Table 2 Sodium channel mutations

ATP12A

NM_001676

Br13X

g.chr13:24178566C>G

c.2134C>G

p.Q712E

Missense

SCN1B

CCDS12441.1

BR02X

g.chr19:40213563C>T

UTR-2C>T

5'UTR

5'UTR

SCN3A

NM_006922

Br03x

g.chr2:165772558G>A

c.5612G>A

p.R1871 Q

Missense

SCN3B

CCDS8442. 1

Br16X

g.chr11:123018465_12301 8464delCT

c.344_345del CT

fs

INDEL

SCN5A

NM_000335

Br20P

g.chr3:38579032G>T

c.3838G>T

p.V1280 F

Missense

SCN9A

NM_002977

Br9PT

g.chr2:166987822G>A

c.583G>A

p.V195I

Missense

SCN9A

NM_002977

Br07X

g.chr2:166881761C>T

c.4862C>T

p.T1621 M

Missense

SLC11A1

CCDS2415. 1

Br25X

g.chr2:219077407G>A

c.520G>A

p.V174I

Missense

SLC1A2

NM_004171

Br03X

g.chr11:35239082_352390 81delCT

c.1660_1661 delCT

fs

INDEL

SLC5A7

CCDS2074. 1

Br15X

g.chr2:108067164C>A

c.263C>A

p.P88Q

Missense

SLC8A1

CCDS1806. 1

Br07X

g.chr2:40568624C>G

c.448C>G

p.L150V

Missense

SLC9A1

CCDS295.1

Br07X

g.chr1:27120218C>T

c.1006C>T

p.L336F

Missense

SLC9A2

CCDS2062. 1

Br23X

g.chr2:102732730G>A

c.479G>A

p.R160H

Missense

SLC9A4

NM_001011 552

Br9PT

g.chr2:102583058G>A

c.1201G>A

p.V401I

Missense

TRPM5

NM_014555

Br29P

g.chr11:2382782G>A

c.3459G>A

p.W1153 X

Missense