Full data view for gene PRPH2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000322.4 transcript reference sequence.

161 entries on 2 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 c.424C>T r.(?) p.(Arg142Trp) Parent #1 - pathogenic g.42689649G>A g.42721911G>A - - PRPH2_000001 variant known to affect function, not present in siblings, potentially contributing to phenotype PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+/. - c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic g.42689649G>A g.42721911G>A PRPH2(NM_000322.4):c.424C>T (p.R142W), PRPH2(NM_000322.5):c.424C>T (p.R142W) - PRPH2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic g.42689649G>A g.42721911G>A PRPH2(NM_000322.4):c.424C>T (p.R142W), PRPH2(NM_000322.5):c.424C>T (p.R142W) - PRPH2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.424C>T r.(?) p.(Arg142Trp) Unknown ACMG pathogenic g.42689649G>A - - - PRPH2_000001 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. 1 c.424C>T r.(?) p.(Arg142Trp) Parent #1 - pathogenic (dominant) g.42689649G>A g.42721911G>A - - PRPH2_000001 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat135 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. 1 c.424C>T r.(?) p.(Arg142Trp) Parent #1 - pathogenic (dominant) g.42689649G>A g.42721911G>A - - PRPH2_000001 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat139 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. - c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic g.42689649G>A - - - PRPH2_000001 - PubMed: Essilfie 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease patient PubMed: Essilfie 2018 - F - United States - - - - - 1 Johan den Dunnen
+?/. - c.424C>T r.(?) p.(Arg142Trp) Unknown - likely pathogenic g.42689649G>A g.42721911G>A - - PRPH2_000001 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 897 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. - c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic g.42689649G>A g.42721911G>A - - PRPH2_000001 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 5118 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
?/. 1 c.424C>T r.(?) p.(Arg142Trp) Parent #1 ACMG VUS g.42689649G>A g.42721911G>A - - PRPH2_000001 - PubMed: Van Cauwenbergh 2017 - - Germline - - - - - DNA SEQ - - retinal disease FAM_040 PubMed: Van Cauwenbergh 2017 - - - Belgium - - - - - 1 LOVD
+/. 1 c.424C>T r.(?) p.(Arg142Trp) Unknown ACMG pathogenic g.42689649G>A g.42721911G>A - - PRPH2_000001 ACMG PS4, PM1, PP1_strong, PP3 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A c.424C>T; p.R142W - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Unknown - 39/147 MspI- - - DNA MIPsm, SEQ blood - retinal disease Patient 20 (R963) PubMed: Peeters 2021, Journal: Peeters 2021 index case M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Both (homozygous) - pathogenic g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 21 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Both (homozygous) - pathogenic g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 22 PubMed: Peeters 2021, Journal: Peeters 2021 Mother index case 1284618 F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 22.1 PubMed: Peeters 2021, Journal: Peeters 2021 Father index case 1284618 M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 22.2 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 23 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 24 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 25 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 26 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 27 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 28 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 29 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 30 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 31 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 31.1 PubMed: Peeters 2021, Journal: Peeters 2021 Sister index case 6964979 - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 32 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 33 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 34 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 35 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 36 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 37 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 37.1 PubMed: Peeters 2021, Journal: Peeters 2021 Father index case 1162674 M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 38 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 39 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 40 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 41 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 42 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 43 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 44 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 45 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 46 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 47 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA PCR, SEQ blood - retinal disease Patient 48 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 49 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 50 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 51 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 52 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 53 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp) - PRPH2_000001 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline - 39/147 MspI- - - DNA SEQ-NG blood WES retinal disease Patient 54 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_Gu III-5 PubMed: Hoyng 1996 Brother Family_Gu III-7/III-8/III-17 M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_Gu III-7 PubMed: Hoyng 1996 index case M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_Gu III-8 PubMed: Hoyng 1996 Sister Family_Gu III-5/III-7/III-17 F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_Gu III-17 PubMed: Hoyng 1996 Sister Family_Gu III-5/III-7/III-8 F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_Ja II-1 PubMed: Hoyng 1996 index case M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_Si II-3 PubMed: Hoyng 1996 index case F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_Sta II-2 PubMed: Hoyng 1996 index case F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_Sta II-5 PubMed: Hoyng 1996 Sister index case F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_TE IV-10 PubMed: Hoyng 1996 index case F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_Ho II-2 PubMed: Hoyng 1996 index case M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_Li III:2 PubMed: Hoyng 1996 index case F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A cytosine-to-thymine change at position 664 ; p.Arg142Trp - PRPH2_000001 - PubMed: Hoyng 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 12/20 MspI- - - DNA PCR, SEQ blood - retinal disease Family_Li III:3 PubMed: Hoyng 1996 Brother index case M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A g664C>T; R142W - PRPH2_000001 - PubMed: Trujillo 2001, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 3/30 MspI- - - DNA DGGE, PCR, SEQ blood - retinal disease Family_CACD_1 PubMed: Trujillo 2001 All patients belong to same family, however no pedigree available - - Spain white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A g664C>T; R142W - PRPH2_000001 - PubMed: Trujillo 2001, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 3/30 MspI- - - DNA DGGE, PCR, SEQ blood - retinal disease Family_CACD_2 PubMed: Trujillo 2001 All patients belong to same family, however no pedigree available - - Spain white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A g664C>T; R142W - PRPH2_000001 - PubMed: Trujillo 2001, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 3/30 MspI- - - DNA DGGE, PCR, SEQ blood - retinal disease Family_CACD_3 PubMed: Trujillo 2001 All patients belong to same family, however no pedigree available - - Spain white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_III:9 PubMed: Klevering 2002 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_III:10 PubMed: Klevering 2002 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_III:13 PubMed: Klevering 2002 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_IV:1 PubMed: Klevering 2002 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_IV:2 PubMed: Klevering 2002 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_IV:3 PubMed: Klevering 2002 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_IV:4 PubMed: Klevering 2002 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_IV:5 PubMed: Klevering 2002 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_IV:6 PubMed: Klevering 2002 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_IV:8 PubMed: Klevering 2002 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_IV:10 PubMed: Klevering 2002 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_IV:11 PubMed: Klevering 2002 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_A_IV:12 PubMed: Klevering 2002 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_B_III:4 PubMed: Klevering 2002 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_B_III:6 PubMed: Klevering 2002 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_B_III:8 PubMed: Klevering 2002 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_B_III:11 PubMed: Klevering 2002 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_C_II:1 PubMed: Klevering 2002 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_C_II:2 PubMed: Klevering 2002 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (inferred) - pathogenic (dominant) g.42689649G>A g.42721911G>A Arg142Trp - PRPH2_000001 - PubMed: Klevering 2002, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes - MspI- - - DNA PCR, RFLP, SEQ blood - retinal disease Family_C_II:5 PubMed: Klevering 2002 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A 661 CGG>TGG; Arg142 Trp - PRPH2_000001 - PubMed: Gamundi 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Unknown - 2/61 cases MspI- - - DNA DGGE, PCR, SEQ blood - retinal disease DM-25 PubMed: Gamundi 2007 index case - - Spain white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A 661 CGG>TGG; Arg142 Trp - PRPH2_000001 - PubMed: Gamundi 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 2/61 cases MspI- - - DNA DGGE, PCR, SEQ blood - retinal disease DM-115_ I:2 PubMed: Gamundi 2007 index case F - Spain white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A 661 CGG>TGG; Arg142 Trp - PRPH2_000001 - PubMed: Gamundi 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 2/61 cases MspI- - - DNA DGGE, PCR, SEQ blood - retinal disease DM-115_ II:1 PubMed: Gamundi 2007 Daughter index case DM-115_I:2 F - Spain white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A c.424C>T; p.Arg142Trp - PRPH2_000001 - PubMed: Renner 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Unknown - 1/22 MspI- - - DNA PCR, SEQ blood - retinal disease 954 PubMed: Renner 2009 index case F - Germany white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A p.Arg142Trp - PRPH2_000001 - PubMed: Boon 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 21/103 MspI- - - DNA PCR, SEQ blood - retinal disease Family_A_I:1 PubMed: Boon 2009 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A p.Arg142Trp - PRPH2_000001 - PubMed: Boon 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 21/103 MspI- - - DNA PCR, SEQ blood - retinal disease Family_A_II:1 PubMed: Boon 2009 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A p.Arg142Trp - PRPH2_000001 - PubMed: Boon 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 21/103 MspI- - - DNA PCR, SEQ blood - retinal disease Family_A_II:3 PubMed: Boon 2009 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A p.Arg142Trp - PRPH2_000001 - PubMed: Boon 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 21/103 MspI- - - DNA PCR, SEQ blood - retinal disease Family_A_II:4 PubMed: Boon 2009 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A p.Arg142Trp - PRPH2_000001 - PubMed: Boon 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 21/103 MspI- - - DNA PCR, SEQ blood - retinal disease Family_A_II:5 PubMed: Boon 2009 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A p.Arg142Trp - PRPH2_000001 - PubMed: Boon 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 21/103 MspI- - - DNA PCR, SEQ blood - retinal disease Family_A_II:8 PubMed: Boon 2009 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Paternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A p.Arg142Trp - PRPH2_000001 - PubMed: Boon 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 21/103 MspI- - - DNA PCR, SEQ blood - retinal disease Family_A_II:9 PubMed: Boon 2009 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Unknown - pathogenic (dominant) g.42689649G>A g.42721911G>A p.Arg142Trp - PRPH2_000001 - PubMed: Boon 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 21/103 MspI- - - DNA PCR, SEQ blood - retinal disease Family_B_I:2 PubMed: Boon 2009 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A p.Arg142Trp - PRPH2_000001 - PubMed: Boon 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 21/103 MspI- - - DNA PCR, SEQ blood - retinal disease Family_B_II:1 PubMed: Boon 2009 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A p.Arg142Trp - PRPH2_000001 - PubMed: Boon 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 21/103 MspI- - - DNA PCR, SEQ blood - retinal disease Family_B_II:3 PubMed: Boon 2009 index case not indicated M no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.424C>T r.(?) p.(Arg142Trp) Maternal (confirmed) - pathogenic (dominant) g.42689649G>A g.42721911G>A p.Arg142Trp - PRPH2_000001 - PubMed: Boon 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755783 Germline yes 21/103 MspI- - - DNA PCR, SEQ blood - retinal disease Family_B_II:5 PubMed: Boon 2009 index case not indicated F no Netherlands white - - - - 1 Manon Peeters
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