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Table 2 Expressed sequence variants identified in VPS9D1

From: An integrated transcriptome and expressed variant analysis of sepsis survival and death

Chromosome (Start:Stop)

Variant type

Reference allele

Variant allele

cDNA change

Protein change

Variant impact

Reference SNP ID

Sepsis non-survivors

Sepsis survivors

16 (89774899:89774899)

Substitution

G

T

c.1738C > A

p.Leu580Met

Non-synonymous

rs182342705

0/20

0/69

16 (89775352:89775352)

Substitution

C

T

c.1610G > A

p.Arg537Gln

Non-synonymous

 

0/6

1/27

16 (89775776:89775776)

Substitution

T

G

c.1456A > C

p.Thr486Pro

Non-synonymous

 

2/26

30/74

16 (89777078:89777078)

Substitution

G

A

c.1174C > T

p.Arg392Trp

Non-synonymous

rs56288641

0/20

2/67

16 (89777123:89777123)

Substitution

C

T

c.1129G > A

p.Asp377Asn

Non-synonymous

rs148694296

0/23

1/68

16 (89777306:89777306)

Substitution

G

T

c.946C > A

p.Pro316Thr

Non-synonymous

 

0/25

2/76

16 (89777337:89777337)

Substitution

T

A

c.915A > T

p.Arg305Ser

Non-synonymous

 

0/15

2/67

16 (89777338:89777338)

Substitution

C

G

c.914G > C

p.Arg305Thr

Non-synonymous

 

0/16

2/66

16 (89777386:89777386)

Substitution

C

G

c.866G > C

p.Arg289Thr

Non-synonymous

 

0/23

2/74

16 (89777387:89777387)

Substitution

T

C

c.865A > G

p.Arg289Gly

Non-synonymous

 

0/23

2/74

  1. A given subject may harbor more than one variant. Multiple transcripts and corresponding proteins exist for VPS9D1. cDNA and protein changes are based on VPS9D1 transcript NM_004913.2 and protein NP_004904.2.