Full data view for gene MAPK6

Information The variants shown are described using the NM_002748.3 transcript reference sequence.

91 entries on 1 page. Showing entries 1 - 91.
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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.-43C>T r.(=) p.(=) g.52338615C>T Copied from the Exome Variant Server MAPK6_000001 2/12960 0/8582 2/4378 - - - - - - -
?/? c.-35A>G r.(=) p.(=) g.52338623A>G Copied from the Exome Variant Server MAPK6_000002 1/12962 1/8582 0/4380 - - - - - - -
?/? c.76T>C r.(=) p.(=) g.52338733T>C Copied from the Exome Variant Server MAPK6_000003 1/12976 1/8586 0/4390 - - - - - - -
?/? c.96_97insT r.(?) p.(Leu33Phefs*9) g.52338753_52338754insT Copied from the Exome Variant Server MAPK6_000004 32/12518 25/8254 7/4264 - - - - - - -
?/? c.214C>G r.(?) p.(Leu72Val) g.52338871C>G Copied from the Exome Variant Server MAPK6_000005 2/12976 2/8586 0/4390 - - - - - - -
?/? c.229A>G r.(?) p.(Ile77Val) g.52338886A>G Copied from the Exome Variant Server MAPK6_000006 1/12976 0/8586 1/4390 - - - - - - -
?/? c.279C>T r.(=) p.(=) g.52338936C>T Copied from the Exome Variant Server MAPK6_000007 1/12976 0/8586 1/4390 - - - - - - -
?/? c.297G>A r.(=) p.(=) g.52338954G>A Copied from the Exome Variant Server MAPK6_000008 1/12976 1/8586 0/4390 - - - - - - -
?/? c.313T>C r.(?) p.(Tyr105His) g.52338970T>C Copied from the Exome Variant Server MAPK6_000009 2/12976 2/8586 0/4390 - - - - - - -
?/? c.318T>C r.(=) p.(=) g.52338975T>C Copied from the Exome Variant Server MAPK6_000010 1/12976 1/8586 0/4390 - - - - - - -
?/? c.398T>C r.(?) p.(Met133Thr) g.52339055T>C Copied from the Exome Variant Server MAPK6_000011 1/12972 1/8582 0/4390 - - - - - - -
?/? c.448_449del r.(?) p.(His150Glnfs*7) g.52339105_52339106del Copied from the Exome Variant Server MAPK6_000012 75/12516 51/8254 24/4262 - - - - - - -
?/? c.555+20T>C r.(=) p.(=) g.52339232T>C Copied from the Exome Variant Server MAPK6_000013 1/12246 1/8224 0/4022 - - - - - - -
?/? c.555+42A>T r.(=) p.(=) g.52339254A>T Copied from the Exome Variant Server MAPK6_000014 1/11774 1/7962 0/3812 - - - - - - -
?/? c.556-32_556-31insA r.(=) p.(=) g.52342158_52342159insA Copied from the Exome Variant Server MAPK6_000015 4/12514 0/8252 4/4262 - - - - - - -
?/? c.556-24del r.(=) p.(=) g.52342166del Copied from the Exome Variant Server MAPK6_000016 1/12514 1/8252 0/4262 - - - - - - -
?/? c.556-22A>G r.(=) p.(=) g.52342168A>G Copied from the Exome Variant Server MAPK6_000017 29/12972 0/8584 29/4388 - - - - - - -
?/? c.556-16T>G r.(=) p.(=) g.52342174T>G Copied from the Exome Variant Server MAPK6_000018 7/12976 7/8586 0/4390 - - - - - - -
?/? c.601C>T r.(?) p.(Arg201Cys) g.52342235C>T Copied from the Exome Variant Server MAPK6_000019 1/12976 1/8586 0/4390 - - - - - - -
?/? c.602G>A r.(?) p.(Arg201His) g.52342236G>A Copied from the Exome Variant Server MAPK6_000020 1/12976 0/8586 1/4390 - - - - - - -
?/? c.604C>T r.(?) p.(Leu202Phe) g.52342238C>T Copied from the Exome Variant Server MAPK6_000021 1/12976 0/8586 1/4390 - - - - - - -
?/? c.653C>G r.(?) p.(Ala218Gly) g.52342287C>G Copied from the Exome Variant Server MAPK6_000022 1/12976 1/8586 0/4390 - - - - - - -
?/? c.661A>G r.(?) p.(Ile221Val) g.52342295A>G Copied from the Exome Variant Server MAPK6_000023 1/12976 1/8586 0/4390 - - - - - - -
?/? c.673A>T r.(?) p.(Met225Leu) g.52342307A>T Copied from the Exome Variant Server MAPK6_000024 2/12976 0/8586 2/4390 - - - - - - -
?/? c.697G>C r.(?) p.(Ala233Pro) g.52342331G>C Copied from the Exome Variant Server MAPK6_000025 1/12968 1/8582 0/4386 - - - - - - -
?/? c.700+22A>C r.(=) p.(=) g.52342356A>C Copied from the Exome Variant Server MAPK6_000026 2/12918 2/8576 0/4342 - - - - - - -
?/? c.700+23A>T r.(=) p.(=) g.52342357A>T Copied from the Exome Variant Server MAPK6_000027 9/12908 9/8572 0/4336 - - - - - - -
?/? c.701-27del r.(=) p.(=) g.52350803del Copied from the Exome Variant Server MAPK6_000028 1/12514 1/8254 0/4260 - - - - - - -
?/? c.701-26_701-23del r.(=) p.(=) g.52350804_52350807del Copied from the Exome Variant Server MAPK6_000029 17/12512 6/8254 11/4258 - - - - - - -
?/? c.738A>G r.(=) p.(=) g.52350867A>G Copied from the Exome Variant Server MAPK6_000030 1/12976 1/8586 0/4390 - - - - - - -
?/? c.750T>C r.(=) p.(=) g.52350879T>C Copied from the Exome Variant Server MAPK6_000031 942/12976 109/8586 833/4390 - - - - - - -
?/? c.778C>G r.(?) p.(Leu260Val) g.52350907C>G Copied from the Exome Variant Server MAPK6_000032 1/12976 0/8586 1/4390 - - - - - - -
?/? c.783C>T r.(=) p.(=) g.52350912C>T Copied from the Exome Variant Server MAPK6_000033 1/12976 1/8586 0/4390 - - - - - - -
?/? c.834A>G r.(=) p.(=) g.52350963A>G Copied from the Exome Variant Server MAPK6_000034 1/12976 0/8586 1/4390 - - - - - - -
?/? c.859C>G r.(?) p.(Arg287Gly) g.52350988C>G Copied from the Exome Variant Server MAPK6_000035 1/12976 1/8586 0/4390 - - - - - - -
?/? c.865+3A>G r.spl? p.? g.52350997A>G Copied from the Exome Variant Server MAPK6_000036 1/12976 1/8586 0/4390 - - - - - - -
?/? c.865+12C>T r.(=) p.(=) g.52351006C>T Copied from the Exome Variant Server MAPK6_000037 13/12976 13/8586 0/4390 - - - - - - -
?/? c.865+13G>A r.(=) p.(=) g.52351007G>A Copied from the Exome Variant Server MAPK6_000038 150/12976 134/8586 16/4390 - - - - - - -
?/? c.865+20_865+21insC r.(=) p.(=) g.52351014_52351015insC Copied from the Exome Variant Server MAPK6_000039 9/12518 9/8254 0/4264 - - - - - - -
?/? c.865+36_865+37insT r.(=) p.(=) g.52351030_52351031insT Copied from the Exome Variant Server MAPK6_000040 3/12514 0/8250 3/4264 - - - - - - -
?/? c.866-38A>G r.(=) p.(=) g.52353458A>G Copied from the Exome Variant Server MAPK6_000041 2/12968 2/8578 0/4390 - - - - - - -
?/? c.866-28T>C r.(=) p.(=) g.52353468T>C Copied from the Exome Variant Server MAPK6_000042 28/12968 1/8578 27/4390 - - - - - - -
?/? c.866-25A>C r.(=) p.(=) g.52353471A>C Copied from the Exome Variant Server MAPK6_000043 5/12972 5/8582 0/4390 - - - - - - -
?/? c.868C>G r.(?) p.(Leu290Val) g.52353498C>G Copied from the Exome Variant Server MAPK6_000044 894/12976 794/8586 100/4390 - - - - - - -
?/? c.879G>C r.(=) p.(=) g.52353509G>C Copied from the Exome Variant Server MAPK6_000045 1/12976 1/8586 0/4390 - - - - - - -
?/? c.926A>C r.(?) p.(Glu309Ala) g.52353556A>C Copied from the Exome Variant Server MAPK6_000046 1/12976 0/8586 1/4390 - - - - - - -
?/? c.1067+24_1067+26del r.(=) p.(=) g.52353721_52353723del Copied from the Exome Variant Server MAPK6_000047 15/12422 14/8220 1/4202 - - - - - - -
?/? c.1067+41T>G r.(=) p.(=) g.52353738T>G Copied from the Exome Variant Server MAPK6_000048 4/12844 0/8544 4/4300 - - - - - - -
?/? c.1067+43T>C r.(=) p.(=) g.52353740T>C Copied from the Exome Variant Server MAPK6_000049 397/12836 0/8544 397/4292 - - - - - - -
?/? c.1068-33G>A r.(=) p.(=) g.52356066G>A Copied from the Exome Variant Server MAPK6_000050 2/12976 1/8586 1/4390 - - - - - - -
?/? c.1068-23G>C r.(=) p.(=) g.52356076G>C Copied from the Exome Variant Server MAPK6_000051 2/12976 0/8586 2/4390 - - - - - - -
?/? c.1068-18T>C r.(=) p.(=) g.52356081T>C Copied from the Exome Variant Server MAPK6_000052 1/12976 0/8586 1/4390 - - - - - - -
?/? c.1068-11_1068-10insT r.(=) p.(=) g.52356088_52356089insT Copied from the Exome Variant Server MAPK6_000053 14/12518 13/8254 1/4264 - - - - - - -
?/? c.1105G>A r.(?) p.(Val369Ile) g.52356136G>A Copied from the Exome Variant Server MAPK6_000054 7/12976 0/8586 7/4390 - - - - - - -
?/? c.1159G>A r.(?) p.(Asp387Asn) g.52356190G>A Copied from the Exome Variant Server MAPK6_000055 1/12976 0/8586 1/4390 - - - - - - -
?/? c.1166C>T r.(?) p.(Thr389Ile) g.52356197C>T Copied from the Exome Variant Server MAPK6_000056 1/12976 1/8586 0/4390 - - - - - - -
?/? c.1178A>T r.(?) p.(Glu393Val) g.52356209A>T Copied from the Exome Variant Server MAPK6_000057 1/12976 0/8586 1/4390 - - - - - - -
?/? c.1250C>T r.(?) p.(Thr417Ile) g.52356281C>T Copied from the Exome Variant Server MAPK6_000058 1/12974 1/8584 0/4390 - - - - - - -
?/? c.1253A>G r.(?) p.(Asn418Ser) g.52356284A>G Copied from the Exome Variant Server MAPK6_000059 3/12974 0/8584 3/4390 - - - - - - -
?/? c.1267C>G r.(?) p.(Pro423Ala) g.52356298C>G Copied from the Exome Variant Server MAPK6_000060 2/12974 0/8584 2/4390 - - - - - - -
?/? c.1282T>C r.(?) p.(Ser428Pro) g.52356313T>C Copied from the Exome Variant Server MAPK6_000061 19/12974 0/8584 19/4390 - - - - - - -
?/? c.1290T>C r.(=) p.(=) g.52356321T>C Copied from the Exome Variant Server MAPK6_000062 1/12970 0/8584 1/4386 - - - - - - -
?/? c.1305T>C r.(=) p.(=) g.52356336T>C Copied from the Exome Variant Server MAPK6_000063 1/12970 1/8584 0/4386 - - - - - - -
?/? c.1321A>G r.(?) p.(Ser441Gly) g.52356352A>G Copied from the Exome Variant Server MAPK6_000064 1/12974 0/8584 1/4390 - - - - - - -
?/? c.1328C>G r.(?) p.(Thr443Ser) g.52356359C>G Copied from the Exome Variant Server MAPK6_000065 1/12972 1/8584 0/4388 - - - - - - -
?/? c.1448G>A r.(?) p.(Ser483Asn) g.52356479G>A Copied from the Exome Variant Server MAPK6_000066 2/12974 2/8586 0/4388 - - - - - - -
?/? c.1463A>G r.(?) p.(Asp488Gly) g.52356494A>G Copied from the Exome Variant Server MAPK6_000067 1/12968 1/8580 0/4388 - - - - - - -
?/? c.1518G>A r.(=) p.(=) g.52356549G>A Copied from the Exome Variant Server MAPK6_000068 1/12904 1/8542 0/4362 - - - - - - -
?/? c.1552G>C r.(?) p.(Glu518Gln) g.52356583G>C Copied from the Exome Variant Server MAPK6_000069 1/12964 0/8578 1/4386 - - - - - - -
?/? c.1558G>A r.(?) p.(Glu520Lys) g.52356589G>A Copied from the Exome Variant Server MAPK6_000070 1/12966 1/8580 0/4386 - - - - - - -
?/? c.1560A>C r.(?) p.(Glu520Asp) g.52356591A>C Copied from the Exome Variant Server MAPK6_000071 7/12966 6/8580 1/4386 - - - - - - -
?/? c.1587C>T r.(=) p.(=) g.52356618C>T Copied from the Exome Variant Server MAPK6_000072 2/12958 2/8576 0/4382 - - - - - - -
?/? c.1603A>G r.(?) p.(Ile535Val) g.52356634A>G Copied from the Exome Variant Server MAPK6_000073 1/12946 1/8570 0/4376 - - - - - - -
?/? c.1638T>C r.(=) p.(=) g.52356669T>C Copied from the Exome Variant Server MAPK6_000074 1/12862 1/8522 0/4340 - - - - - - -
?/? c.1666T>A r.(?) p.(Ser556Thr) g.52356697T>A Copied from the Exome Variant Server MAPK6_000075 5/12900 0/8546 5/4354 - - - - - - -
?/? c.1723C>A r.(?) p.(Gln575Lys) g.52356754C>A Copied from the Exome Variant Server MAPK6_000076 2/12958 0/8580 2/4378 - - - - - - -
?/? c.1724A>G r.(?) p.(Gln575Arg) g.52356755A>G Copied from the Exome Variant Server MAPK6_000077 1/12962 1/8584 0/4378 - - - - - - -
?/? c.1733G>A r.(?) p.(Gly578Glu) g.52356764G>A Copied from the Exome Variant Server MAPK6_000078 1/12966 1/8584 0/4382 - - - - - - -
?/? c.1770G>A r.(=) p.(=) g.52356801G>A Copied from the Exome Variant Server MAPK6_000079 1/12968 0/8586 1/4382 - - - - - - -
?/? c.1846G>C r.(?) p.(Asp616His) g.52356877G>C Copied from the Exome Variant Server MAPK6_000080 3/12976 3/8586 0/4390 - - - - - - -
?/? c.1872T>C r.(=) p.(=) g.52356903T>C Copied from the Exome Variant Server MAPK6_000081 1/12976 0/8586 1/4390 - - - - - - -
?/? c.1875C>G r.(?) p.(Tyr625*) g.52356906C>G Copied from the Exome Variant Server MAPK6_000082 1/12976 1/8586 0/4390 - - - - - - -
?/? c.1905G>A r.(=) p.(=) g.52356936G>A Copied from the Exome Variant Server MAPK6_000083 2/12976 2/8586 0/4390 - - - - - - -
?/? c.1959G>A r.(=) p.(=) g.52356990G>A Copied from the Exome Variant Server MAPK6_000084 2/12976 2/8586 0/4390 - - - - - - -
?/? c.1964G>A r.(?) p.(Arg655Lys) g.52356995G>A Copied from the Exome Variant Server MAPK6_000085 2/12976 1/8586 1/4390 - - - - - - -
?/? c.2043G>A r.(=) p.(=) g.52357074G>A Copied from the Exome Variant Server MAPK6_000086 4/12976 0/8586 4/4390 - - - - - - -
?/? c.2049C>T r.(=) p.(=) g.52357080C>T Copied from the Exome Variant Server MAPK6_000087 1/12976 1/8586 0/4390 - - - - - - -
?/? c.2060G>A r.(?) p.(Gly687Glu) g.52357091G>A Copied from the Exome Variant Server MAPK6_000088 1/12976 1/8586 0/4390 - - - - - - -
?/? c.2077A>G r.(?) p.(Ile693Val) g.52357108A>G Copied from the Exome Variant Server MAPK6_000089 1/12974 1/8584 0/4390 - - - - - - -
?/? c.2128C>A r.(?) p.(His710Asn) g.52357159C>A Copied from the Exome Variant Server MAPK6_000090 1/12888 1/8528 0/4360 - - - - - - -
?/? c.*30C>T r.(=) p.(=) g.52357227C>T Copied from the Exome Variant Server MAPK6_000091 298/11162 268/7312 30/3850 - - - - - - -
Legend