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Table 1 A list of damaging (in silico) germline variants in PV patients detected by exome sequencing (three cases)

From: Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera

Gene

Ensembl gene

Ensembl transcript

Genomic location

Variation, cDNA

Variation, protein

ZXDC*

ENSG00000070476

ENST00000389709

Chr3: 126189754

c.1254C > G

p.Phe418Leu

ATN1*

ENSG00000111676

ENST00000356654

Chr12: 7046361

c.1931C > G

p.Pro644Arg

LRRC3*

ENSG00000160233

ENST00000291592

Chr21: 45877228

c.701G > A, rs148872771

p.Arg234Gln

GNL3

ENSG00000163938

ENST00000418458

Chr3: 52727477

c.1241A > G

p.Tyr414Cys

MDC1

ENSG00000137337

ENST00000376406

Chr6: 30679188

c.2221-1G > T

splice site variant

ITPR3

ENSG00000096433

ENST00000374316

Chr6: 33635026

c.1672C > T, rs780906252

p.Arg558Cys

FAM135A

ENSG00000082269

ENST00000418814

Chr6: 71190668

c.607G > A, rs143901584

p.Val203Met

SLC2A12

ENSG00000146411

ENST00000275230

Chr6: 134312391

c.1756C > T, rs200847615

p.Pro586Ser

WDR86

ENSG00000187260

ENST00000334493

Chr7: 151097265

c.226G > A, rs199824863

p.Asp76Asn

CSMD1

ENSG00000183117

ENST00000537824

Chr8: 3165238

c.3929C > T

p.Ala1310Val

SLC24A2

ENSG00000155886

ENST00000341998

Chr9: 19786283

c.582A > G, rs368590535

p.Ile194Met

ITPKC

ENSG00000086544

ENST00000263370

Chr19: 41224132

c.1092C > G, rs143757004

p.Asp364Glu

  1. The three shared variants in all four cases are marked with an asterisk. Genome assembly: GRCh37
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Human Genomics

ISSN: 1479-7364