Full data view for gene SSR2

Information The variants shown are described using the NM_003145.3 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.1-10T>C r.(=) p.(=) g.155989968A>G Copied from the Exome Variant Server SSR2_000045 10/13006 0/8600 10/4406 - - - - - - -
?/? c.2T>A r.? p.? g.155989957A>T Copied from the Exome Variant Server SSR2_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.31C>T r.(=) p.(=) g.155989928G>A Copied from the Exome Variant Server SSR2_000043 3/13006 0/8600 3/4406 - - - - - - -
?/? c.76T>G r.(?) p.(Ser26Ala) g.155989883A>C Copied from the Exome Variant Server SSR2_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.104T>C r.(?) p.(Val35Ala) g.155989855A>G Copied from the Exome Variant Server SSR2_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.155+32C>T r.(=) p.(=) g.155989772G>A Copied from the Exome Variant Server SSR2_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.169G>A r.(?) p.(Val57Met) g.155988146C>T Copied from the Exome Variant Server SSR2_000039 2/13006 1/8600 1/4406 - - - - - - -
?/? c.207T>C r.(=) p.(=) g.155988108A>G Copied from the Exome Variant Server SSR2_000038 165/13006 1/8600 164/4406 - - - - - - -
?/? c.214G>A r.(?) p.(Val72Met) g.155988101C>T Copied from the Exome Variant Server SSR2_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.230A>G r.(?) p.(Asn77Ser) g.155988085T>C Copied from the Exome Variant Server SSR2_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.254+26A>C r.(=) p.(=) g.155988035T>G Copied from the Exome Variant Server SSR2_000032 2/13006 2/8600 0/4406 - - - - - - -
?/? c.254+31C>T r.(=) p.(=) g.155988030G>A Copied from the Exome Variant Server SSR2_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.254+37del r.(=) p.(=) g.155988024del Copied from the Exome Variant Server SSR2_000028 33/12520 19/8254 14/4266 - - - - - - -
?/? c.255-159C>T r.(=) p.(=) g.155985019G>A Copied from the Exome Variant Server SSR2_000026 4/4566 0/3182 4/1384 - - - - - - -
?/? c.255-94G>A r.(=) p.(=) g.155984954C>T Copied from the Exome Variant Server SSR2_000023 3/4566 0/3182 3/1384 - - - - - - -
?/? c.255-80A>C r.(=) p.(=) g.155984940T>G Copied from the Exome Variant Server SSR2_000021 5/4566 5/3182 0/1384 - - - - - - -
?/? c.255-40T>C r.(=) p.(=) g.155984900A>G Copied from the Exome Variant Server SSR2_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.255-34T>G r.(=) p.(=) g.155984894A>C Copied from the Exome Variant Server SSR2_000018 2/13006 2/8600 0/4406 - - - - - - -
?/? c.278_279del r.(?) p.(Val93Glyfs*47) g.155984836_155984837del Copied from the Exome Variant Server SSR2_000016 43/12520 32/8254 11/4266 - - - - - - -
?/? c.321G>A r.(=) p.(=) g.155984794C>T Copied from the Exome Variant Server SSR2_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.333_336del r.(?) p.(Tyr112Trpfs*9) g.155984779_155984782del Copied from the Exome Variant Server SSR2_000012 40/12520 26/8254 14/4266 - - - - - - -
?/? c.350A>G r.(?) p.(Asp117Gly) g.155984765T>C Copied from the Exome Variant Server SSR2_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.355C>A r.(?) p.(Pro119Thr) g.155984760G>T Copied from the Exome Variant Server SSR2_000037 2/13006 0/8600 2/4406 - - - - - - -
?/? c.363+1425C>T r.(=) p.(=) g.155983327G>A Copied from the Exome Variant Server SSR2_000035 2/4566 0/3182 2/1384 - - - - - - -
?/? c.363+1454T>C r.(=) p.(=) g.155983298A>G Copied from the Exome Variant Server SSR2_000033 2366/4566 1959/3182 407/1384 - - - - - - -
?/? c.363+1459T>C r.(=) p.(=) g.155983293A>G Copied from the Exome Variant Server SSR2_000031 4/4566 0/3182 4/1384 - - - - - - -
?/? c.363+1521_363+1529del r.(=) p.(=) g.155983223_155983231del Copied from the Exome Variant Server SSR2_000029 550/5774 432/3898 118/1876 - - - - - - -
?/? c.363+1527_363+1535del r.(=) p.(=) g.155983217_155983225del Copied from the Exome Variant Server SSR2_000027 544/5662 428/3824 116/1838 - - - - - - -
?/? c.364-58A>G r.(=) p.(=) g.155981736T>C Copied from the Exome Variant Server SSR2_000025 1/4566 0/3182 1/1384 - - - - - - -
?/? c.364-20C>T r.(=) p.(=) g.155981698G>A Copied from the Exome Variant Server SSR2_000024 3/13006 2/8600 1/4406 - - - - - - -
?/? c.364-17_364-16insG r.(=) p.(=) g.155981694_155981695insC Copied from the Exome Variant Server SSR2_000022 1/12520 1/8254 0/4266 - - - - - - -
?/? c.382C>T r.(?) p.(Pro128Ser) g.155981660G>A Copied from the Exome Variant Server SSR2_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.397A>C r.(?) p.(Ile133Leu) g.155981645T>G Copied from the Exome Variant Server SSR2_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.410G>A r.(?) p.(Arg137Gln) g.155981632C>T Copied from the Exome Variant Server SSR2_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.423G>A r.(=) p.(=) g.155981619C>T Copied from the Exome Variant Server SSR2_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.441+10C>T r.(=) p.(=) g.155981591G>A Copied from the Exome Variant Server SSR2_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.441+29G>A r.(=) p.(=) g.155981572C>T Copied from the Exome Variant Server SSR2_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.442-29C>G r.(=) p.(=) g.155979470G>C Copied from the Exome Variant Server SSR2_000008 3/13006 3/8600 0/4406 - - - - - - -
?/? c.442-3C>T r.spl? p.? g.155979444G>A Copied from the Exome Variant Server SSR2_000007 3/13006 3/8600 0/4406 - - - - - - -
?/? c.466A>T r.(?) p.(Met156Leu) g.155979417T>A Copied from the Exome Variant Server SSR2_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.483C>T r.(=) p.(=) g.155979400G>A Copied from the Exome Variant Server SSR2_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.487A>G r.(?) p.(Ile163Val) g.155979396T>C Copied from the Exome Variant Server SSR2_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.546_548del r.(?) p.(Lys182del) g.155979335_155979337del Copied from the Exome Variant Server SSR2_000003 7/12520 7/8254 0/4266 - - - - - - -
?/? c.*19T>A r.(=) p.(=) g.155979312A>T Copied from the Exome Variant Server SSR2_000002 2/13006 2/8600 0/4406 - - - - - - -
?/? c.*44T>C r.(=) p.(=) g.155979287A>G Copied from the Exome Variant Server SSR2_000001 19/13006 0/8600 19/4406 - - - - - - -
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