All transcript variants in gene MARK2

Information The variants shown are described using the NM_017490.3 transcript reference sequence.

115 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-77C>T r.(=) p.(=) g.63656405C>T Copied from the Exome Variant Server MARK2_000002 33/5726 0/3978 33/1748
?/? c.-73G>C r.(=) p.(=) g.63656409G>C Copied from the Exome Variant Server MARK2_000004 1/5726 0/3978 1/1748
?/? c.-46+34T>G r.(=) p.(=) g.63656470T>G Copied from the Exome Variant Server MARK2_000006 1/5726 1/3978 0/1748
?/? c.-46+1261_-46+1262insTTTTCTCCTT r.(=) p.(=) g.63657697_63657698insTTTTCTCCTT Copied from the Exome Variant Server MARK2_000010 146/6644 100/4444 46/2200
?/? c.-46+1261_-46+1262insTTTTTT r.(=) p.(=) g.63657697_63657698insTTTTTT Copied from the Exome Variant Server MARK2_000012 174/6644 109/4444 65/2200
?/? c.-46+1261_-46+1262insTTTTTTTCTT r.(=) p.(=) g.63657697_63657698insTTTTTTTCTT Copied from the Exome Variant Server MARK2_000008 2430/6644 1678/4444 752/2200
?/? c.-46+1352G>A r.(=) p.(=) g.63657788G>A Copied from the Exome Variant Server MARK2_000014 1/5726 0/3978 1/1748
?/? c.-45-3C>T r.(=) p.(=) g.63662628C>T Copied from the Exome Variant Server MARK2_000016 2/12994 2/8594 0/4400
?/? c.49A>G r.(?) p.(Ile17Val) g.63662724A>G Copied from the Exome Variant Server MARK2_000018 1/12998 0/8596 1/4402
?/? c.50T>C r.(?) p.(Ile17Thr) g.63662725T>C Copied from the Exome Variant Server MARK2_000001 1/12998 1/8596 0/4402
?/? c.60C>T r.(=) p.(=) g.63662735C>T Copied from the Exome Variant Server MARK2_000003 6/12998 3/8596 3/4402
?/? c.120C>T r.(=) p.(=) g.63662795C>T Copied from the Exome Variant Server MARK2_000005 1/12998 1/8596 0/4402
?/? c.135+14C>T r.(=) p.(=) g.63662824C>T Copied from the Exome Variant Server MARK2_000007 1/12998 1/8596 0/4402
?/? c.135+29C>T r.(=) p.(=) g.63662839C>T Copied from the Exome Variant Server MARK2_000009 1/12998 1/8596 0/4402
?/? c.135+39del r.(=) p.(=) g.63662849del Copied from the Exome Variant Server MARK2_000011 24/12518 0/8254 24/4264
?/? c.136-27T>G r.(=) p.(=) g.63663025T>G Copied from the Exome Variant Server MARK2_000013 8/12998 0/8596 8/4402
?/? c.190-59T>C r.(=) p.(=) g.63665645T>C Copied from the Exome Variant Server MARK2_000015 1/4566 1/3182 0/1384
?/? c.190-24G>T r.(=) p.(=) g.63665680G>T Copied from the Exome Variant Server MARK2_000017 1/12996 0/8594 1/4402
?/? c.238+8C>G r.(=) p.(=) g.63665760C>G Copied from the Exome Variant Server MARK2_000019 6/12996 4/8594 2/4402
?/? c.238+11G>A r.(=) p.(=) g.63665763G>A Copied from the Exome Variant Server MARK2_000020 1/12996 1/8594 0/4402
?/? c.238+50C>T r.(=) p.(=) g.63665802C>T Copied from the Exome Variant Server MARK2_000022 4/12996 0/8594 4/4402
?/? c.238+67T>G r.(=) p.(=) g.63665819T>G Copied from the Exome Variant Server MARK2_000024 18/4566 18/3182 0/1384
?/? c.238+75G>A r.(=) p.(=) g.63665827G>A Copied from the Exome Variant Server MARK2_000026 7/4566 0/3182 7/1384
?/? c.239-43C>T r.(=) p.(=) g.63666037C>T Copied from the Exome Variant Server MARK2_000028 1/12996 1/8594 0/4402
?/? c.239-4G>T r.spl? p.? g.63666076G>T Copied from the Exome Variant Server MARK2_000030 1/12996 1/8594 0/4402
?/? c.258T>C r.(=) p.(=) g.63666099T>C Copied from the Exome Variant Server MARK2_000032 1/12996 1/8594 0/4402
?/? c.304+1_304+8del r.spl? p.? g.63666146_63666153del Copied from the Exome Variant Server MARK2_000035 24/12518 18/8254 6/4264
?/? c.304+2_304+4del r.spl? p.? g.63666147_63666149del Copied from the Exome Variant Server MARK2_000037 23/12518 9/8254 14/4264
?/? c.304+7G>A r.(=) p.(=) g.63666152G>A Copied from the Exome Variant Server MARK2_000038 1/12996 1/8594 0/4402
?/? c.304+15G>A r.(=) p.(=) g.63666160G>A Copied from the Exome Variant Server MARK2_000040 1/12996 1/8594 0/4402
?/? c.305-33C>T r.(=) p.(=) g.63666202C>T Copied from the Exome Variant Server MARK2_000042 1/12996 0/8594 1/4402
?/? c.375+41G>A r.(=) p.(=) g.63666346G>A Copied from the Exome Variant Server MARK2_000044 1/12996 1/8594 0/4402
?/? c.375+51_375+52del r.(=) p.(=) g.63666356_63666357del Copied from the Exome Variant Server MARK2_000047 1/12518 0/8254 1/4264
?/? c.375+56C>T r.(=) p.(=) g.63666361C>T Copied from the Exome Variant Server MARK2_000048 2/4566 2/3182 0/1384
?/? c.376-32C>T r.(=) p.(=) g.63666492C>T Copied from the Exome Variant Server MARK2_000021 1/12996 1/8594 0/4402
?/? c.433-8C>T r.(=) p.(=) g.63667338C>T Copied from the Exome Variant Server MARK2_000023 1/12996 1/8594 0/4402
?/? c.503C>T r.(?) p.(Thr168Ile) g.63667416C>T Copied from the Exome Variant Server MARK2_000025 1/12996 1/8594 0/4402
?/? c.588C>T r.(=) p.(=) g.63667501C>T Copied from the Exome Variant Server MARK2_000027 1/12996 0/8594 1/4402
?/? c.642C>A r.(=) p.(=) g.63667555C>A Copied from the Exome Variant Server MARK2_000029 4/12996 0/8594 4/4402
?/? c.643C>T r.(=) p.(=) g.63667556C>T Copied from the Exome Variant Server MARK2_000031 5/12996 0/8594 5/4402
?/? c.669+9A>C r.(=) p.(=) g.63667591A>C Copied from the Exome Variant Server MARK2_000033 1/12996 1/8594 0/4402
?/? c.670-27A>G r.(=) p.(=) g.63668004A>G Copied from the Exome Variant Server MARK2_000034 1/12996 1/8594 0/4402
?/? c.670-9C>T r.(=) p.(=) g.63668022C>T Copied from the Exome Variant Server MARK2_000036 2/12996 2/8594 0/4402
?/? c.790-37T>C r.(=) p.(=) g.63668215T>C Copied from the Exome Variant Server MARK2_000039 251/12996 3/8594 248/4402
?/? c.806G>A r.(?) p.(Arg269Gln) g.63668268G>A Copied from the Exome Variant Server MARK2_000041 1/12996 0/8594 1/4402
?/? c.876C>T r.(=) p.(=) g.63668338C>T Copied from the Exome Variant Server MARK2_000043 1/12996 1/8594 0/4402
?/? c.880C>T r.(?) p.(Arg294Trp) g.63668342C>T Copied from the Exome Variant Server MARK2_000045 1/12996 1/8594 0/4402
?/? c.884G>A r.(?) p.(Arg295Gln) g.63668346G>A Copied from the Exome Variant Server MARK2_000046 1/12996 1/8594 0/4402
?/? c.889+29G>A r.(=) p.(=) g.63668380G>A Copied from the Exome Variant Server MARK2_000049 1/12996 1/8594 0/4402
?/? c.898G>A r.(?) p.(Val300Met) g.63668437G>A Copied from the Exome Variant Server MARK2_000050 1/12996 0/8594 1/4402
?/? c.999C>T r.(=) p.(=) g.63668538C>T Copied from the Exome Variant Server MARK2_000051 2/12996 0/8594 2/4402
?/? c.1002+14G>A r.(=) p.(=) g.63668555G>A Copied from the Exome Variant Server MARK2_000052 53/12996 0/8594 53/4402
?/? c.1002+16C>T r.(=) p.(=) g.63668557C>T Copied from the Exome Variant Server MARK2_000053 12832/12996 8593/8594 4239/4402
?/? c.1002+18C>T r.(=) p.(=) g.63668559C>T Copied from the Exome Variant Server MARK2_000054 1/12996 0/8594 1/4402
?/? c.1003-11G>T r.(=) p.(=) g.63669659G>T Copied from the Exome Variant Server MARK2_000055 20/12996 0/8594 20/4402
?/? c.1047T>A r.(?) p.(Asp349Glu) g.63669714T>A Copied from the Exome Variant Server MARK2_000056 1/12996 0/8594 1/4402
?/? c.1048C>G r.(?) p.(Leu350Val) g.63669715C>G Copied from the Exome Variant Server MARK2_000057 1/12996 1/8594 0/4402
?/? c.1052C>A r.(?) p.(Thr351Asn) g.63669719C>A Copied from the Exome Variant Server MARK2_000058 2/12996 2/8594 0/4402
?/? c.1054A>C r.(?) p.(Asn352His) g.63669721A>C Copied from the Exome Variant Server MARK2_000059 1/12996 1/8594 0/4402
?/? c.1067C>T r.(?) p.(Pro356Leu) g.63669734C>T Copied from the Exome Variant Server MARK2_000060 1/12996 1/8594 0/4402
?/? c.1099T>C r.(?) p.(Ser367Pro) g.63669766T>C Copied from the Exome Variant Server MARK2_000061 1/12996 1/8594 0/4402
?/? c.1136-40C>T r.(=) p.(=) g.63670036C>T Copied from the Exome Variant Server MARK2_000062 29/12996 0/8594 29/4402
?/? c.1136-4G>A r.spl? p.? g.63670072G>A Copied from the Exome Variant Server MARK2_000063 1/12996 1/8594 0/4402
?/? c.1205G>A r.(?) p.(Arg402Gln) g.63670145G>A Copied from the Exome Variant Server MARK2_000064 2/12996 1/8594 1/4402
?/? c.1221G>A r.(=) p.(=) g.63670161G>A Copied from the Exome Variant Server MARK2_000065 1/12996 1/8594 0/4402
?/? c.1275C>A r.(=) p.(=) g.63670215C>A Copied from the Exome Variant Server MARK2_000066 116/12996 1/8594 115/4402
?/? c.1276G>A r.(?) p.(Gly426Ser) g.63670216G>A Copied from the Exome Variant Server MARK2_000067 1/12996 0/8594 1/4402
?/? c.1295C>G r.(?) p.(Thr432Ser) g.63670235C>G Copied from the Exome Variant Server MARK2_000068 1/12996 1/8594 0/4402
?/? c.1314+8G>A r.(=) p.(=) g.63670262G>A Copied from the Exome Variant Server MARK2_000069 1/12994 1/8594 0/4400
?/? c.1314+9_1314+10insA r.(=) p.(=) g.63670263_63670264insA Copied from the Exome Variant Server MARK2_000070 1/12508 1/8248 0/4260
?/? c.1314+11C>A r.(=) p.(=) g.63670265C>A Copied from the Exome Variant Server MARK2_000071 1/12990 1/8592 0/4398
?/? c.1314+16C>T r.(=) p.(=) g.63670270C>T Copied from the Exome Variant Server MARK2_000072 1/12982 0/8586 1/4396
?/? c.1314+17G>A r.(=) p.(=) g.63670271G>A Copied from the Exome Variant Server MARK2_000073 1/12984 1/8588 0/4396
?/? c.1320C>T r.(=) p.(=) g.63670538C>T Copied from the Exome Variant Server MARK2_000074 1/12996 0/8594 1/4402
?/? c.1321G>A r.(?) p.(Val441Ile) g.63670539G>A Copied from the Exome Variant Server MARK2_000075 1/12996 1/8594 0/4402
?/? c.1340A>T r.(?) p.(Asn447Ile) g.63670558A>T Copied from the Exome Variant Server MARK2_000076 1/12996 1/8594 0/4402
?/? c.1380C>T r.(=) p.(=) g.63670598C>T Copied from the Exome Variant Server MARK2_000077 20/12996 20/8594 0/4402
?/? c.1412+16C>T r.(=) p.(=) g.63670646C>T Copied from the Exome Variant Server MARK2_000078 1/12996 1/8594 0/4402
?/? c.1412+28A>G r.(=) p.(=) g.63670658A>G Copied from the Exome Variant Server MARK2_000079 53/12996 0/8594 53/4402
?/? c.1413-51C>T r.(=) p.(=) g.63671407C>T Copied from the Exome Variant Server MARK2_000080 1/12000 0/8212 1/3788
?/? c.1413-31C>T r.(=) p.(=) g.63671427C>T Copied from the Exome Variant Server MARK2_000081 1/11932 1/8194 0/3738
?/? c.1413-31_1413-30insA r.(=) p.(=) g.63671427_63671428insA Copied from the Exome Variant Server MARK2_000082 1/11472 0/7856 1/3616
?/? c.1413-29C>T r.(=) p.(=) g.63671429C>T Copied from the Exome Variant Server MARK2_000083 11/11928 2/8196 9/3732
?/? c.1413-19C>T r.(=) p.(=) g.63671439C>T Copied from the Exome Variant Server MARK2_000084 1/11892 1/8182 0/3710
?/? c.1413C>T r.(=) p.(=) g.63671458C>T Copied from the Exome Variant Server MARK2_000085 1/11828 1/8170 0/3658
?/? c.1432C>T r.(?) p.(Arg478Trp) g.63671477C>T Copied from the Exome Variant Server MARK2_000086 1/11780 1/8150 0/3630
?/? c.1445C>T r.(?) p.(Ala482Val) g.63671490C>T Copied from the Exome Variant Server MARK2_000087 1/11776 1/8142 0/3634
?/? c.1469C>T r.(?) p.(Ala490Val) g.63671514C>T Copied from the Exome Variant Server MARK2_000088 2/11762 2/8126 0/3636
?/? c.1470G>A r.(=) p.(=) g.63671515G>A Copied from the Exome Variant Server MARK2_000089 1/11750 1/8122 0/3628
?/? c.1503G>A r.(=) p.(=) g.63671548G>A Copied from the Exome Variant Server MARK2_000090 1/11826 1/8146 0/3680
?/? c.1525G>A r.(?) p.(Ala509Thr) g.63671570G>A Copied from the Exome Variant Server MARK2_000091 2/11832 2/8154 0/3678
?/? c.1566G>A r.(=) p.(=) g.63671611G>A Copied from the Exome Variant Server MARK2_000092 2/11774 2/8096 0/3678
?/? c.1575-31G>A r.(=) p.(=) g.63672227G>A Copied from the Exome Variant Server MARK2_000093 1/12996 1/8594 0/4402
?/? c.1621A>G r.(?) p.(Ile541Val) g.63672304A>G Copied from the Exome Variant Server MARK2_000094 1/12996 1/8594 0/4402
?/? c.1708C>A r.(?) p.(Gln570Lys) g.63672391C>A Copied from the Exome Variant Server MARK2_000095 1/12996 1/8594 0/4402
?/? c.1737C>T r.(=) p.(=) g.63672420C>T Copied from the Exome Variant Server MARK2_000096 1/12996 1/8594 0/4402
?/? c.1741G>A r.(?) p.(Val581Met) g.63672424G>A Copied from the Exome Variant Server MARK2_000097 1/12996 1/8594 0/4402
?/? c.1796G>A r.(?) p.(Ser599Asn) g.63672479G>A Copied from the Exome Variant Server MARK2_000098 10/12994 9/8592 1/4402
?/? c.1832+21G>A r.(=) p.(=) g.63672536G>A Copied from the Exome Variant Server MARK2_000099 2/12946 0/8574 2/4372
?/? c.1832+24A>T r.(=) p.(=) g.63672539A>T Copied from the Exome Variant Server MARK2_000100 1/12934 1/8566 0/4368
Legend   « First ‹ Prev     1 2     Next › Last »