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Table 2 Mutations identified by exon-capture sequencing

From: A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family

Variants

Rs_ID

MAF-dbSNP

MAF-HapMap

MAF-1K project

MAF-in-house

p.Arg371Gly

rs612969

0.5

0.394

0.4432

0.3892

p.Ala495Ala

rs536069

0.629

0.533

0.6007

0.4627

p.Ile752Ile

rs10502247

0.449

0.474

0.402

0.4988

p.Val932Ala

rs520805

-

0.387

0.3526

0.3843

p.Tyr935Tyr

rs586473

0.588

0.504

0.5696

0.4663

p.Ser1724Asn

rs526433

-

0.993

0.9936

0.9964

p.Ser1878Ser

rs2155369

-

0.314

0.2244

0.4181

p.Asp2006Tyr

novel

-

-

0

0

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BMC Medical Genetics

ISSN: 1471-2350

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