Table 4 Calcium channel mutations

ATP2B1

CCDS9035.1

Br12P

g.chr12:88531401T>A

c.502T>A

p.L168I

Missense

CACNA1A

NM_000068

Br15X

g.chr19:13184518C>T

c.5980C>T

p.P1994S

Missense

CACNA1C

NM_000719

Br17X

g.chr12:2094747C>A

c.146C>A

p.A49D

Missense

CACNA1H

NM_021098

Br15X

g.chr16:1199144C>T

c.3475C>T

p.Q1159X

Missense

CACNA1H

NM_021098

Br05X

g.chr16:1201735G>A

c.4495G>A

p.V1499M

Missense

CACNA2D3

NM_018398

Br07X

g.chr3:54905889G>A

c.2320G>A

p.A774T

Missense

CHRNA3

CCDS10305.1

Br14X

g.chr15:76681620T>C

c.419T>C

p.L140S

Missense

CHRNA9

CCDS3459.1

Br15X

g.chr4:40197220C>T

c.1195C>T

p.R399C

Missense

GRIN2B

CCDS8662.1

Br13X

g.chr12:13608123G>A

c.3316G>A

p.E1106K

Missense

GRM1

CCDS5209.1

Br15X

g.chr6:146761918C>T

c.2050C>T

p.R684C

Missense

ITPR3

CCDS4783.1

Br16X

g.chr6:33761264G>A

c.5458G>A

p.E1820K

Missense

KIAA0703

NM_014861

Br20P

g.chr16:83006699G>A

IVS5+1G>A

Splice Site

Splice Site

NMUR1

CCDS2486.1

Br20P

g.chr2:232219206C>T

c.31C>T

p.L11F

Missense

PKD1L2

NM_182740

Br14X

g.chr16:79765857G>T

c.2747G>T

p.G916V

Missense

RYR2

NM_001035

Br10P

g.chr1:233820306G>A

c.256G>A

p.V86M

Missense

RYR2

NM_001035

Br17X

g.chr1:233858930G>A

c.365G>A

p.R122H

Missense

RYR3

NM_001036

Br9PT

g.chr15:31893017C>T

c.10447C>T

p.R3483W

Missense

SLC8A1

CCDS1806.1

Br07X

g.chr2:40568624C>G

c.448C>G

p.L150V

Missense

STIM2

CCDS3440.1

Br02X

g.chr4:26686687G>T

c.1544G>T

p.R515L

Missense

TRPV5

CCDS5875.1

Br15X

g.chr7:142139519G>A

c.1064G>A

p.R355H

Missense

TRPV5

CCDS5875.1

Br14X

g.chr7:142139507G>A

c.1076G>A

p.R359H

Missense