711590C>T Copied from the Exome Variant Server RASSF5_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.564C>T r.(=) p.(=) g.206711607C>T Copied from the Exome Variant Server RASSF5_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.565G>A r.(?) p.(Val189Met) g.206711608G>A Copied from the Exome Variant Server RASSF5_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.567G>A r.(=) p.(=) g.206711610G>A Copied from the Exome Variant Server RASSF5_000011 281/13006 254/8600 27/4406 - - - - - - -
?/? c.569C>T r.(?) p.(Thr190Ile) g.206711612C>T Copied from the Exome Variant Server RASSF5_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.579+19G>A r.(=) p.(=) g.206711641G>A Copied from the Exome Variant Server RASSF5_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.579+25A>G r.(=) p.(=) g.206711647A>G Copied from the Exome Variant Server RASSF5_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.579+52_579+53insG r.(=) p.(=) g.206711674_206711675insG Copied from the Exome Variant Server RASSF5_000015 54/12518 51/8254 3/4264 - - - - - - -
?/? c.579+19231C>G r.(=) p.(=) g.206730853C>G Copied from the Exome Variant Server RASSF5_000016 8/12998 0/8598 8/4400 - - - - - - -
?/? c.579+19291C>T r.(=) p.(=) g.206730913C>T Copied from the Exome Variant Server RASSF5_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.579+19434G>C r.(=) p.(=) g.206731056G>C Copied from the Exome Variant Server RASSF5_000019 8/13006 8/8600 0/4406 - - - - - - -
?/? c.579+19438G>A r.(=) p.(=) g.206731060G>A Copied from the Exome Variant Server RASSF5_000021 334/13006 2/8600 332/4406 - - - - - - -
?/? c.579+19439G>T r.(=) p.(=) g.206731061G>T Copied from the Exome Variant Server RASSF5_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.580-40_580-38del r.(=) p.(=) g.206756561_206756563del Copied from the Exome Variant Server RASSF5_000025 1/12520 1/8254 0/4266 - - - - - - -
?/? c.610C>T r.(?) p.(Arg204Cys) g.206756631C>T Copied from the Exome Variant Server RASSF5_000027 2/13006 2/8600 0/4406 - - - - - - -
?/? c.615G>A r.(=) p.(=) g.206756636G>A Copied from the Exome Variant Server RASSF5_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.661C>T r.(?) p.(Arg221*) g.206756682C>T Copied from the Exome Variant Server RASSF5_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.666G>A r.(=) p.(=) g.206756687G>A Copied from the Exome Variant Server RASSF5_000032 4/13006 4/8600 0/4406 - - - - - - -
?/? c.690+11G>A r.(=) p.(=) g.206756722G>A Copied from the Exome Variant Server RASSF5_000034 1/13002 1/8600 0/4402 - - - - - - -
?/? c.690+22A>G r.(=) p.(=) g.206756733A>G Copied from the Exome Variant Server RASSF5_000018 49/13004 0/8600 49/4404 - - - - - - -
?/? c.690+44C>T r.(=) p.(=) g.206756755C>T Copied from the Exome Variant Server RASSF5_000020 1/13002 0/8598 1/4404 - - - - - - -
?/? c.690+45G>A r.(=) p.(=) g.206756756G>A Copied from the Exome Variant Server RASSF5_000022 1/13002 1/8598 0/4404 - - - - - - -
?/? c.690+50G>A r.(=) p.(=) g.206756761G>A Copied from the Exome Variant Server RASSF5_000024 4/13002 4/8598 0/4404 - - - - - - -
?/? c.691-40C>T r.(=) p.(=) g.206757679C>T Copied from the Exome Variant Server RASSF5_000026 2/12998 2/8596 0/4402 - - - - - - -
?/? c.691-7C>G r.(=) p.(=) g.206757712C>G Copied from the Exome Variant Server RASSF5_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.711G>A r.(=) p.(=) g.206757739G>A Copied from the Exome Variant Server RASSF5_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.739C>T r.(?) p.(Arg247Trp) g.206757767C>T Copied from the Exome Variant Server RASSF5_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.740G>T r.(?) p.(Arg247Leu) g.206757768G>T Copied from the Exome Variant Server RASSF5_000035 4/13006 0/8600 4/4406 - - - - - - -
?/? c.750G>A r.(=) p.(=) g.206757778G>A Copied from the Exome Variant Server RASSF5_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.753G>C r.(=) p.(=) g.206757781G>C Copied from the Exome Variant Server RASSF5_000037 2/13006 0/8600 2/4406 - - - - - - -
?/? c.813G>A r.(=) p.(=) g.206757841G>A Copied from the Exome Variant Server RASSF5_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.821C>T r.(?) p.(Thr274Met) g.206757849C>T Copied from the Exome Variant Server RASSF5_000039 6/13006 3/8600 3/4406 - - - - - - -
?/? c.829C>A r.(=) p.(=) g.206757857C>A Copied from the Exome Variant Server RASSF5_000040 1043/13006 487/8600 556/4406 - - - - - - -
?/? c.885C>T r.(=) p.(=) g.206757913C>T Copied from the Exome Variant Server RASSF5_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.907C>G r.(?) p.(Gln303Glu) g.206757935C>G Copied from the Exome Variant Server RASSF5_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.948G>C r.(?) p.(Gln316His) g.206757976G>C Copied from the Exome Variant Server RASSF5_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.982G>A r.(?) p.(Gly328Arg) g.206758010G>A Copied from the Exome Variant Server RASSF5_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.988+11G>C r.(=) p.(=) g.206758027G>C Copied from the Exome Variant Server RASSF5_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.988+17A>C r.(=) p.(=) g.206758033A>C Copied from the Exome Variant Server RASSF5_000046 2/13006 2/8600 0/4406 - - - - - - -
?/? c.988+38_988+41del r.(=) p.(=) g.206758054_206758057del Copied from the Exome Variant Server RASSF5_000047 1/12518 1/8254 0/4264 - - - - - - -
?/? c.989-50C>T r.(=) p.(=) g.206758462C>T Copied from the Exome Variant Server RASSF5_000048 9/13006 0/8600 9/4406 - - - - - - -
?/? c.989-48G>A r.(=) p.(=) g.206758464G>A Copied from the Exome Variant Server RASSF5_000049 2/13006 2/8600 0/4406 - - - - - - -
?/? c.989-19A>C r.(=) p.(=) g.206758493A>C Copied from the Exome Variant Server RASSF5_000050 154/13006 2/8600 152/4406 - - - - - - -
?/? c.1007C>T r.(?) p.(Ser336Phe) g.206758530C>T Copied from the Exome Variant Server RASSF5_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1056G>A r.(=) p.(=) g.206758579G>A Copied from the Exome Variant Server RASSF5_000052 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1104+21C>A r.(=) p.(=) g.206758648C>A Copied from the Exome Variant Server RASSF5_000053 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1105-25C>G r.(=) p.(=) g.206760133C>G Copied from the Exome Variant Server RASSF5_000054 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1105-10C>T r.(=) p.(=) g.206760148C>T Copied from the Exome Variant Server RASSF5_000055 35/13006 26/8600 9/4406 - - - - - - -
?/? c.1105-9G>A r.(=) p.(=) g.206760149G>A Copied from the Exome Variant Server RASSF5_000056 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1105-4A>G r.spl? p.? g.206760154A>G Copied from the Exome Variant Server RASSF5_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1118C>G r.(?) p.(Ser373Cys) g.206760171C>G Copied from the Exome Variant Server RASSF5_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1124C>G r.(?) p.(Pro375Arg) g.206760177C>G Copied from the Exome Variant Server RASSF5_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1136A>C r.(?) p.(Asn379Thr) g.206760189A>C Copied from the Exome Variant Server RASSF5_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1223A>C r.(?) p.(Glu408Ala) g.206760276A>C Copied from the Exome Variant Server RASSF5_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*28C>T r.(=) p.(=) g.206760338C>T Copied from the Exome Variant Server RASSF5_000062 4/13006 0/8600 4/4406 - - - - - - -
?/? c.*43_*44insT r.(=) p.(=) g.206760353_206760354insT Copied from the Exome Variant Server RASSF5_000063 1/12506 1/8242 0/4264 - - - - - - -
?/? c.*45A>G r.(=) p.(=) g.206760355A>G Copied from the Exome Variant Server RASSF5_000064 1/12994 0/8590 1/4404 - - - - - - -
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