Full data view for gene DNALI1

Information The variants shown are described using the NM_003462.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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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.3G>A r.? p.? g.38022532G>A Copied from the Exome Variant Server DNALI1_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? c.24C>T r.(=) p.(=) g.38022553C>T Copied from the Exome Variant Server DNALI1_000002 5/13006 0/8600 5/4406 - - - - - - -
?/? c.51T>C r.(=) p.(=) g.38022580T>C Copied from the Exome Variant Server DNALI1_000003 5/13006 5/8600 0/4406 - - - - - - -
?/? c.52A>G r.(?) p.(Thr18Ala) g.38022581A>G Copied from the Exome Variant Server DNALI1_000004 2/13006 2/8600 0/4406 - - - - - - -
?/? c.75G>A r.(=) p.(=) g.38022604G>A Copied from the Exome Variant Server DNALI1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.78C>T r.(=) p.(=) g.38022607C>T Copied from the Exome Variant Server DNALI1_000006 2/13006 0/8600 2/4406 - - - - - - -
?/? c.83A>C r.(?) p.(Asp28Ala) g.38022612A>C Copied from the Exome Variant Server DNALI1_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.93C>G r.(=) p.(=) g.38022622C>G Copied from the Exome Variant Server DNALI1_000008 43/13006 0/8600 43/4406 - - - - - - -
?/? c.121C>T r.(?) p.(Arg41Trp) g.38022650C>T Copied from the Exome Variant Server DNALI1_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.148-37G>C r.(=) p.(=) g.38023167G>C Copied from the Exome Variant Server DNALI1_000010 2/13006 2/8600 0/4406 - - - - - - -
?/? c.148-29T>G r.(=) p.(=) g.38023175T>G Copied from the Exome Variant Server DNALI1_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.151C>A r.(=) p.(=) g.38023207C>A Copied from the Exome Variant Server DNALI1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.152G>A r.(?) p.(Arg51Gln) g.38023208G>A Copied from the Exome Variant Server DNALI1_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.260C>T r.(?) p.(Ala87Val) g.38023316C>T Copied from the Exome Variant Server DNALI1_000014 2638/13006 2211/8600 427/4406 - - - - - - -
?/? c.267A>G r.(=) p.(=) g.38023323A>G Copied from the Exome Variant Server DNALI1_000016 8/13006 7/8600 1/4406 - - - - - - -
?/? c.282A>G r.(?) p.(Ile94Met) g.38023338A>G Copied from the Exome Variant Server DNALI1_000018 19/13006 14/8600 5/4406 - - - - - - -
?/? c.293+18G>C r.(=) p.(=) g.38023367G>C Copied from the Exome Variant Server DNALI1_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.293+44A>G r.(=) p.(=) g.38023393A>G Copied from the Exome Variant Server DNALI1_000022 92/13006 0/8600 92/4406 - - - - - - -
?/? c.294-32G>T r.(=) p.(=) g.38024896G>T Copied from the Exome Variant Server DNALI1_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.294-16_294-15insC r.(=) p.(=) g.38024912_38024913insC Copied from the Exome Variant Server DNALI1_000015 7/12520 0/8254 7/4266 - - - - - - -
?/? c.330G>T r.(?) p.(Gln110His) g.38024964G>T Copied from the Exome Variant Server DNALI1_000017 4/13006 4/8600 0/4406 - - - - - - -
?/? c.361G>A r.(?) p.(Val121Met) g.38024995G>A Copied from the Exome Variant Server DNALI1_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.436C>T r.(?) p.(Arg146Cys) g.38025070C>T Copied from the Exome Variant Server DNALI1_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.463+6T>C r.(=) p.(=) g.38025103T>C Copied from the Exome Variant Server DNALI1_000023 748/13006 670/8600 78/4406 - - - - - - -
?/? c.463+7G>A r.(=) p.(=) g.38025104G>A Copied from the Exome Variant Server DNALI1_000024 3/13006 3/8600 0/4406 - - - - - - -
?/? c.463+20G>A r.(=) p.(=) g.38025117G>A Copied from the Exome Variant Server DNALI1_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.463+43C>T r.(=) p.(=) g.38025140C>T Copied from the Exome Variant Server DNALI1_000027 31/13006 2/8600 29/4406 - - - - - - -
?/? c.464-36G>A r.(=) p.(=) g.38027122G>A Copied from the Exome Variant Server DNALI1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.464-30T>C r.(=) p.(=) g.38027128T>C Copied from the Exome Variant Server DNALI1_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.464-10G>A r.(=) p.(=) g.38027148G>A Copied from the Exome Variant Server DNALI1_000030 147/13006 137/8600 10/4406 - - - - - - -
?/? c.464-1G>A r.spl? p.? g.38027157G>A Copied from the Exome Variant Server DNALI1_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.521G>A r.(?) p.(Arg174Gln) g.38027215G>A Copied from the Exome Variant Server DNALI1_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.541A>G r.(?) p.(Met181Val) g.38027235A>G Copied from the Exome Variant Server DNALI1_000033 2/13006 2/8600 0/4406 - - - - - - -
?/? c.546C>G r.(=) p.(=) g.38027240C>G Copied from the Exome Variant Server DNALI1_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.549C>T r.(=) p.(=) g.38027243C>T Copied from the Exome Variant Server DNALI1_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.570C>A r.(?) p.(Tyr190*) g.38027264C>A Copied from the Exome Variant Server DNALI1_000036 3/13006 3/8600 0/4406 - - - - - - -
?/? c.571G>A r.(?) p.(Glu191Lys) g.38027265G>A Copied from the Exome Variant Server DNALI1_000037 2/13006 1/8600 1/4406 - - - - - - -
?/? c.589G>A r.(?) p.(Gly197Ser) g.38027283G>A Copied from the Exome Variant Server DNALI1_000038 2/13006 2/8600 0/4406 - - - - - - -
?/? c.592A>G r.(?) p.(Met198Val) g.38027286A>G Copied from the Exome Variant Server DNALI1_000039 2/13006 2/8600 0/4406 - - - - - - -
?/? c.623A>T r.(?) p.(Lys208Met) g.38027317A>T Copied from the Exome Variant Server DNALI1_000040 17/13006 0/8600 17/4406 - - - - - - -
?/? c.642A>G r.(=) p.(=) g.38027336A>G Copied from the Exome Variant Server DNALI1_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.642+16C>A r.(=) p.(=) g.38027352C>A Copied from the Exome Variant Server DNALI1_000042 38/13006 36/8600 2/4406 - - - - - - -
?/? c.642+25T>C r.(=) p.(=) g.38027361T>C Copied from the Exome Variant Server DNALI1_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.643-40C>T r.(=) p.(=) g.38027642C>T Copied from the Exome Variant Server DNALI1_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.643-40del r.(=) p.(=) g.38027642del Copied from the Exome Variant Server DNALI1_000044 13/12520 7/8254 6/4266 - - - - - - -
?/? c.643-34G>A r.(=) p.(=) g.38027648G>A Copied from the Exome Variant Server DNALI1_000046 89/13006 0/8600 89/4406 - - - - - - -
?/? c.643-25G>C r.(=) p.(=) g.38027657G>C Copied from the Exome Variant Server DNALI1_000047 3/13006 0/8600 3/4406 - - - - - - -
?/? c.643-8_643-6del r.(=) p.(=) g.38027674_38027676del Copied from the Exome Variant Server DNALI1_000048 69/12520 51/8254 18/4266 - - - - - - -
?/? c.643-1G>C r.spl? p.? g.38027681G>C Copied from the Exome Variant Server DNALI1_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.646G>A r.(?) p.(Ala216Thr) g.38027685G>A Copied from the Exome Variant Server DNALI1_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.652T>C r.(=) p.(=) g.38027691T>C Copied from the Exome Variant Server DNALI1_000051 5/13006 1/8600 4/4406 - - - - - - -
?/? c.657G>A r.(=) p.(=) g.38027696G>A Copied from the Exome Variant Server DNALI1_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.659C>T r.(?) p.(Thr220Met) g.38027698C>T Copied from the Exome Variant Server DNALI1_000053 2/13006 2/8600 0/4406 - - - - - - -
?/? c.660G>A r.(=) p.(=) g.38027699G>A Copied from the Exome Variant Server DNALI1_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.683A>G r.(?) p.(Gln228Arg) g.38027722A>G Copied from the Exome Variant Server DNALI1_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.697A>G r.(?) p.(Lys233Glu) g.38027736A>G Copied from the Exome Variant Server DNALI1_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.698A>C r.(?) p.(Lys233Thr) g.38027737A>C Copied from the Exome Variant Server DNALI1_000057 26/13006 0/8600 26/4406 - - - - - - -
?/? c.725G>A r.(?) p.(Arg242Gln) g.38027764G>A Copied from the Exome Variant Server DNALI1_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.731G>C r.(?) p.(Ser244Thr) g.38027770G>C Copied from the Exome Variant Server DNALI1_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.732C>T r.(=) p.(=) g.38027771C>T Copied from the Exome Variant Server DNALI1_000060 101/13006 1/8600 100/4406 - - - - - - -
?/? c.739C>T r.(?) p.(Arg247Trp) g.38027778C>T Copied from the Exome Variant Server DNALI1_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.741G>A r.(=) p.(=) g.38027780G>A Copied from the Exome Variant Server DNALI1_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.752_754del r.(?) p.(Lys253del) g.38027791_38027793del Copied from the Exome Variant Server DNALI1_000063 4/12520 1/8254 3/4266 - - - - - - -
?/? c.757A>C r.(?) p.(Lys253Gln) g.38027796A>C Copied from the Exome Variant Server DNALI1_000064 116/13006 86/8600 30/4406 - - - - - - -
?/? c.776A>G r.(?) p.(Gln259Arg) g.38027815A>G Copied from the Exome Variant Server DNALI1_000065 10/13006 9/8600 1/4406 - - - - - - -
?/? c.788G>A r.(?) p.(Arg263Gln) g.38027827G>A Copied from the Exome Variant Server DNALI1_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.804G>C r.(=) p.(=) g.38027843G>C Copied from the Exome Variant Server DNALI1_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.807+10G>A r.(=) p.(=) g.38027856G>A Copied from the Exome Variant Server DNALI1_000068 102/13006 1/8600 101/4406 - - - - - - -
?/? c.807+23_807+24insGGA r.(=) p.(=) g.38027869_38027870insGGA Copied from the Exome Variant Server DNALI1_000069 46/12512 0/8250 46/4262 - - - - - - -
?/? c.807+44G>A r.(=) p.(=) g.38027890G>A Copied from the Exome Variant Server DNALI1_000070 5/12992 4/8592 1/4400 - - - - - - -
?/? c.808-18C>T r.(=) p.(=) g.38030609C>T Copied from the Exome Variant Server DNALI1_000071 755/13006 671/8600 84/4406 - - - - - - -
?/? c.808-11T>C r.(=) p.(=) g.38030616T>C Copied from the Exome Variant Server DNALI1_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.822C>T r.(=) p.(=) g.38030641C>T Copied from the Exome Variant Server DNALI1_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*9A>G r.(=) p.(=) g.38030671A>G Copied from the Exome Variant Server DNALI1_000074 2/13006 2/8600 0/4406 - - - - - - -
?/? c.*34T>C r.(=) p.(=) g.38030696T>C Copied from the Exome Variant Server DNALI1_000075 4884/13006 3782/8600 1102/4406 - - - - - - -
?/? c.*44T>C r.(=) p.(=) g.38030706T>C Copied from the Exome Variant Server DNALI1_000076 173/13006 1/8600 172/4406 - - - - - - -
?/? c.*1758C>T r.(=) p.(=) g.38032420C>T Copied from the Exome Variant Server DNALI1_000077 19/13004 1/8598 18/4406 - - - - - - -
Legend