Unique variants in gene SEPT14

Information The variants shown are described using the NM_207366.2 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.4G>A r.(?) p.(Ala2Thr) g.55929686C>T Copied from the Exome Variant Server SEPT14_000075 134/11738 23/8126 111/3612
1 c.10A>G r.(?) p.(Arg4Gly) g.55929680T>C Copied from the Exome Variant Server SEPT14_000072 40/11744 1/8130 39/3614
1 c.25C>G r.(?) p.(Pro9Ala) g.55929665G>C Copied from the Exome Variant Server SEPT14_000077 3/11758 3/8136 0/3622
1 c.38C>T r.(?) p.(Pro13Leu) g.55929652G>A Copied from the Exome Variant Server SEPT14_000076 1/11758 0/8138 1/3620
1 c.51T>C r.(=) p.(=) g.55929639A>G Copied from the Exome Variant Server SEPT14_000074 1/11762 1/8138 0/3624
1 c.54+48G>C r.(=) p.(=) g.55929588C>G Copied from the Exome Variant Server SEPT14_000073 2/11712 1/8090 1/3622
1 c.55-39T>C r.(=) p.(=) g.55914369A>G Copied from the Exome Variant Server SEPT14_000071 26/11644 2/8086 24/3558
1 c.55-38A>C r.(=) p.(=) g.55914368T>G Copied from the Exome Variant Server SEPT14_000070 1/11650 1/8090 0/3560
1 c.55-22C>T r.(=) p.(=) g.55914352G>A Copied from the Exome Variant Server SEPT14_000069 1/11682 1/8106 0/3576
1 c.65A>C r.(?) p.(Asn22Thr) g.55914320T>G Copied from the Exome Variant Server SEPT14_000068 1/11724 0/8130 1/3594
1 c.79T>C r.(=) p.(=) g.55914306A>G Copied from the Exome Variant Server SEPT14_000067 1/11766 1/8148 0/3618
1 c.86C>T r.(?) p.(Thr29Met) g.55914299G>A Copied from the Exome Variant Server SEPT14_000066 4/11786 0/8158 4/3628
1 c.87G>T r.(=) p.(=) g.55914298C>A Copied from the Exome Variant Server SEPT14_000065 4/11794 3/8164 1/3630
1 c.129G>A r.(=) p.(=) g.55914256C>T Copied from the Exome Variant Server SEPT14_000064 2/11888 0/8202 2/3686
1 c.134G>C r.(?) p.(Arg45Thr) g.55914251C>G Copied from the Exome Variant Server SEPT14_000063 42/11888 40/8200 2/3688
1 c.139A>G r.(?) p.(Ile47Val) g.55914246T>C Copied from the Exome Variant Server SEPT14_000062 1/11896 1/8208 0/3688
1 c.143G>A r.(?) p.(Arg48Gln) g.55914242C>T Copied from the Exome Variant Server SEPT14_000061 3/11902 0/8210 3/3692
1 c.175+13C>A r.(=) p.(=) g.55914197G>T Copied from the Exome Variant Server SEPT14_000060 16/11930 1/8218 15/3712
1 c.175+21T>C r.(=) p.(=) g.55914189A>G Copied from the Exome Variant Server SEPT14_000059 1/11918 1/8212 0/3706
1 c.176-44A>C r.(=) p.(=) g.55912455T>G Copied from the Exome Variant Server SEPT14_000058 82/11792 75/8152 7/3640
1 c.176-17C>T r.(=) p.(=) g.55912428G>A Copied from the Exome Variant Server SEPT14_000057 1/11828 1/8166 0/3662
1 c.180G>A r.(=) p.(=) g.55912407C>T Copied from the Exome Variant Server SEPT14_000056 29/11836 2/8174 27/3662
1 c.224C>G r.(?) p.(Thr75Ser) g.55912363G>C Copied from the Exome Variant Server SEPT14_000055 4/11858 0/8150 4/3708
1 c.242A>G r.(?) p.(Lys81Arg) g.55912345T>C Copied from the Exome Variant Server SEPT14_000054 30/11864 27/8158 3/3706
1 c.307G>A r.(?) p.(Val103Ile) g.55912280C>T Copied from the Exome Variant Server SEPT14_000053 1/11888 1/8208 0/3680
1 c.321G>C r.(?) p.(Leu107Phe) g.55912266C>G Copied from the Exome Variant Server SEPT14_000052 1/11882 1/8206 0/3676
1 c.363_366del r.(?) p.(Glu122Profs*6) g.55912221_55912224del Copied from the Exome Variant Server SEPT14_000051 10/11326 7/7822 3/3504
1 c.371+31G>A r.(=) p.(=) g.55912185C>T Copied from the Exome Variant Server SEPT14_000050 1979/11704 803/8132 1176/3572
1 c.372-39T>C r.(=) p.(=) g.55910860A>G Copied from the Exome Variant Server SEPT14_000049 103/11786 96/8150 7/3636
1 c.418C>A r.(?) p.(Leu140Ile) g.55910775G>T Copied from the Exome Variant Server SEPT14_000048 34/11972 0/8222 34/3750
1 c.442C>T r.(?) p.(Arg148Cys) g.55910751G>A Copied from the Exome Variant Server SEPT14_000047 1/12018 0/8244 1/3774
1 c.443G>A r.(?) p.(Arg148His) g.55910750C>T Copied from the Exome Variant Server SEPT14_000046 2/12026 0/8250 2/3776
1 c.470G>A r.(?) p.(Arg157His) g.55910723C>T Copied from the Exome Variant Server SEPT14_000045 2/12066 2/8262 0/3804
1 c.471C>T r.(=) p.(=) g.55910722G>A Copied from the Exome Variant Server SEPT14_000044 32/12064 31/8260 1/3804
1 c.501T>C r.(=) p.(=) g.55910692A>G Copied from the Exome Variant Server SEPT14_000043 1/12044 1/8252 0/3792
1 c.502A>G r.(?) p.(Thr168Ala) g.55910691T>C Copied from the Exome Variant Server SEPT14_000042 1/12036 1/8248 0/3788
1 c.536C>T r.(?) p.(Thr179Ile) g.55910657G>A Copied from the Exome Variant Server SEPT14_000041 1/11948 1/8204 0/3744
1 c.539T>A r.(?) p.(Met180Lys) g.55910654A>T Copied from the Exome Variant Server SEPT14_000040 1/11948 1/8198 0/3750
1 c.558+3A>G r.spl? p.? g.55910632T>C Copied from the Exome Variant Server SEPT14_000039 1/11854 1/8154 0/3700
1 c.558+33del r.(=) p.(=) g.55910602del Copied from the Exome Variant Server SEPT14_000038 502/10630 333/7338 169/3292
1 c.558+33dup r.(=) p.(=) g.55910602dup Copied from the Exome Variant Server SEPT14_000037 292/10630 205/7338 87/3292
1 c.558+33_558+34del r.(=) p.(=) g.55910601_55910602del Copied from the Exome Variant Server SEPT14_000036 173/10630 61/7338 112/3292
1 c.559-15C>G r.(=) p.(=) g.55902294G>C Copied from the Exome Variant Server SEPT14_000034 1/13004 1/8600 0/4404
1 c.599C>T r.(?) p.(Ser200Phe) g.55902239G>A Copied from the Exome Variant Server SEPT14_000032 45/13006 45/8600 0/4406
1 c.608A>G r.(?) p.(Asp203Gly) g.55902230T>C Copied from the Exome Variant Server SEPT14_000030 216/13006 194/8600 22/4406
1 c.611T>C r.(?) p.(Leu204Ser) g.55902227A>G Copied from the Exome Variant Server SEPT14_000028 1/13006 0/8600 1/4406
1 c.656G>A r.(?) p.(Gly219Asp) g.55902182C>T Copied from the Exome Variant Server SEPT14_000026 1/13006 1/8600 0/4406
1 c.662A>G r.(?) p.(Gln221Arg) g.55902176T>C Copied from the Exome Variant Server SEPT14_000024 1/13006 1/8600 0/4406
1 c.702A>G r.(=) p.(=) g.55902136T>C Copied from the Exome Variant Server SEPT14_000022 1/13006 0/8600 1/4406
1 c.720T>C r.(=) p.(=) g.55902118A>G Copied from the Exome Variant Server SEPT14_000020 2/13006 0/8600 2/4406
1 c.720+26_720+27del r.(=) p.(=) g.55902091_55902092del Copied from the Exome Variant Server SEPT14_000018 20/12518 0/8254 20/4264
1 c.721-24_721-20del r.(=) p.(=) g.55886936_55886940del Copied from the Exome Variant Server SEPT14_000016 152/12448 2/8210 150/4238
1 c.721-2A>G r.spl? p.? g.55886918T>C Copied from the Exome Variant Server SEPT14_000035 1/12994 0/8594 1/4400
1 c.723G>A r.(=) p.(=) g.55886914C>T Copied from the Exome Variant Server SEPT14_000033 1/13000 1/8596 0/4404
1 c.796T>C r.(?) p.(Tyr266His) g.55886841A>G Copied from the Exome Variant Server SEPT14_000031 2/13004 2/8598 0/4406
1 c.817+17G>T r.(=) p.(=) g.55886803C>A Copied from the Exome Variant Server SEPT14_000029 4/12994 4/8596 0/4398
1 c.817+26G>T r.(=) p.(=) g.55886794C>A Copied from the Exome Variant Server SEPT14_000027 615/12976 187/8580 428/4396
1 c.818-36C>T r.(=) p.(=) g.55874987G>A Copied from the Exome Variant Server SEPT14_000025 1/12988 0/8596 1/4392
1 c.818-5A>G r.spl? p.? g.55874956T>C Copied from the Exome Variant Server SEPT14_000023 1/13000 1/8598 0/4402
1 c.826G>C r.(?) p.(Glu276Gln) g.55874943C>G Copied from the Exome Variant Server SEPT14_000021 1/13004 1/8600 0/4404
1 c.844G>A r.(?) p.(Val282Ile) g.55874925C>T Copied from the Exome Variant Server SEPT14_000019 1/13006 0/8600 1/4406
1 c.847A>G r.(?) p.(Lys283Glu) g.55874922T>C Copied from the Exome Variant Server SEPT14_000017 4/13006 3/8600 1/4406
1 c.853C>T r.(?) p.(Arg285*) g.55874916G>A Copied from the Exome Variant Server SEPT14_000015 2/13004 1/8600 1/4404
1 c.939G>T r.(=) p.(=) g.55874830C>A Copied from the Exome Variant Server SEPT14_000014 1/13006 1/8600 0/4406
1 c.940C>T r.(?) p.(Gln314*) g.55874829G>A Copied from the Exome Variant Server SEPT14_000013 1/13006 1/8600 0/4406
1 c.958G>A r.(?) p.(Asp320Asn) g.55874811C>T Copied from the Exome Variant Server SEPT14_000012 6/13006 0/8600 6/4406
1 c.986+21C>T r.(=) p.(=) g.55874762G>A Copied from the Exome Variant Server SEPT14_000011 1/13006 0/8600 1/4406
1 c.991C>A r.(?) p.(Gln331Lys) g.55873079G>T Copied from the Exome Variant Server SEPT14_000010 8/12986 8/8590 0/4396
1 c.1025A>G r.(?) p.(Tyr342Cys) g.55873045T>C Copied from the Exome Variant Server SEPT14_000009 5/12998 0/8594 5/4404
1 c.1076G>A r.(?) p.(Arg359Gln) g.55872994C>T Copied from the Exome Variant Server SEPT14_000008 1/12998 1/8594 0/4404
1 c.1119+8C>T r.(=) p.(=) g.55872943G>A Copied from the Exome Variant Server SEPT14_000007 10/13004 0/8600 10/4404
1 c.1267G>A r.(?) p.(Asp423Asn) g.55863638C>T Copied from the Exome Variant Server SEPT14_000006 1/7396 0/4650 1/2746
1 c.*7C>A r.(=) p.(=) g.55863599G>T Copied from the Exome Variant Server SEPT14_000005 1/7372 0/4634 1/2738
1 c.*15A>G r.(=) p.(=) g.55863591T>C Copied from the Exome Variant Server SEPT14_000004 4/7354 0/4618 4/2736
1 c.*39A>G r.(=) p.(=) g.55863567T>C Copied from the Exome Variant Server SEPT14_000003 1/7356 0/4628 1/2728
1 c.*41C>T r.(=) p.(=) g.55863565G>A Copied from the Exome Variant Server SEPT14_000002 4/7350 3/4622 1/2728
1 c.*42G>A r.(=) p.(=) g.55863564C>T Copied from the Exome Variant Server SEPT14_000001 2/7354 1/4624 1/2730
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