Unique variants in gene MSL3

Information The variants shown are described using the NM_006800.3 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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.-1934G>T r.(=) p.(=) g.11776374G>T Copied from the Exome Variant Server MSL3_000001 2/10477 0/6688 2/3789
1 c.-1921G>C r.(=) p.(=) g.11776387G>C Copied from the Exome Variant Server MSL3_000002 4/10522 3/6709 1/3813
1 c.-1896A>G r.(=) p.(=) g.11776412A>G Copied from the Exome Variant Server MSL3_000003 1/10549 0/6722 1/3827
1 c.-1817C>T r.(=) p.(=) g.11776491C>T Copied from the Exome Variant Server MSL3_000004 2/10530 0/6715 2/3815
1 c.-314+50A>G r.(=) p.(=) g.11778044A>G Copied from the Exome Variant Server MSL3_000005 1/10563 0/6728 1/3835
1 c.-313-51G>T r.(=) p.(=) g.11778471G>T Copied from the Exome Variant Server MSL3_000006 2795/10563 1064/6728 1731/3835
1 c.-271C>T r.(=) p.(=) g.11778564C>T Copied from the Exome Variant Server MSL3_000007 1/10563 1/6728 0/3835
1 c.-207G>A r.(=) p.(=) g.11778966G>A Copied from the Exome Variant Server MSL3_000008 1/10559 0/6727 1/3832
1 c.-195A>C r.(=) p.(=) g.11778978A>C Copied from the Exome Variant Server MSL3_000009 1/10561 1/6728 0/3833
1 c.-117+28G>A r.(=) p.(=) g.11779084G>A Copied from the Exome Variant Server MSL3_000010 1/10551 1/6720 0/3831
1 c.-116-22C>T r.(=) p.(=) g.11779597C>T Copied from the Exome Variant Server MSL3_000011 2/10563 1/6728 1/3835
1 c.-111A>C r.(=) p.(=) g.11779624A>C Copied from the Exome Variant Server MSL3_000012 1/10563 0/6728 1/3835
1 c.-103C>T r.(=) p.(=) g.11779632C>T Copied from the Exome Variant Server MSL3_000013 394/10563 1/6728 393/3835
1 c.-98A>G r.(=) p.(=) g.11779637A>G Copied from the Exome Variant Server MSL3_000014 1/10563 0/6728 1/3835
1 c.-34+6A>G r.(=) p.(=) g.11779707A>G Copied from the Exome Variant Server MSL3_000015 1/10562 1/6727 0/3835
1 c.-33-52A>T r.(=) p.(=) g.11780197A>T Copied from the Exome Variant Server MSL3_000016 3/4525 0/3107 3/1418
1 c.-33-33_-33-30del r.(=) p.(=) g.11780216_11780219del Copied from the Exome Variant Server MSL3_000017 6/10177 5/6474 1/3703
1 c.-33-32A>G r.(=) p.(=) g.11780217A>G Copied from the Exome Variant Server MSL3_000018 1/10549 1/6722 0/3827
1 c.-21G>A r.(=) p.(=) g.11780261G>A Copied from the Exome Variant Server MSL3_000019 1/10560 1/6727 0/3833
1 c.-4G>A r.(=) p.(=) g.11780278G>A Copied from the Exome Variant Server MSL3_000020 1/10563 0/6728 1/3835
1 c.73A>G r.(?) p.(Ile25Val) g.11780354A>G Copied from the Exome Variant Server MSL3_000021 1/10562 0/6727 1/3835
1 c.90+6T>C r.(=) p.(=) g.11780377T>C Copied from the Exome Variant Server MSL3_000022 1/10563 0/6728 1/3835
1 c.90+35T>G r.(=) p.(=) g.11780406T>G Copied from the Exome Variant Server MSL3_000023 1/10563 0/6728 1/3835
1 c.201C>T r.(=) p.(=) g.11781066C>T Copied from the Exome Variant Server MSL3_000024 1/10563 1/6728 0/3835
1 c.234T>C r.(=) p.(=) g.11781099T>C Copied from the Exome Variant Server MSL3_000025 1/10563 0/6728 1/3835
1 c.237C>A r.(=) p.(=) g.11781102C>A Copied from the Exome Variant Server MSL3_000026 25/10563 0/6728 25/3835
1 c.270G>A r.(=) p.(=) g.11781917G>A Copied from the Exome Variant Server MSL3_000027 1/10563 1/6728 0/3835
1 c.312G>A r.(=) p.(=) g.11781959G>A Copied from the Exome Variant Server MSL3_000028 1/10563 0/6728 1/3835
1 c.316G>C r.(?) p.(Val106Leu) g.11781963G>C Copied from the Exome Variant Server MSL3_000029 1/10563 1/6728 0/3835
1 c.403A>G r.(?) p.(Thr135Ala) g.11782050A>G Copied from the Exome Variant Server MSL3_000030 1/10563 0/6728 1/3835
1 c.411-5C>T r.spl? p.? g.11783581C>T Copied from the Exome Variant Server MSL3_000031 1/10563 1/6728 0/3835
1 c.417G>A r.(=) p.(=) g.11783592G>A Copied from the Exome Variant Server MSL3_000032 1/10563 1/6728 0/3835
1 c.438G>A r.(=) p.(=) g.11783613G>A Copied from the Exome Variant Server MSL3_000033 1/10563 1/6728 0/3835
1 c.482C>T r.(?) p.(Pro161Leu) g.11783657C>T Copied from the Exome Variant Server MSL3_000034 1/10563 0/6728 1/3835
1 c.483G>A r.(=) p.(=) g.11783658G>A Copied from the Exome Variant Server MSL3_000035 6/10563 6/6728 0/3835
1 c.504C>A r.(=) p.(=) g.11783679C>A Copied from the Exome Variant Server MSL3_000036 2/10563 0/6728 2/3835
1 c.520G>T r.(?) p.(Ala174Ser) g.11783695G>T Copied from the Exome Variant Server MSL3_000037 17/10563 15/6728 2/3835
1 c.558G>A r.(=) p.(=) g.11783733G>A Copied from the Exome Variant Server MSL3_000038 1/10563 0/6728 1/3835
1 c.596G>A r.(?) p.(Ser199Asn) g.11783771G>A Copied from the Exome Variant Server MSL3_000039 14/10563 12/6728 2/3835
1 c.597C>T r.(=) p.(=) g.11783772C>T Copied from the Exome Variant Server MSL3_000040 52/10563 0/6728 52/3835
1 c.627G>A r.(=) p.(=) g.11783802G>A Copied from the Exome Variant Server MSL3_000041 1/10563 1/6728 0/3835
1 c.629A>G r.(?) p.(Asp210Gly) g.11783804A>G Copied from the Exome Variant Server MSL3_000042 1/10563 0/6728 1/3835
1 c.636C>T r.(=) p.(=) g.11783811C>T Copied from the Exome Variant Server MSL3_000043 2/10563 0/6728 2/3835
1 c.638C>T r.(?) p.(Ala213Val) g.11783813C>T Copied from the Exome Variant Server MSL3_000044 1/10563 1/6728 0/3835
1 c.673+28C>T r.(=) p.(=) g.11783876C>T Copied from the Exome Variant Server MSL3_000045 2/10563 0/6728 2/3835
1 c.673+29G>A r.(=) p.(=) g.11783877G>A Copied from the Exome Variant Server MSL3_000046 1/10563 1/6728 0/3835
1 c.673+46A>C r.(=) p.(=) g.11783894A>C Copied from the Exome Variant Server MSL3_000047 1/10563 1/6728 0/3835
1 c.673+73G>C r.(=) p.(=) g.11783921G>C Copied from the Exome Variant Server MSL3_000048 1/10563 0/6728 1/3835
1 c.673+106G>A r.(=) p.(=) g.11783954G>A Copied from the Exome Variant Server MSL3_000049 1/10563 1/6728 0/3835
1 c.673+117A>G r.(=) p.(=) g.11783965A>G Copied from the Exome Variant Server MSL3_000050 2/10563 0/6728 2/3835
1 c.767C>T r.(?) p.(Thr256Ile) g.11786785C>T Copied from the Exome Variant Server MSL3_000051 1/10563 0/6728 1/3835
1 c.783+38T>C r.(=) p.(=) g.11786839T>C Copied from the Exome Variant Server MSL3_000052 8985/10563 5283/6728 3702/3835
1 c.784-18A>G r.(=) p.(=) g.11790257A>G Copied from the Exome Variant Server MSL3_000053 1/10563 1/6728 0/3835
1 c.784-13G>A r.(=) p.(=) g.11790262G>A Copied from the Exome Variant Server MSL3_000054 4/10563 1/6728 3/3835
1 c.821C>T r.(?) p.(Pro274Leu) g.11790312C>T Copied from the Exome Variant Server MSL3_000055 2/10563 0/6728 2/3835
1 c.859G>A r.(?) p.(Ala287Thr) g.11790350G>A Copied from the Exome Variant Server MSL3_000057 1/10563 1/6728 0/3835
1 c.860C>G r.(?) p.(Ala287Gly) g.11790351C>G Copied from the Exome Variant Server MSL3_000060 3/10563 0/6728 3/3835
1 c.883+45T>C r.(=) p.(=) g.11790419T>C Copied from the Exome Variant Server MSL3_000062 1/10563 1/6728 0/3835
1 c.884-3C>T r.spl? p.? g.11790737C>T Copied from the Exome Variant Server MSL3_000064 50/10563 0/6728 50/3835
1 c.968+13T>C r.(=) p.(=) g.11790837T>C Copied from the Exome Variant Server MSL3_000056 299/10560 1/6725 298/3835
1 c.969-14del r.(=) p.(=) g.11793085del Copied from the Exome Variant Server MSL3_000059 276/10204 173/6483 103/3721
1 c.969-14dup r.(=) p.(=) g.11793085dup Copied from the Exome Variant Server MSL3_000058 209/10204 125/6483 84/3721
1 c.1008G>A r.(=) p.(=) g.11793138G>A Copied from the Exome Variant Server MSL3_000061 126/10563 1/6728 125/3835
1 c.1054C>T r.(?) p.(Arg352Trp) g.11793184C>T Copied from the Exome Variant Server MSL3_000063 2/10563 0/6728 2/3835
1 c.*45G>A r.(=) p.(=) g.11793243G>A Copied from the Exome Variant Server MSL3_000065 1/10563 0/6728 1/3835
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