Table II Open in new tab Spectrum of...

Patient ID	Mutation	Protein change	Exon/mutation site	Type of mutation	Polyphen2	SIFTMutationTaster 2/LRT	ACMG guidelines	Novel/reported	References for reported mutation	ClinVar accession numbers
AR gene mutations
P1	c.175C>T	p.Gln59Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Holterhus et al. (2005) and Zoppi et al. (1993)	SCV001960994
Non-sense
P2	c.1443C>G	p.Tyr481Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Philibert et al. (2010)	SCV001960995
Non-sense
P3	c.1567G>T	p.Glu523Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960990
Non-sense
P4	c.1742A>C	p.Lys581Thr	Exon 2/DBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel	–	SCV001960993
Missense
P5	c.1762G>C	p.Ala588Pro	Exon 2/DBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Lek et al. (2018) and Stenson et al. (2017)	SCV001960996
Missense
P6	c.2226G>A	p.Trp742Ter	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV002097635
Non-sense
P7	c.2255G>A	p.Trp752Ter	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960997
Non-sense
P8	c.2301del	p.Asp768IlefsTer21	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960998
Frameshift
P9	c.2323C>T	p.Arg775Cys	Exon 6/LBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Pathogenic by Clinvar	Reported	Audí et al. (2010), Gottlieb et al. (2012), Akcay et al. (2014), and Wang et al. (2017)	SCV001960999
Missense
SRD5A2 gene mutations
P10	c.169G>T	p.Glu57Ter	Exon 1	Homozygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Shabir et al. (2015)	SCV001960989
Non-sense
P11	c.81_94del	p.Ala28LeufsTer103	Exon 1	Homozygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960987
Frame shift
P12	c.169G>T	p.Glu57Ter	Exon 1	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Shabir et al. (2015)	SCV001960988
c.691C>T	p.His231Tyr	Exon 4	Compound	Probably damaging	Damaging by SIFT	Likely Pathogenic	Novel	–
heterozygous
Missense
P13	c.589G>A	p.Glu197Lys	Exon 4	Homozygous	Probably damaging	Damaging by SIFT	Pathogenic	Reported	Gui et al. (2019)	SCV001960991
Missense
P14	c.737G>A	p.Arg246Gln	Exon 5	Homozygous	Probably damaging	Damaging by SIFT	Likely Pathogenic	Reported	Yang et al. (2012), Shabir et al. (2015), and Cheng et al. (2015)	SCV001960992
Missense
SF1 gene mutations
P15	c.19G>T	p.Glu7Ter	Exon 2/DBD	Heterozygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV002097636
Nonsense
P16	c.97T>C	p.Cys33Arg	Exon 2/DBD	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel		SCV002097637
Missense
P17	c.250C>T	p.Arg84Cys	Exon 4/DBD	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV001961002
Missense
DHX37 gene mutation
P18	c.1877C>T	p.Ser626Leu	Exon 15	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	McElreavey et al. (2020)	SCV001961000
Missense
DMRT2 gene mutation
P19	c.71A>C	p.Glu24Ala	Exon 3	Heterozygous	–	Damaging by SIFT	Uncertain Significance	Novel	–	SCV001961001
Missense
HSDB17 gene mutation
P20	c.385 + 5G>A	Intron 4/5′Splice-site	–	Damaging by MutationTaster 2	Uncertain Significance	Novel	–	SCV002097638

Patient ID

Mutation

Protein change

Exon/mutation site

Type of mutation

Polyphen2

SIFTMutationTaster 2/LRT

ACMG guidelines

Novel/reported

References for reported mutation

ClinVar accession numbers

AR gene mutations

c.175C>T

p.Gln59Ter

Exon 1/NTD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Holterhus et al. (2005) and Zoppi et al. (1993)

SCV001960994

Non-sense

c.1443C>G

p.Tyr481Ter

Exon 1/NTD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Philibert et al. (2010)

SCV001960995

Non-sense

c.1567G>T

p.Glu523Ter

Exon 1/NTD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Novel

–

SCV001960990

Non-sense

c.1742A>C

p.Lys581Thr

Exon 2/DBD

Hemizygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Likely Pathogenic

Novel

–

SCV001960993

Missense

c.1762G>C

p.Ala588Pro

Exon 2/DBD

Hemizygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Likely Pathogenic

Reported

Lek et al. (2018) and Stenson et al. (2017)

SCV001960996

Missense

c.2226G>A

p.Trp742Ter

Exon 5/LBD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Novel

–

SCV002097635

Non-sense

c.2255G>A

p.Trp752Ter

Exon 5/LBD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Gottlieb et al. (2012)

SCV001960997

Non-sense

c.2301del

p.Asp768IlefsTer21

Exon 5/LBD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Gottlieb et al. (2012)

SCV001960998

Frameshift

c.2323C>T

p.Arg775Cys

Exon 6/LBD

Hemizygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Pathogenic by Clinvar

Reported

Audí et al. (2010), Gottlieb et al. (2012), Akcay et al. (2014), and Wang et al. (2017)

SCV001960999

Missense

SRD5A2 gene mutations

P10

c.169G>T

p.Glu57Ter

Exon 1

Homozygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Shabir et al. (2015)

SCV001960989

Non-sense

P11

c.81_94del

p.Ala28LeufsTer103

Exon 1

Homozygous

–

Damaging by MutationTaster 2

Pathogenic

Novel

–

SCV001960987

Frame shift

P12

c.169G>T

p.Glu57Ter

Exon 1

Non-sense

–

Damaging by MutationTaster 2

Pathogenic

Reported

Shabir et al. (2015)

SCV001960988

c.691C>T

p.His231Tyr

Exon 4

Compound

Probably damaging

Damaging by SIFT

Likely Pathogenic

Novel

–

heterozygous

Missense

P13

c.589G>A

p.Glu197Lys

Exon 4

Homozygous

Probably damaging

Damaging by SIFT

Pathogenic

Reported

Gui et al. (2019)

SCV001960991

Missense

P14

c.737G>A

p.Arg246Gln

Exon 5

Homozygous

Probably damaging

Damaging by SIFT

Likely Pathogenic

Reported

Yang et al. (2012), Shabir et al. (2015), and Cheng et al. (2015)

SCV001960992

Missense

SF1 gene mutations

P15

c.19G>T

p.Glu7Ter

Exon 2/DBD

Heterozygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Fabbri-Scallet et al. (2018)

SCV002097636

Nonsense

P16

c.97T>C

p.Cys33Arg

Exon 2/DBD

Heterozygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Likely Pathogenic

Novel

SCV002097637

Missense

P17

c.250C>T

p.Arg84Cys

Exon 4/DBD

Heterozygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Likely Pathogenic

Reported

Fabbri-Scallet et al. (2018)

SCV001961002

Missense

DHX37 gene mutation

P18

c.1877C>T

p.Ser626Leu

Exon 15

Heterozygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Likely Pathogenic

Reported

McElreavey et al. (2020)

SCV001961000

Missense

DMRT2 gene mutation

P19

c.71A>C

p.Glu24Ala

Exon 3

Heterozygous

–

Damaging by SIFT

Uncertain Significance

Novel

–

SCV001961001

Missense

HSDB17 gene mutation

P20

c.385 + 5G>A

Intron 4/5′Splice-site

–

Damaging by MutationTaster 2

Uncertain Significance

Novel

–

SCV002097638

Patient ID	Mutation	Protein change	Exon/mutation site	Type of mutation	Polyphen2	SIFTMutationTaster 2/LRT	ACMG guidelines	Novel/reported	References for reported mutation	ClinVar accession numbers
AR gene mutations
P1	c.175C>T	p.Gln59Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Holterhus et al. (2005) and Zoppi et al. (1993)	SCV001960994
Non-sense
P2	c.1443C>G	p.Tyr481Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Philibert et al. (2010)	SCV001960995
Non-sense
P3	c.1567G>T	p.Glu523Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960990
Non-sense
P4	c.1742A>C	p.Lys581Thr	Exon 2/DBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel	–	SCV001960993
Missense
P5	c.1762G>C	p.Ala588Pro	Exon 2/DBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Lek et al. (2018) and Stenson et al. (2017)	SCV001960996
Missense
P6	c.2226G>A	p.Trp742Ter	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV002097635
Non-sense
P7	c.2255G>A	p.Trp752Ter	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960997
Non-sense
P8	c.2301del	p.Asp768IlefsTer21	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960998
Frameshift
P9	c.2323C>T	p.Arg775Cys	Exon 6/LBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Pathogenic by Clinvar	Reported	Audí et al. (2010), Gottlieb et al. (2012), Akcay et al. (2014), and Wang et al. (2017)	SCV001960999
Missense
SRD5A2 gene mutations
P10	c.169G>T	p.Glu57Ter	Exon 1	Homozygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Shabir et al. (2015)	SCV001960989
Non-sense
P11	c.81_94del	p.Ala28LeufsTer103	Exon 1	Homozygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960987
Frame shift
P12	c.169G>T	p.Glu57Ter	Exon 1	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Shabir et al. (2015)	SCV001960988
c.691C>T	p.His231Tyr	Exon 4	Compound	Probably damaging	Damaging by SIFT	Likely Pathogenic	Novel	–
heterozygous
Missense
P13	c.589G>A	p.Glu197Lys	Exon 4	Homozygous	Probably damaging	Damaging by SIFT	Pathogenic	Reported	Gui et al. (2019)	SCV001960991
Missense
P14	c.737G>A	p.Arg246Gln	Exon 5	Homozygous	Probably damaging	Damaging by SIFT	Likely Pathogenic	Reported	Yang et al. (2012), Shabir et al. (2015), and Cheng et al. (2015)	SCV001960992
Missense
SF1 gene mutations
P15	c.19G>T	p.Glu7Ter	Exon 2/DBD	Heterozygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV002097636
Nonsense
P16	c.97T>C	p.Cys33Arg	Exon 2/DBD	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel		SCV002097637
Missense
P17	c.250C>T	p.Arg84Cys	Exon 4/DBD	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV001961002
Missense
DHX37 gene mutation
P18	c.1877C>T	p.Ser626Leu	Exon 15	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	McElreavey et al. (2020)	SCV001961000
Missense
DMRT2 gene mutation
P19	c.71A>C	p.Glu24Ala	Exon 3	Heterozygous	–	Damaging by SIFT	Uncertain Significance	Novel	–	SCV001961001
Missense
HSDB17 gene mutation
P20	c.385 + 5G>A	Intron 4/5′Splice-site	–	Damaging by MutationTaster 2	Uncertain Significance	Novel	–	SCV002097638

Patient ID

Mutation

Protein change

Exon/mutation site

Type of mutation

Polyphen2

SIFTMutationTaster 2/LRT

ACMG guidelines

Novel/reported

References for reported mutation

ClinVar accession numbers

AR gene mutations

c.175C>T

p.Gln59Ter

Exon 1/NTD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Holterhus et al. (2005) and Zoppi et al. (1993)

SCV001960994

Non-sense

c.1443C>G

p.Tyr481Ter

Exon 1/NTD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Philibert et al. (2010)

SCV001960995

Non-sense

c.1567G>T

p.Glu523Ter

Exon 1/NTD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Novel

–

SCV001960990

Non-sense

c.1742A>C

p.Lys581Thr

Exon 2/DBD

Hemizygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Likely Pathogenic

Novel

–

SCV001960993

Missense

c.1762G>C

p.Ala588Pro

Exon 2/DBD

Hemizygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Likely Pathogenic

Reported

Lek et al. (2018) and Stenson et al. (2017)

SCV001960996

Missense

c.2226G>A

p.Trp742Ter

Exon 5/LBD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Novel

–

SCV002097635

Non-sense

c.2255G>A

p.Trp752Ter

Exon 5/LBD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Gottlieb et al. (2012)

SCV001960997

Non-sense

c.2301del

p.Asp768IlefsTer21

Exon 5/LBD

Hemizygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Gottlieb et al. (2012)

SCV001960998

Frameshift

c.2323C>T

p.Arg775Cys

Exon 6/LBD

Hemizygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Pathogenic by Clinvar

Reported

Audí et al. (2010), Gottlieb et al. (2012), Akcay et al. (2014), and Wang et al. (2017)

SCV001960999

Missense

SRD5A2 gene mutations

P10

c.169G>T

p.Glu57Ter

Exon 1

Homozygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Shabir et al. (2015)

SCV001960989

Non-sense

P11

c.81_94del

p.Ala28LeufsTer103

Exon 1

Homozygous

–

Damaging by MutationTaster 2

Pathogenic

Novel

–

SCV001960987

Frame shift

P12

c.169G>T

p.Glu57Ter

Exon 1

Non-sense

–

Damaging by MutationTaster 2

Pathogenic

Reported

Shabir et al. (2015)

SCV001960988

c.691C>T

p.His231Tyr

Exon 4

Compound

Probably damaging

Damaging by SIFT

Likely Pathogenic

Novel

–

heterozygous

Missense

P13

c.589G>A

p.Glu197Lys

Exon 4

Homozygous

Probably damaging

Damaging by SIFT

Pathogenic

Reported

Gui et al. (2019)

SCV001960991

Missense

P14

c.737G>A

p.Arg246Gln

Exon 5

Homozygous

Probably damaging

Damaging by SIFT

Likely Pathogenic

Reported

Yang et al. (2012), Shabir et al. (2015), and Cheng et al. (2015)

SCV001960992

Missense

SF1 gene mutations

P15

c.19G>T

p.Glu7Ter

Exon 2/DBD

Heterozygous

–

Damaging by MutationTaster 2

Pathogenic

Reported

Fabbri-Scallet et al. (2018)

SCV002097636

Nonsense

P16

c.97T>C

p.Cys33Arg

Exon 2/DBD

Heterozygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Likely Pathogenic

Novel

SCV002097637

Missense

P17

c.250C>T

p.Arg84Cys

Exon 4/DBD

Heterozygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Likely Pathogenic

Reported

Fabbri-Scallet et al. (2018)

SCV001961002

Missense

DHX37 gene mutation

P18

c.1877C>T

p.Ser626Leu

Exon 15

Heterozygous

Probably damaging

Damaging by SIFT, MutationTaster 2, LRT

Likely Pathogenic

Reported

McElreavey et al. (2020)

SCV001961000

Missense

DMRT2 gene mutation

P19

c.71A>C

p.Glu24Ala

Exon 3

Heterozygous

–

Damaging by SIFT

Uncertain Significance

Novel

–

SCV001961001

Missense

HSDB17 gene mutation

P20

c.385 + 5G>A

Intron 4/5′Splice-site

–

Damaging by MutationTaster 2

Uncertain Significance

Novel

–

SCV002097638

Table II

Open in new tab

Spectrum of gene mutations identified in AR, SRD5A2, SF1, DHX37, DMRT2, and HSD17B3 genes in 46,XY DSD subjects.

Patient ID	Mutation	Protein change	Exon/mutation site	Type of mutation	Polyphen2	SIFTMutationTaster 2/LRT	ACMG guidelines	Novel/reported	References for reported mutation	ClinVar accession numbers
AR gene mutations
P1	c.175C>T	p.Gln59Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Holterhus et al. (2005) and Zoppi et al. (1993)	SCV001960994
P1	c.175C>T	p.Gln59Ter	Exon 1/NTD	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Holterhus et al. (2005) and Zoppi et al. (1993)	SCV001960994
P2	c.1443C>G	p.Tyr481Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Philibert et al. (2010)	SCV001960995
P2	c.1443C>G	p.Tyr481Ter	Exon 1/NTD	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Philibert et al. (2010)	SCV001960995
P3	c.1567G>T	p.Glu523Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960990
P3	c.1567G>T	p.Glu523Ter	Exon 1/NTD	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960990
P4	c.1742A>C	p.Lys581Thr	Exon 2/DBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel	–	SCV001960993
P4	c.1742A>C	p.Lys581Thr	Exon 2/DBD	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel	–	SCV001960993
P5	c.1762G>C	p.Ala588Pro	Exon 2/DBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Lek et al. (2018) and Stenson et al. (2017)	SCV001960996
P5	c.1762G>C	p.Ala588Pro	Exon 2/DBD	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Lek et al. (2018) and Stenson et al. (2017)	SCV001960996
P6	c.2226G>A	p.Trp742Ter	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV002097635
P6	c.2226G>A	p.Trp742Ter	Exon 5/LBD	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV002097635
P7	c.2255G>A	p.Trp752Ter	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960997
P7	c.2255G>A	p.Trp752Ter	Exon 5/LBD	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960997
P8	c.2301del	p.Asp768IlefsTer21	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960998
P8	c.2301del	p.Asp768IlefsTer21	Exon 5/LBD	Frameshift	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960998
P9	c.2323C>T	p.Arg775Cys	Exon 6/LBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Pathogenic by Clinvar	Reported	Audí et al. (2010), Gottlieb et al. (2012), Akcay et al. (2014), and Wang et al. (2017)	SCV001960999
P9	c.2323C>T	p.Arg775Cys	Exon 6/LBD	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Pathogenic by Clinvar	Reported		SCV001960999
SRD5A2 gene mutations
P10	c.169G>T	p.Glu57Ter	Exon 1	Homozygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Shabir et al. (2015)	SCV001960989
P10	c.169G>T	p.Glu57Ter	Exon 1	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Shabir et al. (2015)	SCV001960989
P11	c.81_94del	p.Ala28LeufsTer103	Exon 1	Homozygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960987
P11	c.81_94del	p.Ala28LeufsTer103	Exon 1	Frame shift	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960987
P12	c.169G>T	p.Glu57Ter	Exon 1	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Shabir et al. (2015)	SCV001960988
	c.691C>T	p.His231Tyr	Exon 4	Compound	Probably damaging	Damaging by SIFT	Likely Pathogenic	Novel	–
				heterozygous
				Missense
P13	c.589G>A	p.Glu197Lys	Exon 4	Homozygous	Probably damaging	Damaging by SIFT	Pathogenic	Reported	Gui et al. (2019)	SCV001960991
P13	c.589G>A	p.Glu197Lys	Exon 4	Missense	Probably damaging	Damaging by SIFT	Pathogenic	Reported	Gui et al. (2019)	SCV001960991
P14	c.737G>A	p.Arg246Gln	Exon 5	Homozygous	Probably damaging	Damaging by SIFT	Likely Pathogenic	Reported	Yang et al. (2012), Shabir et al. (2015), and Cheng et al. (2015)	SCV001960992
P14	c.737G>A	p.Arg246Gln	Exon 5	Missense	Probably damaging	Damaging by SIFT	Likely Pathogenic	Reported		SCV001960992
SF1 gene mutations
P15	c.19G>T	p.Glu7Ter	Exon 2/DBD	Heterozygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV002097636
P15	c.19G>T	p.Glu7Ter	Exon 2/DBD	Nonsense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV002097636
P16	c.97T>C	p.Cys33Arg	Exon 2/DBD	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel		SCV002097637
P16	c.97T>C	p.Cys33Arg	Exon 2/DBD	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel		SCV002097637
P17	c.250C>T	p.Arg84Cys	Exon 4/DBD	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV001961002
P17	c.250C>T	p.Arg84Cys	Exon 4/DBD	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV001961002
DHX37 gene mutation
P18	c.1877C>T	p.Ser626Leu	Exon 15	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	McElreavey et al. (2020)	SCV001961000
P18	c.1877C>T	p.Ser626Leu	Exon 15	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	McElreavey et al. (2020)	SCV001961000
DMRT2 gene mutation
P19	c.71A>C	p.Glu24Ala	Exon 3	Heterozygous	–	Damaging by SIFT	Uncertain Significance	Novel	–	SCV001961001
P19	c.71A>C	p.Glu24Ala	Exon 3	Missense	–	Damaging by SIFT	Uncertain Significance	Novel	–	SCV001961001
HSDB17 gene mutation
P20	c.385 + 5G>A		Intron 4/5′Splice-site		–	Damaging by MutationTaster 2	Uncertain Significance	Novel	–	SCV002097638

Patient ID	Mutation	Protein change	Exon/mutation site	Type of mutation	Polyphen2	SIFTMutationTaster 2/LRT	ACMG guidelines	Novel/reported	References for reported mutation	ClinVar accession numbers
AR gene mutations
P1	c.175C>T	p.Gln59Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Holterhus et al. (2005) and Zoppi et al. (1993)	SCV001960994
P1	c.175C>T	p.Gln59Ter	Exon 1/NTD	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Holterhus et al. (2005) and Zoppi et al. (1993)	SCV001960994
P2	c.1443C>G	p.Tyr481Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Philibert et al. (2010)	SCV001960995
P2	c.1443C>G	p.Tyr481Ter	Exon 1/NTD	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Philibert et al. (2010)	SCV001960995
P3	c.1567G>T	p.Glu523Ter	Exon 1/NTD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960990
P3	c.1567G>T	p.Glu523Ter	Exon 1/NTD	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960990
P4	c.1742A>C	p.Lys581Thr	Exon 2/DBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel	–	SCV001960993
P4	c.1742A>C	p.Lys581Thr	Exon 2/DBD	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel	–	SCV001960993
P5	c.1762G>C	p.Ala588Pro	Exon 2/DBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Lek et al. (2018) and Stenson et al. (2017)	SCV001960996
P5	c.1762G>C	p.Ala588Pro	Exon 2/DBD	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Lek et al. (2018) and Stenson et al. (2017)	SCV001960996
P6	c.2226G>A	p.Trp742Ter	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV002097635
P6	c.2226G>A	p.Trp742Ter	Exon 5/LBD	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV002097635
P7	c.2255G>A	p.Trp752Ter	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960997
P7	c.2255G>A	p.Trp752Ter	Exon 5/LBD	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960997
P8	c.2301del	p.Asp768IlefsTer21	Exon 5/LBD	Hemizygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960998
P8	c.2301del	p.Asp768IlefsTer21	Exon 5/LBD	Frameshift	–	Damaging by MutationTaster 2	Pathogenic	Reported	Gottlieb et al. (2012)	SCV001960998
P9	c.2323C>T	p.Arg775Cys	Exon 6/LBD	Hemizygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Pathogenic by Clinvar	Reported	Audí et al. (2010), Gottlieb et al. (2012), Akcay et al. (2014), and Wang et al. (2017)	SCV001960999
P9	c.2323C>T	p.Arg775Cys	Exon 6/LBD	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Pathogenic by Clinvar	Reported		SCV001960999
SRD5A2 gene mutations
P10	c.169G>T	p.Glu57Ter	Exon 1	Homozygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Shabir et al. (2015)	SCV001960989
P10	c.169G>T	p.Glu57Ter	Exon 1	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Shabir et al. (2015)	SCV001960989
P11	c.81_94del	p.Ala28LeufsTer103	Exon 1	Homozygous	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960987
P11	c.81_94del	p.Ala28LeufsTer103	Exon 1	Frame shift	–	Damaging by MutationTaster 2	Pathogenic	Novel	–	SCV001960987
P12	c.169G>T	p.Glu57Ter	Exon 1	Non-sense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Shabir et al. (2015)	SCV001960988
	c.691C>T	p.His231Tyr	Exon 4	Compound	Probably damaging	Damaging by SIFT	Likely Pathogenic	Novel	–
				heterozygous
				Missense
P13	c.589G>A	p.Glu197Lys	Exon 4	Homozygous	Probably damaging	Damaging by SIFT	Pathogenic	Reported	Gui et al. (2019)	SCV001960991
P13	c.589G>A	p.Glu197Lys	Exon 4	Missense	Probably damaging	Damaging by SIFT	Pathogenic	Reported	Gui et al. (2019)	SCV001960991
P14	c.737G>A	p.Arg246Gln	Exon 5	Homozygous	Probably damaging	Damaging by SIFT	Likely Pathogenic	Reported	Yang et al. (2012), Shabir et al. (2015), and Cheng et al. (2015)	SCV001960992
P14	c.737G>A	p.Arg246Gln	Exon 5	Missense	Probably damaging	Damaging by SIFT	Likely Pathogenic	Reported		SCV001960992
SF1 gene mutations
P15	c.19G>T	p.Glu7Ter	Exon 2/DBD	Heterozygous	–	Damaging by MutationTaster 2	Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV002097636
P15	c.19G>T	p.Glu7Ter	Exon 2/DBD	Nonsense	–	Damaging by MutationTaster 2	Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV002097636
P16	c.97T>C	p.Cys33Arg	Exon 2/DBD	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel		SCV002097637
P16	c.97T>C	p.Cys33Arg	Exon 2/DBD	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Novel		SCV002097637
P17	c.250C>T	p.Arg84Cys	Exon 4/DBD	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV001961002
P17	c.250C>T	p.Arg84Cys	Exon 4/DBD	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	Fabbri-Scallet et al. (2018)	SCV001961002
DHX37 gene mutation
P18	c.1877C>T	p.Ser626Leu	Exon 15	Heterozygous	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	McElreavey et al. (2020)	SCV001961000
P18	c.1877C>T	p.Ser626Leu	Exon 15	Missense	Probably damaging	Damaging by SIFT, MutationTaster 2, LRT	Likely Pathogenic	Reported	McElreavey et al. (2020)	SCV001961000
DMRT2 gene mutation
P19	c.71A>C	p.Glu24Ala	Exon 3	Heterozygous	–	Damaging by SIFT	Uncertain Significance	Novel	–	SCV001961001
P19	c.71A>C	p.Glu24Ala	Exon 3	Missense	–	Damaging by SIFT	Uncertain Significance	Novel	–	SCV001961001
HSDB17 gene mutation
P20	c.385 + 5G>A		Intron 4/5′Splice-site		–	Damaging by MutationTaster 2	Uncertain Significance	Novel	–	SCV002097638

DSD, disorders of sex development.

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