Unique variants in gene LUZP4

Information The variants shown are described using the NM_016383.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.-28G>C r.(=) p.(=) g.114524298G>C Copied from the Exome Variant Server LUZP4_000001 5/10563 5/6728 0/3835
1 c.-12G>A r.(=) p.(=) g.114524314G>A Copied from the Exome Variant Server LUZP4_000002 67/10563 61/6728 6/3835
1 c.-5G>A r.(=) p.(=) g.114524321G>A Copied from the Exome Variant Server LUZP4_000003 3/10563 0/6728 3/3835
1 c.-1G>A r.(=) p.(=) g.114524325G>A Copied from the Exome Variant Server LUZP4_000004 1/10563 1/6728 0/3835
1 c.8C>G r.(?) p.(Ser3Trp) g.114524333C>G Copied from the Exome Variant Server LUZP4_000005 5/10563 5/6728 0/3835
1 c.13C>T r.(?) p.(Arg5Trp) g.114524338C>T Copied from the Exome Variant Server LUZP4_000006 4/10563 0/6728 4/3835
1 c.40C>T r.(?) p.(Pro14Ser) g.114524365C>T Copied from the Exome Variant Server LUZP4_000007 152/10563 1/6728 151/3835
1 c.80A>G r.(?) p.(Asp27Gly) g.114524405A>G Copied from the Exome Variant Server LUZP4_000008 1/10563 0/6728 1/3835
1 c.94G>A r.(?) p.(Asp32Asn) g.114536559G>A Copied from the Exome Variant Server LUZP4_000009 2/10562 0/6727 2/3835
1 c.96C>T r.(=) p.(=) g.114536561C>T Copied from the Exome Variant Server LUZP4_000010 1/10562 1/6727 0/3835
1 c.148del r.(?) p.(Arg51Aspfs*56) g.114536613del Copied from the Exome Variant Server LUZP4_000011 227/10205 139/6484 88/3721
1 c.164G>A r.(?) p.(Ser55Asn) g.114536629G>A Copied from the Exome Variant Server LUZP4_000012 3/10563 0/6728 3/3835
1 c.223+32A>C r.(=) p.(=) g.114536720A>C Copied from the Exome Variant Server LUZP4_000013 2/10563 2/6728 0/3835
1 c.225C>T r.(=) p.(=) g.114537866C>T Copied from the Exome Variant Server LUZP4_000014 2/10562 2/6728 0/3834
1 c.342+5A>G r.spl? p.? g.114537988A>G Copied from the Exome Variant Server LUZP4_000015 15/10563 1/6728 14/3835
1 c.343-48C>A r.(=) p.(=) g.114540722C>A Copied from the Exome Variant Server LUZP4_000016 2/10537 1/6715 1/3822
1 c.362A>G r.(?) p.(Tyr121Cys) g.114540789A>G Copied from the Exome Variant Server LUZP4_000017 1/10563 1/6728 0/3835
1 c.368C>A r.(?) p.(Ala123Asp) g.114540795C>A Copied from the Exome Variant Server LUZP4_000018 1/10563 1/6728 0/3835
1 c.427C>T r.(?) p.(Pro143Ser) g.114540854C>T Copied from the Exome Variant Server LUZP4_000019 3/10563 0/6728 3/3835
1 c.429G>A r.(=) p.(=) g.114540856G>A Copied from the Exome Variant Server LUZP4_000020 2/10563 2/6728 0/3835
1 c.442G>A r.(?) p.(Glu148Lys) g.114540869G>A Copied from the Exome Variant Server LUZP4_000021 2/10563 0/6728 2/3835
1 c.456A>G r.(=) p.(=) g.114540883A>G Copied from the Exome Variant Server LUZP4_000022 121/10563 1/6728 120/3835
1 c.498A>G r.(=) p.(=) g.114540925A>G Copied from the Exome Variant Server LUZP4_000023 4/10563 0/6728 4/3835
1 c.537G>A r.(=) p.(=) g.114540964G>A Copied from the Exome Variant Server LUZP4_000024 15/10563 15/6728 0/3835
1 c.552T>C r.(=) p.(=) g.114540979T>C Copied from the Exome Variant Server LUZP4_000025 2/10563 0/6728 2/3835
1 c.600A>G r.(=) p.(=) g.114541027A>G Copied from the Exome Variant Server LUZP4_000026 718/10563 660/6728 58/3835
1 c.611C>A r.(?) p.(Ser204Tyr) g.114541038C>A Copied from the Exome Variant Server LUZP4_000027 1/10563 0/6728 1/3835
1 c.631T>G r.(?) p.(Ser211Ala) g.114541058T>G Copied from the Exome Variant Server LUZP4_000028 39/10563 0/6728 39/3835
1 c.645_648del r.(?) p.(Glu216Aspfs*30) g.114541072_114541075del Copied from the Exome Variant Server LUZP4_000029 5/10203 4/6482 1/3721
1 c.677A>G r.(?) p.(His226Arg) g.114541104A>G Copied from the Exome Variant Server LUZP4_000030 1/10563 1/6728 0/3835
1 c.688A>G r.(?) p.(Lys230Glu) g.114541115A>G Copied from the Exome Variant Server LUZP4_000031 1/10563 0/6728 1/3835
1 c.697C>T r.(?) p.(Arg233Cys) g.114541124C>T Copied from the Exome Variant Server LUZP4_000032 1/10563 0/6728 1/3835
1 c.698G>A r.(?) p.(Arg233His) g.114541125G>A Copied from the Exome Variant Server LUZP4_000034 2/10563 1/6728 1/3835
1 c.754C>G r.(?) p.(Leu252Val) g.114541181C>G Copied from the Exome Variant Server LUZP4_000033 1/10563 1/6728 0/3835
1 c.779T>C r.(?) p.(Ile260Thr) g.114541206T>C Copied from the Exome Variant Server LUZP4_000035 1/10563 1/6728 0/3835
1 c.804_824del r.(?) p.(Ile274_Leu280del) g.114541231_114541251del Copied from the Exome Variant Server LUZP4_000036 114/10203 69/6482 45/3721
1 c.824T>C r.(?) p.(Val275Ala) g.114541251T>C Copied from the Exome Variant Server LUZP4_000037 17/10563 5/6728 12/3835
1 c.830_833del r.(?) p.(Arg278Ilefs*10) g.114541257_114541260del Copied from the Exome Variant Server LUZP4_000038 94/10203 65/6482 29/3721
1 c.837T>A r.(?) p.(Asp279Glu) g.114541264T>A Copied from the Exome Variant Server LUZP4_000039 1/10563 1/6728 0/3835
1 c.855_858del r.(?) p.(Arg285Serfs*3) g.114541282_114541285del Copied from the Exome Variant Server LUZP4_000040 1/10203 0/6482 1/3721
1 c.902A>G r.(?) p.(His301Arg) g.114541329A>G Copied from the Exome Variant Server LUZP4_000041 5/10563 5/6728 0/3835
1 c.916A>G r.(?) p.(Thr306Ala) g.114541343A>G Copied from the Exome Variant Server LUZP4_000042 55/10562 0/6727 55/3835
1 c.*23T>A r.(=) p.(=) g.114541392T>A Copied from the Exome Variant Server LUZP4_000043 1/10532 1/6699 0/3833
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