Full data view for gene LMAN1L

Information The variants shown are described using the NM_021819.2 transcript reference sequence.

122 entries on 2 pages. Showing entries 1 - 100.
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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.5C>T r.(?) p.(Pro2Leu) g.75105200C>T Copied from the Exome Variant Server LMAN1L_000001 1/12986 1/8592 0/4394 - - - - - - -
?/? c.29T>C r.(?) p.(Leu10Ser) g.75105224T>C Copied from the Exome Variant Server LMAN1L_000002 1/12986 0/8592 1/4394 - - - - - - -
?/? c.59C>G r.(?) p.(Pro20Arg) g.75105254C>G Copied from the Exome Variant Server LMAN1L_000003 1/12986 0/8592 1/4394 - - - - - - -
?/? c.78G>C r.(=) p.(=) g.75105273G>C Copied from the Exome Variant Server LMAN1L_000004 1/12986 1/8592 0/4394 - - - - - - -
?/? c.92G>A r.(?) p.(Arg31His) g.75105287G>A Copied from the Exome Variant Server LMAN1L_000005 5/12986 0/8592 5/4394 - - - - - - -
?/? c.145G>A r.(?) p.(Ala49Thr) g.75105340G>A Copied from the Exome Variant Server LMAN1L_000006 1/12986 1/8592 0/4394 - - - - - - -
?/? c.162G>A r.(?) p.(Trp54*) g.75105357G>A Copied from the Exome Variant Server LMAN1L_000007 1/12986 1/8592 0/4394 - - - - - - -
?/? c.175+32C>T r.(=) p.(=) g.75105402C>T Copied from the Exome Variant Server LMAN1L_000008 1/12986 1/8592 0/4394 - - - - - - -
?/? c.175+35G>C r.(=) p.(=) g.75105405G>C Copied from the Exome Variant Server LMAN1L_000009 1/12986 1/8592 0/4394 - - - - - - -
?/? c.176-35G>A r.(=) p.(=) g.75108463G>A Copied from the Exome Variant Server LMAN1L_000010 8/12072 0/7990 8/4082 - - - - - - -
?/? c.230G>C r.(?) p.(Ser77Thr) g.75108552G>C Copied from the Exome Variant Server LMAN1L_000011 1/12906 1/8550 0/4356 - - - - - - -
?/? c.279A>G r.(=) p.(=) g.75108601A>G Copied from the Exome Variant Server LMAN1L_000012 1/12974 1/8590 0/4384 - - - - - - -
?/? c.289A>G r.(?) p.(Met97Val) g.75108611A>G Copied from the Exome Variant Server LMAN1L_000013 1/12982 1/8592 0/4390 - - - - - - -
?/? c.305T>G r.(?) p.(Leu102Arg) g.75108627T>G Copied from the Exome Variant Server LMAN1L_000014 2/12982 0/8592 2/4390 - - - - - - -
?/? c.314G>A r.(?) p.(Arg105Gln) g.75108636G>A Copied from the Exome Variant Server LMAN1L_000015 517/12984 326/8592 191/4392 - - - - - - -
?/? c.330+25C>T r.(=) p.(=) g.75108677C>T Copied from the Exome Variant Server LMAN1L_000016 1/12986 0/8592 1/4394 - - - - - - -
?/? c.330+30C>T r.(=) p.(=) g.75108682C>T Copied from the Exome Variant Server LMAN1L_000017 1/12978 1/8588 0/4390 - - - - - - -
?/? c.330+31G>C r.(=) p.(=) g.75108683G>C Copied from the Exome Variant Server LMAN1L_000018 17/12980 15/8590 2/4390 - - - - - - -
?/? c.330+48C>T r.(=) p.(=) g.75108700C>T Copied from the Exome Variant Server LMAN1L_000019 4/12982 0/8592 4/4390 - - - - - - -
?/? c.334G>A r.(?) p.(Val112Met) g.75108771G>A Copied from the Exome Variant Server LMAN1L_000020 1/12986 0/8592 1/4394 - - - - - - -
?/? c.345C>G r.(=) p.(=) g.75108782C>G Copied from the Exome Variant Server LMAN1L_000021 1/12986 1/8592 0/4394 - - - - - - -
?/? c.366C>T r.(=) p.(=) g.75108803C>T Copied from the Exome Variant Server LMAN1L_000022 1/12986 0/8592 1/4394 - - - - - - -
?/? c.377G>C r.(?) p.(Gly126Ala) g.75108814G>C Copied from the Exome Variant Server LMAN1L_000023 2/12986 0/8592 2/4394 - - - - - - -
?/? c.438+11G>C r.(=) p.(=) g.75108886G>C Copied from the Exome Variant Server LMAN1L_000024 1/12986 1/8592 0/4394 - - - - - - -
?/? c.438+37C>G r.(=) p.(=) g.75108912C>G Copied from the Exome Variant Server LMAN1L_000025 16/12986 0/8592 16/4394 - - - - - - -
?/? c.438+48_438+49insC r.(=) p.(=) g.75108923_75108924insC Copied from the Exome Variant Server LMAN1L_000026 8/12516 7/8254 1/4262 - - - - - - -
?/? c.439-33C>G r.(=) p.(=) g.75108940C>G Copied from the Exome Variant Server LMAN1L_000027 1/12986 1/8592 0/4394 - - - - - - -
?/? c.439-30C>T r.(=) p.(=) g.75108943C>T Copied from the Exome Variant Server LMAN1L_000028 1/12986 1/8592 0/4394 - - - - - - -
?/? c.439-25C>G r.(=) p.(=) g.75108948C>G Copied from the Exome Variant Server LMAN1L_000029 1/12986 0/8592 1/4394 - - - - - - -
?/? c.439-11C>T r.(=) p.(=) g.75108962C>T Copied from the Exome Variant Server LMAN1L_000030 2/12986 2/8592 0/4394 - - - - - - -
?/? c.498-52C>T r.(=) p.(=) g.75111007C>T Copied from the Exome Variant Server LMAN1L_000031 15/5620 15/3926 0/1694 - - - - - - -
?/? c.498-42G>A r.(=) p.(=) g.75111017G>A Copied from the Exome Variant Server LMAN1L_000032 2/12938 2/8566 0/4372 - - - - - - -
?/? c.537C>T r.(=) p.(=) g.75111098C>T Copied from the Exome Variant Server LMAN1L_000033 12/12986 0/8592 12/4394 - - - - - - -
?/? c.568C>T r.(?) p.(Arg190Trp) g.75111129C>T Copied from the Exome Variant Server LMAN1L_000034 1/12986 1/8592 0/4394 - - - - - - -
?/? c.569G>A r.(?) p.(Arg190Gln) g.75111130G>A Copied from the Exome Variant Server LMAN1L_000035 1/12986 0/8592 1/4394 - - - - - - -
?/? c.591G>A r.(=) p.(=) g.75111152G>A Copied from the Exome Variant Server LMAN1L_000036 352/12984 1/8592 351/4392 - - - - - - -
?/? c.595C>T r.(?) p.(Arg199Cys) g.75111156C>T Copied from the Exome Variant Server LMAN1L_000037 3/12982 0/8590 3/4392 - - - - - - -
?/? c.596G>T r.(?) p.(Arg199Leu) g.75111157G>T Copied from the Exome Variant Server LMAN1L_000038 1/12984 0/8590 1/4394 - - - - - - -
?/? c.597+3G>C r.spl? p.? g.75111161G>C Copied from the Exome Variant Server LMAN1L_000039 1/12986 1/8592 0/4394 - - - - - - -
?/? c.597+23G>C r.(=) p.(=) g.75111181G>C Copied from the Exome Variant Server LMAN1L_000040 2/12982 2/8590 0/4392 - - - - - - -
?/? c.597+26A>G r.(=) p.(=) g.75111184A>G Copied from the Exome Variant Server LMAN1L_000041 1/12978 0/8586 1/4392 - - - - - - -
?/? c.598-52G>A r.(=) p.(=) g.75111441G>A Copied from the Exome Variant Server LMAN1L_000042 2/5734 0/3982 2/1752 - - - - - - -
?/? c.598-35_598-34insC r.(=) p.(=) g.75111458_75111459insC Copied from the Exome Variant Server LMAN1L_000043 18/12518 6/8254 12/4264 - - - - - - -
?/? c.598-34C>G r.(=) p.(=) g.75111459C>G Copied from the Exome Variant Server LMAN1L_000044 2/12986 1/8592 1/4394 - - - - - - -
?/? c.598-29C>G r.(=) p.(=) g.75111464C>G Copied from the Exome Variant Server LMAN1L_000045 14/12986 11/8592 3/4394 - - - - - - -
?/? c.619A>C r.(?) p.(Thr207Pro) g.75111514A>C Copied from the Exome Variant Server LMAN1L_000046 26/12986 0/8592 26/4394 - - - - - - -
?/? c.635G>A r.(?) p.(Gly212Asp) g.75111530G>A Copied from the Exome Variant Server LMAN1L_000047 1015/12986 6/8592 1009/4394 - - - - - - -
?/? c.680G>A r.(?) p.(Gly227Asp) g.75111575G>A Copied from the Exome Variant Server LMAN1L_000048 1/12986 1/8592 0/4394 - - - - - - -
?/? c.690G>A r.(=) p.(=) g.75111585G>A Copied from the Exome Variant Server LMAN1L_000049 1/12986 0/8592 1/4394 - - - - - - -
?/? c.711C>A r.(=) p.(=) g.75111606C>A Copied from the Exome Variant Server LMAN1L_000050 4/12986 4/8592 0/4394 - - - - - - -
?/? c.719-48G>A r.(=) p.(=) g.75112337G>A Copied from the Exome Variant Server LMAN1L_000051 1/12986 0/8592 1/4394 - - - - - - -
?/? c.719-25T>C r.(=) p.(=) g.75112360T>C Copied from the Exome Variant Server LMAN1L_000052 3/12986 2/8592 1/4394 - - - - - - -
?/? c.765C>T r.(=) p.(=) g.75112431C>T Copied from the Exome Variant Server LMAN1L_000053 1/12986 0/8592 1/4394 - - - - - - -
?/? c.774+3G>A r.spl? p.? g.75112443G>A Copied from the Exome Variant Server LMAN1L_000054 1/12986 0/8592 1/4394 - - - - - - -
?/? c.774+19T>A r.(=) p.(=) g.75112459T>A Copied from the Exome Variant Server LMAN1L_000055 38/12986 0/8592 38/4394 - - - - - - -
?/? c.775-17C>T r.(=) p.(=) g.75112959C>T Copied from the Exome Variant Server LMAN1L_000056 27/12984 24/8590 3/4394 - - - - - - -
?/? c.775-15G>C r.(=) p.(=) g.75112961G>C Copied from the Exome Variant Server LMAN1L_000057 11/12984 9/8590 2/4394 - - - - - - -
?/? c.775-2A>G r.spl? p.? g.75112974A>G Copied from the Exome Variant Server LMAN1L_000058 22/12982 19/8590 3/4392 - - - - - - -
?/? c.810C>T r.(=) p.(=) g.75113011C>T Copied from the Exome Variant Server LMAN1L_000059 11/12986 0/8592 11/4394 - - - - - - -
?/? c.811C>T r.(?) p.(Arg271Cys) g.75113012C>T Copied from the Exome Variant Server LMAN1L_000060 1/12986 0/8592 1/4394 - - - - - - -
?/? c.822G>A r.(=) p.(=) g.75113023G>A Copied from the Exome Variant Server LMAN1L_000061 324/12986 292/8592 32/4394 - - - - - - -
?/? c.824A>C r.(?) p.(Gln275Pro) g.75113025A>C Copied from the Exome Variant Server LMAN1L_000062 2/12986 0/8592 2/4394 - - - - - - -
?/? c.839G>A r.(?) p.(Trp280*) g.75113040G>A Copied from the Exome Variant Server LMAN1L_000063 2/12986 1/8592 1/4394 - - - - - - -
?/? c.879_880del r.(?) p.(Lys294Ilefs*4) g.75113080_75113081del Copied from the Exome Variant Server LMAN1L_000064 1/12518 1/8254 0/4264 - - - - - - -
?/? c.882A>G r.(=) p.(=) g.75113083A>G Copied from the Exome Variant Server LMAN1L_000065 1932/12986 336/8592 1596/4394 - - - - - - -
?/? c.895G>A r.(?) p.(Ala299Thr) g.75113096G>A Copied from the Exome Variant Server LMAN1L_000066 1/12986 1/8592 0/4394 - - - - - - -
?/? c.907+9C>T r.(=) p.(=) g.75113117C>T Copied from the Exome Variant Server LMAN1L_000067 1/12986 0/8592 1/4394 - - - - - - -
?/? c.907+28C>T r.(=) p.(=) g.75113136C>T Copied from the Exome Variant Server LMAN1L_000068 3/12986 1/8592 2/4394 - - - - - - -
?/? c.907+29G>A r.(=) p.(=) g.75113137G>A Copied from the Exome Variant Server LMAN1L_000069 1/12986 1/8592 0/4394 - - - - - - -
?/? c.907+52C>T r.(=) p.(=) g.75113160C>T Copied from the Exome Variant Server LMAN1L_000070 1/7252 0/4610 1/2642 - - - - - - -
?/? c.952C>T r.(?) p.(Arg318Trp) g.75113460C>T Copied from the Exome Variant Server LMAN1L_000071 5/12944 5/8564 0/4380 - - - - - - -
?/? c.953G>A r.(?) p.(Arg318Gln) g.75113461G>A Copied from the Exome Variant Server LMAN1L_000072 2/12938 2/8560 0/4378 - - - - - - -
?/? c.970C>T r.(?) p.(Arg324Trp) g.75113478C>T Copied from the Exome Variant Server LMAN1L_000073 1/12896 1/8528 0/4368 - - - - - - -
?/? c.997G>A r.(?) p.(Ala333Thr) g.75113505G>A Copied from the Exome Variant Server LMAN1L_000074 1/12760 1/8474 0/4286 - - - - - - -
?/? c.1009T>C r.(?) p.(Trp337Arg) g.75113517T>C Copied from the Exome Variant Server LMAN1L_000075 1/12700 1/8432 0/4268 - - - - - - -
?/? c.1050C>T r.(=) p.(=) g.75113558C>T Copied from the Exome Variant Server LMAN1L_000076 2/12358 2/8190 0/4168 - - - - - - -
?/? c.1055G>T r.(?) p.(Gly352Val) g.75113563G>T Copied from the Exome Variant Server LMAN1L_000077 1/12344 1/8186 0/4158 - - - - - - -
?/? c.1060-41A>C r.(=) p.(=) g.75114129A>C Copied from the Exome Variant Server LMAN1L_000078 5/12986 5/8592 0/4394 - - - - - - -
?/? c.1060-15T>C r.(=) p.(=) g.75114155T>C Copied from the Exome Variant Server LMAN1L_000079 386/12986 1/8592 385/4394 - - - - - - -
?/? c.1131+1G>A r.spl? p.? g.75114242G>A Copied from the Exome Variant Server LMAN1L_000080 2/12986 2/8592 0/4394 - - - - - - -
?/? c.1131+9C>G r.(=) p.(=) g.75114250C>G Copied from the Exome Variant Server LMAN1L_000081 1/12986 1/8592 0/4394 - - - - - - -
?/? c.1132-46G>A r.(=) p.(=) g.75114937G>A Copied from the Exome Variant Server LMAN1L_000082 1/12986 1/8592 0/4394 - - - - - - -
?/? c.1132-38A>G r.(=) p.(=) g.75114945A>G Copied from the Exome Variant Server LMAN1L_000083 1/12986 0/8592 1/4394 - - - - - - -
?/? c.1199+32C>A r.(=) p.(=) g.75115082C>A Copied from the Exome Variant Server LMAN1L_000084 5/12986 5/8592 0/4394 - - - - - - -
?/? c.1200-45A>T r.(=) p.(=) g.75115855A>T Copied from the Exome Variant Server LMAN1L_000085 1/12986 0/8592 1/4394 - - - - - - -
?/? c.1200-7C>T r.(=) p.(=) g.75115893C>T Copied from the Exome Variant Server LMAN1L_000086 1/12986 1/8592 0/4394 - - - - - - -
?/? c.1200-6G>A r.(=) p.(=) g.75115894G>A Copied from the Exome Variant Server LMAN1L_000087 8/12986 8/8592 0/4394 - - - - - - -
?/? c.1200-5G>A r.spl? p.? g.75115895G>A Copied from the Exome Variant Server LMAN1L_000088 8831/12986 6176/8592 2655/4394 - - - - - - -
?/? c.1200-2A>G r.spl? p.? g.75115898A>G Copied from the Exome Variant Server LMAN1L_000089 1/12986 0/8592 1/4394 - - - - - - -
?/? c.1217T>A r.(?) p.(Met406Lys) g.75115917T>A Copied from the Exome Variant Server LMAN1L_000090 1/12986 0/8592 1/4394 - - - - - - -
?/? c.1220C>T r.(?) p.(Ala407Val) g.75115920C>T Copied from the Exome Variant Server LMAN1L_000091 93/12986 1/8592 92/4394 - - - - - - -
?/? c.1222G>A r.(?) p.(Ala408Thr) g.75115922G>A Copied from the Exome Variant Server LMAN1L_000092 2/12986 0/8592 2/4394 - - - - - - -
?/? c.1234G>A r.(?) p.(Val412Ile) g.75115934G>A Copied from the Exome Variant Server LMAN1L_000093 1/12986 0/8592 1/4394 - - - - - - -
?/? c.1236C>A r.(=) p.(=) g.75115936C>A Copied from the Exome Variant Server LMAN1L_000094 1/12984 0/8590 1/4394 - - - - - - -
?/? c.1242C>T r.(=) p.(=) g.75115942C>T Copied from the Exome Variant Server LMAN1L_000095 6/12984 6/8590 0/4394 - - - - - - -
?/? c.1279G>T r.(?) p.(Asp427Tyr) g.75115979G>T Copied from the Exome Variant Server LMAN1L_000096 1/12984 0/8590 1/4394 - - - - - - -
?/? c.1280A>G r.(?) p.(Asp427Gly) g.75115980A>G Copied from the Exome Variant Server LMAN1L_000097 1/12984 0/8590 1/4394 - - - - - - -
?/? c.1284C>T r.(=) p.(=) g.75115984C>T Copied from the Exome Variant Server LMAN1L_000098 30/12984 0/8590 30/4394 - - - - - - -
?/? c.1293C>G r.(=) p.(=) g.75115993C>G Copied from the Exome Variant Server LMAN1L_000099 208/12984 1/8590 207/4394 - - - - - - -
?/? c.1309C>T r.(?) p.(Leu437Phe) g.75116009C>T Copied from the Exome Variant Server LMAN1L_000100 275/12984 2/8590 273/4394 - - - - - - -
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