Unique variants in gene PLD6

Information The variants shown are described using the NM_178836.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-45A>C r.(=) p.(=) g.17109645T>G Copied from the Exome Variant Server PLD6_000032 5/8534 3/5756 2/2778
1 c.107_109del r.(?) p.(Arg36del) g.17109492_17109494del Copied from the Exome Variant Server PLD6_000031 46/5882 31/4104 15/1778
1 c.293T>G r.(?) p.(Leu98Arg) g.17109308A>C Copied from the Exome Variant Server PLD6_000030 1/12440 1/8248 0/4192
1 c.325G>A r.(?) p.(Ala109Thr) g.17109276C>T Copied from the Exome Variant Server PLD6_000029 1/12722 0/8430 1/4292
1 c.378C>T r.(=) p.(=) g.17109223G>A Copied from the Exome Variant Server PLD6_000028 1/12942 1/8558 0/4384
1 c.428-45G>A r.(=) p.(=) g.17106457C>T Copied from the Exome Variant Server PLD6_000027 8/13006 8/8600 0/4406
1 c.428-43C>A r.(=) p.(=) g.17106455G>T Copied from the Exome Variant Server PLD6_000026 1/13006 1/8600 0/4406
1 c.440G>A r.(?) p.(Arg147Gln) g.17106400C>T Copied from the Exome Variant Server PLD6_000025 1/13006 1/8600 0/4406
1 c.444C>T r.(=) p.(=) g.17106396G>A Copied from the Exome Variant Server PLD6_000024 1/13006 0/8600 1/4406
1 c.495G>C r.(?) p.(Arg165Ser) g.17106345C>G Copied from the Exome Variant Server PLD6_000023 1/13006 1/8600 0/4406
1 c.513G>A r.(=) p.(=) g.17106327C>T Copied from the Exome Variant Server PLD6_000022 84/13006 0/8600 84/4406
1 c.528G>A r.(=) p.(=) g.17106312C>T Copied from the Exome Variant Server PLD6_000021 2/13006 2/8600 0/4406
1 c.549G>A r.(=) p.(=) g.17106291C>T Copied from the Exome Variant Server PLD6_000020 1/13006 0/8600 1/4406
1 c.561C>T r.(=) p.(=) g.17106279G>A Copied from the Exome Variant Server PLD6_000019 267/13006 0/8600 267/4406
1 c.566C>A r.(?) p.(Thr189Lys) g.17106274G>T Copied from the Exome Variant Server PLD6_000018 1/13006 1/8600 0/4406
1 c.573C>T r.(=) p.(=) g.17106267G>A Copied from the Exome Variant Server PLD6_000017 1/13006 1/8600 0/4406
1 c.574G>A r.(?) p.(Asp192Asn) g.17106266C>T Copied from the Exome Variant Server PLD6_000016 2/13006 0/8600 2/4406
1 c.576C>T r.(=) p.(=) g.17106264G>A Copied from the Exome Variant Server PLD6_000015 2/13006 0/8600 2/4406
1 c.582C>T r.(=) p.(=) g.17106258G>A Copied from the Exome Variant Server PLD6_000014 2/13006 0/8600 2/4406
1 c.586C>T r.(?) p.(Arg196Trp) g.17106254G>A Copied from the Exome Variant Server PLD6_000013 2/13006 0/8600 2/4406
1 c.587G>A r.(?) p.(Arg196Gln) g.17106253C>T Copied from the Exome Variant Server PLD6_000012 2/13006 1/8600 1/4406
1 c.611G>A r.(?) p.(Arg204His) g.17106229C>T Copied from the Exome Variant Server PLD6_000011 1/13006 0/8600 1/4406
1 c.622C>G r.(?) p.(Gln208Glu) g.17106218G>C Copied from the Exome Variant Server PLD6_000010 3/13006 0/8600 3/4406
1 c.670G>A r.(?) p.(Gly224Arg) g.17106170C>T Copied from the Exome Variant Server PLD6_000009 1/13006 1/8600 0/4406
1 c.682C>G r.(?) p.(Pro228Ala) g.17106158G>C Copied from the Exome Variant Server PLD6_000008 1/13006 1/8600 0/4406
1 c.692C>T r.(?) p.(Ser231Phe) g.17106148G>A Copied from the Exome Variant Server PLD6_000007 7/13006 7/8600 0/4406
1 c.710T>A r.(?) p.(Leu237*) g.17106130A>T Copied from the Exome Variant Server PLD6_000006 4/13006 4/8600 0/4406
1 c.716C>T r.(?) p.(Ser239Leu) g.17106124G>A Copied from the Exome Variant Server PLD6_000005 1/13006 0/8600 1/4406
1 c.734G>A r.(?) p.(Gly245Asp) g.17106106C>T Copied from the Exome Variant Server PLD6_000004 1/13006 1/8600 0/4406
1 c.744C>T r.(=) p.(=) g.17106096G>A Copied from the Exome Variant Server PLD6_000003 1/13006 1/8600 0/4406
1 c.*7A>C r.(=) p.(=) g.17106074T>G Copied from the Exome Variant Server PLD6_000002 1/13006 1/8600 0/4406
1 c.*38G>A r.(=) p.(=) g.17106043C>T Copied from the Exome Variant Server PLD6_000001 1/13006 0/8600 1/4406
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