Full data view for gene PALB2

Information The variants shown are described using the NM_024675.3 transcript reference sequence.

169 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

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.-49C>A r.(=) p.(=) g.23652527G>T Copied from the Exome Variant Server PALB2_000169 1/12818 0/8476 1/4342 - - - - - - -
?/? c.-47G>A r.(=) p.(=) g.23652525C>T Copied from the Exome Variant Server PALB2_000168 538/12894 167/8528 371/4366 - - - - - - -
?/? c.-7C>T r.(=) p.(=) g.23652485G>A Copied from the Exome Variant Server PALB2_000167 1/12984 1/8594 0/4390 - - - - - - -
?/? c.11C>T r.(?) p.(Pro4Leu) g.23652468G>A Copied from the Exome Variant Server PALB2_000166 5/12994 5/8600 0/4394 - - - - - - -
?/? c.13C>T r.(?) p.(Pro5Ser) g.23652466G>A Copied from the Exome Variant Server PALB2_000165 1/12994 1/8600 0/4394 - - - - - - -
?/? c.23C>T r.(?) p.(Pro8Leu) g.23652456G>A Copied from the Exome Variant Server PALB2_000164 9/12994 0/8600 9/4394 - - - - - - -
?/? c.37G>A r.(?) p.(Glu13Lys) g.23652442C>T Copied from the Exome Variant Server PALB2_000163 1/12994 1/8600 0/4394 - - - - - - -
?/? c.48+7G>C r.(=) p.(=) g.23652424C>G Copied from the Exome Variant Server PALB2_000162 4/12994 0/8600 4/4394 - - - - - - -
?/? c.49-43C>G r.(=) p.(=) g.23649493G>C Copied from the Exome Variant Server PALB2_000161 1/12994 1/8600 0/4394 - - - - - - -
?/? c.49-40T>G r.(=) p.(=) g.23649490A>C Copied from the Exome Variant Server PALB2_000160 1/12994 1/8600 0/4394 - - - - - - -
?/? c.53A>G r.(?) p.(Lys18Arg) g.23649446T>C Copied from the Exome Variant Server PALB2_000159 68/12994 0/8600 68/4394 - - - - - - -
?/? c.94C>G r.(?) p.(Leu32Val) g.23649405G>C Copied from the Exome Variant Server PALB2_000158 3/12994 2/8600 1/4394 - - - - - - -
?/? c.100C>T r.(?) p.(Arg34Cys) g.23649399G>A Copied from the Exome Variant Server PALB2_000157 1/12994 1/8600 0/4394 - - - - - - -
?/? c.101G>T r.(?) p.(Arg34Leu) g.23649398C>A Copied from the Exome Variant Server PALB2_000156 1/12994 0/8600 1/4394 - - - - - - -
?/? c.104T>C r.(?) p.(Leu35Pro) g.23649395A>G Copied from the Exome Variant Server PALB2_000155 1/12994 1/8600 0/4394 - - - - - - -
?/? c.108+23T>C r.(=) p.(=) g.23649368A>G Copied from the Exome Variant Server PALB2_000154 1/12994 1/8600 0/4394 - - - - - - -
?/? c.108+40A>G r.(=) p.(=) g.23649351T>C Copied from the Exome Variant Server PALB2_000153 9/12994 0/8600 9/4394 - - - - - - -
?/? c.108+46T>C r.(=) p.(=) g.23649345A>G Copied from the Exome Variant Server PALB2_000152 3/12994 0/8600 3/4394 - - - - - - -
?/? c.109-31G>T r.(=) p.(=) g.23649304C>A Copied from the Exome Variant Server PALB2_000151 1/12994 1/8600 0/4394 - - - - - - -
?/? c.109-7C>T r.(=) p.(=) g.23649280G>A Copied from the Exome Variant Server PALB2_000150 1/12992 1/8600 0/4392 - - - - - - -
?/? c.109C>A r.(?) p.(Arg37Ser) g.23649273G>T Copied from the Exome Variant Server PALB2_000149 1/12994 0/8600 1/4394 - - - - - - -
?/? c.113C>T r.(?) p.(Ala38Val) g.23649269G>A Copied from the Exome Variant Server PALB2_000148 1/12994 1/8600 0/4394 - - - - - - -
?/? c.155T>C r.(?) p.(Val52Ala) g.23649227A>G Copied from the Exome Variant Server PALB2_000147 1/12994 1/8600 0/4394 - - - - - - -
?/? c.194C>T r.(?) p.(Pro65Leu) g.23649188G>A Copied from the Exome Variant Server PALB2_000146 2/12994 1/8600 1/4394 - - - - - - -
?/? c.298C>T r.(?) p.(Leu100Phe) g.23647569G>A Copied from the Exome Variant Server PALB2_000145 3/12994 3/8600 0/4394 - - - - - - -
?/? c.338C>G r.(?) p.(Pro113Arg) g.23647529G>C Copied from the Exome Variant Server PALB2_000144 1/12994 1/8600 0/4394 - - - - - - -
?/? c.344G>T r.(?) p.(Gly115Val) g.23647523C>A Copied from the Exome Variant Server PALB2_000143 2/12994 2/8600 0/4394 - - - - - - -
?/? c.353T>C r.(?) p.(Ile118Thr) g.23647514A>G Copied from the Exome Variant Server PALB2_000142 1/12994 1/8600 0/4394 - - - - - - -
?/? c.400G>A r.(?) p.(Asp134Asn) g.23647467C>T Copied from the Exome Variant Server PALB2_000141 24/12994 0/8600 24/4394 - - - - - - -
?/? c.406A>T r.(?) p.(Ser136Cys) g.23647461T>A Copied from the Exome Variant Server PALB2_000140 2/12994 0/8600 2/4394 - - - - - - -
?/? c.483C>G r.(?) p.(Asp161Glu) g.23647384G>C Copied from the Exome Variant Server PALB2_000139 1/12994 1/8600 0/4394 - - - - - - -
?/? c.590C>T r.(?) p.(Thr197Ile) g.23647277G>A Copied from the Exome Variant Server PALB2_000138 1/12994 0/8600 1/4394 - - - - - - -
?/? c.619C>G r.(?) p.(Pro207Ala) g.23647248G>C Copied from the Exome Variant Server PALB2_000137 1/12994 0/8600 1/4394 - - - - - - -
?/? c.629C>T r.(?) p.(Pro210Leu) g.23647238G>A Copied from the Exome Variant Server PALB2_000136 288/12994 3/8600 285/4394 - - - - - - -
?/? c.656A>G r.(?) p.(Asp219Gly) g.23647211T>C Copied from the Exome Variant Server PALB2_000135 2/12994 1/8600 1/4394 - - - - - - -
?/? c.668T>C r.(?) p.(Ile223Thr) g.23647199A>G Copied from the Exome Variant Server PALB2_000134 3/12994 0/8600 3/4394 - - - - - - -
?/? c.721A>G r.(?) p.(Asn241Asp) g.23647146T>C Copied from the Exome Variant Server PALB2_000133 27/12994 0/8600 27/4394 - - - - - - -
?/? c.735G>A r.(=) p.(=) g.23647132C>T Copied from the Exome Variant Server PALB2_000132 1/12994 1/8600 0/4394 - - - - - - -
?/? c.758_759insT r.(?) p.(Ser254Ilefs*3) g.23647108_23647109insA Copied from the Exome Variant Server PALB2_000131 1/12516 0/8254 1/4262 - - - - - - -
?/? c.759A>G r.(=) p.(=) g.23647108T>C Copied from the Exome Variant Server PALB2_000130 1/12994 1/8600 0/4394 - - - - - - -
?/? c.765T>C r.(=) p.(=) g.23647102A>G Copied from the Exome Variant Server PALB2_000129 2/12994 2/8600 0/4394 - - - - - - -
?/? c.773G>A r.(?) p.(Ser258Asn) g.23647094C>T Copied from the Exome Variant Server PALB2_000128 1/12994 1/8600 0/4394 - - - - - - -
?/? c.840C>T r.(=) p.(=) g.23647027G>A Copied from the Exome Variant Server PALB2_000127 1/12994 1/8600 0/4394 - - - - - - -
?/? c.909C>T r.(=) p.(=) g.23646958G>A Copied from the Exome Variant Server PALB2_000126 14/12994 0/8600 14/4394 - - - - - - -
?/? c.925A>G r.(?) p.(Ile309Val) g.23646942T>C Copied from the Exome Variant Server PALB2_000125 126/12994 0/8600 126/4394 - - - - - - -
?/? c.929G>A r.(?) p.(Ser310Asn) g.23646938C>T Copied from the Exome Variant Server PALB2_000124 1/12994 0/8600 1/4394 - - - - - - -
?/? c.995T>A r.(?) p.(Leu332His) g.23646872A>T Copied from the Exome Variant Server PALB2_000123 1/12992 1/8598 0/4394 - - - - - - -
?/? c.1001A>G r.(?) p.(Tyr334Cys) g.23646866T>C Copied from the Exome Variant Server PALB2_000122 2/12994 2/8600 0/4394 - - - - - - -
?/? c.1010T>C r.(?) p.(Leu337Ser) g.23646857A>G Copied from the Exome Variant Server PALB2_000121 185/12994 169/8600 16/4394 - - - - - - -
?/? c.1042C>A r.(?) p.(Gln348Lys) g.23646825G>T Copied from the Exome Variant Server PALB2_000120 2/12994 2/8600 0/4394 - - - - - - -
?/? c.1050_1053del r.(?) p.(Thr351Argfs*4) g.23646814_23646817del Copied from the Exome Variant Server PALB2_000119 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1123C>A r.(?) p.(Leu375Ile) g.23646744G>T Copied from the Exome Variant Server PALB2_000118 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1156A>G r.(?) p.(Thr386Ala) g.23646711T>C Copied from the Exome Variant Server PALB2_000117 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1189A>T r.(?) p.(Thr397Ser) g.23646678T>A Copied from the Exome Variant Server PALB2_000116 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1194G>A r.(=) p.(=) g.23646673C>T Copied from the Exome Variant Server PALB2_000115 20/12994 20/8600 0/4394 - - - - - - -
?/? c.1212T>G r.(?) p.(Phe404Leu) g.23646655A>C Copied from the Exome Variant Server PALB2_000114 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1281T>C r.(=) p.(=) g.23646586A>G Copied from the Exome Variant Server PALB2_000113 3/12990 0/8600 3/4390 - - - - - - -
?/? c.1317del r.(?) p.(Phe440Leufs*12) g.23646550del Copied from the Exome Variant Server PALB2_000112 8/12486 3/8246 5/4240 - - - - - - -
?/? c.1337A>T r.(?) p.(Asp446Val) g.23646530T>A Copied from the Exome Variant Server PALB2_000111 3/12988 0/8598 3/4390 - - - - - - -
?/? c.1380A>G r.(=) p.(=) g.23646487T>C Copied from the Exome Variant Server PALB2_000110 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1419A>C r.(=) p.(=) g.23646448T>G Copied from the Exome Variant Server PALB2_000109 37/12994 0/8600 37/4394 - - - - - - -
?/? c.1446C>G r.(=) p.(=) g.23646421G>C Copied from the Exome Variant Server PALB2_000108 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1470C>T r.(=) p.(=) g.23646397G>A Copied from the Exome Variant Server PALB2_000107 2/12994 0/8600 2/4394 - - - - - - -
?/? c.1491T>G r.(?) p.(Asn497Lys) g.23646376A>C Copied from the Exome Variant Server PALB2_000106 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1506G>C r.(?) p.(Lys502Asn) g.23646361C>G Copied from the Exome Variant Server PALB2_000105 2/12994 2/8600 0/4394 - - - - - - -
?/? c.1545A>G r.(=) p.(=) g.23646322T>C Copied from the Exome Variant Server PALB2_000104 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1564C>T r.(?) p.(Pro522Ser) g.23646303G>A Copied from the Exome Variant Server PALB2_000103 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1572A>G r.(=) p.(=) g.23646295T>C Copied from the Exome Variant Server PALB2_000102 44/12994 39/8600 5/4394 - - - - - - -
?/? c.1606C>T r.(=) p.(=) g.23646261G>A Copied from the Exome Variant Server PALB2_000101 25/12994 0/8600 25/4394 - - - - - - -
?/? c.1610C>T r.(?) p.(Ser537Leu) g.23646257G>A Copied from the Exome Variant Server PALB2_000100 2/12994 2/8600 0/4394 - - - - - - -
?/? c.1628A>G r.(?) p.(Lys543Arg) g.23646239T>C Copied from the Exome Variant Server PALB2_000099 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1637T>C r.(?) p.(Val546Ala) g.23646230A>G Copied from the Exome Variant Server PALB2_000098 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1655A>G r.(?) p.(Gln552Arg) g.23646212T>C Copied from the Exome Variant Server PALB2_000097 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1659C>G r.(?) p.(His553Gln) g.23646208G>C Copied from the Exome Variant Server PALB2_000096 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1660G>A r.(?) p.(Glu554Lys) g.23646207C>T Copied from the Exome Variant Server PALB2_000095 1/12994 0/8600 1/4394 - - - - - - -
?/? c.1676A>G r.(?) p.(Gln559Arg) g.23646191T>C Copied from the Exome Variant Server PALB2_000094 1752/12994 782/8600 970/4394 - - - - - - -
?/? c.1684+29A>G r.(=) p.(=) g.23646154T>C Copied from the Exome Variant Server PALB2_000093 284/12988 2/8594 282/4394 - - - - - - -
?/? c.1684+41_1684+42insTGA r.(=) p.(=) g.23646141_23646142insTCA Copied from the Exome Variant Server PALB2_000092 40/12504 30/8242 10/4262 - - - - - - -
?/? c.1698T>C r.(=) p.(=) g.23641777A>G Copied from the Exome Variant Server PALB2_000091 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1699C>T r.(?) p.(His567Tyr) g.23641776G>A Copied from the Exome Variant Server PALB2_000090 1/12994 1/8600 0/4394 - - - - - - -
?/? c.1794G>A r.(=) p.(=) g.23641681C>T Copied from the Exome Variant Server PALB2_000089 2/12994 0/8600 2/4394 - - - - - - -
?/? c.1810C>T r.(=) p.(=) g.23641665G>A Copied from the Exome Variant Server PALB2_000088 30/12994 0/8600 30/4394 - - - - - - -
?/? c.1881G>T r.(=) p.(=) g.23641594C>A Copied from the Exome Variant Server PALB2_000087 2/12994 2/8600 0/4394 - - - - - - -
?/? c.1920A>T r.(=) p.(=) g.23641555T>A Copied from the Exome Variant Server PALB2_000086 1/12984 1/8600 0/4384 - - - - - - -
?/? c.1935G>A r.(=) p.(=) g.23641540C>T Copied from the Exome Variant Server PALB2_000085 3/12988 0/8600 3/4388 - - - - - - -
?/? c.1967C>T r.(?) p.(Pro656Leu) g.23641508G>A Copied from the Exome Variant Server PALB2_000084 1/12994 1/8600 0/4394 - - - - - - -
?/? c.2014G>C r.(?) p.(Glu672Gln) g.23641461C>G Copied from the Exome Variant Server PALB2_000083 302/12994 271/8600 31/4394 - - - - - - -
?/? c.2032C>T r.(=) p.(=) g.23641443G>A Copied from the Exome Variant Server PALB2_000082 1/12994 0/8600 1/4394 - - - - - - -
?/? c.2034A>G r.(=) p.(=) g.23641441T>C Copied from the Exome Variant Server PALB2_000081 2/12994 0/8600 2/4394 - - - - - - -
?/? c.2067G>A r.(=) p.(=) g.23641408C>T Copied from the Exome Variant Server PALB2_000080 2/12994 1/8600 1/4394 - - - - - - -
?/? c.2135C>T r.(?) p.(Ala712Val) g.23641340G>A Copied from the Exome Variant Server PALB2_000079 8/12994 8/8600 0/4394 - - - - - - -
?/? c.2147A>G r.(?) p.(Asn716Ser) g.23641328T>C Copied from the Exome Variant Server PALB2_000078 1/12994 1/8600 0/4394 - - - - - - -
?/? c.2208C>A r.(=) p.(=) g.23641267G>T Copied from the Exome Variant Server PALB2_000077 1/12994 1/8600 0/4394 - - - - - - -
?/? c.2234A>G r.(?) p.(Lys745Arg) g.23641241T>C Copied from the Exome Variant Server PALB2_000076 1/12994 0/8600 1/4394 - - - - - - -
?/? c.2253T>C r.(=) p.(=) g.23641222A>G Copied from the Exome Variant Server PALB2_000075 2/12994 0/8600 2/4394 - - - - - - -
?/? c.2256A>G r.(=) p.(=) g.23641219T>C Copied from the Exome Variant Server PALB2_000074 24/12994 0/8600 24/4394 - - - - - - -
?/? c.2328C>T r.(=) p.(=) g.23641147G>A Copied from the Exome Variant Server PALB2_000073 1/12994 0/8600 1/4394 - - - - - - -
?/? c.2365C>T r.(=) p.(=) g.23641110G>A Copied from the Exome Variant Server PALB2_000072 11/12994 0/8600 11/4394 - - - - - - -
?/? c.2379C>T r.(=) p.(=) g.23641096G>A Copied from the Exome Variant Server PALB2_000071 1/12994 1/8600 0/4394 - - - - - - -
?/? c.2411C>T r.(?) p.(Ser804Phe) g.23641064G>A Copied from the Exome Variant Server PALB2_000070 1/12994 1/8600 0/4394 - - - - - - -
Legend   « First ‹ Prev     1 2     Next › Last »