Full data view for gene MARK3

Information The variants shown are described using the NM_001128918.1 transcript reference sequence.

141 entries on 2 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-70G>T r.(=) p.(=) g.103852297G>T Copied from the Exome Variant Server MARK3_000001 2/4566 2/3182 0/1384 - - - - - - -
?/? c.-52C>T r.(=) p.(=) g.103852315C>T Copied from the Exome Variant Server MARK3_000002 1/10300 0/7164 1/3136 - - - - - - -
?/? c.43A>G r.(?) p.(Thr15Ala) g.103852409A>G Copied from the Exome Variant Server MARK3_000003 1/12536 0/8404 1/4132 - - - - - - -
?/? c.47A>T r.(?) p.(Glu16Val) g.103852413A>T Copied from the Exome Variant Server MARK3_000004 1/12542 0/8406 1/4136 - - - - - - -
?/? c.51+39G>T r.(=) p.(=) g.103852456G>T Copied from the Exome Variant Server MARK3_000005 1/12562 1/8402 0/4160 - - - - - - -
?/? c.52-43_52-42del r.(=) p.(=) g.103871370_103871371del Copied from the Exome Variant Server MARK3_000006 1/11458 1/7864 0/3594 - - - - - - -
?/? c.56C>T r.(?) p.(Thr19Met) g.103871417C>T Copied from the Exome Variant Server MARK3_000007 1/12010 1/8234 0/3776 - - - - - - -
?/? c.74G>A r.(?) p.(Arg25His) g.103871435G>A Copied from the Exome Variant Server MARK3_000008 1/12010 1/8236 0/3774 - - - - - - -
?/? c.92G>A r.(?) p.(Arg31His) g.103871453G>A Copied from the Exome Variant Server MARK3_000009 2/11994 0/8226 2/3768 - - - - - - -
?/? c.123C>T r.(=) p.(=) g.103871484C>T Copied from the Exome Variant Server MARK3_000010 8/11988 1/8236 7/3752 - - - - - - -
?/? c.127A>G r.(?) p.(Ile43Val) g.103871488A>G Copied from the Exome Variant Server MARK3_000011 14/11994 1/8240 13/3754 - - - - - - -
?/? c.132C>T r.(=) p.(=) g.103871493C>T Copied from the Exome Variant Server MARK3_000012 1/11990 1/8240 0/3750 - - - - - - -
?/? c.174G>C r.(=) p.(=) g.103871535G>C Copied from the Exome Variant Server MARK3_000013 1/11924 1/8222 0/3702 - - - - - - -
?/? c.190A>G r.(?) p.(Lys64Glu) g.103871551A>G Copied from the Exome Variant Server MARK3_000014 1/11886 0/8214 1/3672 - - - - - - -
?/? c.243+20A>G r.(=) p.(=) g.103871624A>G Copied from the Exome Variant Server MARK3_000015 21/11846 0/8186 21/3660 - - - - - - -
?/? c.243+42_243+45del r.(=) p.(=) g.103871646_103871649del Copied from the Exome Variant Server MARK3_000016 1/11394 1/7842 0/3552 - - - - - - -
?/? c.244-20A>G r.(=) p.(=) g.103894704A>G Copied from the Exome Variant Server MARK3_000017 1/10954 0/7606 1/3348 - - - - - - -
?/? c.244-18A>G r.(=) p.(=) g.103894706A>G Copied from the Exome Variant Server MARK3_000018 154/11020 3/7652 151/3368 - - - - - - -
?/? c.298-44_298-40del r.(=) p.(=) g.103915212_103915216del Copied from the Exome Variant Server MARK3_000019 2222/11086 1887/7640 335/3446 - - - - - - -
?/? c.298-43_298-39del r.(=) p.(=) g.103915213_103915217del Copied from the Exome Variant Server MARK3_000020 2733/11070 2354/7630 379/3440 - - - - - - -
?/? c.298-40_298-37del r.(=) p.(=) g.103915216_103915219del Copied from the Exome Variant Server MARK3_000021 478/11072 431/7632 47/3440 - - - - - - -
?/? c.298-40_298-36del r.(=) p.(=) g.103915216_103915220del Copied from the Exome Variant Server MARK3_000022 2280/11072 1944/7632 336/3440 - - - - - - -
?/? c.298-30A>G r.(=) p.(=) g.103915226A>G Copied from the Exome Variant Server MARK3_000024 849/11608 795/8042 54/3566 - - - - - - -
?/? c.298-30del r.(=) p.(=) g.103915226del Copied from the Exome Variant Server MARK3_000023 2827/11170 2445/7708 382/3462 - - - - - - -
?/? c.298-21_298-18del r.(=) p.(=) g.103915235_103915238del Copied from the Exome Variant Server MARK3_000025 27/11194 9/7732 18/3462 - - - - - - -
?/? c.298-10T>G r.(=) p.(=) g.103915246T>G Copied from the Exome Variant Server MARK3_000026 3/11640 2/8070 1/3570 - - - - - - -
?/? c.346+4C>T r.spl? p.? g.103915308C>T Copied from the Exome Variant Server MARK3_000027 1/11666 1/8086 0/3580 - - - - - - -
?/? c.346+5T>A r.spl? p.? g.103915309T>A Copied from the Exome Variant Server MARK3_000028 3/11662 2/8082 1/3580 - - - - - - -
?/? c.346+22A>G r.(=) p.(=) g.103915326A>G Copied from the Exome Variant Server MARK3_000029 1/11670 0/8086 1/3584 - - - - - - -
?/? c.346+23T>C r.(=) p.(=) g.103915327T>C Copied from the Exome Variant Server MARK3_000030 1/11664 0/8082 1/3582 - - - - - - -
?/? c.347-65A>G r.(=) p.(=) g.103918190A>G Copied from the Exome Variant Server MARK3_000031 3/4566 0/3182 3/1384 - - - - - - -
?/? c.347-24T>C r.(=) p.(=) g.103918231T>C Copied from the Exome Variant Server MARK3_000032 1/11930 0/8222 1/3708 - - - - - - -
?/? c.347-21G>A r.(=) p.(=) g.103918234G>A Copied from the Exome Variant Server MARK3_000033 1/11928 1/8222 0/3706 - - - - - - -
?/? c.347-14_347-12del r.(=) p.(=) g.103918241_103918243del Copied from the Exome Variant Server MARK3_000034 1/11458 0/7876 1/3582 - - - - - - -
?/? c.347-4G>T r.spl? p.? g.103918251G>T Copied from the Exome Variant Server MARK3_000035 1/11926 0/8224 1/3702 - - - - - - -
?/? c.355T>C r.(?) p.(Phe119Leu) g.103918263T>C Copied from the Exome Variant Server MARK3_000036 1/11928 0/8222 1/3706 - - - - - - -
?/? c.357C>T r.(=) p.(=) g.103918265C>T Copied from the Exome Variant Server MARK3_000037 2/11922 0/8216 2/3706 - - - - - - -
?/? c.373_374insA r.(?) p.(Thr127Asnfs*13) g.103918281_103918282insA Copied from the Exome Variant Server MARK3_000038 1/11398 0/7842 1/3556 - - - - - - -
?/? c.412+17A>G r.(=) p.(=) g.103918337A>G Copied from the Exome Variant Server MARK3_000039 1/11746 1/8136 0/3610 - - - - - - -
?/? c.412+31T>C r.(=) p.(=) g.103918351T>C Copied from the Exome Variant Server MARK3_000040 8/11742 8/8132 0/3610 - - - - - - -
?/? c.413-65A>G r.(=) p.(=) g.103923414A>G Copied from the Exome Variant Server MARK3_000041 1281/4564 1150/3180 131/1384 - - - - - - -
?/? c.413-58G>A r.(=) p.(=) g.103923421G>A Copied from the Exome Variant Server MARK3_000042 290/4564 127/3180 163/1384 - - - - - - -
?/? c.413-11C>T r.(=) p.(=) g.103923468C>T Copied from the Exome Variant Server MARK3_000043 1/11778 0/8160 1/3618 - - - - - - -
?/? c.413-4A>G r.spl? p.? g.103923475A>G Copied from the Exome Variant Server MARK3_000044 4182/11802 2957/8168 1225/3634 - - - - - - -
?/? c.465A>G r.(=) p.(=) g.103923531A>G Copied from the Exome Variant Server MARK3_000045 1/11858 1/8172 0/3686 - - - - - - -
?/? c.483+30A>G r.(=) p.(=) g.103923579A>G Copied from the Exome Variant Server MARK3_000046 83/11890 81/8196 2/3694 - - - - - - -
?/? c.483+1465T>C r.(=) p.(=) g.103925014T>C Copied from the Exome Variant Server MARK3_000047 12/5476 1/3810 11/1666 - - - - - - -
?/? c.484-68C>G r.(=) p.(=) g.103928674C>G Copied from the Exome Variant Server MARK3_000048 4/4566 0/3182 4/1384 - - - - - - -
?/? c.484-60del r.(=) p.(=) g.103928682del Copied from the Exome Variant Server MARK3_000049 6/11790 3/7966 3/3824 - - - - - - -
?/? c.484-15G>A r.(=) p.(=) g.103928727G>A Copied from the Exome Variant Server MARK3_000050 13/12466 0/8378 13/4088 - - - - - - -
?/? c.484-9C>T r.(=) p.(=) g.103928733C>T Copied from the Exome Variant Server MARK3_000051 2/12456 0/8380 2/4076 - - - - - - -
?/? c.484-6A>G r.(=) p.(=) g.103928736A>G Copied from the Exome Variant Server MARK3_000052 1/12460 1/8384 0/4076 - - - - - - -
?/? c.485T>C r.(?) p.(Ile162Thr) g.103928743T>C Copied from the Exome Variant Server MARK3_000053 1/12490 0/8390 1/4100 - - - - - - -
?/? c.501A>G r.(=) p.(=) g.103928759A>G Copied from the Exome Variant Server MARK3_000054 1/12512 1/8410 0/4102 - - - - - - -
?/? c.522C>T r.(=) p.(=) g.103928780C>T Copied from the Exome Variant Server MARK3_000055 1/12466 1/8390 0/4076 - - - - - - -
?/? c.540+14C>T r.(=) p.(=) g.103928812C>T Copied from the Exome Variant Server MARK3_000056 1/12430 1/8388 0/4042 - - - - - - -
?/? c.540+21C>T r.(=) p.(=) g.103928819C>T Copied from the Exome Variant Server MARK3_000057 347/12394 6/8374 341/4020 - - - - - - -
?/? c.541-15A>G r.(=) p.(=) g.103931879A>G Copied from the Exome Variant Server MARK3_000058 3735/11806 2220/8158 1515/3648 - - - - - - -
?/? c.541-2A>G r.spl? p.? g.103931892A>G Copied from the Exome Variant Server MARK3_000059 1/11824 0/8162 1/3662 - - - - - - -
?/? c.627C>T r.(=) p.(=) g.103931980C>T Copied from the Exome Variant Server MARK3_000060 2/12262 2/8328 0/3934 - - - - - - -
?/? c.629A>G r.(?) p.(Asp210Gly) g.103931982A>G Copied from the Exome Variant Server MARK3_000061 1/12290 0/8340 1/3950 - - - - - - -
?/? c.654C>T r.(=) p.(=) g.103932007C>T Copied from the Exome Variant Server MARK3_000062 1/12436 0/8400 1/4036 - - - - - - -
?/? c.777+17C>G r.(=) p.(=) g.103932147C>G Copied from the Exome Variant Server MARK3_000063 2/12128 0/8286 2/3842 - - - - - - -
?/? c.783G>A r.(=) p.(=) g.103932314G>A Copied from the Exome Variant Server MARK3_000064 1/11842 1/8178 0/3664 - - - - - - -
?/? c.787G>C r.(?) p.(Glu263Gln) g.103932318G>C Copied from the Exome Variant Server MARK3_000065 1/11844 1/8180 0/3664 - - - - - - -
?/? c.818C>T r.(?) p.(Pro273Leu) g.103932349C>T Copied from the Exome Variant Server MARK3_000066 1/11892 0/8186 1/3706 - - - - - - -
?/? c.872A>T r.(?) p.(Asn291Ile) g.103932403A>T Copied from the Exome Variant Server MARK3_000067 1/11908 1/8208 0/3700 - - - - - - -
?/? c.885C>T r.(=) p.(=) g.103932416C>T Copied from the Exome Variant Server MARK3_000068 1/11888 1/8200 0/3688 - - - - - - -
?/? c.886G>C r.(?) p.(Gly296Arg) g.103932417G>C Copied from the Exome Variant Server MARK3_000069 5/11898 5/8204 0/3694 - - - - - - -
?/? c.889A>T r.(?) p.(Thr297Ser) g.103932420A>T Copied from the Exome Variant Server MARK3_000070 1/11904 1/8208 0/3696 - - - - - - -
?/? c.898-52G>A r.(=) p.(=) g.103932628G>A Copied from the Exome Variant Server MARK3_000071 1/5734 1/3982 0/1752 - - - - - - -
?/? c.898-23A>G r.(=) p.(=) g.103932657A>G Copied from the Exome Variant Server MARK3_000072 7/11858 0/8180 7/3678 - - - - - - -
?/? c.997+15C>T r.(=) p.(=) g.103932794C>T Copied from the Exome Variant Server MARK3_000073 1/12126 1/8284 0/3842 - - - - - - -
?/? c.997+16C>T r.(=) p.(=) g.103932795C>T Copied from the Exome Variant Server MARK3_000074 1/12130 1/8284 0/3846 - - - - - - -
?/? c.998-18A>G r.(=) p.(=) g.103933398A>G Copied from the Exome Variant Server MARK3_000075 1/11792 0/8148 1/3644 - - - - - - -
?/? c.1003A>G r.(?) p.(Met335Val) g.103933421A>G Copied from the Exome Variant Server MARK3_000076 1/11780 1/8136 0/3644 - - - - - - -
?/? c.1038A>G r.(=) p.(=) g.103933456A>G Copied from the Exome Variant Server MARK3_000077 1/11770 1/8140 0/3630 - - - - - - -
?/? c.1051A>G r.(?) p.(Lys351Glu) g.103933469A>G Copied from the Exome Variant Server MARK3_000078 6/11768 0/8142 6/3626 - - - - - - -
?/? c.1080A>G r.(=) p.(=) g.103933498A>G Copied from the Exome Variant Server MARK3_000079 3/11754 3/8142 0/3612 - - - - - - -
?/? c.1110+13_1110+16del r.(=) p.(=) g.103933541_103933544del Copied from the Exome Variant Server MARK3_000080 5/11284 1/7794 4/3490 - - - - - - -
?/? c.1110+28A>G r.(=) p.(=) g.103933556A>G Copied from the Exome Variant Server MARK3_000081 3723/11716 2220/8122 1503/3594 - - - - - - -
?/? c.1111-48A>G r.(=) p.(=) g.103934322A>G Copied from the Exome Variant Server MARK3_000082 1/12030 1/8252 0/3778 - - - - - - -
?/? c.1130G>C r.(?) p.(Ser377Thr) g.103934389G>C Copied from the Exome Variant Server MARK3_000083 1/12168 1/8292 0/3876 - - - - - - -
?/? c.1148C>T r.(?) p.(Ser383Leu) g.103934407C>T Copied from the Exome Variant Server MARK3_000084 1/12204 1/8314 0/3890 - - - - - - -
?/? c.1168A>C r.(?) p.(Ser390Arg) g.103934427A>C Copied from the Exome Variant Server MARK3_000085 1/12256 1/8322 0/3934 - - - - - - -
?/? c.1199C>G r.(?) p.(Ser400Cys) g.103934458C>G Copied from the Exome Variant Server MARK3_000086 1/12266 1/8338 0/3928 - - - - - - -
?/? c.1206C>T r.(=) p.(=) g.103934465C>T Copied from the Exome Variant Server MARK3_000087 1/12258 1/8334 0/3924 - - - - - - -
?/? c.1225G>A r.(?) p.(Val409Ile) g.103934484G>A Copied from the Exome Variant Server MARK3_000088 5/12242 0/8320 5/3922 - - - - - - -
?/? c.1264+6T>C r.(=) p.(=) g.103934529T>C Copied from the Exome Variant Server MARK3_000089 5/12160 5/8284 0/3876 - - - - - - -
?/? c.1264+41G>C r.(=) p.(=) g.103934564G>C Copied from the Exome Variant Server MARK3_000090 4/12064 4/8256 0/3808 - - - - - - -
?/? c.1268G>A r.(?) p.(Gly423Glu) g.103941333G>A Copied from the Exome Variant Server MARK3_000091 1/12156 1/8298 0/3858 - - - - - - -
?/? c.1293G>A r.(=) p.(=) g.103941358G>A Copied from the Exome Variant Server MARK3_000092 28/12310 0/8346 28/3964 - - - - - - -
?/? c.1297C>G r.(?) p.(Pro433Ala) g.103941362C>G Copied from the Exome Variant Server MARK3_000093 1/12320 1/8346 0/3974 - - - - - - -
?/? c.1298C>T r.(?) p.(Pro433Leu) g.103941363C>T Copied from the Exome Variant Server MARK3_000094 1/12322 1/8348 0/3974 - - - - - - -
?/? c.1299G>A r.(=) p.(=) g.103941364G>A Copied from the Exome Variant Server MARK3_000095 1/12320 1/8350 0/3970 - - - - - - -
?/? c.1314C>A r.(=) p.(=) g.103941379C>A Copied from the Exome Variant Server MARK3_000096 578/12336 1/8354 577/3982 - - - - - - -
?/? c.1327A>G r.(?) p.(Ser443Gly) g.103941392A>G Copied from the Exome Variant Server MARK3_000097 578/12338 1/8344 577/3994 - - - - - - -
?/? c.1389G>A r.(=) p.(=) g.103941454G>A Copied from the Exome Variant Server MARK3_000098 98/12182 95/8292 3/3890 - - - - - - -
?/? c.1399C>T r.(?) p.(Pro467Ser) g.103941464C>T Copied from the Exome Variant Server MARK3_000099 3/12172 0/8288 3/3884 - - - - - - -
?/? c.1442C>G r.(?) p.(Ala481Gly) g.103941507C>G Copied from the Exome Variant Server MARK3_000100 4/12132 0/8260 4/3872 - - - - - - -
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