Unique variants in gene PKP2

Information The variants shown are described using the NM_004572.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.224-7459T>C - - g.32886491A>G - PKP2_000008 rs11052286 0.6485 147 146 Admin
./. 1 - c.1170+7337G>A - - g.32861590C>T - PKP2_000007 rs2168207 0.2147 112 17 Admin
./. 1 - c.1171-8289G>A - - g.32859262C>T - PKP2_000006 rs7963225 0.1662 99 7 Admin
./. 1 - c.1171-3213G>A - - g.32854186C>T - PKP2_000005 rs17543736 0.8426 61 255 Admin
./. 1 - c.1378+3699T>C - - g.32847067A>G - PKP2_000004 rs7304398 0.3515 143 48 Admin
./. 1 - c.1511-689G>A r.(=) p.(=) g.32841894C>T - PKP2_000003 rs17174558 0.0324 14 4 Admin
./. 1 - c.1688+3212T>G r.(=) p.(=) g.32837816A>C - PKP2_000002 rs16920297 0.0706 26 11 Admin
./. 1 - c.1688+4938T>C - - g.32836090A>G - PKP2_000001 rs994713 0.9544 21 313 Admin
./. 1 - c.1689-7233T>C - - g.32831395A>G - PKP2_000011 rs10844370 0.0662 27 9 Admin
./. 1 - c.2145+410G>A - - g.32820946C>T - PKP2_000010 rs10844367 0.0750 29 11 Admin
./. 1 - c.2145+3714T>C - - g.32817642A>G - PKP2_000009 rs2124152 0.2382 106 28 Admin
./. 1 - c.2145+5368C>A - - g.32815988G>T - PKP2_000019 rs11052261 0.7971 90 225 Admin
./. 1 - c.2145+5955T>C - - g.32815401A>G - PKP2_000018 rs16920249 0.1029 52 9 Admin
./. 1 - c.2146-9106G>A - - g.32811662C>T - PKP2_000022 rs10772004 0.5294 158 101 Admin
./. 1 - c.2146-9014G>A - - g.32811570C>T - PKP2_000021 rs7962334 0.7338 111 193 Admin
./. 1 - c.2146-5173G>A - - g.32807729C>T - PKP2_000020 rs11052256 0.7324 112 192 Admin
./. 1 - c.2146-1886G>A r.(=) p.(=) g.32804442C>T - PKP2_000017 rs11052251 0.7750 81 222 Admin
./. 1 - c.2299+1821T>C - - g.32800582A>G - PKP2_000016 rs7133291 0.1441 68 15 Admin
./. 1 - c.2489+110T>C - - g.32795999A>G - PKP2_000015 rs12228193 0.3853 98 82 Admin
./. 1 - c.2489+828T>C - - g.32795281A>G - PKP2_000014 rs11052236 0.9544 25 311 Admin
./. 1 - c.2489+1484T>C - - g.32794625A>G - PKP2_000013 rs12825217 0.8632 79 253 Admin
./. 1 - c.2490-1527T>C r.(=) p.(=) g.32794258A>G - PKP2_000012 rs3789978 0.1632 79 16 Admin
Legend