Unique variants in gene DYRK1B

Information The variants shown are described using the NM_004714.1 transcript reference sequence.

106 entries on 2 pages. Showing entries 1 - 100.
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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.21T>C r.(=) p.(=) g.40322487A>G Copied from the Exome Variant Server DYRK1B_000106 1/9676 1/6226 0/3450
1 c.60G>T r.(=) p.(=) g.40322448C>A Copied from the Exome Variant Server DYRK1B_000105 22/9756 1/6294 21/3462
1 c.63+15G>C r.(=) p.(=) g.40322430C>G Copied from the Exome Variant Server DYRK1B_000104 1/9674 1/6210 0/3464
1 c.63+38G>T r.(=) p.(=) g.40322407C>A Copied from the Exome Variant Server DYRK1B_000103 1/9522 1/6102 0/3420
1 c.64-24C>T r.(=) p.(=) g.40321447G>A Copied from the Exome Variant Server DYRK1B_000102 1/13006 1/8600 0/4406
1 c.79C>T r.(?) p.(Arg27Trp) g.40321408G>A Copied from the Exome Variant Server DYRK1B_000101 1/13006 1/8600 0/4406
1 c.80G>A r.(?) p.(Arg27Gln) g.40321407C>T Copied from the Exome Variant Server DYRK1B_000100 2/13006 2/8600 0/4406
1 c.83T>C r.(?) p.(Leu28Pro) g.40321404A>G Copied from the Exome Variant Server DYRK1B_000099 25/13006 24/8600 1/4406
1 c.106G>C r.(?) p.(Ala36Pro) g.40321381C>G Copied from the Exome Variant Server DYRK1B_000098 1/13006 1/8600 0/4406
1 c.132G>A r.(=) p.(=) g.40321355C>T Copied from the Exome Variant Server DYRK1B_000097 1/13006 1/8600 0/4406
1 c.165C>T r.(=) p.(=) g.40321322G>A Copied from the Exome Variant Server DYRK1B_000096 2/13006 2/8600 0/4406
1 c.183+40G>T r.(=) p.(=) g.40321264C>A Copied from the Exome Variant Server DYRK1B_000095 1/13006 1/8600 0/4406
1 c.194C>T r.(?) p.(Ala65Val) g.40321193G>A Copied from the Exome Variant Server DYRK1B_000094 2/13006 1/8600 1/4406
1 c.202A>C r.(?) p.(Lys68Gln) g.40321185T>G Copied from the Exome Variant Server DYRK1B_000093 1/13006 1/8600 0/4406
1 c.209G>A r.(?) p.(Arg70Gln) g.40321178C>T Copied from the Exome Variant Server DYRK1B_000092 3/13006 2/8600 1/4406
1 c.210G>A r.(=) p.(=) g.40321177C>T Copied from the Exome Variant Server DYRK1B_000091 2/13006 2/8600 0/4406
1 c.230A>G r.(?) p.(Gln77Arg) g.40321157T>C Copied from the Exome Variant Server DYRK1B_000090 1/13006 0/8600 1/4406
1 c.263T>C r.(?) p.(Leu88Pro) g.40321124A>G Copied from the Exome Variant Server DYRK1B_000089 1/13006 1/8600 0/4406
1 c.282C>T r.(=) p.(=) g.40321105G>A Copied from the Exome Variant Server DYRK1B_000088 1/13006 0/8600 1/4406
1 c.283G>A r.(?) p.(Asp95Asn) g.40321104C>T Copied from the Exome Variant Server DYRK1B_000087 1/13006 1/8600 0/4406
1 c.291T>C r.(=) p.(=) g.40321096A>G Copied from the Exome Variant Server DYRK1B_000086 3/13006 2/8600 1/4406
1 c.300C>T r.(=) p.(=) g.40321087G>A Copied from the Exome Variant Server DYRK1B_000085 1/13006 0/8600 1/4406
1 c.304C>T r.(?) p.(Arg102Cys) g.40321083G>A Copied from the Exome Variant Server DYRK1B_000084 1/13006 1/8600 0/4406
1 c.305G>A r.(?) p.(Arg102His) g.40321082C>T Copied from the Exome Variant Server DYRK1B_000083 2/13006 2/8600 0/4406
1 c.313G>A r.(?) p.(Glu105Lys) g.40321074C>T Copied from the Exome Variant Server DYRK1B_000082 1/13006 1/8600 0/4406
1 c.373-45G>C r.(=) p.(=) g.40320712C>G Copied from the Exome Variant Server DYRK1B_000081 1/13006 1/8600 0/4406
1 c.373-10G>T r.(=) p.(=) g.40320677C>A Copied from the Exome Variant Server DYRK1B_000080 1/13006 0/8600 1/4406
1 c.373-7C>T r.(=) p.(=) g.40320674G>A Copied from the Exome Variant Server DYRK1B_000079 3/13006 2/8600 1/4406
1 c.520+25G>A r.(=) p.(=) g.40320495C>T Copied from the Exome Variant Server DYRK1B_000078 1/13006 1/8600 0/4406
1 c.520+36G>A r.(=) p.(=) g.40320484C>T Copied from the Exome Variant Server DYRK1B_000077 2/13006 0/8600 2/4406
1 c.521-37G>A r.(=) p.(=) g.40319260C>T Copied from the Exome Variant Server DYRK1B_000076 77/13006 4/8600 73/4406
1 c.521-9C>T r.(=) p.(=) g.40319232G>A Copied from the Exome Variant Server DYRK1B_000075 125/13006 4/8600 121/4406
1 c.521-4G>A r.spl? p.? g.40319227C>T Copied from the Exome Variant Server DYRK1B_000074 687/13006 631/8600 56/4406
1 c.562C>T r.(=) p.(=) g.40319182G>A Copied from the Exome Variant Server DYRK1B_000073 1/13006 1/8600 0/4406
1 c.591G>A r.(=) p.(=) g.40319153C>T Copied from the Exome Variant Server DYRK1B_000072 1/13006 0/8600 1/4406
1 c.594C>T r.(=) p.(=) g.40319150G>A Copied from the Exome Variant Server DYRK1B_000071 1/13006 1/8600 0/4406
1 c.619C>T r.(?) p.(Arg207Cys) g.40319125G>A Copied from the Exome Variant Server DYRK1B_000070 3/13006 0/8600 3/4406
1 c.621C>T r.(=) p.(=) g.40319123G>A Copied from the Exome Variant Server DYRK1B_000069 1/13006 1/8600 0/4406
1 c.656A>G r.(?) p.(Gln219Arg) g.40319088T>C Copied from the Exome Variant Server DYRK1B_000068 1/13006 1/8600 0/4406
1 c.668C>T r.(?) p.(Thr223Met) g.40319076G>A Copied from the Exome Variant Server DYRK1B_000067 3/13006 2/8600 1/4406
1 c.690G>A r.(=) p.(=) g.40319054C>T Copied from the Exome Variant Server DYRK1B_000066 1/13006 1/8600 0/4406
1 c.780C>T r.(=) p.(=) g.40318964G>A Copied from the Exome Variant Server DYRK1B_000065 1/13006 0/8600 1/4406
1 c.781G>A r.(?) p.(Gly261Ser) g.40318963C>T Copied from the Exome Variant Server DYRK1B_000064 1/13006 1/8600 0/4406
1 c.807+9C>T r.(=) p.(=) g.40318928G>A Copied from the Exome Variant Server DYRK1B_000063 4/13006 0/8600 4/4406
1 c.808-24C>G r.(=) p.(=) g.40318320G>C Copied from the Exome Variant Server DYRK1B_000062 3/13006 3/8600 0/4406
1 c.870C>T r.(=) p.(=) g.40318234G>A Copied from the Exome Variant Server DYRK1B_000061 5/13006 0/8600 5/4406
1 c.871G>A r.(?) p.(Asp291Asn) g.40318233C>T Copied from the Exome Variant Server DYRK1B_000060 1/13006 0/8600 1/4406
1 c.875del r.(?) p.(Leu292Argfs*31) g.40318229del Copied from the Exome Variant Server DYRK1B_000059 1/12518 1/8254 0/4264
1 c.954+12G>A r.(=) p.(=) g.40318138C>T Copied from the Exome Variant Server DYRK1B_000058 30/13002 0/8596 30/4406
1 c.954+16G>C r.(=) p.(=) g.40318134C>G Copied from the Exome Variant Server DYRK1B_000057 4/13002 4/8596 0/4406
1 c.954+18G>A r.(=) p.(=) g.40318132C>T Copied from the Exome Variant Server DYRK1B_000056 282/13002 255/8596 27/4406
1 c.955-22C>T r.(=) p.(=) g.40318087G>A Copied from the Exome Variant Server DYRK1B_000055 5/13006 5/8600 0/4406
1 c.955-21T>C r.(=) p.(=) g.40318086A>G Copied from the Exome Variant Server DYRK1B_000054 5949/13006 3101/8600 2848/4406
1 c.955-15C>T r.(=) p.(=) g.40318080G>A Copied from the Exome Variant Server DYRK1B_000053 2/13006 2/8600 0/4406
1 c.955-3C>T r.spl? p.? g.40318068G>A Copied from the Exome Variant Server DYRK1B_000052 1/13006 0/8600 1/4406
1 c.1002C>T r.(=) p.(=) g.40318018G>A Copied from the Exome Variant Server DYRK1B_000051 5/13006 4/8600 1/4406
1 c.1007T>C r.(?) p.(Met336Thr) g.40318013A>G Copied from the Exome Variant Server DYRK1B_000050 1/13006 0/8600 1/4406
1 c.1030C>T r.(?) p.(Arg344Cys) g.40317990G>A Copied from the Exome Variant Server DYRK1B_000049 2/13006 0/8600 2/4406
1 c.1031G>A r.(?) p.(Arg344His) g.40317989C>T Copied from the Exome Variant Server DYRK1B_000048 1/13006 1/8600 0/4406
1 c.1055G>C r.(?) p.(Gly352Ala) g.40317965C>G Copied from the Exome Variant Server DYRK1B_000047 3/13006 2/8600 1/4406
1 c.1086A>T r.(?) p.(Glu362Asp) g.40317934T>A Copied from the Exome Variant Server DYRK1B_000046 2/13006 2/8600 0/4406
1 c.1095+32C>T r.(=) p.(=) g.40317893G>A Copied from the Exome Variant Server DYRK1B_000045 1/13000 1/8594 0/4406
1 c.1095+35C>T r.(=) p.(=) g.40317890G>A Copied from the Exome Variant Server DYRK1B_000044 1/12994 1/8592 0/4402
1 c.1095+36G>A r.(=) p.(=) g.40317889C>T Copied from the Exome Variant Server DYRK1B_000043 3/12992 2/8592 1/4400
1 c.1201del r.(?) p.(Tyr401Thrfs*102) g.40317522del Copied from the Exome Variant Server DYRK1B_000042 25/9416 10/6292 15/3124
1 c.1205_1206insGCC r.(?) p.(Leu402_Arg403insPro) g.40317517_40317518insGGC Copied from the Exome Variant Server DYRK1B_000041 28/9654 13/6442 15/3212
1 c.1252G>A r.(?) p.(Ala418Thr) g.40317471C>T Copied from the Exome Variant Server DYRK1B_000040 1/11382 1/7578 0/3804
1 c.1284C>T r.(=) p.(=) g.40317439G>A Copied from the Exome Variant Server DYRK1B_000039 1/11942 1/7884 0/4058
1 c.1287C>T r.(=) p.(=) g.40317436G>A Copied from the Exome Variant Server DYRK1B_000038 6/12008 6/7920 0/4088
1 c.1302G>A r.(=) p.(=) g.40317421C>T Copied from the Exome Variant Server DYRK1B_000037 13/12266 0/8072 13/4194
1 c.1315A>G r.(?) p.(Thr439Ala) g.40317408T>C Copied from the Exome Variant Server DYRK1B_000036 1/12626 0/8328 1/4298
1 c.1320C>T r.(=) p.(=) g.40317403G>A Copied from the Exome Variant Server DYRK1B_000035 1/12640 1/8336 0/4304
1 c.1324G>C r.(?) p.(Gly442Arg) g.40317399C>G Copied from the Exome Variant Server DYRK1B_000034 1/12668 1/8354 0/4314
1 c.1336A>G r.(?) p.(Ser446Gly) g.40317387T>C Copied from the Exome Variant Server DYRK1B_000033 1/12752 1/8420 0/4332
1 c.1359G>A r.(=) p.(=) g.40317364C>T Copied from the Exome Variant Server DYRK1B_000032 1/12620 1/8346 0/4274
1 c.1411+32C>T r.(=) p.(=) g.40317280G>A Copied from the Exome Variant Server DYRK1B_000031 2/11664 1/7748 1/3916
1 c.1411+41del r.(=) p.(=) g.40317271del Copied from the Exome Variant Server DYRK1B_000030 15/10778 10/7118 5/3660
1 c.1412-23C>T r.(=) p.(=) g.40316949G>A Copied from the Exome Variant Server DYRK1B_000029 2/12998 2/8594 0/4404
1 c.1442G>A r.(?) p.(Arg481Gln) g.40316896C>T Copied from the Exome Variant Server DYRK1B_000028 1/13006 1/8600 0/4406
1 c.1451G>A r.(?) p.(Arg484His) g.40316887C>T Copied from the Exome Variant Server DYRK1B_000027 1/13006 0/8600 1/4406
1 c.1467T>C r.(=) p.(=) g.40316871A>G Copied from the Exome Variant Server DYRK1B_000026 1/13006 1/8600 0/4406
1 c.1474G>A r.(?) p.(Gly492Ser) g.40316864C>T Copied from the Exome Variant Server DYRK1B_000025 1/13006 1/8600 0/4406
1 c.1484C>T r.(?) p.(Pro495Leu) g.40316854G>A Copied from the Exome Variant Server DYRK1B_000024 1/13006 1/8600 0/4406
1 c.1492A>G r.(?) p.(Thr498Ala) g.40316846T>C Copied from the Exome Variant Server DYRK1B_000023 1/13006 1/8600 0/4406
1 c.1503G>A r.(=) p.(=) g.40316835C>T Copied from the Exome Variant Server DYRK1B_000022 1/13006 1/8600 0/4406
1 c.1518+26G>A r.(=) p.(=) g.40316794C>T Copied from the Exome Variant Server DYRK1B_000021 1/13006 0/8600 1/4406
1 c.1518+29G>C r.(=) p.(=) g.40316791C>G Copied from the Exome Variant Server DYRK1B_000020 1/13006 1/8600 0/4406
1 c.1519-28A>G r.(=) p.(=) g.40316754T>C Copied from the Exome Variant Server DYRK1B_000019 64/13004 12/8600 52/4404
1 c.1519-26C>T r.(=) p.(=) g.40316752G>A Copied from the Exome Variant Server DYRK1B_000018 1/13004 0/8600 1/4404
1 c.1521C>T r.(=) p.(=) g.40316724G>A Copied from the Exome Variant Server DYRK1B_000017 4/13002 3/8596 1/4406
1 c.1526C>T r.(?) p.(Pro509Leu) g.40316719G>A Copied from the Exome Variant Server DYRK1B_000016 1/12992 0/8588 1/4404
1 c.1586C>A r.(?) p.(Pro529His) g.40316659G>T Copied from the Exome Variant Server DYRK1B_000015 1/12804 1/8488 0/4316
1 c.1598C>T r.(?) p.(Ser533Leu) g.40316647G>A Copied from the Exome Variant Server DYRK1B_000014 1/12770 1/8470 0/4300
1 c.1613C>G r.(?) p.(Thr538Ser) g.40316632G>C Copied from the Exome Variant Server DYRK1B_000013 2/12750 2/8474 0/4276
1 c.1640G>A r.(?) p.(Arg547Gln) g.40316605C>T Copied from the Exome Variant Server DYRK1B_000012 1/12810 1/8490 0/4320
1 c.1652G>A r.(?) p.(Arg551His) g.40316593C>T Copied from the Exome Variant Server DYRK1B_000011 1/12838 1/8508 0/4330
1 c.1683G>A r.(=) p.(=) g.40316562C>T Copied from the Exome Variant Server DYRK1B_000010 1/12692 0/8414 1/4278
1 c.1732C>T r.(?) p.(Pro578Ser) g.40316513G>A Copied from the Exome Variant Server DYRK1B_000009 11/12764 11/8462 0/4302
1 c.1733C>T r.(?) p.(Pro578Leu) g.40316512G>A Copied from the Exome Variant Server DYRK1B_000008 3/12736 0/8442 3/4294
1 c.1777C>T r.(?) p.(Arg593Trp) g.40316468G>A Copied from the Exome Variant Server DYRK1B_000007 1/12888 1/8528 0/4360
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