Unique variants in gene HK1

Information The variants shown are described using the NM_000188.2 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-3026G>T r.(=) p.(=) g.71075678G>T - HK1_000001 rs77682879 0.045 23 516 9628 - - Admin
./. 1 - c.-111_-109del r.(=) p.(=) g.71078593_71078595del - HK1_000002 rs796110820 0.045 23 516 9628 - - Admin
./. 1 - c.-91C>A r.(=) p.(=) g.71078613C>A - HK1_000003 rs114396666 0.012 6 516 2135 - - Admin
./. 1 - c.64-5441C>G r.(=) p.(=) g.71098142C>G - HK1_000004 rs116274613 0.003876 2 516 2005 - - Admin
./. 1 - c.64-5388G>T r.(=) p.(=) g.71098195G>T - HK1_000005 rs906216 0.374 193 516 3551 - - Admin
./. 1 - c.64-5315G>A r.(=) p.(=) g.71098268G>A - HK1_000006 rs115918414 0.007752 4 516 5403 - - Admin
./. 1 - c.64-5288T>A r.(=) p.(=) g.71098295T>A - HK1_000007 rs7912524 0.477 246 516 5154 - - Admin
./. 1 - c.64-5233C>T r.(=) p.(=) g.71098350C>T - HK1_000008 rs558999804 0.001938 1 516 3014 - - Admin
./. 1 - c.64-5232G>A r.(=) p.(=) g.71098351G>A - HK1_000009 rs75743765 0.088 45 510 2916 - - Admin
./. 1 - c.64-5207T>G r.(=) p.(=) g.71098376T>G - HK1_000010 rs10998724 0.069 35 504 2257 - - Admin
./. 1 - c.64-5146_64-5137del r.(=) p.(=) g.71098437_71098446del - HK1_000011 rs755011735 0.069 35 504 2257 - - Admin
./. 1 - c.64-5144_64-5137del r.(=) p.(=) g.71098439_71098446del - HK1_000012 rs755011735 0.069 35 504 2257 - - Admin
./. 1 - c.64-5140_64-5137del r.(=) p.(=) g.71098443_71098446del - HK1_000013 rs755011735 0.069 35 504 2257 - - Admin
./. 1 - c.64-5138_64-5137del r.(=) p.(=) g.71098445_71098446del - HK1_000014 rs755011735 0.069 35 504 2257 - - Admin
./. 1 - c.78C>G r.(=) p.(=) g.71103597C>G - HK1_000015 rs1133189 0.29 149 514 2291 - - Admin
./. 1 - c.198A>T r.(=) p.(=) g.71103717A>T - HK1_000016 rs34410083 0.001938 1 516 6152 - - Admin
./. 1 - c.226+26C>A r.(=) p.(=) g.71103771C>A - HK1_000017 rs74566009 0.003876 2 516 5038 - - Admin
./. 1 - c.226+66T>A r.(=) p.(=) g.71103811T>A - HK1_000018 rs9664217 0.031 16 516 3045 - - Admin
./. 1 - c.226+121_226+122insCCAT r.(=) p.(=) g.71103866_71103867insCCAT - HK1_000019 rs369856623 - - - - - - Admin
./. 1 - c.227-22T>C r.(=) p.(=) g.71119631T>C - HK1_000020 rs148571547 0.001938 1 516 5546 - - Admin
./. 1 - c.376-162C>T r.(=) p.(=) g.71124377C>T - HK1_000021 rs55793716 0.017 9 516 2793 - - Admin
./. 1 - c.480A>G r.(=) p.(=) g.71124643A>G - HK1_000022 rs2228284 0.017 9 516 9163 - - Admin
./. 1 - c.495+88G>T r.(=) p.(=) g.71124746G>T - HK1_000023 rs190810825 0.001938 1 516 7370 - - Admin
./. 1 - c.591+158A>G r.(=) p.(=) g.71128545A>G - HK1_000024 rs12359036 0.119 60 504 1650 - - Admin
./. 1 - c.691+4A>G r.spl? p.? g.71129096A>G - HK1_000025 - 0.001938 1 516 9401 1 - Admin
./. 1 - c.691+13C>T r.(=) p.(=) g.71129105C>T - HK1_000026 rs41279654 0.001938 1 516 9381 - - Admin
./. 1 - c.692-3C>T r.spl? p.? g.71129194C>T - HK1_000027 rs41279656 0.029 15 516 9871 - - Admin
./. 1 - c.828G>A r.(=) p.(=) g.71129333G>A - HK1_000028 rs41279658 0.003876 2 516 8016 - - Admin
./. 1 - c.1031+6T>C r.(=) p.(=) g.71136851T>C - HK1_000029 rs57012387 0.007752 4 516 9473 - - Admin
./. 1 - c.1031+178T>C r.(=) p.(=) g.71137023T>C - HK1_000030 rs151063168 0.001961 1 510 2558 - - Admin
./. 1 - c.1032-98G>T r.(=) p.(=) g.71139520G>T - HK1_000031 rs548320170 0.001938 1 516 7218 - - Admin
./. 1 - c.1227G>A r.(=) p.(=) g.71139813G>A - HK1_000032 rs367932087 0.001938 1 516 9565 - - Admin
./. 1 - c.1265+149A>G r.(=) p.(=) g.71140000A>G - HK1_000033 rs563327653 0.003876 2 516 3812 - - Admin
./. 1 - c.1266-131C>T r.(=) p.(=) g.71142112C>T - HK1_000034 rs12254694 0.012 6 508 1242 - - Admin
./. 1 - c.1266-60G>A r.(=) p.(=) g.71142183G>A - HK1_000035 rs4746846 0.262 135 516 5712 - - Admin
./. 1 - c.1266-13C>T r.(=) p.(=) g.71142230C>T - HK1_000036 rs114482373 0.00969 5 516 8209 - - Admin
./. 1 - c.1443G>A r.(=) p.(=) g.71142420G>A - HK1_000037 rs748235 0.756 390 516 9190 - - Admin
./. 1 - c.1515C>T r.(=) p.(=) g.71142492C>T - HK1_000038 rs140498607 0.00969 5 516 5724 - - Admin
./. 1 - c.1571-18C>T r.(=) p.(=) g.71144071C>T - HK1_000039 rs75829368 0.001938 1 516 7304 - - Admin
./. 1 - c.1680C>T r.(=) p.(=) g.71144198C>T - HK1_000040 rs199870318 0.001938 1 516 9063 - - Admin
./. 1 - c.1719+19A>G r.(=) p.(=) g.71144256A>G - HK1_000041 rs5030915 0.019 10 516 7563 - - Admin
./. 1 - c.1719+26G>A r.(=) p.(=) g.71144263G>A - HK1_000042 rs56299619 0.037 19 516 7131 - - Admin
./. 1 - c.1719+63G>A r.(=) p.(=) g.71144300G>A - HK1_000043 rs371769247 0.007752 4 516 4541 - - Admin
./. 1 - c.1719+83C>T r.(=) p.(=) g.71144320C>T - HK1_000044 rs114798064 0.001938 1 516 3753 - - Admin
./. 1 - c.1719+87G>A r.(=) p.(=) g.71144324G>A - HK1_000045 rs2305196 0.308 159 516 3626 - - Admin
./. 1 - c.1720-132A>G r.(=) p.(=) g.71144420A>G - HK1_000046 rs76454223 0.012 6 516 3668 - - Admin
./. 1 - c.1720-84T>C r.(=) p.(=) g.71144468T>C - HK1_000047 rs113188207 0.003876 2 516 5725 - - Admin
./. 1 - c.1720-79G>T r.(=) p.(=) g.71144473G>T - HK1_000048 rs150976961 0.007752 4 516 5992 - - Admin
./. 1 - c.1755C>T r.(=) p.(=) g.71144587C>T - HK1_000049 - 0.001938 1 516 8953 1 - Admin
./. 1 - c.1839+18G>A r.(=) p.(=) g.71144689G>A - HK1_000050 - 0.001938 1 516 4104 1 - Admin
./. 1 - c.1839+31G>A r.(=) p.(=) g.71144702G>A - HK1_000051 rs749105 0.646 332 514 3567 - - Admin
./. 1 - c.1968C>T r.(=) p.(=) g.71148985C>T - HK1_000052 rs756025439 0.003876 2 516 6475 - - Admin
./. 1 - c.2035+165_2035+166insTC r.(=) p.(=) g.71149217_71149218insTC - HK1_000053 rs750220716 - - - - - - Admin
./. 1 - c.2035+169C>G r.(=) p.(=) g.71149221C>G - HK1_000054 rs1411925932 0.006881 3 436 3897 3 - Admin
./. 1 - c.2035+170T>G r.(=) p.(=) g.71149222T>G - HK1_000055 rs1403348617 0.009346 4 428 3883 4 - Admin
./. 1 - c.2035+173C>G r.(=) p.(=) g.71149225C>G - HK1_000056 rs771951288 0.076 23 302 3331 23 - Admin
./. 1 - c.2035+180A>G r.(=) p.(=) g.71149232A>G - HK1_000057 rs1214394738 0.092 26 282 2865 22 2 Admin
./. 1 - c.2035+183T>G r.(=) p.(=) g.71149235T>G - HK1_000058 rs1285175856 0.124 39 314 2530 37 1 Admin
./. 1 - c.2035+184G>T r.(=) p.(=) g.71149236G>T - HK1_000059 rs539860255 0.001953 1 512 3035 - - Admin
./. 1 - c.2040C>T r.(=) p.(=) g.71151885C>T - HK1_000060 rs2229387 0.041 21 516 6114 - - Admin
./. 1 - c.2159A>G r.(?) p.(Asp720Gly) g.71152004A>G - HK1_000061 rs369170269 0.001938 1 516 9391 - - Admin
./. 1 - c.2219+27T>C r.(=) p.(=) g.71152091T>C - HK1_000062 rs2278745 0.56 289 516 9510 - - Admin
./. 1 - c.2220-76G>A r.(=) p.(=) g.71154630G>A - HK1_000063 rs112878099 0.001969 1 508 1984 - - Admin
./. 1 - c.2220-35C>G r.(=) p.(=) g.71154671C>G - HK1_000064 rs138069623 0.001938 1 516 3227 - - Admin
./. 1 - c.2376-83C>T r.(=) p.(=) g.71158268C>T - HK1_000065 rs1227938 0.328 169 516 7338 - - Admin
./. 1 - c.2376-75G>A r.(=) p.(=) g.71158276G>A - HK1_000066 rs10998759 0.023 12 516 7515 - - Admin
./. 1 - c.2538C>T r.(=) p.(=) g.71158513C>T - HK1_000067 rs10998760 0.016 8 516 9409 - - Admin
./. 1 - c.2583C>T r.(=) p.(=) g.71158558C>T - HK1_000068 rs145610109 0.001938 1 516 9098 - - Admin
./. 1 - c.2609+65_2609+66del r.(=) p.(=) g.71158649_71158650del - HK1_000069 rs540207556 0.001938 1 516 9098 - - Admin
./. 1 - c.2609+78C>T r.(=) p.(=) g.71158662C>T - HK1_000070 rs138109637 0.005814 3 516 5011 - - Admin
./. 1 - c.2609+124C>T r.(=) p.(=) g.71158708C>T - HK1_000071 rs563005350 0.001992 1 502 3156 - - Admin
./. 1 - c.2610-119C>T r.(=) p.(=) g.71160628C>T - HK1_000072 rs146693766 0.001938 1 516 2830 - - Admin
./. 1 - c.2610-88del r.(=) p.(=) g.71160659del - HK1_000073 rs541953079 0.001938 1 516 2830 - - Admin
./. 1 - c.2610-48C>T r.(=) p.(=) g.71160699C>T - HK1_000074 rs17489948 0.043 22 516 6401 - - Admin
./. 1 - c.2610-13T>A r.(=) p.(=) g.71160734T>A - HK1_000075 rs140249926 0.007752 4 516 8084 - - Admin
./. 1 - c.2613C>T r.(=) p.(=) g.71160750C>T - HK1_000076 rs34616021 0.016 8 516 8667 - - Admin
./. 1 - c.2691C>T r.(=) p.(=) g.71160828C>T - HK1_000077 rs14006 0.052 27 516 8531 - - Admin
./. 1 - c.2724C>T r.(=) p.(=) g.71160861C>T - HK1_000078 rs375284444 0.001938 1 516 6055 - - Admin
./. 1 - c.*6C>T r.(=) p.(=) g.71160897C>T - HK1_000079 rs13139 0.043 22 516 3787 - - Admin
./. 1 - c.*390T>C r.(=) p.(=) g.71161281T>C - HK1_000080 rs12216 0.052 27 516 9752 - - Admin
./. 1 - c.*424G>A r.(=) p.(=) g.71161315G>A - HK1_000081 rs41279664 0.007752 4 516 9493 - - Admin
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