Full data view for gene RUNX1

Information The variants shown are described using the NM_001001890.2 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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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.-5916del r.(=) p.(=) g.36265325del Copied from the Exome Variant Server RUNX1_000071 1648/11906 1131/7946 517/3960 - - - - - - -
?/? c.-5916dup r.(=) p.(=) g.36265325dup Copied from the Exome Variant Server RUNX1_000070 892/11906 625/7946 267/3960 - - - - - - -
?/? c.-5916_-5915del r.(=) p.(=) g.36265324_36265325del Copied from the Exome Variant Server RUNX1_000069 162/11906 99/7946 63/3960 - - - - - - -
?/? c.-5885A>G r.(=) p.(=) g.36265294T>C Copied from the Exome Variant Server RUNX1_000068 1/12920 1/8534 0/4386 - - - - - - -
?/? c.-5863C>G r.(=) p.(=) g.36265272G>C Copied from the Exome Variant Server RUNX1_000067 1/12946 1/8552 0/4394 - - - - - - -
?/? c.-5863_-5862del r.(=) p.(=) g.36265271_36265272del Copied from the Exome Variant Server RUNX1_000066 2/12452 0/8204 2/4248 - - - - - - -
?/? c.-5828_-5826del r.(=) p.(=) g.36265235_36265237del Copied from the Exome Variant Server RUNX1_000065 3/12474 0/8220 3/4254 - - - - - - -
?/? c.-5812G>A r.(=) p.(=) g.36265221C>T Copied from the Exome Variant Server RUNX1_000064 1/12954 1/8562 0/4392 - - - - - - -
?/? c.-5783A>G r.(=) p.(=) g.36265192T>C Copied from the Exome Variant Server RUNX1_000063 14/12934 13/8540 1/4394 - - - - - - -
?/? c.-5782_-5779del r.(=) p.(=) g.36265188_36265191del Copied from the Exome Variant Server RUNX1_000062 85/12440 58/8190 27/4250 - - - - - - -
?/? c.-36C>T r.(=) p.(=) g.36259445G>A Copied from the Exome Variant Server RUNX1_000061 6/10622 0/7088 6/3534 - - - - - - -
?/? c.-25G>A r.(=) p.(=) g.36259434C>T Copied from the Exome Variant Server RUNX1_000060 1/10968 1/7312 0/3656 - - - - - - -
?/? c.-21T>C r.(=) p.(=) g.36259430A>G Copied from the Exome Variant Server RUNX1_000059 1/11022 1/7354 0/3668 - - - - - - -
?/? c.-5T>C r.(=) p.(=) g.36259414A>G Copied from the Exome Variant Server RUNX1_000058 1/11488 1/7686 0/3802 - - - - - - -
?/? c.63C>T r.(=) p.(=) g.36259347G>A Copied from the Exome Variant Server RUNX1_000057 14/12740 13/8418 1/4322 - - - - - - -
?/? c.74T>A r.(?) p.(Met25Lys) g.36259336A>T Copied from the Exome Variant Server RUNX1_000056 6/12794 6/8456 0/4338 - - - - - - -
?/? c.86T>C r.(?) p.(Leu29Ser) g.36259324A>G Copied from the Exome Variant Server RUNX1_000055 136/12844 124/8480 12/4364 - - - - - - -
?/? c.99C>T r.(=) p.(=) g.36259311G>A Copied from the Exome Variant Server RUNX1_000054 1/12832 1/8470 0/4362 - - - - - - -
?/? c.102G>A r.(=) p.(=) g.36259308C>T Copied from the Exome Variant Server RUNX1_000053 53/12864 1/8484 52/4380 - - - - - - -
?/? c.177G>A r.(=) p.(=) g.36259233C>T Copied from the Exome Variant Server RUNX1_000052 1/13002 1/8598 0/4404 - - - - - - -
?/? c.222G>T r.(=) p.(=) g.36259188C>A Copied from the Exome Variant Server RUNX1_000051 31/13006 0/8600 31/4406 - - - - - - -
?/? c.270+15A>G r.(=) p.(=) g.36259125T>C Copied from the Exome Variant Server RUNX1_000050 53/13002 47/8598 6/4404 - - - - - - -
?/? c.270+32G>A r.(=) p.(=) g.36259108C>T Copied from the Exome Variant Server RUNX1_000049 1/13000 0/8600 1/4400 - - - - - - -
?/? c.270+35_270+36insCG r.(=) p.(=) g.36259104_36259105insCG Copied from the Exome Variant Server RUNX1_000048 1/12482 1/8238 0/4244 - - - - - - -
?/? c.270+42G>T r.(=) p.(=) g.36259098C>A Copied from the Exome Variant Server RUNX1_000047 2/12990 2/8592 0/4398 - - - - - - -
?/? c.270+36_270+45del r.(=) p.(=) g.36259095_36259104del Copied from the Exome Variant Server RUNX1_000046 16/12460 9/8220 7/4240 - - - - - - -
?/? c.270+48G>A r.(=) p.(=) g.36259092C>T Copied from the Exome Variant Server RUNX1_000045 3/12980 0/8586 3/4394 - - - - - - -
?/? c.271-42A>G r.(=) p.(=) g.36253052T>C Copied from the Exome Variant Server RUNX1_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.271-33G>C r.(=) p.(=) g.36253043C>G Copied from the Exome Variant Server RUNX1_000043 4/13006 0/8600 4/4406 - - - - - - -
?/? c.286G>C r.(?) p.(Asp96His) g.36252995C>G Copied from the Exome Variant Server RUNX1_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.411C>T r.(=) p.(=) g.36252870G>A Copied from the Exome Variant Server RUNX1_000041 2/13006 2/8600 0/4406 - - - - - - -
?/? c.427+18A>G r.(=) p.(=) g.36252836T>C Copied from the Exome Variant Server RUNX1_000040 2/13006 1/8600 1/4406 - - - - - - -
?/? c.427+43C>T r.(=) p.(=) g.36252811G>A Copied from the Exome Variant Server RUNX1_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.428-44G>A r.(=) p.(=) g.36231919C>T Copied from the Exome Variant Server RUNX1_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.428-37A>G r.(=) p.(=) g.36231912T>C Copied from the Exome Variant Server RUNX1_000037 2/13006 1/8600 1/4406 - - - - - - -
?/? c.532+8C>T r.(=) p.(=) g.36231763G>A Copied from the Exome Variant Server RUNX1_000036 7/13006 7/8600 0/4406 - - - - - - -
?/? c.532+18G>C r.(=) p.(=) g.36231753C>G Copied from the Exome Variant Server RUNX1_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.532+3037C>T r.(=) p.(=) g.36228734G>A Copied from the Exome Variant Server RUNX1_000034 1/5734 1/3982 0/1752 - - - - - - -
?/? c.532+3071T>G r.(=) p.(=) g.36228700A>C Copied from the Exome Variant Server RUNX1_000033 10/5734 10/3982 0/1752 - - - - - - -
?/? c.532+3100G>T r.(=) p.(=) g.36228671C>A Copied from the Exome Variant Server RUNX1_000032 1/5734 1/3982 0/1752 - - - - - - -
?/? c.532+3108C>T r.(=) p.(=) g.36228663G>A Copied from the Exome Variant Server RUNX1_000031 1/5734 1/3982 0/1752 - - - - - - -
?/? c.533-25C>T r.(=) p.(=) g.36206923G>A Copied from the Exome Variant Server RUNX1_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.533-19_533-15del r.(=) p.(=) g.36206913_36206917del Copied from the Exome Variant Server RUNX1_000029 3/12518 0/8254 3/4264 - - - - - - -
?/? c.549A>G r.(=) p.(=) g.36206882T>C Copied from the Exome Variant Server RUNX1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.567C>T r.(=) p.(=) g.36206864G>A Copied from the Exome Variant Server RUNX1_000027 3/13006 1/8600 2/4406 - - - - - - -
?/? c.573C>T r.(=) p.(=) g.36206858G>A Copied from the Exome Variant Server RUNX1_000026 6/13006 3/8600 3/4406 - - - - - - -
?/? c.578C>A r.(?) p.(Ser193Tyr) g.36206853G>T Copied from the Exome Variant Server RUNX1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.614G>A r.(?) p.(Arg205Gln) g.36206817C>T Copied from the Exome Variant Server RUNX1_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.617G>A r.(?) p.(Arg206His) g.36206814C>T Copied from the Exome Variant Server RUNX1_000023 3/13006 0/8600 3/4406 - - - - - - -
?/? c.706C>T r.(?) p.(Pro236Ser) g.36206725G>A Copied from the Exome Variant Server RUNX1_000022 2/13006 2/8600 0/4406 - - - - - - -
?/? c.724+28G>A r.(=) p.(=) g.36206679C>T Copied from the Exome Variant Server RUNX1_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.724+12631del r.(=) p.(=) g.36194076del Copied from the Exome Variant Server RUNX1_000020 6/10096 2/6868 4/3228 - - - - - - -
?/? c.724+12651C>T r.(=) p.(=) g.36194056G>A Copied from the Exome Variant Server RUNX1_000019 3/4566 3/3182 0/1384 - - - - - - -
?/? c.724+12666T>C r.(=) p.(=) g.36194041A>G Copied from the Exome Variant Server RUNX1_000018 28/10256 3/7128 25/3128 - - - - - - -
?/? c.724+12784G>C r.(=) p.(=) g.36193923C>G Copied from the Exome Variant Server RUNX1_000017 4/10270 0/7140 4/3130 - - - - - - -
?/? c.724+12791C>A r.(=) p.(=) g.36193916G>T Copied from the Exome Variant Server RUNX1_000016 1/10254 0/7124 1/3130 - - - - - - -
?/? c.725-30C>T r.(=) p.(=) g.36171789G>A Copied from the Exome Variant Server RUNX1_000015 3/13006 3/8600 0/4406 - - - - - - -
?/? c.741A>T r.(?) p.(Gln247His) g.36171743T>A Copied from the Exome Variant Server RUNX1_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.762C>T r.(=) p.(=) g.36171722G>A Copied from the Exome Variant Server RUNX1_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.766C>A r.(?) p.(Gln256Lys) g.36171718G>T Copied from the Exome Variant Server RUNX1_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.791T>C r.(?) p.(Ile264Thr) g.36171693A>G Copied from the Exome Variant Server RUNX1_000011 2/13006 0/8600 2/4406 - - - - - - -
?/? c.801T>C r.(=) p.(=) g.36171683A>G Copied from the Exome Variant Server RUNX1_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.802_804del r.(?) p.(Ser268del) g.36171680_36171682del Copied from the Exome Variant Server RUNX1_000009 236/12518 172/8254 64/4264 - - - - - - -
?/? c.836G>A r.(?) p.(Arg279His) g.36171648C>T Copied from the Exome Variant Server RUNX1_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.846C>T r.(=) p.(=) g.36171638G>A Copied from the Exome Variant Server RUNX1_000007 162/13006 0/8600 162/4406 - - - - - - -
?/? c.900G>C r.(=) p.(=) g.36164894C>G Copied from the Exome Variant Server RUNX1_000006 1/12840 0/8480 1/4360 - - - - - - -
?/? c.903A>G r.(=) p.(=) g.36164891T>C Copied from the Exome Variant Server RUNX1_000005 1/12850 0/8492 1/4358 - - - - - - -
?/? c.960G>A r.(?) p.(Met320Ile) g.36164834C>T Copied from the Exome Variant Server RUNX1_000004 1/12976 1/8580 0/4396 - - - - - - -
?/? c.988C>T r.(?) p.(Pro330Ser) g.36164806G>A Copied from the Exome Variant Server RUNX1_000003 1/12980 1/8584 0/4396 - - - - - - -
?/? c.1005G>C r.(=) p.(=) g.36164789C>G Copied from the Exome Variant Server RUNX1_000002 10/12972 0/8586 10/4386 - - - - - - -
?/? c.1308C>G r.(=) p.(=) g.36164486G>C Copied from the Exome Variant Server RUNX1_000001 363/11858 61/7968 302/3890 - - - - - - -
Legend