Full data view for gene PRKG1

Information The variants shown are described using the NM_006258.3 transcript reference sequence.

126 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.-83181T>C r.(?) p.(=) Unknown - likely benign g.52751170T>C g.50991410T>C PRKG1(NM_001098512.3):c.32T>C (p.I11T) - PRKG1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-83174G>A r.(?) p.(=) Unknown - VUS g.52751177G>A g.50991417G>A PRKG1(NM_001098512.3):c.39G>A (p.M13I) - PRKG1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-83174G>A r.(?) p.(=) Unknown - likely benign g.52751177G>A g.50991417G>A PRKG1(NM_001098512.3):c.39G>A (p.M13I) - PRKG1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-83126G>A r.(?) p.(=) Unknown - likely benign g.52751225G>A - PRKG1(NM_001098512.3):c.87G>A (p.K29=) - CSTF2T_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-83079C>A r.(?) p.(=) Unknown - VUS g.52751272C>A g.50991512C>A PRKG1(NM_001098512.2):c.134C>A (p.(Ser45Ter)) - PRKG1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-82916C>G r.(?) p.(=) Unknown - likely benign g.52751435C>G - PRKG1(NM_001098512.3):c.266+31C>G - CSTF2T_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30G>A r.(?) p.(=) Unknown - likely benign g.52834380G>A - PRKG1(NM_006258.4):c.30G>A (p.A10=) - CSTF2T_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197G>T r.(?) p.(Ser66Ile) Unknown - likely benign g.52834547G>T - PRKG1(NM_006258.4):c.197G>T (p.S66I) - CSTF2T_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.322C>T r.(?) p.(Leu108Phe) Unknown - VUS g.52912934C>T - PRKG1(NM_006258.4):c.322C>T (p.L108F) - CSTF2T_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395A>G r.(?) p.(Asp132Gly) Unknown - likely benign g.52913007A>G g.51153247A>G PRKG1(NM_006258.4):c.395A>G (p.D132G) - PRKG1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.401T>C r.(?) p.(Met134Thr) Unknown - VUS g.52913013T>C g.51153253T>C PRKG1(NM_001098512.3):c.356T>C (p.M119T) - PRKG1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.404A>C r.(?) p.(Asp135Ala) Parent #1 - VUS g.52913061A>C g.51153301A>C - - PRKG1_000034 - PubMed: Overwater 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat133 PubMed: Overwater 2018 - - - Netherlands - - - - - 1 Johan den Dunnen
-/. - c.408G>A r.(?) p.(Pro136=) Unknown - benign g.52913020G>A g.51153260G>A PRKG1(NM_001098512.3):c.363G>A (p.P121=) - PRKG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421A>G r.(?) p.(Lys141Glu) Unknown - VUS g.52913033A>G g.51153273A>G PRKG1(NM_001098512.3):c.376A>G (p.K126E) - PRKG1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421A>G r.(?) p.(Lys141Glu) Unknown - VUS g.52913033A>G g.51153273A>G PRKG1(NM_001098512.3):c.376A>G (p.K126E) - PRKG1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.426C>T r.(?) p.(Asp142=) Unknown - benign g.52913038C>T g.51153278C>T PRKG1(NM_001098512.3):c.381C>T (p.D127=), PRKG1(NM_006258.4):c.426C>T (p.D142=) - PRKG1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426C>T r.(?) p.(Asp142=) Unknown - likely benign g.52913038C>T g.51153278C>T PRKG1(NM_001098512.3):c.381C>T (p.D127=), PRKG1(NM_006258.4):c.426C>T (p.D142=) - PRKG1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.426C>T r.(?) p.(Asp142=) Unknown - benign g.52913038C>T - PRKG1(NM_001098512.3):c.381C>T (p.D127=), PRKG1(NM_006258.4):c.426C>T (p.D142=) - PRKG1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(433+1_434-1)_(547+1_548-1)del r.(434_547del) p.(Asp145_Thr183delinsAla) Unknown - likely pathogenic g.? - del ex3 - CYP2C9_001038 - PubMed: Overwater 2018 - - Germline - 2/128 cases FA - - - DNA MLPA - - ? Pat62 PubMed: Overwater 2018 - M - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.449A>C r.(?) p.(Asp150Ala) Unknown - VUS g.52913061A>C g.51153301A>C - - PRKG1_000034 - - - - Unknown - - - - - DNA SEQ-NG - - TAAD - - - M - - - - - - - 1 Alessandra Maugeri
?/. - c.449A>C r.(?) p.(Asp150Ala) Unknown - VUS g.52913061A>C g.51153301A>C PRKG1(NM_001098512.3):c.404A>C (p.D135A) - PRKG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454G>C r.(?) p.(Gly152Arg) Unknown - VUS g.52913066G>C g.51153306G>C PRKG1(NM_001098512.3):c.409G>C (p.G137R) - PRKG1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.479-9C>T r.(=) p.(=) Unknown - benign g.53227474C>T g.51467714C>T PRKG1(NM_001098512.3):c.434-9C>T - PRKG1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(478+1_479-1)_(592+1_593-1)del r.? p.(Asp160_Thr198delinsAla) Unknown - likely pathogenic g.(52913091_53227482)_(53227597_53564344)del - - - PRKG1_000036 - - - - Unknown - - - - - DNA SEQ-NG - CNV detection on NGS data, using XHMM bioinformatic tool AAT8 - - - M - - - - - - - 1 Alessandra Maugeri
?/. - c.520A>T r.(?) p.(Thr174Ser) Unknown - VUS g.53227524A>T g.51467764A>T PRKG1(NM_001098512.3):c.475A>T (p.T159S) - PRKG1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522C>T r.(?) p.(Thr174=) Unknown - likely benign g.53227526C>T - PRKG1(NM_006258.4):c.522C>T (p.T174=) - CSTF2T_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.530G>A r.(?) p.(Arg177Gln) Parent #1 - pathogenic g.53227579G>A g.51467819G>A - - PRKG1_000033 - PubMed: Overwater 2018 - - Germline - 3/128 cases FA - - - DNA SEQ, SEQ-NG - gene panel ? Pat39 PubMed: Overwater 2018 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.575G>A r.(?) p.(Arg192Gln) Unknown - pathogenic g.53227579G>A g.51467819G>A - - PRKG1_000033 - - - - Unknown - - - - - DNA SEQ-NG - - AAT8 - - - M - - - - - - - 1 Alessandra Maugeri
+/. - c.575G>A r.(?) p.(Arg192Gln) Unknown - pathogenic g.53227579G>A g.51467819G>A PRKG1(NM_001098512.3):c.530G>A (p.R177Q) - PRKG1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.575G>A r.(?) p.(Arg192Gln) Parent #1 - pathogenic g.53227579G>A g.51467819G>A - - PRKG1_000033 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397515330 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.578C>T r.(?) p.(Thr193Ile) Unknown - VUS g.53227582C>T - PRKG1(NM_006258.4):c.578C>T (p.(Thr193Ile)) - CSTF2T_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.593-106153C>T r.(=) p.(=) Unknown - VUS g.53458192C>T g.51698432C>T - - PRKG1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.593-105748_593-105743del r.(=) p.(=) Unknown - likely benign g.53458597_53458602del g.51698837_51698842del - - PRKG1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.593-105717G>T r.(=) p.(=) Unknown - likely benign g.53458628G>T g.51698868G>T - - PRKG1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.593-105347A>G r.(=) p.(=) Unknown - VUS g.53458998A>G g.51699238A>G - - PRKG1_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.593-105347A>G r.(=) p.(=) Unknown - VUS g.53458998A>G g.51699238A>G - - PRKG1_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.626G>A r.(?) p.(Arg209Gln) Unknown - VUS g.53564378G>A g.51804618G>A PRKG1(NM_001098512.3):c.581G>A (p.R194Q) - PRKG1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.675C>T r.(?) p.(Thr225=) Unknown - benign g.53564427C>T g.51804667C>T PRKG1(NM_001098512.3):c.630C>T (p.T210=), PRKG1(NM_006258.4):c.675C>T (p.T225=) - PRKG1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675C>T r.(?) p.(Thr225=) Unknown - likely benign g.53564427C>T g.51804667C>T PRKG1(NM_001098512.3):c.630C>T (p.T210=), PRKG1(NM_006258.4):c.675C>T (p.T225=) - PRKG1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.717C>A r.(?) p.(Ser239Arg) Unknown - likely benign g.53667285C>A g.51907525C>A PRKG1(NM_001098512.3):c.672C>A (p.S224R) - PRKG1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.762+25494A>G r.(=) p.(=) Unknown - VUS g.53692824A>G g.51933064A>G - - PRKG1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.762+25494A>G r.(=) p.(=) Both (homozygous) - VUS g.53692824A>G g.51933064A>G - - PRKG1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.762+25580A>G r.(=) p.(=) Unknown - VUS g.53692910A>G g.51933150A>G - - PRKG1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.762+25580A>G r.(=) p.(=) Both (homozygous) - VUS g.53692910A>G g.51933150A>G - - PRKG1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.762+25639C>T r.(=) p.(=) Unknown - VUS g.53692969C>T g.51933209C>T - - PRKG1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.762+25639C>T r.(=) p.(=) Both (homozygous) - VUS g.53692969C>T g.51933209C>T - - PRKG1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.762+25745A>G r.(=) p.(=) Unknown - VUS g.53693075A>G g.51933315A>G - - PRKG1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.762+25745A>G r.(=) p.(=) Both (homozygous) - VUS g.53693075A>G g.51933315A>G - - PRKG1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.763-71T>C r.(=) p.(=) Unknown - likely benign g.53814173T>C - PRKG1(NM_001098512.3):c.718-71T>C - CSTF2T_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.763-15G>T r.(=) p.(=) Unknown - benign g.53814229G>T g.52054469G>T PRKG1(NM_001098512.3):c.718-15G>T - PRKG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792C>T r.(?) p.(Ile264=) Unknown - likely benign g.53814273C>T g.52054513C>T PRKG1(NM_006258.4):c.792C>T (p.I264=) - PRKG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.840+14G>T r.(=) p.(=) Unknown - likely benign g.53814335G>T - PRKG1(NM_001098512.3):c.795+14G>T - PRKG1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.841-29A>T r.(=) p.(=) Unknown - likely benign g.53822268A>T - PRKG1(NM_001098512.3):c.796-29A>T - CSTF2T_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.841-9T>C r.(=) p.(=) Unknown - likely benign g.53822288T>C g.52062528T>C PRKG1(NM_001098512.3):c.796-9T>C - PRKG1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.845A>G r.(?) p.(Asn282Ser) Unknown - benign g.53822301A>G g.52062541A>G PRKG1(NM_001098512.3):c.800A>G (p.N267S) - PRKG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.845A>G r.(?) p.(Asn282Ser) Parent #1 - benign g.53822301A>G g.52062541A>G - - PRKG1_000017 205 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34997494 Germline - 205/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 205 Mohammed Faruq
-/. - c.845A>G r.(?) p.(Asn282Ser) Both (homozygous) - benign g.53822301A>G g.52062541A>G - - PRKG1_000017 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34997494 Germline - 7/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-/. - c.888T>C r.(?) p.(Leu296=) Unknown - benign g.53822344T>C g.52062584T>C PRKG1(NM_001098512.3):c.843T>C (p.L281=) - PRKG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.888T>C r.(?) p.(Leu296=) Unknown - benign g.53822344T>C g.52062584T>C PRKG1(NM_001098512.3):c.843T>C (p.L281=) - PRKG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.906A>C r.(?) p.(Gly302=) Unknown - likely benign g.53822362A>C g.52062602A>C PRKG1(NM_001098512.3):c.861A>C (p.G287=) - PRKG1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971T>C r.(?) p.(Leu324Ser) Parent #1 - VUS g.53921663T>C g.52161903T>C - - PRKG1_000035 - PubMed: Overwater 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat134 PubMed: Overwater 2018 - - - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.1002-70T>C r.(=) p.(=) Unknown - likely benign g.53921579T>C - PRKG1(NM_001098512.3):c.957-70T>C - CSTF2T_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002-12T>C r.(=) p.(=) Unknown - likely benign g.53921637T>C g.52161877T>C PRKG1(NM_001098512.3):c.957-12T>C - PRKG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002-9G>A r.(=) p.(=) Unknown - likely benign g.53921640G>A g.52161880G>A PRKG1(NM_001098512.3):c.957-9G>A, PRKG1(NM_006258.4):c.1002-9G>A - PRKG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002-9G>A r.(=) p.(=) Unknown - likely benign g.53921640G>A - PRKG1(NM_001098512.3):c.957-9G>A, PRKG1(NM_006258.4):c.1002-9G>A - PRKG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002-9G>A r.(=) p.(=) Unknown - likely benign g.53921640G>A - PRKG1(NM_001098512.3):c.957-9G>A, PRKG1(NM_006258.4):c.1002-9G>A - PRKG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1008T>C r.(?) p.(Phe336=) Unknown - benign g.53921655T>C g.52161895T>C PRKG1(NM_001098512.3):c.963T>C (p.F321=) - PRKG1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1016T>C r.(?) p.(Leu339Ser) Unknown - VUS g.53921663T>C g.52161903T>C - - PRKG1_000035 - - - - Unknown - - - - - DNA SEQ-NG - - TAAD - - - M - - - - - - - 1 Alessandra Maugeri
?/. - c.1016T>C r.(?) p.(Leu339Ser) Unknown - VUS g.53921663T>C g.52161903T>C PRKG1(NM_001098512.3):c.971T>C (p.L324S), PRKG1(NM_006258.4):c.1016T>C (p.L339S) - PRKG1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1016T>C r.(?) p.(Leu339Ser) Unknown - VUS g.53921663T>C g.52161903T>C PRKG1(NM_001098512.3):c.971T>C (p.L324S), PRKG1(NM_006258.4):c.1016T>C (p.L339S) - PRKG1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1016T>C r.(?) p.(Leu339Ser) Unknown - VUS g.53921663T>C - PRKG1(NM_001098512.3):c.971T>C (p.L324S), PRKG1(NM_006258.4):c.1016T>C (p.L339S) - PRKG1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026G>A r.(?) p.(Gly342=) Unknown - likely benign g.53921673G>A g.52161913G>A PRKG1(NM_001098512.3):c.981G>A (p.G327=), PRKG1(NM_006258.4):c.1026G>A (p.G342=) - PRKG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026G>A r.(?) p.(Gly342=) Unknown - likely benign g.53921673G>A - PRKG1(NM_001098512.3):c.981G>A (p.G327=), PRKG1(NM_006258.4):c.1026G>A (p.G342=) - PRKG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1071A>G r.(?) p.(Lys357=) Unknown - likely benign g.53921718A>G g.52161958A>G PRKG1(NM_001098512.3):c.1026A>G (p.K342=) - PRKG1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1071A>G r.(?) p.(Lys357=) Unknown - likely benign g.53921718A>G g.52161958A>G PRKG1(NM_001098512.3):c.1026A>G (p.K342=) - PRKG1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1071A>G r.(?) p.(Lys357=) Unknown - likely benign g.53921718A>G - PRKG1(NM_001098512.3):c.1026A>G (p.K342=) - PRKG1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1076+19_1076+20insTGGCCTT r.(=) p.(=) Unknown - benign g.53921742_53921743insTGGCCTT g.52161982_52161983insTGGCCTT PRKG1(NM_001098512.3):c.1031+19_1031+20insTGGCCTT - PRKG1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1080T>C r.(?) p.(Tyr360=) Unknown - benign g.54011333T>C g.52251573T>C PRKG1(NM_001098512.3):c.1035T>C (p.Y345=), PRKG1(NM_006258.4):c.1080T>C (p.Y360=) - PRKG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1080T>C r.(?) p.(Tyr360=) Unknown - benign g.54011333T>C - PRKG1(NM_001098512.3):c.1035T>C (p.Y345=), PRKG1(NM_006258.4):c.1080T>C (p.Y360=) - PRKG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1084G>A r.(?) p.(Ala362Thr) Unknown - VUS g.54011337G>A g.52251577G>A - - PRKG1_000062 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-?/. - c.1092G>A r.(?) p.(Ala364=) Unknown - likely benign g.54011345G>A g.52251585G>A PRKG1(NM_001098512.3):c.1047G>A (p.A349=) - PRKG1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1102G>A r.(?) p.(Ala368Thr) Unknown - VUS g.54011355G>A g.52251595G>A - - PRKG1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1105A>C r.(?) p.(Asn369His) Unknown - VUS g.54011358A>C - PRKG1(NM_001098512.3):c.1060A>C (p.N354H) - CSTF2T_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1106A>G r.(?) p.(Asn369Ser) Unknown - VUS g.54011359A>G g.52251599A>G PRKG1(NM_006258.4):c.1106A>G (p.N369S) - PRKG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1166T>C r.(?) p.(Val389Ala) Unknown - VUS g.54011419T>C - PRKG1(NM_001098512.3):c.1121T>C (p.V374A), PRKG1(NM_006258.4):c.1166T>C (p.V389A) - CSTF2T_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1166T>C r.(?) p.(Val389Ala) Unknown - VUS g.54011419T>C - PRKG1(NM_001098512.3):c.1121T>C (p.V374A), PRKG1(NM_006258.4):c.1166T>C (p.V389A) - CSTF2T_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1173+4G>A r.spl? p.? Unknown - likely benign g.54011430G>A g.52251670G>A PRKG1(NM_001098512.3):c.1128+4G>A - PRKG1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1174-9T>G r.(=) p.(=) Unknown - likely benign g.54031101T>G g.52271341T>G PRKG1(NM_001098512.3):c.1129-9T>G - PRKG1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1190A>G r.(?) p.(Glu397Gly) Unknown - VUS g.54031126A>G g.52271366A>G PRKG1(NM_001098512.3):c.1145A>G (p.E382G) - PRKG1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1290G>A r.(?) p.(Gly430=) Unknown - likely benign g.54031226G>A g.52271466G>A PRKG1(NM_001098512.3):c.1245G>A (p.G415=) - PRKG1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1299C>T r.(?) p.(Ser433=) Unknown - likely benign g.54031235C>T - PRKG1(NM_001098512.3):c.1254C>T (p.S418=) - CSTF2T_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1313+5del r.spl? p.? Unknown - likely benign g.54031254del g.52271494del - - PRKG1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1313+10C>G r.(=) p.(=) Unknown - likely benign g.54031259C>G g.52271499C>G PRKG1(NM_001098512.3):c.1268+10C>G - PRKG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1313+55A>G r.(=) p.(=) Unknown - likely benign g.54031304A>G - PRKG1(NM_001098512.3):c.1268+55A>G - CSTF2T_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1314-69C>T r.(=) p.(=) Unknown - likely benign g.54032083C>T g.52272323C>T PRKG1(NM_001098512.3):c.1269-69C>T - PRKG1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1314-9A>G r.(=) p.(=) Unknown - likely benign g.54032143A>G - PRKG1(NM_001098512.3):c.1269-9A>G - PRKG1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1338C>A r.(?) p.(Ser446Arg) Unknown - likely benign g.54032176C>A g.52272416C>A PRKG1(NM_001098512.3):c.1293C>A (p.S431R) - PRKG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1338C>A r.(?) p.(Ser446Arg) Unknown - VUS g.54032176C>A - PRKG1(NM_001098512.3):c.1293C>A (p.S431R) - PRKG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1403+183C>A r.(=) p.(=) Unknown - likely benign g.54032424C>A - PRKG1(NM_001098512.3):c.1358+183C>A - CSTF2T_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1403+328A>C r.(=) p.(=) Unknown - likely benign g.54032569A>C - PRKG1(NM_001098512.3):c.1358+328A>C - PRKG1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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