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
|
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
|
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
|
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
|
30220 |
6323 |
SCN1A |
hg19 2:166909399-166909434
hg38 2:166052889-166052924 |
NC_000002.11:g.166909399_166909434 del |
Dravet syndrome
|
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
|
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
|
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
|