Full data view for gene SMARCB1

Information The variants shown are described using the NM_003073.3 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.-31C>T r.(=) p.(=) g.24129326C>T Copied from the Exome Variant Server SMARCB1_000001 69/12930 1/8542 68/4388 - - - - - - -
?/? c.1A>G r.? p.? g.24129357A>G Copied from the Exome Variant Server SMARCB1_000002 1/12998 1/8596 0/4402 - - - - - - -
?/? c.11T>C r.(?) p.(Met4Thr) g.24129367T>C Copied from the Exome Variant Server SMARCB1_000003 1/13004 1/8600 0/4404 - - - - - - -
?/? c.78C>T r.(=) p.(=) g.24129434C>T Copied from the Exome Variant Server SMARCB1_000004 1/13000 0/8596 1/4404 - - - - - - -
?/? c.93+7C>T r.(=) p.(=) g.24129456C>T Copied from the Exome Variant Server SMARCB1_000005 1/12988 0/8592 1/4396 - - - - - - -
?/? c.93+21G>T r.(=) p.(=) g.24129470G>T Copied from the Exome Variant Server SMARCB1_000006 3/12962 0/8578 3/4384 - - - - - - -
?/? c.93+44G>C r.(=) p.(=) g.24129493G>C Copied from the Exome Variant Server SMARCB1_000007 10/12792 5/8466 5/4326 - - - - - - -
?/? c.94-36C>T r.(=) p.(=) g.24133907C>T Copied from the Exome Variant Server SMARCB1_000008 2/13006 2/8600 0/4406 - - - - - - -
?/? c.94-35G>C r.(=) p.(=) g.24133908G>C Copied from the Exome Variant Server SMARCB1_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.94-27T>C r.(=) p.(=) g.24133916T>C Copied from the Exome Variant Server SMARCB1_000010 2/13006 0/8600 2/4406 - - - - - - -
?/? c.94-21G>A r.(=) p.(=) g.24133922G>A Copied from the Exome Variant Server SMARCB1_000011 14/13006 0/8600 14/4406 - - - - - - -
?/? c.132C>T r.(=) p.(=) g.24133981C>T Copied from the Exome Variant Server SMARCB1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.232+12C>T r.(=) p.(=) g.24134093C>T Copied from the Exome Variant Server SMARCB1_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.232+43C>T r.(=) p.(=) g.24134124C>T Copied from the Exome Variant Server SMARCB1_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.233-43A>T r.(=) p.(=) g.24135703A>T Copied from the Exome Variant Server SMARCB1_000015 95/13006 90/8600 5/4406 - - - - - - -
?/? c.237C>T r.(=) p.(=) g.24135750C>T Copied from the Exome Variant Server SMARCB1_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.267C>T r.(=) p.(=) g.24135780C>T Copied from the Exome Variant Server SMARCB1_000017 17/13006 0/8600 17/4406 - - - - - - -
?/? c.282G>A r.(=) p.(=) g.24135795G>A Copied from the Exome Variant Server SMARCB1_000018 5/13006 0/8600 5/4406 - - - - - - -
?/? c.309C>T r.(=) p.(=) g.24135822C>T Copied from the Exome Variant Server SMARCB1_000019 2/13006 1/8600 1/4406 - - - - - - -
?/? c.362+7C>T r.(=) p.(=) g.24135882C>T Copied from the Exome Variant Server SMARCB1_000020 122/13006 7/8600 115/4406 - - - - - - -
?/? c.362+42G>T r.(=) p.(=) g.24135917G>T Copied from the Exome Variant Server SMARCB1_000021 45/13006 1/8600 44/4406 - - - - - - -
?/? c.438A>G r.(=) p.(=) g.24143206A>G Copied from the Exome Variant Server SMARCB1_000022 73/13006 1/8600 72/4406 - - - - - - -
?/? c.444C>T r.(=) p.(=) g.24143212C>T Copied from the Exome Variant Server SMARCB1_000023 15/13006 0/8600 15/4406 - - - - - - -
?/? c.500+13C>T r.(=) p.(=) g.24143281C>T Copied from the Exome Variant Server SMARCB1_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.500+14G>A r.(=) p.(=) g.24143282G>A Copied from the Exome Variant Server SMARCB1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.500+24C>G r.(=) p.(=) g.24143292C>G Copied from the Exome Variant Server SMARCB1_000026 10/13006 9/8600 1/4406 - - - - - - -
?/? c.500+25C>T r.(=) p.(=) g.24143293C>T Copied from the Exome Variant Server SMARCB1_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.500+40C>T r.(=) p.(=) g.24143308C>T Copied from the Exome Variant Server SMARCB1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.501-39C>T r.(=) p.(=) g.24145443C>T Copied from the Exome Variant Server SMARCB1_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.501-38G>A r.(=) p.(=) g.24145444G>A Copied from the Exome Variant Server SMARCB1_000030 10/13006 10/8600 0/4406 - - - - - - -
?/? c.501-30C>T r.(=) p.(=) g.24145452C>T Copied from the Exome Variant Server SMARCB1_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.501-29G>T r.(=) p.(=) g.24145453G>T Copied from the Exome Variant Server SMARCB1_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.501-23T>G r.(=) p.(=) g.24145459T>G Copied from the Exome Variant Server SMARCB1_000033 57/13006 16/8600 41/4406 - - - - - - -
?/? c.577A>G r.(?) p.(Met193Val) g.24145558A>G Copied from the Exome Variant Server SMARCB1_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.628+4C>T r.spl? p.? g.24145613C>T Copied from the Exome Variant Server SMARCB1_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.628+13C>T r.(=) p.(=) g.24145622C>T Copied from the Exome Variant Server SMARCB1_000036 37/13006 35/8600 2/4406 - - - - - - -
?/? c.628+52G>A r.(=) p.(=) g.24145661G>A Copied from the Exome Variant Server SMARCB1_000037 1/7272 0/4618 1/2654 - - - - - - -
?/? c.629-51T>C r.(=) p.(=) g.24158906T>C Copied from the Exome Variant Server SMARCB1_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.629-34A>G r.(=) p.(=) g.24158923A>G Copied from the Exome Variant Server SMARCB1_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.630G>T r.(?) p.(Glu210Asp) g.24158958G>T Copied from the Exome Variant Server SMARCB1_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.696G>A r.(=) p.(=) g.24159024G>A Copied from the Exome Variant Server SMARCB1_000041 4/13006 4/8600 0/4406 - - - - - - -
?/? c.755G>A r.(?) p.(Ser252Asn) g.24159083G>A Copied from the Exome Variant Server SMARCB1_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.795+32_795+33insC r.(=) p.(=) g.24159155_24159156insC Copied from the Exome Variant Server SMARCB1_000043 1/12508 1/8246 0/4262 - - - - - - -
?/? c.796-46C>A r.(=) p.(=) g.24167366C>A Copied from the Exome Variant Server SMARCB1_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.852A>G r.(=) p.(=) g.24167468A>G Copied from the Exome Variant Server SMARCB1_000045 2/13006 2/8600 0/4406 - - - - - - -
?/? c.889C>T r.(=) p.(=) g.24167505C>T Copied from the Exome Variant Server SMARCB1_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.897G>A r.(=) p.(=) g.24167513G>A Copied from the Exome Variant Server SMARCB1_000047 1385/13006 983/8600 402/4406 - - - - - - -
?/? c.912C>T r.(=) p.(=) g.24167528C>T Copied from the Exome Variant Server SMARCB1_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.933C>T r.(=) p.(=) g.24167549C>T Copied from the Exome Variant Server SMARCB1_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.978C>T r.(=) p.(=) g.24167594C>T Copied from the Exome Variant Server SMARCB1_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.987-38del r.(=) p.(=) g.24175721del Copied from the Exome Variant Server SMARCB1_000051 5/12518 3/8254 2/4264 - - - - - - -
?/? c.987C>T r.(=) p.(=) g.24175759C>T Copied from the Exome Variant Server SMARCB1_000052 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1032C>T r.(=) p.(=) g.24175804C>T Copied from the Exome Variant Server SMARCB1_000053 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1116G>A r.(=) p.(=) g.24175888G>A Copied from the Exome Variant Server SMARCB1_000054 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1118+4C>G r.spl? p.? g.24175894C>G Copied from the Exome Variant Server SMARCB1_000055 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1118+24G>A r.(=) p.(=) g.24175914G>A Copied from the Exome Variant Server SMARCB1_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1118+52A>G r.(=) p.(=) g.24175942A>G Copied from the Exome Variant Server SMARCB1_000057 69/7272 58/4618 11/2654 - - - - - - -
?/? c.1119-41G>A r.(=) p.(=) g.24176287G>A Copied from the Exome Variant Server SMARCB1_000058 1643/12912 1098/8552 545/4360 - - - - - - -
?/? c.1119-31C>T r.(=) p.(=) g.24176297C>T Copied from the Exome Variant Server SMARCB1_000059 22/12944 4/8574 18/4370 - - - - - - -
?/? c.1119-30G>A r.(=) p.(=) g.24176298G>A Copied from the Exome Variant Server SMARCB1_000060 4/12952 0/8576 4/4376 - - - - - - -
?/? c.1119-14C>T r.(=) p.(=) g.24176314C>T Copied from the Exome Variant Server SMARCB1_000061 2/12978 0/8588 2/4390 - - - - - - -
?/? c.1131T>C r.(=) p.(=) g.24176340T>C Copied from the Exome Variant Server SMARCB1_000062 25/12984 1/8598 24/4386 - - - - - - -
?/? c.*15C>A r.(=) p.(=) g.24176382C>A Copied from the Exome Variant Server SMARCB1_000063 2/12960 0/8572 2/4388 - - - - - - -
?/? c.*17C>T r.(=) p.(=) g.24176384C>T Copied from the Exome Variant Server SMARCB1_000064 1/12960 1/8572 0/4388 - - - - - - -
?/? c.*18G>A r.(=) p.(=) g.24176385G>A Copied from the Exome Variant Server SMARCB1_000065 1/12956 1/8572 0/4384 - - - - - - -
?/? c.*33T>G r.(=) p.(=) g.24176400T>G Copied from the Exome Variant Server SMARCB1_000066 4/12920 2/8550 2/4370 - - - - - - -
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