Full data view for gene IKBKG

Information The variants shown are described using the NM_003639.3 transcript reference sequence.

1710 entries on 18 pages. Showing entries 1 - 100.
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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     
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Parent #1 - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Aradhya 2001 - - Germline - - - - - DNA Southern - - IP - PubMed: Aradhya 2001 112 families - - - - - - - - 112 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Aradhya 2001 - - De novo - - - - - DNA Southern - - IP - PubMed: Aradhya 2001 109 sporadic cases - - - - - - - - 109 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Paternal (confirmed) - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Aradhya 2001 - - Germline - - - - - DNA Southern - - IP - PubMed: Aradhya 2001 19 families - - - - - - - - 19 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Aradhya 2001 - - Germline - - - - - DNA Southern - - IP - PubMed: Aradhya 2001 8 families - - - - - - - - 8 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA Southern - - IP - PubMed: Lee 2009 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA PCR - - IP Pat7 PubMed: Zou 2007 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA PCR - - IP Pat10 PubMed: Zou 2007 family - - China - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic (dominant) g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 - PubMed: Lee 2009 - - Germline - - - - - DNA PCR - - IP Pat5 PubMed: Zou 2007 2-generation family, affected mother/daughter - - China - - - - - 2 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline - - - - XCI pattern 0.913 DNA MLPA, SEQ - - XLI Pat03f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern not informative DNA MLPA, SEQ - - XLI Pat05f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 0.990 DNA MLPA, SEQ - - XLI Pat06f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat08f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) - pathogenic g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 94 kb deletion from IKBKG to IKBKGP PubMed: Kawai 2020 - - Germline - - - - XCI pattern 0.973 DNA MLPA, SEQ - - XLI Pat10f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 mosaic deletion PubMed: Kawai 2020 - - Somatic - - - - XCI pattern 0.671 DNA MLPA, SEQ - - XLI Pat12f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat13f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat14f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat16f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern not informative DNA MLPA, SEQ - - XLI Pat18f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 mosaic deletion PubMed: Kawai 2020 - - Somatic - - - - XCI pattern 0.500 DNA MLPA, SEQ - - XLI Pat19f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 mosaic deletion PubMed: Kawai 2020 - - Somatic - - - - XCI pattern 0.584 DNA MLPA, SEQ - - XLI Pat20f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat21f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 1.00 DNA MLPA, SEQ - - XLI Pat22f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 mosaic deletion PubMed: Kawai 2020 - - Somatic - - - - (male) DNA MLPA, SEQ - - XLI Pat24m PubMed: Kawai 2020 - M - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 mosaic deletion PubMed: Kawai 2020 - - Somatic - - - - XCI pattern 0.653 DNA MLPA, SEQ - - XLI Pat25f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 0.985 DNA MLPA, SEQ - - XLI Pat28f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 0.513 DNA MLPA, SEQ - - XLI Pat29f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+/. 3i_10_ c.(399+1_400-1)_*585{0} r.? p.? Unknown - pathogenic g.(153784592_153786746)_(153793261_?)del - del ex4-10 - IKBKG_000004 - PubMed: Kawai 2020 - - Germline/De novo (untested) - - - - XCI pattern 0.983 DNA MLPA, SEQ - - XLI Pat30f PubMed: Kawai 2020 - F - Japan - - - - - 1 Johan den Dunnen
+?/. - c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) ACMG likely pathogenic g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-252-1 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 3 Johan den Dunnen
+?/. - c.(399+1_400-1)_*585{0} r.? p.? Maternal (confirmed) ACMG likely pathogenic g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-252-2 PubMed: Weisschuh 2024 relative F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.(399+1_400-1)_*585{0} r.? p.? Parent #1 ACMG likely pathogenic g.(153784592_153786746)_(153793261_?)del g.(154556377_154558531)_(154565046_?)del del ex4-10 - IKBKG_000004 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-252-3 PubMed: Weisschuh 2024 relative F - Germany - - - - - 1 Johan den Dunnen
./. - c.-210479_*929753dup - - Maternal (confirmed) - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-205912_*68432dup - - Maternal (inferred) - pathogenic g.153570408_153861108dup g.154342193_154632893dup GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamMRX75/D13 PubMed: Hu 2016 family, 1 affected, 4 unaffected heterozygous carrier females M - - - - - - - 1 Johan den Dunnen
?/. - c.-5839G>A r.(?) p.(=) Unknown - VUS g.153770481G>A - IKBKG(NM_001099856.2):c.3G>A (p.(Met1?)) - IKBKG_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5831T>C r.(?) p.(=) Unknown - VUS g.153770489T>C g.154542274T>C IKBKG(NM_001099856.4):c.11T>C (p.V4A) - IKBKG_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5823G>A r.(?) p.(=) Unknown - VUS g.153770497G>A g.154542282G>A IKBKG(NM_001099856.4):c.19G>A (p.V7M), IKBKG(NM_001099856.6):c.19G>A (p.V7M) - G6PD_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5823G>A r.(?) p.(=) Unknown - likely benign g.153770497G>A g.154542282G>A IKBKG(NM_001099856.4):c.19G>A (p.V7M), IKBKG(NM_001099856.6):c.19G>A (p.V7M) - G6PD_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5730G>A r.(?) p.(=) Unknown - VUS g.153770590G>A g.154542375G>A IKBKG(NM_001099856.4):c.112G>A (p.E38K) - IKBKG_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5694C>T r.(?) p.(=) Unknown - benign g.153770626C>T g.154542411C>T IKBKG(NM_001099856.4):c.148C>T (p.R50C) - G6PD_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5691A>G r.(?) p.(=) Unknown - likely benign g.153770629A>G g.154542414A>G IKBKG(NM_001099856.4):c.151A>G (p.T51A) - IKBKG_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5669C>T r.(?) p.(=) Unknown - VUS g.153770651C>T - IKBKG(NM_001099856.4):c.173C>T (p.A58V) - IKBKG_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5657G>C r.(?) p.(=) Unknown - likely benign g.153770663G>C g.154542448G>C IKBKG(NM_001099856.2):c.185G>C (p.(Gly62Ala)) - G6PD_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2076T>G r.(?) p.(=) Unknown - benign g.153774244T>G g.154546029T>G G6PD(NM_000402.4):c.210+7A>C (p.(=)) - IKBKG_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2076T>G r.(?) p.(=) Unknown - VUS g.153774244T>G g.154546029T>G G6PD(NM_000402.4):c.210+7A>C (p.(=)) - IKBKG_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2048T>C - - Parent #1 - pathogenic g.153774272T>C g.154546057T>C - - G6PD_000060 WHO classification-Class I PubMed: Hirono 1995 - - Germline - - - - - DNA SEQ - - HAG - PubMed: Hirono 1995 - - - Solomon Islands - - - - - 1 Johan den Dunnen
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Both (homozygous) - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - F - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - F - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - F - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - F - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - F - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - F - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian)/She (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Fujian)/Han (Guangdong) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Guangdong) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Guangdong) - - - - 1 Lin Zou
+/. - c.-2044T>C r.? p.? Parent #1 - pathogenic g.153774276T>C g.154546061T>C - - G6PD_000037 - Zou 2019, submitted - - Germline - - - - - DNA MCA - - HAG - Zou 2019, submitted - M - China Han (Guangdong) - - - - 1 Lin Zou
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