Diseases

Report No.

cDNA Variant

cDNA Variant Types

Protein Variant Types of K6a

Domain

PC-1

1

c.487G > A

Substitution

p.Glu163Lys

Head

PC-1

2

c.491G > C

Substitution

p.Arg164Pro

1A

PC-1

1

c.497A > C

Substitution

p.Gln166Pro

1A

PC-1

1

c.500T > A

Substitution

p.Ile167Asn

1A

PC-1

1

c.500T > G

Substitution

p.Ile167Ser

1A

PC-1

1

c.508C > T

Substitution

p.Leu170Phe

1A

PC-1

2

c.511A > T

Substitution

p.Asn171Tyr

1A

PC-1

3

c.511A > G

Substitution

p.Asn171Asp

1A

PC-1

7

c.512A > G

Substitution

p.Asn171Ser

1A

PC-1

1

c.512A > C

Substitution

p.Asn171Thr

1A

PC-1

5

c.513C > A

Substitution

p.Asn171Lys

1A

PC-1

33

c.514_516del

Deletion

p.Asn172del

1A

PC-1

1

c.520T > G

Substitution

p.Phe174Val

1A

PC-1

11

c.521T > C

Substitution

p.Phe174Ser

1A

PC-1

1

c.521T > G

Substitution

p.Phe174Cys

1A

PC-1

1

c.526T > C

Substitution

p.Ser176Pro

1A

PC-1

1

c.533T > A

Substitution

p.Ile178Asn

1A

PC-1

1

c.1303C > T

Substitution

p.Gln435X

2B

PC-1

1

c.1381G > A

Substitution

p.Glu461Lys

2B

PC-1

1

c.1381G > C

Substitution

p.Glu461Gln

2B

PC-1

1

c.1385T > G

Substitution

p.Ile462Ser

2B

PC-1

1

c.1385T > A

Substitution

p.Ile462Asn

2B

PC-1

1

c.1387G > C

Substitution

p.Ala463Pro

2B

PC-1

1

c.1390A > C

Substitution

p.Thr464Pro

2B

PC-1

4

c.1393T > C

Substitution

p.Tyr465His

2B

PC-1

1

c.1394A > G

Substitution

p.Tyr465Cys

2B

PC-1

4

c.1403T > C

Substitution

p.Leu468Pro

2B

PC-1

1

c.1403T > A

Substitution

p.Leu468Gln

2B

PC-1

3

c.1406T > G

Substitution

p.Leu469Arg

2B

PC-1

3

c.1406T > C

Substitution

p.Leu469Pro

2B

PC-1

1

c.1410_1411ins^d

Insertion

p.Glu470_Gly471ins

2B

PC-1

5

c.1414G > A

Substitution

p.Glu472Lys

2B

PC-1

1

c.1416G > C

Substitution

p.Glu472Asp

2B

PC-1

1

c.1460-2A > C

Substitution

p.Ser487PhefsX72

Tail

PC-1

1

c.1511_1512insG

Insertion

p.Ser505GlnfsX59

Tail