All transcript variants in gene SMARCA1

Information The variants shown are described using the NM_003069.3 transcript reference sequence.

105 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     
?/? c.-29G>A r.(=) p.(=) g.128657376C>T Copied from the Exome Variant Server SMARCA1_000105 611/10542 437/6709 174/3833
?/? c.29_36del r.(?) p.(Ala10Glyfs*59) g.128657312_128657319del Copied from the Exome Variant Server SMARCA1_000104 15/10064 7/6386 8/3678
?/? c.54C>T r.(=) p.(=) g.128657294G>A Copied from the Exome Variant Server SMARCA1_000103 10/10553 0/6723 10/3830
?/? c.102T>G r.(=) p.(=) g.128657246A>C Copied from the Exome Variant Server SMARCA1_000101 1/10554 1/6724 0/3830
?/? c.160G>A r.(?) p.(Glu54Lys) g.128657188C>T Copied from the Exome Variant Server SMARCA1_000099 1/10563 1/6728 0/3835
?/? c.174+6T>C r.(=) p.(=) g.128657168A>G Copied from the Exome Variant Server SMARCA1_000102 1/10563 1/6728 0/3835
?/? c.174+15G>A r.(=) p.(=) g.128657159C>T Copied from the Exome Variant Server SMARCA1_000100 105/10563 0/6728 105/3835
?/? c.174+30G>C r.(=) p.(=) g.128657144C>G Copied from the Exome Variant Server SMARCA1_000098 2/10563 0/6728 2/3835
?/? c.174+50C>G r.(=) p.(=) g.128657124G>C Copied from the Exome Variant Server SMARCA1_000097 1/10563 1/6728 0/3835
?/? c.261+12C>T r.(=) p.(=) g.128652326G>A Copied from the Exome Variant Server SMARCA1_000096 1/10557 1/6726 0/3831
?/? c.261+19A>G r.(=) p.(=) g.128652319T>C Copied from the Exome Variant Server SMARCA1_000095 1/10557 1/6726 0/3831
?/? c.262-8C>A r.(=) p.(=) g.128650482G>T Copied from the Exome Variant Server SMARCA1_000094 1/10563 0/6728 1/3835
?/? c.267C>T r.(=) p.(=) g.128650469G>A Copied from the Exome Variant Server SMARCA1_000093 2/10563 0/6728 2/3835
?/? c.423T>C r.(=) p.(=) g.128650313A>G Copied from the Exome Variant Server SMARCA1_000092 1/10563 1/6728 0/3835
?/? c.517G>A r.(?) p.(Val173Met) g.128649883C>T Copied from the Exome Variant Server SMARCA1_000091 1/10563 1/6728 0/3835
?/? c.530-21G>A r.(=) p.(=) g.128649785C>T Copied from the Exome Variant Server SMARCA1_000090 10/10563 0/6728 10/3835
?/? c.543G>A r.(=) p.(=) g.128649751C>T Copied from the Exome Variant Server SMARCA1_000089 1/10563 1/6728 0/3835
?/? c.630+18A>G r.(=) p.(=) g.128649646T>C Copied from the Exome Variant Server SMARCA1_000088 1/10561 1/6728 0/3833
?/? c.630+40A>G r.(=) p.(=) g.128649624T>C Copied from the Exome Variant Server SMARCA1_000087 126/10561 2/6728 124/3833
?/? c.631-44A>G r.(=) p.(=) g.128646004T>C Copied from the Exome Variant Server SMARCA1_000086 4/10558 0/6724 4/3834
?/? c.737A>G r.(?) p.(Asn246Ser) g.128645854T>C Copied from the Exome Variant Server SMARCA1_000085 3/10563 1/6728 2/3835
?/? c.775C>T r.(?) p.(Arg259Cys) g.128645816G>A Copied from the Exome Variant Server SMARCA1_000084 13/10563 1/6728 12/3835
?/? c.810+27C>T r.(=) p.(=) g.128645754G>A Copied from the Exome Variant Server SMARCA1_000083 2/10563 2/6728 0/3835
?/? c.811-3T>C r.spl? p.? g.128642076A>G Copied from the Exome Variant Server SMARCA1_000082 1/10550 1/6716 0/3834
?/? c.823C>T r.(?) p.(Arg275Cys) g.128642061G>A Copied from the Exome Variant Server SMARCA1_000081 9/10558 7/6723 2/3835
?/? c.824G>A r.(?) p.(Arg275His) g.128642060C>T Copied from the Exome Variant Server SMARCA1_000080 1/10558 1/6723 0/3835
?/? c.858C>T r.(=) p.(=) g.128642026G>A Copied from the Exome Variant Server SMARCA1_000079 1/10559 1/6724 0/3835
?/? c.865T>A r.(?) p.(Ser289Thr) g.128642019A>T Copied from the Exome Variant Server SMARCA1_000078 1/10559 0/6724 1/3835
?/? c.900C>T r.(=) p.(=) g.128641984G>A Copied from the Exome Variant Server SMARCA1_000077 6/10561 0/6726 6/3835
?/? c.967-23C>G r.(=) p.(=) g.128640211G>C Copied from the Exome Variant Server SMARCA1_000076 1/10563 1/6728 0/3835
?/? c.967-18A>T r.(=) p.(=) g.128640206T>A Copied from the Exome Variant Server SMARCA1_000075 142/10563 2/6728 140/3835
?/? c.967-12A>G r.(=) p.(=) g.128640200T>C Copied from the Exome Variant Server SMARCA1_000074 6/10563 0/6728 6/3835
?/? c.1098+45C>T r.(=) p.(=) g.128640012G>A Copied from the Exome Variant Server SMARCA1_000073 1/10563 1/6728 0/3835
?/? c.1099-13C>T r.(=) p.(=) g.128638792G>A Copied from the Exome Variant Server SMARCA1_000072 1/10563 0/6728 1/3835
?/? c.1164T>C r.(=) p.(=) g.128638714A>G Copied from the Exome Variant Server SMARCA1_000071 10/10563 0/6728 10/3835
?/? c.1167+15A>G r.(=) p.(=) g.128638696T>C Copied from the Exome Variant Server SMARCA1_000070 1/10563 1/6728 0/3835
?/? c.1167+16C>G r.(=) p.(=) g.128638695G>C Copied from the Exome Variant Server SMARCA1_000069 60/10563 0/6728 60/3835
?/? c.1269A>G r.(=) p.(=) g.128633717T>C Copied from the Exome Variant Server SMARCA1_000068 165/10562 152/6727 13/3835
?/? c.1277+14T>C r.(=) p.(=) g.128633695A>G Copied from the Exome Variant Server SMARCA1_000067 1/10560 1/6727 0/3833
?/? c.1343G>A r.(?) p.(Arg448Gln) g.128631983C>T Copied from the Exome Variant Server SMARCA1_000066 1/10563 0/6728 1/3835
?/? c.1504+11A>C r.(=) p.(=) g.128631811T>G Copied from the Exome Variant Server SMARCA1_000065 2/10559 2/6724 0/3835
?/? c.1505-38A>C r.(=) p.(=) g.128630886T>G Copied from the Exome Variant Server SMARCA1_000064 15/10563 12/6728 3/3835
?/? c.1574G>A r.(?) p.(Arg525His) g.128630779C>T Copied from the Exome Variant Server SMARCA1_000063 1/10563 0/6728 1/3835
?/? c.1608C>T r.(=) p.(=) g.128630745G>A Copied from the Exome Variant Server SMARCA1_000062 5/10563 5/6728 0/3835
?/? c.1626+21T>G r.(=) p.(=) g.128630706A>C Copied from the Exome Variant Server SMARCA1_000061 1/10563 1/6728 0/3835
?/? c.1663-17A>G r.(=) p.(=) g.128626087T>C Copied from the Exome Variant Server SMARCA1_000060 1/10555 1/6720 0/3835
?/? c.1663-16T>C r.(=) p.(=) g.128626086A>G Copied from the Exome Variant Server SMARCA1_000059 102/10555 0/6720 102/3835
?/? c.1773A>G r.(=) p.(=) g.128625960T>C Copied from the Exome Variant Server SMARCA1_000058 12/10563 11/6728 1/3835
?/? c.1815+49A>G r.(=) p.(=) g.128625869T>C Copied from the Exome Variant Server SMARCA1_000057 1063/10562 591/6727 472/3835
?/? c.1840A>G r.(?) p.(Lys614Glu) g.128624145T>C Copied from the Exome Variant Server SMARCA1_000056 1/10563 0/6728 1/3835
?/? c.1926C>T r.(=) p.(=) g.128624059G>A Copied from the Exome Variant Server SMARCA1_000055 1/10563 1/6728 0/3835
?/? c.1948+28T>C r.(=) p.(=) g.128624009A>G Copied from the Exome Variant Server SMARCA1_000054 3/10560 1/6726 2/3834
?/? c.1948+44_1948+45del r.(=) p.(=) g.128623992_128623993del Copied from the Exome Variant Server SMARCA1_000053 5/10198 3/6480 2/3718
?/? c.1949-49T>C r.(=) p.(=) g.128623111A>G Copied from the Exome Variant Server SMARCA1_000052 10/10561 10/6728 0/3833
?/? c.1949-26T>C r.(=) p.(=) g.128623088A>G Copied from the Exome Variant Server SMARCA1_000051 1/10561 0/6728 1/3833
?/? c.1949-10T>A r.(=) p.(=) g.128623072A>T Copied from the Exome Variant Server SMARCA1_000050 1/10561 1/6728 0/3833
?/? c.1967A>G r.(?) p.(Gln656Arg) g.128623044T>C Copied from the Exome Variant Server SMARCA1_000049 1/10563 1/6728 0/3835
?/? c.2062G>A r.(?) p.(Asp688Asn) g.128622949C>T Copied from the Exome Variant Server SMARCA1_000048 1/10563 1/6728 0/3835
?/? c.2097+15C>A r.(=) p.(=) g.128622899G>T Copied from the Exome Variant Server SMARCA1_000047 1/10557 1/6724 0/3833
?/? c.2097+27A>T r.(=) p.(=) g.128622887T>A Copied from the Exome Variant Server SMARCA1_000046 1/10559 1/6724 0/3835
?/? c.2116C>T r.(?) p.(Arg706Cys) g.128621096G>A Copied from the Exome Variant Server SMARCA1_000045 3/10562 3/6727 0/3835
?/? c.2184A>T r.(?) p.(Lys728Asn) g.128621028T>A Copied from the Exome Variant Server SMARCA1_000044 1/10557 1/6724 0/3833
?/? c.2202T>C r.(=) p.(=) g.128621010A>G Copied from the Exome Variant Server SMARCA1_000043 1/10560 1/6725 0/3835
?/? c.2217+49C>T r.(=) p.(=) g.128620946G>A Copied from the Exome Variant Server SMARCA1_000042 1/10559 0/6724 1/3835
?/? c.2218-40T>A r.(=) p.(=) g.128615202A>T Copied from the Exome Variant Server SMARCA1_000041 1/10563 1/6728 0/3835
?/? c.2243C>T r.(?) p.(Pro748Leu) g.128615137G>A Copied from the Exome Variant Server SMARCA1_000040 1/10563 0/6728 1/3835
?/? c.2267A>G r.(?) p.(Asn756Ser) g.128615113T>C Copied from the Exome Variant Server SMARCA1_000039 1/10563 1/6728 0/3835
?/? c.2271C>T r.(=) p.(=) g.128615109G>A Copied from the Exome Variant Server SMARCA1_000038 4/10563 0/6728 4/3835
?/? c.2310C>T r.(=) p.(=) g.128615070G>A Copied from the Exome Variant Server SMARCA1_000037 1/10563 1/6728 0/3835
?/? c.2329-49C>T r.(=) p.(=) g.128614840G>A Copied from the Exome Variant Server SMARCA1_000036 1/10536 0/6722 1/3814
?/? c.2329-41A>G r.(=) p.(=) g.128614832T>C Copied from the Exome Variant Server SMARCA1_000035 14/10543 14/6723 0/3820
?/? c.2329-33G>T r.(=) p.(=) g.128614824C>A Copied from the Exome Variant Server SMARCA1_000034 3/10550 3/6727 0/3823
?/? c.2367T>C r.(=) p.(=) g.128614753A>G Copied from the Exome Variant Server SMARCA1_000033 1/10563 0/6728 1/3835
?/? c.2384G>A r.(?) p.(Arg795His) g.128614736C>T Copied from the Exome Variant Server SMARCA1_000032 1/10563 1/6728 0/3835
?/? c.2422C>T r.(?) p.(Arg808Trp) g.128614698G>A Copied from the Exome Variant Server SMARCA1_000031 1/10563 0/6728 1/3835
?/? c.2442+22A>T r.(=) p.(=) g.128614656T>A Copied from the Exome Variant Server SMARCA1_000030 13/10303 11/6631 2/3672
?/? c.2443-27A>G r.(=) p.(=) g.128605330T>C Copied from the Exome Variant Server SMARCA1_000029 1/10563 1/6728 0/3835
?/? c.2480C>G r.(?) p.(Ala827Gly) g.128605266G>C Copied from the Exome Variant Server SMARCA1_000028 1/10563 1/6728 0/3835
?/? c.2510G>C r.(?) p.(Gly837Ala) g.128605236C>G Copied from the Exome Variant Server SMARCA1_000027 109/10563 3/6728 106/3835
?/? c.2544A>T r.(?) p.(Glu848Asp) g.128605202T>A Copied from the Exome Variant Server SMARCA1_000026 1/10563 1/6728 0/3835
?/? c.2559C>T r.(=) p.(=) g.128605187G>A Copied from the Exome Variant Server SMARCA1_000025 1/10563 0/6728 1/3835
?/? c.2565+27C>T r.(=) p.(=) g.128605154G>A Copied from the Exome Variant Server SMARCA1_000024 1/10561 0/6728 1/3833
?/? c.2565+41A>G r.(=) p.(=) g.128605140T>C Copied from the Exome Variant Server SMARCA1_000023 2/10561 2/6728 0/3833
?/? c.2566-44A>G r.(=) p.(=) g.128602926T>C Copied from the Exome Variant Server SMARCA1_000022 1/10560 0/6726 1/3834
?/? c.2566-39T>C r.(=) p.(=) g.128602921A>G Copied from the Exome Variant Server SMARCA1_000021 1/10560 1/6726 0/3834
?/? c.2566-20G>A r.(=) p.(=) g.128602902C>T Copied from the Exome Variant Server SMARCA1_000020 4/10563 4/6728 0/3835
?/? c.2699-43T>G r.(=) p.(=) g.128599982A>C Copied from the Exome Variant Server SMARCA1_000019 384/10553 3/6720 381/3833
?/? c.2699-33A>G r.(=) p.(=) g.128599972T>C Copied from the Exome Variant Server SMARCA1_000018 1/10559 1/6724 0/3835
?/? c.2699-20G>T r.(=) p.(=) g.128599959C>A Copied from the Exome Variant Server SMARCA1_000017 27/10563 15/6728 12/3835
?/? c.2733C>T r.(=) p.(=) g.128599905G>A Copied from the Exome Variant Server SMARCA1_000016 1/10563 1/6728 0/3835
?/? c.2749G>A r.(?) p.(Ala917Thr) g.128599889C>T Copied from the Exome Variant Server SMARCA1_000015 2/10561 0/6726 2/3835
?/? c.2817+33C>T r.(=) p.(=) g.128599788G>A Copied from the Exome Variant Server SMARCA1_000014 1/10563 0/6728 1/3835
?/? c.2818-42C>A r.(=) p.(=) g.128599751G>T Copied from the Exome Variant Server SMARCA1_000013 1/10563 1/6728 0/3835
?/? c.2818-31A>G r.(=) p.(=) g.128599740T>C Copied from the Exome Variant Server SMARCA1_000012 1/10562 1/6727 0/3835
?/? c.2818-25A>C r.(=) p.(=) g.128599734T>G Copied from the Exome Variant Server SMARCA1_000011 4/10563 0/6728 4/3835
?/? c.2883C>T r.(=) p.(=) g.128599644G>A Copied from the Exome Variant Server SMARCA1_000010 1/10563 1/6728 0/3835
?/? c.2904A>G r.(=) p.(=) g.128599623T>C Copied from the Exome Variant Server SMARCA1_000009 4/10563 4/6728 0/3835
?/? c.3026C>T r.(?) p.(Ala1009Val) g.128599501G>A Copied from the Exome Variant Server SMARCA1_000008 1/10563 0/6728 1/3835
?/? c.3031-38G>C r.(=) p.(=) g.128582458C>G Copied from the Exome Variant Server SMARCA1_000007 49/10550 0/6721 49/3829
?/? c.3050A>G r.(?) p.(Asn1017Ser) g.128582401T>C Copied from the Exome Variant Server SMARCA1_000006 1/10562 0/6727 1/3835
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