Full data view for gene KHNYN

Information The variants shown are described using the NM_015299.2 transcript reference sequence.

129 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.-17-10del r.(=) p.(=) g.24899910del Copied from the Exome Variant Server KHNYN_000001 2/12090 1/7988 1/4102 - - - - - - -
?/? c.-12G>A r.(=) p.(=) g.24899925G>A Copied from the Exome Variant Server KHNYN_000002 2/12800 0/8476 2/4324 - - - - - - -
?/? c.16G>A r.(?) p.(Ala6Thr) g.24899952G>A Copied from the Exome Variant Server KHNYN_000003 1/12960 0/8572 1/4388 - - - - - - -
?/? c.33A>C r.(=) p.(=) g.24899969A>C Copied from the Exome Variant Server KHNYN_000004 2/12998 2/8596 0/4402 - - - - - - -
?/? c.100A>C r.(?) p.(Ile34Leu) g.24900036A>C Copied from the Exome Variant Server KHNYN_000005 1/13004 0/8598 1/4406 - - - - - - -
?/? c.129G>A r.(=) p.(=) g.24900065G>A Copied from the Exome Variant Server KHNYN_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.147del r.(?) p.(His51Thrfs*20) g.24900083del Copied from the Exome Variant Server KHNYN_000007 1/12518 1/8254 0/4264 - - - - - - -
?/? c.153C>T r.(=) p.(=) g.24900089C>T Copied from the Exome Variant Server KHNYN_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.179A>G r.(?) p.(Lys60Arg) g.24900115A>G Copied from the Exome Variant Server KHNYN_000009 3/13006 1/8600 2/4406 - - - - - - -
?/? c.195A>G r.(=) p.(=) g.24900131A>G Copied from the Exome Variant Server KHNYN_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.201+44T>C r.(=) p.(=) g.24900181T>C Copied from the Exome Variant Server KHNYN_000011 2/13004 2/8600 0/4404 - - - - - - -
?/? c.202-32A>G r.(=) p.(=) g.24900637A>G Copied from the Exome Variant Server KHNYN_000012 11/12998 0/8592 11/4406 - - - - - - -
?/? c.202-20C>T r.(=) p.(=) g.24900649C>T Copied from the Exome Variant Server KHNYN_000013 1/12996 0/8592 1/4404 - - - - - - -
?/? c.262C>G r.(?) p.(Leu88Val) g.24900729C>G Copied from the Exome Variant Server KHNYN_000014 2/13006 2/8600 0/4406 - - - - - - -
?/? c.310G>A r.(?) p.(Ala104Thr) g.24900777G>A Copied from the Exome Variant Server KHNYN_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.318C>T r.(=) p.(=) g.24900785C>T Copied from the Exome Variant Server KHNYN_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.370C>G r.(?) p.(Leu124Val) g.24900837C>G Copied from the Exome Variant Server KHNYN_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.400C>T r.(?) p.(Arg134Trp) g.24900867C>T Copied from the Exome Variant Server KHNYN_000018 2/13006 2/8600 0/4406 - - - - - - -
?/? c.401G>T r.(?) p.(Arg134Leu) g.24900868G>T Copied from the Exome Variant Server KHNYN_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.435C>T r.(=) p.(=) g.24900902C>T Copied from the Exome Variant Server KHNYN_000020 22/13006 1/8600 21/4406 - - - - - - -
?/? c.498C>G r.(=) p.(=) g.24900965C>G Copied from the Exome Variant Server KHNYN_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.499C>A r.(?) p.(Leu167Met) g.24900966C>A Copied from the Exome Variant Server KHNYN_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.507G>T r.(?) p.(Gln169His) g.24900974G>T Copied from the Exome Variant Server KHNYN_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.516G>A r.(=) p.(=) g.24900983G>A Copied from the Exome Variant Server KHNYN_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.533C>A r.(?) p.(Ala178Asp) g.24901000C>A Copied from the Exome Variant Server KHNYN_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.591G>C r.(=) p.(=) g.24901058G>C Copied from the Exome Variant Server KHNYN_000026 1/12998 1/8596 0/4402 - - - - - - -
?/? c.606G>A r.(=) p.(=) g.24901073G>A Copied from the Exome Variant Server KHNYN_000027 1/12998 1/8594 0/4404 - - - - - - -
?/? c.634C>T r.(?) p.(Arg212Trp) g.24901101C>T Copied from the Exome Variant Server KHNYN_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.635G>A r.(?) p.(Arg212Gln) g.24901102G>A Copied from the Exome Variant Server KHNYN_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.681C>T r.(=) p.(=) g.24901148C>T Copied from the Exome Variant Server KHNYN_000030 40/13006 36/8600 4/4406 - - - - - - -
?/? c.700T>A r.(?) p.(Ser234Thr) g.24901167T>A Copied from the Exome Variant Server KHNYN_000031 3/13006 0/8600 3/4406 - - - - - - -
?/? c.713G>A r.(?) p.(Gly238Glu) g.24901180G>A Copied from the Exome Variant Server KHNYN_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.729A>G r.(=) p.(=) g.24901196A>G Copied from the Exome Variant Server KHNYN_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.752A>G r.(?) p.(Asp251Gly) g.24901219A>G Copied from the Exome Variant Server KHNYN_000034 4/13006 4/8600 0/4406 - - - - - - -
?/? c.761C>G r.(?) p.(Ala254Gly) g.24901228C>G Copied from the Exome Variant Server KHNYN_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.782A>C r.(?) p.(Lys261Thr) g.24901249A>C Copied from the Exome Variant Server KHNYN_000036 5234/13006 4661/8600 573/4406 - - - - - - -
?/? c.809G>T r.(?) p.(Trp270Leu) g.24901276G>T Copied from the Exome Variant Server KHNYN_000037 12473/13006 8335/8600 4138/4406 - - - - - - -
?/? c.825G>A r.(=) p.(=) g.24901292G>A Copied from the Exome Variant Server KHNYN_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.827C>T r.(?) p.(Pro276Leu) g.24901294C>T Copied from the Exome Variant Server KHNYN_000039 2/13006 2/8600 0/4406 - - - - - - -
?/? c.900A>G r.(=) p.(=) g.24901367A>G Copied from the Exome Variant Server KHNYN_000040 2/13006 2/8600 0/4406 - - - - - - -
?/? c.901C>T r.(?) p.(Pro301Ser) g.24901368C>T Copied from the Exome Variant Server KHNYN_000041 4/13006 0/8600 4/4406 - - - - - - -
?/? c.966C>T r.(=) p.(=) g.24901433C>T Copied from the Exome Variant Server KHNYN_000042 1470/13006 1147/8600 323/4406 - - - - - - -
?/? c.995G>A r.(?) p.(Cys332Tyr) g.24901462G>A Copied from the Exome Variant Server KHNYN_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1006G>C r.(?) p.(Ala336Pro) g.24901473G>C Copied from the Exome Variant Server KHNYN_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1009C>G r.(?) p.(Gln337Glu) g.24901476C>G Copied from the Exome Variant Server KHNYN_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1036C>T r.(?) p.(Arg346Trp) g.24901503C>T Copied from the Exome Variant Server KHNYN_000046 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1079C>T r.(?) p.(Pro360Leu) g.24901546C>T Copied from the Exome Variant Server KHNYN_000047 10/13004 2/8598 8/4406 - - - - - - -
?/? c.1118G>C r.(?) p.(Arg373Pro) g.24901585G>C Copied from the Exome Variant Server KHNYN_000048 1/12972 1/8578 0/4394 - - - - - - -
?/? c.1128C>T r.(=) p.(=) g.24901595C>T Copied from the Exome Variant Server KHNYN_000049 1/12958 0/8570 1/4388 - - - - - - -
?/? c.1143C>T r.(=) p.(=) g.24901610C>T Copied from the Exome Variant Server KHNYN_000050 3/12936 0/8548 3/4388 - - - - - - -
?/? c.1167G>T r.(?) p.(Gln389His) g.24901634G>T Copied from the Exome Variant Server KHNYN_000051 2/12936 2/8546 0/4390 - - - - - - -
?/? c.1191G>A r.(=) p.(=) g.24901658G>A Copied from the Exome Variant Server KHNYN_000052 7/12960 7/8566 0/4394 - - - - - - -
?/? c.1205_1207del r.(?) p.(Gly403del) g.24901672_24901674del Copied from the Exome Variant Server KHNYN_000053 1/12448 1/8208 0/4240 - - - - - - -
?/? c.1213C>T r.(?) p.(Arg405*) g.24901680C>T Copied from the Exome Variant Server KHNYN_000054 6/12984 6/8584 0/4400 - - - - - - -
?/? c.1216G>A r.(?) p.(Gly406Arg) g.24901683G>A Copied from the Exome Variant Server KHNYN_000055 1/12990 0/8590 1/4400 - - - - - - -
?/? c.1278G>A r.(=) p.(=) g.24901745G>A Copied from the Exome Variant Server KHNYN_000056 11/12998 11/8596 0/4402 - - - - - - -
?/? c.1308C>T r.(=) p.(=) g.24901775C>T Copied from the Exome Variant Server KHNYN_000057 198/13004 180/8600 18/4404 - - - - - - -
?/? c.1312C>T r.(?) p.(Arg438Cys) g.24901779C>T Copied from the Exome Variant Server KHNYN_000058 2/13000 0/8598 2/4402 - - - - - - -
?/? c.1329C>T r.(=) p.(=) g.24901796C>T Copied from the Exome Variant Server KHNYN_000059 3/13000 3/8596 0/4404 - - - - - - -
?/? c.1349+8C>T r.(=) p.(=) g.24901824C>T Copied from the Exome Variant Server KHNYN_000060 516/13006 453/8600 63/4406 - - - - - - -
?/? c.1349+24G>A r.(=) p.(=) g.24901840G>A Copied from the Exome Variant Server KHNYN_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1349+28A>G r.(=) p.(=) g.24901844A>G Copied from the Exome Variant Server KHNYN_000062 8523/13006 6346/8600 2177/4406 - - - - - - -
?/? c.1350-49G>A r.(=) p.(=) g.24901879G>A Copied from the Exome Variant Server KHNYN_000063 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1350-30C>A r.(=) p.(=) g.24901898C>A Copied from the Exome Variant Server KHNYN_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1350-18G>A r.(=) p.(=) g.24901910G>A Copied from the Exome Variant Server KHNYN_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1454G>A r.(?) p.(Arg485His) g.24902032G>A Copied from the Exome Variant Server KHNYN_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1472A>G r.(?) p.(Lys491Arg) g.24902050A>G Copied from the Exome Variant Server KHNYN_000067 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1480+12C>G r.(=) p.(=) g.24902070C>G Copied from the Exome Variant Server KHNYN_000070 70/13006 0/8600 70/4406 - - - - - - -
?/? c.1480+32del r.(=) p.(=) g.24902090del Copied from the Exome Variant Server KHNYN_000072 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1480+35G>A r.(=) p.(=) g.24902093G>A Copied from the Exome Variant Server KHNYN_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1480+41G>A r.(=) p.(=) g.24902099G>A Copied from the Exome Variant Server KHNYN_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1481-3T>C r.spl? p.? g.24902139T>C Copied from the Exome Variant Server KHNYN_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1498A>C r.(?) p.(Lys500Gln) g.24902159A>C Copied from the Exome Variant Server KHNYN_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1615A>G r.(?) p.(Ile539Val) g.24905315A>G Copied from the Exome Variant Server KHNYN_000074 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1647G>A r.(=) p.(=) g.24905347G>A Copied from the Exome Variant Server KHNYN_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1662G>A r.(=) p.(=) g.24905362G>A Copied from the Exome Variant Server KHNYN_000076 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1685+10C>G r.(=) p.(=) g.24905395C>G Copied from the Exome Variant Server KHNYN_000077 32/13006 31/8600 1/4406 - - - - - - -
?/? c.1685+17G>A r.(=) p.(=) g.24905402G>A Copied from the Exome Variant Server KHNYN_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1685+25C>A r.(=) p.(=) g.24905410C>A Copied from the Exome Variant Server KHNYN_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1686-46G>A r.(=) p.(=) g.24905548G>A Copied from the Exome Variant Server KHNYN_000080 9842/13006 7778/8600 2064/4406 - - - - - - -
?/? c.1686-34C>A r.(=) p.(=) g.24905560C>A Copied from the Exome Variant Server KHNYN_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1686C>T r.(=) p.(=) g.24905594C>T Copied from the Exome Variant Server KHNYN_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1731T>C r.(=) p.(=) g.24905639T>C Copied from the Exome Variant Server KHNYN_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1738C>T r.(=) p.(=) g.24905646C>T Copied from the Exome Variant Server KHNYN_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1750G>A r.(?) p.(Gly584Ser) g.24905658G>A Copied from the Exome Variant Server KHNYN_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1787+15A>G r.(=) p.(=) g.24905710A>G Copied from the Exome Variant Server KHNYN_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1787+31G>T r.(=) p.(=) g.24905726G>T Copied from the Exome Variant Server KHNYN_000087 40/13004 1/8598 39/4406 - - - - - - -
?/? c.1787+42del r.(=) p.(=) g.24905737del Copied from the Exome Variant Server KHNYN_000088 1752/12516 347/8252 1405/4264 - - - - - - -
?/? c.1796G>A r.(?) p.(Gly599Glu) g.24906250G>A Copied from the Exome Variant Server KHNYN_000089 7/13006 7/8600 0/4406 - - - - - - -
?/? c.1838A>G r.(?) p.(His613Arg) g.24906292A>G Copied from the Exome Variant Server KHNYN_000090 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1841G>A r.(?) p.(Gly614Asp) g.24906295G>A Copied from the Exome Variant Server KHNYN_000091 10/13006 0/8600 10/4406 - - - - - - -
?/? c.1897C>T r.(?) p.(Arg633Trp) g.24906351C>T Copied from the Exome Variant Server KHNYN_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1909C>T r.(?) p.(Arg637Trp) g.24906363C>T Copied from the Exome Variant Server KHNYN_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1976G>A r.(?) p.(Arg659Gln) g.24906430G>A Copied from the Exome Variant Server KHNYN_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*8C>G r.(=) p.(=) g.24906499C>G Copied from the Exome Variant Server KHNYN_000095 5/13006 0/8600 5/4406 - - - - - - -
?/? c.*24C>T r.(=) p.(=) g.24906515C>T Copied from the Exome Variant Server KHNYN_000096 1809/13006 350/8600 1459/4406 - - - - - - -
?/? c.*43G>A r.(=) p.(=) g.24906534G>A Copied from the Exome Variant Server KHNYN_000097 1816/12992 351/8592 1465/4400 - - - - - - -
?/? c.*2790C>T r.(=) p.(=) g.24909281C>T Copied from the Exome Variant Server KHNYN_000098 9621/12080 7513/8232 2108/3848 - - - - - - -
?/? c.*2814T>C r.(?) p.(Lys289Arg) g.24909305T>C Copied from the Exome Variant Server KHNYN_000099 32/12132 0/8246 32/3886 - - - - - - -
?/? c.*2871T>C r.(?) p.(Gln270Arg) g.24909362T>C Copied from the Exome Variant Server KHNYN_000100 9862/12402 7607/8336 2255/4066 - - - - - - -
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