Full data view for gene DHDDS

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

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Data_av     

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+/. 3 c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Sharon 2015, PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL0213 PubMed: Sharon 2015, PubMed: Kimchi 2018, PubMed: Sharon 2019 - M no Israel Jewish-Ashkenazi - - - - 4 Dror Sharon
+/. 3 c.124A>G r.(?) p.(Lys42Glu) Parent #1 - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1340 PubMed: Kimchi 2018, PubMed: Sharon 2019 - F no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease MOL1167 PubMed: Kimchi 2018 - - - Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Kimchi 2018 12 families - - Israel Jewish-Ashkenazi - - - - 12 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Venturini 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat121-544 PubMed: Venturini 2015 - - - Russia Jewish;Europe-E - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Venturini 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat121-217 PubMed: Venturini 2015 - - - Russia Jewish - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Venturini 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat121-463 PubMed: Venturini 2015 - - - Russia Jewish - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Venturini 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat003-110 PubMed: Venturini 2015 - - - Romania;Russia Jewish - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Venturini 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat003-015 PubMed: Venturini 2015 - - - Russia Jewish - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Parent #2 - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease MOL1230 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1167 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL0972 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1044 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1050 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1081 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1101 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1287 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1290 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1358 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1366 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic (recessive) g.26764719A>G - - - DHDDS_000005 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL1445 PubMed: Kimchi 2018, PubMed: Sharon 2019 - - - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 19 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 267 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Biswas 2017 - rs147394623 Germline - - - - - DNA SEQ-NG - WES retinal disease RF.TE.0512 PubMed: Biswas 2017 - - - United States Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Parent #1 - pathogenic g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Biswas 2017 - rs147394623 Germline - - - - - DNA SEQ-NG - WES retinal disease RF.AA.1104 PubMed: Biswas 2017 - - - United States Jewish - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Biswas 2017 - rs147394623 Germline - - - - - DNA SEQ-NG - WES retinal disease RF.PO.1109 PubMed: Biswas 2017 - - - United States Jewish-Ashkenazi - - - - 1 LOVD
?/. - c.124A>G r.(?) p.(Lys42Glu) Unknown - VUS g.26764719A>G g.26438228A>G - - DHDDS_000005 - PubMed: Wang 2014 - rs147394623 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 19 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
?/. - c.124A>G r.(?) p.(Lys42Glu) Unknown - VUS g.26764719A>G - DHDDS(NM_024887.3):c.124A>G (p.K42E) - DHDDS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.124A>G r.(?) p.(Lys42Glu) Unknown - likely pathogenic g.26764719A>G g.26438228A>G p.Lys42Glu:c.124A/G; intronic variant, c.441-24A/G - DHDDS_000005 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G p.Lys42Glu:c.124A/G (homozygous) - DHDDS_000005 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G p.Lys42Glu:c.124A/G (homozygous) - DHDDS_000005 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G p.Lys42Glu:c.124A/G (homozygous) - DHDDS_000005 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Unknown - pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G, p.Lys42Glu - DHDDS_000005 AJ founder mutation, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-217 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Unknown - pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G, p.Lys42Glu - DHDDS_000005 AJ founder mutation, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-544 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic g.26764719A>G g.26438228A>G c.124A>G, p.Lys42Glu - DHDDS_000005 AJ founder mutation, homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-217 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - pathogenic g.26764719A>G g.26438228A>G c.124A>G, p.Lys42Glu - DHDDS_000005 AJ founder mutation, homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 121-544 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G, p.K42E - DHDDS_000005 homozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 63 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G, p.K42E - DHDDS_000005 homozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 64 PubMed: Jauregui 2020 - F - (United States) white - - - - 1 LOVD
?/. 3 c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - VUS g.26764719A>G - p.K42E/p.K42E - DHDDS_000005 - PubMed: Matsui 2015 - - Germline - - - - - DNA PE - - retinal disease - PubMed: Matsui 2015 - F - United States - - - - - 1 LOVD
+/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) ACMG pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G, p.(Lys42Glu) - DHDDS_000005 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.001 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD0262 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD0262-1 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD0677 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD3323 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD3458 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD4047 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease CHRD5151 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0397-1 PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0400-1 PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0565-1 (II:2) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0565-2 (II:3) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0718-1 PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0735-1 (II:2) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0779-1 (II:1) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0779-2 (II:2) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0884-1 (II:1) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0884-2 (II:2) PubMed: Zelinger 2011 - F likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease MOL0884-4 (II:4) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease TB31/R54 (II:1) PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zelinger 2011 - - Germline yes - - - - DNA SEQ - - retinal disease TB61/R226 PubMed: Zelinger 2011 - M likely - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zuchner 2011 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing retinal disease II:1 PubMed: Zuchner 2011 - ? - - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zuchner 2011 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing retinal disease II:2 PubMed: Zuchner 2011 - ? - - Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.124A>G r.(?) p.(Lys42Glu) Both (homozygous) - likely pathogenic g.26764719A>G g.26438228A>G DHDDS c.124A>G (p.Lys42Glu) - DHDDS_000005 homozygous PubMed: Zuchner 2011 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole-exome sequencing retinal disease II:4 PubMed: Zuchner 2011 - ? - - Ashkenazi Jewish - - - - 1 LOVD
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