Validation of DNA sequence variants

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Wang Daoqi

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Apr 18, 2021, 11:01:13 PM4/18/21
to muta...@googlegroups.com

Good morning,

   Could you help me to validate these DNA sequence variants, thank you.

No.

Mutant gene

RefSeqs

Nt sub

A A sub

　

　

　

　

　

1

SEMA4D

NM_001371194.2

c.1544 C>T

p. Ala515Val

Plexin B1

NM_002673.5

c.4715C>T

p. Ala1572Val

　

　

　

　

　

2

SEMA4D

NM_001371194.2

c.2363 G>C

p. Ser788Thr

EGFR

NM_005228.3

c.1888G>A

p. Gly630Arg

　

　

　

　

　

3

SEMA4D

NM_001371194.2

c.338 G>A

P. Arg113Gln

NOS1

NM_001204218.1

c.3553A>G

p. Ile1185Val

EGFR

NM_005228.3

c.1888G>A

p.Gly630Arg

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Sincerely,

 

Daoqi Wang

4/19/2021

 

 

 

Jeroen Laros

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Apr 19, 2021, 2:55:30 AM4/19/21
to Mutalyzer
Sure, just go to the website and submit the variant descriptions, e.g., like this one.
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