All transcript variants in gene PACSIN3

Information The variants shown are described using the NM_016223.4 transcript reference sequence.

103 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     
?/? c.-37-8C>A r.(=) p.(=) g.47204323G>T Copied from the Exome Variant Server PACSIN3_000103 1/12998 1/8596 0/4402
?/? c.-27G>A r.(=) p.(=) g.47204305C>T Copied from the Exome Variant Server PACSIN3_000101 1/12998 0/8596 1/4402
?/? c.-10C>T r.(=) p.(=) g.47204288G>A Copied from the Exome Variant Server PACSIN3_000099 1/12998 0/8596 1/4402
?/? c.19G>A r.(?) p.(Ala7Thr) g.47204260C>T Copied from the Exome Variant Server PACSIN3_000102 42/12998 0/8596 42/4402
?/? c.25G>C r.(?) p.(Gly9Arg) g.47204254C>G Copied from the Exome Variant Server PACSIN3_000100 1/12998 0/8596 1/4402
?/? c.54+3G>T r.spl? p.? g.47204222C>A Copied from the Exome Variant Server PACSIN3_000098 1/12998 0/8596 1/4402
?/? c.54+36A>G r.(=) p.(=) g.47204189T>C Copied from the Exome Variant Server PACSIN3_000097 1/12998 0/8596 1/4402
?/? c.54+50T>A r.(=) p.(=) g.47204175A>T Copied from the Exome Variant Server PACSIN3_000096 9909/12998 6573/8596 3336/4402
?/? c.55-40G>C r.(=) p.(=) g.47204150C>G Copied from the Exome Variant Server PACSIN3_000095 1/12998 0/8596 1/4402
?/? c.55-29G>A r.(=) p.(=) g.47204139C>T Copied from the Exome Variant Server PACSIN3_000094 7/12998 3/8596 4/4402
?/? c.55-12C>G r.(=) p.(=) g.47204122G>C Copied from the Exome Variant Server PACSIN3_000093 2/12998 1/8596 1/4402
?/? c.70C>T r.(?) p.(Arg24Cys) g.47204095G>A Copied from the Exome Variant Server PACSIN3_000092 1/12998 1/8596 0/4402
?/? c.83G>A r.(?) p.(Arg28Gln) g.47204082C>T Copied from the Exome Variant Server PACSIN3_000091 1/12998 1/8596 0/4402
?/? c.105G>A r.(=) p.(=) g.47204060C>T Copied from the Exome Variant Server PACSIN3_000090 1/12998 1/8596 0/4402
?/? c.111G>A r.(=) p.(=) g.47204054C>T Copied from the Exome Variant Server PACSIN3_000089 1/12998 0/8596 1/4402
?/? c.130C>T r.(?) p.(Gln44*) g.47204035G>A Copied from the Exome Variant Server PACSIN3_000088 1/12998 0/8596 1/4402
?/? c.138C>T r.(=) p.(=) g.47204027G>A Copied from the Exome Variant Server PACSIN3_000087 4/12998 0/8596 4/4402
?/? c.139G>A r.(?) p.(Ala47Thr) g.47204026C>T Copied from the Exome Variant Server PACSIN3_000086 2/12998 2/8596 0/4402
?/? c.142C>T r.(?) p.(Arg48Cys) g.47204023G>A Copied from the Exome Variant Server PACSIN3_000085 1/12998 1/8596 0/4402
?/? c.149A>T r.(?) p.(Glu50Val) g.47204016T>A Copied from the Exome Variant Server PACSIN3_000084 1/12998 0/8596 1/4402
?/? c.182C>T r.(?) p.(Ala61Val) g.47203983G>A Copied from the Exome Variant Server PACSIN3_000083 1299/12998 11/8596 1288/4402
?/? c.185G>A r.(?) p.(Arg62Gln) g.47203980C>T Copied from the Exome Variant Server PACSIN3_000082 1/12998 0/8596 1/4402
?/? c.189G>C r.(?) p.(Lys63Asn) g.47203976C>G Copied from the Exome Variant Server PACSIN3_000081 1/12998 1/8596 0/4402
?/? c.193A>G r.(?) p.(Arg65Gly) g.47203972T>C Copied from the Exome Variant Server PACSIN3_000080 1/12998 1/8596 0/4402
?/? c.201C>T r.(=) p.(=) g.47203964G>A Copied from the Exome Variant Server PACSIN3_000079 1/12998 1/8596 0/4402
?/? c.211+3G>A r.spl? p.? g.47203951C>T Copied from the Exome Variant Server PACSIN3_000078 2/12998 2/8596 0/4402
?/? c.211+4A>T r.spl? p.? g.47203950T>A Copied from the Exome Variant Server PACSIN3_000077 1/12998 1/8596 0/4402
?/? c.211+50C>T r.(=) p.(=) g.47203904G>A Copied from the Exome Variant Server PACSIN3_000076 2721/12996 2011/8594 710/4402
?/? c.211+51G>A r.(=) p.(=) g.47203903C>T Copied from the Exome Variant Server PACSIN3_000075 2/12996 2/8594 0/4402
?/? c.268C>T r.(?) p.(Arg90Trp) g.47202185G>A Copied from the Exome Variant Server PACSIN3_000074 8/12984 7/8586 1/4398
?/? c.276C>T r.(=) p.(=) g.47202177G>A Copied from the Exome Variant Server PACSIN3_000073 1/12988 1/8590 0/4398
?/? c.280C>T r.(=) p.(=) g.47202173G>A Copied from the Exome Variant Server PACSIN3_000072 1/12978 1/8580 0/4398
?/? c.323A>G r.(?) p.(Glu108Gly) g.47202130T>C Copied from the Exome Variant Server PACSIN3_000071 66/12938 1/8560 65/4378
?/? c.333C>T r.(=) p.(=) g.47202120G>A Copied from the Exome Variant Server PACSIN3_000070 11/12896 2/8532 9/4364
?/? c.334G>A r.(?) p.(Ala112Thr) g.47202119C>T Copied from the Exome Variant Server PACSIN3_000069 1/12872 0/8514 1/4358
?/? c.357C>T r.(=) p.(=) g.47202096G>A Copied from the Exome Variant Server PACSIN3_000068 12/12746 12/8434 0/4312
?/? c.381C>T r.(=) p.(=) g.47202072G>A Copied from the Exome Variant Server PACSIN3_000067 1/12724 0/8422 1/4302
?/? c.395C>T r.(?) p.(Ala132Val) g.47202058G>A Copied from the Exome Variant Server PACSIN3_000066 1/12854 1/8516 0/4338
?/? c.396C>T r.(=) p.(=) g.47202057G>A Copied from the Exome Variant Server PACSIN3_000065 52/12856 0/8512 52/4344
?/? c.397G>A r.(?) p.(Glu133Lys) g.47202056C>T Copied from the Exome Variant Server PACSIN3_000064 1/12896 0/8528 1/4368
?/? c.409C>T r.(?) p.(Arg137Cys) g.47202044G>A Copied from the Exome Variant Server PACSIN3_000063 1/12962 0/8570 1/4392
?/? c.447+13G>T r.(=) p.(=) g.47201993C>A Copied from the Exome Variant Server PACSIN3_000062 1/12994 1/8592 0/4402
?/? c.447+25C>G r.(=) p.(=) g.47201981G>C Copied from the Exome Variant Server PACSIN3_000061 1212/12998 783/8596 429/4402
?/? c.448-48G>C r.(=) p.(=) g.47201940C>G Copied from the Exome Variant Server PACSIN3_000060 2/12998 0/8596 2/4402
?/? c.448-38T>C r.(=) p.(=) g.47201930A>G Copied from the Exome Variant Server PACSIN3_000059 217/12998 2/8596 215/4402
?/? c.448-32C>T r.(=) p.(=) g.47201924G>A Copied from the Exome Variant Server PACSIN3_000058 3988/12998 2811/8596 1177/4402
?/? c.448-28G>A r.(=) p.(=) g.47201920C>T Copied from the Exome Variant Server PACSIN3_000057 1/12998 0/8596 1/4402
?/? c.474C>T r.(=) p.(=) g.47201866G>A Copied from the Exome Variant Server PACSIN3_000056 1/12998 0/8596 1/4402
?/? c.474del r.(?) p.(His158Glnfs*137) g.47201866del Copied from the Exome Variant Server PACSIN3_000055 1/12518 0/8254 1/4264
?/? c.475G>A r.(?) p.(Ala159Thr) g.47201865C>T Copied from the Exome Variant Server PACSIN3_000054 1/12998 1/8596 0/4402
?/? c.481C>T r.(?) p.(Arg161Trp) g.47201859G>A Copied from the Exome Variant Server PACSIN3_000052 1/12998 1/8596 0/4402
?/? c.498C>T r.(=) p.(=) g.47201842G>A Copied from the Exome Variant Server PACSIN3_000050 11/12998 0/8596 11/4402
?/? c.506C>T r.(?) p.(Thr169Met) g.47201834G>A Copied from the Exome Variant Server PACSIN3_000048 2/12998 0/8596 2/4402
?/? c.507G>A r.(=) p.(=) g.47201833C>T Copied from the Exome Variant Server PACSIN3_000053 5/12998 0/8596 5/4402
?/? c.538G>A r.(?) p.(Val180Ile) g.47201802C>T Copied from the Exome Variant Server PACSIN3_000051 1/12998 1/8596 0/4402
?/? c.543C>T r.(=) p.(=) g.47201797G>A Copied from the Exome Variant Server PACSIN3_000049 5/12998 4/8596 1/4402
?/? c.571C>T r.(?) p.(Arg191Trp) g.47201769G>A Copied from the Exome Variant Server PACSIN3_000047 6/12998 6/8596 0/4402
?/? c.587C>T r.(?) p.(Ala196Val) g.47201753G>A Copied from the Exome Variant Server PACSIN3_000046 1/12998 0/8596 1/4402
?/? c.597C>T r.(=) p.(=) g.47201743G>A Copied from the Exome Variant Server PACSIN3_000045 1/12998 1/8596 0/4402
?/? c.603+31C>T r.(=) p.(=) g.47201706G>A Copied from the Exome Variant Server PACSIN3_000044 6/12998 0/8596 6/4402
?/? c.603+31_603+32insC r.(=) p.(=) g.47201705_47201706insG Copied from the Exome Variant Server PACSIN3_000043 29/12518 0/8254 29/4264
?/? c.603+37G>A r.(=) p.(=) g.47201700C>T Copied from the Exome Variant Server PACSIN3_000042 5/12998 4/8596 1/4402
?/? c.603+42C>T r.(=) p.(=) g.47201695G>A Copied from the Exome Variant Server PACSIN3_000041 1/12998 0/8596 1/4402
?/? c.604-51C>A r.(=) p.(=) g.47201188G>T Copied from the Exome Variant Server PACSIN3_000040 1/12922 1/8574 0/4348
?/? c.612T>A r.(=) p.(=) g.47201129A>T Copied from the Exome Variant Server PACSIN3_000039 1/12998 1/8596 0/4402
?/? c.626C>T r.(?) p.(Thr209Met) g.47201115G>A Copied from the Exome Variant Server PACSIN3_000038 7/12998 7/8596 0/4402
?/? c.700G>A r.(?) p.(Ala234Thr) g.47201041C>T Copied from the Exome Variant Server PACSIN3_000037 1/12998 0/8596 1/4402
?/? c.712C>T r.(?) p.(Arg238Trp) g.47201029G>A Copied from the Exome Variant Server PACSIN3_000036 1/12998 1/8596 0/4402
?/? c.750C>T r.(=) p.(=) g.47200991G>A Copied from the Exome Variant Server PACSIN3_000035 45/12998 0/8596 45/4402
?/? c.775G>A r.(?) p.(Glu259Lys) g.47200966C>T Copied from the Exome Variant Server PACSIN3_000034 3/12998 3/8596 0/4402
?/? c.779+20C>T r.(=) p.(=) g.47200942G>A Copied from the Exome Variant Server PACSIN3_000033 1/12998 1/8596 0/4402
?/? c.780-23G>A r.(=) p.(=) g.47200853C>T Copied from the Exome Variant Server PACSIN3_000032 1/12998 0/8596 1/4402
?/? c.780-20G>A r.(=) p.(=) g.47200850C>T Copied from the Exome Variant Server PACSIN3_000031 1/12998 1/8596 0/4402
?/? c.780-18G>T r.(=) p.(=) g.47200848C>A Copied from the Exome Variant Server PACSIN3_000030 2/12998 2/8596 0/4402
?/? c.792C>G r.(=) p.(=) g.47200818G>C Copied from the Exome Variant Server PACSIN3_000029 6/12998 4/8596 2/4402
?/? c.796C>T r.(?) p.(Arg266Cys) g.47200814G>A Copied from the Exome Variant Server PACSIN3_000028 1/12998 1/8596 0/4402
?/? c.844C>T r.(?) p.(Arg282Cys) g.47200766G>A Copied from the Exome Variant Server PACSIN3_000027 3/12998 1/8596 2/4402
?/? c.864C>T r.(=) p.(=) g.47200746G>A Copied from the Exome Variant Server PACSIN3_000026 1/12998 0/8596 1/4402
?/? c.865G>A r.(?) p.(Gly289Arg) g.47200745C>T Copied from the Exome Variant Server PACSIN3_000025 1/12998 1/8596 0/4402
?/? c.900+45C>T r.(=) p.(=) g.47200665G>A Copied from the Exome Variant Server PACSIN3_000024 1/12998 1/8596 0/4402
?/? c.934C>T r.(?) p.(Arg312Trp) g.47200548G>A Copied from the Exome Variant Server PACSIN3_000023 1/12998 1/8596 0/4402
?/? c.952C>T r.(?) p.(Arg318Trp) g.47200530G>A Copied from the Exome Variant Server PACSIN3_000022 1/12998 1/8596 0/4402
?/? c.961G>C r.(?) p.(Asp321His) g.47200521C>G Copied from the Exome Variant Server PACSIN3_000021 1/12998 1/8596 0/4402
?/? c.1005C>T r.(=) p.(=) g.47200477G>A Copied from the Exome Variant Server PACSIN3_000020 1/12998 1/8596 0/4402
?/? c.1037+18G>A r.(=) p.(=) g.47200427C>T Copied from the Exome Variant Server PACSIN3_000019 1/12996 1/8594 0/4402
?/? c.1037+21T>C r.(=) p.(=) g.47200424A>G Copied from the Exome Variant Server PACSIN3_000018 99/12996 10/8594 89/4402
?/? c.1037+43C>G r.(=) p.(=) g.47200402G>C Copied from the Exome Variant Server PACSIN3_000017 1128/12996 776/8594 352/4402
?/? c.1037+47C>T r.(=) p.(=) g.47200398G>A Copied from the Exome Variant Server PACSIN3_000016 1/12994 1/8594 0/4400
?/? c.1037+50C>T r.(=) p.(=) g.47200395G>A Copied from the Exome Variant Server PACSIN3_000015 1/12994 0/8594 1/4400
?/? c.1038-20C>G r.(=) p.(=) g.47200058G>C Copied from the Exome Variant Server PACSIN3_000014 1/12996 0/8594 1/4402
?/? c.1040C>T r.(?) p.(Thr347Met) g.47200036G>A Copied from the Exome Variant Server PACSIN3_000013 1/12998 1/8596 0/4402
?/? c.1041G>A r.(=) p.(=) g.47200035C>T Copied from the Exome Variant Server PACSIN3_000012 1/12998 1/8596 0/4402
?/? c.1048G>A r.(?) p.(Asp350Asn) g.47200028C>T Copied from the Exome Variant Server PACSIN3_000011 1/12998 1/8596 0/4402
?/? c.1051G>A r.(?) p.(Glu351Lys) g.47200025C>T Copied from the Exome Variant Server PACSIN3_000010 1/12998 0/8596 1/4402
?/? c.1119C>T r.(=) p.(=) g.47199957G>A Copied from the Exome Variant Server PACSIN3_000009 1/12998 1/8596 0/4402
?/? c.1122C>T r.(=) p.(=) g.47199954G>A Copied from the Exome Variant Server PACSIN3_000008 1/12998 1/8596 0/4402
?/? c.1137T>C r.(=) p.(=) g.47199939A>G Copied from the Exome Variant Server PACSIN3_000007 2/12998 2/8596 0/4402
?/? c.1153C>T r.(?) p.(Arg385*) g.47199923G>A Copied from the Exome Variant Server PACSIN3_000006 1/12998 1/8596 0/4402
?/? c.1194G>C r.(?) p.(Glu398Asp) g.47199563C>G Copied from the Exome Variant Server PACSIN3_000005 1/12998 0/8596 1/4402
?/? c.1211G>A r.(?) p.(Gly404Asp) g.47199546C>T Copied from the Exome Variant Server PACSIN3_000004 2/12998 2/8596 0/4402
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