You searched for: PCDH19 6323

Found 211 variants. Export table to Excel

Variant ID	Entrez Gene ID	Gene	Location	Mutation	Disease	Method
99	57526	PCDH19	hg19 X:99662577-99662577 hg38 X:100407579-100407579	NC_000023.10:g.99662577 T>C	Early infantile epileptic encephalopathy9	ABI3130XL
100	57526	PCDH19	hg19 X:99662577-99662577 hg38 X:100407579-100407579	NC_000023.10:g.99662577 T>C	Early infantile epileptic encephalopathy9	ABI3130XL
101	57526	PCDH19	hg19 X:99662577-99662577 hg38 X:100407579-100407579	NC_000023.10:g.99662577 T>C	Early infantile epileptic encephalopathy9	ABI3130XL
102	57526	PCDH19	hg19 X:99662577-99662577 hg38 X:100407579-100407579	NC_000023.10:g.99662577 T>C	Early infantile epileptic encephalopathy9	ABI3130XL
128	6323	SCN1A	hg19 2:166848017-166848017 hg38 2:165991507-165991507	NC_000002.11:g.166848017 T>C	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; TYPE 2	ABI3730
129	6323	SCN1A	hg19 2:166850661-166850661 hg38 2:165994151-165994151	NC_000002.11:g.166850661 A>G	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; TYPE 2	ABI3730
246	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	Sanger
247	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	Sanger
248	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	Sanger
249	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	Sanger
295	6323	SCN1A	hg19 2:166911170-166911170 hg38 2:166054660-166054660	NC_000002.11:g.166911170 C>T	Dravet syndrome	Taqman
317	6323	SCN1A	hg19 2:166866246-166866246 hg38 2:166009736-166009736	NC_000002.11:g.166866246 G>A	Dravet syndrome	RFLP
318	6323	SCN1A	hg19 2:166866246-166866246 hg38 2:166009736-166009736	NC_000002.11:g.166866246 G>A	Dravet syndrome	RFLP
319	6323	SCN1A	hg19 2:166866246-166866246 hg38 2:166009736-166009736	NC_000002.11:g.166866246 G>A	Dravet syndrome	RFLP
422	6323	SCN1A	hg19 2:166911147-166911147 hg38 2:166054637-166054637	NC_000002.11:g.166911147 C>T	Dravet syndrome	DHPLC
423	6323	SCN1A	hg19 2:166911147-166911147 hg38 2:166054637-166054637	NC_000002.11:g.166911147 C>T	Dravet syndrome	DHPLC
424	6323	SCN1A	hg19 2:166911147-166911147 hg38 2:166054637-166054637	NC_000002.11:g.166911147 C>T	Dravet syndrome	DHPLC
425	6323	SCN1A	hg19 2:166908463-166908463 hg38 2:166051953-166051953	NC_000002.11:g.166908463 C>A	Dravet syndrome	RFLP
426	6323	SCN1A	hg19 2:166908457-166908457 hg38 2:166051947-166051947	NC_000002.11:g.166908457 T>A	Dravet syndrome	RFLP
444	6323	SCN1A	hg19 2:166905461-166905461 hg38 2:166048951-166048951	NC_000002.11:g.166905461 T>G	Severe myoclonic epilepsy of infancy	TaqMAMA
445	6323	SCN1A	hg19 2:166901591-166901591 hg38 2:166045081-166045081	NC_000002.11:g.166901591 G>A	Severe myoclonic epilepsy of infancy	TaqMAMA
451	6323	SCN1A	hg19 2:166894291-166894291 hg38 2:166037781-166037781	NC_000002.11:g.166894291 C>T	Dravet syndrome	DHPLC
452	6323	SCN1A	hg19 2:166848545-166848545 hg38 2:165992035-165992035	NC_000002.11:g.166848545_166848545 ins TT	Dravet syndrome	RFLP
453	6323	SCN1A	hg19 2:166848545-166848545 hg38 2:165992035-165992035	NC_000002.11:g.166848545_166848545 ins TT	Dravet syndrome	RFLP
454	6323	SCN1A	hg19 2:166848545-166848545 hg38 2:165992035-165992035	NC_000002.11:g.166848545_166848545 ins TT	Dravet syndrome	RFLP
455	6323	SCN1A	hg19 2:166848545-166848545 hg38 2:165992035-165992035	NC_000002.11:g.166848545_166848545 ins TT	Dravet syndrome	RFLP
639	6323	SCN1A	hg19 2:166911148-166911148 hg38 2:166054638-166054638	NC_000002.11:g.166911148 C>T	Autism Spectrum Disorders	HiSeq 2000
642	6323	SCN1A	hg19 2:166848438-166848438 hg38 2:165991928-165991928	NC_000002.11:g.166848438 C>T	Dravet syndrome	PASM
643	6323	SCN1A	hg19 2:166915126-166915126 hg38 2:166058616-166058616	NC_000002.11:g.166915126 G>T	Dravet syndrome	PASM
644	6323	SCN1A	hg19 2:166894440-166894440 hg38 2:166037930-166037930	NC_000002.11:g.166894440 C>T	Dravet syndrome	PASM
645	6323	SCN1A	hg19 2:166848852-166848852 hg38 2:165992342-165992342	NC_000002.11:g.166848852 G>A	Dravet syndrome	PASM
646	6323	SCN1A	hg19 2:166848230-166848230 hg38 2:165991720-165991720	NC_000002.11:g.166848230 A>G	Dravet syndrome	PASM
647	6323	SCN1A	hg19 2:166904137-166904137 hg38 2:166047627-166047627	NC_000002.11:g.166904137 C>A	Dravet syndrome	PASM
648	6323	SCN1A	hg19 2:166895930-166895930 hg38 2:166039420-166039420	NC_000002.11:g.166895930 T>A	Dravet syndrome	PASM
649	6323	SCN1A	hg19 2:166868765-166868765 hg38 2:166012255-166012255	NC_000002.11:g.166868765 G>A	Dravet syndrome	PASM
650	6323	SCN1A	hg19 2:166868765-166868765 hg38 2:166012255-166012255	NC_000002.11:g.166868765 G>A	Dravet syndrome	PASM
651	6323	SCN1A	hg19 2:166868771-166868772 hg38 2:166012261-166012262	NC_000002.11:g.166868771_166868772 ins AT	Dravet syndrome	PASM
652	6323	SCN1A	hg19 2:166859043-166859043 hg38 2:166002533-166002533	NC_000002.11:g.166859043 C>T	Dravet syndrome	PASM
653	6323	SCN1A	hg19 2:166915194-166915194 hg38 2:166058684-166058684	NC_000002.11:g.166915194 A>G	Dravet syndrome	PASM
654	6323	SCN1A	hg19 2:166894396-166894396 hg38 2:166037886-166037886	NC_000002.11:g.166894396 G>A	Dravet syndrome	PASM
655	6323	SCN1A	hg19 2:166894554-166894554 hg38 2:166038044-166038044	NC_000002.11:g.166894554 A>T	Dravet syndrome	PASM
656	6323	SCN1A	hg19 2:166901776-166901776 hg38 2:166045266-166045266	NC_000002.11:g.166901776_166901776 del	Dravet syndrome	PASM
657	6323	SCN1A	hg19 2:166904189-166904189 hg38 2:166047679-166047679	NC_000002.11:g.166904189_166904189 del	Dravet syndrome	PASM
658	6323	SCN1A	hg19 2:166854673-166854673 hg38 2:165998163-165998163	NC_000002.11:g.166854673 G>T	Dravet syndrome	PASM
659	6323	SCN1A	hg19 2:166894639-166894639 hg38 2:166038129-166038129	NC_000002.11:g.166894639 G>A	Dravet syndrome	PASM
660	6323	SCN1A	hg19 2:166848782-166848782 hg38 2:165992272-165992272	NC_000002.11:g.166848782 G>C	Dravet syndrome	PASM
661	6323	SCN1A	hg19 2:166856269-166856269 hg38 2:165999759-165999759	NC_000002.11:g.166856269 C>T	Dravet syndrome	PASM
699	57526	PCDH19	hg19 X:99662991-99662991 hg38 X:100407993-100407993	NC_000023.10:g.99662991 G>T	EIEE9	Exome Sequencing
22178	57526	PCDH19	hg19 X:99599151-99599151 hg38 X:100344153-100344153	NC_000023.10:g.99599151 G>A	Asymptomatic	HiSeq X Ten
22606	6323	SCN1A	hg19 2:166927525-166927525 hg38 2:166071015-166071015	NC_000002.11:g.166927525 G>A	Asymptomatic	Single cell Sequencing Cell cloning
24227	57526	PCDH19	hg19 X:99794531-99794531 hg38 X:100539534-100539534	NC_000023.10:g.99794531 T>A	Asymptomatic	Single cell Sequencing Cell cloning
24241	57526	PCDH19	hg19 X:99602786-99602786 hg38 X:100347788-100347788	NC_000023.10:g.99602786 C>A	Asymptomatic	Single cell Sequencing Cell cloning
29947	6323	SCN1A	hg19 2:166904194-166904194 hg38 2:166047684-166047684	NC_000002.11:g.166904194_166904194 del	Dravet syndrome	Sanger mDDPCR PASM
29948	6323	SCN1A	hg19 2:166894639-166894639 hg38 2:166038129-166038129	NC_000002.11:g.166894639 C>T	Dravet syndrome	Sanger mDDPCR PASM
29949	6323	SCN1A	hg19 2:166848438-166848438 hg38 2:165991928-165991928	NC_000002.11:g.166848438 G>A	Dravet syndrome	Sanger mDDPCR PASM
29950	6323	SCN1A	hg19 2:166848230-166848230 hg38 2:165991720-165991720	NC_000002.11:g.166848230 T>C	Dravet syndrome	Sanger mDDPCR PASM
29951	6323	SCN1A	hg19 2:166894396-166894396 hg38 2:166037886-166037886	NC_000002.11:g.166894396 C>T	Dravet syndrome	Sanger mDDPCR PASM
29952	6323	SCN1A	hg19 2:166894440-166894440 hg38 2:166037930-166037930	NC_000002.11:g.166894440 G>A	Dravet syndrome	Sanger mDDPCR PASM
29953	6323	SCN1A	hg19 2:166900371-166900371 hg38 2:166043861-166043861	NC_000002.11:g.166900371_166900371 del	Dravet syndrome	Sanger mDDPCR PASM
29954	6323	SCN1A	hg19 2:166895938-166895938 hg38 2:166039428-166039428	NC_000002.11:g.166895938 C>T	Dravet syndrome	Sanger mDDPCR PASM
29955	6323	SCN1A	hg19 2:166904178-166904178 hg38 2:166047668-166047668	NC_000002.11:g.166904178 C>T	Dravet syndrome	Sanger mDDPCR PASM
29956	6323	SCN1A	hg19 2:166852541-166852541 hg38 2:165996031-165996031	NC_000002.11:g.166852541_166852541 del	Dravet syndrome	Sanger mDDPCR PASM
29957	6323	SCN1A	hg19 2:166894440-166894440 hg38 2:166037930-166037930	NC_000002.11:g.166894440 G>A	Dravet syndrome	Sanger mDDPCR PASM
29958	6323	SCN1A	hg19 2:166848852-166848852 hg38 2:165992342-165992342	NC_000002.11:g.166848852 C>T	Dravet syndrome	Sanger mDDPCR PASM
29959	6323	SCN1A	hg19 2:166915194-166915194 hg38 2:166058684-166058684	NC_000002.11:g.166915194 T>C	Dravet syndrome	Sanger mDDPCR PASM
29960	6323	SCN1A	hg19 2:166868765-166868765 hg38 2:166012255-166012255	NC_000002.11:g.166868765 C>T	Dravet syndrome	Sanger mDDPCR PASM
29961	6323	SCN1A	hg19 2:166866246-166866246 hg38 2:166009736-166009736	NC_000002.11:g.166866246 C>T	Dravet syndrome	Sanger mDDPCR PASM
29962	6323	SCN1A	hg19 2:166892659-166892659 hg38 2:166036149-166036149	NC_000002.11:g.166892659_166892659 del	Dravet syndrome	Sanger mDDPCR PASM
29963	6323	SCN1A	hg19 2:166904273-166904273 hg38 2:166047763-166047763	NC_000002.11:g.166904273 C>T	Dravet syndrome	Sanger mDDPCR PASM
29964	6323	SCN1A	hg19 2:166911262-166911262 hg38 2:166054752-166054752	NC_000002.11:g.166911262 C>T	Dravet syndrome	Sanger mDDPCR PASM
29965	6323	SCN1A	hg19 2:166848782-166848782 hg38 2:165992272-165992272	NC_000002.11:g.166848782 C>G	Dravet syndrome	Sanger mDDPCR PASM
29966	6323	SCN1A	hg19 2:166904178-166904178 hg38 2:166047668-166047668	NC_000002.11:g.166904178 C>T	Dravet syndrome	Sanger mDDPCR PASM
29967	6323	SCN1A	hg19 2:166901753-166901753 hg38 2:166045243-166045243	NC_000002.11:g.166901753_166901753 del	Dravet syndrome	Sanger mDDPCR PASM
29968	6323	SCN1A	hg19 2:166905453-166905453 hg38 2:166048943-166048943	NC_000002.11:g.166905453 A>C	Dravet syndrome	Sanger mDDPCR PASM
29969	6323	SCN1A	hg19 2:166868765-166868765 hg38 2:166012255-166012255	NC_000002.11:g.166868765 C>T	Dravet syndrome	Sanger mDDPCR PASM
29970	6323	SCN1A	hg19 2:166894396-166894396 hg38 2:166037886-166037886	NC_000002.11:g.166894396 C>T	Dravet syndrome	Sanger mDDPCR PASM
29971	6323	SCN1A	hg19 2:166859043-166859043 hg38 2:166002533-166002533	NC_000002.11:g.166859043 G>A	Dravet syndrome	Sanger mDDPCR PASM
29972	6323	SCN1A	hg19 2:166898844-166898844 hg38 2:166042334-166042334	NC_000002.11:g.166898844 C>T	Dravet syndrome	Sanger mDDPCR PASM
29973	6323	SCN1A	hg19 2:166848864-166848864 hg38 2:165992354-165992354	NC_000002.11:g.166848864 G>A	Dravet syndrome	Sanger mDDPCR PASM
29974	6323	SCN1A	hg19 2:166854686-166854686 hg38 2:165998176-165998176	NC_000002.11:g.166854686 G>A	Dravet syndrome	Sanger mDDPCR PASM
29975	6323	SCN1A	hg19 2:166894436-166894436 hg38 2:166037926-166037926	NC_000002.11:g.166894436 C>G	Dravet syndrome	Sanger mDDPCR PASM
29976	6323	SCN1A	hg19 2:166872120-166872120 hg38 2:166015610-166015610	NC_000002.11:g.166872120_166872120 del	Dravet syndrome	Sanger mDDPCR PASM
29977	6323	SCN1A	hg19 2:166900385-166900385 hg38 2:166043875-166043875	NC_000002.11:g.166900385 G>A	Dravet syndrome	Sanger mDDPCR PASM
30173	6323	SCN1A	hg19 2:166915162-166915162 hg38 2:166058652-166058652	NC_000002.11:g.166915162 G>A	Dravet syndrome	smMIP
30174	6323	SCN1A	hg19 2:166852557-166852557 hg38 2:165996047-165996047	NC_000002.11:g.166852557 G>T	Dravet syndrome	smMIP
30175	6323	SCN1A	hg19 2:166854574-166854574 hg38 2:165998064-165998064	NC_000002.11:g.166854574 CT>C	Dravet syndrome	smMIP
30187	57526	PCDH19	hg19 X:99662867-99662867 hg38 X:100407869-100407869	NC_000023.10:g.99662867 G>T	Developmental and epileptic encephalopathy	smMIP
30197	57526	PCDH19	hg19 X:99661637-99661640 hg38 X:100406639-100406642	NC_000023.10:g.99661637_99661640 del	EIEE9	Custom capture
30198	57526	PCDH19	hg19 X:99662962-99662962 hg38 X:100407964-100407964	NC_000023.10:g.99662962 G>C	EIEE9	Raindance Emulsion PCR
30199	57526	PCDH19	hg19 X:99605642-99605642 hg38 X:100350644-100350644	NC_000023.10:g.99605642 T>C	EIEE9	Raindance Emulsion PCR
30200	57526	PCDH19	hg19 X:99661447-99661447 hg38 X:100406449-100406449	NC_000023.10:g.99661447 T>C	EIEE9	Custom capture
30201	57526	PCDH19	hg19 X:99661723-99661723 hg38 X:100406725-100406725	NC_000023.10:g.99661723 A>G	EIEE9	Raindance Emulsion PCR
30202	57526	PCDH19	hg19 X:99663226-99663226 hg38 X:100408228-100408228	NC_000023.10:g.99663226 G>C	EIEE9	Raindance Emulsion PCR
30208	6323	SCN1A	hg19 2:166852531-166852531 hg38 2:165996021-165996021	NC_000002.11:g.166852531 C>T	EIEE6	Raindance Emulsion PCR
30209	6323	SCN1A	hg19 2:166915131-166915131 hg38 2:166058621-166058621	NC_000002.11:g.166915131 T>A	EIEE6	Custom capture
30210	6323	SCN1A	hg19 2:166903453-166903453 hg38 2:166046943-166046943	NC_000002.11:g.166903453 T>C	EIEE6	Custom capture
30211	6323	SCN1A	hg19 2:166929992-166929992 hg38 2:166073482-166073482	NC_000002.11:g.166929992_166929992 del	EIEE6	Raindance Emulsion PCR
30220	6323	SCN1A	hg19 2:166909399-166909434 hg38 2:166052889-166052924	NC_000002.11:g.166909399_166909434 del	Dravet syndrome	smMIP
30221	6323	SCN1A	hg19 2:166872240-166872240 hg38 2:166015730-166015730	NC_000002.11:g.166872240 G>C	GEFS Plus	smMIP
30222	6323	SCN1A	hg19 2:166848592-166848592 hg38 2:165992082-165992082	NC_000002.11:g.166848592_166848592 del	Dravet syndrome	smMIP DDPCR
30223	6323	SCN1A	hg19 2:166848437-166848437 hg38 2:165991927-165991927	NC_000002.11:g.166848437 G>A	Dravet syndrome	smMIP
30225	6323	SCN1A	hg19 2:166905442-166905442 hg38 2:166048932-166048932	NC_000002.11:g.166905442 G>GG	Dravet syndrome	smMIP DDPCR
30226	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	smMIP DDPCR
30227	6323	SCN1A	hg19 2:166901678-166901678 hg38 2:166045168-166045168	NC_000002.11:g.166901678_166901678 del	Dravet syndrome	smMIP
30228	6323	SCN1A	hg19 2:166858991-166859004 hg38 2:166002481-166002494	NC_000002.11:g.166858991_166859004 del	Dravet syndrome	smMIP
30229	6323	SCN1A	hg19 2:166866352-166866352 hg38 2:166009842-166009842	NC_000002.11:g.166866352_166866352 del	Asymptomatic	DDPCR
30230	6323	SCN1A	hg19 2:166909454-166909454 hg38 2:166052944-166052944	NC_000002.11:g.166909454_166909454 del	Asymptomatic	smMIP
30231	57526	PCDH19	hg19 X:99661447-99661447 hg38 X:100406449-100406449	NC_000023.10:g.99661447 A>G	EIEE9	Sanger
30232	57526	PCDH19	hg19 X:99662244-99662244 hg38 X:100407246-100407246	NC_000023.10:g.99662244 G>A	EIEE9	Trueseq Amplicon
30233	57526	PCDH19	hg19 X:99662991-99662991 hg38 X:100407993-100407993	NC_000023.10:g.99662991 G>T	EIEE9	Trueseq Amplicon
30234	57526	PCDH19	hg19 X:99661732-99661732 hg38 X:100406734-100406734	NC_000023.10:g.99661732 C>G	EIEE9	NGS gene panel
30235	57526	PCDH19	hg19 X:99662756-99662756 hg38 X:100407758-100407758	NC_000023.10:g.99662756 G>C	EIEE9	NGS gene panel
30236	57526	PCDH19	hg19 X:99663134-99663134 hg38 X:100408136-100408136	NC_000023.10:g.99663134 G>C	EIEE9	NGS gene panel
30237	57526	PCDH19	hg19 X:99661914-99661914 hg38 X:100406916-100406916	NC_000023.10:g.99661914 G>C	EIEE9	NGS gene panel
30238	57526	PCDH19	hg19 X:99662797-99662797 hg38 X:100407799-100407799	NC_000023.10:g.99662797 C>A	EIEE9	NGS gene panel
30897	6323	SCN1A	hg19 2:166870410-166870410 hg38 2:166013900-166013900	NC_000002.11:g.166870410 T>A	Asymptomatic	NGS gene panel
30898	6323	SCN1A	hg19 2:166852556-166852556 hg38 2:165996046-165996046	NC_000002.11:g.166852556 C>T	Asymptomatic	NGS gene panel
30899	6323	SCN1A	hg19 2:166856286-166856286 hg38 2:165999776-165999776	NC_000002.11:g.166856286 C>T	Asymptomatic	NGS gene panel
30900	6323	SCN1A	hg19 2:166901794-166901794 hg38 2:166045284-166045284	NC_000002.11:g.166901794 C>T	Asymptomatic	NGS gene panel
30901	6323	SCN1A	hg19 2:166900476-166900476 hg38 2:166043966-166043966	NC_000002.11:g.166900476 C>T	Asymptomatic	NGS gene panel
30902	6323	SCN1A	hg19 2:166929947-166929948 hg38 2:166073437-166073438	NC_000002.11:g.166929947 GG>AA	Asymptomatic	NGS gene panel
30903	6323	SCN1A	hg19 2:166872124-166872124 hg38 2:166015614-166015614	NC_000002.11:g.166872124 G>A	Asymptomatic	NGS gene panel
30904	6323	SCN1A	hg19 2:166908432-166908432 hg38 2:166051922-166051922	NC_000002.11:g.166908432 G>A	Asymptomatic	NGS gene panel
30905	6323	SCN1A	hg19 2:166911272-166911272 hg38 2:166054762-166054762	NC_000002.11:g.166911272 T>C	Asymptomatic	NGS gene panel
30906	6323	SCN1A	hg19 2:166911272-166911272 hg38 2:166054762-166054762	NC_000002.11:g.166911272 T>C	Asymptomatic	NGS gene panel
30907	6323	SCN1A	hg19 2:166897930-166897930 hg38 2:166041420-166041420	NC_000002.11:g.166897930 G>A	Asymptomatic	NGS gene panel
30908	6323	SCN1A	hg19 2:166903467-166903467 hg38 2:166046957-166046957	NC_000002.11:g.166903467 T>A	Asymptomatic	NGS gene panel
30909	6323	SCN1A	hg19 2:166868758-166868758 hg38 2:166012248-166012248	NC_000002.11:g.166868758 G>A	Asymptomatic	NGS gene panel
30910	6323	SCN1A	hg19 2:166900229-166900229 hg38 2:166043719-166043719	NC_000002.11:g.166900229 C>A	Asymptomatic	NGS gene panel
30911	6323	SCN1A	hg19 2:166894463-166894463 hg38 2:166037953-166037953	NC_000002.11:g.166894463 G>C	Asymptomatic	NGS gene panel
30912	6323	SCN1A	hg19 2:166911190-166911190 hg38 2:166054680-166054680	NC_000002.11:g.166911190 C>T	Asymptomatic	NGS gene panel
30913	6323	SCN1A	hg19 2:166859057-166859057 hg38 2:166002547-166002547	NC_000002.11:g.166859057 A>G	Asymptomatic	NGS gene panel
30914	6323	SCN1A	hg19 2:166895993-166895993 hg38 2:166039483-166039483	NC_000002.11:g.166895993 G>C	Asymptomatic	NGS gene panel
30915	6323	SCN1A	hg19 2:166847830-166847830 hg38 2:165991320-165991320	NC_000002.11:g.166847830 G>T	Asymptomatic	NGS gene panel
30916	6323	SCN1A	hg19 2:166905454-166905454 hg38 2:166048944-166048944	NC_000002.11:g.166905454 G>A	Asymptomatic	NGS gene panel
30917	6323	SCN1A	hg19 2:166859046-166859046 hg38 2:166002536-166002536	NC_000002.11:g.166859046 C>T	Asymptomatic	NGS gene panel
30918	6323	SCN1A	hg19 2:166850697-166850697 hg38 2:165994187-165994187	NC_000002.11:g.166850697 C>T	Asymptomatic	NGS gene panel
30919	6323	SCN1A	hg19 2:166856265-166856265 hg38 2:165999755-165999755	NC_000002.11:g.166856265 C>T	Asymptomatic	NGS gene panel
30920	6323	SCN1A	hg19 2:166859141-166859141 hg38 2:166002631-166002631	NC_000002.11:g.166859141 G>A	Asymptomatic	NGS gene panel
30921	6323	SCN1A	hg19 2:166868684-166868684 hg38 2:166012174-166012174	NC_000002.11:g.166868684 C>T	Asymptomatic	NGS gene panel
30922	6323	SCN1A	hg19 2:166897871-166897871 hg38 2:166041361-166041361	NC_000002.11:g.166897871 T>C	Asymptomatic	NGS gene panel
30923	6323	SCN1A	hg19 2:166847761-166847761 hg38 2:165991251-165991251	NC_000002.11:g.166847761 C>T	Asymptomatic	NGS gene panel
32145	6323	SCN1A	hg19 2:166895972-166895972 hg38 2:166039462-166039462	NC_000002.11:g.166895972 G>T	Asymptomatic	NGS gene panel
32146	6323	SCN1A	hg19 2:166872137-166872137 hg38 2:166015627-166015627	NC_000002.11:g.166872137 G>T	Asymptomatic	NGS gene panel
32147	6323	SCN1A	hg19 2:166897895-166897895 hg38 2:166041385-166041385	NC_000002.11:g.166897895 C>A	Asymptomatic	NGS gene panel
32148	6323	SCN1A	hg19 2:166868705-166868705 hg38 2:166012195-166012195	NC_000002.11:g.166868705 G>A	Asymptomatic	NGS gene panel
32149	6323	SCN1A	hg19 2:166895990-166895990 hg38 2:166039480-166039480	NC_000002.11:g.166895990 C>A	Asymptomatic	NGS gene panel
32150	6323	SCN1A	hg19 2:166915193-166915193 hg38 2:166058683-166058683	NC_000002.11:g.166915193 A>T	Asymptomatic	NGS gene panel
32151	6323	SCN1A	hg19 2:166848557-166848557 hg38 2:165992047-165992047	NC_000002.11:g.166848557 G>T	Asymptomatic	NGS gene panel
32152	6323	SCN1A	hg19 2:166892770-166892770 hg38 2:166036260-166036260	NC_000002.11:g.166892770 G>C	Asymptomatic	NGS gene panel
32153	6323	SCN1A	hg19 2:166870343-166870343 hg38 2:166013833-166013833	NC_000002.11:g.166870343 T>A	Asymptomatic	NGS gene panel
32154	6323	SCN1A	hg19 2:166852595-166852595 hg38 2:165996085-165996085	NC_000002.11:g.166852595 T>C	Asymptomatic	NGS gene panel
32155	6323	SCN1A	hg19 2:166894550-166894550 hg38 2:166038040-166038040	NC_000002.11:g.166894550 G>T	Asymptomatic	NGS gene panel
32156	6323	SCN1A	hg19 2:166905460-166905460 hg38 2:166048950-166048950	NC_000002.11:g.166905460 C>T	Asymptomatic	NGS gene panel
32157	6323	SCN1A	hg19 2:166930041-166930041 hg38 2:166073531-166073531	NC_000002.11:g.166930041 C>T	Asymptomatic	NGS gene panel
32158	6323	SCN1A	hg19 2:166930104-166930104 hg38 2:166073594-166073594	NC_000002.11:g.166930104 C>T	Asymptomatic	NGS gene panel
32159	6323	SCN1A	hg19 2:166894453-166894453 hg38 2:166037943-166037943	NC_000002.11:g.166894453 A>T	Asymptomatic	NGS gene panel
32160	6323	SCN1A	hg19 2:166894453-166894453 hg38 2:166037943-166037943	NC_000002.11:g.166894453 A>T	Asymptomatic	NGS gene panel
32161	6323	SCN1A	hg19 2:166894453-166894453 hg38 2:166037943-166037943	NC_000002.11:g.166894453 A>T	Asymptomatic	NGS gene panel
32162	6323	SCN1A	hg19 2:166894453-166894453 hg38 2:166037943-166037943	NC_000002.11:g.166894453 A>T	Asymptomatic	NGS gene panel
32163	6323	SCN1A	hg19 2:166894453-166894453 hg38 2:166037943-166037943	NC_000002.11:g.166894453 A>T	Asymptomatic	NGS gene panel
32164	6323	SCN1A	hg19 2:166900483-166900483 hg38 2:166043973-166043973	NC_000002.11:g.166900483 C>T	Asymptomatic	NGS gene panel
32165	6323	SCN1A	hg19 2:166930080-166930080 hg38 2:166073570-166073570	NC_000002.11:g.166930080 T>G	Asymptomatic	NGS gene panel
32166	6323	SCN1A	hg19 2:166897877-166897877 hg38 2:166041367-166041367	NC_000002.11:g.166897877 A>G	Asymptomatic	NGS gene panel
32167	6323	SCN1A	hg19 2:166901820-166901820 hg38 2:166045310-166045310	NC_000002.11:g.166901820 A>T	Asymptomatic	NGS gene panel
32168	6323	SCN1A	hg19 2:166900470-166900470 hg38 2:166043960-166043960	NC_000002.11:g.166900470 C>T	Asymptomatic	NGS gene panel
32169	6323	SCN1A	hg19 2:166892923-166892923 hg38 2:166036413-166036413	NC_000002.11:g.166892923 C>T	Asymptomatic	NGS gene panel
32170	6323	SCN1A	hg19 2:166901820-166901820 hg38 2:166045310-166045310	NC_000002.11:g.166901820 A>T	Asymptomatic	NGS gene panel
32171	6323	SCN1A	hg19 2:166847852-166847852 hg38 2:165991342-165991342	NC_000002.11:g.166847852 G>A	Asymptomatic	NGS gene panel
32172	6323	SCN1A	hg19 2:166847852-166847852 hg38 2:165991342-165991342	NC_000002.11:g.166847852 G>A	Asymptomatic	NGS gene panel
32173	6323	SCN1A	hg19 2:166852571-166852571 hg38 2:165996061-165996061	NC_000002.11:g.166852571 C>T	Asymptomatic	NGS gene panel
32174	6323	SCN1A	hg19 2:166896034-166896034 hg38 2:166039524-166039524	NC_000002.11:g.166896034 C>-	Asymptomatic	NGS gene panel
32175	6323	SCN1A	hg19 2:166911221-166911221 hg38 2:166054711-166054711	NC_000002.11:g.166911221 C>T	Asymptomatic	NGS gene panel
32176	6323	SCN1A	hg19 2:166900231-166900231 hg38 2:166043721-166043721	NC_000002.11:g.166900231 A>G	Asymptomatic	NGS gene panel
32177	6323	SCN1A	hg19 2:166901827-166901827 hg38 2:166045317-166045317	NC_000002.11:g.166901827 G>A	Asymptomatic	NGS gene panel
32178	6323	SCN1A	hg19 2:166900231-166900231 hg38 2:166043721-166043721	NC_000002.11:g.166900231 A>G	Asymptomatic	NGS gene panel
32179	6323	SCN1A	hg19 2:166859089-166859089 hg38 2:166002579-166002579	NC_000002.11:g.166859089 G>A	Asymptomatic	NGS gene panel
32180	6323	SCN1A	hg19 2:166897855-166897855 hg38 2:166041345-166041345	NC_000002.11:g.166897855 G>C	Asymptomatic	NGS gene panel
32181	6323	SCN1A	hg19 2:166892909-166892909 hg38 2:166036399-166036399	NC_000002.11:g.166892909 C>T	Asymptomatic	NGS gene panel
32182	6323	SCN1A	hg19 2:166892909-166892909 hg38 2:166036399-166036399	NC_000002.11:g.166892909 C>T	Asymptomatic	NGS gene panel
32183	6323	SCN1A	hg19 2:166930114-166930114 hg38 2:166073604-166073604	NC_000002.11:g.166930114 A>C	Asymptomatic	NGS gene panel
32184	6323	SCN1A	hg19 2:166900526-166900526 hg38 2:166044016-166044016	NC_000002.11:g.166900526 G>A	Asymptomatic	NGS gene panel
32185	6323	SCN1A	hg19 2:166900526-166900526 hg38 2:166044016-166044016	NC_000002.11:g.166900526 G>A	Asymptomatic	NGS gene panel
32186	6323	SCN1A	hg19 2:166900526-166900526 hg38 2:166044016-166044016	NC_000002.11:g.166900526 G>A	Asymptomatic	NGS gene panel
32187	6323	SCN1A	hg19 2:166903430-166903430 hg38 2:166046920-166046920	NC_000002.11:g.166903430 C>G	Asymptomatic	NGS gene panel
32188	6323	SCN1A	hg19 2:166900305-166900305 hg38 2:166043795-166043795	NC_000002.11:g.166900305 C>T	Asymptomatic	NGS gene panel
33500	6323	SCN1A	hg19 2:166930021-166930021 hg38 2:166073511-166073511	NC_000002.11:g.166930021 G>A	Asymptomatic	NGS gene panel
33501	6323	SCN1A	hg19 2:166908378-166908378 hg38 2:166051868-166051868	NC_000002.11:g.166908378 T>C	Asymptomatic	NGS gene panel
33502	6323	SCN1A	hg19 2:166904265-166904265 hg38 2:166047755-166047755	NC_000002.11:g.166904265 C>T	Asymptomatic	NGS gene panel
33503	6323	SCN1A	hg19 2:166896095-166896095 hg38 2:166039585-166039585	NC_000002.11:g.166896095 C>T	Asymptomatic	NGS gene panel
33504	6323	SCN1A	hg19 2:166908371-166908371 hg38 2:166051861-166051861	NC_000002.11:g.166908371 C>T	Asymptomatic	NGS gene panel
33505	6323	SCN1A	hg19 2:166896095-166896095 hg38 2:166039585-166039585	NC_000002.11:g.166896095 C>T	Asymptomatic	NGS gene panel
33506	6323	SCN1A	hg19 2:166898891-166898891 hg38 2:166042381-166042381	NC_000002.11:g.166898891 G>A	Asymptomatic	NGS gene panel
33507	6323	SCN1A	hg19 2:166900427-166900427 hg38 2:166043917-166043917	NC_000002.11:g.166900427 C>G	Asymptomatic	NGS gene panel
33508	6323	SCN1A	hg19 2:166901645-166901645 hg38 2:166045135-166045135	NC_000002.11:g.166901645 C>T	Asymptomatic	NGS gene panel
33509	6323	SCN1A	hg19 2:166915177-166915177 hg38 2:166058667-166058667	NC_000002.11:g.166915177 C>T	Asymptomatic	NGS gene panel
33510	6323	SCN1A	hg19 2:166850785-166850785 hg38 2:165994275-165994275	NC_000002.11:g.166850785 G>A	Asymptomatic	NGS gene panel
33511	6323	SCN1A	hg19 2:166911189-166911189 hg38 2:166054679-166054679	NC_000002.11:g.166911189 C>T	Asymptomatic	NGS gene panel
33512	6323	SCN1A	hg19 2:166904264-166904264 hg38 2:166047754-166047754	NC_000002.11:g.166904264 C>T	Asymptomatic	NGS gene panel
33513	6323	SCN1A	hg19 2:166866240-166866240 hg38 2:166009730-166009730	NC_000002.11:g.166866240 C>T	Asymptomatic	NGS gene panel
33514	6323	SCN1A	hg19 2:166911220-166911221 hg38 2:166054710-166054711	NC_000002.11:g.166911220 CC>TT	Asymptomatic	NGS gene panel
33515	6323	SCN1A	hg19 2:166866245-166866245 hg38 2:166009735-166009735	NC_000002.11:g.166866245 C>T	Asymptomatic	NGS gene panel
33516	6323	SCN1A	hg19 2:166900523-166900523 hg38 2:166044013-166044013	NC_000002.11:g.166900523 T>A	Asymptomatic	NGS gene panel
33517	6323	SCN1A	hg19 2:166870272-166870272 hg38 2:166013762-166013762	NC_000002.11:g.166870272 G>A	Asymptomatic	NGS gene panel
33518	6323	SCN1A	hg19 2:166900370-166900370 hg38 2:166043860-166043860	NC_000002.11:g.166900370 G>A	Asymptomatic	NGS gene panel
33519	6323	SCN1A	hg19 2:166908372-166908372 hg38 2:166051862-166051862	NC_000002.11:g.166908372 C>T	Asymptomatic	NGS gene panel
34119	6323	SCN1A	hg19 2:166905453-166905453 hg38 2:166048943-166048943	NC_000002.11:g.166905453 T>G	Asymptomatic	NGS gene panel
34243	6323	SCN1A	hg19 2:166848782-166848782 hg38 2:165992272-165992272	NC_000002.11:g.166848782 G>C	Dravet syndrome	Whole Genome Sequencing Pyrosequencing Sanger Sequencing
34247	6323	SCN1A	hg19 2:166854673-166854673 hg38 2:165998163-165998163	NC_000002.11:g.166854673 G>T	Dravet syndrome	Whole Genome Sequencing Pyrosequencing Sanger Sequencing
34617	57526	PCDH19	hg19 X:99566266-99566266 hg38 X:100311268-100311268	NC_000023.10:g.99566266 A>G	Asymptomatic	Whole Genome Sequencing Ion Torrent PGM Sequencing
34643	6323	SCN1A	hg19 2:166903479-166903479 hg38 2:166046969-166046969	NC_000002.11:g.166903479 C>T	Dravet syndrome	Whole Exome Sequencing Sanger Sequencing