Full data view for gene L1CAM

Information The variants shown are described using the NM_024003.2 transcript reference sequence.

202 entries on 3 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.-17C>G r.(=) p.(=) g.153141308G>C Copied from the Exome Variant Server L1CAM_000189 1/10560 1/6726 0/3834 - - - - - - -
?/? c.-14T>C r.(=) p.(=) g.153141305A>G Copied from the Exome Variant Server L1CAM_000188 4/10562 0/6728 4/3834 - - - - - - -
?/? c.28C>T r.(?) p.(Pro10Ser) g.153141264G>A Copied from the Exome Variant Server L1CAM_000187 124/10563 1/6728 123/3835 - - - - - - -
?/? c.36C>A r.(=) p.(=) g.153141256G>T Copied from the Exome Variant Server L1CAM_000186 24/10563 22/6728 2/3835 - - - - - - -
?/? c.76+50C>A r.(=) p.(=) g.153141166G>T Copied from the Exome Variant Server L1CAM_000185 1/10563 1/6728 0/3835 - - - - - - -
?/? c.76+57T>G r.(=) p.(=) g.153141159A>C Copied from the Exome Variant Server L1CAM_000184 8/3600 0/2391 8/1209 - - - - - - -
?/? c.76+90G>T r.(=) p.(=) g.153141126C>A Copied from the Exome Variant Server L1CAM_000183 1/4516 0/3102 1/1414 - - - - - - -
?/? c.77-68C>T r.(=) p.(=) g.153138765G>A Copied from the Exome Variant Server L1CAM_000176 4/3600 0/2391 4/1209 - - - - - - -
?/? c.92-21C>T r.(=) p.(=) g.153138173G>A Copied from the Exome Variant Server L1CAM_000175 1/10563 0/6728 1/3835 - - - - - - -
?/? c.113C>T r.(?) p.(Thr38Met) g.153138131G>A Copied from the Exome Variant Server L1CAM_000174 1/10563 1/6728 0/3835 - - - - - - -
?/? c.130C>A r.(?) p.(Arg44Ser) g.153138114G>T Copied from the Exome Variant Server L1CAM_000173 1/10563 0/6728 1/3835 - - - - - - -
?/? c.131G>A r.(?) p.(Arg44His) g.153138113C>T Copied from the Exome Variant Server L1CAM_000172 1/10563 1/6728 0/3835 - - - - - - -
?/? c.132C>A r.(=) p.(=) g.153138112G>T Copied from the Exome Variant Server L1CAM_000171 1/10563 1/6728 0/3835 - - - - - - -
?/? c.133C>A r.(?) p.(Leu45Met) g.153138111G>T Copied from the Exome Variant Server L1CAM_000170 1/10563 1/6728 0/3835 - - - - - - -
?/? c.139G>T r.(?) p.(Val47Phe) g.153138105C>A Copied from the Exome Variant Server L1CAM_000169 2/10563 0/6728 2/3835 - - - - - - -
?/? c.140T>C r.(?) p.(Val47Ala) g.153138104A>G Copied from the Exome Variant Server L1CAM_000125 1/10563 1/6728 0/3835 - - - - - - -
?/? c.186G>A r.(=) p.(=) g.153138058C>T Copied from the Exome Variant Server L1CAM_000075 1/10563 0/6728 1/3835 - - - - - - -
?/? c.197+17G>A r.(=) p.(=) g.153138030C>T Copied from the Exome Variant Server L1CAM_000074 341/10563 20/6728 321/3835 - - - - - - -
?/? c.197+47C>A r.(=) p.(=) g.153138000G>T Copied from the Exome Variant Server L1CAM_000073 2/10563 2/6728 0/3835 - - - - - - -
?/? c.197+48G>A r.(=) p.(=) g.153137999C>T Copied from the Exome Variant Server L1CAM_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.198-47C>T r.(=) p.(=) g.153137856G>A Copied from the Exome Variant Server L1CAM_000071 5/10558 0/6724 5/3834 - - - - - - -
?/? c.198-46G>A r.(=) p.(=) g.153137855C>T Copied from the Exome Variant Server L1CAM_000070 1/10561 1/6726 0/3835 - - - - - - -
?/? c.232C>T r.(?) p.(Pro78Ser) g.153137775G>A Copied from the Exome Variant Server L1CAM_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.256G>A r.(?) p.(Val86Met) g.153137751C>T Copied from the Exome Variant Server L1CAM_000068 4/10563 3/6728 1/3835 - - - - - - -
?/? c.287C>G r.(?) p.(Thr96Ser) g.153137720G>C Copied from the Exome Variant Server L1CAM_000067 1/10563 1/6728 0/3835 - - - - - - -
?/? c.293C>T r.(?) p.(Thr98Met) g.153137714G>A Copied from the Exome Variant Server L1CAM_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.396C>T r.(=) p.(=) g.153137611G>A Copied from the Exome Variant Server L1CAM_000065 19/10563 4/6728 15/3835 - - - - - - -
?/? c.400+9C>T r.(=) p.(=) g.153137598G>A Copied from the Exome Variant Server L1CAM_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.400+10G>A r.(=) p.(=) g.153137597C>T Copied from the Exome Variant Server L1CAM_000063 1/10563 1/6728 0/3835 - - - - - - -
?/? c.400+44C>T r.(=) p.(=) g.153137563G>A Copied from the Exome Variant Server L1CAM_000062 1/10561 1/6726 0/3835 - - - - - - -
?/? c.400+45G>A r.(=) p.(=) g.153137562C>T Copied from the Exome Variant Server L1CAM_000061 15/10560 0/6725 15/3835 - - - - - - -
?/? c.401-22T>A r.(=) p.(=) g.153136656A>T Copied from the Exome Variant Server L1CAM_000060 1/10562 1/6727 0/3835 - - - - - - -
?/? c.523+8C>A r.(=) p.(=) g.153136504G>T Copied from the Exome Variant Server L1CAM_000059 1/10561 1/6727 0/3834 - - - - - - -
?/? c.523+10G>A r.(=) p.(=) g.153136502C>T Copied from the Exome Variant Server L1CAM_000058 1/10562 0/6727 1/3835 - - - - - - -
?/? c.523+13G>A r.(=) p.(=) g.153136499C>T Copied from the Exome Variant Server L1CAM_000057 1/10562 1/6727 0/3835 - - - - - - -
?/? c.523+26G>A r.(=) p.(=) g.153136486C>T Copied from the Exome Variant Server L1CAM_000056 10/10563 0/6728 10/3835 - - - - - - -
?/? c.523+34G>C r.(=) p.(=) g.153136478C>G Copied from the Exome Variant Server L1CAM_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.523+44C>T r.(=) p.(=) g.153136468G>A Copied from the Exome Variant Server L1CAM_000054 2/10563 2/6728 0/3835 - - - - - - -
?/? c.523+45G>A r.(=) p.(=) g.153136467C>T Copied from the Exome Variant Server L1CAM_000053 37/10563 1/6728 36/3835 - - - - - - -
?/? c.524-29C>A r.(=) p.(=) g.153136444G>T Copied from the Exome Variant Server L1CAM_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.524-21C>T r.(=) p.(=) g.153136436G>A Copied from the Exome Variant Server L1CAM_000051 2/10563 0/6728 2/3835 - - - - - - -
?/? c.524-20G>A r.(=) p.(=) g.153136435C>T Copied from the Exome Variant Server L1CAM_000124 1/10563 1/6728 0/3835 - - - - - - -
?/? c.524-15C>G r.(=) p.(=) g.153136430G>C Copied from the Exome Variant Server L1CAM_000123 3/10563 0/6728 3/3835 - - - - - - -
?/? c.591T>C r.(=) p.(=) g.153136348A>G Copied from the Exome Variant Server L1CAM_000122 1/10563 1/6728 0/3835 - - - - - - -
?/? c.618C>A r.(?) p.(Asp206Glu) g.153136321G>T Copied from the Exome Variant Server L1CAM_000121 1/10563 1/6728 0/3835 - - - - - - -
?/? c.630C>T r.(=) p.(=) g.153136309G>A Copied from the Exome Variant Server L1CAM_000120 4/10563 0/6728 4/3835 - - - - - - -
?/? c.683G>A r.(?) p.(Arg228Gln) g.153136256C>T Copied from the Exome Variant Server L1CAM_000119 1/10563 1/6728 0/3835 - - - - - - -
?/? c.695-21C>T r.(=) p.(=) g.153135975G>A Copied from the Exome Variant Server L1CAM_000118 21/10559 21/6727 0/3832 - - - - - - -
?/? c.720G>A r.(=) p.(=) g.153135929C>T Copied from the Exome Variant Server L1CAM_000117 117/10561 1/6728 116/3833 - - - - - - -
?/? c.722G>A r.(?) p.(Arg241His) g.153135927C>T Copied from the Exome Variant Server L1CAM_000116 1/10562 1/6728 0/3834 - - - - - - -
?/? c.736A>G r.(?) p.(Thr246Ala) g.153135913T>C Copied from the Exome Variant Server L1CAM_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.771G>T r.(=) p.(=) g.153135878C>A Copied from the Exome Variant Server L1CAM_000049 1/10563 0/6728 1/3835 - - - - - - -
?/? c.795C>T r.(=) p.(=) g.153135854G>A Copied from the Exome Variant Server L1CAM_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.799G>A r.(?) p.(Glu267Lys) g.153135850C>T Copied from the Exome Variant Server L1CAM_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.804C>A r.(=) p.(=) g.153135845G>T Copied from the Exome Variant Server L1CAM_000046 1/10563 0/6728 1/3835 - - - - - - -
?/? c.806+18G>A r.(=) p.(=) g.153135825C>T Copied from the Exome Variant Server L1CAM_000045 4/10563 3/6728 1/3835 - - - - - - -
?/? c.806+24G>A r.(=) p.(=) g.153135819C>T Copied from the Exome Variant Server L1CAM_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.825A>G r.(=) p.(=) g.153135677T>C Copied from the Exome Variant Server L1CAM_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.833G>A r.(?) p.(Arg278His) g.153135669C>T Copied from the Exome Variant Server L1CAM_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.855C>T r.(=) p.(=) g.153135647G>A Copied from the Exome Variant Server L1CAM_000041 365/10563 2/6728 363/3835 - - - - - - -
?/? c.885G>C r.(?) p.(Lys295Asn) g.153135617C>G Copied from the Exome Variant Server L1CAM_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.925G>A r.(?) p.(Glu309Lys) g.153135577C>T Copied from the Exome Variant Server L1CAM_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.963C>T r.(=) p.(=) g.153135539G>A Copied from the Exome Variant Server L1CAM_000038 2/10563 0/6728 2/3835 - - - - - - -
?/? c.964C>T r.(?) p.(Arg322Trp) g.153135538G>A Copied from the Exome Variant Server L1CAM_000037 3/10563 0/6728 3/3835 - - - - - - -
?/? c.984C>T r.(=) p.(=) g.153135518G>A Copied from the Exome Variant Server L1CAM_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.992-43G>A r.(=) p.(=) g.153135432C>T Copied from the Exome Variant Server L1CAM_000035 1/10554 1/6719 0/3835 - - - - - - -
?/? c.992-40G>A r.(=) p.(=) g.153135429C>T Copied from the Exome Variant Server L1CAM_000034 1/10550 1/6718 0/3832 - - - - - - -
?/? c.992-32C>T r.(=) p.(=) g.153135421G>A Copied from the Exome Variant Server L1CAM_000033 43/10542 40/6715 3/3827 - - - - - - -
?/? c.992-31G>A r.(=) p.(=) g.153135420C>T Copied from the Exome Variant Server L1CAM_000032 1/10544 1/6715 0/3829 - - - - - - -
?/? c.992-21C>T r.(=) p.(=) g.153135410G>A Copied from the Exome Variant Server L1CAM_000031 1/10539 0/6712 1/3827 - - - - - - -
?/? c.1002C>T r.(=) p.(=) g.153135379G>A Copied from the Exome Variant Server L1CAM_000030 35/10551 0/6725 35/3826 - - - - - - -
?/? c.1008G>A r.(=) p.(=) g.153135373C>T Copied from the Exome Variant Server L1CAM_000029 1/10554 1/6726 0/3828 - - - - - - -
?/? c.1050C>T r.(=) p.(=) g.153135331G>A Copied from the Exome Variant Server L1CAM_000028 1/10562 1/6728 0/3834 - - - - - - -
?/? c.1052G>A r.(?) p.(Arg351His) g.153135329C>T Copied from the Exome Variant Server L1CAM_000027 2/10562 0/6728 2/3834 - - - - - - -
?/? c.1123+6C>G r.(=) p.(=) g.153135252G>C Copied from the Exome Variant Server L1CAM_000026 1/10556 1/6727 0/3829 - - - - - - -
?/? c.1123+20G>T r.(=) p.(=) g.153135238C>A Copied from the Exome Variant Server L1CAM_000115 1/10556 0/6726 1/3830 - - - - - - -
?/? c.1123+50T>C r.(=) p.(=) g.153135208A>G Copied from the Exome Variant Server L1CAM_000114 3/10557 0/6726 3/3831 - - - - - - -
?/? c.1220G>A r.(?) p.(Arg407His) g.153135022C>T Copied from the Exome Variant Server L1CAM_000113 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1267+37T>A r.(=) p.(=) g.153134938A>T Copied from the Exome Variant Server L1CAM_000112 1/10562 1/6728 0/3834 - - - - - - -
?/? c.1268-51C>T r.(=) p.(=) g.153134458G>A Copied from the Exome Variant Server L1CAM_000111 1/10558 0/6724 1/3834 - - - - - - -
?/? c.1268-40C>T r.(=) p.(=) g.153134447G>A Copied from the Exome Variant Server L1CAM_000110 5/10560 5/6726 0/3834 - - - - - - -
?/? c.1268-10C>T r.(=) p.(=) g.153134417G>A Copied from the Exome Variant Server L1CAM_000109 452/10563 3/6728 449/3835 - - - - - - -
?/? c.1304C>T r.(?) p.(Thr435Met) g.153134371G>A Copied from the Exome Variant Server L1CAM_000108 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1345A>G r.(?) p.(Lys449Glu) g.153134330T>C Copied from the Exome Variant Server L1CAM_000107 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1379+12G>A r.(=) p.(=) g.153134284C>T Copied from the Exome Variant Server L1CAM_000106 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1379+33G>A r.(=) p.(=) g.153134263C>T Copied from the Exome Variant Server L1CAM_000105 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1379+47A>C r.(=) p.(=) g.153134249T>G Copied from the Exome Variant Server L1CAM_000104 18/10563 10/6728 8/3835 - - - - - - -
?/? c.1380-51C>T r.(=) p.(=) g.153134233G>A Copied from the Exome Variant Server L1CAM_000103 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1379+55_1380-43del r.spl? p.? g.153134225_153134241del Copied from the Exome Variant Server L1CAM_000102 9/10205 6/6484 3/3721 - - - - - - -
?/? c.1380-37_1380-36insC r.(=) p.(=) g.153134218_153134219insG Copied from the Exome Variant Server L1CAM_000101 29/10205 24/6484 5/3721 - - - - - - -
?/? c.1380-17C>T r.(=) p.(=) g.153134199G>A Copied from the Exome Variant Server L1CAM_000168 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1476C>T r.(=) p.(=) g.153134086G>A Copied from the Exome Variant Server L1CAM_000167 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1546+48G>A r.(=) p.(=) g.153133968C>T Copied from the Exome Variant Server L1CAM_000166 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1547-18C>T r.(=) p.(=) g.153133931G>A Copied from the Exome Variant Server L1CAM_000165 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1547-14C>T r.(=) p.(=) g.153133927G>A Copied from the Exome Variant Server L1CAM_000164 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1547-6C>T r.(=) p.(=) g.153133919G>A Copied from the Exome Variant Server L1CAM_000163 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1573C>T r.(?) p.(Arg525Cys) g.153133887G>A Copied from the Exome Variant Server L1CAM_000162 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1704-18_1704-15del r.(=) p.(=) g.153133592_153133595del Copied from the Exome Variant Server L1CAM_000161 11/10205 10/6484 1/3721 - - - - - - -
?/? c.1704-14C>T r.(=) p.(=) g.153133591G>A Copied from the Exome Variant Server L1CAM_000160 186/10563 0/6728 186/3835 - - - - - - -
?/? c.1707C>T r.(=) p.(=) g.153133574G>A Copied from the Exome Variant Server L1CAM_000159 1/10563 1/6728 0/3835 - - - - - - -
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