Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr5

13894894

T

A

missense_variant

DNAH5

c.2296A>T

p.Ile766Leu

chr5

13788886

C

A

missense_variant

DNAH5

c.8586G>T

p.Leu2862Phe

chr5

13719089

G

A

missense_variant

DNAH5

c.12401C>T

p.Ala4134Val

chr5

13701536

T

C

missense_variant

DNAH5

c.13348A>G

p.Ile4450Val

chr4

170398454

T

C

missense_variant

NEK1

c.2255A>G

p.Glu752Gly

chr4

167020644

A

G

missense_variant

TLL1

c.2872A>G

p.Thr958Ala

chr4

5785442

G

A

missense_variant

EVC

c.1727G>A

p.Arg576Gln

chr4

5755542

C

A

missense_variant

EVC

c.1346C>A

p.Thr449Lys

chr4

5743512

T

C

missense_variant

EVC

c.772T>C

p.Tyr258His

chr4

5690902

T

C

missense_variant

EVC2

c.688A>G

p.Ser230Gly

chr4

5624670

T

C

missense_variant

EVC2

c.2095A>G

p.Thr699Ala

chr3

129214302

G

A

missense_variant

IFT122

c.2213G>A

p.Arg738Gln

chr3

129195166

G

T

missense_variant

IFT122

c.978G>T

p.Lys326Asn

chr3

123457893

G

A

missense_variant

MYLK

c.439C>T

p.Pro147Ser

chr3

123453061

A

G

missense_variant

MYLK

c.782T>C

p.Val261Ala

chr3

123451773

G

C

missense_variant

MYLK

c.1486C>G

p.Leu496Val

chr3

123419733

A

G

missense_variant

MYLK

c.2582T>C

p.Leu861Pro

chr3

123419573

G

T

missense_variant

MYLK

c.2742C>A

p.Asp914Glu

chr3

123419116

GTTC

G

inframe_deletion

MYLK

c.3196_3198delGAA

p.Glu1066del

chr3

119133183

G

A

missense_variant

ARHGAP31

c.2407G>A

p.Gly803Ser