Unique variants in gene PAM

Information The variants shown are described using the NM_000919.3 transcript reference sequence.

190 entries on 2 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.-49C>G r.(=) p.(=) g.102201851C>G Copied from the Exome Variant Server PAM_000001 3/12968 3/8576 0/4392
1 c.-34G>C r.(=) p.(=) g.102201866G>C Copied from the Exome Variant Server PAM_000002 5/12992 0/8588 5/4404
1 c.-5T>C r.(=) p.(=) g.102201895T>C Copied from the Exome Variant Server PAM_000003 2/13006 1/8600 1/4406
1 c.89+23C>T r.(=) p.(=) g.102202011C>T Copied from the Exome Variant Server PAM_000004 87/13006 0/8600 87/4406
1 c.90-51A>T r.(=) p.(=) g.102202926A>T Copied from the Exome Variant Server PAM_000005 38/13006 0/8600 38/4406
1 c.92T>A r.(?) p.(Phe31Tyr) g.102202979T>A Copied from the Exome Variant Server PAM_000006 128/13006 4/8600 124/4406
1 c.104C>A r.(?) p.(Thr35Asn) g.102202991C>A Copied from the Exome Variant Server PAM_000007 1/13006 1/8600 0/4406
1 c.144C>G r.(=) p.(=) g.102203031C>G Copied from the Exome Variant Server PAM_000008 1/13006 1/8600 0/4406
1 c.145G>C r.(?) p.(Val49Leu) g.102203032G>C Copied from the Exome Variant Server PAM_000009 115/13006 98/8600 17/4406
1 c.151C>T r.(?) p.(Pro51Ser) g.102203038C>T Copied from the Exome Variant Server PAM_000010 1/13006 0/8600 1/4406
1 c.160T>C r.(?) p.(Ser54Pro) g.102203047T>C Copied from the Exome Variant Server PAM_000011 4/13006 4/8600 0/4406
1 c.172G>A r.(?) p.(Ala58Thr) g.102203059G>A Copied from the Exome Variant Server PAM_000012 1/13006 1/8600 0/4406
1 c.195G>T r.(=) p.(=) g.102203082G>T Copied from the Exome Variant Server PAM_000013 3/13006 3/8600 0/4406
1 c.210+42A>T r.(=) p.(=) g.102203139A>T Copied from the Exome Variant Server PAM_000014 1/13006 1/8600 0/4406
1 c.210+49A>G r.(=) p.(=) g.102203146A>G Copied from the Exome Variant Server PAM_000015 1/13006 1/8600 0/4406
1 c.211-37C>T r.(=) p.(=) g.102237023C>T Copied from the Exome Variant Server PAM_000016 1/12970 0/8582 1/4388
1 c.211-14_211-13insT r.(=) p.(=) g.102237046_102237047insT Copied from the Exome Variant Server PAM_000017 4/12510 3/8248 1/4262
1 c.228C>T r.(=) p.(=) g.102237077C>T Copied from the Exome Variant Server PAM_000018 1/13006 0/8600 1/4406
1 c.269-51G>T r.(=) p.(=) g.102249587G>T Copied from the Exome Variant Server PAM_000019 199/13004 178/8600 21/4404
1 c.269-47A>T r.(=) p.(=) g.102249591A>T Copied from the Exome Variant Server PAM_000020 1/13004 1/8600 0/4404
1 c.269-42T>A r.(=) p.(=) g.102249596T>A Copied from the Exome Variant Server PAM_000021 1/13004 1/8600 0/4404
1 c.269-7G>T r.(=) p.(=) g.102249631G>T Copied from the Exome Variant Server PAM_000022 2/13006 2/8600 0/4406
1 c.283C>T r.(?) p.(Arg95*) g.102249652C>T Copied from the Exome Variant Server PAM_000023 1/13006 1/8600 0/4406
1 c.310A>T r.(?) p.(Met104Leu) g.102249679A>T Copied from the Exome Variant Server PAM_000024 1/13006 1/8600 0/4406
1 c.318T>C r.(=) p.(=) g.102249687T>C Copied from the Exome Variant Server PAM_000025 1/13006 1/8600 0/4406
1 c.356+3A>G r.spl? p.? g.102249728A>G Copied from the Exome Variant Server PAM_000026 1/13006 1/8600 0/4406
1 c.356+9A>G r.(=) p.(=) g.102249734A>G Copied from the Exome Variant Server PAM_000027 1/13006 1/8600 0/4406
1 c.356+24T>C r.(=) p.(=) g.102249749T>C Copied from the Exome Variant Server PAM_000028 2/13006 0/8600 2/4406
1 c.356+30G>T r.(=) p.(=) g.102249755G>T Copied from the Exome Variant Server PAM_000029 2/13006 2/8600 0/4406
1 c.357-27A>G r.(=) p.(=) g.102260634A>G Copied from the Exome Variant Server PAM_000030 1/13004 1/8598 0/4406
1 c.357-15T>A r.(=) p.(=) g.102260646T>A Copied from the Exome Variant Server PAM_000031 2/13004 2/8598 0/4406
1 c.399G>T r.(=) p.(=) g.102260703G>T Copied from the Exome Variant Server PAM_000032 2/13006 0/8600 2/4406
1 c.411G>A r.(=) p.(=) g.102260715G>A Copied from the Exome Variant Server PAM_000033 1/13006 1/8600 0/4406
1 c.435del r.(?) p.(Gly148Valfs*48) g.102260739del Copied from the Exome Variant Server PAM_000034 1/12518 0/8254 1/4264
1 c.442+35G>T r.(=) p.(=) g.102260781G>T Copied from the Exome Variant Server PAM_000035 1/13006 1/8600 0/4406
1 c.443-5T>C r.spl? p.? g.102262284T>C Copied from the Exome Variant Server PAM_000036 74/13004 0/8598 74/4406
1 c.450A>C r.(=) p.(=) g.102262296A>C Copied from the Exome Variant Server PAM_000037 1/13006 1/8600 0/4406
1 c.492A>G r.(=) p.(=) g.102262338A>G Copied from the Exome Variant Server PAM_000038 1/13006 1/8600 0/4406
1 c.517G>A r.(?) p.(Ala173Thr) g.102262363G>A Copied from the Exome Variant Server PAM_000039 1/13000 1/8594 0/4406
1 c.526+20A>G r.(=) p.(=) g.102262392A>G Copied from the Exome Variant Server PAM_000040 50/13000 0/8594 50/4406
1 c.526+46T>C r.(=) p.(=) g.102262418T>C Copied from the Exome Variant Server PAM_000041 1/13000 1/8594 0/4406
1 c.527-70_527-69insAC r.(=) p.(=) g.102282471_102282472insAC Copied from the Exome Variant Server PAM_000042 48/12478 29/8218 19/4260
1 c.527-69T>A r.(=) p.(=) g.102282472T>A Copied from the Exome Variant Server PAM_000043 1322/4566 999/3182 323/1384
1 c.527-35A>C r.(=) p.(=) g.102282506A>C Copied from the Exome Variant Server PAM_000044 2/13006 2/8600 0/4406
1 c.529A>G r.(?) p.(Asn177Asp) g.102282543A>G Copied from the Exome Variant Server PAM_000046 1/13006 1/8600 0/4406
1 c.569G>A r.(?) p.(Arg190His) g.102282583G>A Copied from the Exome Variant Server PAM_000048 6/13004 6/8600 0/4404
1 c.575C>T r.(?) p.(Pro192Leu) g.102282589C>T Copied from the Exome Variant Server PAM_000050 133/13006 122/8600 11/4406
1 c.575+11C>T r.(=) p.(=) g.102282600C>T Copied from the Exome Variant Server PAM_000052 45/13006 0/8600 45/4406
1 c.575+13A>G r.(=) p.(=) g.102282602A>G Copied from the Exome Variant Server PAM_000054 1/13006 1/8600 0/4406
1 c.575+49C>T r.(=) p.(=) g.102282638C>T Copied from the Exome Variant Server PAM_000056 6/13006 0/8600 6/4406
1 c.576-14A>G r.(=) p.(=) g.102284068A>G Copied from the Exome Variant Server PAM_000045 96/13000 4/8596 92/4404
1 c.632C>A r.(?) p.(Ala211Glu) g.102284138C>A Copied from the Exome Variant Server PAM_000047 3/12998 3/8592 0/4406
1 c.643+17T>A r.(=) p.(=) g.102284166T>A Copied from the Exome Variant Server PAM_000049 2/13000 0/8594 2/4406
1 c.643+37T>G r.(=) p.(=) g.102284186T>G Copied from the Exome Variant Server PAM_000051 6/12998 0/8592 6/4406
1 c.643+64A>G r.(=) p.(=) g.102284213A>G Copied from the Exome Variant Server PAM_000053 4/4552 0/3168 4/1384
1 c.644-19G>A r.(=) p.(=) g.102285222G>A Copied from the Exome Variant Server PAM_000055 3/12994 2/8590 1/4404
1 c.644-11A>C r.(=) p.(=) g.102285230A>C Copied from the Exome Variant Server PAM_000057 2/12996 2/8590 0/4406
1 c.693C>A r.(=) p.(=) g.102285290C>A Copied from the Exome Variant Server PAM_000058 1/13000 1/8594 0/4406
1 c.705A>G r.(=) p.(=) g.102285302A>G Copied from the Exome Variant Server PAM_000059 1/13004 0/8598 1/4406
1 c.724+3A>T r.spl? p.? g.102285324A>T Copied from the Exome Variant Server PAM_000060 1/12996 1/8592 0/4404
1 c.724+14A>G r.(=) p.(=) g.102285335A>G Copied from the Exome Variant Server PAM_000061 1/12996 1/8592 0/4404
1 c.724+48_724+49insG r.(=) p.(=) g.102285369_102285370insG Copied from the Exome Variant Server PAM_000062 2/12498 0/8240 2/4258
1 c.731T>C r.(?) p.(Val244Ala) g.102285612T>C Copied from the Exome Variant Server PAM_000063 5/12998 5/8594 0/4404
1 c.779G>A r.(?) p.(Arg260Gln) g.102285660G>A Copied from the Exome Variant Server PAM_000064 1/13000 1/8596 0/4404
1 c.798A>G r.(=) p.(=) g.102285679A>G Copied from the Exome Variant Server PAM_000065 1/13000 0/8596 1/4404
1 c.801+37T>A r.(=) p.(=) g.102285719T>A Copied from the Exome Variant Server PAM_000066 1/12950 0/8568 1/4382
1 c.802-32T>C r.(=) p.(=) g.102286389T>C Copied from the Exome Variant Server PAM_000067 1/13006 1/8600 0/4406
1 c.802-11C>G r.(=) p.(=) g.102286410C>G Copied from the Exome Variant Server PAM_000068 1/13006 1/8600 0/4406
1 c.879A>G r.(=) p.(=) g.102286498A>G Copied from the Exome Variant Server PAM_000069 1/13006 1/8600 0/4406
1 c.905+39T>C r.(=) p.(=) g.102286563T>C Copied from the Exome Variant Server PAM_000070 1/13006 0/8600 1/4406
1 c.911C>A r.(?) p.(Thr304Lys) g.102295584C>A Copied from the Exome Variant Server PAM_000071 1/13006 1/8600 0/4406
1 c.912G>A r.(=) p.(=) g.102295585G>A Copied from the Exome Variant Server PAM_000072 1/13006 0/8600 1/4406
1 c.913T>A r.(?) p.(Ser305Thr) g.102295586T>A Copied from the Exome Variant Server PAM_000073 1/13006 1/8600 0/4406
1 c.955G>C r.(?) p.(Glu319Gln) g.102295628G>C Copied from the Exome Variant Server PAM_000074 1/13006 1/8600 0/4406
1 c.1050C>T r.(=) p.(=) g.102295723C>T Copied from the Exome Variant Server PAM_000075 133/13006 122/8600 11/4406
1 c.1051G>A r.(?) p.(Val351Met) g.102295724G>A Copied from the Exome Variant Server PAM_000076 11/13006 1/8600 10/4406
1 c.1090+35A>G r.(=) p.(=) g.102295798A>G Copied from the Exome Variant Server PAM_000077 1/12862 0/8544 1/4318
1 c.1104A>G r.(=) p.(=) g.102296875A>G Copied from the Exome Variant Server PAM_000078 1/13006 1/8600 0/4406
1 c.1137_1139del r.(?) p.(Glu383del) g.102296908_102296910del Copied from the Exome Variant Server PAM_000079 7/12516 4/8250 3/4266
1 c.1151T>G r.(?) p.(Val384Gly) g.102296922T>G Copied from the Exome Variant Server PAM_000080 2/13002 0/8596 2/4406
1 c.1162+51G>A r.(=) p.(=) g.102296984G>A Copied from the Exome Variant Server PAM_000081 41/13000 1/8594 40/4406
1 c.1163-29C>T r.(=) p.(=) g.102309791C>T Copied from the Exome Variant Server PAM_000082 2/13004 2/8598 0/4406
1 c.1163-19T>G r.(=) p.(=) g.102309801T>G Copied from the Exome Variant Server PAM_000083 2/13000 1/8596 1/4404
1 c.1163-18C>A r.(=) p.(=) g.102309802C>A Copied from the Exome Variant Server PAM_000084 1/13000 0/8596 1/4404
1 c.1170C>A r.(?) p.(Phe390Leu) g.102309827C>A Copied from the Exome Variant Server PAM_000085 1/13004 1/8598 0/4406
1 c.1187A>G r.(?) p.(Lys396Arg) g.102309844A>G Copied from the Exome Variant Server PAM_000086 3/13004 3/8598 0/4406
1 c.1202G>A r.(?) p.(Arg401Lys) g.102309859G>A Copied from the Exome Variant Server PAM_000087 1/13004 1/8598 0/4406
1 c.1223A>G r.(?) p.(His408Arg) g.102309880A>G Copied from the Exome Variant Server PAM_000088 1/13006 1/8600 0/4406
1 c.1326G>C r.(?) p.(Glu442Asp) g.102309983G>C Copied from the Exome Variant Server PAM_000089 1/13006 1/8600 0/4406
1 c.1354A>G r.(?) p.(Ile452Val) g.102310011A>G Copied from the Exome Variant Server PAM_000090 3/13006 0/8600 3/4406
1 c.1368C>T r.(=) p.(=) g.102310025C>T Copied from the Exome Variant Server PAM_000091 1/13006 0/8600 1/4406
1 c.1396T>G r.(?) p.(Ser466Ala) g.102310053T>G Copied from the Exome Variant Server PAM_000092 1/13006 1/8600 0/4406
1 c.1403T>C r.(?) p.(Leu468Ser) g.102310060T>C Copied from the Exome Variant Server PAM_000093 7/13006 7/8600 0/4406
1 c.1447C>T r.(?) p.(Pro483Ser) g.102310104C>T Copied from the Exome Variant Server PAM_000094 1/13006 1/8600 0/4406
1 c.1473A>C r.(?) p.(Glu491Asp) g.102310130A>C Copied from the Exome Variant Server PAM_000096 133/13006 122/8600 11/4406
1 c.1478C>T r.(?) p.(Thr493Ile) g.102310135C>T Copied from the Exome Variant Server PAM_000098 5/13006 0/8600 5/4406
1 c.1483+3G>A r.spl? p.? g.102310143G>A Copied from the Exome Variant Server PAM_000100 1/13006 1/8600 0/4406
1 c.1483+4C>T r.spl? p.? g.102310144C>T Copied from the Exome Variant Server PAM_000102 1/13006 0/8600 1/4406
1 c.1483+10G>T r.(=) p.(=) g.102310150G>T Copied from the Exome Variant Server PAM_000104 1/13006 1/8600 0/4406
1 c.1483+26G>A r.(=) p.(=) g.102310166G>A Copied from the Exome Variant Server PAM_000106 5456/13006 3036/8600 2420/4406
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