Full data view for gene LAS1L

Information The variants shown are described using the NM_031206.4 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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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.-49T>C r.(=) p.(=) g.64754644A>G Copied from the Exome Variant Server LAS1L_000059 73/9586 68/6069 5/3517 - - - - - - -
?/? c.-30C>T r.(=) p.(=) g.64754625G>A Copied from the Exome Variant Server LAS1L_000058 4/9941 0/6305 4/3636 - - - - - - -
?/? c.-28C>T r.(=) p.(=) g.64754623G>A Copied from the Exome Variant Server LAS1L_000057 4/9979 0/6325 4/3654 - - - - - - -
?/? c.-6C>T r.(=) p.(=) g.64754601G>A Copied from the Exome Variant Server LAS1L_000056 1/10307 1/6555 0/3752 - - - - - - -
?/? c.5C>T r.(?) p.(Ser2Leu) g.64754591G>A Copied from the Exome Variant Server LAS1L_000055 11/10372 0/6589 11/3783 - - - - - - -
?/? c.21C>T r.(=) p.(=) g.64754575G>A Copied from the Exome Variant Server LAS1L_000054 1/10458 1/6657 0/3801 - - - - - - -
?/? c.28G>A r.(?) p.(Gly10Ser) g.64754568C>T Copied from the Exome Variant Server LAS1L_000053 2/10487 0/6676 2/3811 - - - - - - -
?/? c.132C>T r.(=) p.(=) g.64754464G>A Copied from the Exome Variant Server LAS1L_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.139A>G r.(?) p.(Ser47Gly) g.64754457T>C Copied from the Exome Variant Server LAS1L_000051 1/10562 0/6727 1/3835 - - - - - - -
?/? c.159G>A r.(=) p.(=) g.64754437C>T Copied from the Exome Variant Server LAS1L_000050 2/10563 0/6728 2/3835 - - - - - - -
?/? c.192G>A r.(=) p.(=) g.64754404C>T Copied from the Exome Variant Server LAS1L_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.222G>A r.(=) p.(=) g.64754374C>T Copied from the Exome Variant Server LAS1L_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.236+34G>T r.(=) p.(=) g.64754326C>A Copied from the Exome Variant Server LAS1L_000047 1/10519 1/6696 0/3823 - - - - - - -
?/? c.236+43G>A r.(=) p.(=) g.64754317C>T Copied from the Exome Variant Server LAS1L_000046 1/10482 1/6678 0/3804 - - - - - - -
?/? c.363-41G>A r.(=) p.(=) g.64752551C>T Copied from the Exome Variant Server LAS1L_000045 27/10563 0/6728 27/3835 - - - - - - -
?/? c.433-19C>T r.(=) p.(=) g.64751337G>A Copied from the Exome Variant Server LAS1L_000044 3/10563 3/6728 0/3835 - - - - - - -
?/? c.433-11C>A r.(=) p.(=) g.64751329G>T Copied from the Exome Variant Server LAS1L_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.515-8C>G r.(=) p.(=) g.64749766G>C Copied from the Exome Variant Server LAS1L_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.585G>T r.(?) p.(Glu195Asp) g.64749688C>A Copied from the Exome Variant Server LAS1L_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.593A>G r.(?) p.(Glu198Gly) g.64749680T>C Copied from the Exome Variant Server LAS1L_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.708G>A r.(=) p.(=) g.64749565C>T Copied from the Exome Variant Server LAS1L_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.748G>A r.(?) p.(Glu250Lys) g.64749525C>T Copied from the Exome Variant Server LAS1L_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.765T>C r.(=) p.(=) g.64749508A>G Copied from the Exome Variant Server LAS1L_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.799+39A>C r.(=) p.(=) g.64749435T>G Copied from the Exome Variant Server LAS1L_000036 1/10558 1/6726 0/3832 - - - - - - -
?/? c.800-47A>G r.(=) p.(=) g.64749185T>C Copied from the Exome Variant Server LAS1L_000035 12/10563 0/6728 12/3835 - - - - - - -
?/? c.940G>A r.(?) p.(Val314Ile) g.64748156C>T Copied from the Exome Variant Server LAS1L_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.957-39C>A r.(=) p.(=) g.64744969G>T Copied from the Exome Variant Server LAS1L_000033 1/10562 1/6728 0/3834 - - - - - - -
?/? c.957-36G>C r.(=) p.(=) g.64744966C>G Copied from the Exome Variant Server LAS1L_000032 1/10562 1/6728 0/3834 - - - - - - -
?/? c.1002C>T r.(=) p.(=) g.64744885G>A Copied from the Exome Variant Server LAS1L_000031 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1093+51A>C r.(=) p.(=) g.64744393T>G Copied from the Exome Variant Server LAS1L_000030 1/6038 1/3621 0/2417 - - - - - - -
?/? c.1094-45T>G r.(=) p.(=) g.64744187A>C Copied from the Exome Variant Server LAS1L_000029 1/10538 1/6714 0/3824 - - - - - - -
?/? c.1094-44C>G r.(=) p.(=) g.64744186G>C Copied from the Exome Variant Server LAS1L_000028 27/10538 25/6714 2/3824 - - - - - - -
?/? c.1098C>T r.(=) p.(=) g.64744138G>A Copied from the Exome Variant Server LAS1L_000027 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1114G>A r.(?) p.(Val372Ile) g.64744122C>T Copied from the Exome Variant Server LAS1L_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1185G>A r.(=) p.(=) g.64744051C>T Copied from the Exome Variant Server LAS1L_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1209C>G r.(=) p.(=) g.64744027G>C Copied from the Exome Variant Server LAS1L_000024 10/10563 0/6728 10/3835 - - - - - - -
?/? c.1248T>A r.(=) p.(=) g.64743988A>T Copied from the Exome Variant Server LAS1L_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1269C>T r.(=) p.(=) g.64743967G>A Copied from the Exome Variant Server LAS1L_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1300+9G>A r.(=) p.(=) g.64743927C>T Copied from the Exome Variant Server LAS1L_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1300+21C>T r.(=) p.(=) g.64743915G>A Copied from the Exome Variant Server LAS1L_000020 1/10560 1/6726 0/3834 - - - - - - -
?/? c.1300+46A>T r.(=) p.(=) g.64743890T>A Copied from the Exome Variant Server LAS1L_000019 1/10548 0/6717 1/3831 - - - - - - -
?/? c.1594C>T r.(=) p.(=) g.64738200G>A Copied from the Exome Variant Server LAS1L_000018 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1615G>A r.(?) p.(Val539Ile) g.64738179C>T Copied from the Exome Variant Server LAS1L_000017 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1691T>C r.(?) p.(Val564Ala) g.64738103A>G Copied from the Exome Variant Server LAS1L_000016 21/10563 0/6728 21/3835 - - - - - - -
?/? c.1735G>A r.(?) p.(Val579Ile) g.64738059C>T Copied from the Exome Variant Server LAS1L_000015 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1791_1793del r.(?) p.(Asp597del) g.64738001_64738003del Copied from the Exome Variant Server LAS1L_000014 31/10205 7/6484 24/3721 - - - - - - -
?/? c.1794A>T r.(?) p.(Glu598Asp) g.64738000T>A Copied from the Exome Variant Server LAS1L_000013 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1800_1802del r.(?) p.(Asp600del) g.64737992_64737994del Copied from the Exome Variant Server LAS1L_000012 20/10205 9/6484 11/3721 - - - - - - -
?/? c.1797_1805del r.(?) p.(Asp599_Glu601del) g.64737989_64737997del Copied from the Exome Variant Server LAS1L_000011 7/10205 7/6484 0/3721 - - - - - - -
?/? c.1860C>T r.(=) p.(=) g.64737934G>A Copied from the Exome Variant Server LAS1L_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1892G>A r.(?) p.(Gly631Glu) g.64737902C>T Copied from the Exome Variant Server LAS1L_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1911A>G r.(=) p.(=) g.64737883T>C Copied from the Exome Variant Server LAS1L_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1933G>A r.(?) p.(Val645Met) g.64734848C>T Copied from the Exome Variant Server LAS1L_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1970G>A r.(?) p.(Gly657Asp) g.64734811C>T Copied from the Exome Variant Server LAS1L_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2061C>G r.(=) p.(=) g.64734720G>C Copied from the Exome Variant Server LAS1L_000005 3/10563 3/6728 0/3835 - - - - - - -
?/? c.2136C>G r.(?) p.(Ser712Arg) g.64732724G>C Copied from the Exome Variant Server LAS1L_000004 1/9926 0/6305 1/3621 - - - - - - -
?/? c.2148C>G r.(=) p.(=) g.64732712G>C Copied from the Exome Variant Server LAS1L_000003 1/10085 1/6411 0/3674 - - - - - - -
?/? c.2173C>T r.(?) p.(His725Tyr) g.64732687G>A Copied from the Exome Variant Server LAS1L_000002 1/10236 1/6512 0/3724 - - - - - - -
?/? c.*3G>T r.(=) p.(=) g.64732652C>A Copied from the Exome Variant Server LAS1L_000001 2/10337 2/6582 0/3755 - - - - - - -
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