Supplementary Table 1 Article: 127-10

| Post date: 2025/12/29 |

Supplementary Table 1. Bioinformatic filters applied on G6PD variants. Initially, 215 missense variants were identified. Based on the first filter (ACMG), 115 variants were classified as pathogenic. Among these, 108 variants had a CADD score greater than 20 and were chosen for further investigations. In the next step, PANTHER, SIFT, FATHMM, and PolyOhen-2 were used, according to which 82 variants were retained as harmful or probably harmful. Finally, based on predictions from I-Mutant and MUpro, 69 variants were predicted to decrease protein stability.

Variant	Protein	ACMG	Panther	CADD	FATHM	SIFT	I-Mutant 2.0	Mupro	Poly Phen 2
c.130G>A	p.Ala44Thr	Pathogenic	Probably damaging 0.95	26.7	Damaging (-5.07)	Damaging	Decrease (DDG=-0.55)	Decrease (DDG=-1.07)	Probably damaging (0.999)
c.148C>T	p.Pro50Ser	Pathogenic	Probably damaging 0.95	26.7	Damaging (-5.97)	Damaging	Decrease (DDG=-0.85)	Decrease (DDG=-0.84)	Probably damaging (1.000)
c.152C>T	p.Thr51Ile	Pathogenic	Probably damaging 0.85	26.1	Damaging (-4.86)	Damaging	Decrease (DDG=-1.52)	Decrease (DDG=-0.25)	Probably damaging (0.998)
c179T>C	p.Leu60Pro	Pathogenic	Probably damaging 0.85	26.5	Damaging (-6.06)	Damaging	Decrease (DDG=-2.25)	Decrease (DDG=-2.33)	Probably damaging (1.000)
c.185C>A	p.Pro62His	Pathogenic	Probably damaging 0.95	24.7	Damaging (-6.30)	Damaging	Decrease (DDG=-1.90)	Decrease (DDG=-0.69)	Probably damaging (1.000)
C.224T>C	p.Leu75Pro	Pathogenic	Probably damaging 0.74	27	Damaging (-4.98)	Damaging	Decrease (DDG=-1.66)	Decrease (DDG=-2.31)	Probably damaging (1.000)
c.404A>C	p.Asn135Thr	Pathogenic	Probably damaging 0.95	23.7	Damaging (-6.76)	Damaging	Decrease (DDG=-2.18)	Decrease (DDG=-1.43)	Probably damaging (0.987)
c.409C>T	p.Leu137Phe	Pathogenic	Probably damaging 0.85	25.7	Damaging (-6.32)	Damaging	Decrease (DDG=-1.22)	Decrease (DDG=-1.56)	Probably damaging (0.981)
c.473G>A	p.Cys158Tyr	Pathogenic	Probably damaging 0.95	25.1	Damaging (-6.17)	Damaging	Decrease (DDG=-0.55)	Decrease (DDG=-0.87)	Probably damaging(1.000)
c.488G>A	p.Gly163Asp	Pathogenic	Probably damaging 0.95	28.5	Damaging (-6.62)	Damaging	Decrease (DDG=-0.46)	Decrease (DDG=-0.68)	Probably damaging (0.993)
c.497G>A	p.Arg166His	Pathogenic	Probably damaging 0.95	26.3	Damaging (-6.73)	Damaging	Decrease (DDG=-1.25)	Decrease (DDG=-0.89)	Probably damaging (1.000)
c.514C>T	p.Pro172Ser	Pathogenic	Probably damaging 0.95	27.2	Damaging (-7.09)	Damaging	Decrease (DDG=-1.36)	Decrease (DDG=-0.65)	Probably damaging (1.000)
c.517T>C	p.Phe173Leu	Pathogenic	Probably damaging 0.95	25.7	Damaging (-6.67)	Damaging	Decrease (DDG=-2.26)	Decrease (DDG=-0.59)	Probably damaging (1.000)
c.527A>G	p.Asp176Gly	Pathogenic	Probably damaging 0.95	27.3	Damaging (-5.31)	Damaging	Decrease (DDG=-2.55)	Decrease (DDG=-1.76)	Probably damaging (0.999)
c.536G>A	p.Ser179Asn	Pathogenic	Probably damaging 0.95	24.9	Damaging (-5.46)	Damaging	Decrease (DDG=-1.32)	Decrease (DDG=-0.3)	Probably damaging (0.838)
c.592C>T	p.Arg198Cys	Pathogenic	Probably damaging 0.95	31	Damaging (-5.84)	Damaging	Decrease (DDG=-1.15)	Decrease (DDG=-0.82)	Probably damaging (1.000)
c.592C>A	p.Arg198Ser	Pathogenic	Probably damaging 0.95	28.6	Damaging (-5.81)	Damaging	Decrease (DDG=-2.44)	Decrease (DDG=-1.19)	Probably damaging (1.000)
c.593G>C	p.Arg198Pro	Pathogenic	Probably damaging 0.95	26.9	Damaging (-5.83)	Damaging	Decrease (DDG=-1.77)	Decrease (DDG=-1.44)	Probably damaging (1.000)
c.593G>A	p.Arg198His	Pathogenic	Probably damaging 0.95	25.8	Damaging (-5.81)	Damaging	Decrease (DDG=-1.97)	Decrease (DDG=-1.3)	Probably damaging (1.000)
c.679C>T	p.Arg227Trp	Pathogenic	Probably damaging 0.86	29.6	Damaging (-7.13)	Damaging	Decrease (DDG=-1.29)	Decrease (DDG=-1.39)	Probably damaging (1.000)
c.737G>T	p.Arg246Leu	Pathogenic	Probably damaging 0.95	25.9	Damaging (-5.93)	Damaging	Decrease (DDG=-0.13)	Decrease (DDG=-0.27)	Probably damaging (1.000)
c.769C>G	p.Arg257Gly	Pathogenic	Probably damaging 0.95	27.8	Damaging (-5.55)	Damaging	Decrease (DDG=-0.99)	Decrease (DDG=-1.6)	Probably damaging (0.999)
c.770G>T	p.Arg257Leu	Pathogenic	Probably damaging 0.95	35	Damaging (-5.51)	Damaging	Decrease (DDG=-1.25)	Decrease (DDG=-0.51)	Probably damaging (1.000)
c.806G>A	p.Cys269Tyr	Pathogenic	Probably damaging 0.85	26.9	Damaging (-6.94)	Damaging	Decrease (DDG=-0.24)	Decrease (DDG=-1.6)	Probably damaging (0.988)
c.820G>A	p.Glu274Lys	Pathogenic	Probably damaging 0.95	28.1	Damaging (-5.29)	Damaging	Decrease (DDG=-0.57)	Decrease (DDG=-1.28)	Probably damaging (0.992)
c.825G>C	p.Lys275Asn	Pathogenic	Probably damaging 0.85	22.3	Damaging (-7.01)	Damaging	Decrease (DDG=-0.76)	Decrease (DDG=-0.55)	Probably damaging (1.000)
c.826C>T	p.Pro276Ser	Pathogenic	Probably damaging 0.95	26.9	Damaging (-6.67)	Damaging	Decrease (DDG=-1.53)	Decrease (DDG=-0.51)	Probably Damaging (1.000)
c.844G>C	p.Asp282His	Pathogenic	Probably damaging 0.74	23.5	Damaging (-7.06)	Damaging	Decrease (DDG=-1.28)	Decrease (DDG=-1.6)	Probably damaging (0.995)
c.844G>T	p.Asp282Tyr	Pathogenic	Probably damaging 0.74	23.8	Damaging (-7.07)	Damaging	Decrease (DDG=-0.63)	Decrease (DDG=-1.24)	Probably damaging (0.999)

Supplementary Table 1 (Continued)

c.848A>G	p.Asp283Gly	Pathogenic	Probably damaging 0.89	24.4	Damaging (-7.02)	Damaging	Decrease (DDG=-1.99)	Decrease (DDG=-1.61)	Probably damaging (1.000)
c.851T>C	p.Val284Ala	Pathogenic	Probably damaging 0.57	24.9	Damaging (-5.15)	Damaging	Decrease (DDG=-2.36)	Decrease (DDG=-2.64)	Probably Damaging (0.995)
c.853C>T	p.Arg285Cys	Pathogenic	Probably damaging 0.95	27.5	Damaging (-7.88)	Damaging	Decrease (DDG=-1.17)	Decrease (DDG=-0.71)	Probably damaging(1.000)
c.910G>T	p.Val304Phe	Pathogenic	Probably damaging 0.86	23.8	Damaging (-7.44)	Damaging	Decrease (DDG=-1.86)	Decrease (DDG=-0.89)	Probably damaging (0.995)
c.920A>C	p.Gln307Pro	Pathogenic	Probably damaging 0.95	24.6	Damaging (-7.61)	Damaging	Decrease (DDG=-1.74)	Decrease (DDG=-1.26)	Probably damaging (0.995)
c.921G>C	p.Gln307His	Pathogenic	Probably damaging 0.95	22.1	Damaging (-7.61)	Damaging	Decrease (DDG=-1.28)	Decrease (DDG=-1.1)	Probably damaging (1.000)
c.962G>T	p.Gly321Val	Pathogenic	-	24.8	Damaging (-7.23)	Damaging	Decrease (DDG=-1.77)	Decrease (DDG=0.32)	Probably damaging (1.000)
c.962G>A	p.Gly321Glu	Pathogenic	Probably damaging 0.95	24.8	Damaging (-7.21)	Damaging	Decrease (DDG=-0.72)	Decrease (DDG=-0.60)	Probably damaging (1.000)
c.1006A>G	p.Thr336Ala	Pathogenic	Probably damaging 0.95	23.8	Damaging (-5.90)	Damaging	Decrease (DDG=-0.38)	Decrease (DDG=-0.69)	Probably damaging (1.000)
c.1052G>T	p.Gly351Val	Pathogenic	Probably damaging 0.95	27.7	Damaging (-8.32)	Damaging	Decrease (DDG=-1.24)	Decrease (DDG=-0.64)	Probably damaging (1.000)
c.1057C>T	p.Pro353Ser	Pathogenic	Probably damaging 0.95	23.6	Damaging (-6.47)	Damaging	Decrease (DDG=-1.48)	Decrease (DDG=-0.36)	Probably damaging (0.999)
c.1081G>A	p.Ala361Thr	Pathogenic	Probably damaging 0.95	23.9	Damaging (-7.08)	Damaging	Decrease (DDG=-0.68)	Decrease (DDG=-0.79)	Probably damaging (1.000)
c.1138A>G	p.Ile380Val	Pathogenic	Probably damaging 0.86	23.5	Damaging (-6.94)	Damaging	Decrease (DDG=-1.49)	Decrease (DDG=-0.53)	Probably damaging (0.972)
c.1139T>C	p.Ile380Thr	Pathogenic	Probably damaging 0.86	23.5	Damaging (-7.17)	Damaging	Decrease (DDG=-3.21)	Decrease (DDG=-1.33)	Probably damaging (1.000)
c.1141T>C	p.Phe381Leu	Pathogenic	Probably damaging 0.95	25.9	Damaging (-7.34)	Damaging	Decrease (DDG=-2.23)	Decrease (DDG=-0.70)	Probably damaging (1.000)
c.1159C>T	p.Arg387Cys	Pathogenic	Probably damaging 0.95	26.8	Damaging (-7.04)	Damaging	Decrease (DDG=-0.77)	Decrease (DDG=-0.53)	Probably damaging (1.000)
c.1160G>A	p.Arg387His	Pathogenic	Probably damaging 0.95	27.5	Damaging (-7.01)	Damaging	Decrease (DDG=-1.91)	Decrease (DDG=-0.95)	Probably damaging (1.000)
c.1166A>G	p.Glu389Gly	Pathogenic	Probably damaging 0.95	28.7	Damaging (-7.07)	Damaging	Decrease (DDG=-0.89)	Decrease (DDG=-2.02)	Probably damaging (1.000)
c.1175T>C	p.Ile392Thr	Pathogenic	Probably damaging 0.57	25.9	Damaging (-7.63)	Damaging	Decrease (DDG=-3.98)	Decrease (DDG=-2.09)	Probably damaging (1.000)
c.1177C>G	p.Arg393Gly	Pathogenic	Probably damaging 0.95	24.6	Damaging (-7.12)	Damaging	Decrease (DDG=-1.84)	Decrease (DDG=-1.77)	Probably damaging (1.000)
c.1178G>A	p.Arg393His	Pathogenic	Probably damaging 0.95	24.3	Damaging (-7.12)	Damaging	Decrease (DDG=-2.09)	Decrease (DDG=-1.36)	Probably damaging (1.000)
c.1186C>G	p.Pro396Ala	Pathogenic	Probably damaging 0.95	24.8	Damaging (-8.18)	Damaging	Decrease (DDG=-1.83)	Decrease (DDG=-1.14)	Probably damaging (0.998)
c.1187C>G	p.Pro396Arg	Pathogenic	Probably damaging 0.95	26.9	Damaging (-8.21)	Damaging	Decrease (DDG=-0.72)	Decrease (DDG=-0.62)	Probably damaging (0.999)
c.1192G>A	p.Glu398Lys	Pathogenic	Probably damaging 0.95	25.6	Damaging (-7.21)	Damaging	Decrease (DDG=-0.55)	Decrease (DDG=-1.45)	Probably damaging (1.000)
c.1220A>C	p.Lys407Thr	Pathogenic	Probably damaging 0.95	24.9	Damaging (-7.72)	Damaging	Decrease (DDG=-0.48)	Decrease (DDG=-1.1)	Probably damaging (0.999)
c.1225C>T	p.Pro409Ser	Pathogenic	Probably damaging 0.95	24.3	Damaging (-7.22)	Damaging	Decrease (DDG=-0.48)	Decrease (DDG=-0.83)	Probably damaging (1.000)
c.1226C>A	p.Pro409Gln	Pathogenic	Probably damaging 0.95	25.7	Damaging (-7.27)	Damaging	Decrease (DDG=-0.4)	Decrease (DDG=-0.55)	Probably damaging (1.000)
c.1229G>A	p.Gly410Asp	Pathogenic	Probably damaging 0.95	23.7	Damaging (-7.30)	Damaging	Decrease (DDG=-0.84)	Decrease (DDG=-0.38)	Probably damaging (0.997)
c.1316G>C	p.Arg439Pro	Pathogenic	Probably damaging 0.95	26.9	Damaging (-7.16)	Damaging	Decrease (DDG=-1.71)	Decrease (DDG=-1.17)	Probably damaging (1.000)
c.1318C>T	p.Leu440phe	Pathogenic	Probably damaging 0.95	27	Damaging (-5.91)	Damaging	Decrease (DDG=-0.59)	Decrease (DDG=-1.74)	Probably damaging (0.999)
c.1339G>A	p.Gly447Arg	Pathogenic	Probably damaging 0.95	27.2	Damaging (-8.32)	Damaging	Decrease (DDG=-1.00)	Decrease (DDG=-0.32)	Probably damaging (1.000)

Supplementary Table 1 (Continued)

c.1340G>T	p.Gly447Val	Pathogenic	Probably damaging 0.95	26.5	Damaging (-8.32)	Damaging	Decrease (DDG=-1.09)	Decrease (DDG=-0.07)	Probably damaging (1.000)
c.1358T>A	p.Val453Glu	Pathogenic	Probably damaging 0.95	24.6	Damaging (-7.38)	Damaging	Decrease (DDG=-1.49)	Decrease (DDG=-1.21)	Probably damaging (1.000)
c.1361G>A	p.Arg454His	Pathogenic	Probably damaging 0.95	26.5	Damaging (-7.27)	Damaging	Decrease (DDG=-1.99)	Decrease (DDG=-1.07)	Probably damaging (1.000)
c.1366G>C	p.Asp456His	Pathogenic	Probably damaging 0.95	25.2	Damaging (-7.44)	Damaging	Decrease (DDG=-1.39)	Decrease (DDG=-0.70)	Probably damaging (0.967)
c.1367A>T	p.Asp456Val	Pathogenic	Probably damaging 0.95	23.8	Damaging (-7.45)	Damaging	Decrease (DDG=-1.04)	Decrease (DDG=-0.09)	Probably damaging (0.998)
c.1381G>A	p.Ala461Thr	Pathogenic	Probably damaging 0.95	25.7	Damaging (-7.14)	Damaging	Decrease (DDG=-0.82)	Decrease (DDG=-1.52)	Probably damaging (0.986)
c.1387C>T	p.Arg463Cys	Pathogenic	Probably damaging 0.85	24.2	Damaging (-7.01)	Damaging	Decrease (DDG=-0.66)	Decrease (DDG=-0.55)	Probably damaging (1.000)
c.1463G>T	p.Gly488Val	Pathogenic	Probably damaging 0.95	24.8	Damaging (-8.32)	Damaging	Decrease (DDG=-1.08)	Decrease (DDG=-0.60)	Probably damaging (1.000)
c.1465C>T	p.Pro489Ser	Pathogenic	Probably damaging 0.95	24.4	Damaging (-6.20)	Damaging	Decrease (DDG=-1.72)	Decrease (DDG=-1.04)	Probably damaging (1.000)

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