KCNH2 Paralogue Annotation
This page details the annotation of KCNH2 with disease causing variants in the following paralogues: CNGA3, CNGB3, HCN4, CNGB1, HCN1, CNGA1, HCN2, KCNH6, KCNH5, KCNH7, KCNH1, CNGA4. Click here to see the multiple sequence alignment of KCNH2 with all paralogues.
The paralogue variant mappings to KCNH2 are based on the Locus Reference Genomic entry for KCNH2 - LRG_288. This is based on the transcript ENST00000262186 and protein ENSP00000262186 (1159 amino acids) for the Ensembl gene ENSG00000055118.
- Paralogue Annotations
- Known KCNH2 Variants
- All Variants and Paralogue Annotations
Amino acid residues of KCNH2 with known missense variants are shown below, along with details about the KCNH2 protein domain and known missense variant status for these residues (the number of published reports for the residue is in parentheses), and any disease-causing paralogue missense variants that have been mapped to the residue, including the consensus from the M-Coffee multiple sequence alignment at this mapping and the disease(s) associated with the paralogue variant(s). Click on the residue to see further details about the known KCNH2 variants and the mapped paralogue variants.
| Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
|---|---|---|---|---|
| 1-M | N-terminus | Arrhythmia (2) | ||
| 6-G | N-terminus | Arrhythmia (2) | ||
| 7-H | N-terminus | None | ||
| 9-A | N-terminus | None | ||
| 13-T | N-terminus | Arrhythmia (0) | ||
| 15-L | N-terminus | None | ||
| 16-D | N-terminus | Arrhythmia (2) | ||
| 18-I | N-terminus | Prob. Benign (0) | ||
| 19-I | N-terminus | Arrhythmia (1) | ||
| 20-R | N-terminus | Arrhythmia (3) | ||
| 22-F | N-terminus | Arrhythmia (2) | ||
| 26-S | N-terminus | Arrhythmia (5) | ||
| 27-R | N-terminus | Arrhythmia (1) | ||
| 28-K | N-terminus | Arrhythmia (6) | ||
| 29-F | N-terminus | Arrhythmia (17) | ||
| 30-I | N-terminus | Arrhythmia (2) | ||
| 31-I | N-terminus | Arrhythmia (6) | ||
| 32-A | N-terminus | Arrhythmia (2) | ||
| 33-N | N-terminus | Arrhythmia (10) | ||
| 35-R | N-terminus | Arrhythmia (2) | ||
| 39-C | N-terminus | Arrhythmia (1) | ||
| 40-A | N-terminus | None | ||
| 41-V | N-terminus | Arrhythmia (3) | ||
| 42-I | N-terminus | Arrhythmia (3) | ||
| 43-Y | N-terminus | Arrhythmia (6) | ||
| 44-C | N-terminus | Arrhythmia (5) | ||
| 45-N | N-terminus | Arrhythmia (5) | ||
| 46-D | N-terminus | Prob. Benign (0) | ||
| 47-G | N-terminus | Arrhythmia (4) | ||
| 49-C | N-terminus | Arrhythmia (3) | ||
| 50-E | N-terminus | Arrhythmia (2) | ||
| 52-C | N-terminus | Prob. Benign (0) | ||
| 53-G | N-terminus | Arrhythmia (11) | ||
| 54-Y | N-terminus | Arrhythmia (2) | ||
| 55-S | N-terminus | Arrhythmia (3) | ||
| 56-R | N-terminus | Arrhythmia (8) | ||
| 57-A | N-terminus | Arrhythmia (1) | ||
| 58-E | N-terminus | Arrhythmia (8) | ||
| 61-Q | N-terminus | Arrhythmia (1) | ||
| 62-R | N-terminus | Arrhythmia (1) | ||
| 63-P | N-terminus | Arrhythmia (1) | ||
| 64-C | N-terminus | Arrhythmia (8) | ||
| 65-T | N-terminus | Arrhythmia (4) | ||
| 66-C | N-terminus | Arrhythmia (7) | ||
| 68-F | N-terminus | Arrhythmia (3) | ||
| 69-L | N-terminus | Arrhythmia (2) | ||
| 70-H | N-terminus | Arrhythmia (14) | ||
| 71-G | N-terminus | Arrhythmia (6) | ||
| 72-P | N-terminus | Arrhythmia (9) | ||
| 73-R | N-terminus | Prob. Benign (0) | ||
| 74-T | N-terminus | Arrhythmia (9) | ||
| 77-R | N-terminus | Prob. Benign (0) | ||
| 78-A | N-terminus | Arrhythmia (11) | ||
| 79-A | N-terminus | None | ||
| 80-A | N-terminus | Arrhythmia (2) | ||
| 81-Q | N-terminus | Arrhythmia (1) | ||
| 82-I | N-terminus | Arrhythmia (1) | ||
| 83-A | N-terminus | None | ||
| 85-A | N-terminus | Arrhythmia (4) | ||
| 86-L | N-terminus | Arrhythmia (9) | ||
| 87-L | N-terminus | Arrhythmia (5) | ||
| 89-A | N-terminus | Arrhythmia (1) | ||
| 90-E | N-terminus | Arrhythmia (1) | ||
| 92-R | N-terminus | Prob. Benign (0) | ||
| 93-K | N-terminus | Arrhythmia (1) | ||
| 94-V | N-terminus | Arrhythmia (3) | ||
| 95-E | N-terminus | Arrhythmia (1) | ||
| 96-I | N-terminus | Arrhythmia (6) | ||
| 97-A | N-terminus | Prob. Benign (0) | ||
| 98-F | N-terminus | Arrhythmia (2) | ||
| 99-Y | N-terminus | Arrhythmia (5) | 4 | HCN2 - Febrile seizures |
| 100-R | N-terminus | Arrhythmia (7) | ||
| 101-K | N-terminus | Arrhythmia (5) | ||
| 102-D | N-terminus | Arrhythmia (4) | ||
| 106-F | N-terminus | Arrhythmia (5) | ||
| 108-C | N-terminus | Arrhythmia (2) | ||
| 109-L | N-terminus | Arrhythmia (2) | ||
| 111-D | N-terminus | Arrhythmia (2) | ||
| 112-V | N-terminus | Prob. Benign (0) | ||
| 114-P | N-terminus | Arrhythmia (4) | ||
| 115-V | N-terminus | Arrhythmia (4) | ||
| 118-E | N-terminus | Prob. Benign (0) | ||
| 119-D | N-terminus | Other Cardiac (1) | ||
| 124-M | N-terminus | Arrhythmia (8) | ||
| 125-F | N-terminus | Arrhythmia (2) | ||
| 127-L | N-terminus | None | ||
| 128-N | N-terminus | Prob. Benign (0) | ||
| 129-F | N-terminus | Arrhythmia (1) | ||
| 130-E | N-terminus | Arrhythmia (2) | ||
| 131-V | N-terminus | Prob. Benign (0) | ||
| 133-M | N-terminus | None | ||
| 137-M | N-terminus | Prob. Benign (0) | ||
| 141-P | N-terminus | Arrhythmia (3) | 2 | CNGA3 - Progressive cone dystrophy ? |
| 142-A | N-terminus | Prob. Benign (0) | ||
| 144-D | N-terminus | Prob. Benign (0) | ||
| 147-H | N-terminus | Prob. Benign (0) | ||
| 148-R | N-terminus | Conflict (11) | ||
| 149-G | N-terminus | Arrhythmia (1) | ||
| 150-P | N-terminus | Benign (0) | ||
| 152-T | N-terminus | Arrhythmia (1) | ||
| 154-W | N-terminus | Prob. Benign (0) | ||
| 161-K | N-terminus | None | 1 | HCN4 - Sudden infant death syndrome |
| 164-R | N-terminus | Arrhythmia (3) | 1 | CNGB1 - Retinitis pigmentosa, autosomal recessive |
| 169-A | N-terminus | Arrhythmia (1) | ||
| 172-A | N-terminus | Arrhythmia (1) | ||
| 175-A | N-terminus | Prob. Benign (0) | ||
| 176-R | N-terminus | Conflict (15) | ||
| 181-R | N-terminus | Benign (3) | ||
| 187-G | N-terminus | Prob. Benign (2) | ||
| 188-A | N-terminus | None | ||
| 190-A | N-terminus | Prob. Benign (2) | ||
| 197-D | N-terminus | Arrhythmia (1) | ||
| 198-V | N-terminus | Prob. Benign (0) | ||
| 199-D | N-terminus | Prob. Benign (0) | ||
| 200-L | N-terminus | Prob. Benign (0) | ||
| 201-T | N-terminus | None | ||
| 203-A | N-terminus | Prob. Benign (2) | ||
| 204-A | N-terminus | Prob. Benign (0) | ||
| 205-P | N-terminus | Prob. Benign (0) | ||
| 213-D | N-terminus | Prob. Benign (1) | ||
| 214-E | N-terminus | Prob. Benign (0) | ||
| 215-V | N-terminus | Prob. Benign (2) | ||
| 218-M | N-terminus | Arrhythmia (1) | ||
| 219-D | N-terminus | Arrhythmia (1) | ||
| 221-H | N-terminus | Other Cardiac (1) | ||
| 224-G | N-terminus | None | ||
| 227-P | N-terminus | Prob. Benign (0) | ||
| 232-R | N-terminus | None | ||
| 233-A | N-terminus | Prob. Benign (0) | ||
| 236-G | N-terminus | Prob. Benign (1) | ||
| 238-G | N-terminus | Arrhythmia (1) | ||
| 240-P | N-terminus | None | ||
| 241-P | N-terminus | Arrhythmia (1) | ||
| 242-R | N-terminus | Arrhythmia (1) | ||
| 244-A | N-terminus | Prob. Benign (0) | ||
| 245-P | N-terminus | None | ||
| 251-P | N-terminus | Arrhythmia (3) | ||
| 252-R | N-terminus | Arrhythmia (1) | ||
| 253-A | N-terminus | None | ||
| 254-H | N-terminus | Prob. Benign (2) | ||
| 257-N | N-terminus | Prob. Benign (2) | ||
| 259-D | N-terminus | Arrhythmia (1) | ||
| 260-A | N-terminus | Prob. Benign (0) | ||
| 269-R | N-terminus | Arrhythmia (1) | ||
| 270-T | N-terminus | None | ||
| 271-R | N-terminus | None | ||
| 272-S | N-terminus | Prob. Benign (0) | ||
| 273-R | N-terminus | Other Cardiac (1) | ||
| 277-A | N-terminus | Arrhythmia (1) | ||
| 279-V | N-terminus | Other Cardiac (1) | ||
| 280-R | N-terminus | Prob. Benign (0) | ||
| 285-A | N-terminus | None | ||
| 289-E | N-terminus | Arrhythmia (1) | ||
| 290-A | N-terminus | Prob. Benign (0) | 1 | CNGB1 - Retinitis pigmentosa |
| 291-M | N-terminus | Arrhythmia (1) | ||
| 293-A | N-terminus | None | ||
| 294-G | N-terminus | Other Cardiac (1) | ||
| 297-P | N-terminus | Arrhythmia (3) | ||
| 301-R | N-terminus | Arrhythmia (1) | ||
| 306-G | N-terminus | Arrhythmia (4) | ||
| 307-A | N-terminus | Prob. Benign (0) | ||
| 308-M | N-terminus | Arrhythmia (1) | ||
| 309-H | N-terminus | Prob. Benign (0) | ||
| 310-P | N-terminus | Prob. Benign (0) | ||
| 311-L | N-terminus | Prob. Benign (0) | ||
| 312-R | N-terminus | Arrhythmia (4) | ||
| 314-G | N-terminus | Arrhythmia (1) | ||
| 320-S | N-terminus | Arrhythmia (2) | ||
| 321-D | N-terminus | None | ||
| 323-D | N-terminus | Arrhythmia (1) | ||
| 325-V | N-terminus | Prob. Benign (0) | ||
| 326-R | N-terminus | Prob. Benign (0) | ||
| 327-Y | N-terminus | Prob. Benign (0) | ||
| 328-R | N-terminus | Conflict (13) | ||
| 331-S | N-terminus | Prob. Benign (0) | ||
| 334-P | N-terminus | Arrhythmia (1) | 1 | CNGB3 - Achromatopsia |
| 337-T | N-terminus | Prob. Benign (0) | ||
| 340-F | N-terminus | Prob. Benign (0) | ||
| 342-D | N-terminus | Other Cardiac (1) | 1 | CNGB3 - Achromatopsia |
| 345-G | N-terminus | Prob. Benign (0) | ||
| 346-D | N-terminus | Prob. Benign (0) | ||
| 347-P | N-terminus | Conflict (14) | ||
| 348-F | N-terminus | None | ||
| 351-S | N-terminus | Prob. Benign (0) | ||
| 353-T | N-terminus | Prob. Benign (0) | ||
| 356-R | N-terminus | Arrhythmia (1) | ||
| 357-E | N-terminus | Prob. Benign (0) | ||
| 359-I | N-terminus | Prob. Benign (0) | ||
| 365-E | N-terminus | Arrhythmia (1) | ||
| 367-T | N-terminus | Prob. Benign (2) | ||
| 369-N | N-terminus | Prob. Benign (0) | ||
| 370-V | N-terminus | Prob. Benign (0) | ||
| 379-S | N-terminus | Prob. Benign (0) | ||
| 393-P | N-terminus | Arrhythmia (1) | ||
| 394-R | N-terminus | Prob. Benign (0) | 5 | KCNH7 - Bipolar spectrum disorder |
| 397-R | N-terminus | Prob. Benign (0) | ||
| 400-I | N-terminus | Arrhythmia (2) | ||
| 402-H | N-terminus | Arrhythmia (2) | 9 | CNGA1 - Usher syndrome CNGA3 - Colour-blindness, total HCN4 - Atrial fibrillation |
| 409-V | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 410-W | Transmembrane/Linker/Pore | Arrhythmia (1) | 7 | CNGA3 - Cone dystrophy |
| 411-D | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 413-L | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 420-Y | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | CNGA3 - Colour-blindness, total |
| 421-T | Transmembrane/Linker/Pore | Arrhythmia (5) | 9 | CNGA3 - Colour-blindness, total |
| 422-A | Transmembrane/Linker/Pore | Arrhythmia (5) | ||
| 426-P | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 427-Y | Transmembrane/Linker/Pore | Arrhythmia (6) | ||
| 428-S | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 429-A | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 431-F | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 435-E | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 436-T | Transmembrane/Linker/Pore | Arrhythmia (6) | ||
| 438-E | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 440-P | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 441-P | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 443-T | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 444-E | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 448-A | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 451-P | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 456-D | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 457-L | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 458-I | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 460-D | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | CNGA3 - Achromatopsia |
| 463-F | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 466-D | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 468-L | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 470-N | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 472-R | Transmembrane/Linker/Pore | Prob. Benign (0) | 9 | CNGA3 - Achromatopsia, Colour-blindness, total |
| 473-T | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | CNGA3 - Colour-blindness, total, Cone dystrophy |
| 474-T | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 475-Y | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 476-V | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 480-E | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 483-V | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 486-P | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 487-G | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 488-R | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 489-I | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 490-A | Transmembrane/Linker/Pore | Arrhythmia (7) | ||
| 491-V | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 492-H | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 493-Y | Transmembrane/Linker/Pore | Arrhythmia (7) | ||
| 497-W | Transmembrane/Linker/Pore | Arrhythmia (1) | 7 | CNGA3 - Cone dystrophy |
| 499-L | Transmembrane/Linker/Pore | None | ||
| 501-D | Transmembrane/Linker/Pore | Arrhythmia (8) | 9 | CNGA3 - Achromatopsia |
| 502-M | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 505-A | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 506-I | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 507-P | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | CNGA3 - Cone dystrophy CNGB3 - Achromatopsia |
| 509-D | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | CNGA3 - Colour-blindness, total |
| 512-I | Transmembrane/Linker/Pore | Benign (0) | 9 | CNGA3 - Achromatopsia |
| 514-G | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 522-G | Transmembrane/Linker/Pore | Arrhythmia (1) | 6 | CNGA3 - Achromatopsia, Cone dystrophy CNGB1 - Retinitis pigmentosa |
| 525-K | Transmembrane/Linker/Pore | Arrhythmia (1) | 6 | CNGA3 - Achromatopsia, Colour-blindness, total CNGB1 - Retinitis pigmentosa, Retinitis pigmentosa & rod cone dystrophy |
| 528-R | Transmembrane/Linker/Pore | Arrhythmia (1) | 6 | CNGA1 - Retinitis pigmentosa, autosomal recessive KCNH1 - Hypotonia, seizures and developmental delay, Intellectual disability KCNH5 - Epileptic encephalopathy |
| 531-R | Transmembrane/Linker/Pore | Arrhythmia (4) | 6 | CNGA3 - Colour-blindness, total |
| 533-V | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 534-R | Transmembrane/Linker/Pore | Arrhythmia (17) | ||
| 535-V | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 537-R | Transmembrane/Linker/Pore | Arrhythmia (1) | 6 | HCN1 - Epileptic encephalopathy, early infantile |
| 538-K | Transmembrane/Linker/Pore | None | ||
| 541-R | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 544-E | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 547-A | Transmembrane/Linker/Pore | Prob. Benign (0) | 6 | HCN4 - Bradycardia & left ventricular noncompaction cardi |
| 552-L | Transmembrane/Linker/Pore | Arrhythmia (13) | ||
| 553-L | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 558-A | Transmembrane/Linker/Pore | Arrhythmia (6) | ||
| 559-L | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 560-I | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 561-A | Transmembrane/Linker/Pore | Arrhythmia (37) | ||
| 562-H | Transmembrane/Linker/Pore | Arrhythmia (8) | ||
| 563-W | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 564-L | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 565-A | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 566-C | Transmembrane/Linker/Pore | Arrhythmia (5) | 9 | CNGA3 - Cone-rod dystrophy |
| 567-I | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 568-W | Transmembrane/Linker/Pore | Arrhythmia (10) | ||
| 569-Y | Transmembrane/Linker/Pore | Arrhythmia (4) | 9 | CNGA3 - Cone dystrophy |
| 571-I | Transmembrane/Linker/Pore | Arrhythmia (6) | ||
| 572-G | Transmembrane/Linker/Pore | Arrhythmia (26) | ||
| 574-M | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 575-E | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 576-Q | Transmembrane/Linker/Pore | Prob. Benign (0) | 9 | CNGA3 - Achromatopsia |
| 578-H | Transmembrane/Linker/Pore | None | 9 | CNGA3 - Achromatopsia CNGA4 - Amyotrophic lateral sclerosis |
| 579-M | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 580-D | Transmembrane/Linker/Pore | None | ||
| 582-R | Transmembrane/Linker/Pore | Arrhythmia (12) | ||
| 583-I | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 584-G | Transmembrane/Linker/Pore | Arrhythmia (12) | 8 | CNGA3 - Cone dystrophy |
| 585-W | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 586-L | Transmembrane/Linker/Pore | Arrhythmia (1) | 8 | CNGA3 - Achromatopsia |
| 588-N | Transmembrane/Linker/Pore | Arrhythmia (16) | ||
| 590-G | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 591-D | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 593-I | Transmembrane/Linker/Pore | Arrhythmia (10) | ||
| 594-G | Transmembrane/Linker/Pore | Arrhythmia (4) | 5 | CNGA3 - Colour-blindness, total |
| 595-K | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 596-P | Transmembrane/Linker/Pore | Arrhythmia (11) | ||
| 597-Y | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 599-S | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 601-G | Transmembrane/Linker/Pore | Arrhythmia (19) | ||
| 602-L | Transmembrane/Linker/Pore | None | ||
| 603-G | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 604-G | Transmembrane/Linker/Pore | Arrhythmia (16) | ||
| 605-P | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 606-S | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 609-D | Transmembrane/Linker/Pore | Arrhythmia (11) | ||
| 610-K | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 611-Y | Transmembrane/Linker/Pore | Arrhythmia (7) | ||
| 612-V | Transmembrane/Linker/Pore | Arrhythmia (3) | 8 | CNGA3 - Achromatopsia |
| 613-T | Transmembrane/Linker/Pore | Arrhythmia (22) | ||
| 614-A | Transmembrane/Linker/Pore | Arrhythmia (19) | ||
| 615-L | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 616-Y | Transmembrane/Linker/Pore | Arrhythmia (2) | 9 | CNGA3 - Oligocone trichromacy |
| 617-F | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 618-T | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 620-S | Transmembrane/Linker/Pore | Arrhythmia (2) | 9 | CNGB3 - Progressive cone dystrophy |
| 621-S | Transmembrane/Linker/Pore | Arrhythmia (7) | ||
| 622-L | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | CNGA3 - Achromatopsia |
| 623-T | Transmembrane/Linker/Pore | Arrhythmia (6) | ||
| 624-S | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 625-V | Transmembrane/Linker/Pore | Arrhythmia (5) | 9 | CNGA4 - Amyotrophic lateral sclerosis |
| 626-G | Transmembrane/Linker/Pore | Arrhythmia (9) | 9 | CNGA1 - Retinitis pigmentosa CNGA3 - Achromatopsia |
| 627-F | Transmembrane/Linker/Pore | Arrhythmia (7) | 7 | HCN4 - Bradycardia & left ventricular noncompaction cardi |
| 628-G | Transmembrane/Linker/Pore | Arrhythmia (24) | 8 | HCN4 - Bradycardia & left ventricular noncompaction cardi, Sinus bradycardia & myocardial noncompaction |
| 629-N | Transmembrane/Linker/Pore | Arrhythmia (20) | 9 | CNGA3 - Colour-blindness, total |
| 630-V | Transmembrane/Linker/Pore | Arrhythmia (9) | ||
| 631-S | Transmembrane/Linker/Pore | Arrhythmia (2) | 9 | HCN4 - Sinus bradycardia |
| 632-P | Transmembrane/Linker/Pore | Arrhythmia (3) | 9 | CNGA3 - Colour-blindness, total |
| 633-N | Transmembrane/Linker/Pore | Arrhythmia (14) | ||
| 634-T | Transmembrane/Linker/Pore | Arrhythmia (3) | ||
| 635-N | Transmembrane/Linker/Pore | Arrhythmia (7) | ||
| 637-E | Transmembrane/Linker/Pore | Arrhythmia (7) | ||
| 638-K | Transmembrane/Linker/Pore | Arrhythmia (7) | ||
| 640-F | Transmembrane/Linker/Pore | Arrhythmia (10) | 9 | CNGA3 - Colour-blindness, total |
| 641-S | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 642-I | Transmembrane/Linker/Pore | Arrhythmia (1) | 9 | CNGB3 - Cone-rod dystrophy |
| 644-V | Transmembrane/Linker/Pore | Arrhythmia (5) | ||
| 645-M | Transmembrane/Linker/Pore | Arrhythmia (10) | ||
| 646-L | Transmembrane/Linker/Pore | Prob. Benign (0) | ||
| 648-G | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 649-S | Transmembrane/Linker/Pore | Arrhythmia (4) | ||
| 654-S | Transmembrane/Linker/Pore | Arrhythmia (2) | ||
| 656-F | Transmembrane/Linker/Pore | Arrhythmia (1) | ||
| 657-G | Transmembrane/Linker/Pore | Arrhythmia (6) | 9 | CNGA3 - Achromatopsia KCNH1 - Hypotonia, seizures and developmental delay, Zimmermann-Laband syndrome |
| 660-S | C-terminus | Arrhythmia (2) | ||
| 661-A | C-terminus | Prob. Benign (0) | 9 | CNGA3 - Achromatopsia |
| 662-I | C-terminus | Arrhythmia (4) | ||
| 668-S | C-terminus | Prob. Benign (0) | ||
| 671-A | C-terminus | Prob. Benign (0) | ||
| 672-R | C-terminus | Prob. Benign (0) | ||
| 674-H | C-terminus | Prob. Benign (0) | ||
| 677-M | C-terminus | Prob. Benign (0) | ||
| 678-L | C-terminus | Arrhythmia (3) | ||
| 679-R | C-terminus | Prob. Benign (0) | ||
| 685-R | C-terminus | Arrhythmia (1) | ||
| 687-H | C-terminus | Arrhythmia (2) | 9 | CNGA1 - Retinitis pigmentosa CNGA3 - Colour-blindness, total CNGB3 - Macular degeneration, juvenile |
| 693-L | C-terminus | Arrhythmia (3) | 9 | CNGA3 - Achromatopsia |
| 694-R | C-terminus | Arrhythmia (1) | ||
| 696-R | C-terminus | Arrhythmia (5) | 9 | CNGA3 - Colour-blindness, total, Cone dystrophy CNGB1 - Retinitis pigmentosa |
| 698-E | C-terminus | Prob. Benign (0) | ||
| 699-E | C-terminus | Prob. Benign (0) | 9 | CNGA3 - Achromatopsia HCN4 - Sinus node disease |
| 704-A | C-terminus | Prob. Benign (0) | 9 | KCNH6 - Schizophrenia |
| 706-S | C-terminus | Arrhythmia (3) | ||
| 711-I | C-terminus | Arrhythmia (2) | ||
| 712-D | C-terminus | Arrhythmia (1) | ||
| 713-M | C-terminus | Prob. Benign (0) | 9 | HCN2 - Epilepsy, idiopathic generalised |
| 715-A | C-terminus | Arrhythmia (1) | ||
| 721-P | C-terminus | Arrhythmia (5) | ||
| 723-C | C-terminus | Prob. Benign (2) | ||
| 728-I | C-terminus | Arrhythmia (2) | ||
| 731-H | C-terminus | Arrhythmia (1) | 9 | CNGA3 - Colour-blindness, total |
| 732-L | C-terminus | Arrhythmia (1) | ||
| 734-R | C-terminus | Prob. Benign (0) | ||
| 735-S | C-terminus | Arrhythmia (2) | ||
| 737-L | C-terminus | Prob. Benign (0) | ||
| 739-H | C-terminus | None | ||
| 740-C | C-terminus | Prob. Benign (0) | ||
| 744-R | C-terminus | Arrhythmia (2) | ||
| 746-A | C-terminus | Prob. Benign (0) | ||
| 749-G | C-terminus | Arrhythmia (5) | ||
| 752-R | C-terminus | Arrhythmia (11) | ||
| 753-A | C-terminus | Arrhythmia (2) | ||
| 754-L | C-terminus | None | ||
| 755-A | C-terminus | None | ||
| 756-M | C-terminus | Other Cardiac (2) | ||
| 757-K | C-terminus | Arrhythmia (4) | ||
| 764-P | C-terminus | Arrhythmia (1) | ||
| 765-P | C-terminus | Prob. Benign (0) | 9 | CNGA3 - Cone-rod dystrophy |
| 767-D | C-terminus | Arrhythmia (2) | ||
| 770-V | C-terminus | Arrhythmia (2) | 9 | CNGA3 - Colour-blindness, total |
| 771-H | C-terminus | Arrhythmia (1) | ||
| 774-D | C-terminus | Arrhythmia (5) | 9 | CNGA3 - Achromatopsia |
| 776-L | C-terminus | Arrhythmia (1) | 9 | CNGA1 - Retinitis pigmentosa, autosomal recessive CNGA3 - Colour-blindness, total CNGB3 - Achromatopsia |
| 778-A | C-terminus | Prob. Benign (0) | ||
| 781-F | C-terminus | None | ||
| 783-S | C-terminus | Arrhythmia (1) | ||
| 784-R | C-terminus | Arrhythmia (6) | ||
| 785-G | C-terminus | Arrhythmia (4) | 9 | CNGA3 - Colour-blindness, total, Leber congenital amaurosis |
| 787-I | C-terminus | None | 9 | CNGA3 - Achromatopsia, Leber congenital amaurosis |
| 788-E | C-terminus | Arrhythmia (7) | ||
| 789-I | C-terminus | Arrhythmia (1) | 9 | CNGA3 - Colour-blindness, total |
| 791-R | C-terminus | Arrhythmia (4) | ||
| 793-D | C-terminus | Prob. Benign (0) | 7 | CNGA3 - Cone dystrophy |
| 794-V | C-terminus | Prob. Benign (0) | ||
| 795-V | C-terminus | Arrhythmia (1) | ||
| 796-V | C-terminus | Prob. Benign (0) | ||
| 797-A | C-terminus | None | ||
| 799-L | C-terminus | None | 7 | CNGA3 - Achromatopsia |
| 800-G | C-terminus | Arrhythmia (4) | ||
| 802-N | C-terminus | None | ||
| 805-F | C-terminus | Arrhythmia (9) | 9 | CNGA3 - Achromatopsia, Colour-blindness, total |
| 806-G | C-terminus | Arrhythmia (2) | 9 | CNGA3 - Achromatopsia |
| 815-P | C-terminus | Arrhythmia (1) | ||
| 816-G | C-terminus | Arrhythmia (1) | ||
| 818-S | C-terminus | Arrhythmia (9) | ||
| 820-G | C-terminus | Arrhythmia (5) | ||
| 822-V | C-terminus | Arrhythmia (9) | ||
| 823-R | C-terminus | Arrhythmia (8) | 9 | CNGA3 - Colour-blindness, total |
| 826-T | C-terminus | Arrhythmia (1) | ||
| 829-D | C-terminus | Prob. Benign (0) | ||
| 831-H | C-terminus | Arrhythmia (1) | ||
| 834-H | C-terminus | Prob. Benign (0) | ||
| 835-R | C-terminus | Arrhythmia (4) | ||
| 837-D | C-terminus | Arrhythmia (8) | ||
| 840-E | C-terminus | Prob. Benign (0) | ||
| 841-V | C-terminus | Arrhythmia (1) | ||
| 843-D | C-terminus | Prob. Benign (0) | ||
| 846-P | C-terminus | Arrhythmia (4) | ||
| 855-S | C-terminus | Arrhythmia (1) | ||
| 858-I | C-terminus | Arrhythmia (1) | ||
| 859-T | C-terminus | None | ||
| 861-N | C-terminus | Arrhythmia (7) | ||
| 864-D | C-terminus | Arrhythmia (1) | 3 | CNGB3 - Cone-rod dystrophy |
| 865-T | C-terminus | Arrhythmia (1) | ||
| 867-M | C-terminus | Prob. Benign (0) | ||
| 869-P | C-terminus | Prob. Benign (0) | ||
| 873-G | C-terminus | Arrhythmia (7) | ||
| 875-T | C-terminus | Prob. Benign (1) | ||
| 879-G | C-terminus | Arrhythmia (1) | ||
| 880-G | C-terminus | Arrhythmia (1) | ||
| 883-R | C-terminus | Arrhythmia (1) | ||
| 885-R | C-terminus | Arrhythmia (9) | ||
| 887-R | C-terminus | Arrhythmia (5) | ||
| 889-L | C-terminus | Prob. Benign (0) | ||
| 890-S | C-terminus | Arrhythmia (1) | ||
| 892-R | C-terminus | Other Cardiac (1) | ||
| 894-R | C-terminus | Arrhythmia (2) | ||
| 895-T | C-terminus | Arrhythmia (5) | ||
| 896-D | C-terminus | Prob. Benign (0) | ||
| 897-K | C-terminus | Conflict (16) | ||
| 903-G | C-terminus | Arrhythmia (1) | ||
| 904-E | C-terminus | None | ||
| 906-S | C-terminus | Arrhythmia (1) | ||
| 907-A | C-terminus | None | ||
| 910-P | C-terminus | Prob. Benign (2) | ||
| 912-R | C-terminus | Prob. Benign (0) | ||
| 913-A | C-terminus | Arrhythmia (6) | ||
| 915-A | C-terminus | Benign (2) | ||
| 917-P | C-terminus | Conflict (7) | ||
| 920-R | C-terminus | Arrhythmia (2) | ||
| 922-R | C-terminus | Arrhythmia (5) | ||
| 923-P | C-terminus | Prob. Benign (0) | ||
| 924-G | C-terminus | Arrhythmia (3) | ||
| 925-G | C-terminus | Arrhythmia (3) | ||
| 927-W | C-terminus | Arrhythmia (1) | ||
| 928-G | C-terminus | None | ||
| 930-S | C-terminus | None | ||
| 931-P | C-terminus | Prob. Benign (0) | ||
| 937-S | C-terminus | Arrhythmia (1) | ||
| 948-R | C-terminus | Arrhythmia (3) | ||
| 952-P | C-terminus | Prob. Benign (0) | ||
| 954-R | C-terminus | Other Cardiac (2) | ||
| 955-L | C-terminus | Arrhythmia (1) | ||
| 960-S | C-terminus | Arrhythmia (1) | ||
| 963-P | C-terminus | Arrhythmia (2) | ||
| 964-P | C-terminus | None | ||
| 965-G | C-terminus | Prob. Benign (1) | ||
| 966-E | C-terminus | Prob. Benign (0) | ||
| 967-P | C-terminus | Prob. Benign (2) | ||
| 968-P | C-terminus | Arrhythmia (4) | ||
| 971-E | C-terminus | Arrhythmia (1) | ||
| 972-P | C-terminus | Prob. Benign (0) | ||
| 977-C | C-terminus | Arrhythmia (1) | ||
| 978-E | C-terminus | Prob. Benign (1) | ||
| 979-K | C-terminus | Prob. Benign (0) | ||
| 981-S | C-terminus | Prob. Benign (2) | ||
| 982-D | C-terminus | Other Cardiac (1) | ||
| 983-T | C-terminus | Arrhythmia (3) | ||
| 985-N | C-terminus | Arrhythmia (1) | ||
| 988-S | C-terminus | Prob. Benign (0) | ||
| 989-G | C-terminus | Prob. Benign (0) | ||
| 990-A | C-terminus | Prob. Benign (0) | ||
| 996-N | C-terminus | Arrhythmia (5) | ||
| 1003-D | C-terminus | Arrhythmia (1) | ||
| 1004-S | C-terminus | Prob. Benign (0) | ||
| 1005-R | C-terminus | Arrhythmia (2) | ||
| 1007-R | C-terminus | Arrhythmia (3) | ||
| 1016-P | C-terminus | Prob. Benign (0) | ||
| 1017-A | C-terminus | Benign (0) | ||
| 1018-P | C-terminus | Prob. Benign (0) | ||
| 1020-P | C-terminus | Prob. Benign (0) | ||
| 1021-S | C-terminus | Prob. Benign (0) | ||
| 1026-P | C-terminus | Prob. Benign (0) | ||
| 1027-L | C-terminus | None | ||
| 1030-P | C-terminus | Prob. Benign (0) | ||
| 1032-R | C-terminus | Conflict (1) | ||
| 1033-R | C-terminus | Arrhythmia (3) | ||
| 1035-R | C-terminus | Prob. Benign (2) | ||
| 1036-G | C-terminus | Arrhythmia (5) | ||
| 1037-D | C-terminus | Prob. Benign (1) | ||
| 1038-V | C-terminus | Arrhythmia (1) | ||
| 1040-S | C-terminus | Other Cardiac (1) | ||
| 1042-L | C-terminus | None | ||
| 1043-D | C-terminus | Arrhythmia (1) | ||
| 1045-L | C-terminus | Arrhythmia (2) | ||
| 1047-R | C-terminus | Conflict (10) | ||
| 1049-L | C-terminus | Arrhythmia (2) | ||
| 1055-R | C-terminus | Prob. Benign (2) | ||
| 1057-S | C-terminus | Prob. Benign (0) | ||
| 1058-A | C-terminus | Prob. Benign (2) | ||
| 1059-D | C-terminus | Prob. Benign (0) | ||
| 1060-M | C-terminus | Prob. Benign (0) | ||
| 1062-T | C-terminus | Prob. Benign (0) | ||
| 1063-V | C-terminus | Prob. Benign (0) | ||
| 1066-L | C-terminus | Arrhythmia (4) | ||
| 1068-Q | C-terminus | Prob. Benign (2) | ||
| 1069-R | C-terminus | Prob. Benign (0) | 1 | HCN4 - Bradycardia, postpartum |
| 1071-M | C-terminus | Prob. Benign (0) | ||
| 1072-T | C-terminus | Prob. Benign (0) | ||
| 1075-P | C-terminus | Arrhythmia (2) | ||
| 1077-A | C-terminus | Prob. Benign (0) | ||
| 1078-Y | C-terminus | Arrhythmia (2) | ||
| 1079-S | C-terminus | Prob. Benign (0) | ||
| 1083-T | C-terminus | Prob. Benign (0) | ||
| 1084-P | C-terminus | Prob. Benign (0) | ||
| 1087-G | C-terminus | Prob. Benign (0) | ||
| 1090-S | C-terminus | Prob. Benign (0) | ||
| 1092-S | C-terminus | Prob. Benign (0) | ||
| 1093-P | C-terminus | Arrhythmia (3) | ||
| 1094-L | C-terminus | Prob. Benign (0) | ||
| 1097-V | C-terminus | Prob. Benign (1) | ||
| 1098-S | C-terminus | Prob. Benign (0) | ||
| 1100-L | C-terminus | Prob. Benign (0) | ||
| 1101-P | C-terminus | Arrhythmia (1) | ||
| 1102-T | C-terminus | Prob. Benign (0) | ||
| 1103-L | C-terminus | Prob. Benign (0) | ||
| 1104-T | C-terminus | Prob. Benign (0) | ||
| 1105-L | C-terminus | Prob. Benign (0) | ||
| 1108-L | C-terminus | Prob. Benign (1) | ||
| 1110-Q | C-terminus | Prob. Benign (0) | ||
| 1115-M | C-terminus | Arrhythmia (1) | ||
| 1116-A | C-terminus | Arrhythmia (2) | ||
| 1117-C | C-terminus | None | ||
| 1119-E | C-terminus | Prob. Benign (1) | ||
| 1122-P | C-terminus | Arrhythmia (1) | ||
| 1123-G | C-terminus | Prob. Benign (0) | ||
| 1126-E | C-terminus | Prob. Benign (0) | ||
| 1131-G | C-terminus | Prob. Benign (0) | ||
| 1132-P | C-terminus | Arrhythmia (1) | ||
| 1135-R | C-terminus | Arrhythmia (2) | ||
| 1139-P | C-terminus | None | ||
| 1144-A | C-terminus | Arrhythmia (1) | ||
| 1146-T | C-terminus | Arrhythmia (1) | ||
| 1150-L | C-terminus | Prob. Benign (0) | 2 | CNGB3 - Cone-rod dystrophy |
| 1151-H | C-terminus | Prob. Benign (0) | ||
| 1153-H | C-terminus | Arrhythmia (2) | 2 | HCN1 - Idiopathic epilepsy, generalised ? |
| 1154-G | C-terminus | Prob. Benign (1) |