Full data view for gene PABPN1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_004643.3 transcript reference sequence.

191 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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.3GGC(13) - r.(?) p.(?) Both (homozygous) - likely pathogenic g.? g.? NRL (NM_006177.3; OMIM: 162080): c.91C>T; p.Arg31* (hom) (ESCS), PABPN1 (NM_004643; OMIM: 602279): (GCN)13 (hom) (OPMD) - SERPINA1_000009 homozygous, (GCN)13 probably is c.3GGC(13) PubMed: Ehrenberg 2019 - - Germline yes - - 0 - DNA arraySNP, SEQ blood - ? Family 14 patient 1 PubMed: Ehrenberg 2019 - ? no Israel - - 0 - - 1 LOVD
+?/. - c.3GGC(13) - r.(?) p.(?) Both (homozygous) - likely pathogenic g.? g.? NRL (NM_006177.3; OMIM: 162080): c.91C>T; p.Arg31* (hom) (ESCS), PABPN1 (NM_004643; OMIM: 602279): (GCN)13 (hom) (OPMD) - SERPINA1_000009 homozygous, (GCN)13 probably is c.3GGC(13) PubMed: Ehrenberg 2019 - - Germline yes - - 0 - DNA arraySNP, SEQ blood - ? Family 15 patient 1 PubMed: Ehrenberg 2019 - ? no Israel - - 0 - - 1 LOVD
+/. 1 c.3_23dup Ala[17] GCG[13] r.(?) p.(Ala5_Ala11dup) Parent #1 - pathogenic g.23790681_23790701dup g.23321472_23321492dup (GCG)13 (Ala[17]) - PABPN1_000007 - PubMed: Brais 1998 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 1 family / 1 countries - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.3_23dup Ala[17] GCG[13] r.(?) p.(Ala5_Ala11dup) Parent #1 - pathogenic g.23790681_23790701dup g.23321472_23321492dup (GCG)13 (Ala[17]) - PABPN1_000007 not in 400 control chromosomes PubMed: Robinson 2005 - - Germline - 4/178 - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 4 Johan den Dunnen
+/. 1 c.(23790682_33)ins(12) Ala[14] r.(?) p.(Ala2[14]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins12] - GCR[14] - PABPN1_000025 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam04Pat36 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 2 Vered Raz
+/. 1 c.(23790682_33)ins(12) Ala[14] r.(?) p.(Ala2[14]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins12] - GCR[14] - PABPN1_000025 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam04Pat38 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(12) Ala[14] r.(?) p.(Ala2[14]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins12] - GCR[14] - PABPN1_000025 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam05Pat42 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 2 Vered Raz
+/. 1 c.(23790682_33)ins(12) Ala[14] r.(?) p.(Ala2[14]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins12] - GCR[14] - PABPN1_000025 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam05Pat46 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(12) Ala[14] r.(?) p.(Ala2[14]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins12] - GCR[14] - PABPN1_000025 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat19 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(12) Ala[14] r.(?) p.(Ala2[14]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins12] - GCR[14] - PABPN1_000025 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat26 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(12) Ala[14] r.(?) p.(Ala2[14]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins12] - GCR[14] - PABPN1_000025 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat43 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(12) Ala[14] r.(?) p.(Ala2[14]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins12] - GCR[14] - PABPN1_000025 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat44 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam02Pat3 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 6 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam02Pat15 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam02Pat16 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam02Pat23 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam02Pat48 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam03Pat12 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 4 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam03Pat35 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam03Pat40 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam03Pat45 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam06Pat2 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 2 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam07Pat4 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 2 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam07Pat39 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam08Pat5 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 5 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam08Pat6 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam08Pat20 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam08Pat21 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam08Pat50 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam09Pat25 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 5 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam09Pat30 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam09Pat31 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam09Pat41 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam09Pat47 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[15] r.(?) p.(Ala2[15]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins15] - GCR[15] - PABPN1_000026 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat1 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat9 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat11 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat14 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat17 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[16] r.(?) p.(Ala2[16]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins18] - GCR[16] - PABPN1_000027 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat28 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(15) Ala[15] r.(?) p.(Ala2[15]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins15] - GCR[15] - PABPN1_000026 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat34 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(3) Ala[11] r.(?) p.(Ala2[11]) Both (homozygous) - pathogenic g.(23790682_23790711)[ins3] - GCR[11] - PABPN1_000022 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam11Pat18 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 2 Vered Raz
+/. 1 c.(23790682_33)ins(3) Ala[11] r.(?) p.(Ala2[11]) Both (homozygous) - pathogenic g.(23790682_23790711)[ins3] - GCR[11] - PABPN1_000022 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam11Pat24 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(6) Ala[12] r.(?) p.(Ala2[12]) Parent #1 - pathogenic g.(23790682_23790711)[ins6] - GCR[12] - PABPN1_000023 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam01Pat8 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 2 Vered Raz
+/. 1 c.(23790682_33)ins(6) Ala[12] r.(?) p.(Ala2[12]) Parent #1 - pathogenic g.(23790682_23790711)[ins6] - GCR[12] - PABPN1_000023 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam01Pat10 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(6) Ala[12] r.(?) p.(Ala2[12]) Parent #1 - pathogenic g.(23790682_23790711)[ins6] - GCR[12] - PABPN1_000023 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat22 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(g) Ala[13] r.(?) p.(Ala2[13]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins9] - GCR[13] - PABPN1_000024 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam10Pat32 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 3 Vered Raz
+/. 1 c.(23790682_33)ins(g) Ala[13] r.(?) p.(Ala2[13]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins9] - GCR[13] - PABPN1_000024 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam10Pat33 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(g) Ala[13] r.(?) p.(Ala2[13]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins9] - GCR[13] - PABPN1_000024 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Fam10Pat37 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(g) Ala[13] r.(?) p.(Ala2[13]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins9] - GCR[13] - PABPN1_000024 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat7 Journal: de Leeuw 2018 - F - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(g) Ala[13] r.(?) p.(Ala2[13]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins9] - GCR[13] - PABPN1_000024 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat27 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
+/. 1 c.(23790682_33)ins(g) Ala[13] r.(?) p.(Ala2[13]) Parent #1 - pathogenic (dominant) g.(23790682_23790711)[ins9] - GCR[13] - PABPN1_000024 - Journal: de Leeuw 2018 - - Germline - - - 0 - DNA PCR, SEQ-NG saliva PABPN1 PCR OPMD Pat29 Journal: de Leeuw 2018 - M - Netherlands - - 0 yes - 1 Vered Raz
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Brais 1998 father of 09462747-PatIX M - Canada French - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Brais 1998 mother of 09462747-PatIX F - Canada French - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Maternal (confirmed) - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 brother of 09462747-FamDPatV M - Canada French - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 father of 09462747-FamPatII M - Canada French - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 mother of 09462747-FamPatII F - Canada French - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 father of 09462747-FamB.II1 M - Canada French - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 mother of 09462747-FamB.II1 F - Canada French - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: Robinson 2006 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2006 3-generation family, 5 affecteds F - United Kingdom (Great Britain) Europe NW - 0 - - 5 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 4 families / 1 country - - - - - 0 - - 4 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 29 families / 5 countries - - - - - 0 - - 29 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 19 families 8 countries - - - - - 0 - - 19 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 16 families / 6 countries - - - - - 0 - - 16 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 5 families / 3 countries - - - - - 0 - - 5 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 1 family / 1 countries - - - - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 20 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 6 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 4 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - Healthy/Control - PubMed: Brais 1998 - - - Canada French-Canadian - 0 - - 2 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 18 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 6 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 7 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 5 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 4 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 4 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 family M - Canada French - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 70 families - - Canada French - 0 - - 271 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Maternal (confirmed) - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 family, brother of 09462747-FamF151s M - Canada French - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Maternal (confirmed) - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Brais 1998 family, sister of 09462747-FamF151b F - Canada French - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Scacheri 1999 4-generation family, 7 affecteds - - United States Cajun - 0 - - 7 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 family history OPMD, no surviving relatives - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Robinson 2005 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Scacheri 1999 4-generation family, 8 affecteds - - United States Cajun - 0 - - 8 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Scacheri 1999 3-generation family, 4 affecteds - - United States Cajun - 0 - - 4 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Scacheri 1999 - - - Italy - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - - - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Schober 2001 5-generation family, 7 affecteds - - Germany - - 0 - - 7 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: Nakamoto 2002 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Nakamoto 2002 - - - Japan - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: Nakamoto 2002 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: Nakamoto 2002 patient and affected sister - - Japan - - 0 - - 2 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - F - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.4_33= Ala[10] GCG[6] r.= p.= Parent #2 - benign g.23790682_23790711= g.23321473_23321502= (GCG)6 Ala[10] - PABPN1_000000 - PubMed: van der Sluijs 2003 - - Germline - - - 0 - DNA PCR, SEQ - - OPMD - PubMed: van der Sluijs 2003 - M - Netherlands - - 0 - - 1 Johan den Dunnen
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