All transcript variants in gene PCDHGA2

Information The variants shown are described using the NM_018915.2 transcript reference sequence.

2120 entries on 22 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     
?/? c.14A>G r.(?) p.(Gln5Arg) g.140718552A>G Copied from the Exome Variant Server PCDHGA1_000097 173/13000 0/8596 173/4404
?/? c.16A>C r.(?) p.(Lys6Gln) g.140718554A>C Copied from the Exome Variant Server PCDHGA1_000087 1/13004 1/8598 0/4406
?/? c.28T>C r.(?) p.(Cys10Arg) g.140718566T>C Copied from the Exome Variant Server PCDHGA1_000089 56/13006 48/8600 8/4406
?/? c.40G>A r.(?) p.(Val14Ile) g.140718578G>A Copied from the Exome Variant Server PCDHGA1_000092 1/13006 0/8600 1/4406
?/? c.63G>T r.(=) p.(=) g.140718601G>T Copied from the Exome Variant Server PCDHGA1_000094 2/13006 2/8600 0/4406
?/? c.144C>G r.(?) p.(Ile48Met) g.140718682C>G Copied from the Exome Variant Server PCDHGA1_000096 1/13006 0/8600 1/4406
?/? c.181G>C r.(?) p.(Glu61Gln) g.140718719G>C Copied from the Exome Variant Server PCDHGA1_000098 1/13006 0/8600 1/4406
?/? c.183G>A r.(=) p.(=) g.140718721G>A Copied from the Exome Variant Server PCDHGA1_000099 1/13006 1/8600 0/4406
?/? c.212G>T r.(?) p.(Arg71Met) g.140718750G>T Copied from the Exome Variant Server PCDHGA1_000100 175/13006 0/8600 175/4406
?/? c.213G>A r.(=) p.(=) g.140718751G>A Copied from the Exome Variant Server PCDHGA1_000101 1/13006 0/8600 1/4406
?/? c.253G>A r.(?) p.(Val85Ile) g.140718791G>A Copied from the Exome Variant Server PCDHGA1_000102 1/13006 1/8600 0/4406
?/? c.260C>A r.(?) p.(Ala87Glu) g.140718798C>A Copied from the Exome Variant Server PCDHGA1_000103 1/13006 0/8600 1/4406
?/? c.261G>A r.(=) p.(=) g.140718799G>A Copied from the Exome Variant Server PCDHGA1_000104 17/13006 0/8600 17/4406
?/? c.298G>T r.(?) p.(Ala100Ser) g.140718836G>T Copied from the Exome Variant Server PCDHGA1_000105 1/13006 0/8600 1/4406
?/? c.345_348del r.(?) p.(Tyr117Glnfs*2) g.140718883_140718886del Copied from the Exome Variant Server PCDHGA1_000106 9/12518 9/8254 0/4264
?/? c.359A>G r.(?) p.(Glu120Gly) g.140718897A>G Copied from the Exome Variant Server PCDHGA1_000107 3/13006 3/8600 0/4406
?/? c.367A>C r.(?) p.(Ile123Leu) g.140718905A>C Copied from the Exome Variant Server PCDHGA1_000108 1/13006 0/8600 1/4406
?/? c.398T>C r.(?) p.(Phe133Ser) g.140718936T>C Copied from the Exome Variant Server PCDHGA1_000109 4/13006 1/8600 3/4406
?/? c.425T>C r.(?) p.(Ile142Thr) g.140718963T>C Copied from the Exome Variant Server PCDHGA1_000110 1/13006 1/8600 0/4406
?/? c.456T>G r.(?) p.(Ile152Met) g.140718994T>G Copied from the Exome Variant Server PCDHGA1_000111 1/13006 1/8600 0/4406
?/? c.458C>T r.(?) p.(Pro153Leu) g.140718996C>T Copied from the Exome Variant Server PCDHGA1_000112 1/13006 0/8600 1/4406
?/? c.470C>A r.(?) p.(Ala157Glu) g.140719008C>A Copied from the Exome Variant Server PCDHGA1_000113 1/13006 1/8600 0/4406
?/? c.471G>C r.(=) p.(=) g.140719009G>C Copied from the Exome Variant Server PCDHGA1_000114 1/13006 0/8600 1/4406
?/? c.507G>A r.(=) p.(=) g.140719045G>A Copied from the Exome Variant Server PCDHGA1_000115 126/13006 0/8600 126/4406
?/? c.528C>T r.(=) p.(=) g.140719066C>T Copied from the Exome Variant Server PCDHGA1_000116 1/13006 0/8600 1/4406
?/? c.552G>A r.(=) p.(=) g.140719090G>A Copied from the Exome Variant Server PCDHGA1_000117 1781/13006 1365/8600 416/4406
?/? c.604C>G r.(?) p.(Arg202Gly) g.140719142C>G Copied from the Exome Variant Server PCDHGA1_000118 1/13006 0/8600 1/4406
?/? c.635T>C r.(?) p.(Leu212Pro) g.140719173T>C Copied from the Exome Variant Server PCDHGA1_000119 1/13006 0/8600 1/4406
?/? c.638T>C r.(?) p.(Val213Ala) g.140719176T>C Copied from the Exome Variant Server PCDHGA1_000120 1/13006 0/8600 1/4406
?/? c.653G>T r.(?) p.(Gly218Val) g.140719191G>T Copied from the Exome Variant Server PCDHGA1_000121 1/13006 1/8600 0/4406
?/? c.686G>A r.(?) p.(Cys229Tyr) g.140719224G>A Copied from the Exome Variant Server PCDHGA1_000122 95/13006 87/8600 8/4406
?/? c.692A>G r.(?) p.(Lys231Arg) g.140719230A>G Copied from the Exome Variant Server PCDHGA1_000123 2/13006 0/8600 2/4406
?/? c.745A>T r.(?) p.(Ile249Leu) g.140719283A>T Copied from the Exome Variant Server PCDHGA1_000124 57/13006 49/8600 8/4406
?/? c.749G>A r.(?) p.(Ser250Asn) g.140719287G>A Copied from the Exome Variant Server PCDHGA1_000125 5/13006 0/8600 5/4406
?/? c.778C>G r.(?) p.(Arg260Gly) g.140719316C>G Copied from the Exome Variant Server PCDHGA1_000126 1/13004 1/8598 0/4406
?/? c.779G>A r.(?) p.(Arg260Gln) g.140719317G>A Copied from the Exome Variant Server PCDHGA1_000127 1/13004 1/8598 0/4406
?/? c.793A>G r.(?) p.(Thr265Ala) g.140719331A>G Copied from the Exome Variant Server PCDHGA1_000128 2/13006 1/8600 1/4406
?/? c.880_881insTTAA r.(?) p.(Lys295Asnfs*2) g.140719418_140719419insTTAA Copied from the Exome Variant Server PCDHGA1_000129 1/12518 1/8254 0/4264
?/? c.892T>C r.(?) p.(Ser298Pro) g.140719430T>C Copied from the Exome Variant Server PCDHGA1_000130 1/13006 1/8600 0/4406
?/? c.903G>A r.(=) p.(=) g.140719441G>A Copied from the Exome Variant Server PCDHGA1_000131 15/13006 0/8600 15/4406
?/? c.925T>A r.(?) p.(Tyr309Asn) g.140719463T>A Copied from the Exome Variant Server PCDHGA1_000132 1/13006 0/8600 1/4406
?/? c.940T>C r.(?) p.(Phe314Leu) g.140719478T>C Copied from the Exome Variant Server PCDHGA1_000133 2/13006 2/8600 0/4406
?/? c.966G>C r.(?) p.(Gln322His) g.140719504G>C Copied from the Exome Variant Server PCDHGA1_000135 1/13006 1/8600 0/4406
?/? c.974C>T r.(?) p.(Pro325Leu) g.140719512C>T Copied from the Exome Variant Server PCDHGA1_000137 1/13006 1/8600 0/4406
?/? c.1002C>A r.(=) p.(=) g.140719540C>A Copied from the Exome Variant Server PCDHGA1_000139 1/13006 0/8600 1/4406
?/? c.1004T>A r.(?) p.(Val335Asp) g.140719542T>A Copied from the Exome Variant Server PCDHGA1_000141 2/13006 0/8600 2/4406
?/? c.1014G>T r.(=) p.(=) g.140719552G>T Copied from the Exome Variant Server PCDHGA1_000143 3/13006 3/8600 0/4406
?/? c.1018G>A r.(?) p.(Val340Met) g.140719556G>A Copied from the Exome Variant Server PCDHGA1_000145 5/13006 4/8600 1/4406
?/? c.1021_1026del r.(?) p.(Asp342_Asn343del) g.140719559_140719564del Copied from the Exome Variant Server PCDHGA1_000147 6/12518 0/8254 6/4264
?/? c.1031C>T r.(?) p.(Ala344Val) g.140719569C>T Copied from the Exome Variant Server PCDHGA1_000149 1/13006 0/8600 1/4406
?/? c.1060A>G r.(?) p.(Ser354Gly) g.140719598A>G Copied from the Exome Variant Server PCDHGA1_000151 7/13006 0/8600 7/4406
?/? c.1061G>C r.(?) p.(Ser354Thr) g.140719599G>C Copied from the Exome Variant Server PCDHGA1_000134 1/13006 0/8600 1/4406
?/? c.1095A>G r.(?) p.(Ile365Met) g.140719633A>G Copied from the Exome Variant Server PCDHGA1_000136 1/13006 1/8600 0/4406
?/? c.1110T>C r.(=) p.(=) g.140719648T>C Copied from the Exome Variant Server PCDHGA1_000138 1/13006 1/8600 0/4406
?/? c.1156C>T r.(?) p.(Leu386Phe) g.140719694C>T Copied from the Exome Variant Server PCDHGA1_000140 1/13006 1/8600 0/4406
?/? c.1258A>G r.(?) p.(Ile420Val) g.140719796A>G Copied from the Exome Variant Server PCDHGA1_000142 8/13006 0/8600 8/4406
?/? c.1271del r.(?) p.(Ala424Valfs*51) g.140719809del Copied from the Exome Variant Server PCDHGA1_000144 1/12518 1/8254 0/4264
?/? c.1286A>T r.(?) p.(Asn429Ile) g.140719824A>T Copied from the Exome Variant Server PCDHGA1_000146 31/13006 0/8600 31/4406
?/? c.1288C>A r.(?) p.(Pro430Thr) g.140719826C>A Copied from the Exome Variant Server PCDHGA1_000148 1/13006 1/8600 0/4406
?/? c.1293C>A r.(=) p.(=) g.140719831C>A Copied from the Exome Variant Server PCDHGA1_000150 1/13006 1/8600 0/4406
?/? c.1302G>A r.(=) p.(=) g.140719840G>A Copied from the Exome Variant Server PCDHGA1_000152 1/13006 0/8600 1/4406
?/? c.1328C>T r.(?) p.(Ala443Val) g.140719866C>T Copied from the Exome Variant Server PCDHGA1_000153 1/13006 1/8600 0/4406
?/? c.1346C>T r.(?) p.(Ala449Val) g.140719884C>T Copied from the Exome Variant Server PCDHGA1_000154 1/13006 0/8600 1/4406
?/? c.1360C>T r.(?) p.(Arg454Cys) g.140719898C>T Copied from the Exome Variant Server PCDHGA1_000155 4/13006 4/8600 0/4406
?/? c.1403G>A r.(?) p.(Gly468Glu) g.140719941G>A Copied from the Exome Variant Server PCDHGA1_000156 3/13006 3/8600 0/4406
?/? c.1418C>G r.(?) p.(Ser473*) g.140719956C>G Copied from the Exome Variant Server PCDHGA1_000157 1/13006 0/8600 1/4406
?/? c.1425G>C r.(=) p.(=) g.140719963G>C Copied from the Exome Variant Server PCDHGA1_000158 1/13006 0/8600 1/4406
?/? c.1437C>T r.(=) p.(=) g.140719975C>T Copied from the Exome Variant Server PCDHGA1_000159 90/13006 83/8600 7/4406
?/? c.1453G>A r.(?) p.(Ala485Thr) g.140719991G>A Copied from the Exome Variant Server PCDHGA1_000160 2/13006 2/8600 0/4406
?/? c.1465T>C r.(?) p.(Tyr489His) g.140720003T>C Copied from the Exome Variant Server PCDHGA1_000161 1/13006 1/8600 0/4406
?/? c.1492G>C r.(?) p.(Gly498Arg) g.140720030G>C Copied from the Exome Variant Server PCDHGA1_000162 5/13006 5/8600 0/4406
?/? c.1534G>A r.(?) p.(Gly512Arg) g.140720072G>A Copied from the Exome Variant Server PCDHGA1_000163 1/13006 1/8600 0/4406
?/? c.1540C>T r.(?) p.(Leu514Phe) g.140720078C>T Copied from the Exome Variant Server PCDHGA1_000164 2/13006 0/8600 2/4406
?/? c.1542C>T r.(=) p.(=) g.140720080C>T Copied from the Exome Variant Server PCDHGA1_000165 1/13006 1/8600 0/4406
?/? c.1572G>T r.(?) p.(Gln524His) g.140720110G>T Copied from the Exome Variant Server PCDHGA1_000166 2/13006 2/8600 0/4406
?/? c.1582T>A r.(?) p.(Leu528Met) g.140720120T>A Copied from the Exome Variant Server PCDHGA1_000167 1/13006 0/8600 1/4406
?/? c.1602G>A r.(=) p.(=) g.140720140G>A Copied from the Exome Variant Server PCDHGA1_000168 2/13006 2/8600 0/4406
?/? c.1604G>A r.(?) p.(Arg535Gln) g.140720142G>A Copied from the Exome Variant Server PCDHGA1_000169 42/13006 0/8600 42/4406
?/? c.1606G>T r.(?) p.(Asp536Tyr) g.140720144G>T Copied from the Exome Variant Server PCDHGA1_000170 3/13006 3/8600 0/4406
?/? c.1629T>C r.(=) p.(=) g.140720167T>C Copied from the Exome Variant Server PCDHGA1_000171 4/13006 4/8600 0/4406
?/? c.1645A>C r.(?) p.(Ser549Arg) g.140720183A>C Copied from the Exome Variant Server PCDHGA1_000172 1/13006 0/8600 1/4406
?/? c.1653C>G r.(?) p.(Phe551Leu) g.140720191C>G Copied from the Exome Variant Server PCDHGA1_000173 3/13006 3/8600 0/4406
?/? c.1674C>T r.(=) p.(=) g.140720212C>T Copied from the Exome Variant Server PCDHGA1_000174 3/13006 2/8600 1/4406
?/? c.1695T>C r.(=) p.(=) g.140720233T>C Copied from the Exome Variant Server PCDHGA1_000175 3/13006 0/8600 3/4406
?/? c.1699T>C r.(?) p.(Phe567Leu) g.140720237T>C Copied from the Exome Variant Server PCDHGA1_000176 2/13006 0/8600 2/4406
?/? c.1703C>G r.(?) p.(Pro568Arg) g.140720241C>G Copied from the Exome Variant Server PCDHGA1_000177 1/13006 1/8600 0/4406
?/? c.1711G>T r.(?) p.(Gly571Cys) g.140720249G>T Copied from the Exome Variant Server PCDHGA1_000178 1/13006 1/8600 0/4406
?/? c.1719T>C r.(=) p.(=) g.140720257T>C Copied from the Exome Variant Server PCDHGA1_000179 39/13006 0/8600 39/4406
?/? c.1734G>T r.(=) p.(=) g.140720272G>T Copied from the Exome Variant Server PCDHGA1_000180 1/13006 0/8600 1/4406
?/? c.1737C>T r.(=) p.(=) g.140720275C>T Copied from the Exome Variant Server PCDHGA1_000181 5/13006 4/8600 1/4406
?/? c.1779G>T r.(=) p.(=) g.140720317G>T Copied from the Exome Variant Server PCDHGA1_000182 6/13002 6/8596 0/4406
?/? c.1783G>A r.(?) p.(Asp595Asn) g.140720321G>A Copied from the Exome Variant Server PCDHGA1_000183 46/13004 0/8598 46/4406
?/? c.1820A>G r.(?) p.(His607Arg) g.140720358A>G Copied from the Exome Variant Server PCDHGA1_000184 121/13004 1/8598 120/4406
?/? c.1827C>G r.(=) p.(=) g.140720365C>G Copied from the Exome Variant Server PCDHGA1_000185 6/13002 5/8596 1/4406
?/? c.1836C>A r.(?) p.(Ser612Arg) g.140720374C>A Copied from the Exome Variant Server PCDHGA1_000186 1/13002 1/8596 0/4406
?/? c.1841C>A r.(?) p.(Pro614Gln) g.140720379C>A Copied from the Exome Variant Server PCDHGA1_000187 4/13000 0/8596 4/4404
?/? c.1842G>A r.(=) p.(=) g.140720380G>A Copied from the Exome Variant Server PCDHGA1_000188 3/12998 3/8596 0/4402
?/? c.1868C>T r.(?) p.(Thr623Met) g.140720406C>T Copied from the Exome Variant Server PCDHGA1_000189 2/12950 1/8560 1/4390
?/? c.1880G>A r.(?) p.(Arg627His) g.140720418G>A Copied from the Exome Variant Server PCDHGA1_000190 3/12970 0/8578 3/4392
?/? c.1926C>A r.(=) p.(=) g.140720464C>A Copied from the Exome Variant Server PCDHGA1_000191 9/12998 9/8596 0/4402
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