ss974514528 |
51217451 |
Novel |
Upstream |
Non coding |
|
CTGGGACCCC G/A GGGCCCAGTG |
AA, Br, Cr, He, Lim, Ne, Sho, Wa |
|
Ho |
rs210602748 |
51217544 |
Reported |
Exon 1 |
Missense |
Arg × His |
ATGGACCTGC G/A CACCATGACA |
AA, Cr, He, Ho, Lim, Sho, Wa |
|
Br, Ne |
rs211620292 |
51217620 |
Reported |
Exon 1 |
Synonymous |
|
CCGGGGAGAC G/A GCCCGGCGGC |
He, Ne, Sho, Wa |
|
AA, Br, Cr, Ho, Lim |
rs208278382 |
51217635 |
Reported |
Exon 1 |
Synonymous |
|
GGCGGCTGAC G/A GGCGTCTTTG |
AA, Cr, He, Ho, Lim, Sho, Wa |
Ne |
Br |
rs41887418 |
51217809 |
Reported |
Exon 1 |
Synonymous |
|
AATCGCGCTA T/C GTGGCCTCCA |
Wa |
Ne |
AA, Br, Cr, He, Ho, Lim, Sho |
rs209811676 |
51217959 |
Reported |
Exon 1 |
Synonymous |
|
GGCTCTTCTT T/C GAGGGTGATG |
AA, Cr, He, Ho, Lim, Sho, Wa |
|
Br, Ne |
ss974514534 |
51220859 |
Novel |
Intron 3 |
Non coding |
|
GGGCCCAGGG C/A GGGCACAGGA |
AA, Br, Cr, He, Ho, Lim, Sho, Wa |
|
Ne |
ss974514535 |
51220921 |
Novel |
Intron 3 |
Non coding |
|
GGACCCCTGC C/A AGCAGTTCCT |
AA, Cr, He, Ho, Lim, Sho, Wa |
|
Br, Ne |
rs207891334 |
51221010 |
Reported |
Exon 4 |
Synonymous |
|
GCCTGCCACC C/T GTCGCCTTTG |
AA, Cr, He, Ho, Lim, Sho, Wa |
|
Br, Ne |
rs109759779 |
51221527 |
Reported |
Exon 5 |
Synonymous |
|
CCCTGGCCCC C/A GAGGCCCCCT |
Br, Ne, Wa |
|
AA, Cr, He, Ho, Lim, Sho |
rs133711876 |
51222749 |
Reported |
Intron 6 |
Non coding |
|
TTGAGACTGG G/A CCCAGAAAGA |
Br, Ne, Wa |
|
AA, Cr, He, Ho, Sho |
rs41887412 |
51222768 |
Reported |
Intron 6 |
Non coding |
|
GAGAGGAGAC T/C AACTCACCCA |
Br, Ne, Wa |
|
AA, Cr, He, Ho, Sho |
rs109598915 |
51222827 |
Reported |
Exon 7 |
Missense |
Asp × Ala |
GACCACCCCG A/C CTCAGACCAG |
Br, Ne, Wa |
|
AA, Cr, He, Ho, Lime, Sho |
ss974514541 |
51222849 |
Novel |
Exon 7 |
Synonymous |
|
AGGCGCTGGG T/C GTGATGGGGC |
AA, Cr, He, Ho, Lim, Sho, Wa |
|
Br, Ne |
rs41887411 |
51222864 |
Reported |
Exon 7 |
Synonymous |
|
TGGGGCTCGT A/G CAGCGGGACA |
AA, Lim |
Br, Ne |
Cr, He, Ho, Sho, Wa |
ss974514543 |
51222900 |
Novel |
Exon 7 |
Synonymous |
|
GAGACCTCCG G/C CTGGGCGCCT |
AA, Cr, He, Ho, Lim, Sho, Wa |
Br, Ne |
|
rs41887408 |
51226081 |
Reported |
Exon 8 |
Missense |
Arg × Gln |
GCCCTGACCC G/A GCCGGAGGGC |
|
|
AA, Br, Cr, He, Ho, Lim, Ne, Sho, Wa |
rs41887407 |
51226092 |
Reported |
Exon 8 |
Missense |
Pro × Ser |
GCCGGAGGGC C/T CACTGGGAAC |
Ne, Wa |
|
AA, Br, Cr, He, Ho, Lim, Sho |
rs211581461 |
51226221 |
Reported |
Exon 8 |
Missense |
Ile × Val |
ACCCTCAACC A/G TCAACTTCTT |
He, Ho, Ne, Sho, Wa |
|
AA, Br, Cr, Lim |
rs41887406 |
51226263 |
Reported |
Exon 8 |
Missense |
Glu × Lys |
TGAAATGTCT G/A AGGCCCCAGA |
Br, Ne, Wa |
|
AA, Cr, He, Ho, Lim, Sho |
rs41887404 |
51226856 |
Reported |
Intron 8 |
Non coding |
|
CCCCGCCCCC [G/A] CAGGCCTGCG |
|
|
Cr, Sho * |