Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr5

140502733

C

T

PCDHB4

c.1153C>T

p.Pro385Ser

rs17844411

chr5

127685135

C

T

FBN2

c.2893G>A

p.Val965Ile

rs154001

chr5

127622491

T

C

FBN2

c.6931A>G

p.Met2311Val

rs32209

chr5

94861118

G

C

TTC37

c.1309C>G

p.Leu437Val

rs17084873

chr5

94826655

C

A

TTC37

c.3888G>T

p.Arg1296Ser

rs2303650

chr5

82837631

G

T

VCAN

c.8809G>T

p.Asp2937Tyr

rs160277

chr5

82835724

T

A

VCAN

c.6902T>A

p.Phe2301Tyr

rs160278

chr5

82834299

G

A

VCAN

c.5477G>A

p.Arg1826His

rs188703

chr5

82833369

A

G

VCAN

c.4547A>G

p.Lys1516Arg

rs309559

chr5

13944512

A

C

DNAH5

c.36T>G

p.His12Gln

rs339445

chr5

13931340

C

T

DNAH5

c.71G>A

p.Gly24Glu

rs1530496

chr5

13902220

T

C

DNAH5

c.1672A>G

p.Thr558Ala

rs1530498

chr5

13811775

T

C

DNAH5

c.7388A>G

p.Gln2463Arg

rs10078391

chr5

13788886

C

A

DNAH5

c.8586G>T

p.Leu2862Phe

rs10513155

chr5

13737444

G

A

DNAH5

c.11372C>T

p.Thr3791Ile

rs17263496

chr5

13719089

G

A

DNAH5

c.12401C>T

p.Ala4134Val

rs30168

chr5

13719018

G

A

DNAH5

c.12472C>T

p.Arg4158Trp

rs3756672

chr5

13708284

C

T

DNAH5

c.13286G>A

p.Arg4429Gln

rs61744047

chr5

13701536

T

C

DNAH5

c.13348A>G

p.Ile4450Val

rs3734110

chr4

170398454

T

C

NEK1

c.2255A>G

p.Glu752Gly

rs34099167