Table 3 Rare variants detected in ICASO patients

Chr17:78247076–78,247,076

exonic

frameshift

c.134delC

p.S45 fs

–

249/1/0

208/0/0

1007/0/0

–

–

Chr17:78298891

exonic

missense

c.3086 T > C

p.L1029S

rs753208141

249/1/0

208/0/0

1007/0/0

D

D

Chr17:78307986

exonic

missense

c.4225G > T

p.D1409Y

–

249/1/0

208/0/0

1007/0/0

D

D

Chr17:78311532

splicing

–

c.4668 + 6C > T

–

rs78795452

248/2/0

205/3/0

1007/0/0

–

–

Chr17:78311620

splicing

–

c.4669-13A > G

–

rs750893752

249/1/0

208/0/0

999/8/0

–

–

Chr17:78313764

exonic

missense

c.5597C > T

p.T1866I

rs546687179

244/6/0

207/1/0

1007/0/0

D

–

Chr17:78318465

splicing

–

c.6343-13C > G

–

rs141121193

246/4/0

206/2/0

992/15/0

–

–

Chr17:78319385

exonic

missense

c.7250 T > G

p.I2417S

rs181965032

244/6/0

201/7/0

992/15/0

D

P

Chr17:78326772

exonic

missense

c.10336C > T

p.R3446W

rs776943470

249/1/0

208/0/0

992/15/0

D

D

Chr17:78350088

splicing

–

c.13186-13 T > C

–

rs113236556

239/11/0

202/6/0

1006/1/0

–

–

Chr17:78353469

exonic

missense

c.13595 T > C

p.I4532T

rs373648166

249/1/0

208/0/0

975/32/0

D

D

Chr17:78354738

exonic

missense

c.13748G > A

p.R4583Q

rs199887580

249/1/0

208/0/0

1007/0/0

D

D

Chr17:78355494

exonic

missense

c.13945C > G

p.L4649 V

rs61745599

249/1/0

208/0/0

1007/0/0

D

D

Chr17:78356830

exonic

missense

c.14030G > T

p.W4677 L

rs61741961

249/1/0

208/0/0

1006/1/0

D

D

Chr17:78357541

exonic

missense

c.14135A > T

p.N4712I

–

249/1/0

208/0/0

1007/0/0

D

D

Chr17:78360656

exonic

missense

c.14887C > T

p.R4963C

rs772035323

249/1/0

208/0/0

1007/0/0

D

D

Chr17:78362497

splicing

–

c.15000 + 8C > T

–

–

249/1/0

208/0/0

1006/1/0

–

–

Chr17:78363181

splicing

–

c.15195 + 14C > T

–

rs373144473

249/1/0

208/0/0

1007/0/0

–

–