NIGMS Collection - Characterized Mutations Samples

Coriell Institute for Medical Research

Samples with Characterized Mutations

Records Return: (42)

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1

Catalog ID

Cell Type

Intron/Exon

Nucleotide
Change

Nucleotide
Number

Codon
Change

Codon
Number

Consequence

Mutation

B-Lymphocyte

delT

24771

p.Phe8257Leufs*10

c.24771delT

B-Lymphocyte

G>A

17654

p.Trp5885*

c.17654G>A

B-Lymphocyte

frameshift

c.24458_24461dupAGAT

B-Lymphocyte

80

c.12018+1G>A

B-Lymphocyte

32

DEL7

3252_3255+3

c.3252_3255+3DELTGACGTA

c.3252_3255+3DELTGACGTA

B-Lymphocyte

76,77

del

152,469,299, intron 77; 152,471,995, intron 76

del encompassing exon 77

B-Lymphocyte

C>A

24218

p.Ser8073*

c.24218 C>A

B-Lymphocyte

C>A

24218

p.Ser8073*

c.24218 C>A

B-Lymphocyte

+5G>A

13059

c.13059+5G>A

c.13059+5G>A

B-Lymphocyte

24473_24476

p.His8159GlnfsStop8

c.24473_24476dupAACA

B-Lymphocyte

66

A>G

9619-2

c.9619-2A>G

B-Lymphocyte

del

24654_24655

p.Arg8218Serfs*9

c.24654_24655delAG

B-Lymphocyte

G>A

c.3255+1

c.3255+1G>A

B-Lymphocyte

T>A

24317

LEU8106*

LEU8106*

B-Lymphocyte

C>T

8425

2809

R2809*

ARG2809*

Fibroblast

T>A

24317

LEU8106*

LEU8106*

Fibroblast

C>T

8425

2809

R2809*

ARG2809*

Fibroblast

C>T

16984

c.16984C>T

Fibroblast

T>G

19568

p.L6523X

c.19568T>G

B-Lymphocyte

frameshift

c.24500_24503dup

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