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
|
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
|
639 |
6323 |
SCN1A |
hg19 2:166911148-166911148
hg38 2:166054638-166054638 |
NC_000002.11:g.166911148 C>T |
Autism Spectrum Disorders
|
HiSeq 2000
|
647 |
6323 |
SCN1A |
hg19 2:166904137-166904137
hg38 2:166047627-166047627 |
NC_000002.11:g.166904137 C>A |
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
|
29947 |
6323 |
SCN1A |
hg19 2:166904194-166904194
hg38 2:166047684-166047684 |
NC_000002.11:g.166904194_166904194 del |
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
|
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
|
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
|
30210 |
6323 |
SCN1A |
hg19 2:166903453-166903453
hg38 2:166046943-166046943 |
NC_000002.11:g.166903453 T>C |
EIEE6
|
Custom capture
|
30220 |
6323 |
SCN1A |
hg19 2:166909399-166909434
hg38 2:166052889-166052924 |
NC_000002.11:g.166909399_166909434 del |
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
|
30230 |
6323 |
SCN1A |
hg19 2:166909454-166909454
hg38 2:166052944-166052944 |
NC_000002.11:g.166909454_166909454 del |
Asymptomatic
|
smMIP
|
30900 |
6323 |
SCN1A |
hg19 2:166901794-166901794
hg38 2:166045284-166045284 |
NC_000002.11:g.166901794 C>T |
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
|
30908 |
6323 |
SCN1A |
hg19 2:166903467-166903467
hg38 2:166046957-166046957 |
NC_000002.11:g.166903467 T>A |
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
|
30916 |
6323 |
SCN1A |
hg19 2:166905454-166905454
hg38 2:166048944-166048944 |
NC_000002.11:g.166905454 G>A |
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
|
32167 |
6323 |
SCN1A |
hg19 2:166901820-166901820
hg38 2:166045310-166045310 |
NC_000002.11:g.166901820 A>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
|
32175 |
6323 |
SCN1A |
hg19 2:166911221-166911221
hg38 2:166054711-166054711 |
NC_000002.11:g.166911221 C>T |
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
|
32187 |
6323 |
SCN1A |
hg19 2:166903430-166903430
hg38 2:166046920-166046920 |
NC_000002.11:g.166903430 C>G |
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
|
33504 |
6323 |
SCN1A |
hg19 2:166908371-166908371
hg38 2:166051861-166051861 |
NC_000002.11:g.166908371 C>T |
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
|
33514 |
6323 |
SCN1A |
hg19 2:166911220-166911221
hg38 2:166054710-166054711 |
NC_000002.11:g.166911220 CC>TT |
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
|
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
|