Full data view for gene PALLD

Information The variants shown are described using the NM_016081.3 transcript reference sequence.

193 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.-20T>C r.(=) p.(=) g.169432636T>C Copied from the Exome Variant Server PALLD_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-8G>A r.(=) p.(=) g.169432648G>A Copied from the Exome Variant Server PALLD_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-7T>C r.(=) p.(=) g.169432649T>C Copied from the Exome Variant Server PALLD_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.8G>T r.(?) p.(Gly3Val) g.169432663G>T Copied from the Exome Variant Server PALLD_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.18C>T r.(=) p.(=) g.169432673C>T Copied from the Exome Variant Server PALLD_000005 2808/13006 1775/8600 1033/4406 - - - - - - -
?/? c.83C>T r.(?) p.(Pro28Leu) g.169432738C>T Copied from the Exome Variant Server PALLD_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.84G>A r.(=) p.(=) g.169432739G>A Copied from the Exome Variant Server PALLD_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.116T>A r.(?) p.(Ile39Lys) g.169432771T>A Copied from the Exome Variant Server PALLD_000008 2/13006 1/8600 1/4406 - - - - - - -
?/? c.140G>A r.(?) p.(Arg47Gln) g.169432795G>A Copied from the Exome Variant Server PALLD_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.149T>C r.(?) p.(Ile50Thr) g.169432804T>C Copied from the Exome Variant Server PALLD_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.186G>A r.(=) p.(=) g.169432841G>A Copied from the Exome Variant Server PALLD_000011 3829/13006 2789/8600 1040/4406 - - - - - - -
?/? c.195G>A r.(=) p.(=) g.169432850G>A Copied from the Exome Variant Server PALLD_000012 3/13006 3/8600 0/4406 - - - - - - -
?/? c.223C>T r.(?) p.(Leu75Phe) g.169432878C>T Copied from the Exome Variant Server PALLD_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.229G>C r.(?) p.(Glu77Gln) g.169432884G>C Copied from the Exome Variant Server PALLD_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.232C>T r.(?) p.(His78Tyr) g.169432887C>T Copied from the Exome Variant Server PALLD_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.250A>C r.(?) p.(Thr84Pro) g.169432905A>C Copied from the Exome Variant Server PALLD_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.267C>A r.(?) p.(His89Gln) g.169432922C>A Copied from the Exome Variant Server PALLD_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.275G>C r.(?) p.(Arg92Thr) g.169432930G>C Copied from the Exome Variant Server PALLD_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.306C>T r.(=) p.(=) g.169432961C>T Copied from the Exome Variant Server PALLD_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.331A>G r.(?) p.(Lys111Glu) g.169432986A>G Copied from the Exome Variant Server PALLD_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.365C>T r.(?) p.(Pro122Leu) g.169433020C>T Copied from the Exome Variant Server PALLD_000021 2/13006 2/8600 0/4406 - - - - - - -
?/? c.366T>G r.(=) p.(=) g.169433021T>G Copied from the Exome Variant Server PALLD_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.399C>T r.(=) p.(=) g.169433054C>T Copied from the Exome Variant Server PALLD_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.401T>A r.(?) p.(Ile134Asn) g.169433056T>A Copied from the Exome Variant Server PALLD_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.413G>A r.(?) p.(Arg138Gln) g.169433068G>A Copied from the Exome Variant Server PALLD_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.428G>A r.(?) p.(Arg143His) g.169433083G>A Copied from the Exome Variant Server PALLD_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.453C>T r.(=) p.(=) g.169433108C>T Copied from the Exome Variant Server PALLD_000027 2/13006 1/8600 1/4406 - - - - - - -
?/? c.460C>A r.(?) p.(Pro154Thr) g.169433115C>A Copied from the Exome Variant Server PALLD_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? c.467C>T r.(?) p.(Thr156Met) g.169433122C>T Copied from the Exome Variant Server PALLD_000029 4/13006 4/8600 0/4406 - - - - - - -
?/? c.468G>A r.(=) p.(=) g.169433123G>A Copied from the Exome Variant Server PALLD_000030 3/13006 1/8600 2/4406 - - - - - - -
?/? c.481A>C r.(?) p.(Lys161Gln) g.169433136A>C Copied from the Exome Variant Server PALLD_000031 2/13006 0/8600 2/4406 - - - - - - -
?/? c.492C>T r.(=) p.(=) g.169433147C>T Copied from the Exome Variant Server PALLD_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.502C>G r.(?) p.(Leu168Val) g.169433157C>G Copied from the Exome Variant Server PALLD_000033 45/13006 0/8600 45/4406 - - - - - - -
?/? c.539C>T r.(?) p.(Thr180Ile) g.169433194C>T Copied from the Exome Variant Server PALLD_000034 11/13006 0/8600 11/4406 - - - - - - -
?/? c.556G>A r.(?) p.(Ala186Thr) g.169433211G>A Copied from the Exome Variant Server PALLD_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.594G>A r.(=) p.(=) g.169433249G>A Copied from the Exome Variant Server PALLD_000036 2/13006 0/8600 2/4406 - - - - - - -
?/? c.671T>C r.(?) p.(Met224Thr) g.169433326T>C Copied from the Exome Variant Server PALLD_000037 3689/13006 2621/8600 1068/4406 - - - - - - -
?/? c.672G>A r.(?) p.(Met224Ile) g.169433327G>A Copied from the Exome Variant Server PALLD_000038 3689/13006 2624/8600 1065/4406 - - - - - - -
?/? c.678C>T r.(=) p.(=) g.169433333C>T Copied from the Exome Variant Server PALLD_000039 3928/13006 2811/8600 1117/4406 - - - - - - -
?/? c.723T>A r.(?) p.(His241Gln) g.169433378T>A Copied from the Exome Variant Server PALLD_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.729C>T r.(=) p.(=) g.169433384C>T Copied from the Exome Variant Server PALLD_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.730C>T r.(?) p.(Gln244*) g.169433385C>T Copied from the Exome Variant Server PALLD_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.731A>G r.(?) p.(Gln244Arg) g.169433386A>G Copied from the Exome Variant Server PALLD_000043 18/13006 0/8600 18/4406 - - - - - - -
?/? c.764G>A r.(?) p.(Arg255His) g.169433419G>A Copied from the Exome Variant Server PALLD_000045 18/13006 15/8600 3/4406 - - - - - - -
?/? c.789C>T r.(=) p.(=) g.169433444C>T Copied from the Exome Variant Server PALLD_000046 1357/13006 1168/8600 189/4406 - - - - - - -
?/? c.815G>A r.(?) p.(Arg272Gln) g.169433470G>A Copied from the Exome Variant Server PALLD_000049 6/13006 0/8600 6/4406 - - - - - - -
?/? c.856A>G r.(?) p.(Ser286Gly) g.169433511A>G Copied from the Exome Variant Server PALLD_000050 28/12998 0/8594 28/4404 - - - - - - -
?/? c.859C>T r.(?) p.(Arg287*) g.169433514C>T Copied from the Exome Variant Server PALLD_000044 1/12998 1/8596 0/4402 - - - - - - -
?/? c.860G>A r.(?) p.(Arg287Gln) g.169433515G>A Copied from the Exome Variant Server PALLD_000047 1/12998 1/8598 0/4400 - - - - - - -
?/? c.902G>A r.(?) p.(Arg301Gln) g.169433557G>A Copied from the Exome Variant Server PALLD_000048 1/12816 0/8480 1/4336 - - - - - - -
?/? c.908+6A>C r.(=) p.(=) g.169433569A>C Copied from the Exome Variant Server PALLD_000051 1/12654 1/8386 0/4268 - - - - - - -
?/? c.909A>T r.(?) p.(Arg303Ser) g.169589341A>T Copied from the Exome Variant Server PALLD_000052 8/13006 6/8600 2/4406 - - - - - - -
?/? c.910T>C r.(?) p.(Trp304Arg) g.169589342T>C Copied from the Exome Variant Server PALLD_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.970G>T r.(?) p.(Gly324Trp) g.169589402G>T Copied from the Exome Variant Server PALLD_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.972G>A r.(=) p.(=) g.169589404G>A Copied from the Exome Variant Server PALLD_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1012G>A r.(?) p.(Asp338Asn) g.169589444G>A Copied from the Exome Variant Server PALLD_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1022G>A r.(?) p.(Arg341His) g.169589454G>A Copied from the Exome Variant Server PALLD_000057 5/13006 3/8600 2/4406 - - - - - - -
?/? c.1040C>T r.(?) p.(Thr347Met) g.169589472C>T Copied from the Exome Variant Server PALLD_000058 11/13006 8/8600 3/4406 - - - - - - -
?/? c.1059_1060insACA r.(?) p.(Thr355dup) g.169589491_169589492insACA Copied from the Exome Variant Server PALLD_000059 1/12520 0/8254 1/4266 - - - - - - -
?/? c.1082T>C r.(?) p.(Ile361Thr) g.169589514T>C Copied from the Exome Variant Server PALLD_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1087+9G>A r.(=) p.(=) g.169589528G>A Copied from the Exome Variant Server PALLD_000061 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1087+24G>C r.(=) p.(=) g.169589543G>C Copied from the Exome Variant Server PALLD_000062 6/13006 6/8600 0/4406 - - - - - - -
?/? c.1087+27G>T r.(=) p.(=) g.169589546G>T Copied from the Exome Variant Server PALLD_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1088-10A>C r.(=) p.(=) g.169602473A>C Copied from the Exome Variant Server PALLD_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1129A>G r.(?) p.(Lys377Glu) g.169602524A>G Copied from the Exome Variant Server PALLD_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1154+11A>G r.(=) p.(=) g.169602560A>G Copied from the Exome Variant Server PALLD_000066 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1154+46A>T r.(=) p.(=) g.169602595A>T Copied from the Exome Variant Server PALLD_000067 21/13006 0/8600 21/4406 - - - - - - -
?/? c.1155-49A>G r.(=) p.(=) g.169604100A>G Copied from the Exome Variant Server PALLD_000068 3/13002 3/8598 0/4404 - - - - - - -
?/? c.1155-47G>A r.(=) p.(=) g.169604102G>A Copied from the Exome Variant Server PALLD_000069 76/13004 0/8600 76/4404 - - - - - - -
?/? c.1155-21A>C r.(=) p.(=) g.169604128A>C Copied from the Exome Variant Server PALLD_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1155-19T>C r.(=) p.(=) g.169604130T>C Copied from the Exome Variant Server PALLD_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1155-9A>G r.(=) p.(=) g.169604140A>G Copied from the Exome Variant Server PALLD_000073 87/13006 0/8600 87/4406 - - - - - - -
?/? c.1240C>T r.(=) p.(=) g.169604234C>T Copied from the Exome Variant Server PALLD_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1260+35C>A r.(=) p.(=) g.169604289C>A Copied from the Exome Variant Server PALLD_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1261-11T>G r.(=) p.(=) g.169606625T>G Copied from the Exome Variant Server PALLD_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1266C>G r.(?) p.(His422Gln) g.169606641C>G Copied from the Exome Variant Server PALLD_000081 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1273A>T r.(?) p.(Thr425Ser) g.169606648A>T Copied from the Exome Variant Server PALLD_000072 53/13006 50/8600 3/4406 - - - - - - -
?/? c.1274C>A r.(?) p.(Thr425Asn) g.169606649C>A Copied from the Exome Variant Server PALLD_000074 1449/13006 642/8600 807/4406 - - - - - - -
?/? c.1289G>A r.(?) p.(Arg430Gln) g.169606664G>A Copied from the Exome Variant Server PALLD_000076 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1297G>A r.(?) p.(Gly433Arg) g.169606672G>A Copied from the Exome Variant Server PALLD_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1301C>T r.(?) p.(Thr434Ile) g.169606676C>T Copied from the Exome Variant Server PALLD_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1335+58C>T r.(=) p.(=) g.169606768C>T Copied from the Exome Variant Server PALLD_000082 82/4566 1/3182 81/1384 - - - - - - -
?/? c.1336-44A>G r.(=) p.(=) g.169611710A>G Copied from the Exome Variant Server PALLD_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1336-42C>G r.(=) p.(=) g.169611712C>G Copied from the Exome Variant Server PALLD_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1336-41A>G r.(=) p.(=) g.169611713A>G Copied from the Exome Variant Server PALLD_000085 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1336-23C>T r.(=) p.(=) g.169611731C>T Copied from the Exome Variant Server PALLD_000086 50/13006 0/8600 50/4406 - - - - - - -
?/? c.1336-10T>C r.(=) p.(=) g.169611744T>C Copied from the Exome Variant Server PALLD_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1347C>T r.(=) p.(=) g.169611765C>T Copied from the Exome Variant Server PALLD_000088 578/13006 8/8600 570/4406 - - - - - - -
?/? c.1358C>T r.(?) p.(Ala453Val) g.169611776C>T Copied from the Exome Variant Server PALLD_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1372G>A r.(?) p.(Val458Met) g.169611790G>A Copied from the Exome Variant Server PALLD_000090 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1374G>A r.(=) p.(=) g.169611792G>A Copied from the Exome Variant Server PALLD_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1380G>C r.(=) p.(=) g.169611798G>C Copied from the Exome Variant Server PALLD_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1394G>A r.(?) p.(Arg465His) g.169611812G>A Copied from the Exome Variant Server PALLD_000096 24/13006 22/8600 2/4406 - - - - - - -
?/? c.1477+16C>T r.(=) p.(=) g.169611911C>T Copied from the Exome Variant Server PALLD_000098 6/13006 4/8600 2/4406 - - - - - - -
?/? c.1477+31G>A r.(=) p.(=) g.169611926G>A Copied from the Exome Variant Server PALLD_000100 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1478-70_1478-69insT r.(=) p.(=) g.169612350_169612351insT Copied from the Exome Variant Server PALLD_000102 5/12502 1/8242 4/4260 - - - - - - -
?/? c.1501+35_1501+36insG r.(=) p.(=) g.169612478_169612479insG Copied from the Exome Variant Server PALLD_000105 33/12484 28/8236 5/4248 - - - - - - -
?/? c.1501+43C>A r.(=) p.(=) g.169612486C>A Copied from the Exome Variant Server PALLD_000107 1/12986 1/8592 0/4394 - - - - - - -
?/? c.1501+85C>T r.(=) p.(=) g.169612528C>T Copied from the Exome Variant Server PALLD_000108 1103/4562 536/3178 567/1384 - - - - - - -
?/? c.1502-25A>C r.(=) p.(=) g.169630154A>C Copied from the Exome Variant Server PALLD_000111 1/13006 0/8600 1/4406 - - - - - - -
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