Table 3 Likely pathogenic variants in MYH15, CSP1, and MYH3

CPS1

–

–

Chr2: 211494571

c.2706-7855G > A

–

Het/2

N/A

N/A

N/A

N/A

–

–

Chr2: 211494681

c.2706-7745C > G

–

Het/1

N/A

N/A

N/A

N/A

–

–

Chr2: 211494618

c.2706-7798delA

–

Het/1

N/A

N/A

N/A

N/A

–

NM_001122633.2

Chr2: 211539650

c.4144G > A

p.Gly1382Ser

Het/2

Tolerated

Benign

Disease-causing

Deleterious

MYH15

rs56118396

NM_014981.1

Chr3: 108112954

c.5243G > A

p.Arg1748Gln

Het/4

Tolerated

Benign

Disease-causing

N/A

–

Chr3: 108110666

c.5431G > A

p.Glu1811Lys

Het/1

Deleterious

Probably damaging

Disease-causing

N/A

MYH3

rs34088014

NM_002470.3

Chr17: 10542709

c.3008C > T

p.Ala1003Val

Het/2

Tolerated

Benign

Disease-causing

N/A

rs61735358

Chr17: 10541497

c.3592G > A

p.Ala1198Thr

Het/1

Tolerated

Possibly damaging

Disease-causing

N/A

rs201488879

Chr17: 10535939

c.4810G > A

p.Ala1604Thr

Het/1

Deleterious

Possibly damaging

Disease-causing

N/A

rs34393601

Chr17: 10534960

c.5254G > A

p.Ala1752Thr

Het/3

Deleterious

Possibly damaging

Disease-causing

N/A

rs763347751

Chr17: 10550688

c.791 T > C

p.Ile264Thr

Het/1

Deleterious

Probably damaging

Disease-causing

N/A

rs746986821

Chr17: 10543684

c.2392A > G

p.Met798Val

Het/1

Deleterious

Benign

Possibly disease-causing

N/A

rs551363957

Chr17: 10541370

c.3719C > T

p.Ser1240Leu

Het/1

Deleterious

Benign

Disease-causing

N/A

rs769788909

Chr17: 10547753

c.1325C > T

p.Thr442Ile

Het/1

Tolerated

Benign

Possibly disease-causing

N/A