Unique variants in gene LZTFL1

Information The variants shown are described using the NM_020347.2 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.-97del r.(=) p.(=) g.45883580del Copied from the Exome Variant Server LZTFL1_000046 11/12010 9/7992 2/4018
1 c.-51G>A r.(=) p.(=) g.45883534C>T Copied from the Exome Variant Server LZTFL1_000045 1/12704 0/8430 1/4274
1 c.-50C>A r.(=) p.(=) g.45883533G>T Copied from the Exome Variant Server LZTFL1_000044 1/12674 1/8406 0/4268
1 c.-37C>T r.(=) p.(=) g.45883520G>A Copied from the Exome Variant Server LZTFL1_000043 28/12634 0/8376 28/4258
1 c.-32G>A r.(=) p.(=) g.45883515C>T Copied from the Exome Variant Server LZTFL1_000042 113/12624 1/8378 112/4246
1 c.-29C>T r.(=) p.(=) g.45883512G>A Copied from the Exome Variant Server LZTFL1_000041 13/12608 13/8366 0/4242
1 c.65G>A r.(?) p.(Arg22His) g.45879482C>T Copied from the Exome Variant Server LZTFL1_000040 1/13006 0/8600 1/4406
1 c.69A>G r.(=) p.(=) g.45879478T>C Copied from the Exome Variant Server LZTFL1_000039 1/13006 1/8600 0/4406
1 c.128+12G>A r.(=) p.(=) g.45879407C>T Copied from the Exome Variant Server LZTFL1_000038 1/13006 1/8600 0/4406
1 c.128+13del r.(=) p.(=) g.45879406del Copied from the Exome Variant Server LZTFL1_000036 1/12520 0/8254 1/4266
1 c.128+13G>A r.(=) p.(=) g.45879406C>T Copied from the Exome Variant Server LZTFL1_000037 5/13006 0/8600 5/4406
1 c.128+41G>T r.(=) p.(=) g.45879378C>A Copied from the Exome Variant Server LZTFL1_000035 1/13006 1/8600 0/4406
1 c.129-37_129-35del r.(=) p.(=) g.45877311_45877313del Copied from the Exome Variant Server LZTFL1_000034 2/12518 2/8252 0/4266
1 c.231C>G r.(=) p.(=) g.45877174G>C Copied from the Exome Variant Server LZTFL1_000033 1/13006 1/8600 0/4406
1 c.264del r.(?) p.(Phe88Leufs*24) g.45877141del Copied from the Exome Variant Server LZTFL1_000032 33/12520 20/8254 13/4266
1 c.323+20C>G r.(=) p.(=) g.45877062G>C Copied from the Exome Variant Server LZTFL1_000031 2/13004 0/8600 2/4404
1 c.323+27G>A r.(=) p.(=) g.45877055C>T Copied from the Exome Variant Server LZTFL1_000030 1/13002 0/8600 1/4402
1 c.348A>G r.(=) p.(=) g.45875766T>C Copied from the Exome Variant Server LZTFL1_000029 1/12980 1/8590 0/4390
1 c.376A>C r.(?) p.(Asn126His) g.45875738T>G Copied from the Exome Variant Server LZTFL1_000028 298/12980 2/8590 296/4390
1 c.384+18_384+19insATTC r.(=) p.(=) g.45875711_45875712insGAAT Copied from the Exome Variant Server LZTFL1_000027 1/12476 1/8236 0/4240
1 c.385-52T>C r.(=) p.(=) g.45874665A>G Copied from the Exome Variant Server LZTFL1_000026 6/7272 0/4618 6/2654
1 c.385-34G>A r.(=) p.(=) g.45874647C>T Copied from the Exome Variant Server LZTFL1_000025 1/13006 1/8600 0/4406
1 c.456+6A>G r.(=) p.(=) g.45874536T>C Copied from the Exome Variant Server LZTFL1_000024 1/13006 0/8600 1/4406
1 c.456+41G>A r.(=) p.(=) g.45874501C>T Copied from the Exome Variant Server LZTFL1_000023 1/13006 1/8600 0/4406
1 c.457-58_457-56del r.(=) p.(=) g.45872686_45872688del Copied from the Exome Variant Server LZTFL1_000022 3/9714 0/6522 3/3192
1 c.554T>C r.(?) p.(Leu185Pro) g.45872451A>G Copied from the Exome Variant Server LZTFL1_000021 1/13000 0/8598 1/4402
1 c.585T>G r.(?) p.(Asp195Glu) g.45872420A>C Copied from the Exome Variant Server LZTFL1_000020 1/13000 1/8598 0/4402
1 c.625A>T r.(?) p.(Ser209Cys) g.45870083T>A Copied from the Exome Variant Server LZTFL1_000019 1/13006 0/8600 1/4406
1 c.626G>C r.(?) p.(Ser209Thr) g.45870082C>G Copied from the Exome Variant Server LZTFL1_000018 1/13006 1/8600 0/4406
1 c.634G>A r.(?) p.(Glu212Lys) g.45870074C>T Copied from the Exome Variant Server LZTFL1_000016 1/13006 1/8600 0/4406
1 c.646G>A r.(?) p.(Ala216Thr) g.45870062C>T Copied from the Exome Variant Server LZTFL1_000014 2/13006 1/8600 1/4406
1 c.679A>G r.(?) p.(Asn227Asp) g.45870029T>C Copied from the Exome Variant Server LZTFL1_000012 1/13006 1/8600 0/4406
1 c.685A>G r.(?) p.(Lys229Glu) g.45870023T>C Copied from the Exome Variant Server LZTFL1_000010 42/13006 0/8600 42/4406
1 c.721G>A r.(?) p.(Ala241Thr) g.45869987C>T Copied from the Exome Variant Server LZTFL1_000008 2/13006 2/8600 0/4406
1 c.722C>T r.(?) p.(Ala241Val) g.45869986G>A Copied from the Exome Variant Server LZTFL1_000006 1/13006 0/8600 1/4406
1 c.723G>A r.(=) p.(=) g.45869985C>T Copied from the Exome Variant Server LZTFL1_000004 4/13006 3/8600 1/4406
1 c.736G>A r.(?) p.(Asp246Asn) g.45869972C>T Copied from the Exome Variant Server LZTFL1_000002 876/13006 686/8600 190/4406
1 c.778-21C>A r.(=) p.(=) g.45868972G>T Copied from the Exome Variant Server LZTFL1_000017 1/13006 0/8600 1/4406
1 c.778-17C>T r.(=) p.(=) g.45868968G>A Copied from the Exome Variant Server LZTFL1_000015 1/13006 1/8600 0/4406
1 c.815G>A r.(?) p.(Arg272Gln) g.45868914C>T Copied from the Exome Variant Server LZTFL1_000013 1/13006 1/8600 0/4406
1 c.882-59T>G r.(=) p.(=) g.45867883A>C Copied from the Exome Variant Server LZTFL1_000011 4/4566 0/3182 4/1384
1 c.882-49A>G r.(=) p.(=) g.45867873T>C Copied from the Exome Variant Server LZTFL1_000009 1/13004 1/8598 0/4406
1 c.882-21G>A r.(=) p.(=) g.45867845C>T Copied from the Exome Variant Server LZTFL1_000007 1/13006 0/8600 1/4406
1 c.882-8A>G r.(=) p.(=) g.45867832T>C Copied from the Exome Variant Server LZTFL1_000005 1/13006 0/8600 1/4406
1 c.894A>G r.(=) p.(=) g.45867812T>C Copied from the Exome Variant Server LZTFL1_000003 1/13006 0/8600 1/4406
1 c.*51C>T r.(=) p.(=) g.45867755G>A Copied from the Exome Variant Server LZTFL1_000001 31/13006 2/8600 29/4406
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