Full data view for gene HNF1B

Information The variants shown are described using the NM_000458.2 transcript reference sequence.

568 entries on 6 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     
+/. _1_9_ c.(?_-30)_(*220_?)del r.? p.0? Unknown - pathogenic g.(?_36047155)_(36104905_?)del g.(?_37687152)_(37744914_?)del c.(?_-30)_(*220_?)del - MYH2_000008 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K103 PubMed: Heidet 2017 affected patient and 1st degree relative - - France - - - - - 2 Johan den Dunnen
+/. _1_9_ c.(?_-30)_(*220_?)del r.? p.0? Unknown - pathogenic g.(?_36047155)_(36104905_?)del g.(?_37687152)_(37744914_?)del c.(?_-30)_(*220_?)del - MYH2_000008 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K124 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-30)_(*220_?)del r.? p.0? Unknown - pathogenic g.(?_36047155)_(36104905_?)del g.(?_37687152)_(37744914_?)del c.(?_-30)_(*220_?)del - MYH2_000008 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K143 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-30)_(*220_?)del r.? p.0? Unknown - pathogenic g.(?_36047155)_(36104905_?)del g.(?_37687152)_(37744914_?)del c.(?_-30)_(*220_?)del - MYH2_000008 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K172 PubMed: Heidet 2017 affected fetus and 1st degree relative (diabetes) - - France - - - - - 2 Johan den Dunnen
+/. _1_9_ c.(?_-30)_(*220_?)del r.? p.0? Unknown - pathogenic g.(?_36047155)_(36104905_?)del g.(?_37687152)_(37744914_?)del c.(?_-30)_(*220_?)del - MYH2_000008 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K185 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-30)_(*220_?)del r.? p.0? Unknown - pathogenic g.(?_36047155)_(36104905_?)del g.(?_37687152)_(37744914_?)del c.(?_-30)_(*220_?)del - MYH2_000008 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K203 PubMed: Heidet 2017 affected patient and 1st degree relative - - France - - - - - 2 Johan den Dunnen
+/. _1_9_ c.(?_-30)_(*220_?)del r.? p.0? Unknown - pathogenic g.(?_36047155)_(36104905_?)del g.(?_37687152)_(37744914_?)del c.(?_-30)_(*220_?)del - MYH2_000008 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K4 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-30)_(*220_?)del r.? p.0? Unknown - pathogenic g.(?_36047155)_(36104905_?)del g.(?_37687152)_(37744914_?)del c.(?_-30)_(*220_?)del - MYH2_000008 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K50 PubMed: Heidet 2017 affected patient and 1st degree relative - - France - - - - - 2 Johan den Dunnen
+/. _1_3i c.(?_-1)_(809+1_810-1)del r.spl p.0? Unknown - pathogenic g.(36091822_36093549)_(36104876_?)del - c.1-?_809+?del p.Met1_Arg270del Exon deletion 1,2,3 - HNF1B_000151 - Journal: Vasileiou 2019 - - Unknown - - - - - DNA SEQ - - RCAD;MODY5 vr093 Journal: Vasileiou 2019 - - - - - - - - - 1 Bernt Popp
+/. _1_4i c.(?_-1)_(1045+1_1046-1)del r.spl p.0? Unknown - pathogenic g.(36070672_36091585)_(36104876_?)del - Exons 1‐4 deletion; c.1-?_1045+?del Exons1-4 - HNF1B_000118 - Journal: Vasileiou 2019 - - Unknown - - - - - DNA SEQ - - RCAD;MODY5 vr050 Journal: Vasileiou 2019 - - - - - - - - - 1 Bernt Popp
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA MLPA BLOOD - CAKUT - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA MLPA BLOOD - CAKUT - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Paternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA FISH BLOOD - CAKUT - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA FISH BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Paternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Maternal (confirmed) - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Germline - - - - - DNA QMPSF BLOOD Quantitative Multiplex PCR of Short Fluorescent fragments ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - De novo - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - M - - - - - - - 1 Vincent Guigonis
+/. _1_9_ c.-417_*1346{0} r.0 p.0 Unknown - pathogenic g.(?_36046029)_(36105292_?)del g.(?_37686026)_(37745301_?)del c.0 - HNF1B_000029 - - - - Unknown - - - - - DNA MLPA BLOOD - ? - - - F - - - - - - - 1 Vincent Guigonis
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