Full data view for gene SSX1

Information The variants shown are described using the NM_005635.2 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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.-20-2A>T r.(=) p.(=) g.48116655A>T Copied from the Exome Variant Server SSX1_000001 1/10562 1/6727 0/3835 - - - - - - -
?/? c.-18G>C r.(=) p.(=) g.48116659G>C Copied from the Exome Variant Server SSX1_000002 6/10562 0/6727 6/3835 - - - - - - -
?/? c.-13T>A r.(=) p.(=) g.48116664T>A Copied from the Exome Variant Server SSX1_000003 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1A>G r.? p.? g.48116677A>G Copied from the Exome Variant Server SSX1_000004 1/10562 1/6727 0/3835 - - - - - - -
?/? c.12C>T r.(=) p.(=) g.48116688C>T Copied from the Exome Variant Server SSX1_000005 2/10562 2/6727 0/3835 - - - - - - -
?/? c.13G>A r.(?) p.(Asp5Asn) g.48116689G>A Copied from the Exome Variant Server SSX1_000006 2/10562 2/6727 0/3835 - - - - - - -
?/? c.14A>C r.(?) p.(Asp5Ala) g.48116690A>C Copied from the Exome Variant Server SSX1_000007 1/10562 1/6727 0/3835 - - - - - - -
?/? c.60G>A r.(=) p.(=) g.48116736G>A Copied from the Exome Variant Server SSX1_000008 1/10562 0/6727 1/3835 - - - - - - -
?/? c.64A>C r.(?) p.(Ser22Arg) g.48116740A>C Copied from the Exome Variant Server SSX1_000009 1/10562 1/6727 0/3835 - - - - - - -
?/? c.69+1G>A r.spl? p.? g.48116746G>A Copied from the Exome Variant Server SSX1_000010 1/10562 1/6727 0/3835 - - - - - - -
?/? c.69+25G>A r.(=) p.(=) g.48116770G>A Copied from the Exome Variant Server SSX1_000011 73/10562 68/6727 5/3835 - - - - - - -
?/? c.69+41C>G r.(=) p.(=) g.48116786C>G Copied from the Exome Variant Server SSX1_000012 4063/10559 3024/6724 1039/3835 - - - - - - -
?/? c.69+57del r.(=) p.(=) g.48116802del Copied from the Exome Variant Server SSX1_000013 2/10198 0/6479 2/3719 - - - - - - -
?/? c.71C>A r.(?) p.(Ala24Asp) g.48117182C>A Copied from the Exome Variant Server SSX1_000014 1/10559 1/6726 0/3833 - - - - - - -
?/? c.74T>C r.(?) p.(Phe25Ser) g.48117185T>C Copied from the Exome Variant Server SSX1_000015 1/10559 1/6726 0/3833 - - - - - - -
?/? c.82A>G r.(?) p.(Ile28Val) g.48117193A>G Copied from the Exome Variant Server SSX1_000016 1/10560 0/6727 1/3833 - - - - - - -
?/? c.96C>G r.(?) p.(Phe32Leu) g.48117207C>G Copied from the Exome Variant Server SSX1_000017 1/10560 1/6727 0/3833 - - - - - - -
?/? c.107A>G r.(?) p.(Glu36Gly) g.48117218A>G Copied from the Exome Variant Server SSX1_000018 3/10558 0/6725 3/3833 - - - - - - -
?/? c.129G>A r.(=) p.(=) g.48117240G>A Copied from the Exome Variant Server SSX1_000019 1/10559 1/6727 0/3832 - - - - - - -
?/? c.138C>A r.(=) p.(=) g.48117249C>A Copied from the Exome Variant Server SSX1_000020 1/10561 1/6727 0/3834 - - - - - - -
?/? c.145G>A r.(?) p.(Val49Met) g.48117256G>A Copied from the Exome Variant Server SSX1_000021 1/10559 1/6727 0/3832 - - - - - - -
?/? c.146T>A r.(?) p.(Val49Glu) g.48117257T>A Copied from the Exome Variant Server SSX1_000022 1/10560 1/6727 0/3833 - - - - - - -
?/? c.149A>G r.(?) p.(Tyr50Cys) g.48117260A>G Copied from the Exome Variant Server SSX1_000023 29/10561 26/6727 3/3834 - - - - - - -
?/? c.172A>G r.(?) p.(Met58Val) g.48117283A>G Copied from the Exome Variant Server SSX1_000024 1/10560 1/6726 0/3834 - - - - - - -
?/? c.181C>G r.(?) p.(Leu61Val) g.48117292C>G Copied from the Exome Variant Server SSX1_000025 2/10558 2/6724 0/3834 - - - - - - -
?/? c.184G>A r.(?) p.(Gly62Ser) g.48117295G>A Copied from the Exome Variant Server SSX1_000026 1/10558 1/6724 0/3834 - - - - - - -
?/? c.184+4A>G r.spl? p.? g.48117299A>G Copied from the Exome Variant Server SSX1_000027 9/10557 6/6724 3/3833 - - - - - - -
?/? c.185-41A>G r.(=) p.(=) g.48117930A>G Copied from the Exome Variant Server SSX1_000028 2/10562 2/6727 0/3835 - - - - - - -
?/? c.185-9T>G r.(=) p.(=) g.48117962T>G Copied from the Exome Variant Server SSX1_000029 1/10562 1/6727 0/3835 - - - - - - -
?/? c.211A>G r.(?) p.(Met71Val) g.48117997A>G Copied from the Exome Variant Server SSX1_000030 1/10562 0/6727 1/3835 - - - - - - -
?/? c.212T>C r.(?) p.(Met71Thr) g.48117998T>C Copied from the Exome Variant Server SSX1_000031 1/10562 1/6727 0/3835 - - - - - - -
?/? c.280+9A>G r.(=) p.(=) g.48118075A>G Copied from the Exome Variant Server SSX1_000032 1/10562 0/6727 1/3835 - - - - - - -
?/? c.280+41C>A r.(=) p.(=) g.48118107C>A Copied from the Exome Variant Server SSX1_000033 2/10562 2/6727 0/3835 - - - - - - -
?/? c.281-65G>A r.(=) p.(=) g.48121136G>A Copied from the Exome Variant Server SSX1_000034 1/3600 0/2391 1/1209 - - - - - - -
?/? c.281-10T>C r.(=) p.(=) g.48121191T>C Copied from the Exome Variant Server SSX1_000035 1/10562 1/6727 0/3835 - - - - - - -
?/? c.292_293insA r.(?) p.(Met99Aspfs*24) g.48121212_48121213insA Copied from the Exome Variant Server SSX1_000036 1/10204 1/6483 0/3721 - - - - - - -
?/? c.302T>G r.(?) p.(Phe101Cys) g.48121222T>G Copied from the Exome Variant Server SSX1_000037 432/10562 401/6727 31/3835 - - - - - - -
?/? c.304G>A r.(?) p.(Gly102Ser) g.48121224G>A Copied from the Exome Variant Server SSX1_000038 1/10562 1/6727 0/3835 - - - - - - -
?/? c.309G>T r.(?) p.(Arg103Ser) g.48121229G>T Copied from the Exome Variant Server SSX1_000039 1/10562 1/6727 0/3835 - - - - - - -
?/? c.324C>T r.(=) p.(=) g.48121244C>T Copied from the Exome Variant Server SSX1_000040 1/10562 0/6727 1/3835 - - - - - - -
?/? c.326C>T r.(?) p.(Pro109Leu) g.48121246C>T Copied from the Exome Variant Server SSX1_000041 1/10562 0/6727 1/3835 - - - - - - -
?/? c.330+36T>G r.(=) p.(=) g.48121286T>G Copied from the Exome Variant Server SSX1_000042 1/10562 1/6727 0/3835 - - - - - - -
?/? c.331-32T>C r.(=) p.(=) g.48123185T>C Copied from the Exome Variant Server SSX1_000043 1/10562 1/6727 0/3835 - - - - - - -
?/? c.331-29T>A r.(=) p.(=) g.48123188T>A Copied from the Exome Variant Server SSX1_000044 1/10562 1/6727 0/3835 - - - - - - -
?/? c.331-21T>A r.(=) p.(=) g.48123196T>A Copied from the Exome Variant Server SSX1_000045 4/10562 0/6727 4/3835 - - - - - - -
?/? c.347C>G r.(?) p.(Pro116Arg) g.48123233C>G Copied from the Exome Variant Server SSX1_000046 1/10562 1/6727 0/3835 - - - - - - -
?/? c.357C>T r.(=) p.(=) g.48123243C>T Copied from the Exome Variant Server SSX1_000047 1/10562 0/6727 1/3835 - - - - - - -
?/? c.358G>A r.(?) p.(Glu120Lys) g.48123244G>A Copied from the Exome Variant Server SSX1_000048 1/10562 0/6727 1/3835 - - - - - - -
?/? c.368C>T r.(?) p.(Ser123Leu) g.48123254C>T Copied from the Exome Variant Server SSX1_000049 404/10562 3/6727 401/3835 - - - - - - -
?/? c.420del r.(?) p.(Pro142Glnfs*34) g.48123306del Copied from the Exome Variant Server SSX1_000050 3/10198 2/6481 1/3717 - - - - - - -
?/? c.422C>A r.(?) p.(Pro141His) g.48123308C>A Copied from the Exome Variant Server SSX1_000051 4/10562 3/6727 1/3835 - - - - - - -
?/? c.437A>G r.(?) p.(Asn146Ser) g.48123323A>G Copied from the Exome Variant Server SSX1_000052 1/10562 1/6727 0/3835 - - - - - - -
?/? c.438del r.(?) p.(Asn146Lysfs*30) g.48123324del Copied from the Exome Variant Server SSX1_000053 1/10198 1/6481 0/3717 - - - - - - -
?/? c.446_448del r.(?) p.(Lys150del) g.48123332_48123334del Copied from the Exome Variant Server SSX1_000054 2/10198 2/6481 0/3717 - - - - - - -
?/? c.448A>G r.(?) p.(Lys150Glu) g.48123334A>G Copied from the Exome Variant Server SSX1_000055 1/10562 1/6727 0/3835 - - - - - - -
?/? c.462A>G r.(=) p.(=) g.48123348A>G Copied from the Exome Variant Server SSX1_000056 1/10562 1/6727 0/3835 - - - - - - -
?/? c.466+5G>A r.spl? p.? g.48123357G>A Copied from the Exome Variant Server SSX1_000057 1/10562 1/6727 0/3835 - - - - - - -
?/? c.466+13G>T r.(=) p.(=) g.48123365G>T Copied from the Exome Variant Server SSX1_000058 1/10562 1/6727 0/3835 - - - - - - -
?/? c.467-45C>T r.(=) p.(=) g.48125677C>T Copied from the Exome Variant Server SSX1_000059 1/6962 1/4336 0/2626 - - - - - - -
?/? c.467-38G>C r.(=) p.(=) g.48125684G>C Copied from the Exome Variant Server SSX1_000060 1/6962 1/4336 0/2626 - - - - - - -
?/? c.467-31A>C r.(=) p.(=) g.48125691A>C Copied from the Exome Variant Server SSX1_000061 207/6962 0/4336 207/2626 - - - - - - -
?/? c.467-28C>G r.(=) p.(=) g.48125694C>G Copied from the Exome Variant Server SSX1_000062 1/6962 1/4336 0/2626 - - - - - - -
?/? c.475_476insG r.(?) p.(Lys161Glufs*10) g.48125730_48125731insG Copied from the Exome Variant Server SSX1_000063 1/10203 1/6482 0/3721 - - - - - - -
?/? c.505C>A r.(?) p.(Arg169Ser) g.48125760C>A Copied from the Exome Variant Server SSX1_000064 7/6958 0/4332 7/2626 - - - - - - -
?/? c.506G>A r.(?) p.(Arg169His) g.48125761G>A Copied from the Exome Variant Server SSX1_000065 1/6958 1/4332 0/2626 - - - - - - -
?/? c.519G>A r.(=) p.(=) g.48125774G>A Copied from the Exome Variant Server SSX1_000066 1/6958 0/4332 1/2626 - - - - - - -
?/? c.543T>C r.(=) p.(=) g.48125798T>C Copied from the Exome Variant Server SSX1_000067 3289/6962 2064/4336 1225/2626 - - - - - - -
?/? c.544G>A r.(?) p.(Asp182Asn) g.48125799G>A Copied from the Exome Variant Server SSX1_000068 1/6962 0/4336 1/2626 - - - - - - -
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