Full data view for gene DDC

Information The variants shown are described using the NM_000790.3 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.2T>C r.(?) p.0? Parent #1 - pathogenic (recessive) g.50611782A>G g.50544084A>G - - DDC_000057 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P4 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
-?/. - c.7G>A r.(?) p.(Ala3Thr) Unknown - likely benign g.50611777C>T g.50544079C>T DDC(NM_000790.3):c.7G>A (p.(Ala3Thr)) - DDC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.49= r.(=) p.(Val17=) Unknown - benign g.50611735T>C g.50544037T>C DDC(NM_001082971.1):c.49A>G (p.M17V) - DDC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.49= r.(=) p.(Val17=) Unknown - benign g.50611735T>C g.50544037T>C DDC(NM_001082971.1):c.49A>G (p.M17V) - DDC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.73G>A r.(?) p.(Glu25Lys) Unknown - likely pathogenic g.50611711C>T g.50544013C>T - - DDC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.96C>T r.(?) p.(Asp32=) Unknown - benign g.50611688G>A g.50543990G>A DDC(NM_001082971.1):c.96C>T (p.D32=) - DDC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.96C>T r.(?) p.(Asp32=) Unknown - likely benign g.50611688G>A g.50543990G>A DDC(NM_001082971.1):c.96C>T (p.D32=) - DDC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.96C>T r.(?) p.(Asp32=) Unknown - likely benign g.50611688G>A g.50543990G>A DDC(NM_001082971.1):c.96C>T (p.D32=) - DDC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.106G>A r.(?) p.(Gly36Arg) Parent #1 - pathogenic (recessive) g.50611678C>T g.50543980C>T - - DDC_000056 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P17 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
?/. - c.121C>A r.(?) p.(Leu41Met) Unknown - VUS g.50611663G>T g.50543965G>T DDC(NM_000790.3):c.121C>A (p.(Leu41Met)), DDC(NM_001082971.1):c.121C>A (p.L41M) - DDC_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.121C>A r.(?) p.(Leu41Met) Unknown - VUS g.50611663G>T - DDC(NM_000790.3):c.121C>A (p.(Leu41Met)), DDC(NM_001082971.1):c.121C>A (p.L41M) - DDC_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129T>C r.(?) p.(Pro43=) Unknown - likely benign g.50611655A>G g.50543957A>G DDC(NM_001082971.1):c.129T>C (p.P43=) - DDC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.133G>A r.(?) p.(Ala45Thr) Unknown - likely benign g.50611651C>T g.50543953C>T DDC(NM_001082971.1):c.133G>A (p.A45T) - DDC_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.170T>C r.(?) p.(Ile57Thr) Parent #2 - pathogenic (recessive) g.50611614A>G g.50543916A>G - - DDC_000055 - PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P22 PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.175G>A r.(?) p.(Asp59Asn) Parent #1 - pathogenic (recessive) g.50611609C>T g.50543911C>T - - DDC_000054 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P18 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.175G>A r.(?) p.(Asp59Asn) Parent #1 - pathogenic (recessive) g.50611609C>T g.50543911C>T - - DDC_000054 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P21 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
-?/. - c.178G>A r.(?) p.(Val60Ile) Unknown - likely benign g.50611606C>T g.50543908C>T DDC(NM_000790.3):c.178G>A (p.(Val60Ile)) - DDC_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.179T>C r.(?) p.(Val60Ala) Parent #1 - pathogenic (recessive) g.50611605A>G g.50543907A>G - - DDC_000053 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P12 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.179T>C r.(?) p.(Val60Ala) Parent #1 - pathogenic (recessive) g.50611605A>G g.50543907A>G - - DDC_000053 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P13 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.179T>C r.(?) p.(Val60Ala) Parent #2 - pathogenic (recessive) g.50611605A>G g.50543907A>G - - DDC_000053 - PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P23 PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - F - China - - 0 - - 1 Johan den Dunnen
-?/. - c.207G>A r.(?) p.(Thr69=) Unknown - likely benign g.50607721C>T g.50540023C>T DDC(NM_001082971.1):c.207G>A (p.T69=) - DDC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.234C>T r.(?) p.(Ala78=) Unknown - benign g.50607694G>A g.50539996G>A DDC(NM_001082971.1):c.234C>T (p.A78=), DDC-AS1(NR_033845.1):n.344G>A - DDC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.261G>A r.(?) p.(Pro87=) Unknown - likely benign g.50607667C>T g.50539969C>T DDC(NM_001082971.1):c.261G>A (p.P87=) - DDC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.277A>G r.(?) p.(Met93Val) Parent #2 - pathogenic (recessive) g.50607651T>C g.50539953T>C - - DDC_000052 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P4 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.299G>C r.(?) p.(Cys100Ser) Parent #2 - pathogenic (recessive) g.50607629C>G g.50539931C>G - - DDC_000051 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P2 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.304G>A r.(?) p.(Gly102Ser) Both (homozygous) - pathogenic (recessive) g.50607624C>T g.50539926C>T - - DDC_000050 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P1 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
?/. - c.304G>T r.(?) p.(Gly102Cys) Unknown - VUS g.50607624C>A g.50539926C>A - - DDC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.361T>C r.(?) p.(Trp121Arg) Unknown - VUS g.50605632A>G g.50537934A>G DDC(NM_001082971.1):c.361T>C (p.W121R) - DDC_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.367G>A r.(?) p.(Gly123Arg) Unknown - likely pathogenic g.50605626C>T g.50537928C>T - - DDC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.435+6G>T r.(=) p.(=) Unknown - VUS g.50605552C>A g.50537854C>A DDC(NM_000790.3):c.435+6G>T (p.(=)) - DDC_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.436-16C>T r.(=) p.(=) Unknown - benign g.50597056G>A g.50529358G>A DDC(NM_001082971.1):c.436-16C>T - DDC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.436-16C>T r.(=) p.(=) Unknown - benign g.50597056G>A g.50529358G>A DDC(NM_001082971.1):c.436-16C>T - DDC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.436-16C>T r.(=) p.(=) Unknown - benign g.50597056G>A g.50529358G>A DDC(NM_001082971.1):c.436-16C>T - DDC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.436-12T>C r.(=) p.(=) Unknown - benign g.50597052A>G g.50529354A>G DDC(NM_001082971.1):c.436-12T>C - DDC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.436-12T>C r.(=) p.(=) Unknown - likely benign g.50597052A>G g.50529354A>G DDC(NM_001082971.1):c.436-12T>C - DDC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.446G>C r.(?) p.(Ser149Thr) Both (homozygous) - likely pathogenic (dominant) g.50597030C>G g.50529332C>G - - DDC_000041 - PubMed: Lee 2019 ClinVar-000926987.1 - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat6 PubMed: Lee 2019 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.478C>G r.(?) p.(Arg160Gly) Parent #1 - pathogenic (recessive) g.50596998G>C g.50529300G>C - - DDC_000049 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P3 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
?/. - c.565G>C r.(?) p.(Asp189His) Unknown - VUS g.50596911C>G g.50529213C>G DDC(NM_001082971.1):c.565G>C (p.D189H) - DDC_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.565G>T r.(?) p.(Asp189Tyr) Parent #2 - pathogenic (recessive) g.50596911C>A g.50529213C>A - - DDC_000048 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P3 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+?/. - c.571-3C>G r.spl? p.? Unknown - likely pathogenic g.50595981G>C g.50528283G>C - - DDC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.629C>T r.(?) p.(Pro210Leu) Unknown - likely benign g.50595920G>A g.50528222G>A DDC(NM_000790.3):c.629C>T (p.(Pro210Leu)), DDC(NM_001082971.1):c.629C>T (p.P210L) - DDC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.629C>T r.(?) p.(Pro210Leu) Unknown - likely benign g.50595920G>A g.50528222G>A DDC(NM_000790.3):c.629C>T (p.(Pro210Leu)), DDC(NM_001082971.1):c.629C>T (p.P210L) - DDC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.629C>T r.(?) p.(Pro210Leu) Parent #1 - likely benign g.50595920G>A g.50528222G>A - - DDC_000025 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6262 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-/. - c.649A>G r.(?) p.(Met217Val) Unknown - benign g.50595900T>C g.50528202T>C DDC(NM_000790.3):c.649A>G (p.(Met217Val)), DDC(NM_001082971.1):c.649A>G (p.M217V) - DDC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.649A>G r.(?) p.(Met217Val) Unknown - likely benign g.50595900T>C g.50528202T>C DDC(NM_000790.3):c.649A>G (p.(Met217Val)), DDC(NM_001082971.1):c.649A>G (p.M217V) - DDC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.649A>G r.(?) p.(Met217Val) Parent #1 - likely benign g.50595900T>C g.50528202T>C - - DDC_000008 81 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6263 Germline - 81/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 81 Mohammed Faruq
?/. - c.679G>C r.(?) p.(Glu227Gln) Unknown - VUS g.50595870C>G - - - DDC_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.714+4A>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P5 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P6 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P7 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P8 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #1 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P9 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P10 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P11 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P12 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P13 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P14 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P15 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P16 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P17 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P18 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P19 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P20 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.714+4A>T r.spl p.? Parent #2 - pathogenic (recessive) g.50595831T>A g.50528133T>A - - DDC_000047 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P21 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
?/. - c.715A>T r.(?) p.(Met239Leu) Unknown - VUS g.50571757T>A g.50504059T>A DDC(NM_000790.3):c.715A>T (p.(Met239Leu)), DDC(NM_001082971.1):c.715A>T (p.M239L) - DDC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.715A>T r.(?) p.(Met239Leu) Unknown - likely benign g.50571757T>A - DDC(NM_000790.3):c.715A>T (p.(Met239Leu)), DDC(NM_001082971.1):c.715A>T (p.M239L) - DDC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.717G>T r.(?) p.(Met239Ile) Unknown - likely benign g.50571755C>A g.50504057C>A DDC(NM_000790.3):c.717G>T (p.(Met239Ile)) - DDC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.876G>A r.(?) p.(Glu292=) Unknown - VUS g.50566846C>T g.50499148C>T - - DDC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.899del r.(?) p.(Asn300IlefsTer8) Unknown - pathogenic g.50563094del g.50495396del DDC(NM_001082971.1):c.899delA (p.N300Ifs*8) - DDC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.944+2399G>A r.(=) p.(=) Unknown - likely benign g.50560649C>T g.50492951C>T DDC(NM_001242890.2):c.999G>A (p.A333=) - DDC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1021+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.50547484C>T g.50479786C>T - - DDC_000046 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P2 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.1040G>A r.(?) p.(Arg347Gln) Unknown - pathogenic g.50544323C>T - - - DDC_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1041+8G>A r.(=) p.(=) Unknown - benign g.50544314C>T g.50476616C>T DDC(NM_001082971.1):c.1041+8G>A - DDC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1140+2T>C r.spl? p.? Unknown - pathogenic g.50537769A>G g.50470071A>G - - DDC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1226T>C r.(?) p.(Val409Ala) Unknown - VUS g.50534928A>G g.50467230A>G DDC(NM_000790.3):c.1226T>C (p.(Val409Ala)) - DDC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1234C>T r.(?) p.(Arg412Trp) Parent #1 - pathogenic (recessive) g.50534920G>A g.50467222G>A - - DDC_000045 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P10 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.1234C>T r.(?) p.(Arg412Trp) Parent #1 - pathogenic (recessive) g.50534920G>A g.50467222G>A - - DDC_000045 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P11 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.1234C>T r.(?) p.(Arg412Trp) Parent #1 - pathogenic (recessive) g.50534920G>A g.50467222G>A - - DDC_000045 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P20 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.1234C>T r.(?) p.(Arg412Trp) Parent #1 - pathogenic (recessive) g.50534920G>A g.50467222G>A - - DDC_000045 - PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P22 PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.1234C>T r.(?) p.(Arg412Trp) Parent #1 - pathogenic (recessive) g.50534920G>A g.50467222G>A - - DDC_000045 - PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P23 PubMed: Wen 2020, Chen 2019, Linchuang Er Ke Za Zhi 37:365 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.1234C>T r.(?) p.(Arg412Trp) Parent #2 - pathogenic (recessive) g.50534920G>A g.50467222G>A - - DDC_000045 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P9 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.1297dup r.(?) p.(Ile433Asnfs*60) Parent #1 - pathogenic (recessive) g.50531081dup g.50463383dup 1297dupA - DDC_000044 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P14 PubMed: Wen 2020 - F - China - - 0 - - 1 Johan den Dunnen
+/. - c.1297dup r.(?) p.(Ile433Asnfs*60) Parent #1 - pathogenic (recessive) g.50531081dup g.50463383dup 1297dupA - DDC_000044 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P15 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.1312T>C r.(?) p.(Cys438Arg) Parent #1 - pathogenic (recessive) g.50531060A>G g.50463362A>G - - DDC_000043 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P19 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.1339C>T r.(?) p.(Arg447Cys) Parent #1 - pathogenic (recessive) g.50531033G>A g.50463335G>A - - DDC_000042 - PubMed: Wen 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES AADCD P16 PubMed: Wen 2020 - M - China - - 0 - - 1 Johan den Dunnen
+?/. - c.1379T>G r.(?) p.(Val460Gly) Unknown - likely pathogenic g.50530993A>C g.50463295A>C - - DDC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1385G>A r.(?) p.(Arg462Gln) Unknown - benign g.50530987C>T g.50463289C>T DDC(NM_000790.3):c.1385G>A (p.(Arg462Gln)), DDC(NM_001082971.1):c.1385G>A (p.R462Q) - DDC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1385G>A r.(?) p.(Arg462Gln) Unknown - likely benign g.50530987C>T g.50463289C>T DDC(NM_000790.3):c.1385G>A (p.(Arg462Gln)), DDC(NM_001082971.1):c.1385G>A (p.R462Q) - DDC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1385G>A r.(?) p.(Arg462Gln) Parent #1 - likely benign g.50530987C>T g.50463289C>T - - DDC_000003 73 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11575542 Germline - 73/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 73 Mohammed Faruq
-?/. - c.1415C>T r.(?) p.(Ala472Val) Unknown - likely benign g.50530957G>A g.50463259G>A DDC(NM_001082971.1):c.1415C>T (p.A472V) - DDC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1426C>T r.(?) p.(Arg476Ter) Unknown - likely pathogenic g.50530946G>A g.50463248G>A DDC(NM_000790.3):c.1426C>T (p.(Arg476Ter)), DDC(NM_001082971.1):c.1426C>T (p.R476*) - DDC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1426C>T r.(?) p.(Arg476Ter) Unknown - VUS g.50530946G>A g.50463248G>A DDC(NM_000790.3):c.1426C>T (p.(Arg476Ter)), DDC(NM_001082971.1):c.1426C>T (p.R476*) - DDC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1435A>G r.(?) p.(Arg479Gly) Unknown - likely benign g.50530937T>C g.50463239T>C DDC(NM_000790.3):c.1435A>G (p.(Arg479Gly)) - DDC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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