Full data view for gene SSX2IP

Information The variants shown are described using the NM_014021.3 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
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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.-57G>C r.(=) p.(=) g.85136959C>G Copied from the Exome Variant Server SSX2IP_000095 1/4566 0/3182 1/1384 - - - - - - -
?/? c.-54T>C r.(=) p.(=) g.85136956A>G Copied from the Exome Variant Server SSX2IP_000093 1/4566 0/3182 1/1384 - - - - - - -
?/? c.-37A>G r.(=) p.(=) g.85136939T>C Copied from the Exome Variant Server SSX2IP_000091 2/13006 0/8600 2/4406 - - - - - - -
?/? c.-35C>A r.(=) p.(=) g.85136937G>T Copied from the Exome Variant Server SSX2IP_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-34T>C r.(=) p.(=) g.85136936A>G Copied from the Exome Variant Server SSX2IP_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1A>G r.? p.? g.85136902T>C Copied from the Exome Variant Server SSX2IP_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.6A>G r.(=) p.(=) g.85136897T>C Copied from the Exome Variant Server SSX2IP_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.19G>A r.(?) p.(Val7Ile) g.85136884C>T Copied from the Exome Variant Server SSX2IP_000083 4/13006 4/8600 0/4406 - - - - - - -
?/? c.24A>G r.(=) p.(=) g.85136879T>C Copied from the Exome Variant Server SSX2IP_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.44-48A>C r.(=) p.(=) g.85136546T>G Copied from the Exome Variant Server SSX2IP_000079 9/12920 0/8540 9/4380 - - - - - - -
?/? c.44-27_44-24del r.(=) p.(=) g.85136522_85136525del Copied from the Exome Variant Server SSX2IP_000077 28/12462 26/8216 2/4246 - - - - - - -
?/? c.55A>G r.(?) p.(Ile19Val) g.85136487T>C Copied from the Exome Variant Server SSX2IP_000075 1/13000 1/8594 0/4406 - - - - - - -
?/? c.63A>G r.(=) p.(=) g.85136479T>C Copied from the Exome Variant Server SSX2IP_000073 2/13002 1/8596 1/4406 - - - - - - -
?/? c.102C>T r.(=) p.(=) g.85136440G>A Copied from the Exome Variant Server SSX2IP_000071 3/13002 1/8596 2/4406 - - - - - - -
?/? c.116T>C r.(?) p.(Leu39Pro) g.85136426A>G Copied from the Exome Variant Server SSX2IP_000069 1/13002 1/8596 0/4406 - - - - - - -
?/? c.125C>T r.(?) p.(Ser42Leu) g.85136417G>A Copied from the Exome Variant Server SSX2IP_000067 1/13002 1/8596 0/4406 - - - - - - -
?/? c.137C>T r.(?) p.(Ser46Leu) g.85136405G>A Copied from the Exome Variant Server SSX2IP_000065 1/13002 1/8596 0/4406 - - - - - - -
?/? c.149A>G r.(?) p.(His50Arg) g.85136393T>C Copied from the Exome Variant Server SSX2IP_000063 1/13002 0/8596 1/4406 - - - - - - -
?/? c.158_159insT r.(?) p.(Ser54Glnfs*8) g.85136383_85136384insA Copied from the Exome Variant Server SSX2IP_000061 1/12516 1/8250 0/4266 - - - - - - -
?/? c.192G>A r.(=) p.(=) g.85136350C>T Copied from the Exome Variant Server SSX2IP_000059 1/12998 1/8592 0/4406 - - - - - - -
?/? c.210T>G r.(?) p.(Asp70Glu) g.85136332A>C Copied from the Exome Variant Server SSX2IP_000057 5/13000 0/8594 5/4406 - - - - - - -
?/? c.213+43A>G r.(=) p.(=) g.85136286T>C Copied from the Exome Variant Server SSX2IP_000055 1/12888 1/8538 0/4350 - - - - - - -
?/? c.214-48T>A r.(=) p.(=) g.85135624A>T Copied from the Exome Variant Server SSX2IP_000053 1/12842 0/8552 1/4290 - - - - - - -
?/? c.223A>G r.(?) p.(Thr75Ala) g.85135567T>C Copied from the Exome Variant Server SSX2IP_000051 1/13000 1/8594 0/4406 - - - - - - -
?/? c.318G>A r.(=) p.(=) g.85135472C>T Copied from the Exome Variant Server SSX2IP_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.332G>A r.(?) p.(Arg111Gln) g.85135458C>T Copied from the Exome Variant Server SSX2IP_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.379C>G r.(?) p.(Leu127Val) g.85135411G>C Copied from the Exome Variant Server SSX2IP_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.404A>G r.(?) p.(Gln135Arg) g.85135386T>C Copied from the Exome Variant Server SSX2IP_000092 1/13004 1/8598 0/4406 - - - - - - -
?/? c.426+11C>T r.(=) p.(=) g.85135353G>A Copied from the Exome Variant Server SSX2IP_000090 59/13004 0/8598 59/4406 - - - - - - -
?/? c.426+18A>G r.(=) p.(=) g.85135346T>C Copied from the Exome Variant Server SSX2IP_000088 11/13004 1/8598 10/4406 - - - - - - -
?/? c.426+38T>C r.(=) p.(=) g.85135326A>G Copied from the Exome Variant Server SSX2IP_000087 1/12996 1/8592 0/4404 - - - - - - -
?/? c.427-22A>G r.(=) p.(=) g.85131937T>C Copied from the Exome Variant Server SSX2IP_000084 4/13004 4/8598 0/4406 - - - - - - -
?/? c.475G>A r.(?) p.(Asp159Asn) g.85131867C>T Copied from the Exome Variant Server SSX2IP_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.491G>A r.(?) p.(Cys164Tyr) g.85131851C>T Copied from the Exome Variant Server SSX2IP_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.537+33G>C r.(=) p.(=) g.85131772C>G Copied from the Exome Variant Server SSX2IP_000078 2/13004 2/8598 0/4406 - - - - - - -
?/? c.538-42G>A r.(=) p.(=) g.85130277C>T Copied from the Exome Variant Server SSX2IP_000076 1/12994 1/8590 0/4404 - - - - - - -
?/? c.538-30T>A r.(=) p.(=) g.85130265A>T Copied from the Exome Variant Server SSX2IP_000074 2/12996 0/8592 2/4404 - - - - - - -
?/? c.593T>C r.(?) p.(Met198Thr) g.85130180A>G Copied from the Exome Variant Server SSX2IP_000072 3/12998 3/8594 0/4404 - - - - - - -
?/? c.673+17G>A r.(=) p.(=) g.85130083C>T Copied from the Exome Variant Server SSX2IP_000070 3/13002 3/8596 0/4406 - - - - - - -
?/? c.674-64C>T r.(=) p.(=) g.85128277G>A Copied from the Exome Variant Server SSX2IP_000068 1/4566 1/3182 0/1384 - - - - - - -
?/? c.674-49T>C r.(=) p.(=) g.85128262A>G Copied from the Exome Variant Server SSX2IP_000066 9470/12998 6624/8596 2846/4402 - - - - - - -
?/? c.674-25T>C r.(=) p.(=) g.85128238A>G Copied from the Exome Variant Server SSX2IP_000064 2/13004 1/8600 1/4404 - - - - - - -
?/? c.749+18T>C r.(=) p.(=) g.85128120A>G Copied from the Exome Variant Server SSX2IP_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.750-9C>G r.(=) p.(=) g.85128067G>C Copied from the Exome Variant Server SSX2IP_000060 1/13004 1/8598 0/4406 - - - - - - -
?/? c.774T>C r.(=) p.(=) g.85128034A>G Copied from the Exome Variant Server SSX2IP_000058 2/13006 0/8600 2/4406 - - - - - - -
?/? c.881C>T r.(?) p.(Pro294Leu) g.85127927G>A Copied from the Exome Variant Server SSX2IP_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.895C>G r.(?) p.(Pro299Ala) g.85127913G>C Copied from the Exome Variant Server SSX2IP_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.928-42G>T r.(=) p.(=) g.85124193C>A Copied from the Exome Variant Server SSX2IP_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.928-35A>G r.(=) p.(=) g.85124186T>C Copied from the Exome Variant Server SSX2IP_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.928-31G>T r.(=) p.(=) g.85124182C>A Copied from the Exome Variant Server SSX2IP_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.928-24C>G r.(=) p.(=) g.85124175G>C Copied from the Exome Variant Server SSX2IP_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.928-22C>T r.(=) p.(=) g.85124173G>A Copied from the Exome Variant Server SSX2IP_000045 2/13006 2/8600 0/4406 - - - - - - -
?/? c.928-9C>T r.(=) p.(=) g.85124160G>A Copied from the Exome Variant Server SSX2IP_000044 14/13006 0/8600 14/4406 - - - - - - -
?/? c.937G>A r.(?) p.(Asp313Asn) g.85124142C>T Copied from the Exome Variant Server SSX2IP_000043 5/13006 5/8600 0/4406 - - - - - - -
?/? c.954C>T r.(=) p.(=) g.85124125G>A Copied from the Exome Variant Server SSX2IP_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.962T>A r.(?) p.(Leu321Gln) g.85124117A>T Copied from the Exome Variant Server SSX2IP_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.972G>T r.(?) p.(Glu324Asp) g.85124107C>A Copied from the Exome Variant Server SSX2IP_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1056T>C r.(=) p.(=) g.85124023A>G Copied from the Exome Variant Server SSX2IP_000039 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1078+3A>G r.spl? p.? g.85123998T>C Copied from the Exome Variant Server SSX2IP_000038 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1078+29G>A r.(=) p.(=) g.85123972C>T Copied from the Exome Variant Server SSX2IP_000037 34/13006 1/8600 33/4406 - - - - - - -
?/? c.1159G>A r.(?) p.(Glu387Lys) g.85122087C>T Copied from the Exome Variant Server SSX2IP_000036 2/13004 2/8600 0/4404 - - - - - - -
?/? c.1204C>G r.(?) p.(Gln402Glu) g.85122042G>C Copied from the Exome Variant Server SSX2IP_000035 1/13000 0/8596 1/4404 - - - - - - -
?/? c.1215+5A>T r.spl? p.? g.85122026T>A Copied from the Exome Variant Server SSX2IP_000034 1/13000 1/8598 0/4402 - - - - - - -
?/? c.1215+48T>C r.(=) p.(=) g.85121983A>G Copied from the Exome Variant Server SSX2IP_000097 1153/12988 435/8598 718/4390 - - - - - - -
?/? c.1216-45G>A r.(=) p.(=) g.85121733C>T Copied from the Exome Variant Server SSX2IP_000096 1/12982 1/8588 0/4394 - - - - - - -
?/? c.1216-42G>A r.(=) p.(=) g.85121730C>T Copied from the Exome Variant Server SSX2IP_000030 1/12992 0/8592 1/4400 - - - - - - -
?/? c.1216-37G>T r.(=) p.(=) g.85121725C>A Copied from the Exome Variant Server SSX2IP_000028 2/12990 2/8592 0/4398 - - - - - - -
?/? c.1216-22_1216-21insA r.(=) p.(=) g.85121709_85121710insT Copied from the Exome Variant Server SSX2IP_000026 7/12512 7/8248 0/4264 - - - - - - -
?/? c.1263A>G r.(=) p.(=) g.85121641T>C Copied from the Exome Variant Server SSX2IP_000024 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1291C>T r.(?) p.(Arg431Cys) g.85121613G>A Copied from the Exome Variant Server SSX2IP_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1303G>C r.(?) p.(Glu435Gln) g.85121601C>G Copied from the Exome Variant Server SSX2IP_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1368C>T r.(=) p.(=) g.85121536G>A Copied from the Exome Variant Server SSX2IP_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1369G>A r.(?) p.(Ala457Thr) g.85121535C>T Copied from the Exome Variant Server SSX2IP_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1376G>T r.(?) p.(Arg459Leu) g.85121528C>A Copied from the Exome Variant Server SSX2IP_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1417A>T r.(?) p.(Ser473Cys) g.85117653T>A Copied from the Exome Variant Server SSX2IP_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1419T>C r.(=) p.(=) g.85117651A>G Copied from the Exome Variant Server SSX2IP_000010 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1504+13T>C r.(=) p.(=) g.85117553A>G Copied from the Exome Variant Server SSX2IP_000033 2/13004 2/8598 0/4406 - - - - - - -
?/? c.1504+33T>C r.(=) p.(=) g.85117533A>G Copied from the Exome Variant Server SSX2IP_000032 1/13000 0/8596 1/4404 - - - - - - -
?/? c.1505-47T>C r.(=) p.(=) g.85116257A>G Copied from the Exome Variant Server SSX2IP_000031 1/12988 1/8596 0/4392 - - - - - - -
?/? c.1505-6C>A r.(=) p.(=) g.85116216G>T Copied from the Exome Variant Server SSX2IP_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1573G>C r.(?) p.(Gly525Arg) g.85116142C>G Copied from the Exome Variant Server SSX2IP_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1575G>A r.(=) p.(=) g.85116140C>T Copied from the Exome Variant Server SSX2IP_000025 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1581A>G r.(=) p.(=) g.85116134T>C Copied from the Exome Variant Server SSX2IP_000022 17/13006 16/8600 1/4406 - - - - - - -
?/? c.1588A>G r.(?) p.(Met530Val) g.85116127T>C Copied from the Exome Variant Server SSX2IP_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1601C>T r.(?) p.(Thr534Ile) g.85116114G>A Copied from the Exome Variant Server SSX2IP_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1649G>A r.(?) p.(Arg550His) g.85116066C>T Copied from the Exome Variant Server SSX2IP_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1660T>A r.(?) p.(Ser554Thr) g.85116055A>T Copied from the Exome Variant Server SSX2IP_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1670+20C>A r.(=) p.(=) g.85116025G>T Copied from the Exome Variant Server SSX2IP_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1670+44C>T r.(=) p.(=) g.85116001G>A Copied from the Exome Variant Server SSX2IP_000011 23/13006 0/8600 23/4406 - - - - - - -
?/? c.1670+408_1670+410del r.(=) p.(=) g.85115635_85115637del Copied from the Exome Variant Server SSX2IP_000009 73/6428 1/4334 72/2094 - - - - - - -
?/? c.1671-35A>T r.(=) p.(=) g.85113325T>A Copied from the Exome Variant Server SSX2IP_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1686G>A r.(=) p.(=) g.85113275C>T Copied from the Exome Variant Server SSX2IP_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1732T>C r.(?) p.(Cys578Arg) g.85113229A>G Copied from the Exome Variant Server SSX2IP_000006 6722/13006 5425/8600 1297/4406 - - - - - - -
?/? c.1757C>T r.(?) p.(Ala586Val) g.85113204G>A Copied from the Exome Variant Server SSX2IP_000005 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1758A>G r.(=) p.(=) g.85113203T>C Copied from the Exome Variant Server SSX2IP_000004 10110/13004 7289/8598 2821/4406 - - - - - - -
?/? c.1784G>A r.(?) p.(Cys595Tyr) g.85113177C>T Copied from the Exome Variant Server SSX2IP_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*29T>C r.(=) p.(=) g.85113087A>G Copied from the Exome Variant Server SSX2IP_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*32G>T r.(=) p.(=) g.85113084C>A Copied from the Exome Variant Server SSX2IP_000001 1/13006 1/8600 0/4406 - - - - - - -
Legend