Full data view for gene UHMK1

Information The variants shown are described using the NM_175866.4 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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.-40G>A r.(=) p.(=) g.162467751G>A Copied from the Exome Variant Server UHMK1_000001 2/11694 2/7922 0/3772 - - - - - - -
?/? c.-15C>T r.(=) p.(=) g.162467776C>T Copied from the Exome Variant Server UHMK1_000002 39/12426 36/8330 3/4096 - - - - - - -
?/? c.6G>A r.(=) p.(=) g.162467796G>A Copied from the Exome Variant Server UHMK1_000003 103/12552 1/8388 102/4164 - - - - - - -
?/? c.8G>T r.(?) p.(Gly3Val) g.162467798G>T Copied from the Exome Variant Server UHMK1_000004 1/12576 0/8404 1/4172 - - - - - - -
?/? c.53C>T r.(?) p.(Ala18Val) g.162467843C>T Copied from the Exome Variant Server UHMK1_000005 2/12674 2/8432 0/4242 - - - - - - -
?/? c.73G>A r.(?) p.(Val25Ile) g.162467863G>A Copied from the Exome Variant Server UHMK1_000006 1/12624 1/8380 0/4244 - - - - - - -
?/? c.145del r.(?) p.(Gly51Alafs*40) g.162467935del Copied from the Exome Variant Server UHMK1_000007 75/12400 46/8200 29/4200 - - - - - - -
?/? c.173C>A r.(?) p.(Pro58Gln) g.162467963C>A Copied from the Exome Variant Server UHMK1_000008 3/12978 3/8588 0/4390 - - - - - - -
?/? c.174G>T r.(=) p.(=) g.162467964G>T Copied from the Exome Variant Server UHMK1_000009 7/12982 5/8590 2/4392 - - - - - - -
?/? c.201T>A r.(=) p.(=) g.162467991T>A Copied from the Exome Variant Server UHMK1_000010 1/13002 1/8598 0/4404 - - - - - - -
?/? c.356C>T r.(?) p.(Ser119Leu) g.162469832C>T Copied from the Exome Variant Server UHMK1_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.377G>A r.(?) p.(Ser126Asn) g.162469853G>A Copied from the Exome Variant Server UHMK1_000012 7/13006 7/8600 0/4406 - - - - - - -
?/? c.385G>C r.(?) p.(Gly129Arg) g.162469861G>C Copied from the Exome Variant Server UHMK1_000013 6/13006 5/8600 1/4406 - - - - - - -
?/? c.438T>C r.(=) p.(=) g.162469914T>C Copied from the Exome Variant Server UHMK1_000014 48/13006 0/8600 48/4406 - - - - - - -
?/? c.485G>C r.(?) p.(Arg162Pro) g.162469961G>C Copied from the Exome Variant Server UHMK1_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.557A>G r.(?) p.(Asn186Ser) g.162470033A>G Copied from the Exome Variant Server UHMK1_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.561+28G>A r.(=) p.(=) g.162470065G>A Copied from the Exome Variant Server UHMK1_000017 7/13004 0/8600 7/4404 - - - - - - -
?/? c.571T>C r.(?) p.(Tyr191His) g.162470712T>C Copied from the Exome Variant Server UHMK1_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.585C>T r.(=) p.(=) g.162470726C>T Copied from the Exome Variant Server UHMK1_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.588G>T r.(=) p.(=) g.162470729G>T Copied from the Exome Variant Server UHMK1_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.598C>T r.(?) p.(Pro200Ser) g.162470739C>T Copied from the Exome Variant Server UHMK1_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.657T>C r.(=) p.(=) g.162470798T>C Copied from the Exome Variant Server UHMK1_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.691A>G r.(?) p.(Ile231Val) g.162470832A>G Copied from the Exome Variant Server UHMK1_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.742C>A r.(?) p.(Gln248Lys) g.162470883C>A Copied from the Exome Variant Server UHMK1_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? c.753+9C>T r.(=) p.(=) g.162470903C>T Copied from the Exome Variant Server UHMK1_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.754-44T>C r.(=) p.(=) g.162473500T>C Copied from the Exome Variant Server UHMK1_000032 74/13004 68/8600 6/4404 - - - - - - -
?/? c.754-15T>C r.(=) p.(=) g.162473529T>C Copied from the Exome Variant Server UHMK1_000034 43/13006 0/8600 43/4406 - - - - - - -
?/? c.754-10_754-9insT r.(=) p.(=) g.162473534_162473535insT Copied from the Exome Variant Server UHMK1_000036 1/12520 1/8254 0/4266 - - - - - - -
?/? c.754-9T>A r.(=) p.(=) g.162473535T>A Copied from the Exome Variant Server UHMK1_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.754-1G>A r.spl? p.? g.162473543G>A Copied from the Exome Variant Server UHMK1_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.777T>C r.(=) p.(=) g.162473567T>C Copied from the Exome Variant Server UHMK1_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.811G>A r.(?) p.(Ala271Thr) g.162473601G>A Copied from the Exome Variant Server UHMK1_000025 2/13006 1/8600 1/4406 - - - - - - -
?/? c.848+12G>A r.(=) p.(=) g.162473650G>A Copied from the Exome Variant Server UHMK1_000027 2/13006 0/8600 2/4406 - - - - - - -
?/? c.848+42T>G r.(=) p.(=) g.162473680T>G Copied from the Exome Variant Server UHMK1_000029 20/13006 0/8600 20/4406 - - - - - - -
?/? c.848+50A>G r.(=) p.(=) g.162473688A>G Copied from the Exome Variant Server UHMK1_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.849-7G>A r.(=) p.(=) g.162482283G>A Copied from the Exome Variant Server UHMK1_000033 6/13006 5/8600 1/4406 - - - - - - -
?/? c.925G>C r.(?) p.(Ala309Pro) g.162482366G>C Copied from the Exome Variant Server UHMK1_000035 30/13006 24/8600 6/4406 - - - - - - -
?/? c.926-50A>G r.(=) p.(=) g.162482465A>G Copied from the Exome Variant Server UHMK1_000037 5/13006 0/8600 5/4406 - - - - - - -
?/? c.926-43_926-42insG r.(=) p.(=) g.162482472_162482473insG Copied from the Exome Variant Server UHMK1_000039 2/12520 2/8254 0/4266 - - - - - - -
?/? c.949A>C r.(?) p.(Met317Leu) g.162482538A>C Copied from the Exome Variant Server UHMK1_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.992A>G r.(?) p.(Asp331Gly) g.162482581A>G Copied from the Exome Variant Server UHMK1_000041 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1014G>A r.(=) p.(=) g.162482603G>A Copied from the Exome Variant Server UHMK1_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1024+1G>T r.spl? p.? g.162482614G>T Copied from the Exome Variant Server UHMK1_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1025-47_1025-44del r.(=) p.(=) g.162487845_162487848del Copied from the Exome Variant Server UHMK1_000044 27/12506 17/8244 10/4262 - - - - - - -
?/? c.1025-38A>G r.(=) p.(=) g.162487854A>G Copied from the Exome Variant Server UHMK1_000045 10/12998 10/8592 0/4406 - - - - - - -
?/? c.1025-14G>A r.(=) p.(=) g.162487878G>A Copied from the Exome Variant Server UHMK1_000046 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1039G>T r.(?) p.(Val347Leu) g.162487906G>T Copied from the Exome Variant Server UHMK1_000047 9/13004 0/8598 9/4406 - - - - - - -
?/? c.1047G>A r.(=) p.(=) g.162487914G>A Copied from the Exome Variant Server UHMK1_000048 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1106G>C r.(?) p.(Arg369Thr) g.162487973G>C Copied from the Exome Variant Server UHMK1_000049 1/12998 1/8592 0/4406 - - - - - - -
?/? c.1113+21T>C r.(=) p.(=) g.162488001T>C Copied from the Exome Variant Server UHMK1_000050 36/13002 0/8596 36/4406 - - - - - - -
?/? c.1113+29T>G r.(=) p.(=) g.162488009T>G Copied from the Exome Variant Server UHMK1_000051 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1114-23del r.(=) p.(=) g.162492171del Copied from the Exome Variant Server UHMK1_000052 3/12520 2/8254 1/4266 - - - - - - -
?/? c.1242G>C r.(=) p.(=) g.162492322G>C Copied from the Exome Variant Server UHMK1_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*27T>C r.(=) p.(=) g.162492367T>C Copied from the Exome Variant Server UHMK1_000054 6/13006 6/8600 0/4406 - - - - - - -
?/? c.*38C>G r.(=) p.(=) g.162492378C>G Copied from the Exome Variant Server UHMK1_000055 1/13006 1/8600 0/4406 - - - - - - -
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