All transcript variants in gene SASH3

Information The variants shown are described using the NM_018990.3 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-23G>A r.(=) p.(=) g.128914051G>A Copied from the Exome Variant Server SASH3_000001 2/10563 2/6728 0/3835
?/? c.7C>T r.(?) p.(Arg3Cys) g.128914080C>T Copied from the Exome Variant Server SASH3_000002 1/10563 0/6728 1/3835
?/? c.8G>A r.(?) p.(Arg3His) g.128914081G>A Copied from the Exome Variant Server SASH3_000003 1/10563 1/6728 0/3835
?/? c.57+9C>G r.(=) p.(=) g.128914139C>G Copied from the Exome Variant Server SASH3_000004 4/10562 0/6728 4/3834
?/? c.57+12T>A r.(=) p.(=) g.128914142T>A Copied from the Exome Variant Server SASH3_000005 1/10557 1/6727 0/3830
?/? c.57+47C>T r.(=) p.(=) g.128914177C>T Copied from the Exome Variant Server SASH3_000006 1/10546 0/6722 1/3824
?/? c.58-50C>T r.(=) p.(=) g.128921901C>T Copied from the Exome Variant Server SASH3_000007 22/10563 22/6728 0/3835
?/? c.58-46G>A r.(=) p.(=) g.128921905G>A Copied from the Exome Variant Server SASH3_000008 2/10563 2/6728 0/3835
?/? c.60C>T r.(=) p.(=) g.128921953C>T Copied from the Exome Variant Server SASH3_000009 1/10563 1/6728 0/3835
?/? c.135G>A r.(=) p.(=) g.128922028G>A Copied from the Exome Variant Server SASH3_000010 1/10563 0/6728 1/3835
?/? c.153+48del r.(=) p.(=) g.128922094del Copied from the Exome Variant Server SASH3_000011 9/9968 9/6354 0/3614
?/? c.154-52G>A r.(=) p.(=) g.128922355G>A Copied from the Exome Variant Server SASH3_000012 1/4525 1/3107 0/1418
?/? c.154-19G>A r.(=) p.(=) g.128922388G>A Copied from the Exome Variant Server SASH3_000013 1/10563 1/6728 0/3835
?/? c.165T>C r.(=) p.(=) g.128922418T>C Copied from the Exome Variant Server SASH3_000014 1/10563 0/6728 1/3835
?/? c.193G>A r.(?) p.(Ala65Thr) g.128922446G>A Copied from the Exome Variant Server SASH3_000015 1/10563 1/6728 0/3835
?/? c.216G>T r.(=) p.(=) g.128922469G>T Copied from the Exome Variant Server SASH3_000016 3/10563 0/6728 3/3835
?/? c.233C>T r.(?) p.(Ala78Val) g.128922486C>T Copied from the Exome Variant Server SASH3_000017 1/10563 1/6728 0/3835
?/? c.234A>G r.(=) p.(=) g.128922487A>G Copied from the Exome Variant Server SASH3_000018 1/10563 0/6728 1/3835
?/? c.277G>A r.(?) p.(Val93Met) g.128922530G>A Copied from the Exome Variant Server SASH3_000019 2/10563 0/6728 2/3835
?/? c.300+8C>T r.(=) p.(=) g.128922561C>T Copied from the Exome Variant Server SASH3_000020 1/10563 0/6728 1/3835
?/? c.300+10G>A r.(=) p.(=) g.128922563G>A Copied from the Exome Variant Server SASH3_000021 2/10563 0/6728 2/3835
?/? c.300+39G>A r.(=) p.(=) g.128922592G>A Copied from the Exome Variant Server SASH3_000022 204/10562 2/6727 202/3835
?/? c.301-43C>T r.(=) p.(=) g.128924873C>T Copied from the Exome Variant Server SASH3_000023 3/10557 1/6723 2/3834
?/? c.301-28T>G r.(=) p.(=) g.128924888T>G Copied from the Exome Variant Server SASH3_000024 1/10562 1/6727 0/3835
?/? c.301-27del r.(=) p.(=) g.128924889del Copied from the Exome Variant Server SASH3_000025 32/10203 26/6482 6/3721
?/? c.301-17G>A r.(=) p.(=) g.128924899G>A Copied from the Exome Variant Server SASH3_000026 1/10563 1/6728 0/3835
?/? c.381G>A r.(=) p.(=) g.128924996G>A Copied from the Exome Variant Server SASH3_000027 1/10563 0/6728 1/3835
?/? c.400G>A r.(?) p.(Glu134Lys) g.128925015G>A Copied from the Exome Variant Server SASH3_000028 4/10563 4/6728 0/3835
?/? c.416C>T r.(?) p.(Pro139Leu) g.128925031C>T Copied from the Exome Variant Server SASH3_000029 9/10563 0/6728 9/3835
?/? c.429C>G r.(=) p.(=) g.128925044C>G Copied from the Exome Variant Server SASH3_000030 1/10562 0/6727 1/3835
?/? c.442+14G>A r.(=) p.(=) g.128925071G>A Copied from the Exome Variant Server SASH3_000031 2/10559 0/6725 2/3834
?/? c.442+30G>A r.(=) p.(=) g.128925087G>A Copied from the Exome Variant Server SASH3_000032 1/10547 1/6719 0/3828
?/? c.443-42C>A r.(=) p.(=) g.128926262C>A Copied from the Exome Variant Server SASH3_000033 2/10561 0/6727 2/3834
?/? c.443-25C>T r.(=) p.(=) g.128926279C>T Copied from the Exome Variant Server SASH3_000034 3/10563 2/6728 1/3835
?/? c.464G>A r.(?) p.(Ser155Asn) g.128926325G>A Copied from the Exome Variant Server SASH3_000035 1/10563 1/6728 0/3835
?/? c.492A>C r.(?) p.(Glu164Asp) g.128926353A>C Copied from the Exome Variant Server SASH3_000036 1/10563 1/6728 0/3835
?/? c.496C>T r.(?) p.(Pro166Ser) g.128926357C>T Copied from the Exome Variant Server SASH3_000037 1/10563 0/6728 1/3835
?/? c.591+7T>C r.(=) p.(=) g.128926459T>C Copied from the Exome Variant Server SASH3_000038 13/10563 13/6728 0/3835
?/? c.592-8C>T r.(=) p.(=) g.128926595C>T Copied from the Exome Variant Server SASH3_000039 1/10563 0/6728 1/3835
?/? c.708C>T r.(=) p.(=) g.128926719C>T Copied from the Exome Variant Server SASH3_000040 1/10563 1/6728 0/3835
?/? c.718G>A r.(?) p.(Ala240Thr) g.128926729G>A Copied from the Exome Variant Server SASH3_000041 26/10563 0/6728 26/3835
?/? c.730C>T r.(?) p.(Arg244Cys) g.128926741C>T Copied from the Exome Variant Server SASH3_000042 5/10561 4/6728 1/3833
?/? c.734G>A r.(?) p.(Arg245Gln) g.128926745G>A Copied from the Exome Variant Server SASH3_000044 1/10561 1/6726 0/3835
?/? c.735A>T r.(=) p.(=) g.128926746A>T Copied from the Exome Variant Server SASH3_000046 1/10561 1/6726 0/3835
?/? c.793G>A r.(?) p.(Gly265Ser) g.128926804G>A Copied from the Exome Variant Server SASH3_000048 2/10560 2/6725 0/3835
?/? c.801+20T>C r.(=) p.(=) g.128926832T>C Copied from the Exome Variant Server SASH3_000050 2/10556 2/6724 0/3832
?/? c.801+22_801+23insTCACTAT r.(=) p.(=) g.128926834_128926835insTCACTAT Copied from the Exome Variant Server SASH3_000052 352/10197 9/6480 343/3717
?/? c.801+48G>T r.(=) p.(=) g.128926860G>T Copied from the Exome Variant Server SASH3_000043 1/10562 1/6728 0/3834
?/? c.801+52C>G r.(=) p.(=) g.128926864C>G Copied from the Exome Variant Server SASH3_000045 9/6037 8/3621 1/2416
?/? c.822G>A r.(=) p.(=) g.128926985G>A Copied from the Exome Variant Server SASH3_000047 1/10563 0/6728 1/3835
?/? c.873C>G r.(?) p.(His291Gln) g.128927036C>G Copied from the Exome Variant Server SASH3_000049 1/10563 1/6728 0/3835
?/? c.907C>A r.(=) p.(=) g.128927070C>A Copied from the Exome Variant Server SASH3_000051 3/10563 0/6728 3/3835
?/? c.927C>T r.(=) p.(=) g.128927090C>T Copied from the Exome Variant Server SASH3_000053 19/10563 0/6728 19/3835
?/? c.930C>T r.(=) p.(=) g.128927093C>T Copied from the Exome Variant Server SASH3_000054 1/10563 1/6728 0/3835
?/? c.952+18C>T r.(=) p.(=) g.128927133C>T Copied from the Exome Variant Server SASH3_000055 5/10563 0/6728 5/3835
?/? c.952+19G>A r.(=) p.(=) g.128927134G>A Copied from the Exome Variant Server SASH3_000056 1/10563 1/6728 0/3835
?/? c.952+43C>T r.(=) p.(=) g.128927158C>T Copied from the Exome Variant Server SASH3_000057 1/10563 1/6728 0/3835
?/? c.953-37A>G r.(=) p.(=) g.128927581A>G Copied from the Exome Variant Server SASH3_000058 27/10558 0/6723 27/3835
?/? c.953-11G>A r.(=) p.(=) g.128927607G>A Copied from the Exome Variant Server SASH3_000059 1/10559 1/6727 0/3832
?/? c.978C>T r.(=) p.(=) g.128927643C>T Copied from the Exome Variant Server SASH3_000060 1/10561 0/6728 1/3833
?/? c.979G>A r.(?) p.(Ala327Thr) g.128927644G>A Copied from the Exome Variant Server SASH3_000061 3/10561 3/6728 0/3833
?/? c.981C>T r.(=) p.(=) g.128927646C>T Copied from the Exome Variant Server SASH3_000062 1/10561 0/6728 1/3833
?/? c.1016C>T r.(?) p.(Ser339Leu) g.128927681C>T Copied from the Exome Variant Server SASH3_000063 1/10560 0/6728 1/3832
?/? c.1017G>A r.(=) p.(=) g.128927682G>A Copied from the Exome Variant Server SASH3_000064 2/10560 1/6728 1/3832
?/? c.1020A>G r.(=) p.(=) g.128927685A>G Copied from the Exome Variant Server SASH3_000065 1/10560 1/6728 0/3832
?/? c.1023C>G r.(=) p.(=) g.128927688C>G Copied from the Exome Variant Server SASH3_000066 1/10560 1/6728 0/3832
?/? c.1038G>A r.(=) p.(=) g.128927703G>A Copied from the Exome Variant Server SASH3_000067 2/10561 2/6727 0/3834
?/? c.1077C>T r.(=) p.(=) g.128927742C>T Copied from the Exome Variant Server SASH3_000068 1/10559 0/6726 1/3833
?/? c.1083C>T r.(=) p.(=) g.128927748C>T Copied from the Exome Variant Server SASH3_000069 5/10555 3/6723 2/3832
?/? c.1084G>A r.(?) p.(Ala362Thr) g.128927749G>A Copied from the Exome Variant Server SASH3_000070 1/10554 1/6722 0/3832
?/? c.1131C>T r.(=) p.(=) g.128927796C>T Copied from the Exome Variant Server SASH3_000072 1/10499 1/6695 0/3804
?/? c.*6C>T r.(=) p.(=) g.128927814C>T Copied from the Exome Variant Server SASH3_000073 1/10428 1/6644 0/3784
?/? c.*50G>C r.(=) p.(=) g.128927858G>C Copied from the Exome Variant Server SASH3_000071 345/9867 4/6278 341/3589
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