All transcript variants in gene SGK2

Information The variants shown are described using the NM_001199264.1 transcript reference sequence.

112 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.-23-179G>T r.(=) p.(=) g.42194934G>T Copied from the Exome Variant Server SGK2_000001 6/13006 0/8600 6/4406
?/? c.-23-169C>A r.(=) p.(=) g.42194944C>A Copied from the Exome Variant Server SGK2_000002 2/13006 0/8600 2/4406
?/? c.-23-150G>A r.(=) p.(=) g.42194963G>A Copied from the Exome Variant Server SGK2_000003 2/13006 2/8600 0/4406
?/? c.-23-141C>T r.(=) p.(=) g.42194972C>T Copied from the Exome Variant Server SGK2_000004 30/13006 0/8600 30/4406
?/? c.-23-138C>T r.(=) p.(=) g.42194975C>T Copied from the Exome Variant Server SGK2_000005 1/13006 0/8600 1/4406
?/? c.-23-137G>A r.(=) p.(=) g.42194976G>A Copied from the Exome Variant Server SGK2_000006 1/13006 1/8600 0/4406
?/? c.-23-124T>A r.(=) p.(=) g.42194989T>A Copied from the Exome Variant Server SGK2_000007 539/13006 489/8600 50/4406
?/? c.-23-98G>T r.(=) p.(=) g.42195015G>T Copied from the Exome Variant Server SGK2_000008 1/13006 1/8600 0/4406
?/? c.-23-94G>A r.(=) p.(=) g.42195019G>A Copied from the Exome Variant Server SGK2_000009 1/13006 0/8600 1/4406
?/? c.-23-71_-23-70insA r.(=) p.(=) g.42195042_42195043insA Copied from the Exome Variant Server SGK2_000010 1/12518 0/8254 1/4264
?/? c.-23-61A>G r.(=) p.(=) g.42195052A>G Copied from the Exome Variant Server SGK2_000011 1/13006 1/8600 0/4406
?/? c.-23-50T>C r.(=) p.(=) g.42195063T>C Copied from the Exome Variant Server SGK2_000012 1/13006 0/8600 1/4406
?/? c.-23-47C>T r.(=) p.(=) g.42195066C>T Copied from the Exome Variant Server SGK2_000013 1/13006 1/8600 0/4406
?/? c.-23-29C>T r.(=) p.(=) g.42195084C>T Copied from the Exome Variant Server SGK2_000014 15/13006 1/8600 14/4406
?/? c.-23-8C>T r.(=) p.(=) g.42195105C>T Copied from the Exome Variant Server SGK2_000015 1/13006 1/8600 0/4406
?/? c.28A>T r.(?) p.(Ser10Cys) g.42195163A>T Copied from the Exome Variant Server SGK2_000016 2/13006 0/8600 2/4406
?/? c.36G>C r.(?) p.(Gln12His) g.42195171G>C Copied from the Exome Variant Server SGK2_000017 2/13006 1/8600 1/4406
?/? c.36+7G>A r.(=) p.(=) g.42195178G>A Copied from the Exome Variant Server SGK2_000018 1/13006 1/8600 0/4406
?/? c.36+38T>G r.(=) p.(=) g.42195209T>G Copied from the Exome Variant Server SGK2_000019 10/13006 0/8600 10/4406
?/? c.37-45G>T r.(=) p.(=) g.42195663G>T Copied from the Exome Variant Server SGK2_000020 1/13006 0/8600 1/4406
?/? c.37-43C>T r.(=) p.(=) g.42195665C>T Copied from the Exome Variant Server SGK2_000021 16/13006 12/8600 4/4406
?/? c.54G>A r.(=) p.(=) g.42195725G>A Copied from the Exome Variant Server SGK2_000022 1/13006 1/8600 0/4406
?/? c.70C>T r.(?) p.(Pro24Ser) g.42195741C>T Copied from the Exome Variant Server SGK2_000023 1/13006 1/8600 0/4406
?/? c.83C>T r.(?) p.(Pro28Leu) g.42195754C>T Copied from the Exome Variant Server SGK2_000024 2/13006 0/8600 2/4406
?/? c.87-41A>T r.(=) p.(=) g.42196264A>T Copied from the Exome Variant Server SGK2_000025 3/13006 0/8600 3/4406
?/? c.87-36G>A r.(=) p.(=) g.42196269G>A Copied from the Exome Variant Server SGK2_000026 1/13006 1/8600 0/4406
?/? c.87-22G>A r.(=) p.(=) g.42196283G>A Copied from the Exome Variant Server SGK2_000027 1/13006 1/8600 0/4406
?/? c.99G>A r.(=) p.(=) g.42196317G>A Copied from the Exome Variant Server SGK2_000028 1/13006 1/8600 0/4406
?/? c.106G>A r.(?) p.(Asp36Asn) g.42196324G>A Copied from the Exome Variant Server SGK2_000029 1/13006 1/8600 0/4406
?/? c.107A>G r.(?) p.(Asp36Gly) g.42196325A>G Copied from the Exome Variant Server SGK2_000030 1/13006 1/8600 0/4406
?/? c.122T>A r.(?) p.(Ile41Asn) g.42196340T>A Copied from the Exome Variant Server SGK2_000031 1/13006 0/8600 1/4406
?/? c.138C>T r.(=) p.(=) g.42196356C>T Copied from the Exome Variant Server SGK2_000032 1/13006 1/8600 0/4406
?/? c.145-58A>G r.(=) p.(=) g.42196498A>G Copied from the Exome Variant Server SGK2_000033 169/4566 157/3182 12/1384
?/? c.145-42C>A r.(=) p.(=) g.42196514C>A Copied from the Exome Variant Server SGK2_000034 1/13006 1/8600 0/4406
?/? c.145-39A>G r.(=) p.(=) g.42196517A>G Copied from the Exome Variant Server SGK2_000035 1/13006 1/8600 0/4406
?/? c.145-6T>G r.(=) p.(=) g.42196550T>G Copied from the Exome Variant Server SGK2_000036 5837/13006 2838/8600 2999/4406
?/? c.145G>A r.(?) p.(Val49Ile) g.42196556G>A Copied from the Exome Variant Server SGK2_000037 1/13006 1/8600 0/4406
?/? c.161G>A r.(?) p.(Arg54His) g.42196572G>A Copied from the Exome Variant Server SGK2_000038 2/13006 1/8600 1/4406
?/? c.177G>A r.(=) p.(=) g.42196588G>A Copied from the Exome Variant Server SGK2_000039 3/13006 0/8600 3/4406
?/? c.182A>G r.(?) p.(Tyr61Cys) g.42196593A>G Copied from the Exome Variant Server SGK2_000040 3/13006 2/8600 1/4406
?/? c.228+8A>T r.(=) p.(=) g.42196647A>T Copied from the Exome Variant Server SGK2_000041 127/13006 119/8600 8/4406
?/? c.228+12C>T r.(=) p.(=) g.42196651C>T Copied from the Exome Variant Server SGK2_000042 1/13006 1/8600 0/4406
?/? c.228+25T>C r.(=) p.(=) g.42196664T>C Copied from the Exome Variant Server SGK2_000043 1/13006 1/8600 0/4406
?/? c.228+32T>G r.(=) p.(=) g.42196671T>G Copied from the Exome Variant Server SGK2_000044 134/13006 0/8600 134/4406
?/? c.228+46C>T r.(=) p.(=) g.42196685C>T Copied from the Exome Variant Server SGK2_000045 3/13006 3/8600 0/4406
?/? c.228+47G>A r.(=) p.(=) g.42196686G>A Copied from the Exome Variant Server SGK2_000046 31/13006 24/8600 7/4406
?/? c.288C>T r.(=) p.(=) g.42198084C>T Copied from the Exome Variant Server SGK2_000047 1/13006 1/8600 0/4406
?/? c.289G>C r.(?) p.(Val97Leu) g.42198085G>C Copied from the Exome Variant Server SGK2_000048 2/13006 0/8600 2/4406
?/? c.299G>A r.(?) p.(Arg100His) g.42198095G>A Copied from the Exome Variant Server SGK2_000049 1/13006 1/8600 0/4406
?/? c.351C>T r.(=) p.(=) g.42198147C>T Copied from the Exome Variant Server SGK2_000050 3/13006 2/8600 1/4406
?/? c.352G>A r.(?) p.(Gly118Arg) g.42198148G>A Copied from the Exome Variant Server SGK2_000051 1/13006 0/8600 1/4406
?/? c.360+17G>A r.(=) p.(=) g.42198173G>A Copied from the Exome Variant Server SGK2_000052 444/13006 370/8600 74/4406
?/? c.360+36C>T r.(=) p.(=) g.42198192C>T Copied from the Exome Variant Server SGK2_000053 1/13006 1/8600 0/4406
?/? c.360+41G>C r.(=) p.(=) g.42198197G>C Copied from the Exome Variant Server SGK2_000054 2/13006 0/8600 2/4406
?/? c.360+48A>C r.(=) p.(=) g.42198204A>C Copied from the Exome Variant Server SGK2_000055 14/13006 3/8600 11/4406
?/? c.361-48_361-43del r.(=) p.(=) g.42199209_42199214del Copied from the Exome Variant Server SGK2_000056 1/12518 1/8254 0/4264
?/? c.361-17C>G r.(=) p.(=) g.42199240C>G Copied from the Exome Variant Server SGK2_000057 2/13006 1/8600 1/4406
?/? c.388C>T r.(?) p.(Arg130Trp) g.42199284C>T Copied from the Exome Variant Server SGK2_000058 1/13006 1/8600 0/4406
?/? c.403C>A r.(=) p.(=) g.42199299C>A Copied from the Exome Variant Server SGK2_000059 1/13006 0/8600 1/4406
?/? c.404G>A r.(?) p.(Arg135Gln) g.42199300G>A Copied from the Exome Variant Server SGK2_000060 5/13006 2/8600 3/4406
?/? c.411G>A r.(=) p.(=) g.42199307G>A Copied from the Exome Variant Server SGK2_000061 36/13006 32/8600 4/4406
?/? c.431C>T r.(?) p.(Ala144Val) g.42199327C>T Copied from the Exome Variant Server SGK2_000062 1/13006 1/8600 0/4406
?/? c.473G>A r.(?) p.(Arg158Lys) g.42199369G>A Copied from the Exome Variant Server SGK2_000063 1/13006 1/8600 0/4406
?/? c.473+20C>T r.(=) p.(=) g.42199389C>T Copied from the Exome Variant Server SGK2_000064 34/13004 0/8598 34/4406
?/? c.473+45C>T r.(=) p.(=) g.42199414C>T Copied from the Exome Variant Server SGK2_000065 1/13006 1/8600 0/4406
?/? c.474-70G>A r.(=) p.(=) g.42199594G>A Copied from the Exome Variant Server SGK2_000066 1/4566 1/3182 0/1384
?/? c.474-49C>T r.(=) p.(=) g.42199615C>T Copied from the Exome Variant Server SGK2_000067 1/13006 1/8600 0/4406
?/? c.474-47C>A r.(=) p.(=) g.42199617C>A Copied from the Exome Variant Server SGK2_000068 313/13006 292/8600 21/4406
?/? c.474-21G>A r.(=) p.(=) g.42199643G>A Copied from the Exome Variant Server SGK2_000069 1/13006 1/8600 0/4406
?/? c.498C>A r.(=) p.(=) g.42199688C>A Copied from the Exome Variant Server SGK2_000070 1/13006 1/8600 0/4406
?/? c.510+3_510+4insGGTGGG r.spl? p.? g.42199703_42199704insGGTGGG Copied from the Exome Variant Server SGK2_000073 307/12518 284/8254 23/4264
?/? c.510+3_510+4insGGTGGGTG r.spl? p.? g.42199703_42199704insGGTGGGTG Copied from the Exome Variant Server SGK2_000072 1271/12518 420/8254 851/4264
?/? c.510+3_510+4insGGTGTGTG r.spl? p.? g.42199703_42199704insGGTGTGTG Copied from the Exome Variant Server SGK2_000071 23/12518 0/8254 23/4264
?/? c.510+10_510+11insGGGG r.(=) p.(=) g.42199710_42199711insGGGG Copied from the Exome Variant Server SGK2_000075 142/12518 10/8254 132/4264
?/? c.510+10_510+11insGGGT r.(=) p.(=) g.42199710_42199711insGGGT Copied from the Exome Variant Server SGK2_000074 1044/12518 427/8254 617/4264
?/? c.511-20A>G r.(=) p.(=) g.42200671A>G Copied from the Exome Variant Server SGK2_000076 1/11986 1/7860 0/4126
?/? c.511-11G>A r.(=) p.(=) g.42200680G>A Copied from the Exome Variant Server SGK2_000077 1/12184 1/7992 0/4192
?/? c.516C>T r.(=) p.(=) g.42200696C>T Copied from the Exome Variant Server SGK2_000078 1/12478 1/8204 0/4274
?/? c.520G>T r.(?) p.(Val174Leu) g.42200700G>T Copied from the Exome Variant Server SGK2_000079 1/12538 1/8258 0/4280
?/? c.528G>A r.(=) p.(=) g.42200708G>A Copied from the Exome Variant Server SGK2_000080 3/12614 3/8314 0/4300
?/? c.531del r.(?) p.(Phe178Leufs*8) g.42200711del Copied from the Exome Variant Server SGK2_000081 153/12122 104/7966 49/4156
?/? c.598-53G>T r.(=) p.(=) g.42203496G>T Copied from the Exome Variant Server SGK2_000082 1/4566 0/3182 1/1384
?/? c.598-35G>A r.(=) p.(=) g.42203514G>A Copied from the Exome Variant Server SGK2_000083 1/13006 0/8600 1/4406
?/? c.620G>T r.(?) p.(Arg207Leu) g.42203571G>T Copied from the Exome Variant Server SGK2_000084 1/13006 1/8600 0/4406
?/? c.647A>T r.(?) p.(Asp216Val) g.42203598A>T Copied from the Exome Variant Server SGK2_000085 1/13006 1/8600 0/4406
?/? c.693G>A r.(=) p.(=) g.42203644G>A Copied from the Exome Variant Server SGK2_000086 43/13006 41/8600 2/4406
?/? c.694-39G>A r.(=) p.(=) g.42204825G>A Copied from the Exome Variant Server SGK2_000087 1/13006 0/8600 1/4406
?/? c.710A>C r.(?) p.(Gln237Pro) g.42204880A>C Copied from the Exome Variant Server SGK2_000088 8/13006 0/8600 8/4406
?/? c.755A>G r.(?) p.(Gln252Arg) g.42204925A>G Copied from the Exome Variant Server SGK2_000089 1/13006 1/8600 0/4406
?/? c.766G>C r.(?) p.(Gly256Arg) g.42204936G>C Copied from the Exome Variant Server SGK2_000090 1/13006 0/8600 1/4406
?/? c.769C>T r.(?) p.(Arg257Trp) g.42204939C>T Copied from the Exome Variant Server SGK2_000091 2/13006 2/8600 0/4406
?/? c.849+16G>A r.(=) p.(=) g.42205035G>A Copied from the Exome Variant Server SGK2_000092 1/13006 0/8600 1/4406
?/? c.849+33A>G r.(=) p.(=) g.42205052A>G Copied from the Exome Variant Server SGK2_000093 13/13006 0/8600 13/4406
?/? c.849+42G>A r.(=) p.(=) g.42205061G>A Copied from the Exome Variant Server SGK2_000094 9294/13006 6703/8600 2591/4406
?/? c.850-51C>A r.(=) p.(=) g.42208561C>A Copied from the Exome Variant Server SGK2_000095 1/13006 0/8600 1/4406
?/? c.850-23C>A r.(=) p.(=) g.42208589C>A Copied from the Exome Variant Server SGK2_000097 1/13006 1/8600 0/4406
?/? c.850-23del r.(=) p.(=) g.42208589del Copied from the Exome Variant Server SGK2_000096 46/12518 42/8254 4/4264
?/? c.850-7C>T r.(=) p.(=) g.42208605C>T Copied from the Exome Variant Server SGK2_000098 1/13006 1/8600 0/4406
?/? c.861G>A r.(=) p.(=) g.42208623G>A Copied from the Exome Variant Server SGK2_000099 138/13006 1/8600 137/4406
?/? c.865C>T r.(?) p.(His289Tyr) g.42208627C>T Copied from the Exome Variant Server SGK2_000100 16/13006 14/8600 2/4406
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