Gene Variant Search – SCN8A Interactive Website

Look Up a Gene Variant

If you are a family or physician with results from a genetic test, enter the “c.” or “p.” letters and numbers below to see if your child’s variant has been found before.

Alternatively, enter just the number of the cDNA position, or just the number of the amino acid position in the appropriate box.

If your variant does not show up in the search please email us at scn8a.info@gmail.com

Please do not download or mine the mutation data without asking for permission at scn8a.info@gmail.com to assure that the data are shared in a IRB-compliant manner and that all families of patients with mutations have given proper consent prior to releasing data.

cds_position	amino_acid_change_3_letter	amino_acid_1_letter	protein_domain	reference
-8 A>G	NA	Non-coding 5'UTR	5' UTR	Johannesen (2021)
c.35G>A	p.Gly12Asn	p.G12N	Cytoplasmic N-terminus	Decipher
c.82C>T	p.Arg28Cys	p.R28C	Cytoplasmic N-terminus	unpub.
c.83G>A	p.Arg28His	p.R28H	Cytoplasmic N-terminus	unpub.
c.91G>A	p.Val31Ile	p.V31I	Cytoplasmic N-terminus	Decipher
c.134G>A	p.Arg45Gln	p.R45Q	Cytoplasmic N-terminus	Encinas (2020)
c.142G>A	p.Asp48Asn	p.D48N	Cytoplasmic N-terminus	unpub.
c.149A>G	p.Asp50Gly	p.D50G	Cytoplasmic N-terminus	unpub.
c.172G>A	p.Asp58Asn	p.D58N	Cytoplasmic N-terminus	Blanchard (2015)
c.173 A>T	p.Asp58Val	p.D58V	Cytoplasmic N-terminus	Encinas (2020); Johannesen (2021)
c.260A>G	p.Tyr87Cys	p.Y87C	Cytoplasmic N-terminus	unpub.
c.272A>C	p.Gln91Pro	p.Q91P	Cytoplasmic N-terminus	unpub
c.302A>G	p.Lys101Arg	p.K101R	Cytoplasmic N-terminus	Butler (2017); Encinas (2020)
c.394T>C	p.Ser132Pro	p.S132P	DIS1	unpub.
c.406A>G	p.Met136Val	p.M136V	DIS1	Tanaka (2017)
c.411C>G	p.Ile137Met	p.I137M	DIS1	Johannesen (2019)
c.415A>C	p.Met139Leu	p.M139L	DIS1	unpub.
c.415A>T	p.Met139Leu	p.M139L	DIS1	Xin (2024)
c.517G>A	p.Met139Ile	p.M139I	DIS1	Johannesen (2021)
c.424A>G	p.Ile142Val	p.I142V	DIS1	Ko (2018); Kim (2019); Denis (2019); Encinas (2020);Johannesen (2021)
c.424A>G	p.Ile142Val	p.I142V	DIS1	Johannesen (2021)
c.424A>G	p.Ile142Val	p.I142V	DIS1	Johannesen (2021)
c.424A>G	p.Ile142Val	p.I142V	DIS1	unpub.
c.424A>G	p.Ile142Val	p.I142V	DIS1	Hu (2021)
c.497C>T	p.Thr166Ile	p.T166I	DIS2	Encinas (2020)
c.497C>T	p.Thr166Ile	p.T166I	DIS2	Encinas (2020)
c.571C>T	p.Arg191Trp	p.R191W	Extracellular DI(S2-S3)	Lyu et al. (2023)
c.571C>T	p.Arg191Trp	p.R191W	Extracellular DI(S2-S3)	Lyu et al. (2023)
c.599G>A	p.Ser200Asn	p.S200N	DIS3	Decipher; Encinas (2020)
c.614C>A	p.Ala205Glu	p.A205E	DIS3	unpub.
c.614C>A	p.Ala205Glu	p.A205E	DIS3	Johannesen (2021)
c.614C>A	p.Ala205Glu	p.A205E	DIS3	Johannesen (2021)
c.628T>C	p.Phe210Leu	p.F210L	DIS3	Mercimek-Mahmutoglu (2015); Encinas (2020)
c.631 G>A	p.Val211Met	p.V211M	DIS3	Johannesen (2021)
c.631 G>A	p.Val211Met	p.V211M	DIS3	Hu (2021)
c.631 G>C	p.Val211Leu	p.V211L	DIS3	Johannesen (2021)
c.631 G>C	p.Val211Leu	p.V211L	DIS3	Johannesen (2021)
c.632T>C	p.Val211Ala	p.V211A	DIS3	Encinas (2020)
c.632T>C	p.Val211Ala	p.V211A	DIS3	Johannesen (2021)
c.632T>G	p.Val211Gly	p.V211G	DIS3	unpub.
c.632T>G	p.Val211Gly	p.V211G	DIS3	unpub.
c.638T>C	p.Leu213Pro	p.L213P	Extracellular DI(S3-S4)	Denis (2019)
c.638T>C	p.Leu213Pro	p.L213P	Extracellular DI(S3-S4)	Unpub.
c.638T>C	p.Leu213Pro	p.L213P	Extracellular DI(S3-S4)	Unpub.
		213	Extracellular DI(S3-S4)	unpub.
c.641G>A	p.Gly214Asp	p.G214D	Extracellular DI(S3-S4)	Epi4K (2013)
c.641G>A	p.Gly214Asp	p.G214D	Extracellular DI(S3-S4)	Encinas (2020)
c.641G>A	p.Gly214Asp	p.G214D	Extracellular DI(S3-S4)	Hu (2021)
c.641G>A	p.Gly214Asp	p.G214D	Extracellular DI(S3-S4)	unpub.
c.641G>A	p.Gly214Asp	p.G214D	Extracellular DI(S3-S4)	unpub.
c.641G>A	p.Gly214Asp	p.G214D	Extracellular DI(S3-S4)	Hu (2021)
c.641G>A	p.Gly214Asp	p.G214D	Extracellular DI(S3-S4)	Hu (2021)
c.641G>A	p.Gly214Asp	p.G214D	Extracellular DI(S3-S4)	unpub.
c.641G>A	p.Gly214Asp	p.G214D	Extracellular DI(S3-S4)	Encinas (2020)
c.643A>G	p.Asn215Asp	p.N215D	Extracellular DI(S3-S4)	Larsen (2015)
c.643A>G	p.Asn215Asp	p.N215D	Extracellular DI(S3-S4)	Encinas (2020)
c.643A>G	p.Asn215Asp	p.N215D	Extracellular DI(S3-S4)	Decipher (2014)
c.647T>A	p.Val216Asp	p.V216D	Extracellular DI(S3-S4)	Ohba (2014); Encinas (2020)
c.647T>G	p.Val216Gly	p.V216G	Extracellular DI(S3-S4)	unpub.
c.647T>A	p.Val216Asp	p.V216D	Extracellular DI(S3-S4)	Ohba et al (2014)
c.649T>C	p.Ser217Pro	p.S217P	Extracellular DI(S3-S4)	unpub.
c.652G>C	p.Ala218Pro	p.A218P	Voltage sensing DIS4	unpub.
c.655C>G	p.Leu219Val	p.L219V	Voltage sensing DIS4	unpub.
c.656T>C	p.Leu219Pro	p.L219P	Voltage sensing DIS4	Hu (2021)
c.659G>A	p.Arg220His	p.R220H	Voltage sensing DIS4	Johannesen (2021)
c.665T>C	p.Phe222Ser	p.F222S	Voltage sensing DIS4	Johannesen (2021)
c.667A>G	p.Arg223Gly	p.R223G	Voltage sensing DIS4	De Kovel (2014)
c.667A>G	p.Arg223Gly	p.R223G	Voltage sensing DIS4	Encinas (2020)
c.667A>G	p.Arg223Gly	p.R223G	Voltage sensing DIS4	Denis (2019)
c.667A>G	p.Arg223Gly	p.R223G	Voltage sensing DIS4	Denis (2019)
c.667A>G	p.Arg223Gly	p.R223G	Voltage sensing DIS4	Epilepsy Genetics Initiative
c.669G>C	p.Arg223Ser	p.R223S	Voltage sensing DIS4	Encinas (2020)
c.669G>C	p.Arg223Ser	p.R223S	Voltage sensing DIS4	unpub.
c.669G>C	p.Arg223Ser	p.R223S	Voltage sensing DIS4	unpub.
c.669G>C	p.Arg223Ser	p.R223S	Voltage sensing DIS4	Encinas (2020)
c.668G>C	p.Arg223Thr	p.R223T	Voltage sensing DIS4	unpub.
c.676A>G	p.Arg226Gly	p.R226G	Voltage sensing DIS4	Hu (2021)
c.692T>C	p.Ile231Thr	p.I231T	Voltage Sensing DIS4	inpub./Epilepsy Genetics Initiative (2017)
c.692T>C	p.Ile231Thr	p.I231T	Voltage sensing DIS4	Epilepsy Genetics Initiative
c.694T>C	p.Ser232Pro	p.S232P	Voltage sensing DIS4	Zhang (2017)/Wang (2017)
c.697G>C	p.Val233Leu	p.V233L	Voltage sensing DIS4	unpub.
c.697G>C	p.Val233Leu	p.V233L	Voltage sensing DIS4	unpub.
c.697G>A	p.Val233Leu	p.V233L	Voltage sensing DIS4	unpub.
c.697G>A	p.Val233Ile	p.V233I	Voltage sensing DIS4	Encinas (2020)
c.697G>A	p.Val233Ile	p.V233I	Voltage sensing DIS4	Braakman (2017)
c.697G>A	p.Val233Ile	p.V233I	Voltage sensing DIS4	Braakman (2017)
c.715A>G	p.Thr239Ala	p.T239A	Cytoplasmic DI(S4-S5)	Encinas (2020)
c.715A>G	p.Thr239Ala	p.T239A	Cytoplasmic DI(S4-S5)	Encinas (2020)
c.715A>T	p.Thr239Ser	p.T239S	Cytoplasmic DI(S4-S5)	Moller (2016)
c.718A>C	p.Ile240Leu	p.I240L	Cytoplasmic DI(S4-S5)	Encinas (2020)
c.719T>A	p.Ile240Asn	p.I240N	Cytoplasmic DI(S4-S5)	unpub.
c.718A>G	p.Ile240Val	p.I240V	Cytoplasmic DI(S4-S5)	McNally (2016); Encinas (2020)
c.719T>C	p.Ile240Thr	p.I240T	Cytoplasmic DI(S4-S5)	unpub.
c.719 T>C	p.Ile240Thr	p.I240T	Cytoplasmic DI(S4-S5)	Johannesen (2021)
c.727G>C	p.Ala243Pro	p.A243P	Cytoplasmic DI(S4-S5)	unpub.
c.760G>A	p.Val254Met	p.V254M	DIS5	unpub.
c.769C>G	p.Leu257Val	p.L257V	DIS5	Encinas (2020)
c.773C>T	p.Thr258Ile	p.T258I	DIS5	Hebbar (2024)
c.778T>G	p.Phe260Val	p.F260V	DIS5	Kim (2023)
c.779T>C	p.Phe260Ser	p.F260S	DIS5	Larsen (2015) ; Encinas (2020)
c.779T>C	p.Phe260Ser	p.F260S	DIS5	Boerma (2016)
c.782G>T	p.Cys261Phe	p.C261F	DIS5	Ko (2018); Kim (2019); Encinas (2020)
c.782G>T	p.Cys261Phe	p.C261F	DIS5	Johannesen (2021)
c.785T>C	p.Leu262Pro	p.L262P	DIS5	unpub.
c.799T>C	p.Leu267Ser	p.L267S	DIS5	Encinas (2020)
c.800T>C	p.Leu267Ser	p.L267S	DIS5	unpub.
c.800T>C	p.Leu267Ser	p.L267S	DIS5	Ostrander (2018; Macolmson (2016); Encinas (2020)
c.800T>C	p.Leu267Ser	p.L267S	DIS5	Johannesen (2021)
c.800T>C	p.Leu267Ser	p.L267S	DIS5	Decipher
c.799T>G	p.Leu267Val	p.L267V	DIS5	Denis (2019)
c.802A>C	p.Ile268Leu	p.I268L	DIS5	Encinas (2020)
c.802A>C	p.Ile268Leu	p.I268L	DIS5	Medlin 2020
c.813G>T	p.Gln271His	p.Q271H	DIS5	unpub.
c.811C>T	p.Gln271*	p.Q271*	DIS5	unpub.
c.884A>C	p.Asn295Thr	p.N295T	Extracellular pore loop DI(S5-S6)	unpub.
		p.A314D		Unpub.
c.950G>C	p.Gly317Ala	p.G317A	Extracellular pore loop DI(S5-S6)	Denis (2019)
c.971G>A	p.Cys324Tyr	p.C324Y	Extracellular pore loop DI(S5-S6)	Hebbar (2024)
c.971G>A	p.Cys324Tyr	p.C324Y	Extracellular pore loop DI(S5-S6)	unpub.
c.971G>C	p.Cys324Tyr	p.C324Y	Extracellular pore loop DI(S5-S6)	Encinas (2020)
c.972T>G	p.Cys324Trp	p.C324W	Extracellular pore loop DI(S5-S6)	unpub.
c.985G>A	p.Asp329Asn	p.D329N	Extracellular pore loop DI(S5-S6)	Butler (2017)
c.986A>G	p.Asp329Gly	p.D329G	Extracellular pore loop DI(S5-S6)	Hebbar (2024)
c.992G>A	p.Gly331Glu	p.G331E	Extracellular pore loop DI(S5-S6)	unpub.
c.1041C>G	p.Asn347Lys	p.N347K	Extracellular pore loop DI(S5-S6)	unpub.
c.1078_79delinsGC	p.Phe360Ala	p.F360A	Extracellular pore loop DI(S5-S6)	unpub.
c.1099A>G	p.Met367Val	p.M367V	Extracellular pore loop DI(S5-S6)	Encinas (2020)
c.1099A>G	p.Met367Val	p.M367V	Extracellular pore loop DI(S5-S6)	Johannesen (2021)
c.1099A>G	p.Met367Val	p.M367V	Extracellular pore loop DI(S5-S6)	Encinas (2020)
c.1099A>G	p.Met367Val	p.M367V	Extracellular pore loop DI(S5-S6)	Hu (2021)
c.1100 T>C	p.Met367Thr	p.M367T	Exracellular pore loop DI(S5-S6)	Johannesen (2021)
c.1103C>T	p.Thr368Ile	p.T368I	Extracellular pore loop DI(S5-S6)	Hu (2021)
c.1103C>T	p.Thr368Ile	p.T368I	Extracellular pore loop DI(S5-S6)	Innes (2024)
c.1105C>G	p.Gln369Glu	p.Q369E	Extracellular pore loop DI(S5-S6)	unpub.
c.1122C>A	p.Asn374Lys	p.N374K	Extracellular pore loop DI(S5-S6)	Johannesen (2019)
c.1122C>G	p.Asn374Lys	p.N374K	Extracellular pore loop DI(S5-S6)	unpub.
c.1122C>G	p.Asn374Lys	p.N374K	Extracellular pore loop DI(S5-S6)	Johannesen (2021)
c.1141C>T	p.Arg381*	p.R381*	Extracellular pore loop DI(S5-S6)	Johannesen (2021)
c.1142G>A	p.Arg381Gln	p.R381Q	Extracellular pore loop DI(S5-S6)	Encinas (2020)
c.1150G>A	p.Gly384Arg	p.G384R	Extracellular pore loop DI(S5-S6)	Decipher
c.1157C>G	p.Thr386Arg	p.T386R	Extracellular pore loop DI(S5-S6)	Encinas (2020)
c.1157C>G	p.Thr386Arg	p.T386R	Extracellular pore loop DI(S5-S6)	Johannesen (2021)
c.1157C>A	p.Thr386Lys	p.T386K	Extracellular pore loop DI(S5-S6)	Johannesen (2021)
c.1195T>C	p.Ser399Pro	p.S399P	DIS6	Encinas (2020)
	p.Phe400Ile	p.F400I
c.1201T>C	p.Tyr401His	p.Y401H	DIS6	unpub. (Gardella 2018?)
c.1207G>A	p.Val403Met	p.V403M	DIS6	unpub.
c.1213T>A	p.Leu405Met	p.L405M	DIS6	Denis (2019)
c.1219T>G	p.Leu407Val	p.L407V	DIS6	unpub.	.
c.1219T>G	p.Leu407Val	p.L407V	DIS6	Ostrander 2018
c.1221G>C	p.Leu407Phe	p.L407F	DIS6	Kong (2015); Encinas (2020)
c.1222G>A	p.Ala408Thr	p.A408T	DIS6	Denis (2019); Encinas (2020)
c.1222G>A	p.Ala408Thr	p.A408T	DIS6	Trump (2016)
c.1222G>A	p.Ala408Thr	p.A408T	DIS6	Hu (2021)
c.1222G>C	p.Ala408Pro	p.A408P	DIS6	unpub.
c.1223C>T	p.Ala408Val	p.A408V	DIS6	unpub.
c.1225 G>A	p.Val409Met	p.V409M	DIS6	Johannesen (2021)
c.1226T>C	p.Val409Ala	p.V409A	DIS6	Hu (2021)
c.1228G>C	p.Val410Leu	p.V410L	DIS6	Larsen (2015)/Gardella (2018)
c.1228G>C	p.Val410Leu	p.V410L	DIS6	Encinas (2020)
c.1228G>C	p.Val410Leu	p.V410L	DIS6	unpub.
c.1238C>A	p.Ala413Asp	p.A413D	DIS6	unpub.
c.1241A>G	1	p.Y414C	Cytoplasmic DIS6-DIIS1	unpub.
c.1243G>A	p.Glu415Lys	p.E415K	Cytoplasmic DIS6-DIIS1	Hu (2021)
c.1244A>G	p.Glu415Gly	p.E415G	Cytoplasmic DIS6-DIIS1	Encinas (2020)
c.1246G>A	p.Glu416Lys	p.E416K	Cytoplasmic DIS6-DIIS1	Decipher (2014)
c.1246G>A	p.Glu416Lys	p.E416K	Cytoplasmic DIS6-DIIS2	Encinas (2020)
c.1250A>C	p.Gln417Pro	p.Q417P	Cytoplasmic DIS6-DIIS1	Encinas (2020)
c.1262C>A	p.Thr421Lys	p.T421K	Cytoplasmic DIS6-DIIS1	unpub.
c.1396G>C	p.Glu466Gln	p.E466Q	Cytoplasmic DIS6-DIIS1	unpub.
c.1415G>C	p.Gly472Ala	p.G472A	Cytoplasmic DIS6-DIIS1	unpub.
c.1519G>C	p.Glu507Gln	p.E507Q	Cytoplasmic DIS6-DIIS1	unpub.
c.1588C>T	p.Arg530Trp	p.R530W	Cytoplasmic DIS6-DIIS1	Olson (2015)
c.1588C>T	p.Arg530Trp	p.R530W	Cytoplasmic DIS6-DIIS1	Encinas (2020)
c.1589G>A	p.Arg530Gln	p.R530Q	Cytoplasmic DIS6-DIIS1	Encinas (2020)
c.1759G>T	p.Glu587*	p.E587*	Cytoplasmic DIS6-DIIS1	unpub.
c.1790G>A	p.Arg597His	p.R597H	Cytoplasmic DIS6-DIIS1	unpub.
c.1792C>T	p.Arg598Trp	p.R598W	Cytoplasmic DIS6-DIIS1	Encinas (2020)
c.1816C>T	p.Arg606Trp	p.R606W	Cytoplasmic DIS6-DIIS1	unpub.
c.1819G>A	p.Ala607Thr	p.A607T	Cytoplasmic DIS6-DIIS1	Encinas (2020)
c.1837A>G	p.Ser613Gly	p.S613G	Cytoplasmic DIS6-DIIS1	unpub.
c.1925C>T	p.Thr642Met	p.T642M	Cytoplasmic DIS6-DIIS1	unpub.
c.1984C>T	p.Arg662Cys	p.R662C	Cytoplasmic DIS6-DIIS1	Carvill (2013); Encinas (2020)
c.2074G>A	p.Gly692Arg	p.G692R	Cytoplasmic DIS6-DIIS1	Encinas (2020)
c.2077C>T	p.Arg693Trp	p.R693W	Cytoplasmic DIS6-DIIS1	unpub.
		p.L731F
c.2191C>A	p.Leu731Ile	p.L731I	Cytoplasmic DIS6-DIIS1	unpub.
c.2287A>G	p.Ile763Val	p.I763V	DIIS1	Encinas (2020)
c.2287A>G	p.Ile763Val	p.I763V	DIIS1	Johannesen (2021)
c.2287A>G	p.Ile763Val	p.I763V	DIIS1	Johannesen (2021)
c.2287A>G	p.Ile763Val	p.I763V	DIIS1	Butler (2017)
c.2287A>G	p.Ile763Val	p.I763V	DIIS1	Encinas (2020)
c.2287A>G	p.Ile763Val	p.I763V	DIIS1	unpub.
c.2287A>G	p.Ile763Val	p.I763V	DIIS1	unpub.
c.2300C>T	p.Thr767Ile	p.T767I	DIIS1	Estacion (2014)
c.2300C>T	p.Thr767Ile	p.T767I	DIIS1	Johannesen (2021)
c.2300C>T	p.Thr767Ile	p.T767I	DIIS1	Encinas (2020)
c.2300C>T	p.Thr767Ile	p.T767I	DIIS1	unpub.
c.2300C>T	p.Thr767Ile	p.T767I	DIIS1	unpub.
c.2300C>T	p.Thr767Ile	p.T767I	DIIS1	Gardella (2018)
c.2371G>T	p. Val791Phe	p.V791F	DIIS2	Xie (2019)
c.2413A>G	p.Ile805Val	p.I805V	DIIS2	Hu (2021)
c.2415A>G	p.Ile805Met	p.I805M	DIIS2	Butler (2017); Encinas (2020)
c.2464G>A	p.Gly822Arg	pG822R	DIIS3	unpub.
c.2464G>A	p.Gly822Arg	pG822R	DIIS3	unpub.
c.2464G>A	p.Gly822Arg	pG822R	DIIS3	unpub.
c.2518C>T	p.Leu840Phe	p.L840F	Extracellular DII(S3-S4)	Encinas (2020)
c.2518C>T	p.Leu840Phe	p.L840F	Extracellular DII(S3-S4)	unpub.
c.2519T>C	p.Leu840Pro	p.L840P	Extracellular DII(S3-S4)	Encinas (2020); Johannesen (2021)
c.2525T>A	p.Val842Glu	p.V842E	Voltage sensing DIIS4	Lindy (2018)
c.2525T>A	p.Val842Glu	p.V842E	Voltage sensing DIIS4	Johannesen (2021)
	p.Leu843Pro	p.V842Q		unpub.
c.2528T>C		p.L843P	Voltage sensing DIIS4	unpub.
c.2531G>A	p.Arg844Gln	p.R844Q	Voltage sensing DIIS4	unpub.
c.2534C>T	p.Ser845Phe	p.S845F	Voltage sensing DIIS4	Encinas (2020)
c.2534C>T	p.Ser845Phe	p.S845F	Voltage sensing DIIS4	unpub.
c.2533T>C	p.Ser845Pro	p.S845P	Voltage sensing DIIS4	Encinas (2020)
c.2537T>C	p.Phe846Ser	p.F846S	Voltage sensing DIIS4	Ohba (2014); Encinas (2020)
c.2537T>C	p.Phe846Ser	p.F846S	Voltage sensing DIIS4	Johannesen (2021)
c.2537T>C	p.Phe846Ser	p.F846S	Voltage sensing DIIS4	Johannesen (2021)
c.2540G>C	p.Arg847Pro	p.R847P	Voltage sensing DIIS4	unpub.
c.2540G>C	p.Arg847Pro	p.R847P	Voltage sensing DIIS4	Lyu et al. (2023)
c.2540G>A	p.Arg847Gln	p.R847Q	Voltage sensing DIIS4	Laliberte (2023)
c.2543T>C	p.Leu848Ser	p.L848S	Voltage sensing DIIS4	unpub.
c.2543T>G	p.Leu848Trp	p.L848W	Voltage sensing DIIS4	unpub.
c.2543T>G	p.Leu848Trp	p.L848W	Voltage sensing DIIS4	unpub.
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Kong (2015)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Ko (2018); Kim (2019)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Encinas (2020)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Encinas (2020)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Encinas (2020)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Encinas (2020)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Encinas (2020)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Zhang (2017)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	unpub.
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Encinas (2020)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Encinas (2020)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Encinas (2020)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Encinas (2020)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Encinas (2020)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	unpub.
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	unpub.
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	unpub.
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	unpub.
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	unpub.
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Kim (2023)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Hu (2021)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Hu (2021)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Johannesen (2021)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Johannesen (2021)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Johannesen (2021)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Kong (2015), Zhang (2017), Ko (2018; Encinas (2020)
c.2549G>A	p.Arg850Gln	p.R850Q	Voltage sensing DIIS4	Kong (201)5, Zhang (2017), Ko (2018); Encinas (2020)
c.2549G>C	p.Arg850Pro	p.R850P	Voltage sensing DIIS4	unpub.
c.2548C>G	p.Arg850Gly	p.R850G	Voltage sensing DIIS4	Johannesen (2021)
c.2548C>G	p.Arg850Gly	p.R850G	Voltage sensing DIIS4	Tsand
c.2549G>T	p.Arg850Leu	p.R850L	Voltage sensing DIIS4	Gardella (2018)
c.2548C>T	p.Arg850*	p.R850*	Voltage sensing DIIS4	unpub
c.2566A>G	p.Lys856Glu	p.K856E	Voltage sensing DIIS4	Johannesen (2021)
c.2572T>G	p.Trp858Gly	p.W858G	Voltage sensing DIIS4	unpub.
c.2575C>T	p.Pro859Ser	p.P859S	Voltage sensing DIIS4	unpub.
c.2586C>A	p.Asn862Lys	p.N862K	Voltage sensing DIIS4	Hu (2021)
c.2590C>G	p.Leu864Val	p.L864V	Cytoplasmic DII(S4-S5)	Gardella (2018)
c.2603C>T	p.Ile868Thr	p.I868T	Cytoplasmic DII(S4-S5)	Encinas (2020)
c.2603C>T	p.Ile868Thr	p.I868T	Cytoplasmic DII(S4-S5)	unpub.
c.2617G>T	p.Gly873Cys	p.G873C	Cytoplasmic DII(S4-S5)	unpub.
c.2620G>A	p.Ala874Thr	p.A874T	Cytoplasmic DII(S4-S5)	Encinas (2020)
c.2620G>A	p.Ala874Thr	p.A874T	Cytoplasmic DII(S4-S5)	unpub
c.2620G>A	p.Ala874Thr	p.A874T	Cytoplasmic DII(S4-S5)	unpub
c.2620G>A	p.Ala874Thr	p.A874T	Cytoplasmic DII(S4-S5)	Encinas (2020)
c.2620G>A	p.Ala874Thr	p.A874T	Cytoplasmic DII(S4-S5)	Encinas (2020)
c.2620G>A	p.Ala874Thr	p.A874T	Cytoplasmic DII(S4-S5)	unpub.
c.2620G>A	p.Ala874Thr	p.A874T	Cytoplasmic DII(S4-S5)	johannesen (2021)
c.2620G>T	p.Ala874Ser	p.A874S	Cytoplasmic DII(S4-S5)	Hu (2021)
c.2620G>T	p.Ala874Ser	p.A874S	Cytoplasmic DII(S4-S5)	unpub.
c.2624T>A	p.Leu875Gln	p.L875Q	Cytoplasmic DII(S4-S5)	Epi4K (2013); Encinas (2020)
c.2627G>A	p.Gly876Asp	p.G876D	Cytoplasmic DII(S4-S5)	unpub.
c.2641G>C	p.Val881Leu	p.V881L	DIIS5	unpub.
c.2641G>T	p.Val881Leu	p.V881L	DIIS5	Hu (2021)
c.2642T>C	p.Val881Ala	p.V881A	DIIS5	Encinas (2020)
c.2642T>C	p.Val881Ala	p.V881A	DIIS5	Encinas (2020)
c.2642T>C	p.Val881Ala	p.V881A	DIIS5	Ostrander (2018)
c.2654T>C	p.Ile885Thr	p.I885T	DIIS5	unpub.
c.2668G>A	p.Ala890Thr	p.A890T	DIIS5	Larsen (2015)
c.2668G>A	p.Ala890Thr	p.A890T	DIIS5	Kong (2015)
c.2668G>A	p.Ala890Thr	p.A890T	DIIS5	Encinas (2020)
c.2668G>C	p.Ala890Pro	p.A890P	DIIS5	Johannesen (2021)
c.2671G>A	p.Val891Met	p.V891M	DIIS5	Encinas (2020)
c.2671G>A	p.Val891Met	p.V891M	DIIS5	unpub.
c.2671G>A	p.Val891Met	p.V891M	DIIS5	Podkorytova (2022)
c.2671G>A	p.Val891Met	p.V891M	DIIS5	Wang (2017)
c.2675T>C	p.Val892Ala	p.V892A	DIIS5	unpub.
c.2675T>C	p.Val892Ala	p.V892A	DIIS5	Keshri (2021)
c.2675T>C	p.Val892Ala	p.V892A	DIIS5	unpub
c.2674G>A	p.Val892Met	p.V892M	DIIS5	Johannesen (2021)
c.2675T>G	p.Val892Gly	p.V892G	DIIS5	Johannesen (2021)
c.2674G>C	p.Val892Leu	p.V892L	DIIS5	unpub.
c.2764T>C	p.Phe922Leu	p.F922L	Extracellular pore loop DII(S5-S6)	unpub.
c.2765T>C	p.Phe922Ser	p.F922S	Extracellular pore loop DII(S5-S6)	unpub.
c.2765T>G	p.Phe922Cys	p.F922C	Extracellular pore loop DII(S5-S6)	unpub.
c.2792G>A	p.Arg931Gln	p.R931Q	Extracellular pore loop DII(S5-S6)	Johannesen (2021)
c.2792G>A	p.Arg931Gln	p.R931Q	Extracellular pore loop DII(S5-S6)	Johannesen (2021)
c.2792G>A	p.Arg931Gln	p.R931Q	Extracellular pore loop DII(S5-S6)	Johannesen (2021)
c.2791C>T	p.Arg931*	p.R931*	Extracellular pore loop DII(S5-S6)	Decipher patient 305677
c.2799G>C	p.Leu933Phe	p.L933F	Extracellular pore loop DII(S5-S6)	unpub.
c.2806G>A	p.Glu936Lys	p.E936K	Extracellular pore loop DII(S5-S6)	unpub.
c.2806G>A	p.Glu936Lys	p.E936K	Extracellular pore loop DII(S5-S6)	Mangano (2021)
c.2810G>A	p.Trp937*	p.W937*	Extracellular pore loop DII(S5-S6)	Lyu et al. (2023)
c.2879T>A	p.Val960Asp	p.V960D	DIIS6	Larsen (2015); Encinas (2020)
c.2879T>A	p.Val960Asp	p.V960D	DIIS6	hu (2021)
c.2890G>C	p.Gly964Arg	p.G964R	DIIS6	unpub.
c.2890G>C	p.Gly964Arg	p.G964R	DIIS6	Wagnon (2017); Encinas (2020)
c.2890G>T	p.Gly964Cys	p.G964C	DIIS6	unpub.
c.2905C>A	p.Leu969Met	p.L969M	DIIS6	Encinas (2020)
c.2905C>A	p.Leu969Met	p.L969M	DIIS6	unpub.
c.2911C>G	p.Leu971Val	p.L971V	DIIS6	Kim (2019)
c.2921C>A	p.Ala974Asp	p.A974D	DIIS6	unpub
c.2930T>C	p.Leu977Pro	p.L977P	DIIS6	unpub.	.
c.2930T>C	p.Leu977Pro	p.L977P	DIIS6	hu (2021)	.
c.2932A>G	p.Ser978Gly	p.S978G	Cytoplasmic DIIS6-DIIIS1	Encinas (2020)	.
c.2932A>G	p.Ser978Gly	p.S978G	Cytoplasmic DIIS6-DIIIS1	Parrini (2016)/Gardella (2018)
c.2934C>A	p.Ser978Arg	p.S978R	Cytoplasmic DIIS6-DIIIS1	Kim (2019)
c.2936C>T	p.Ser979Phe	p.S979F	Cytoplasmic DIIS6-DIIIS1	Encinas (2020)
c.2942G>T	p.Ser981Ile	p.S981I	Cytoplasmic DIIS6-DIIIS1	unpub.
c.2942G>C	p.Ser981Thr	p.S981T	Cytoplasmic DIIS6-DIIIS1	unpub.
c.2942G>C	p.Ser981Thr	p.S981T	Cytoplasmic DIIS6-DIIIS1	hu (2021)
c.2942G>C	p.Ser981Thr	p.S981T	Cytoplasmic DIIS6-DIIIS1	unpub
c.2945C>T	p.Ala982Val	p.A982V	Cytoplasmic DIIS6-DIIIS1	Fang et al (2023)
c.2949C>G	p.Asp983Glu	p.D983E	Cytoplasmic DIIS6-DIIIS1	unpub.
c.2951A>T	p.Asn984Ile	p.N984I	Cytoplasmic DIIS6-DIIIS1	unpub.
c.2952C>G	p.Asn984Lys	p.N984K	Cytoplasmic DIIS6-DIIIS1	Blanchard (2015); Encinas (2020)
c.2952C>A	p.Asn984Lys	p.N984K	Cytoplasmic DIIS6-DIIIS1	Johannesen (2021)
c.2952C>G	p.Asn984Lys	p.N984K	Cytoplasmic DIIS6-DIIIS1	Johannesen (2021)
c.2952C>G	p.Asn984Lys	p.N984K	Cytoplasmic DIIS6-DIIIS1	Johannesen (2021)
c.2952C>G	p.Asn984Lys	p.N984K	Cytoplasmic DIIS6-DIIIS1	Hu (2021)
c.2952C>G	p.Asn984Lys	p.N984K	Cytoplasmic DIIS6-DIIIS1	unpub.
c.2983A>G	p.Asn995Asp	p.N995D	Cytoplasmic DIIS6-DIIIS1	Johannesen (2021)
c.3040A>G	p.Lys1014Glu	p.K1014E	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3061G>C	p.Ala1021Pro	p.A1021P	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3111G>C	p.Leu1037Phe	p.L1037F	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3140A>G	p.Asn1047Ser	p.N1047S	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3144C>A	p.His1048Gln	p.H1048Q	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3148G>A	p.Gly1050Ser	p.G1050S	Cytoplasmic DIIS6-DIIIS1	Encinas (2020)
c.3148G>A	p.Gly1050Ser	p.G1050S	Cytoplasmic DIIS6-DIIIS1	McMichael (2015)
c.3163C>T	p.Arg1055Trp	p.R1055W	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3191A>G	p.Asn1064Ser	p.N1064S	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3218G>A	p.Ser1073Asn	p.S1073N	Cytoplasmic DIIS6-DIIIS1	Lindy (2018)
c.3226A>T	p.Lys1076*	p.K1076*	Cytoplasmic DIIS6-DIIIS1	Johannesen (2021)
c.3271A>T	p.Asn1091Tyr	p.N1091Y	Cytoplasmic DIIS6-DIIIS1	unpub
	p.Gly1101???	p.G1101?	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3344G>A	p.Ser1115Asn	p.S1115N	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3350C>T	p.Ser1117Leu	p.S1117L	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3356C>T	p.Pro1119Leu	p.P1119L	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3421C>A	p.Pro1141Thr	p.P1141T	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3502C>T	p.Arg1168Trp	p.R1168W	Cytoplasmic DIIS6-DIIIS1	unpub.
c.3552G>A	p.Trp1184*	p.W1184*	Cytoplasmic DIIS6-DIIIS1	Johannesen (2021)
c.3563G>A	p.Arg1188Gln	p.R1188Q	Cytoplasmic DIIS6-DIIIS1	Johannesen (2021)
c.3563G>A	p.Arg1188Gln	p.R1188Q	Cytoplasmic DIIS6-DIIIS1	Pennsylvania
c.3563G>A	p.Arg1188Gln	p.R1188Q	Cytoplasmic DIIS6-DIIIS1	Scott Perry Px Texas?
c.3580A>C	p.Ile1194Leu	p.I1194L	DIIIS1	unpub.
c.3601G>A	p.Glu1201Lys	p.E1201K	DIIIS1	unpub.
c.3610A>G	p.Ile1204Val	p.I1204V	DIIIS1	unpub.
c.3652G>A	p.Glu1218Lys	p.E1218K	Extracellular DIII(S1-S2)	Wagnon (2017)
c.3652G>A	p.Glu1218Lys	p.E1218K	Extracellular DIII(S1-S2)	unpub.
???	p.1232Thr	???		unpub.
c.3706G>C	p.Asp1236His	p.D1236H	DIIIS2	unpub.
c.3722A>G	p.Tyr1241Cys	p.Y1241C	DIIIS2	Encinas (2020)
c.3794G>A	p.Cys1265Tyr	p.C1265Y	DIIIS3	unpub.
c.3798G>C	p.Trp1266Cys	p.W1266C	DIIIS3	Lyu et al. (2023)
c.3809T>G	p.Leu1270Arg	p.L1270R	DIIIS3	unpub.
c.3844G>T	p.Ala1282Ser	p.A1281S	DIIIS3	unpub.
c.3869G>T	p.Gly1290Val	p.G1290V	Voltage sensing DIIIS4	Carvill (2013)
c.3914G>C	p.Arg1305Thr	p.R1305T	Voltage sensing DIIIS4	Johannesen (2021)
c.3921A>C	p.Leu1307Phe	p.L1307F	Voltage sensing DIIIS4	unpub.
c.3922T>C	p.Ser1308Pro	p.S1308P	Voltage sensing DIIIS4	Decipher (2014); Encinas (2020)
c.3922T>C	p.Ser1308Pro	p.S1308P	Voltage sensing DIIIS4	unpub.
c.3926G>T	p.Arg1309Leu	p.R1309L	Voltage sensing DIIIS4	unpubl.
c.3943G>A	p.Val1315Met	p.V1315M	Cytoplasmic DIII(S4-S5)	Bagnasco (2018)
c.3943G>A	p.Val1315Met	p.V1315M	Cytoplasmic DIII(S4-S5)	Denis (2019)
c.3943G>A	p.Val1315Met	p.V1315M	Cytoplasmic DIII(S4-S5)	Johannesen (2021)
c.3943G>A	p.Val1315Met	p.V1315M	Cytoplasmic DIII(S4-S5)	Encinas (2020)
c.3944T>C	p.Val1315Ala	p.V1315A	Cytoplasmic DIII(S4-S5)	unpub.
c.3944T>C	p.Val1315Ala	p.V1315A	Cytoplasmic DIII(S4-S5)	Odgis et al (2023)
c.3943G>T	p.Val1315Leu	p.V1315L	Cytoplasmic DIII(S4-S5)	unpub.
c.3943G>T	p.Val1315Leu	p.V1315L	Cytoplasmic DIII(S4-S5)	Trump (2016)
c.3943G>T	p.Val1315Leu	p.V1315L	Cytoplasmic DIII(S4-S5)	unpub
c.3946G>A	p.Val1316Met	p.V1316M	Cytoplasmic DIII(S4-S5)	unpub.
c.3946G>A	p.Val1316Met	p.V1316M	Cytoplasmic DIII(S4-S5)	unpub.
		p.V1316L		unpub.
c.3953A>G	p.Asn1318Ser	p.N1318S	Cytoplasmic DIII(S4-S5)	Johannesen
c.3953A>G	p.Asn1318Ser	p.N1318S	Cytoplasmic DIII(S4-S5)	Lin 2019
c.3953A>G	p.Asn1318Ser	p.N1318S	Cytoplasmic DIII(S4-S5)	unpub
c.3953A>G	p.Asn1318Ser	p.N1318S	Cytoplasmic DIII(S4-S5)	unpub
c.3953A>G	p.Asn1318Ser	p.N1318S	Cytoplasmic DIII(S4-S5)	Hu (2021)
c.3955G>A	p.Ala1319Thr	p.A1319T	Cytoplasmic DIII(S4-S5)	Johannesen (2021)
c.3955G>T	p.Ala1319Ser	p.A1319S	Cytoplasmic DIII(S4-S5)	Lindy (2018)
c.3955G>T	p.Ala1319Ser	p.A1319S	Cytoplasmic DIII(S4-S5)	Johannesen (2021)
c.3956C>A	p.Ala1319Asp	p.A1319D	Cytoplasmic DIII(S4-S5)	Johannesen
c.3960G>T	p.Leu1320Phe	p.L1320F	Cytoplasmic DIII(S4-S5)	Encinas (2020)
c.3967G>A	p.Ala1323Thr	p.A1323T	Cytoplasmic DIII(S4-S5)	unpub.
c.3967G>A	p.Ala1323Thr	p.A1323T	Cytoplasmic DIII(S4-S5)	unpub.
c.3967G>A	p.Ala1323Thr	p.A1323T	Cytoplasmic DIII(S4-S5)	Hu (2021)
c.3967G>A	p.Ala1323Thr	p.A1323T	Cytoplasmic DIII(S4-S5)	Johannesen (2021)
c.3967G>A	p.Ala1323Thr	p.A1323T	Cytoplasmic DIII(S4-S5)	Johannesen (2021)
c.3967G>A	p.Ala1323Thr	p.A1323T	Cytoplasmic DIII(S4-S5)	Xin (2024)
c.3967G>A	p.Ala1323Thr	p.A1323T	Cytoplasmic DIII(S4-S5)	unpub.
c.3967G>C	p.Ala1323Pro	p.A1323P	Cytoplasmic DIII(S4-S5)	Encinas (2020)
c.3967G>C	p.Ala1323Pro	p.A1323P	Cytoplasmic DIII(S4-S5)	unpub.
c.3967G>T	p.Ala1323Ser	p.A1323S	Cytoplasmic DIII(S4-S5)	Decipher (2014)
c.3967G>T	p.Ala1323Ser	p.A1323S	Cytoplasmic DIII(S4-S5)	Trump (2016); Encinas (2020)
c.3967G>T	p.Ala1323Ser	p.A1323S	Cytoplasmic DIII(S4-S5)	unpub.
c.3968C>G	p.Ala1323Gly	p.A1323G	Cytoplasmic DIII(S4-S5)	Hu (2021)
c.3979A>G	p.Ile1327Val	p.I1327V	DIIIS5	Vaher (2013)
c.3979A>G	p.Ile1327Val	p.I1327V	DIIIS5	Johannesen (2021)
c.3979A>G	p.Ile1327Val	p.I1327V	DIIIS5	Johannesen (2021)
c.3979A>G	p.Ile1327Val	p.I1327V	DIIIS5	Singh (2016)
c.3979A>G	p.Ile1327Val	p.I1327V	DIIIS5	unpub.
c.3979A>G	p.Ile1327Val	p.I1327V	DIIIS5	unpub.
c.3979A>G	p.Ile1327Val	p.I1327V	DIIIS5	Oates (2018)
c.3979A>G	p.Ile1327Val	p.I1327V	DIIIS5	Encinas (2020)
c.3983T>C	p.Met1328Thr	p.M1328T	DIIIS5	Encinas (2020)
c.3985A>G	p.Asn1329Asp	p.N1329D	DIIIS5	Butler (2017); Encinas (2020)
c.3988G>A	p.Val1330Met	p.V1330M	DIIIS5	unpub.
c.3991C>G	p.Leu1331Val	p.L1331V	DIIIS5	Larsen (2015); Encinas (2020)
c.3992T>A	p.Leu1331Gln	p.L1331Q	DIIIS5	Hu (2021)
c.3995T>G	p.Leu1332Arg	p.L1332R	DIIIS5	Butler (2017); Encinas (2020)
c.3995T>G	p.Leu1332Arg	p.L1332R	DIIIS5	Johannesen (2021)
c.4040A>T	p.Asn1347Ile	p.N1347I	DIIIS5	unpub.
c.4049C>T	p.Ala1350Val	p.A1350V	DIIIS5	unpub.
c.4048G>A	p.Ala1350Thr	p.A1350T	DIIIS5	unpub.
c.4141G>A	p.Glu1381Lys	p.E1381K	Extracellular pore loop DIII(S5-S6)	unpub.
c.4141G>A	p.Glu1381Lys	p.E1381K	Extracellular pore loop DIII(S5-S6)	unpub.
c.4196 T>C	p.Val1399Ala	p.V1399A	Extracellular pore loop DIII(S5-S6)	unpub.
c.4214C>A	p.Ala1405Asp	p.A1405D	Extracellular pore loop DIII (S5-S6)	Jain (2017); Encinas (2020)
c.4219C>T	p.Leu1407Phe	p.L1407F	Extracellular pore loop DIII(S5-S6)	unpub.
c.4312A>C	p.Ile1438Leu	p.I1438L	DIIIS6	unpub.
c.4320G>T	p.Met1440Ile	p.M1440I	DIIIS6	unpub.
c.4351G>A	p.Gly1451Ser	p.G1451S	DIIIS6	Blanchard (2015)
c.4351G>A	p.Gly1451Ser	p.G1451S	DIIIS6	Encinas (2020)
c.4351G>A	p.Gly1451Ser	p.G1451S	DIIIS6	unpub.
c.4351G>A	p.Gly1451Ser	p.G1451S	DIIIS6	unpub.
c.4351G>A	p.Gly1451Ser	p.G1451S	DIIIS6	unpub.
c.4351G>A	p.Gly1451Ser	p.G1451S	DIIIS6	unpub.
c.4351G>A	p.Gly1451Ser	p.G1451S	DIIIS6	unpub.
c.4351G>A	p.Gly1451Ser	p.G1451S	DIIIS6	unpub.
c.4377C>G	p.Phe1459Leu	p.F1459L	DIIIS6	unpub.
c.4377C>G	p.Phe1459Leu	p.F1459L	DIIIS6	unpub.
c.4377C>G	p.Phe1459Leu	p.F1459L	DIIIS6	Johannesen (2021)
c.4377C>G	p.Phe1459Leu	p.F1459L	DIIIS6	Johannesen (2021)
c.4378A>C	p.Ile1460Leu	p.I1460L	DIIIS6	unpub.
c.4378A>C	p.Ile1460Leu	p.I1460L	DIIIS6	unpub.
c.4378A>G	p.Ile1460Val	p.I1460V	DIIIS6	Hu (2021)
c.4378A>G	p.Ile1460Val	p.I1460V	DIIIS6	unpub
c.4382G>T	p.Gly1461Val	p.G1461V	DIIIS6	Encinas (2020)
		p.V1462I		Pang(2022)
c.4391T>C	p.Ile1464Thr	p.I1464T	DIIIS6	Encinas (2020)
c.4393G>T	p.Asp1465Tyr	p.D1465Y	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4394A>T	p.Asp1465Val	p.D1465V	Cytoplasmic inactivation gate DIIIS6-DIVS1	Encinas (2020)
c.4393G>A	p.Asp1465Asn	p.D1465N	Cytoplasmic inactivation gate DIIIS6-DIVS1	Johannesen (2021)
c.4393G>A	p.Asp1465Asn	p.D1465N	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4397A>C	p.Asn1466Thr	p.N1466T	Cytoplasmic inactivation gate DIIIS6-DIVS1	Ohba (2014), Guo (2022)
c.4398C>A	p.Asn1466Lys	p.N1466K	Cytoplasmic inactivation gate DIIIS6-DIVS1	Ohba (2014), Guo (2022)
c.4398C>A	p.Asn1466Lys	p.N1466K	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4398C>A	p.Asn1466Lys	p.N1466K	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4398C>A	p.Asn1466Lys	p.N1466K	Cytoplasmic inactivation gate DIIIS6-DIVS1	Johannesen (2021)
c.4399T>G	p.Phe1467Val	p.D1467V	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4400T>G	p.Phe1467Cys	p.F1467C	Cytoplasmic inactivation gate DIIIS6-DIVS1	Encinas (2020)
c.4409A>G	p.Gln1470Arg	p.Q1470R	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4408C>A	p.Gln1470Lys	p.Q1470K	Cytoplasmic inactivation gate DIIIS6-DIVS1	Denis (2019)
c.4408C>A	p.Gln1470Lys	p.Q1470K	Cytoplasmic inactivation gate DIIIS6-DIVS1	Denis
c.4408C>A	p.Gln1470Lys	p.Q1470K	Cytoplasmic inactivation gate DIIIS6-DIVS1	Pons
c.4410A>C	p.Gln1470His	p.Q1470H	Cytoplasmic inactivation gate DIIIS6-DIVS1	Trivisano
c.4411A>C	p.Lys1471Gln	p.K1471Q	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4412A>T	p.Lys1471Met	p.K1471M	Cytoplasmic inactivation gate DIIIS6-DIVS1	Johannesen (2021)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Parrini 2016; Xiao 2017; Ko 2018
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Gardella
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Gardella
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Gardella
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Johannesen
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Johannesen (2021)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Wang
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Liu
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Lindy (2018)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Jang
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Parrini 2016; Xiao 2017; Ko 2018; Encinas (2020)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Encinas (2020)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Ko (2018); Kim (2019)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Encinas (2020)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Encinas (2020)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Encinas (2020)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Encinas (2020)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Parrini 2016; Xiao 2017; Ko 2018
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Hu (2021)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Hu (2021)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Hu (2021)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Hu (2021)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Negi et al (2023)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Xiao (2017)
c.4423G>A	p.Gly1475Arg	p.G1475R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Parrini (2016)
c.4426G>A	p.Gly1476Ser	p.G1476S	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4426G>A	p.Gly1476Ser	p.G1476S	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4426G>A	p.Gly1476Ser	p.G1476S	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4427G>A	p.Gly1476Asp	p.G1476D	Cytoplasmic Inactivation gate DIIIS6-DIVS1	Han (2017)
c.4427G>A	p.Gly1476Asp	p.G1476D	Cytoplasmic Inactivation gate DIIIS6-DIVS2	unpub.
c.4427G>A	p.Gly1476Asp	p.G1476D	Cytoplasmic Inactivation gate DIIIS6-DIVS2	Encinas (2020)
c.4435A>G	p.Ile1479Val	p.I1479V	Cytoplasmic inactivation gate DIIIS6-DIVS1	Larsen (2015)
c.4435A>G	p.Ile1479Val	p.I1479V	Cytoplasmic inactivation gate DIIIS6-DIVS1	Encinas (2020)
c.4435A>G	p.Ile1479Val	p.I1479V	Cytoplasmic inactivation gate DIIIS6-DIVS1	Hu (2021)
c.4435A>T	p.Ile1479Phe	p.I1479F	Cytoplasmic inactivation gate DIIIS6-DIVS1	Johannesen (2021)
c.4441A>G	p.Met1481Val	p.M1481V	Cytoplasmic inactivation gate DIIIS6-DIVS1	Johannesen (2021)
c.4447G>A	p.Glu1483Lys	p.E1483K	Cytoplasmic inactivation gate DIIIS6-DIVS1	Gardella (2016); Ancora (2024)
c.4447G>A	p.Glu1483Lys	p.E1483K	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4447G>A	p.Glu1483Lys	p.E1483K	Cytoplasmic inactivation gate DIIIS6-DIVS1	Hebbar (2024)
c.4447G>A	p.Glu1483Lys	p.E1483K	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub.
c.4447G>A	p.Glu1483Lys	p.E1483K	Cytoplasmic inactivation gate DIIIS6-DIVS1	Encinas (2020)
c.4447G>A	p.Glu1483Lys	p.E1483K	Cytoplasmic inactivation gate DIIIS6-DIVS1	Gardella (2016); Ancora (2024)
c.4447G>A	p.Glu1483Lys	p.E1483K	Cytoplasmic inactivation gate DIIIS6-DIVS1	Ancora (2024)
c.4447G>C	p.Glu1483Gln	p.E1483Q	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub
c.4472C>T	p.Ala1491Val	p.A1491V	Cytoplasmic inactivation gate DIIIS6-DIVS1	unpub. (Gardella 2018)
c.4472C>T	p.Ala1491Val	p.A1491V	Cytoplasmic inactivation gate DIIIS6-DIVS1	Gardella (2018)
c.4474A>G	p.Met1492Val	p.M1492V	Cytoplasmic inactivation gate DIIIS6-DIVS1	Encinas (2020)
c.4474A>G	p.Met1492Val	p.M1492V	Cytoplasmic inactivation gate DIIIS6-DIVS1	Hu (2021)
c.4475T>C	p.Met1492Thr	p.M1492T	Cytoplasmic inactivation gate DIIIS6-DIVS1	Kim (2019)
c.4492A>G	p.Lys1498Glu	p.K1498E	Cytoplasmic inactivation gate DIIIS6-DIVS1	Lyu et al. (2023)
c.4493A>T	p.Lys1498Met	p.K1498M	Cytoplasmic inactivation gate DIIIS6-DIVS1	Gardella (2018); Encinas (2020)
c.4499C>T	p.Pro1500Leu	p.P1500L	Cytoplasmic inactivation gate DIIIS6-DIVS1	Bouzroud (2023)
c.4501C>A	p.Gln1501Lys	p.Q1501K	Cytoplasmic inactivation gate DIIIS6-DIVS1	Encinas (2020)
c.4508C>G	p.Pro1503Arg	p.P1503R	Cytoplasmic inactivation gate DIIIS6-DIVS1	Hu (2021)
c.4568C>A	p.Ala1523Asp	p.A1523D	DIVS1	unpub.
c.4573G>T	p.Asp1525Tyr	p.N.1525Y	DIVS1	Lyu et al. (2023)
c.4573G>T	p.Asp1525Tyr	p.N.1525Y	DIVS1	Lyu et al. (2023)
c.4587G>T	p.Met1529Ile	p.M1529I	DIVS1	unpub.
c.4585A>G	p.Met1529Val	p.M1529V	DIVS1	Johannesen (2019)
c.4585A>G	p.Met1529Val	p.M1529V	DIVS1	unpub.
c.4585A>G	p.Met1529Val	p.M1529V	DIVS1	unpub.
c.4594A>T	p.Ile1532Phe	p.I1532F	DIVS1	Encinas (2020)
c.4594A>T	p.Ile1532Phe	p.I1532F	DIVS1	Gardella (2018)
c.4594A>T	p.Ile1532Phe	p.I1532F	DIVS1	Moller (2016)
c.4608G>A	p.Met1536Ile	p.M1536I	DIVS1	Encinas (2020)
c.4608G>A	p.Met1536Ile	p.M1536I	DIVS1	Lindy (2018)
c.4606A>G	p.Met1536Val	p.M1536V	DIVS1	unpub.
c.4639T>G	p.Phe1547Val	p.F1547V	same as Phe1588Val???	unpub.
c.4642A>C	p.Lys1548Gln	p.K1548Q	Extracellular DIV(S1-S2)	Fang et al (2023)
c.4672A>C	p.Asn1558His	p.N1558H	DIVS2	unpub.
c.4687A>G	p.Ile1563Val	p.I1563V	DIVS2	unpub.
c.4697C>T	p.Thr1566Ile	p.T1566I	DIVS2	unpub.
c.4697C>T	p.Thr1566Ile	p.T1566I	DIVS2	Xin (2024)
c.4719G>A	p.Met1573Ile	p.M1573I	DIVS2	unpub.
c.4748T>C	p.Ile1583Thr	p.I1583T	DIVS3	Berghuis (2015); Encinas (2020)
c.4750G>A	p.Gly1584Arg	p.G1584R	DIVS3	Decipher; Encinas (2020)
c.4762T>G	p.Phe1588Val	p.F1588V	DIVS3	unpub.
c.4764C>A	p.Phe1588Leu	p.F1588L	DIVS3	Johannesen (2019)
c.4764C>A	p.Phe1588Leu	p.F1588L	DIVS3	Johannesen (2019)
c.4771G>A	p.Val1591Met	p.V1591M	DIVS3	unpub.
c.4771G>A	p.Val1591Met	p.V1591M	DIVS3	Fang et al (2023)
c.4774G>C	p.Val1592Leu	p.V1592L	DIVS3	Larsen (2015); Encinas (2020)
c.4774G>C	p.Val1592Leu	p.V1592L	DIVS3	unpub.
c.4780A>C	p.Ile1594Leu	p.I1594L	DIVS3	Encinas (2020)
c.4787C>G	p.Ser1596Cys	p.S1596C	DIVS3	Kong (2015)
c.4787C>G	p.Ser1596Cys	p.S1596C	DIVS3	Encinas (2020)
c.4787C>G	p.Ser1596Cys	p.S1596C	DIVS3	Boerma (2016)
c.4793T>C	p.Val1598Ala	p.V1598A	DIVS3	Wang (2017); Encinas (2020)
c.4814T>G	p.Ile1605Arg	p.I1605R	DIVS3	Larsen (2015); Encinas (2020)
c.4814T>C	p.Ile1605Thr	p.I1605T	DIVS3	Hu (2021)
c.4819G>A	p.Glu1607Lys	p.E1607K	Extracellular DIV(S3-S4)	unpub.
c.4819G>A	p.Glu1607Lys	p.E1607K	Extracellular DIV(S3-S4)	unpub.
c.4832T>A	p.Val1611Asp	p.V1611D	Extracellular DIV(S3-S4)	unpub
c.4840A>G	p.Thr1614Ala	p.T1614A	Extracellular DIV(S3-S4)	Encinas (2020)
c.4840A>G	p.Thr1614Ala	p.T1614A	Extracellular DIV(S3-S4)	Xin (2024)
c.4840A>G	p.Thr1614Ala	p.T1614A	Extracellular DIV(S3-S4)	Hu (2021)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Rauch (2012)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Johannesen (2021)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Johannesen (2021)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Johannesen (2021)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Johannesen (2021)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	unpub.
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	unpub.
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Ohba (2014)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Larsen (2015)/Gardella (2018)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Dyment (2014)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Kong (2015)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Fung (2017)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Encinas (2020)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Rauch 2012, Dyment 2014, Ohba 2014, Kong 2015, Larsen 2015, Fung 2017, Gardella 2018
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Encinas (2020)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Encinas (2020)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	unpub.
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	unpub.
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Encinas (2020)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	unpub.
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Hu (2021)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Encinas (2020)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Encinas (2020)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Encinas (2020)
c.4850G>A	p.Arg1617Gln	p.R1617Q	Voltage sensing DIVS4	Encinas (2020)
c.4850G>C	p.Arg1617Pro	p.R1617P	Voltage sensing DIVS4	Encinas (2020)
c.4850G>C	p.Arg1617PPro	p.R1617P	Voltage sensing DIVS4	Encinas (2020)
c.4850G>C	p.Arg1617Pro	p.R1617P	Voltage sensing DIVS4	Encinas (2020)
c.4850G>T	p.Arg1617Leu	p.R1617L	Voltage sensing DIVS4	Johannesen (2021)
c.4850G>T	p.Arg1617Leu	p.R1617L	Voltage sensing DIVS4	unpub.
c.4859G>T	p.Arg1620Leu	p.R1620L	Voltage sensing DIVS4	Liu
c.4862T>G	p.Leu1621Trp	p.L1621W	Voltage sensing DIVS4	Fung (2015)
c.4862T>G	p.Leu1621Trp	p.L1621W	Voltage sensing DIVS4	Encinas (2020)
c.4865C>A	p.Ala1622Asp	p.A1622D	Voltage sensing DIVS4	Johannesen (2021)
c.4865C>A	p.Ala1622Asp	p.A1622D	Voltage sensing DIVS4	Liu
c.4871T>G	p.Ile1624Ser	p.I1624S	Voltage sensing DIVS4	Kim (2023)
c.4873G>T	p.Gly1625Trp	p.G1625W	Voltage sensing DIVS4	Johannesen (2021)
c.4873G>A	p.Gly1625Arg	p.G1625R	Voltage sensing DIVS4	Decipher (2014)
c.4873G>C	p.Gly1625Arg	p.G1625R	Voltage sensing DIVS4	Encinas (2020)
c.4877G>T	p.Arg1626Leu	p.R1626L	Voltage sensing DIVS4	Turkyilmaz et al. (2024)
c.4877G>A	p.Arg1626His	p.R1626H	Voltage sensing DIVS4	unpub.
c.4880T>C	p.Ile1627Thr	p.I1627T	Voltage sensing DIVS4	unpub.
c.4880T>C	p.Ile1627Thr	p.I1627T	Voltage sensing DIVS4	unpub.
c.4880T>C	p.Ile1627Thr	p.I1627T	Voltage sensing DIVS4	unpub.
c.4883T>G	p.Leu1628Trp	p.L1628W	Voltage sensing DIVS4	unpub.
c.4883T>G	p.Leu1628Trp	p.L1628W	Voltage sensing DIVS4	Johannesen (2021)
c.4883T>G	p.Leu1628Trp	p.L1628W	Voltage sensing DIVS4	Oates
c.4886G>A	p.Arg1629His	p.R1629H	Voltage sensing DIVS4	Lyu et al. (2023)
c.4886G>C	p.Arg1629Pro	p.R1629P	Voltage sensing DIVS4	unpub.
c.4889T>C	p.Leu1630Pro	p.L1630P	Voltage sensing DIVS4	Encinas (2020)
c.4889T>C	p.Leu1630Pro	p.L1630P	Voltage sensing DIVS4	unpub.
c.4892T>A	p.Ile1631Asn	p.I1631N	Voltage sensing DIVS4	Lindy (2018)
c.4893C>G	p.Ile1631Met	p.I1631M	Voltage sensing DIVS4	unpub.
c.4900G>A	p.Ala1634Thr	p.A1634T	Voltage sensing DIVS4	unpub.
c.4912C>T	p.Arg1638Cys	p.R1638C	Voltage sensing DIVS4	unpub.
c.4918C>G	p.Leu1640Val	p.L1640V	Cytoplasmic DIV(S4-S5)	unpub. VUS
c.4921C>G	p.Leu1641Val	p.L1641V	Cytoplasmic DIV(S4-S5)	Johannesen (2021)
c.4922T>G	p.Leu1641Arg	p.L1641R	Cytoplasmic DIV(S4-S5)	Johannesen (2021)
c.4922T>C	p.Leu1641Pro	p.L1641P	Cytoplasmic DIV(S4-S5)	unpub.
c.4925T>G	p.Phe1642Cys	p.F1642C	Cytoplasmic DIV(S4-S5)	Encinas (2020)
c.4935G>A	p.Met1645Ile	p.M1645I	Cytoplasmic DIV(S4-S5)	unpub.
c.4936A>G	p.Met1646Val	p.M1646V	Cytoplasmic DIV(S4-S5)	unpub.
c.4937T>C	p.Met1646Thr	p.M1646T	Cytoplasmic DIV(S4-S5)	unpub.
c.4937T>C	p.Met1646Thr	p.M1646T	Cytoplasmic DIV(S4-S5)	unpub.
c.4944G>C	p.Leu1648Phe	p.L1648F	Cytoplasmic DIV(S4-S5)	unpub.
c.4944G>C	p.Leu1648Phe	p.L1648F	Cytoplasmic DIV(S4-S5)	unpub.
c.4948G>A	p.Ala1650Thr	p.A1650T	Cytoplasmic DIV(S4-S5)	Ohba (2014)
c.4948G>A	p.Ala1650Thr	p.A1650T	Cytoplasmic DIV(S4-S5)	Larsen (2015)/Gardella (2018)
c.4948G>A	p.Ala1650Thr	p.A1650T	Cytoplasmic DIV(S4-S5)	Encinas (2020)
c.4948G>A	p.Ala1650Thr	p.A1650T	Cytoplasmic DIV(S4-S5)	Parrini (2016)/Gardella (2018)
c.4949C>T	p.Ala1650Val	p.A1650V	Cytoplasmic DIV(S4-S5)	Encinas (2020)
c.4949C>T	p.Ala1650Val	p.A1650V	Cytoplasmic DIV(S4-S5)	Lindy (2018)
c.4949C>T	p.Ala1650Val	p.A1650V	Cytoplasmic DIV(S4-S5)	Johannesen (2021)
c.4951C>G	p.Leu1651Val	p.L1651V	Cytoplasmic DIV(S4-S5)	Johannesen (2021)
c.4951C>G	p.Leu1651Val	p.L1651V	Cytoplasmic DIV(S4-S5)	unpub.
c.4951C>G	p.Leu1651Val	p.L1651V	Cytoplasmic DIV(S4-S5)	unpub.
c.4961T>A	p.Ile1654Asn	p.I1654N	DIVS5	Johannesen (2019)
c.5015A>G	p.Asn1672Ser	p.N1672S	DIVS5	Johannesen (2021)
c.5059A>G	p.Asn1687Asp	p.N1687D	Extracellular pore loop DIV(S5-S6)	unpub.
c.5087T>G	p.Ile1696Ser	p.I1696S	Extracellular pore loop DIV(S5-S6)	unpub.
c.5108C>A	p.Thr1703Asn	p.T1703N	Extracellular pore loop DIV(S5-S6)	unpub.
c.5108C>A	p.Thr1703Asn	p.T1703N	Extracellular pore loop DIV(S5-S6)	unpub.
c.5156C>G	p.Pro1719Arg	p.P1719R	Extracellular pore loop DIV(S5-S6)	Wagnon (2017)
c.5257T>G	p.Ser1753Ala	p.S1753A	DIVS6	unpub.
c.5261T>C	p.Phe1754Ser	p.F1754S	DIVS6	Trump (2016); Encinas (2020)
c.5269G>A	p.Val1757Ile	p.V1757I	DIVS6	unpub.
c.5269G>A	p.Val1757Ile	p.V1757I	DIVS6	unpub.
c.5273T>C	p.Val1758Ala	p.V1758A	DIVS6	Johannesen (2019)
c.5276A>G	p.Asn1759Ser	p.N1759S	DIVS6	unpub.
c.5276A>C	p.Asn1759Thr	p.N1759T	DIVS6	Kim 2019
c.5278A>G	p.Met1760Val	p.M1760V	DIVS6	Hu (2021)
c.5278A>C	p.Met1760Leu	p.M1760L	DIVS6	unpub.
c.5280G>A	p.Met1760Ile	p.M1760I	DIVS6	unpub.
c.5280G>A	p.Met1760Ile	p.M1760I	DIVS6	unpub.
c.5280G>A	p.Met1760Ile	p.M1760I	DIVS6	unpub.
c.5281T>C	p.Tyr1761His	p.Y1761H	DIVS6	Johannesen (2021)
c.5281T>C	p.Tyr1761His	p.Y1761H	DIVS6	Yuen
c.5282A>G	p.Tyr1761Cys	p.Y1761C	DIVS6	unpub.
c.5285T>C	p.Ile1762Thr	p.I1762T	DIVS6	unpub.
c.5284A>C	p.Ile1762Leu	p.I1762L	DIVS6	unpub.
c.5288C>G	p.Ala1763Gly	p.A1763G	DIVS6	Denis (2019)
c.5288C>G	p.Ala1763Gly	p.A1763G	DIVS6	unpub.
c.5292C>G	p.Ile1764Met	p.I1764M	DIVS6	Gardella (2018)
c.5297T>G	p.Leu1766Arg	p.L1766R	DIVS6	unpub.
c.5302A>G	p.Asn1768Asp	p.N1768D	Cytoplasmic C-terminus	Veeramah (2012)
c.5309G>C	p.Ser1770Thr	p.S1770T	Cytoplasmic C-terminus	unpub.
c.5311G>A	p.Val1771Ile	p.V1771I	Cytoplasmic C-terminus	Johannesen (2019)
c.5311G>A	p.Val1771Ile	p.V1771I		unpub.
c.5332G>C	p.Asp1778His	p.D1778H	Cytoplasmic C-terminus	unpubl.
c.5333A>G	p.Asp1778Gly	p.D1778G	Cytoplasmic C-terminus	unpub
c.5333A>G	p.Asp1778Gly	p.D1778G	Cytoplasmic C-terminus	Johannesen (2021)
c.5339T>G	p.Leu1780Arg	p.L1780R	Cytoplasmic C-terminus	unpub.
c.5357A>T	p.Glu1786Val	p.E1786V	Cytoplasmic C-terminus	unpub.
c.5359A>C	p.Thr1787Pro	p.T1787P	Cytoplasmic C-terminus	Johannesen (2021)
c.5360C>A	p.Thr1787Asn	p.T1787N	Cytoplasmic C-terminus	Hu (2021)
c.5368G>A	p.Glu1790Lys	p.E1790K	Cytoplasmic C-terminus	unpub
c.5386G>A	p.Asp1796Asn	p.D1796N	Cytoplasmic C-terminus	unpub.
c.5401C>G	p.Gln1801Glu	p.Q1801E	Cytoplasmic C-terminus	Larsen (2015); Encinas (2020)
c.5421G>C	p.Lys1807Asn	p.L1807N	Cytoplasmic C-terminus	Encinas (2020)
c.5426C>A	p.Ala1809Glu	p.A1809E	Cytoplasmic C-terminus	unpub
c.5458C>T	p.Arg1820*	p.R1820*	Cytoplasmic C-terminus	Moller (2016)
c.5459G>A	p.Arg1820Gln	p.R1820Q	Cytoplasmic C-terminus	unpub.
		p. 1822		NA
c.5479A>G	p.Ile1827Val	p.I1827V	Cytoplasmic C-terminus	Encinas (2020)
c.5479A>G	p.Ile1827Val	p.I1827V	Cytoplasmic C-terminus	Fang et al (2023)
c.5482G>A	p.Glu1828Lys	p.E1828K	Cytoplasmic C-terminus	unpub
c.5491G>A	p.Ala1831Thr	p.A1831T	Cytoplasmic C-terminus	unpub.
c.5497G>C	p.Asp1833His	p.D1833H	Cytoplasmic C-terminus	Johannesen (2019)
c.5498A>T	p.Asp1833Val	p.D1833V	Cytoplasmic C-terminus	Hu (2021)
c.5530T>C	p.Cys1844Arg	p.C1844R	Cytoplasmic C-terminus	unpub.
c.5538C>A	p.Asp1846Glu	p.D1846E	Cytoplasmic C-terminus	unpub.
c.5555C>T	p.Thr1852Ile	p.T1852I	Cytoplasmic C-terminus	Encinas (2020)
c.5555C>T	p.Thr1852Ile	p.T1852I	Cytoplasmic C-terminus	unpub.
c.5558A>G	p.Lys1853Arg	p.K1853R	Cytoplasmic C-terminus	Decipher; Encinas (2020)
c.5558A>C	p.Lys1853Thr	p.K1853T	Cytoplasmic C-terminus	unpub.
c.5585T>C	p.Leu1862Ser	p.L1862S	Cytoplasmic C-terminus	unpub.
c.5594T>C	p.Leu1865Pro	p.L1865P	Cytoplasmic C-terminus	Trump (2016)
c.5594T>C	p.Leu1865Pro	p.L1865P	Cytoplasmic C-terminus	Johannesen (2021)
c.5597G>A	p.Arg1866Gln	p.R1866Q	Cytoplasmic C-terminus	Encinas (2020)
c.5597G>A	p.Arg1866Gln	p.R1866Q	Cytoplasmic C-terminus	unpub
c.5597G>A	p.Arg1866Gln	p.R1866Q	Cytoplasmic C-terminus	unpub
c.5597G>A	p.Arg1866Gln	p.R1866Q	Cytoplasmic C-terminus	Johannesen (2019)
c.5597G>A	p.Arg1866Gln	p.R1866Q	Cytoplasmic C-terminus	Kothur (2018)
c.5597G>C	p.Arg1866Pro	p.R1866P	Cytoplasmic C-terminus	unpub
c.5605A>G	p.Met1869Val	p.M1869V	Cytoplasmic C-terminus	unpub.
c.5606T>C	p.Met1869Thr	p.M1869T	Cytoplasmic C-terminus	Hu (2021)
c.5606T>C	p.Met1869Thr	p.M1869T	Cytoplasmic C-terminus	Hu (2021)
c.5606T>C	p.Met1869Thr	p.M1869T	Cytoplasmic C-terminus	Innes (2024)
c.5610A>C	p.Glu1870Asp	p.E1870D	Cytoplasmic C-terminus	Johannesen (2021)
c.5610A>C	p.Glu1870Asp	p.E1870D	Cytoplasmic C-terminus	Boerma (2016)
c.5610A>C	p.Glu1870Asp	p.E1870D	Cytoplasmic C-terminus	Encinas (2020)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Ohba (2014)/Gardella (2018)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Larsen (2015)/Gardella (2018)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Larsen (2015)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Takahashi (2015)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Encinas (2020)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Encinas (2020)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Encinas (2020)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Encinas (2020)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpublished
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Encinas (2020)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Zhang (2017)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Johannesen (2021)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Johannesen (2021)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Johannesen (2021)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Johannesen (2021)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Johannesen (2021)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Parrini (2016)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Encinas (2020)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Encinas (2020)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Ko (2018); Kim (2019)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Encinas (2020)
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	unpub.
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Ohba 2014, Larsen 2015, Tajahashi 2015, Parrini 2016, Wagnon 2016, Zhang 2017, Gardella 2018, Ko 2018
c.5614C>T	p.Arg1872Trp	p.R1872W	Cytoplasmic C-terminus	Ohba 2014, Larsen 2015, Tajahashi 2015, Parrini 2016, Wagnon 2016, Zhang 2017, Gardella 2018, Ko 2018
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Larsen (2015)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Larsen (2015)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Wagnon (2016)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Hussain (2016)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Horvath (2016)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Encinas (2020)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Encinas (2020)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	unpub.
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	unpub.
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	unpub.
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Johannesen (2021)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Johannesen (2021)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Johannesen (2021)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Decipher
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Encinas (2020)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Arafat (2017)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Unpub.
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Hu (2021)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Hu (2021)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Hu (2021)
c.5615G>A	p.Arg1872Gln	p.R1872Q	Cytoplasmic C-terminus	Xin (2024)
c.5615G>T	p.Arg1872Leu	p.R1872L	Cytoplasmic C-terminus	Wagnon (2016); Encinas (2020)
c.5615G>T	p.Arg1872Leu	p.R1872L	Cytoplasmic C-terminus	Lindy (2018)
c.5615G>T	p.Arg1872Leu	p.R1872L	Cytoplasmic C-terminus	Zaman (2019)
c.5615G>T	p.Arg1872Leu	p.R1872L	Cytoplasmic C-terminus	Wagnon (2016)
c.5615G>C	p.Arg1872Pro	p.R1872P	Cytoplasmic C-terminus	Encinas (2020)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Encinas (2020)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Johannesen (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Johannesen (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Johannesen (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Johannesen (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Johannesen (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Johannesen (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Johannesen (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Johannesen (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Johannesen (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Johannesen (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Johannesen (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Encinas (2020)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Encinas (2020)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Aanad (2016)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Encinas (2020)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Wang (2017)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Butler (2017)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Encinas (2020)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	unpub.
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	unpub.
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	unpub.
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Medlin 2020
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Parrini (2016)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Kim (2023)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Hu (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Hu (2021)
c.5630A>G	p.Asn1877Ser	p.N1877S	Cytoplasmic C-terminus	Aanand 2016, Parrini 2016, Butler 2017, Wang 2017
c.5632C>T	p.Pro1878Ser	p.P1878S	Cytoplasmic C-terminus	Lindy (2018)
c.5659A>G	p.Thr1887Ala	p.T1887A	Cytoplasmic C-terminus	Hu (2021)
c.5659A>G	p.Thr1887Ala	p.T1887A	Cytoplasmic C-terminus	Hu (2021)
c.5675G>A	p.Arg1892His	p.R1892H	Cytoplasmic C-terminus	unpub.
c.5710C>T	p.Arg1904Cys	p.R1904C	Cytoplasmic C-terminus	unpub.
c.5719C>T	p.Arg1907Trp	p.R1907W	Cytoplasmic C-terminus	Decipher; Encinas (2020)
c.5737C>T	p.Arg1913Trp	p.R1913W	Cytoplasmic C-terminus	Lyu et al. (2023)
c.5741G>C	p.Gly1914Ala	p.G1914A	Cytoplasmic C-terminus	Negi et al (2023)
c.5761A>G	p.Thr1921Ala	p.T1921A	Cytoplasmic C-terminus	unpub.
c.5793C>A	p.His1931Gln	p.H1931Q	Cytoplasmic C-terminus	unpub.
c.5816C>T	p.Pro1939Leu	p.P1939L	Cytoplasmic C-terminus	unpub.
c.5816C>T	p.Pro1939Leu	p.P1939L	Cytoplasmic C-terminus	unpub.
c.5887G>T	p.Glu1963*	p.E1963*	Cytoplasmic C-terminus	unpub.