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Table 2 Stop gain/nonsynonymous SNPs identified by exome sequencing

From: A G613A missense in the Hutchinson’s progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block

Variant coordinates

SNP ID

Gene

Function

Nucleotide changes

MAF* (%)

chr1:111784045

-

CHI3L2

Nonsynonymous

G-- > A

 

chr1:113162494

rs41283062

CAPZA1

Nonsynonymous

G-- > A

1.380

chr1:114367793

rs140698521

PTPN22

Nonsynonymous

C-- > T

0.064

chr1:156105704

rs56816490

LMNA

Nonsynonymous

G-- > A

 

chr4:2744193

-

TNIP2

Nonsynonymous

A-- > G

 

chr5:63802483

-

RGS7BP

Nonsynonymous

G-- > C

 

chr10:11374607

-

CELF2

-

T-- > A

 

chr11:104768141

rs138698464

CASP12

Nonsynonymous

G-- > A

1.335

chr21:34924550

rs142482063

SON

Nonsynonymous

G-- > T

0.044

chr22:19511925

rs885985

CLDN5

Stop gain

G-- > A

44.631

  1. *,UCSC Genome Browser database. MAF = Minor allele frequency.