Entrez Gene ID	6323
Official Gene Symbol	SCN1A (GeneCards)
Full name	sodium voltage-gated channel alpha subunit 1
Location	2q24.3
Other ids	Vega : OTTHUMG00000044173 MIM : 182389 HGNC : HGNC:10585 Ensembl : ENSG00000144285
Other names	FEB3, FHM3, NAC1, SCN1, SMEI, EIEE6, FEB3A, HBSCI, GEFSP2, Nav1.1
Summary	Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]

Variants

Found 187 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
128	6323	SCN1A	2	166848017	166848017	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; TYPE 2	ABI3730
129	6323	SCN1A	2	166850661	166850661	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; TYPE 2	ABI3730
246	6323	SCN1A	2	166901678	166901678	Dravet syndrome	ABI3730 Sanger
247	6323	SCN1A	2	166901678	166901678	Dravet syndrome	ABI3730 Sanger
248	6323	SCN1A	2	166901678	166901678	Dravet syndrome	ABI3730 Sanger
249	6323	SCN1A	2	166901678	166901678	Dravet syndrome	ABI3730 Sanger
295	6323	SCN1A	2	166911170	166911170	Dravet syndrome	ABI3730 Sanger Taqman
317	6323	SCN1A	2	166866246	166866246	Dravet syndrome	ABI3730 Sanger Taqman RFLP
318	6323	SCN1A	2	166866246	166866246	Dravet syndrome	ABI3730 Sanger Taqman RFLP
319	6323	SCN1A	2	166866246	166866246	Dravet syndrome	ABI3730 Sanger Taqman RFLP
422	6323	SCN1A	2	166911147	166911147	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC
423	6323	SCN1A	2	166911147	166911147	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC
424	6323	SCN1A	2	166911147	166911147	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC
425	6323	SCN1A	2	166908463	166908463	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC
426	6323	SCN1A	2	166908457	166908457	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC
444	6323	SCN1A	2	166905461	166905461	Severe myoclonic epilepsy of infancy	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA
445	6323	SCN1A	2	166901591	166901591	Severe myoclonic epilepsy of infancy	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA
451	6323	SCN1A	2	166894291	166894291	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA
452	6323	SCN1A	2	166848545	166848545	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA
453	6323	SCN1A	2	166848545	166848545	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA
454	6323	SCN1A	2	166848545	166848545	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA
455	6323	SCN1A	2	166848545	166848545	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA
639	6323	SCN1A	2	166911148	166911148	Autism Spectrum Disorders	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000
642	6323	SCN1A	2	166848438	166848438	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
643	6323	SCN1A	2	166915126	166915126	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
644	6323	SCN1A	2	166894440	166894440	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
645	6323	SCN1A	2	166848852	166848852	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
646	6323	SCN1A	2	166848230	166848230	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
647	6323	SCN1A	2	166904137	166904137	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
648	6323	SCN1A	2	166895930	166895930	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
649	6323	SCN1A	2	166868765	166868765	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
650	6323	SCN1A	2	166868765	166868765	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
651	6323	SCN1A	2	166868771	166868772	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
652	6323	SCN1A	2	166859043	166859043	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
653	6323	SCN1A	2	166915194	166915194	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
654	6323	SCN1A	2	166894396	166894396	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
655	6323	SCN1A	2	166894554	166894554	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
656	6323	SCN1A	2	166901776	166901776	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
657	6323	SCN1A	2	166904189	166904189	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
658	6323	SCN1A	2	166854673	166854673	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
659	6323	SCN1A	2	166894639	166894639	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
660	6323	SCN1A	2	166848782	166848782	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
661	6323	SCN1A	2	166856269	166856269	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM
22606	6323	SCN1A	2	166927525	166927525	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning
29947	6323	SCN1A	2	166904194	166904194	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29948	6323	SCN1A	2	166894639	166894639	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29949	6323	SCN1A	2	166848438	166848438	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29950	6323	SCN1A	2	166848230	166848230	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29951	6323	SCN1A	2	166894396	166894396	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29952	6323	SCN1A	2	166894440	166894440	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29953	6323	SCN1A	2	166900371	166900371	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29954	6323	SCN1A	2	166895938	166895938	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29955	6323	SCN1A	2	166904178	166904178	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29956	6323	SCN1A	2	166852541	166852541	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29957	6323	SCN1A	2	166894440	166894440	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29958	6323	SCN1A	2	166848852	166848852	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29959	6323	SCN1A	2	166915194	166915194	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29960	6323	SCN1A	2	166868765	166868765	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29961	6323	SCN1A	2	166866246	166866246	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29962	6323	SCN1A	2	166892659	166892659	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29963	6323	SCN1A	2	166904273	166904273	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29964	6323	SCN1A	2	166911262	166911262	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29965	6323	SCN1A	2	166848782	166848782	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29966	6323	SCN1A	2	166904178	166904178	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29967	6323	SCN1A	2	166901753	166901753	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29968	6323	SCN1A	2	166905453	166905453	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29969	6323	SCN1A	2	166868765	166868765	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29970	6323	SCN1A	2	166894396	166894396	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29971	6323	SCN1A	2	166859043	166859043	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29972	6323	SCN1A	2	166898844	166898844	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29973	6323	SCN1A	2	166848864	166848864	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29974	6323	SCN1A	2	166854686	166854686	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29975	6323	SCN1A	2	166894436	166894436	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29976	6323	SCN1A	2	166872120	166872120	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
29977	6323	SCN1A	2	166900385	166900385	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM
30173	6323	SCN1A	2	166915162	166915162	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP
30174	6323	SCN1A	2	166852557	166852557	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP
30175	6323	SCN1A	2	166854574	166854574	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP
30208	6323	SCN1A	2	166852531	166852531	EIEE6	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR
30209	6323	SCN1A	2	166915131	166915131	EIEE6	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture
30210	6323	SCN1A	2	166903453	166903453	EIEE6	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture
30211	6323	SCN1A	2	166929992	166929992	EIEE6	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture
30220	6323	SCN1A	2	166909399	166909434	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture
30221	6323	SCN1A	2	166872240	166872240	GEFS Plus	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture
30222	6323	SCN1A	2	166848592	166848592	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR
30223	6323	SCN1A	2	166848437	166848437	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR
30225	6323	SCN1A	2	166905442	166905442	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR
30226	6323	SCN1A	2	166901678	166901678	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR
30227	6323	SCN1A	2	166901678	166901678	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR
30228	6323	SCN1A	2	166858991	166859004	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR
30229	6323	SCN1A	2	166866352	166866352	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR
30230	6323	SCN1A	2	166909454	166909454	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR
30897	6323	SCN1A	2	166870410	166870410	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30898	6323	SCN1A	2	166852556	166852556	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30899	6323	SCN1A	2	166856286	166856286	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30900	6323	SCN1A	2	166901794	166901794	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30901	6323	SCN1A	2	166900476	166900476	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30902	6323	SCN1A	2	166929947	166929948	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30903	6323	SCN1A	2	166872124	166872124	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30904	6323	SCN1A	2	166908432	166908432	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30905	6323	SCN1A	2	166911272	166911272	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30906	6323	SCN1A	2	166911272	166911272	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30907	6323	SCN1A	2	166897930	166897930	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30908	6323	SCN1A	2	166903467	166903467	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30909	6323	SCN1A	2	166868758	166868758	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30910	6323	SCN1A	2	166900229	166900229	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30911	6323	SCN1A	2	166894463	166894463	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30912	6323	SCN1A	2	166911190	166911190	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30913	6323	SCN1A	2	166859057	166859057	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30914	6323	SCN1A	2	166895993	166895993	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30915	6323	SCN1A	2	166847830	166847830	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30916	6323	SCN1A	2	166905454	166905454	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30917	6323	SCN1A	2	166859046	166859046	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30918	6323	SCN1A	2	166850697	166850697	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30919	6323	SCN1A	2	166856265	166856265	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30920	6323	SCN1A	2	166859141	166859141	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30921	6323	SCN1A	2	166868684	166868684	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30922	6323	SCN1A	2	166897871	166897871	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
30923	6323	SCN1A	2	166847761	166847761	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32145	6323	SCN1A	2	166895972	166895972	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32146	6323	SCN1A	2	166872137	166872137	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32147	6323	SCN1A	2	166897895	166897895	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32148	6323	SCN1A	2	166868705	166868705	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32149	6323	SCN1A	2	166895990	166895990	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32150	6323	SCN1A	2	166915193	166915193	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32151	6323	SCN1A	2	166848557	166848557	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32152	6323	SCN1A	2	166892770	166892770	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32153	6323	SCN1A	2	166870343	166870343	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32154	6323	SCN1A	2	166852595	166852595	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32155	6323	SCN1A	2	166894550	166894550	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32156	6323	SCN1A	2	166905460	166905460	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32157	6323	SCN1A	2	166930041	166930041	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32158	6323	SCN1A	2	166930104	166930104	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32159	6323	SCN1A	2	166894453	166894453	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32160	6323	SCN1A	2	166894453	166894453	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32161	6323	SCN1A	2	166894453	166894453	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32162	6323	SCN1A	2	166894453	166894453	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32163	6323	SCN1A	2	166894453	166894453	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32164	6323	SCN1A	2	166900483	166900483	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32165	6323	SCN1A	2	166930080	166930080	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32166	6323	SCN1A	2	166897877	166897877	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32167	6323	SCN1A	2	166901820	166901820	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32168	6323	SCN1A	2	166900470	166900470	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32169	6323	SCN1A	2	166892923	166892923	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32170	6323	SCN1A	2	166901820	166901820	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32171	6323	SCN1A	2	166847852	166847852	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32172	6323	SCN1A	2	166847852	166847852	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32173	6323	SCN1A	2	166852571	166852571	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32174	6323	SCN1A	2	166896034	166896034	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32175	6323	SCN1A	2	166911221	166911221	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32176	6323	SCN1A	2	166900231	166900231	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32177	6323	SCN1A	2	166901827	166901827	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32178	6323	SCN1A	2	166900231	166900231	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32179	6323	SCN1A	2	166859089	166859089	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32180	6323	SCN1A	2	166897855	166897855	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32181	6323	SCN1A	2	166892909	166892909	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32182	6323	SCN1A	2	166892909	166892909	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32183	6323	SCN1A	2	166930114	166930114	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32184	6323	SCN1A	2	166900526	166900526	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32185	6323	SCN1A	2	166900526	166900526	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32186	6323	SCN1A	2	166900526	166900526	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32187	6323	SCN1A	2	166903430	166903430	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
32188	6323	SCN1A	2	166900305	166900305	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33500	6323	SCN1A	2	166930021	166930021	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33501	6323	SCN1A	2	166908378	166908378	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33502	6323	SCN1A	2	166904265	166904265	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33503	6323	SCN1A	2	166896095	166896095	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33504	6323	SCN1A	2	166908371	166908371	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33505	6323	SCN1A	2	166896095	166896095	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33506	6323	SCN1A	2	166898891	166898891	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33507	6323	SCN1A	2	166900427	166900427	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33508	6323	SCN1A	2	166901645	166901645	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33509	6323	SCN1A	2	166915177	166915177	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33510	6323	SCN1A	2	166850785	166850785	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33511	6323	SCN1A	2	166911189	166911189	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33512	6323	SCN1A	2	166904264	166904264	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33513	6323	SCN1A	2	166866240	166866240	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33514	6323	SCN1A	2	166911220	166911221	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33515	6323	SCN1A	2	166866245	166866245	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33516	6323	SCN1A	2	166900523	166900523	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33517	6323	SCN1A	2	166870272	166870272	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33518	6323	SCN1A	2	166900370	166900370	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
33519	6323	SCN1A	2	166908372	166908372	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
34119	6323	SCN1A	2	166905453	166905453	Asymptomatic	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel
34243	6323	SCN1A	2	166848782	166848782	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel Whole Genome Sequencing Pyrosequencing Sanger Sequencing
34247	6323	SCN1A	2	166854673	166854673	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel Whole Genome Sequencing Pyrosequencing Sanger Sequencing
34643	6323	SCN1A	2	166903479	166903479	Dravet syndrome	ABI3730 Sanger Taqman RFLP DHPLC TaqMAMA HiSeq 2000 PASM Single cell Sequencing Cell cloning Sanger mDDPCR PASM smMIP Raindance Emulsion PCR Custom capture smMIP DDPCR DDPCR NGS gene panel Whole Genome Sequencing Pyrosequencing Sanger Sequencing Whole Exome Sequencing Sanger Sequencing

SCN1A (Entrez ID: 6323)

Variants