Variant Results

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0047747

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0016841

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0032556

chr2:
128393300-128393300

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0191061

C

T

exonic

De novo

synonymous SNV

NM_001080527

c.C5746T

p.L1916L

-

Trost2022 G

MYO7B

SP0010928

chr2:
128379644-128379644

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0161279

C

T

exonic

De novo

nonsynonymous SNV

NM_001080527

c.C3535T

p.R1179C

14.56

-

Trost2022 G

MYO7B

SP0021697

chr2:
128384948-128384948

C

G

intronic

De novo

-

1.165E-5

Trost2022 G

MYO7B

SP0006376

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0014455

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0236102

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0254040

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0010234

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0232017

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0117913

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0134424

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0035148

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0035799

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0031609

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0032266

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0023423

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0027493

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0019105

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0023236

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0117360

chr2:
128335752-128335752

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0017692

C

T

exonic

De novo

synonymous SNV

NM_001080527

c.C894T

p.Y298Y

-

8.368E-6

Fu2022 E
Zhou2022 GE

MYO7B

SP0117913

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0111569

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0113736

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0068345

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0074154

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0041375

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0047747

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0158322

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0198465

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0061818

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0141666

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0010234

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0011006

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0134424

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0144495

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0023236

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0023423

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0245675

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0254040

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0225240

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0232017

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0207120

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0225202

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0134424

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0236102

chr2:
128393266-128393266

A

C

intronic

De novo

-

Trost2022 G

MYO7B

1-0568-003

A

ACCCAGCATG

intronic

De novo

-

0.001

Trost2022 G
Yuen2017 G

MYO7B

SP0077275

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0117913

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0027493

A

C

intronic

De novo

-

Trost2022 G

MYO7B

SP0047747

A

C

intronic

De novo

-

Trost2022 G

MYO7B

mAGRE5104

GC

G

exonic

Maternal

frameshift deletion

NM_001080527

c.5291delC

p.A1764fs

-

chr2:
128384714-128384714

Cirnigliaro2023 G

MYO7B

2H596

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

MYO7B

mAGRE2434

GC

G

exonic

Maternal

frameshift deletion

NM_001080527

c.5291delC

p.A1764fs

-

chr2:
128367476-128367476

Cirnigliaro2023 G

MYO7B

mAGRE4146

A

AG

exonic

Maternal

frameshift insertion

NM_001080527

c.3078dupG

p.E1026fs

-

Cirnigliaro2023 G

MYO7B

mAGRE2730

chr2:
128338397-128338397

G

GCT

exonic

Maternal

frameshift insertion

NM_001080527

c.1080_1081insCT

p.E360fs

-

8.281E-5

Cirnigliaro2023 G

MYO7B

mAGRE4831

G

A

splicing

Maternal

splicing

16.29

Cirnigliaro2023 G

MYO7B

mAGRE4830

G

A

splicing

Maternal

splicing

16.29

Cirnigliaro2023 G

MYO7B

mAGRE3115

G

A

splicing

Maternal

splicing

16.29

Cirnigliaro2023 G

MYO7B

mAGRE3114

G

A

splicing

Maternal

splicing

16.29

Cirnigliaro2023 G

MYO7B

AU2569303

G

A

splicing

Maternal

splicing

16.29

Cirnigliaro2023 G

MYO7B

AU2569301

G

A

splicing

Maternal

splicing

16.29

chr2:
128393392-128393394

Cirnigliaro2023 G

MYO7B

mAGRE4979

CCG

C

exonic

Maternal

frameshift deletion

NM_001080527

c.5839_5840del

p.R1947fs

-

Cirnigliaro2023 G

MYO7B

mAGRE5105

GC

G

exonic

Maternal

frameshift deletion

NM_001080527

c.5291delC

p.A1764fs

-

Cirnigliaro2023 G

MYO7B

iHART3115

G

A

splicing

Maternal

splicing

16.29

Ruzzo2019 G

MYO7B

iHART3114

G

A

splicing

Maternal

splicing

16.29

Ruzzo2019 G

MYO7B

iHART2434

GC

G

exonic

Maternal

frameshift deletion

NM_001080527

c.5291delC

p.A1764fs

-