Unique variants in gene IQSEC2

Information The variants shown are described using the NM_001111125.1 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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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.737+10326_737+10330del r.(=) p.(=) g.53310747_53310751del Copied from the Exome Variant Server IQSEC2_000069 5/8284 5/5213 0/3071
1 c.737+10333G>T r.(=) p.(=) g.53310744C>A Copied from the Exome Variant Server IQSEC2_000068 1/8776 0/5538 1/3238
1 c.737+10385del r.(=) p.(=) g.53310692del Copied from the Exome Variant Server IQSEC2_000067 19/8456 11/5369 8/3087
1 c.737+12324G>C r.(=) p.(=) g.53308753C>G Copied from the Exome Variant Server IQSEC2_000066 1/10563 1/6728 0/3835
1 c.737+12355C>T r.(=) p.(=) g.53308722G>A Copied from the Exome Variant Server IQSEC2_000065 1/10563 0/6728 1/3835
1 c.803C>A r.(?) p.(Pro268His) g.53285178G>T Copied from the Exome Variant Server IQSEC2_000064 1/10494 1/6678 0/3816
1 c.837C>T r.(=) p.(=) g.53285144G>A Copied from the Exome Variant Server IQSEC2_000062 4/10380 1/6601 3/3779
1 c.999+35G>A r.(=) p.(=) g.53284947C>T Copied from the Exome Variant Server IQSEC2_000060 1/10563 0/6728 1/3835
1 c.999+51C>T r.(=) p.(=) g.53284931G>A Copied from the Exome Variant Server IQSEC2_000058 397/10563 338/6728 59/3835
1 c.1176C>T r.(=) p.(=) g.53283937G>A Copied from the Exome Variant Server IQSEC2_000056 1/10561 1/6727 0/3834
1 c.1212G>A r.(=) p.(=) g.53283901C>T Copied from the Exome Variant Server IQSEC2_000054 1/10563 0/6728 1/3835
1 c.1305C>T r.(=) p.(=) g.53283808G>A Copied from the Exome Variant Server IQSEC2_000052 1/10562 0/6727 1/3835
1 c.1401+3C>A r.spl? p.? g.53283709G>T Copied from the Exome Variant Server IQSEC2_000050 1/10563 1/6728 0/3835
1 c.1401+36C>T r.(=) p.(=) g.53283676G>A Copied from the Exome Variant Server IQSEC2_000048 103/10563 93/6728 10/3835
1 c.1401+39G>A r.(=) p.(=) g.53283673C>T Copied from the Exome Variant Server IQSEC2_000046 1/10563 1/6728 0/3835
1 c.1402-11C>A r.(=) p.(=) g.53280367G>T Copied from the Exome Variant Server IQSEC2_000045 2/10509 0/6701 2/3808
1 c.1402-10C>A r.(=) p.(=) g.53280366G>T Copied from the Exome Variant Server IQSEC2_000043 1/10510 1/6699 0/3811
1 c.1485G>T r.(?) p.(Gln495His) g.53280273C>A Copied from the Exome Variant Server IQSEC2_000063 1/10563 1/6728 0/3835
1 c.1521C>T r.(=) p.(=) g.53280237G>A Copied from the Exome Variant Server IQSEC2_000061 1/10563 0/6728 1/3835
1 c.1592G>C r.(?) p.(Arg531Pro) g.53280166C>G Copied from the Exome Variant Server IQSEC2_000059 3/10563 2/6728 1/3835
1 c.1620G>A r.(=) p.(=) g.53280138C>T Copied from the Exome Variant Server IQSEC2_000057 1/10557 1/6723 0/3834
1 c.1632G>A r.(=) p.(=) g.53280126C>T Copied from the Exome Variant Server IQSEC2_000055 1/10556 1/6726 0/3830
1 c.1641G>A r.(=) p.(=) g.53280117C>T Copied from the Exome Variant Server IQSEC2_000053 254/10546 6/6719 248/3827
1 c.1745G>A r.(?) p.(Arg582Gln) g.53280013C>T Copied from the Exome Variant Server IQSEC2_000051 1/10546 1/6720 0/3826
1 c.1936_1937insCC r.(?) p.(Arg646Profs*77) g.53279821_53279822insGG Copied from the Exome Variant Server IQSEC2_000049 257/9980 149/6359 108/3621
1 c.1968_1969del r.(?) p.(Ala657Profs*35) g.53279789_53279790del Copied from the Exome Variant Server IQSEC2_000047 66/9841 28/6295 38/3546
1 c.2157C>G r.(?) p.(Asp719Glu) g.53279601G>C Copied from the Exome Variant Server IQSEC2_000044 1/10563 1/6728 0/3835
1 c.2188T>C r.(?) p.(Cys730Arg) g.53279570A>G Copied from the Exome Variant Server IQSEC2_000042 1/10563 1/6728 0/3835
1 c.2232G>A r.(=) p.(=) g.53279526C>T Copied from the Exome Variant Server IQSEC2_000041 1/10563 0/6728 1/3835
1 c.2236G>A r.(?) p.(Ala746Thr) g.53279522C>T Copied from the Exome Variant Server IQSEC2_000040 1/10563 0/6728 1/3835
1 c.2297+14G>A r.(=) p.(=) g.53279447C>T Copied from the Exome Variant Server IQSEC2_000039 352/10563 5/6728 347/3835
1 c.2298-41C>T r.(=) p.(=) g.53278105G>A Copied from the Exome Variant Server IQSEC2_000038 5/10557 0/6726 5/3831
1 c.2322T>C r.(=) p.(=) g.53278040A>G Copied from the Exome Variant Server IQSEC2_000036 4/10563 3/6728 1/3835
1 c.2399G>A r.(?) p.(Arg800Gln) g.53277963C>T Copied from the Exome Variant Server IQSEC2_000034 1/10563 1/6728 0/3835
1 c.2459+21C>A r.(=) p.(=) g.53277882G>T Copied from the Exome Variant Server IQSEC2_000032 2/10563 2/6728 0/3835
1 c.2460-41A>T r.(=) p.(=) g.53277459T>A Copied from the Exome Variant Server IQSEC2_000030 2/10558 0/6725 2/3833
1 c.2508G>A r.(=) p.(=) g.53277370C>T Copied from the Exome Variant Server IQSEC2_000028 5/10563 5/6728 0/3835
1 c.2517G>A r.(=) p.(=) g.53277361C>T Copied from the Exome Variant Server IQSEC2_000026 1/10563 0/6728 1/3835
1 c.2571C>A r.(=) p.(=) g.53277307G>T Copied from the Exome Variant Server IQSEC2_000024 6/10563 6/6728 0/3835
1 c.2582+19C>T r.(=) p.(=) g.53277277G>A Copied from the Exome Variant Server IQSEC2_000022 1/10563 1/6728 0/3835
1 c.2582+29C>A r.(=) p.(=) g.53277267G>T Copied from the Exome Variant Server IQSEC2_000020 4/10563 0/6728 4/3835
1 c.2618G>A r.(?) p.(Arg873His) g.53276282C>T Copied from the Exome Variant Server IQSEC2_000018 2/10563 2/6728 0/3835
1 c.2627G>A r.(?) p.(Arg876Gln) g.53276273C>T Copied from the Exome Variant Server IQSEC2_000037 1/10563 0/6728 1/3835
1 c.2750-21C>T r.(=) p.(=) g.53272674G>A Copied from the Exome Variant Server IQSEC2_000035 2/10532 1/6704 1/3828
1 c.2775C>T r.(=) p.(=) g.53272628G>A Copied from the Exome Variant Server IQSEC2_000033 1/10539 1/6711 0/3828
1 c.2847C>T r.(=) p.(=) g.53272556G>A Copied from the Exome Variant Server IQSEC2_000031 1/10305 0/6542 1/3763
1 c.2880A>G r.(=) p.(=) g.53272523T>C Copied from the Exome Variant Server IQSEC2_000029 1/9736 0/6136 1/3600
1 c.2890-35G>T r.(=) p.(=) g.53271126C>A Copied from the Exome Variant Server IQSEC2_000027 3/10558 2/6724 1/3834
1 c.2890-25C>T r.(=) p.(=) g.53271116G>A Copied from the Exome Variant Server IQSEC2_000025 3/10562 0/6727 3/3835
1 c.2890-13C>T r.(=) p.(=) g.53271104G>A Copied from the Exome Variant Server IQSEC2_000023 1/10563 1/6728 0/3835
1 c.2890-6G>A r.(=) p.(=) g.53271097C>T Copied from the Exome Variant Server IQSEC2_000021 5/10563 0/6728 5/3835
1 c.2931G>A r.(=) p.(=) g.53271050C>T Copied from the Exome Variant Server IQSEC2_000019 1/10563 0/6728 1/3835
1 c.3015+14G>C r.(=) p.(=) g.53270952C>G Copied from the Exome Variant Server IQSEC2_000017 68/10563 0/6728 68/3835
1 c.3016-35C>T r.(=) p.(=) g.53268511G>A Copied from the Exome Variant Server IQSEC2_000016 1/10563 1/6728 0/3835
1 c.3099G>C r.(?) p.(Gln1033His) g.53268393C>G Copied from the Exome Variant Server IQSEC2_000015 1/10563 1/6728 0/3835
1 c.3115+28T>C r.(=) p.(=) g.53268349A>G Copied from the Exome Variant Server IQSEC2_000014 1/10563 1/6728 0/3835
1 c.3115+37A>G r.(=) p.(=) g.53268340T>C Copied from the Exome Variant Server IQSEC2_000013 2/10563 2/6728 0/3835
1 c.3116-4A>T r.spl? p.? g.53267492T>A Copied from the Exome Variant Server IQSEC2_000012 2/10563 0/6728 2/3835
1 c.3193A>G r.(?) p.(Ser1065Gly) g.53267411T>C Copied from the Exome Variant Server IQSEC2_000011 1/10563 1/6728 0/3835
1 c.3249G>A r.(=) p.(=) g.53267355C>T Copied from the Exome Variant Server IQSEC2_000010 1/10563 1/6728 0/3835
1 c.3277+18G>A r.(=) p.(=) g.53267309C>T Copied from the Exome Variant Server IQSEC2_000009 42/10559 1/6725 41/3834
1 c.3277+22C>G r.(=) p.(=) g.53267305G>C Copied from the Exome Variant Server IQSEC2_000008 1/10559 1/6725 0/3834
1 c.3378G>A r.(=) p.(=) g.53265577C>T Copied from the Exome Variant Server IQSEC2_000007 1/10561 0/6728 1/3833
1 c.3380A>T r.(?) p.(Asp1127Val) g.53265575T>A Copied from the Exome Variant Server IQSEC2_000006 1/10561 1/6728 0/3833
1 c.3387C>T r.(=) p.(=) g.53265568G>A Copied from the Exome Variant Server IQSEC2_000005 1/10561 0/6728 1/3833
1 c.3452-49del r.(=) p.(=) g.53265063del Copied from the Exome Variant Server IQSEC2_000004 60/5937 36/3689 24/2248
1 c.3452-40del r.(=) p.(=) g.53265054del Copied from the Exome Variant Server IQSEC2_000003 348/5750 213/3577 135/2173
1 c.3452-40dup r.(=) p.(=) g.53265054dup Copied from the Exome Variant Server IQSEC2_000002 65/5750 30/3577 35/2173
1 c.3735_3737del r.(?) p.(His1247del) g.53264131_53264133del Copied from the Exome Variant Server IQSEC2_000001 333/6648 227/4215 106/2433
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