Disease

Report No.

cDNA Variant

cDNA Variant Types

Protein Variant Types of K16

Domain

FNEPPK^a

1

c.25delA

Deletion

p.Thr9ProfsX6

Head

PC-1

1

c.43A > T

Substitution

p.Lys15X

Head

EPPK^b

1

c.309_320del

Deletion

p.Gly104_Ala107del

Head

PC-1

1

c.362T > C

Substitution

p.Met121Thr

1A

PC-1

1

c.362T > A

Substitution

p.Met121Lys

1A

PC-1

1

c.365A > C

Substitution

p.Gln122Pro

1A

PC-1

1

c.371T > G

Substitution

p.Leu124Arg

1A

PC-1

2

c.371T > C

Substitution

p.Leu124Pro

1A

PC-1

2

c.371T > A

Substitution

p.Leu124His

1A

PC-1

1

c.371_373del^c

Deletion

p.Leu124_Asn125del

1A

PC-1

1

c.373A > G

Substitution

p.Asn125Asp

1A

PC-1

1

c.373_374del

Indel

p.Asn125Gly

1A

PC-1/FNEPPK

12

c.374A > G

Substitution

p.Asn125Ser

1A

PC-1/FNEPPK

7

c.379C > T

Substitution

p.Arg127Cys

1A

PC-1

4

c.380G > C

Substitution

p.Arg127Pro

1A

PC-1

2

c.383T > A

Substitution

p.Leu128Gln

1A

PC-1

4

c.389_391del

Deletion

p.Ser130del

1A

PC-1

12

c.395T > C

Substitution

p.Leu132Pro

1A

PC-1

1

c.1062A > T

Substitution

p.Lys354Asn

2B

FNEPPK

1

c.1244-1266del

Deletion

p.Ala415_Glu422del

2B