Viện nghiên cứu hệ gen

9371 matching variants

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CHROM

POS

REF

ALT

Gene

HGVS.c

HGVS.p

dbSNP142 ID

chr16

51171175

C

T

missense_variant

SALL1

c.3823G>A

p.Val1275Ile

chr16

46773999

C

A

missense_variant

MYLK3

c.538G>T

p.Val180Leu

chr16

30735751

C

T

missense_variant

SRCAP

c.5006C>T

p.Pro1669Leu

chr16

16271357

T

C

missense_variant

ABCC6

c.2542A>G

p.Met848Val

chr16

15820863

C

T

missense_variant

MYH11

c.3721G>A

p.Ala1241Thr

chr16

2164808

C

T

missense_variant

PKD1

c.2216G>A

p.Arg739Gln

chr16

1616201

C

T

missense_variant

IFT140

c.1862G>A

p.Arg621Gln

chr16

1573890

G

A

missense_variant

IFT140

c.3209C>T

p.Ala1070Val

chr16

336916

C

T

missense_variant

PDIA2

c.1504C>T

p.Pro502Ser

chr15

90320134

AGGGCAGGGGCAG

A

disruptive_inframe_deletion

MESP2

c.558_569delGGGGCAGGGGCA

p.Gly187_Gln190del

chr15

90320120

GAGGGGCAGGGGCAAGGGCAGGGGC

G

disruptive_inframe_deletion

MESP2

c.558_581delGGGGCAGGGGCAAGGGCAGGGGCA

p.Gly187_Gln194del

chr15

90294306

C

CACGGGGCTCGG

frameshift_variant

MESP1

c.156_157insCCGAGCCCCGT

p.Ala53fs

chr15

90294304

C

CG

frameshift_variant

MESP1

c.158dupC

p.Ser54fs

chr15

90294281

A

C

missense_variant

MESP1

c.182T>G

p.Leu61Arg

chr15

90191827

T

C

missense_variant

KIF7

c.1102A>G

p.Thr368Ala

chr15

90176073

C

A

missense_variant

KIF7

c.2873G>T

p.Ser958Ile

chr15

90174824

C

T

missense_variant

KIF7

c.3013G>A

p.Gly1005Arg

chr15

74473739

C

T

missense_variant

STRA6

c.1698G>A

p.Met566Ile

chr15

48807637

C

T

missense_variant

FBN1

c.1415G>A

p.Cys472Tyr

chr15

48779530

G

C

missense_variant

FBN1

c.3442C>G

p.Pro1148Ala