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.



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.

ResidueDomainKnown Variant Status ConsensusMapped 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 None1 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 None9 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 None9 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 None7 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)