All transcript variants in gene PLEKHG6

Information The variants shown are described using the NM_018173.3 transcript reference sequence.

224 entries on 3 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.-14C>T r.(=) p.(=) g.6421379C>T Copied from the Exome Variant Server PLEKHG6_000001 187/13006 2/8600 185/4406
?/? c.3G>A r.? p.? g.6421395G>A Copied from the Exome Variant Server PLEKHG6_000002 2/13006 2/8600 0/4406
?/? c.13G>A r.(?) p.(Gly5Ser) g.6421405G>A Copied from the Exome Variant Server PLEKHG6_000003 1/13006 0/8600 1/4406
?/? c.22C>T r.(?) p.(His8Tyr) g.6421414C>T Copied from the Exome Variant Server PLEKHG6_000004 51/13006 0/8600 51/4406
?/? c.30C>T r.(=) p.(=) g.6421422C>T Copied from the Exome Variant Server PLEKHG6_000005 1/13006 1/8600 0/4406
?/? c.31C>T r.(?) p.(Pro11Ser) g.6421423C>T Copied from the Exome Variant Server PLEKHG6_000006 1/13006 1/8600 0/4406
?/? c.45C>T r.(=) p.(=) g.6421437C>T Copied from the Exome Variant Server PLEKHG6_000007 9/13006 0/8600 9/4406
?/? c.55C>T r.(?) p.(Arg19Cys) g.6421447C>T Copied from the Exome Variant Server PLEKHG6_000008 2/13006 0/8600 2/4406
?/? c.56G>A r.(?) p.(Arg19His) g.6421448G>A Copied from the Exome Variant Server PLEKHG6_000009 2/13006 2/8600 0/4406
?/? c.77G>A r.(?) p.(Arg26Gln) g.6421469G>A Copied from the Exome Variant Server PLEKHG6_000010 1/13006 1/8600 0/4406
?/? c.83G>A r.(?) p.(Arg28Gln) g.6421475G>A Copied from the Exome Variant Server PLEKHG6_000011 2/13006 2/8600 0/4406
?/? c.103G>A r.(?) p.(Ala35Thr) g.6421495G>A Copied from the Exome Variant Server PLEKHG6_000012 7571/13006 4925/8600 2646/4406
?/? c.122G>A r.(?) p.(Arg41Gln) g.6421514G>A Copied from the Exome Variant Server PLEKHG6_000013 3/13006 0/8600 3/4406
?/? c.127T>A r.(?) p.(Tyr43Asn) g.6421519T>A Copied from the Exome Variant Server PLEKHG6_000014 6/13006 6/8600 0/4406
?/? c.138+41G>A r.(=) p.(=) g.6421571G>A Copied from the Exome Variant Server PLEKHG6_000015 26/13006 24/8600 2/4406
?/? c.139-424A>G r.(=) p.(=) g.6422371A>G Copied from the Exome Variant Server PLEKHG6_000016 2/4566 0/3182 2/1384
?/? c.139-420G>A r.(=) p.(=) g.6422375G>A Copied from the Exome Variant Server PLEKHG6_000017 1/4566 1/3182 0/1384
?/? c.139-387C>T r.(=) p.(=) g.6422408C>T Copied from the Exome Variant Server PLEKHG6_000018 1/4566 0/3182 1/1384
?/? c.139-386G>A r.(=) p.(=) g.6422409G>A Copied from the Exome Variant Server PLEKHG6_000019 2/4566 1/3182 1/1384
?/? c.139-379C>T r.(=) p.(=) g.6422416C>T Copied from the Exome Variant Server PLEKHG6_000020 1/4566 0/3182 1/1384
?/? c.139-25A>G r.(=) p.(=) g.6422770A>G Copied from the Exome Variant Server PLEKHG6_000021 1/13006 1/8600 0/4406
?/? c.139-24G>A r.(=) p.(=) g.6422771G>A Copied from the Exome Variant Server PLEKHG6_000022 1/13006 1/8600 0/4406
?/? c.139-18C>T r.(=) p.(=) g.6422777C>T Copied from the Exome Variant Server PLEKHG6_000023 1/13006 1/8600 0/4406
?/? c.139-5C>T r.spl? p.? g.6422790C>T Copied from the Exome Variant Server PLEKHG6_000024 57/13006 0/8600 57/4406
?/? c.149G>A r.(?) p.(Arg50His) g.6422805G>A Copied from the Exome Variant Server PLEKHG6_000025 1/13006 1/8600 0/4406
?/? c.155G>A r.(?) p.(Arg52His) g.6422811G>A Copied from the Exome Variant Server PLEKHG6_000026 3/13006 3/8600 0/4406
?/? c.162G>T r.(?) p.(Gln54His) g.6422818G>T Copied from the Exome Variant Server PLEKHG6_000027 1/13006 1/8600 0/4406
?/? c.163C>T r.(?) p.(Gln55*) g.6422819C>T Copied from the Exome Variant Server PLEKHG6_000028 2/13006 2/8600 0/4406
?/? c.180C>T r.(=) p.(=) g.6422836C>T Copied from the Exome Variant Server PLEKHG6_000029 1/13006 1/8600 0/4406
?/? c.200G>A r.(?) p.(Arg67Gln) g.6422856G>A Copied from the Exome Variant Server PLEKHG6_000030 3/13006 1/8600 2/4406
?/? c.224G>A r.(?) p.(Arg75Gln) g.6422880G>A Copied from the Exome Variant Server PLEKHG6_000031 1/13006 1/8600 0/4406
?/? c.238G>A r.(?) p.(Glu80Lys) g.6422894G>A Copied from the Exome Variant Server PLEKHG6_000032 1/13006 1/8600 0/4406
?/? c.240G>C r.(?) p.(Glu80Asp) g.6422896G>C Copied from the Exome Variant Server PLEKHG6_000033 1/13006 0/8600 1/4406
?/? c.245G>A r.(?) p.(Arg82Lys) g.6422901G>A Copied from the Exome Variant Server PLEKHG6_000034 6/13006 1/8600 5/4406
?/? c.270C>T r.(=) p.(=) g.6422926C>T Copied from the Exome Variant Server PLEKHG6_000035 1/13006 0/8600 1/4406
?/? c.286A>G r.(?) p.(Lys96Glu) g.6422942A>G Copied from the Exome Variant Server PLEKHG6_000036 2/13004 0/8598 2/4406
?/? c.289C>T r.(?) p.(Leu97Phe) g.6422945C>T Copied from the Exome Variant Server PLEKHG6_000037 1/13004 0/8598 1/4406
?/? c.294+28C>G r.(=) p.(=) g.6422978C>G Copied from the Exome Variant Server PLEKHG6_000038 4/12996 4/8590 0/4406
?/? c.294+36C>T r.(=) p.(=) g.6422986C>T Copied from the Exome Variant Server PLEKHG6_000039 15/12990 13/8586 2/4404
?/? c.294+38G>T r.(=) p.(=) g.6422988G>T Copied from the Exome Variant Server PLEKHG6_000040 878/12978 611/8576 267/4402
?/? c.295-4C>T r.spl? p.? g.6424167C>T Copied from the Exome Variant Server PLEKHG6_000041 1/13006 0/8600 1/4406
?/? c.312T>C r.(=) p.(=) g.6424188T>C Copied from the Exome Variant Server PLEKHG6_000042 335/13006 3/8600 332/4406
?/? c.326G>A r.(?) p.(Arg109Lys) g.6424202G>A Copied from the Exome Variant Server PLEKHG6_000043 1/13006 1/8600 0/4406
?/? c.359G>A r.(?) p.(Arg120Gln) g.6424235G>A Copied from the Exome Variant Server PLEKHG6_000044 5/13006 0/8600 5/4406
?/? c.360G>C r.(=) p.(=) g.6424236G>C Copied from the Exome Variant Server PLEKHG6_000045 1/13006 1/8600 0/4406
?/? c.413G>C r.(?) p.(Gly138Ala) g.6424289G>C Copied from the Exome Variant Server PLEKHG6_000046 1/13006 0/8600 1/4406
?/? c.424G>A r.(?) p.(Glu142Lys) g.6424300G>A Copied from the Exome Variant Server PLEKHG6_000047 1/13006 0/8600 1/4406
?/? c.459+17C>G r.(=) p.(=) g.6424352C>G Copied from the Exome Variant Server PLEKHG6_000048 1/13004 1/8600 0/4404
?/? c.459+36C>T r.(=) p.(=) g.6424371C>T Copied from the Exome Variant Server PLEKHG6_000049 1/12996 0/8598 1/4398
?/? c.460-28A>T r.(=) p.(=) g.6424692A>T Copied from the Exome Variant Server PLEKHG6_000050 1/13006 1/8600 0/4406
?/? c.460-25T>C r.(=) p.(=) g.6424695T>C Copied from the Exome Variant Server PLEKHG6_000051 550/13006 1/8600 549/4406
?/? c.472G>A r.(?) p.(Glu158Lys) g.6424732G>A Copied from the Exome Variant Server PLEKHG6_000052 1/13006 1/8600 0/4406
?/? c.478T>C r.(?) p.(Cys160Arg) g.6424738T>C Copied from the Exome Variant Server PLEKHG6_000053 1/13006 1/8600 0/4406
?/? c.523A>T r.(?) p.(Ile175Phe) g.6424783A>T Copied from the Exome Variant Server PLEKHG6_000054 1/13006 0/8600 1/4406
?/? c.529G>A r.(?) p.(Val177Met) g.6424789G>A Copied from the Exome Variant Server PLEKHG6_000055 1/13006 1/8600 0/4406
?/? c.554A>C r.(?) p.(Asp185Ala) g.6424814A>C Copied from the Exome Variant Server PLEKHG6_000056 1/13006 0/8600 1/4406
?/? c.555+6C>A r.(=) p.(=) g.6424821C>A Copied from the Exome Variant Server PLEKHG6_000057 1/13002 0/8600 1/4402
?/? c.555+10C>A r.(=) p.(=) g.6424825C>A Copied from the Exome Variant Server PLEKHG6_000058 1/12998 0/8598 1/4400
?/? c.555+24C>G r.(=) p.(=) g.6424839C>G Copied from the Exome Variant Server PLEKHG6_000059 504/12970 9/8576 495/4394
?/? c.555+25C>T r.(=) p.(=) g.6424840C>T Copied from the Exome Variant Server PLEKHG6_000060 1/12956 1/8566 0/4390
?/? c.555+26G>A r.(=) p.(=) g.6424841G>A Copied from the Exome Variant Server PLEKHG6_000061 2/12940 2/8560 0/4380
?/? c.556-52C>T r.(=) p.(=) g.6424983C>T Copied from the Exome Variant Server PLEKHG6_000062 19/9984 18/6972 1/3012
?/? c.556-21C>A r.(=) p.(=) g.6425014C>A Copied from the Exome Variant Server PLEKHG6_000063 6/12884 0/8534 6/4350
?/? c.565G>A r.(?) p.(Ala189Thr) g.6425044G>A Copied from the Exome Variant Server PLEKHG6_000064 2/12956 0/8572 2/4384
?/? c.575T>A r.(?) p.(Leu192Gln) g.6425054T>A Copied from the Exome Variant Server PLEKHG6_000065 1/12964 0/8576 1/4388
?/? c.586C>T r.(?) p.(Arg196*) g.6425065C>T Copied from the Exome Variant Server PLEKHG6_000066 1/12974 1/8582 0/4392
?/? c.602T>C r.(?) p.(Met201Thr) g.6425081T>C Copied from the Exome Variant Server PLEKHG6_000067 5/12976 0/8582 5/4394
?/? c.606+15A>G r.(=) p.(=) g.6425100A>G Copied from the Exome Variant Server PLEKHG6_000068 77/12964 1/8574 76/4390
?/? c.606+37C>T r.(=) p.(=) g.6425122C>T Copied from the Exome Variant Server PLEKHG6_000069 2/12928 0/8554 2/4374
?/? c.606+38G>A r.(=) p.(=) g.6425123G>A Copied from the Exome Variant Server PLEKHG6_000070 1/12926 1/8554 0/4372
?/? c.659G>A r.(?) p.(Arg220Gln) g.6425473G>A Copied from the Exome Variant Server PLEKHG6_000071 13/12898 0/8530 13/4368
?/? c.679C>G r.(?) p.(Leu227Val) g.6425493C>G Copied from the Exome Variant Server PLEKHG6_000072 1/12916 1/8548 0/4368
?/? c.682G>C r.(?) p.(Gly228Arg) g.6425496G>C Copied from the Exome Variant Server PLEKHG6_000073 2/12916 0/8550 2/4366
?/? c.703C>T r.(?) p.(Arg235Trp) g.6425517C>T Copied from the Exome Variant Server PLEKHG6_000074 1/12908 1/8552 0/4356
?/? c.710C>T r.(?) p.(Ser237Leu) g.6425524C>T Copied from the Exome Variant Server PLEKHG6_000075 1/12926 0/8564 1/4362
?/? c.711G>A r.(=) p.(=) g.6425525G>A Copied from the Exome Variant Server PLEKHG6_000076 56/12920 51/8560 5/4360
?/? c.731T>C r.(?) p.(Ile244Thr) g.6425545T>C Copied from the Exome Variant Server PLEKHG6_000077 7/12960 7/8580 0/4380
?/? c.746G>C r.(?) p.(Gly249Ala) g.6425560G>C Copied from the Exome Variant Server PLEKHG6_000078 2/12964 1/8586 1/4378
?/? c.755C>T r.(?) p.(Thr252Met) g.6425569C>T Copied from the Exome Variant Server PLEKHG6_000079 3/12962 1/8574 2/4388
?/? c.756+7C>T r.(=) p.(=) g.6425577C>T Copied from the Exome Variant Server PLEKHG6_000080 26/12948 24/8560 2/4388
?/? c.756+42G>A r.(=) p.(=) g.6425612G>A Copied from the Exome Variant Server PLEKHG6_000081 1/12880 1/8530 0/4350
?/? c.756+46C>T r.(=) p.(=) g.6425616C>T Copied from the Exome Variant Server PLEKHG6_000082 130/12864 0/8524 130/4340
?/? c.756+50C>T r.(=) p.(=) g.6425620C>T Copied from the Exome Variant Server PLEKHG6_000084 13/12852 0/8512 13/4340
?/? c.757-29C>T r.(=) p.(=) g.6426440C>T Copied from the Exome Variant Server PLEKHG6_000083 1/13006 1/8600 0/4406
?/? c.757-8C>G r.(=) p.(=) g.6426461C>G Copied from the Exome Variant Server PLEKHG6_000085 1/13006 1/8600 0/4406
?/? c.761G>C r.(?) p.(Gly254Ala) g.6426473G>C Copied from the Exome Variant Server PLEKHG6_000086 32/13006 0/8600 32/4406
?/? c.766C>T r.(?) p.(Arg256Trp) g.6426478C>T Copied from the Exome Variant Server PLEKHG6_000087 9/13006 5/8600 4/4406
?/? c.786G>A r.(=) p.(=) g.6426498G>A Copied from the Exome Variant Server PLEKHG6_000088 2/13006 0/8600 2/4406
?/? c.790T>C r.(?) p.(Cys264Arg) g.6426502T>C Copied from the Exome Variant Server PLEKHG6_000089 1/13006 1/8600 0/4406
?/? c.817_818insA r.(?) p.(Tyr273*) g.6426529_6426530insA Copied from the Exome Variant Server PLEKHG6_000090 1/12518 1/8254 0/4264
?/? c.824G>A r.(?) p.(Arg275Gln) g.6426536G>A Copied from the Exome Variant Server PLEKHG6_000091 31/13006 0/8600 31/4406
?/? c.839C>G r.(?) p.(Thr280Ser) g.6426551C>G Copied from the Exome Variant Server PLEKHG6_000092 2/13006 2/8600 0/4406
?/? c.841A>G r.(?) p.(Asn281Asp) g.6426553A>G Copied from the Exome Variant Server PLEKHG6_000093 1/13006 1/8600 0/4406
?/? c.856G>A r.(?) p.(Ala286Thr) g.6426568G>A Copied from the Exome Variant Server PLEKHG6_000094 6/13006 0/8600 6/4406
?/? c.867+20G>A r.(=) p.(=) g.6426599G>A Copied from the Exome Variant Server PLEKHG6_000095 1/13006 1/8600 0/4406
?/? c.867+26G>A r.(=) p.(=) g.6426605G>A Copied from the Exome Variant Server PLEKHG6_000096 59/13006 0/8600 59/4406
?/? c.867+47del r.(=) p.(=) g.6426626del Copied from the Exome Variant Server PLEKHG6_000097 442/12518 6/8254 436/4264
?/? c.868-12C>T r.(=) p.(=) g.6426701C>T Copied from the Exome Variant Server PLEKHG6_000098 1/13006 1/8600 0/4406
?/? c.868-11C>A r.(=) p.(=) g.6426702C>A Copied from the Exome Variant Server PLEKHG6_000099 1/13006 0/8600 1/4406
?/? c.893G>T r.(?) p.(Gly298Val) g.6426738G>T Copied from the Exome Variant Server PLEKHG6_000100 4/13006 4/8600 0/4406
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