Table 3 Summary of variants found in the HPCX1 region from Finnish HPC families

CD40LG

c.148T > C

p.Leu50Ser

rs1126535

LDOC1

c.-62C > G

-

-

MAGEA1

c.-2924G > T

-

-

c.-264, G > A

-

-

c.813C > T

p.Leu271

rs2233045

c.*17A > G

-

-

c.*477C > T

-

-

MAGEA11

c.96+38A > G

-

-

c.193-64T > C

-

-

c.266+10C > T

-

-

c.1077 C > T

p.Leu359

-

c.*234T > C

-

-

MAGEC1

c.-2051G > A

-

-

c.-2008T > C

-

rs1003682

c.2T > C

P.Met1?

-

c.5-44T > C

-

-

c.74G > A

p.Cys25Tyr

rs176036

c.452C > T

p.Thr151Ile

rs176037

c.1327C > G

p.Leu443Val

rs62611966

c.1401C > G

p.His467Gln

rs176048

c.2125C > T

p.His709Tyr

rs56256227

c.3174G > A

p.Glu1058

rs12845617

c.*53C > T

-

rs41300301

MAGEC3

c.-189C > T

-

-

c.259-66G > A

-

-

c.259-15T > C

-

-

c.880C > G

p.Leu294Val

-

c.958C > T

p.Leu320

rs176025

MBNL3

c.923-11G > A

-

-

RBMX

c.-1C > A

-

rs2011584

SUHW3

c.1851A > C

p.Gly617

rs209238

c.2161+4C > T

-

-

c.2162-41T > C

-

-

ZNF75

c.1434 G > A

p.Thr478

rs1129093