All variants in the HCN4 gene

Information The variants shown are described using the NM_005477.2 transcript reference sequence.

476 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.-10C>T r.(?) p.(=) - benign g.73660621G>A - HCN4(NM_005477.3):c.-10C>T - HCN4_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.18G>T r.(?) p.(Pro6=) - likely benign g.73660594C>A g.73368253C>A HCN4(NM_005477.2):c.18G>T (p.P6=) - HCN4_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.36C>G r.(?) p.(Leu12=) - benign g.73660576G>C g.73368235G>C HCN4(NM_005477.3):c.36C>G (p.L12=) - HCN4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.36C>G r.(?) p.(Leu12=) - benign g.73660576G>C g.73368235G>C HCN4(NM_005477.3):c.36C>G (p.L12=) - HCN4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.36C>G r.(?) p.(Leu12=) - benign g.73660576G>C g.73368235G>C HCN4(NM_005477.3):c.36C>G (p.L12=) - HCN4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.107G>A r.(?) p.(Gly36Glu) - benign g.73660505C>T g.73368164C>T HCN4(NM_005477.3):c.107G>A (p.G36E, p.(Gly36Glu)) - HCN4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.107G>A r.(?) p.(Gly36Glu) - likely benign g.73660505C>T g.73368164C>T HCN4(NM_005477.3):c.107G>A (p.G36E, p.(Gly36Glu)) - HCN4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.107G>A r.(?) p.(Gly36Glu) - benign g.73660505C>T g.73368164C>T HCN4(NM_005477.3):c.107G>A (p.G36E, p.(Gly36Glu)) - HCN4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.107G>A r.(?) p.(Gly36Glu) - likely benign g.73660505C>T - HCN4(NM_005477.3):c.107G>A (p.G36E, p.(Gly36Glu)) - HCN4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.130A>C r.(?) p.(Ser44Arg) - VUS g.73660482T>G g.73368141T>G - - HCN4_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.165_170dup r.(?) p.(Pro58_Ser59dup) - VUS g.73660448_73660453dup - - - HCN4_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.169T>C r.(?) p.(Ser57Pro) - VUS g.73660443A>G g.73368102A>G - - HCN4_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.174C>T r.(?) p.(Pro58=) - benign g.73660438G>A g.73368097G>A HCN4(NM_005477.3):c.174C>T (p.P58=) - HCN4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.182C>T r.(?) p.(Ala61Val) - likely benign g.73660430G>A - HCN4(NM_005477.2):c.182C>T (p.A61V) - HCN4_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.186G>A r.(?) p.(Ala62=) - VUS g.73660426C>T g.73368085C>T HCN4(NM_005477.3):c.186G>A (p.A62=) - HCN4_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.196G>C r.(?) p.(Glu66Gln) - VUS g.73660416C>G g.73368075C>G HCN4(NM_005477.3):c.196G>C (p.E66Q) - HCN4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.212C>T r.(?) p.(Ala71Val) - VUS g.73660400G>A - HCN4(NM_005477.3):c.212C>T (p.A71V) - HCN4_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.214C>T r.(?) p.(Leu72Phe) - VUS g.73660398G>A - HCN4(NM_005477.3):c.214C>T (p.L72F) - HCN4_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.248G>A r.(?) p.(Gly83Asp) - likely benign g.73660364C>T g.73368023C>T - - HCN4_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.272G>A r.(?) p.(Gly91Asp) - VUS g.73660340C>T - HCN4(NM_005477.3):c.272G>A (p.G91D) - HCN4_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.294G>A r.(?) p.(Gly98=) - benign g.73660318C>T g.73367977C>T HCN4(NM_005477.3):c.294G>A (p.G98=) - HCN4_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.302C>T r.(?) p.(Ala101Val) - VUS g.73660310G>A - HCN4(NM_005477.3):c.302C>T (p.A101V) - HCN4_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.331G>A r.(?) p.(Gly111Ser) - VUS g.73660281C>T g.73367940C>T HCN4(NM_005477.3):c.331G>A (p.G111S) - HCN4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.368A>C r.(?) p.(His123Pro) - likely benign g.73660244T>G g.73367903T>G - - HCN4_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.394A>C r.(?) p.(Ile132Leu) - VUS g.73660218T>G - HCN4(NM_005477.3):c.394A>C (p.I132L) - HCN4_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.453G>A r.(?) p.(=) - benign g.73660159C>T - HCN4(NM_005477.3):c.453G>A (p.E151=) - HCN4_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.457G>A r.(?) p.(Glu153Lys) - VUS g.73660155C>T - - - HCN4_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.458A>G r.(?) p.(Glu153Gly) - benign g.73660154T>C g.73367813T>C HCN4(NM_005477.2):c.458A>G (p.E153G), HCN4(NM_005477.3):c.458A>G (p.E153G) - HCN4_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.458A>G r.(?) p.(Glu153Gly) - likely benign g.73660154T>C g.73367813T>C HCN4(NM_005477.2):c.458A>G (p.E153G), HCN4(NM_005477.3):c.458A>G (p.E153G) - HCN4_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.458A>G r.(?) p.(Glu153Gly) - likely benign g.73660154T>C g.73367813T>C HCN4(NM_005477.2):c.458A>G (p.E153G), HCN4(NM_005477.3):c.458A>G (p.E153G) - HCN4_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.458A>G r.(?) p.(Glu153Gly) - likely benign g.73660154T>C - HCN4(NM_005477.2):c.458A>G (p.E153G), HCN4(NM_005477.3):c.458A>G (p.E153G) - HCN4_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.489C>T r.(?) p.(Ala163=) - likely benign g.73660123G>A - HCN4(NM_005477.3):c.489C>T (p.A163=) - HCN4_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.497C>T r.(?) p.(Pro166Leu) - VUS g.73660115G>A g.73367774G>A HCN4(NM_005477.2):c.497C>T (p.P166L), HCN4(NM_005477.3):c.497C>T (p.P166L) - HCN4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.497C>T r.(?) p.(Pro166Leu) - VUS g.73660115G>A g.73367774G>A HCN4(NM_005477.2):c.497C>T (p.P166L), HCN4(NM_005477.3):c.497C>T (p.P166L) - HCN4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.514C>T r.(?) p.(Pro172Ser) - VUS g.73660098G>A g.73367757G>A HCN4(NM_005477.2):c.514C>T (p.P172S), HCN4(NM_005477.3):c.514C>T (p.P172S) - HCN4_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.514C>T r.(?) p.(Pro172Ser) - likely benign g.73660098G>A - HCN4(NM_005477.2):c.514C>T (p.P172S), HCN4(NM_005477.3):c.514C>T (p.P172S) - HCN4_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.515C>G r.(?) p.(Pro172Arg) - VUS g.73660097G>C g.73367756G>C HCN4(NM_005477.3):c.515C>G (p.P172R) - HCN4_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.520C>T r.(?) p.(Pro174Ser) - VUS g.73660092G>A g.73367751G>A HCN4(NM_005477.3):c.520C>T (p.P174S) - HCN4_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.546C>G r.(?) p.(Pro182=) - benign g.73660066G>C - HCN4(NM_005477.3):c.546C>G (p.P182=) - HCN4_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.546C>G r.(?) p.(Pro182=) - benign g.73660066G>C - HCN4(NM_005477.3):c.546C>G (p.P182=) - HCN4_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.549G>T r.(?) p.(Ser183=) - likely benign g.73660063C>A g.73367722C>A - - HCN4_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.559G>A r.(?) p.(Ala187Thr) - likely benign g.73660053C>T - HCN4(NM_005477.3):c.559G>A (p.A187T) - HCN4_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.559G>A r.(?) p.(Ala187Thr) - VUS g.73660053C>T - HCN4(NM_005477.3):c.559G>A (p.A187T) - HCN4_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.561T>C r.(?) p.(Ala187=) - benign g.73660051A>G g.73367710A>G HCN4(NM_005477.3):c.561T>C (p.A187=) - HCN4_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.571G>C r.(?) p.(Glu191Gln) - VUS g.73660041C>G - HCN4(NM_005477.3):c.571G>C (p.E191Q) - HCN4_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.581C>G r.(?) p.(Ala194Gly) - VUS g.73660031G>C - HCN4(NM_005477.2):c.581C>G (p.A194G) - HCN4_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.584C>T r.(?) p.(Ala195Val) - benign g.73660028G>A g.73367687G>A HCN4(NM_005477.3):c.584C>T (p.A195V) - HCN4_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.588C>T r.(?) p.(Ala196=) - likely benign g.73660024G>A g.73367683G>A - - HCN4_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.606G>A r.(?) p.(Pro202=) - benign g.73660006C>T g.73367665C>T HCN4(NM_005477.3):c.606G>A (p.P202=) - HCN4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.621C>G r.(?) p.(Arg207=) - benign g.73659991G>C g.73367650G>C HCN4(NM_005477.3):c.621C>G (p.R207=) - HCN4_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.621C>G r.(?) p.(Arg207=) - likely benign g.73659991G>C g.73367650G>C HCN4(NM_005477.3):c.621C>G (p.R207=) - HCN4_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.621C>G r.(?) p.(Arg207=) - likely benign g.73659991G>C g.73367650G>C HCN4(NM_005477.3):c.621C>G (p.R207=) - HCN4_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.631G>C r.(?) p.(Ala211Pro) - VUS g.73659981C>G g.73367640C>G HCN4(NM_005477.3):c.631G>C (p.A211P) - HCN4_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.663G>T r.(?) p.(Met221Ile) - VUS g.73659949C>A - - - HCN4_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.697A>G r.(?) p.(Met233Val) - VUS g.73659915T>C - HCN4(NM_005477.3):c.697A>G (p.M233V) - HCN4_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.697A>T r.(?) p.(Met233Leu) - VUS g.73659915T>A - HCN4(NM_005477.3):c.697A>T (p.M233L) - HCN4_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.785+18T>A r.(=) p.(=) - benign g.73659809A>T g.73367468A>T HCN4(NM_005477.3):c.785+18T>A - HCN4_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.785+18T>A r.(=) p.(=) - likely benign g.73659809A>T g.73367468A>T HCN4(NM_005477.3):c.785+18T>A - HCN4_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.786-4G>A r.spl? p.? - benign g.73636153C>T - HCN4(NM_005477.3):c.786-4G>A - HCN4_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.798C>T r.(?) p.(Asp266=) - benign g.73636137G>A g.73343796G>A HCN4(NM_005477.3):c.798C>T (p.D266=) - HCN4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.859T>C r.(?) p.(Phe287Leu) - likely pathogenic g.73636076A>G - HCN4(NM_005477.3):c.859T>C (p.F287L) - HCN4_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.943C>T r.(?) p.(Arg315Cys) - VUS g.73635992G>A - HCN4(NM_005477.2):c.943C>T (p.(Arg315Cys)) - HCN4_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.944G>A r.(?) p.(Arg315His) - VUS g.73635991C>T g.73343650C>T HCN4(NM_005477.3):c.944G>A (p.R315H) - HCN4_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.954C>T r.(?) p.(Ile318=) - benign g.73635981G>A g.73343640G>A HCN4(NM_005477.3):c.954C>T (p.I318=) - HCN4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1014G>C r.(?) p.(=) - benign g.73635921C>G - HCN4(NM_005477.3):c.1014G>C (p.L338=) - HCN4_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1053C>T r.(?) p.(Pro351=) - benign g.73635882G>A g.73343541G>A HCN4(NM_005477.2):c.1053C>T (p.P351=), HCN4(NM_005477.3):c.1053C>T (p.P351=) - HCN4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1053C>T r.(?) p.(Pro351=) - likely benign g.73635882G>A g.73343541G>A HCN4(NM_005477.2):c.1053C>T (p.P351=), HCN4(NM_005477.3):c.1053C>T (p.P351=) - HCN4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1053C>T r.(?) p.(Pro351=) - likely benign g.73635882G>A g.73343541G>A HCN4(NM_005477.2):c.1053C>T (p.P351=), HCN4(NM_005477.3):c.1053C>T (p.P351=) - HCN4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1053C>T r.(?) p.(Pro351=) - likely benign g.73635882G>A g.73343541G>A HCN4(NM_005477.2):c.1053C>T (p.P351=), HCN4(NM_005477.3):c.1053C>T (p.P351=) - HCN4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1053C>T r.(?) p.(Pro351=) - likely benign g.73635882G>A - HCN4(NM_005477.2):c.1053C>T (p.P351=), HCN4(NM_005477.3):c.1053C>T (p.P351=) - HCN4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1084C>T r.(?) p.(Arg362Cys) - VUS g.73635851G>A - HCN4(NM_005477.3):c.1084C>T (p.R362C) - HCN4_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1089C>T r.(?) p.(Ile363=) - benign g.73635846G>A g.73343505G>A HCN4(NM_005477.2):c.1089C>T (p.I363=), HCN4(NM_005477.3):c.1089C>T (p.I363=) - HCN4_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1089C>T r.(?) p.(Ile363=) - likely benign g.73635846G>A g.73343505G>A HCN4(NM_005477.2):c.1089C>T (p.I363=), HCN4(NM_005477.3):c.1089C>T (p.I363=) - HCN4_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1090G>A r.(?) p.(Asp364Asn) - likely benign g.73635845C>T g.73343504C>T HCN4(NM_005477.3):c.1090G>A (p.D364N) - HCN4_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1090G>A r.(?) p.(Asp364Asn) - likely benign g.73635845C>T g.73343504C>T HCN4(NM_005477.3):c.1090G>A (p.D364N) - HCN4_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1090G>A r.(?) p.(Asp364Asn) - VUS g.73635845C>T - HCN4(NM_005477.3):c.1090G>A (p.D364N) - HCN4_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1094C>T r.(?) p.(Ser365Leu) - VUS g.73635841G>A - HCN4(NM_005477.3):c.1094C>T (p.S365L) - HCN4_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1115G>A r.(?) p.(Arg372Gln) - VUS g.73635820C>T - HCN4(NM_005477.3):c.1115G>A (p.R372Q) - HCN4_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1123C>T r.(?) p.(Arg375Cys) - likely pathogenic g.73635812G>A g.73343471G>A HCN4(NM_005477.3):c.1123C>T (p.R375C) - HCN4_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1124G>A r.(?) p.(Arg375His) - VUS g.73635811C>T g.73343470C>T HCN4(NM_005477.3):c.1124G>A (p.R375H) - HCN4_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1124G>A r.(?) p.(Arg375His) - pathogenic g.73635811C>T - HCN4(NM_005477.3):c.1124G>A (p.R375H) - HCN4_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1124G>A r.(?) p.(Arg375His) - pathogenic g.73635811C>T - HCN4(NM_005477.3):c.1124G>A (p.R375H) - HCN4_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1132C>T r.(?) p.(Arg378Cys) - VUS g.73635803G>A g.73343462G>A HCN4(NM_005477.3):c.1132C>T (p.R378C) - HCN4_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1132C>T r.(?) p.(Arg378Cys) - VUS g.73635803G>A g.73343462G>A HCN4(NM_005477.3):c.1132C>T (p.R378C) - HCN4_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1140G>A r.(?) p.(Thr380=) - benign g.73635795C>T - HCN4(NM_005477.3):c.1140G>A (p.T380=) - HCN4_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1162C>T r.(?) p.(Leu388=) - likely benign g.73635773G>A g.73343432G>A HCN4(NM_005477.3):c.1162C>T (p.L388=) - HCN4_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1162C>T r.(?) p.(Leu388=) - benign g.73635773G>A - HCN4(NM_005477.3):c.1162C>T (p.L388=) - HCN4_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1209+15C>T r.(=) p.(=) - benign g.73635711G>A g.73343370G>A HCN4(NM_005477.3):c.1209+15C>T - HCN4_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1210-4G>A r.spl? p.? - likely benign g.73624637C>T g.73332296C>T HCN4(NM_005477.3):c.1210-4G>A - HCN4_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1227C>T r.(?) p.(Tyr409=) - likely benign g.73624616G>A g.73332275G>A - - HCN4_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1241C>G r.(?) p.(Ala414Gly) - pathogenic g.73624602G>C - HCN4(NM_005477.3):c.1241C>G (p.A414G) - HCN4_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1254C>T r.(?) p.(Ile418=) - benign g.73624589G>A g.73332248G>A HCN4(NM_005477.2):c.1254C>T (p.I418=), HCN4(NM_005477.3):c.1254C>T (p.I418=) - HCN4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1254C>T r.(?) p.(Ile418=) - likely benign g.73624589G>A g.73332248G>A HCN4(NM_005477.2):c.1254C>T (p.I418=), HCN4(NM_005477.3):c.1254C>T (p.I418=) - HCN4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1254C>T r.(?) p.(Ile418=) - likely benign g.73624589G>A g.73332248G>A HCN4(NM_005477.2):c.1254C>T (p.I418=), HCN4(NM_005477.3):c.1254C>T (p.I418=) - HCN4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1254C>T r.(?) p.(Ile418=) - likely benign g.73624589G>A - HCN4(NM_005477.2):c.1254C>T (p.I418=), HCN4(NM_005477.3):c.1254C>T (p.I418=) - HCN4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1266C>T r.(?) p.(Ile422=) - likely benign g.73624577G>A g.73332236G>A HCN4(NM_005477.3):c.1266C>T (p.I422=) - HCN4_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1270A>G r.(?) p.(Met424Val) - VUS g.73624573T>C - HCN4(NM_005477.2):c.1270A>G (p.M424V) - HCN4_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1303C>T r.(?) p.(Leu435=) - benign g.73624540G>A - HCN4(NM_005477.3):c.1303C>T (p.L435=) - HCN4_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1303C>T r.(?) p.(Leu435=) - likely benign g.73624540G>A - HCN4(NM_005477.3):c.1303C>T (p.L435=) - HCN4_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1303C>T r.(?) p.(Leu435=) - likely benign g.73624540G>A - HCN4(NM_005477.3):c.1303C>T (p.L435=) - HCN4_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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