SNP |
Position |
Effect |
Amino acid change |
T/G |
48119923 |
stop_lost&splice_region_variant |
p.Ter242Cysext*? |
G/A |
48119954 |
missense_variant |
p.Ala232Val |
T/*,C |
48119964 |
missense_variant |
p.Lys229Glu |
G/C |
48119967 |
missense_variant |
p.Leu228Val |
C/G |
48119991 |
missense_variant |
p.Val220Leu |
G/A |
48119996 |
missense_variant |
p.Thr218Ile |
C/G |
48120001 |
missense_variant |
p.Trp216Cys |
C/T |
48120002 |
stop_gained |
p.Trp216* |
T/C |
48120035 |
missense_variant |
p.Glu205Gly |
C/T |
48120051 |
missense_variant |
p.Glu200Lys |
C/A |
48120074 |
missense_variant |
p.Ser192Ile |
A/G |
48120095 |
missense_variant |
p.Ile185Thr |
T/A |
48120111 |
upstream_gene_variant |
|
G/A |
48120144 |
upstream_gene_variant |
|
G/T |
48120160 |
upstream_gene_variant |
|
C/T |
48120195 |
upstream_gene_variant |
|
A/C |
48120202 |
upstream_gene_variant |
|
G/A |
48120205 |
upstream_gene_variant |
|
G/A |
48120206 |
upstream_gene_variant |
|
T/A |
48120218 |
upstream_gene_variant |
|
A/T |
48120226 |
upstream_gene_variant |
|
A/G |
48120232 |
upstream_gene_variant |
|
G/C |
48120280 |
upstream_gene_variant |
|
G/A |
48120282 |
upstream_gene_variant |
|
G/C |
48120285 |
upstream_gene_variant |
|
A/T |
48120301 |
upstream_gene_variant |
|
G/A |
48120307 |
upstream_gene_variant |
|
G/A |
48120325 |
upstream_gene_variant |
|
T/A |
48120327 |
upstream_gene_variant |
|
C/T |
48120330 |
upstream_gene_variant |
|
T/C |
48120331 |
upstream_gene_variant |
|
A/C |
48120371 |
upstream_gene_variant |
|
T/C |
48120378 |
upstream_gene_variant |
|
T/C |
48120463 |
upstream_gene_variant |
|
T/C |
48120472 |
upstream_gene_variant |
|
G/C |
48120503 |
upstream_gene_variant |
|
A/T |
48120531 |
upstream_gene_variant |
|
C/T |
48120552 |
upstream_gene_variant |
|
G/A |
48120555 |
upstream_gene_variant |
|
G/A |
48120557 |
upstream_gene_variant |
|
G/C |
48120572 |
upstream_gene_variant |
|
A/C |
48120616 |
upstream_gene_variant |
|
T/A |
48120637 |
upstream_gene_variant |
|
A/G |
48120648 |
upstream_gene_variant |
|
A/T |
48120652 |
upstream_gene_variant |
|
A/T |
48120658 |
upstream_gene_variant |
|
C/T |
48120670 |
upstream_gene_variant |
|
A/T |
48120684 |
upstream_gene_variant |
|
T/C |
48120687 |
upstream_gene_variant |
|
C/G |
48120696 |
upstream_gene_variant |
|
C/A |
48120704 |
upstream_gene_variant |
|
G/A |
48120727 |
missense_variant&splice_region_variant |
p.Pro183Leu |
A/T |
48120736 |
missense_variant |
p.Phe180Tyr |
C/T |
48120740 |
missense_variant |
p.Ala179Thr |
T/C |
48120746 |
missense_variant |
p.Lys177Glu |
G/T |
48120747 |
stop_gained |
p.Cys176* |
C/T |
48120755 |
missense_variant |
p.Ala174Thr |
C/T |
48120768 |
synonymous_variant |
p.Gln169Gln |
G/A |
48120770 |
stop_gained |
p.Gln169* |
T/C |
48120797 |
splice_region_variant&intron_variant |
|
G/A |
48120798 |
splice_region_variant&intron_variant |
|
T/C |
48120829 |
upstream_gene_variant |
|
G/A |
48120840 |
upstream_gene_variant |
|
A/G |
48120863 |
upstream_gene_variant |
|
G/T |
48120881 |
missense_variant |
p.Leu160Ile |
C/A |
48120920 |
missense_variant |
p.Gly147Trp |
G/A |
48120937 |
missense_variant |
p.Ser141Leu |
T/A |
48120966 |
missense_variant |
p.Lys131Asn |
A/G,* |
48120989 |
missense_variant |
p.Ser124Pro |
C/T |
48120993 |
synonymous_variant |
p.Ser122Ser |
C/G |
48121048 |
missense_variant |
p.Ser104Thr |
A/T |
48121056 |
synonymous_variant |
p.Gly101Gly |
C/T |
48121058 |
missense_variant |
p.Gly101Ser |
C/A |
48121091 |
splice_region_variant&intron_variant |
|
G/A |
48121096 |
upstream_gene_variant |
|
C/T |
48121100 |
upstream_gene_variant |
|
C/T |
48121106 |
upstream_gene_variant |
|
T/G |
48121113 |
upstream_gene_variant |
|
C/T |
48121119 |
upstream_gene_variant |
|
C/A |
48121120 |
upstream_gene_variant |
|
T/C |
48121124 |
upstream_gene_variant |
|
C/T,* |
48121131 |
upstream_gene_variant |
|
T/A |
48121133 |
upstream_gene_variant |
|
T/C |
48121135 |
upstream_gene_variant |
|
A/G |
48121140 |
upstream_gene_variant |
|
A/G |
48121149 |
upstream_gene_variant |
|
T/C,* |
48121220 |
missense_variant |
p.Thr83Ala |
C/T |
48121235 |
missense_variant |
p.Val78Met |
G/A |
48121242 |
synonymous_variant |
p.Cys75Cys |
G/A |
48121253 |
stop_gained |
p.Arg72* |
G/A |
48121258 |
missense_variant |
p.Ala70Val |
C/T |
48121281 |
splice_acceptor_variant&intron_variant |
|
A/G |
48121284 |
splice_region_variant&intron_variant |
|
G/A |
48121287 |
splice_region_variant&intron_variant |
|
A/T |
48121306 |
upstream_gene_variant |
|
G/A |
48121312 |
upstream_gene_variant |
|
G/C |
48121320 |
upstream_gene_variant |
|
C/T |
48121322 |
upstream_gene_variant |
|
C/T |
48121328 |
upstream_gene_variant |
|
C/T |
48121333 |
upstream_gene_variant |
|
T/A |
48121334 |
upstream_gene_variant |
|
C/T |
48121343 |
splice_donor_variant&intron_variant |
|
C/T |
48121344 |
missense_variant&splice_region_variant |
p.Gly63Ser |
A/G,T |
48121345 |
splice_region_variant&synonymous_variant |
p.Gly62Gly |
C/T |
48121346 |
missense_variant&splice_region_variant |
p.Gly62Asp |
T/C |
48121353 |
missense_variant |
p.Thr60Ala |
G/A |
48121354 |
synonymous_variant |
p.Asp59Asp |
C/T |
48121356 |
missense_variant |
p.Asp59Asn |
G/A |
48121364 |
missense_variant |
p.Ala56Val |
C/T |
48121379 |
missense_variant |
p.Arg51Gln |
G/A |
48121380 |
missense_variant |
p.Arg51Trp |
C/T |
48121400 |
missense_variant |
p.Arg44His |
A/T |
48121408 |
synonymous_variant |
p.Gly41Gly |
C/T |
48121413 |
missense_variant |
p.Val40Ile |
T/C |
48121418 |
splice_acceptor_variant&intron_variant |
|
C/T |
48121423 |
splice_region_variant&intron_variant |
|
C/T |
48121427 |
upstream_gene_variant |
|
G/A |
48121429 |
upstream_gene_variant |
|
T/G |
48121442 |
upstream_gene_variant |
|
C/T |
48121456 |
upstream_gene_variant |
|
G/A |
48121458 |
upstream_gene_variant |
|
G/A |
48121463 |
upstream_gene_variant |
|
G/A |
48121471 |
upstream_gene_variant |
|
G/A |
48121475 |
upstream_gene_variant |
|
A/G |
48121477 |
upstream_gene_variant |
|
C/A |
48121485 |
upstream_gene_variant |
|
G/A |
48121489 |
upstream_gene_variant |
|
C/G |
48121502 |
splice_region_variant&intron_variant |
|
C/T |
48121507 |
splice_region_variant&synonymous_variant |
p.Ala38Ala |
C/T |
48121509 |
missense_variant&splice_region_variant |
p.Ala38Thr |
T/C |
48121539 |
missense_variant |
p.Arg28Gly |
T/C |
48121571 |
missense_variant |
p.Asp17Gly |
A/G |
48121582 |
synonymous_variant |
p.Ile13Ile |
A/G |
48121607 |
missense_variant |
p.Val5Ala |