Unique variants in gene KTN1

Information The variants shown are described using the NM_182926.2 transcript reference sequence.

328 entries on 4 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-28T>G r.(=) p.(=) g.56078739T>G Copied from the Exome Variant Server KTN1_000001 3468/12986 2773/8588 695/4398
1 c.28A>G r.(?) p.(Ile10Val) g.56078794A>G Copied from the Exome Variant Server KTN1_000002 1/12994 1/8594 0/4400
1 c.66C>T r.(=) p.(=) g.56078832C>T Copied from the Exome Variant Server KTN1_000003 1/12986 1/8590 0/4396
1 c.145C>G r.(?) p.(Pro49Ala) g.56078911C>G Copied from the Exome Variant Server KTN1_000004 2/12998 2/8594 0/4404
1 c.182A>G r.(?) p.(Lys61Arg) g.56078948A>G Copied from the Exome Variant Server KTN1_000005 1/13000 1/8596 0/4404
1 c.192G>A r.(=) p.(=) g.56078958G>A Copied from the Exome Variant Server KTN1_000006 13/13000 0/8596 13/4404
1 c.205A>G r.(?) p.(Asn69Asp) g.56078971A>G Copied from the Exome Variant Server KTN1_000007 1/13002 1/8598 0/4404
1 c.208G>A r.(?) p.(Gly70Arg) g.56078974G>A Copied from the Exome Variant Server KTN1_000008 1/13006 1/8600 0/4406
1 c.222A>G r.(=) p.(=) g.56078988A>G Copied from the Exome Variant Server KTN1_000009 2/13006 0/8600 2/4406
1 c.228C>G r.(?) p.(Asp76Glu) g.56078994C>G Copied from the Exome Variant Server KTN1_000010 1/13006 1/8600 0/4406
1 c.263_264del r.(?) p.(Asp88Glyfs*7) g.56079029_56079030del Copied from the Exome Variant Server KTN1_000011 1/12518 0/8254 1/4264
1 c.273A>T r.(=) p.(=) g.56079039A>T Copied from the Exome Variant Server KTN1_000012 443/13006 405/8600 38/4406
1 c.283G>A r.(?) p.(Asp95Asn) g.56079049G>A Copied from the Exome Variant Server KTN1_000013 1/13006 0/8600 1/4406
1 c.311T>G r.(?) p.(Val104Gly) g.56079077T>G Copied from the Exome Variant Server KTN1_000014 1/13006 0/8600 1/4406
1 c.329G>C r.(?) p.(Ser110Thr) g.56079095G>C Copied from the Exome Variant Server KTN1_000015 1/13006 1/8600 0/4406
1 c.336G>A r.(=) p.(=) g.56079102G>A Copied from the Exome Variant Server KTN1_000016 1/13006 1/8600 0/4406
1 c.459C>G r.(=) p.(=) g.56079225C>G Copied from the Exome Variant Server KTN1_000017 1/13006 0/8600 1/4406
1 c.477T>A r.(=) p.(=) g.56079243T>A Copied from the Exome Variant Server KTN1_000018 1/13006 1/8600 0/4406
1 c.483G>A r.(=) p.(=) g.56079249G>A Copied from the Exome Variant Server KTN1_000019 2/13006 1/8600 1/4406
1 c.523+11C>G r.(=) p.(=) g.56079300C>G Copied from the Exome Variant Server KTN1_000020 1/12984 0/8588 1/4396
1 c.524-52C>T r.(=) p.(=) g.56083183C>T Copied from the Exome Variant Server KTN1_000022 1/5734 1/3982 0/1752
1 c.524-42A>G r.(=) p.(=) g.56083193A>G Copied from the Exome Variant Server KTN1_000024 1/13006 1/8600 0/4406
1 c.524-41T>C r.(=) p.(=) g.56083194T>C Copied from the Exome Variant Server KTN1_000026 1/13006 1/8600 0/4406
1 c.524-26del r.(=) p.(=) g.56083209del Copied from the Exome Variant Server KTN1_000028 1/12518 0/8254 1/4264
1 c.533A>T r.(?) p.(Asp178Val) g.56083244A>T Copied from the Exome Variant Server KTN1_000030 9/13006 8/8600 1/4406
1 c.555G>T r.(?) p.(Met185Ile) g.56083266G>T Copied from the Exome Variant Server KTN1_000021 1/13006 1/8600 0/4406
1 c.564A>C r.(=) p.(=) g.56083275A>C Copied from the Exome Variant Server KTN1_000023 1/13006 0/8600 1/4406
1 c.570G>A r.(=) p.(=) g.56083281G>A Copied from the Exome Variant Server KTN1_000025 1/13006 1/8600 0/4406
1 c.588C>A r.(=) p.(=) g.56083299C>A Copied from the Exome Variant Server KTN1_000027 1/13006 0/8600 1/4406
1 c.615A>G r.(=) p.(=) g.56083326A>G Copied from the Exome Variant Server KTN1_000029 1/13006 1/8600 0/4406
1 c.632C>G r.(?) p.(Ala211Gly) g.56083343C>G Copied from the Exome Variant Server KTN1_000031 1/13006 0/8600 1/4406
1 c.661+31G>A r.(=) p.(=) g.56083403G>A Copied from the Exome Variant Server KTN1_000032 1/13006 0/8600 1/4406
1 c.662-47T>C r.(=) p.(=) g.56084635T>C Copied from the Exome Variant Server KTN1_000033 1/13002 0/8596 1/4406
1 c.662-30A>G r.(=) p.(=) g.56084652A>G Copied from the Exome Variant Server KTN1_000034 21/13006 1/8600 20/4406
1 c.664T>C r.(?) p.(Phe222Leu) g.56084684T>C Copied from the Exome Variant Server KTN1_000035 1/13006 1/8600 0/4406
1 c.694A>G r.(?) p.(Thr232Ala) g.56084714A>G Copied from the Exome Variant Server KTN1_000036 64/13006 57/8600 7/4406
1 c.748G>A r.(?) p.(Glu250Lys) g.56084768G>A Copied from the Exome Variant Server KTN1_000037 1/13006 1/8600 0/4406
1 c.767A>G r.(?) p.(Lys256Arg) g.56084787A>G Copied from the Exome Variant Server KTN1_000038 1/13006 1/8600 0/4406
1 c.792G>T r.(?) p.(Gln264His) g.56084812G>T Copied from the Exome Variant Server KTN1_000039 1/13006 0/8600 1/4406
1 c.800G>T r.(?) p.(Gly267Val) g.56084820G>T Copied from the Exome Variant Server KTN1_000040 12/13006 9/8600 3/4406
1 c.820G>A r.(?) p.(Glu274Lys) g.56084840G>A Copied from the Exome Variant Server KTN1_000041 2/13002 1/8598 1/4404
1 c.830A>G r.(?) p.(Lys277Arg) g.56084850A>G Copied from the Exome Variant Server KTN1_000042 1/12996 0/8596 1/4400
1 c.832+7_832+8insATGGG r.(=) p.(=) g.56084859_56084860insATGGG Copied from the Exome Variant Server KTN1_000043 1/12486 0/8238 1/4248
1 c.832+8A>G r.(=) p.(=) g.56084860A>G Copied from the Exome Variant Server KTN1_000044 1/12986 0/8588 1/4398
1 c.832+34A>G r.(=) p.(=) g.56084886A>G Copied from the Exome Variant Server KTN1_000045 3/12932 1/8570 2/4362
1 c.833-28_833-25del r.(=) p.(=) g.56085872_56085875del Copied from the Exome Variant Server KTN1_000046 21/12512 7/8252 14/4260
1 c.833-4T>A r.spl? p.? g.56085896T>A Copied from the Exome Variant Server KTN1_000047 1/13006 0/8600 1/4406
1 c.880A>T r.(?) p.(Met294Leu) g.56085947A>T Copied from the Exome Variant Server KTN1_000048 2/13006 0/8600 2/4406
1 c.897T>C r.(=) p.(=) g.56085964T>C Copied from the Exome Variant Server KTN1_000049 5/13006 0/8600 5/4406
1 c.920T>C r.(?) p.(Leu307Ser) g.56085987T>C Copied from the Exome Variant Server KTN1_000050 11/13006 0/8600 11/4406
1 c.958A>C r.(?) p.(Lys320Gln) g.56086025A>C Copied from the Exome Variant Server KTN1_000051 2/13006 0/8600 2/4406
1 c.963+7G>A r.(=) p.(=) g.56086037G>A Copied from the Exome Variant Server KTN1_000052 1/13006 1/8600 0/4406
1 c.964-30A>G r.(=) p.(=) g.56094600A>G Copied from the Exome Variant Server KTN1_000053 1/13006 1/8600 0/4406
1 c.985A>G r.(?) p.(Thr329Ala) g.56094651A>G Copied from the Exome Variant Server KTN1_000054 44/13006 0/8600 44/4406
1 c.1034A>C r.(?) p.(Lys345Thr) g.56094700A>C Copied from the Exome Variant Server KTN1_000055 1/13006 1/8600 0/4406
1 c.1046C>T r.(?) p.(Ala349Val) g.56094712C>T Copied from the Exome Variant Server KTN1_000056 1/13006 0/8600 1/4406
1 c.1055A>G r.(?) p.(Lys352Arg) g.56094721A>G Copied from the Exome Variant Server KTN1_000057 1/13006 1/8600 0/4406
1 c.1059T>G r.(?) p.(Asp353Glu) g.56094725T>G Copied from the Exome Variant Server KTN1_000058 2/13006 0/8600 2/4406
1 c.1060C>A r.(=) p.(=) g.56094726C>A Copied from the Exome Variant Server KTN1_000059 301/13006 2/8600 299/4406
1 c.1077C>T r.(=) p.(=) g.56094743C>T Copied from the Exome Variant Server KTN1_000060 1/13006 1/8600 0/4406
1 c.1080+20C>T r.(=) p.(=) g.56094766C>T Copied from the Exome Variant Server KTN1_000061 90/13006 0/8600 90/4406
1 c.1080+43G>C r.(=) p.(=) g.56094789G>C Copied from the Exome Variant Server KTN1_000062 1/13006 0/8600 1/4406
1 c.1081-50A>C r.(=) p.(=) g.56096625A>C Copied from the Exome Variant Server KTN1_000063 1/12852 1/8546 0/4306
1 c.1081-40T>C r.(=) p.(=) g.56096635T>C Copied from the Exome Variant Server KTN1_000064 6/12896 0/8558 6/4338
1 c.1081-28T>A r.(=) p.(=) g.56096647T>A Copied from the Exome Variant Server KTN1_000065 191/12942 31/8576 160/4366
1 c.1092A>C r.(=) p.(=) g.56096686A>C Copied from the Exome Variant Server KTN1_000066 346/13006 31/8600 315/4406
1 c.1137A>G r.(=) p.(=) g.56096731A>G Copied from the Exome Variant Server KTN1_000067 1111/13006 845/8600 266/4406
1 c.1221+27A>T r.(=) p.(=) g.56096842A>T Copied from the Exome Variant Server KTN1_000068 1/13006 1/8600 0/4406
1 c.1222-43C>T r.(=) p.(=) g.56099910C>T Copied from the Exome Variant Server KTN1_000069 3/13002 0/8598 3/4404
1 c.1223T>A r.(?) p.(Phe408Tyr) g.56099954T>A Copied from the Exome Variant Server KTN1_000070 1/13004 0/8600 1/4404
1 c.1328+19T>A r.(=) p.(=) g.56100078T>A Copied from the Exome Variant Server KTN1_000071 70/13006 2/8600 68/4406
1 c.1328+28A>G r.(=) p.(=) g.56100087A>G Copied from the Exome Variant Server KTN1_000072 70/13006 2/8600 68/4406
1 c.1328+51G>C r.(=) p.(=) g.56100110G>C Copied from the Exome Variant Server KTN1_000073 1/12992 1/8592 0/4400
1 c.1329-47A>T r.(=) p.(=) g.56101197A>T Copied from the Exome Variant Server KTN1_000074 2/12982 0/8590 2/4392
1 c.1329-45A>G r.(=) p.(=) g.56101199A>G Copied from the Exome Variant Server KTN1_000075 1/12988 1/8592 0/4396
1 c.1329-32C>T r.(=) p.(=) g.56101212C>T Copied from the Exome Variant Server KTN1_000076 3634/13006 2355/8600 1279/4406
1 c.1329G>T r.(?) p.(Lys443Asn) g.56101244G>T Copied from the Exome Variant Server KTN1_000077 2/13006 0/8600 2/4406
1 c.1366G>T r.(?) p.(Ala456Ser) g.56101281G>T Copied from the Exome Variant Server KTN1_000078 1/13006 1/8600 0/4406
1 c.1461+7T>C r.(=) p.(=) g.56101383T>C Copied from the Exome Variant Server KTN1_000079 2/13006 2/8600 0/4406
1 c.1461+16C>T r.(=) p.(=) g.56101392C>T Copied from the Exome Variant Server KTN1_000080 1/13006 0/8600 1/4406
1 c.1461+42T>C r.(=) p.(=) g.56101418T>C Copied from the Exome Variant Server KTN1_000081 2/13006 2/8600 0/4406
1 c.1462-32A>G r.(=) p.(=) g.56103135A>G Copied from the Exome Variant Server KTN1_000082 1/13004 1/8600 0/4404
1 c.1462-26T>C r.(=) p.(=) g.56103141T>C Copied from the Exome Variant Server KTN1_000083 1/13004 0/8600 1/4404
1 c.1545G>A r.(=) p.(=) g.56103250G>A Copied from the Exome Variant Server KTN1_000084 1/13006 0/8600 1/4406
1 c.1549+55C>A r.(=) p.(=) g.56103309C>A Copied from the Exome Variant Server KTN1_000085 1/4566 1/3182 0/1384
1 c.1550-44A>C r.(=) p.(=) g.56103872A>C Copied from the Exome Variant Server KTN1_000086 841/12990 761/8592 80/4398
1 c.1550-34A>G r.(=) p.(=) g.56103882A>G Copied from the Exome Variant Server KTN1_000087 1590/12988 1425/8590 165/4398
1 c.1550-16T>G r.(=) p.(=) g.56103900T>G Copied from the Exome Variant Server KTN1_000088 20/12996 19/8598 1/4398
1 c.1560T>A r.(?) p.(Ser520Arg) g.56103926T>A Copied from the Exome Variant Server KTN1_000089 1/13002 0/8598 1/4404
1 c.1566T>C r.(=) p.(=) g.56103932T>C Copied from the Exome Variant Server KTN1_000090 1/13002 0/8598 1/4404
1 c.1616C>A r.(?) p.(Thr539Asn) g.56103982C>A Copied from the Exome Variant Server KTN1_000091 3/13004 2/8600 1/4404
1 c.1653G>A r.(?) p.(Met551Ile) g.56104019G>A Copied from the Exome Variant Server KTN1_000092 2/13006 2/8600 0/4406
1 c.1688A>T r.(?) p.(Lys563Ile) g.56104054A>T Copied from the Exome Variant Server KTN1_000093 1/13006 0/8600 1/4406
1 c.1706T>G r.(?) p.(Met569Arg) g.56104072T>G Copied from the Exome Variant Server KTN1_000094 1/13006 0/8600 1/4406
1 c.1709A>G r.(?) p.(Gln570Arg) g.56104075A>G Copied from the Exome Variant Server KTN1_000095 1/13006 1/8600 0/4406
1 c.1716+14_1716+15del r.(=) p.(=) g.56104096_56104097del Copied from the Exome Variant Server KTN1_000096 222/12236 52/8158 170/4078
1 c.1716+14_1716+15dup r.(=) p.(=) g.56104096_56104097dup Copied from the Exome Variant Server KTN1_000097 54/12236 36/8158 18/4078
1 c.1716+15del r.(=) p.(=) g.56104097del Copied from the Exome Variant Server KTN1_000099 1769/12236 1119/8158 650/4078
1 c.1716+15dup r.(=) p.(=) g.56104097dup Copied from the Exome Variant Server KTN1_000098 749/12236 559/8158 190/4078
1 c.1716+26T>A r.(=) p.(=) g.56104108T>A Copied from the Exome Variant Server KTN1_000100 91/12764 45/8528 46/4236
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