All transcript variants in gene LMAN2L

Information The variants shown are described using the NM_030805.3 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-21G>A r.(=) p.(=) g.97405798C>T Copied from the Exome Variant Server LMAN2L_000073 299/13006 6/8600 293/4406
?/? c.20C>T r.(?) p.(Pro7Leu) g.97405758G>A Copied from the Exome Variant Server LMAN2L_000072 1/13006 1/8600 0/4406
?/? c.22_23insC r.(?) p.(Leu8Profs*87) g.97405755_97405756insG Copied from the Exome Variant Server LMAN2L_000071 1/12520 1/8254 0/4266
?/? c.29C>T r.(?) p.(Ser10Leu) g.97405749G>A Copied from the Exome Variant Server LMAN2L_000069 1/13006 0/8600 1/4406
?/? c.43C>T r.(?) p.(Arg15Trp) g.97405735G>A Copied from the Exome Variant Server LMAN2L_000067 2/13006 2/8600 0/4406
?/? c.49T>C r.(?) p.(Cys17Arg) g.97405729A>G Copied from the Exome Variant Server LMAN2L_000065 1/13006 1/8600 0/4406
?/? c.91_93del r.(?) p.(Leu33del) g.97405685_97405687del Copied from the Exome Variant Server LMAN2L_000070 54/12520 39/8254 15/4266
?/? c.97T>C r.(=) p.(=) g.97405681A>G Copied from the Exome Variant Server LMAN2L_000068 1/13006 1/8600 0/4406
?/? c.107G>T r.(?) p.(Gly36Val) g.97405671C>A Copied from the Exome Variant Server LMAN2L_000066 1/13006 1/8600 0/4406
?/? c.114G>C r.(=) p.(=) g.97405664C>G Copied from the Exome Variant Server LMAN2L_000064 1/13006 1/8600 0/4406
?/? c.147G>A r.(=) p.(=) g.97405631C>T Copied from the Exome Variant Server LMAN2L_000063 1/13006 1/8600 0/4406
?/? c.160G>C r.(?) p.(Glu54Gln) g.97405618C>G Copied from the Exome Variant Server LMAN2L_000062 1/13006 0/8600 1/4406
?/? c.167C>T r.(?) p.(Ser56Leu) g.97405611G>A Copied from the Exome Variant Server LMAN2L_000061 1/13006 1/8600 0/4406
?/? c.183C>T r.(=) p.(=) g.97405595G>A Copied from the Exome Variant Server LMAN2L_000060 1/13006 0/8600 1/4406
?/? c.185A>G r.(?) p.(Gln62Arg) g.97405593T>C Copied from the Exome Variant Server LMAN2L_000059 1/13006 0/8600 1/4406
?/? c.187+12A>G r.(=) p.(=) g.97405579T>C Copied from the Exome Variant Server LMAN2L_000058 4/13006 4/8600 0/4406
?/? c.187+49C>G r.(=) p.(=) g.97405542G>C Copied from the Exome Variant Server LMAN2L_000057 1/13006 1/8600 0/4406
?/? c.188-42T>C r.(=) p.(=) g.97403846A>G Copied from the Exome Variant Server LMAN2L_000056 8/13006 8/8600 0/4406
?/? c.188-31A>G r.(=) p.(=) g.97403835T>C Copied from the Exome Variant Server LMAN2L_000055 2/13006 0/8600 2/4406
?/? c.228C>G r.(=) p.(=) g.97403764G>C Copied from the Exome Variant Server LMAN2L_000054 2/13006 0/8600 2/4406
?/? c.267A>G r.(=) p.(=) g.97403725T>C Copied from the Exome Variant Server LMAN2L_000053 2/13006 0/8600 2/4406
?/? c.306+3A>G r.spl? p.? g.97403683T>C Copied from the Exome Variant Server LMAN2L_000052 1/13006 1/8600 0/4406
?/? c.306+12del r.(=) p.(=) g.97403674del Copied from the Exome Variant Server LMAN2L_000051 20/12520 16/8254 4/4266
?/? c.307-49del r.(=) p.(=) g.97400312del Copied from the Exome Variant Server LMAN2L_000050 5/12516 5/8254 0/4262
?/? c.315C>T r.(=) p.(=) g.97400255G>A Copied from the Exome Variant Server LMAN2L_000049 1/13006 1/8600 0/4406
?/? c.425-39G>A r.(=) p.(=) g.97399377C>T Copied from the Exome Variant Server LMAN2L_000048 17/13006 0/8600 17/4406
?/? c.425-12C>T r.(=) p.(=) g.97399350G>A Copied from the Exome Variant Server LMAN2L_000047 1/13006 1/8600 0/4406
?/? c.507+19G>A r.(=) p.(=) g.97399237C>T Copied from the Exome Variant Server LMAN2L_000046 1/13006 0/8600 1/4406
?/? c.507+20C>T r.(=) p.(=) g.97399236G>A Copied from the Exome Variant Server LMAN2L_000045 1/13006 0/8600 1/4406
?/? c.507+24G>A r.(=) p.(=) g.97399232C>T Copied from the Exome Variant Server LMAN2L_000044 1/13006 0/8600 1/4406
?/? c.507+45A>G r.(=) p.(=) g.97399211T>C Copied from the Exome Variant Server LMAN2L_000043 2/13006 2/8600 0/4406
?/? c.508-1060A>G r.(=) p.(=) g.97378822T>C Copied from the Exome Variant Server LMAN2L_000042 1/4566 1/3182 0/1384
?/? c.508-51C>A r.(=) p.(=) g.97377813G>T Copied from the Exome Variant Server LMAN2L_000041 23/13006 21/8600 2/4406
?/? c.508-50G>A r.(=) p.(=) g.97377812C>T Copied from the Exome Variant Server LMAN2L_000040 3/13006 3/8600 0/4406
?/? c.508-39C>T r.(=) p.(=) g.97377801G>A Copied from the Exome Variant Server LMAN2L_000039 1/13006 0/8600 1/4406
?/? c.508-16C>A r.(=) p.(=) g.97377778G>T Copied from the Exome Variant Server LMAN2L_000038 3/13006 3/8600 0/4406
?/? c.508-15del r.(=) p.(=) g.97377777del Copied from the Exome Variant Server LMAN2L_000037 2/12520 1/8254 1/4266
?/? c.509G>A r.(?) p.(Arg170Gln) g.97377761C>T Copied from the Exome Variant Server LMAN2L_000036 1/13006 1/8600 0/4406
?/? c.515T>C r.(?) p.(Phe172Ser) g.97377755A>G Copied from the Exome Variant Server LMAN2L_000035 1/13006 1/8600 0/4406
?/? c.518C>G r.(?) p.(Pro173Arg) g.97377752G>C Copied from the Exome Variant Server LMAN2L_000034 1/13006 1/8600 0/4406
?/? c.557A>G r.(?) p.(Tyr186Cys) g.97377713T>C Copied from the Exome Variant Server LMAN2L_000033 1/13006 0/8600 1/4406
?/? c.558T>C r.(=) p.(=) g.97377712A>G Copied from the Exome Variant Server LMAN2L_000032 2/13006 2/8600 0/4406
?/? c.568C>T r.(?) p.(Arg190Trp) g.97377702G>A Copied from the Exome Variant Server LMAN2L_000031 1/13006 0/8600 1/4406
?/? c.569G>A r.(?) p.(Arg190Gln) g.97377701C>T Copied from the Exome Variant Server LMAN2L_000030 1/13006 1/8600 0/4406
?/? c.578G>A r.(?) p.(Arg193Gln) g.97377692C>T Copied from the Exome Variant Server LMAN2L_000029 1/13006 1/8600 0/4406
?/? c.617A>G r.(?) p.(Asn206Ser) g.97377653T>C Copied from the Exome Variant Server LMAN2L_000028 1/13006 0/8600 1/4406
?/? c.627C>T r.(=) p.(=) g.97377643G>A Copied from the Exome Variant Server LMAN2L_000027 1/13006 0/8600 1/4406
?/? c.647G>A r.(?) p.(Arg216His) g.97377623C>T Copied from the Exome Variant Server LMAN2L_000026 1/13006 1/8600 0/4406
?/? c.668C>T r.(?) p.(Thr223Met) g.97377602G>A Copied from the Exome Variant Server LMAN2L_000024 1/13006 1/8600 0/4406
?/? c.669+37G>T r.(=) p.(=) g.97377564C>A Copied from the Exome Variant Server LMAN2L_000022 2/13006 2/8600 0/4406
?/? c.713T>C r.(?) p.(Ile238Thr) g.97377464A>G Copied from the Exome Variant Server LMAN2L_000020 1/13006 1/8600 0/4406
?/? c.724G>A r.(?) p.(Gly242Arg) g.97377453C>T Copied from the Exome Variant Server LMAN2L_000019 1/13006 0/8600 1/4406
?/? c.731G>A r.(?) p.(Arg244His) g.97377446C>T Copied from the Exome Variant Server LMAN2L_000017 1/13006 1/8600 0/4406
?/? c.758C>T r.(?) p.(Thr253Ile) g.97377419G>A Copied from the Exome Variant Server LMAN2L_000015 1/13006 1/8600 0/4406
?/? c.766A>G r.(?) p.(Ile256Val) g.97377411T>C Copied from the Exome Variant Server LMAN2L_000013 1/13006 0/8600 1/4406
?/? c.784+10C>T r.(=) p.(=) g.97377383G>A Copied from the Exome Variant Server LMAN2L_000011 283/13006 1/8600 282/4406
?/? c.784+12C>T r.(=) p.(=) g.97377381G>A Copied from the Exome Variant Server LMAN2L_000025 21/13006 1/8600 20/4406
?/? c.784+13G>A r.(=) p.(=) g.97377380C>T Copied from the Exome Variant Server LMAN2L_000023 1/13006 0/8600 1/4406
?/? c.784+26G>T r.(=) p.(=) g.97377367C>A Copied from the Exome Variant Server LMAN2L_000021 2/13006 1/8600 1/4406
?/? c.793G>A r.(?) p.(Asp265Asn) g.97373562C>T Copied from the Exome Variant Server LMAN2L_000018 1/13006 0/8600 1/4406
?/? c.795T>C r.(=) p.(=) g.97373560A>G Copied from the Exome Variant Server LMAN2L_000016 1/13006 0/8600 1/4406
?/? c.904+16C>T r.(=) p.(=) g.97373435G>A Copied from the Exome Variant Server LMAN2L_000014 2/13006 1/8600 1/4406
?/? c.904+17G>A r.(=) p.(=) g.97373434C>T Copied from the Exome Variant Server LMAN2L_000012 19/13006 3/8600 16/4406
?/? c.904+18C>A r.(=) p.(=) g.97373433G>T Copied from the Exome Variant Server LMAN2L_000010 1/13006 1/8600 0/4406
?/? c.904+27G>C r.(=) p.(=) g.97373424C>G Copied from the Exome Variant Server LMAN2L_000009 1/13006 0/8600 1/4406
?/? c.905-49A>C r.(=) p.(=) g.97373184T>G Copied from the Exome Variant Server LMAN2L_000008 2/12990 0/8596 2/4394
?/? c.905-25A>G r.(=) p.(=) g.97373160T>C Copied from the Exome Variant Server LMAN2L_000007 1/12996 1/8598 0/4398
?/? c.971T>G r.(?) p.(Phe324Cys) g.97373069A>C Copied from the Exome Variant Server LMAN2L_000006 1/13006 1/8600 0/4406
?/? c.976G>A r.(?) p.(Val326Ile) g.97373064C>T Copied from the Exome Variant Server LMAN2L_000005 2/13006 2/8600 0/4406
?/? c.1030C>T r.(?) p.(Arg344*) g.97373010G>A Copied from the Exome Variant Server LMAN2L_000004 1/13006 1/8600 0/4406
?/? c.1037G>A r.(?) p.(Arg346His) g.97373003C>T Copied from the Exome Variant Server LMAN2L_000003 1/13006 0/8600 1/4406
?/? c.*5T>G r.(=) p.(=) g.97372988A>C Copied from the Exome Variant Server LMAN2L_000002 1/13006 0/8600 1/4406
?/? c.*17C>G r.(=) p.(=) g.97372976G>C Copied from the Exome Variant Server LMAN2L_000001 1/13006 1/8600 0/4406
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