SNP |
Position |
Effect |
Amino acid change |
G/T |
13991193 |
missense_variant |
p.Pro833Thr |
G/A |
13991195 |
missense_variant |
p.Ser832Phe |
C/T |
13991204 |
missense_variant |
p.Arg829Lys |
G/T |
13991245 |
stop_gained |
p.Tyr815* |
A/C |
13991280 |
stop_lost |
p.Ter804Glyext*? |
C/T |
13991295 |
missense_variant |
p.Gly799Arg |
G/T |
13991344 |
synonymous_variant |
p.Ser782Ser |
G/A |
13991356 |
synonymous_variant |
p.Gly778Gly |
C/A |
13991357 |
missense_variant |
p.Gly778Val |
C/T |
13991375 |
missense_variant |
p.Ser772Asn |
G/A |
13991400 |
missense_variant |
p.Leu764Phe |
C/A |
13991409 |
stop_gained |
p.Gly761* |
C/G |
13991447 |
missense_variant |
p.Cys748Ser |
G/A |
13991449 |
synonymous_variant |
p.Asp747Asp |
A/G |
13991454 |
missense_variant |
p.Phe746Leu |
A/G |
13991475 |
missense_variant |
p.Tyr739His |
T/G |
13991478 |
missense_variant |
p.Thr738Pro |
T/C |
13991499 |
missense_variant |
p.Ser731Gly |
A/T |
13991541 |
missense_variant |
p.Trp717Arg |
A/G |
13991547 |
stop_lost |
p.Ter715Glnext*? |
A/T |
13991581 |
synonymous_variant |
p.Pro703Pro |
G/A |
13991715 |
upstream_gene_variant |
|
C/A |
13991738 |
upstream_gene_variant |
|
G/T |
13991804 |
upstream_gene_variant |
|
A/C |
13991830 |
upstream_gene_variant |
|
G/A |
13991876 |
intron_variant |
|
A/G |
13991945 |
splice_region_variant&intron_variant |
|
T/C |
13991967 |
missense_variant |
p.Ser685Gly |
T/G |
13992005 |
missense_variant |
p.Lys672Thr |
T/A |
13992006 |
stop_gained |
p.Lys672* |
A/G |
13992024 |
splice_region_variant&intron_variant |
|
A/G |
13992037 |
intron_variant |
|
C/T |
13992045 |
intron_variant |
|
C/G |
13992047 |
intron_variant |
|
T/G |
13992058 |
intron_variant |
|
G/T |
13992059 |
intron_variant |
|
G/T |
13992070 |
intron_variant |
|
G/A |
13992071 |
intron_variant |
|
T/G,A |
13992082 |
intron_variant |
|
C/A |
13992086 |
intron_variant |
|
A/C |
13992089 |
intron_variant |
|
C/A |
13992090 |
intron_variant |
|
T/A |
13992093 |
intron_variant |
|
G/A |
13992104 |
intron_variant |
|
A/G |
13992105 |
intron_variant |
|
T/C |
13992117 |
intron_variant |
|
G/A |
13992120 |
intron_variant |
|
A/T |
13992144 |
intron_variant |
|
A/G |
13992147 |
intron_variant |
|
G/C |
13992157 |
intron_variant |
|
A/T |
13992159 |
intron_variant |
|
A/T |
13992161 |
intron_variant |
|
G/T |
13992162 |
intron_variant |
|
G/C |
13992174 |
intron_variant |
|
G/T,* |
13992189 |
intron_variant |
|
G/C |
13992212 |
missense_variant |
p.Gln664Glu |
A/G |
13992225 |
synonymous_variant |
p.Asn659Asn |
C/A |
13992251 |
missense_variant |
p.Gly651Cys |
G/T |
13992258 |
synonymous_variant |
p.Thr648Thr |
T/A |
13992269 |
missense_variant |
p.Asn645Tyr |
A/G |
13992336 |
intron_variant |
|
C/A |
13992346 |
intron_variant |
|
C/T |
13992357 |
intron_variant |
|
A/G |
13992365 |
intron_variant |
|
C/T |
13992378 |
intron_variant |
|
A/T |
13992400 |
intron_variant |
|
T/A |
13992402 |
intron_variant |
|
C/T |
13992545 |
missense_variant |
p.Arg582Gln |
T/G |
13992583 |
missense_variant |
p.Lys569Asn |
T/C |
13992591 |
missense_variant |
p.Ile567Val |
C/G |
13992608 |
missense_variant |
p.Arg561Thr |
G/T |
13992611 |
missense_variant |
p.Thr560Lys |
C/G,* |
13992637 |
missense_variant |
p.Glu551Asp |
T/C |
13992665 |
splice_region_variant&intron_variant |
|
A/G |
13992693 |
intron_variant |
|
A/T |
13992712 |
intron_variant |
|
T/A |
13992726 |
intron_variant |
|
A/T |
13992745 |
splice_region_variant&intron_variant |
|
C/A |
13992747 |
splice_region_variant&intron_variant |
|
T/A |
13992749 |
splice_region_variant&intron_variant |
|
C/T |
13992766 |
missense_variant |
p.Gly539Glu |
C/A |
13992781 |
missense_variant |
p.Cys534Phe |
C/G |
13992792 |
missense_variant |
p.Trp530Cys |
T/G |
13992838 |
missense_variant |
p.His515Pro |
A/G |
13992842 |
missense_variant |
p.Tyr514His |
A/T,G |
13992853 |
missense_variant |
p.Ile510Thr |
C/T |
13992861 |
synonymous_variant |
p.Arg507Arg |
C/T |
13992864 |
synonymous_variant |
p.Arg506Arg |
G/C,T |
13992866 |
missense_variant |
p.Arg506Gly |
T/C |
13992928 |
intron_variant |
|
C/T |
13992949 |
intron_variant |
|
C/G |
13992950 |
intron_variant |
|
T/A |
13992981 |
intron_variant |
|
G/C |
13993000 |
intron_variant |
|
C/G |
13993011 |
intron_variant |
|
G/A |
13993034 |
intron_variant |
|
T/A |
13993084 |
missense_variant |
p.Leu487Phe |
A/G |
13993085 |
missense_variant |
p.Leu487Ser |
C/A |
13993105 |
missense_variant |
p.Gln480His |
A/G |
13993108 |
synonymous_variant |
p.Pro479Pro |
A/T |
13993112 |
missense_variant |
p.Phe478Tyr |
A/G |
13993116 |
stop_lost |
p.Ter477Glnext*? |
C/T |
13993133 |
missense_variant |
p.Arg471Lys |
A/C |
13993149 |
splice_region_variant&intron_variant |
|
A/G |
13993151 |
splice_region_variant&intron_variant |
|
G/A,C |
13993154 |
intron_variant |
|
C/T |
13993159 |
intron_variant |
|
C/G |
13993174 |
intron_variant |
|
G/A |
13993178 |
intron_variant |
|
T/G,A |
13993183 |
intron_variant |
|
G/T |
13993194 |
intron_variant |
|
G/T |
13993195 |
intron_variant |
|
C/G |
13993199 |
intron_variant |
|
C/G |
13993201 |
intron_variant |
|
G/A |
13993203 |
intron_variant |
|
C/T |
13993211 |
intron_variant |
|
A/G |
13993221 |
splice_region_variant&intron_variant |
|
T/C |
13993247 |
missense_variant |
p.Asn460Ser |
T/A |
13993260 |
missense_variant |
p.Ile456Phe |
C/T |
13993270 |
synonymous_variant |
p.Val452Val |
A/T |
13993271 |
missense_variant |
p.Val452Glu |
A/G |
13993305 |
splice_region_variant&intron_variant |
|
T/C |
13993314 |
intron_variant |
|
C/T |
13993318 |
intron_variant |
|
T/G |
13993319 |
intron_variant |
|
G/T |
13993336 |
intron_variant |
|
A/G |
13993337 |
intron_variant |
|
C/T |
13993338 |
intron_variant |
|
G/A |
13993339 |
intron_variant |
|
T/G |
13993347 |
intron_variant |
|
G/T |
13993352 |
intron_variant |
|
C/T |
13993354 |
intron_variant |
|
C/T |
13993357 |
intron_variant |
|
T/G |
13993359 |
intron_variant |
|
C/T |
13993366 |
intron_variant |
|
C/T |
13993372 |
intron_variant |
|
G/A |
13993383 |
intron_variant |
|
G/A |
13993392 |
intron_variant |
|
T/A |
13993408 |
intron_variant |
|
C/A |
13993421 |
intron_variant |
|
A/T |
13993422 |
intron_variant |
|
A/T,* |
13993424 |
intron_variant |
|
C/G,* |
13993437 |
intron_variant |
|
G/A |
13993475 |
missense_variant |
p.Pro438Ser |
A/T |
13993498 |
stop_gained |
p.Leu430* |
C/A |
13993501 |
missense_variant |
p.Arg429Ile |
C/G |
13993506 |
synonymous_variant |
p.Leu427Leu |
G/T |
13993508 |
missense_variant |
p.Leu427Met |
A/G |
13993509 |
synonymous_variant |
p.Cys426Cys |
C/G,A |
13993539 |
intron_variant |
|
C/G |
13993540 |
intron_variant |
|
A/G |
13993541 |
intron_variant |
|
T/A |
13993544 |
intron_variant |
|
G/A |
13993553 |
downstream_gene_variant |
|
C/G |
13993554 |
downstream_gene_variant |
|
A/T |
13993575 |
downstream_gene_variant |
|
A/T |
13993585 |
downstream_gene_variant |
|
C/G |
13993608 |
downstream_gene_variant |
|
A/T |
13993623 |
downstream_gene_variant |
|
G/A |
13993627 |
downstream_gene_variant |
|
T/A |
13993628 |
downstream_gene_variant |
|
C/G,T |
13993655 |
downstream_gene_variant |
|
A/G |
13993666 |
downstream_gene_variant |
|
G/*,T |
13993672 |
downstream_gene_variant |
|
C/T |
13993676 |
downstream_gene_variant |
|
C/A |
13993693 |
downstream_gene_variant |
|
G/A |
13993694 |
downstream_gene_variant |
|
A/T |
13993713 |
downstream_gene_variant |
|
C/T |
13993715 |
downstream_gene_variant |
|
G/T |
13993716 |
downstream_gene_variant |
|
G/A |
13993725 |
downstream_gene_variant |
|
T/C |
13993726 |
downstream_gene_variant |
|
T/C |
13993753 |
downstream_gene_variant |
|
G/A |
13993761 |
downstream_gene_variant |
|
G/C |
13993764 |
downstream_gene_variant |
|
G/T |
13993786 |
downstream_gene_variant |
|
G/C |
13993788 |
downstream_gene_variant |
|
C/T |
13993795 |
downstream_gene_variant |
|
A/T |
13993804 |
downstream_gene_variant |
|
A/G |
13993849 |
downstream_gene_variant |
|
G/T |
13993905 |
downstream_gene_variant |
|
C/A |
13993916 |
downstream_gene_variant |
|
T/C |
13993963 |
downstream_gene_variant |
|
C/A |
13994008 |
downstream_gene_variant |
|
C/A |
13994116 |
downstream_gene_variant |
|
T/C,A |
13994211 |
downstream_gene_variant |
|
A/C |
13994227 |
downstream_gene_variant |
|
T/C |
13994229 |
downstream_gene_variant |
|
T/G |
13994268 |
missense_variant |
p.Leu413Phe |
G/T |
13994279 |
synonymous_variant |
p.Arg410Arg |
C/A |
13994284 |
stop_lost |
p.Ter408Leuext*? |
G/A |
13994291 |
synonymous_variant |
p.Leu406Leu |
C/G |
13994298 |
missense_variant |
p.Trp403Cys |
T/C |
13994302 |
missense_variant |
p.Glu402Gly |
C/G |
13994314 |
missense_variant |
p.Ser398Thr |
G/A |
13994316 |
synonymous_variant |
p.Phe397Phe |
C/T |
13994323 |
missense_variant |
p.Arg395His |
T/G |
13994349 |
missense_variant |
p.Glu386Asp |
C/T |
13994351 |
missense_variant |
p.Glu386Lys |
A/G |
13994353 |
missense_variant |
p.Val385Ala |
G/C |
13994376 |
stop_gained |
p.Tyr377* |
C/A |
13994381 |
missense_variant |
p.Asp376Tyr |
T/A |
13994428 |
downstream_gene_variant |
|
A/G,C |
13994443 |
downstream_gene_variant |
|
A/G |
13994448 |
downstream_gene_variant |
|
T/C |
13994458 |
downstream_gene_variant |
|
C/T |
13994471 |
downstream_gene_variant |
|
T/G |
13994472 |
downstream_gene_variant |
|
G/A |
13994476 |
downstream_gene_variant |
|
G/C |
13994483 |
splice_region_variant&intron_variant |
|
T/C |
13994486 |
splice_region_variant&intron_variant |
|
G/C |
13994521 |
missense_variant |
p.Thr363Ser |
T/G |
13994522 |
missense_variant |
p.Thr363Pro |
A/T |
13994528 |
stop_lost |
p.Ter361Lysext*? |
G/C |
13994546 |
missense_variant |
p.Pro355Ala |
G/T |
13994563 |
missense_variant |
p.Ser349Tyr |
G/T |
13994590 |
missense_variant |
p.Pro340His |
C/G |
13994618 |
missense_variant |
p.Ala331Pro |
C/G |
13994653 |
missense_variant |
p.Cys319Ser |
A/T |
13994654 |
missense_variant |
p.Cys319Ser |
C/T |
13994655 |
synonymous_variant |
p.Gln318Gln |
T/A |
13994666 |
missense_variant |
p.Ile315Phe |
A/G |
13994670 |
synonymous_variant |
p.Phe313Phe |
G/C |
13994684 |
missense_variant |
p.Leu309Val |
C/A |
13994689 |
stop_lost |
p.Ter307Leuext*? |
A/C |
13994690 |
stop_lost |
p.Ter307Glyext*? |
G/T |
13994691 |
stop_gained |
p.Cys306* |
A/T |
13994705 |
missense_variant |
p.Tyr302Asn |
C/G |
13994719 |
missense_variant |
p.Arg297Pro |
A/G |
13994752 |
missense_variant |
p.Ile286Thr |
G/T |
13994781 |
missense_variant |
p.His276Gln |
G/A,* |
13994855 |
missense_variant |
p.Arg252Trp |
C/A |
13994863 |
missense_variant |
p.Ser249Ile |
A/C |
13994866 |
missense_variant |
p.Met248Arg |
T/G |
13994867 |
missense_variant |
p.Met248Leu |
C/G |
13994871 |
missense_variant |
p.Met246Ile |
T/C |
13994873 |
missense_variant |
p.Met246Val |
G/A |
13994894 |
missense_variant |
p.Pro239Ser |
C/G |
13994923 |
missense_variant |
p.Trp229Ser |
T/G |
13994927 |
missense_variant |
p.Thr228Pro |
A/G |
13994935 |
missense_variant |
p.Met225Thr |
A/C |
13994940 |
synonymous_variant |
p.Thr223Thr |
T/A |
13994942 |
missense_variant |
p.Thr223Ser |
A/T |
13994943 |
synonymous_variant |
p.Leu222Leu |
C/G |
13994949 |
synonymous_variant |
p.Val220Val |
C/T |
13994951 |
missense_variant |
p.Val220Met |
T/C |
13994952 |
missense_variant |
p.Ile219Met |
C/T |
13994973 |
missense_variant |
p.Met212Ile |
A/T |
13995020 |
downstream_gene_variant |
|
A/G |
13995048 |
splice_region_variant&intron_variant |
|
T/C |
13995069 |
missense_variant |
p.Lys204Arg |
G/A |
13995127 |
missense_variant |
p.Arg185Cys |
C/T |
13995135 |
stop_retained_variant |
p.Ter182Ter |
A/C |
13995136 |
stop_lost |
p.Ter182Glyext*? |
T/C |
13995140 |
synonymous_variant |
p.Glu180Glu |
G/A |
13995145 |
missense_variant |
p.Leu179Phe |
C/G |
13995151 |
missense_variant |
p.Glu177Gln |
A/T |
13995157 |
stop_lost |
p.Ter175Argext*? |
A/G |
13995161 |
synonymous_variant |
p.Ser173Ser |
T/A |
13995163 |
missense_variant |
p.Ser173Cys |
A/T |
13995165 |
missense_variant |
p.Ile172Asn |
A/G |
13995181 |
missense_variant |
p.Trp167Arg |
C/T |
13995192 |
stop_retained_variant |
p.Ter163Ter |
A/C |
13995193 |
stop_lost |
p.Ter163Glyext*? |
C/T |
13995196 |
missense_variant |
p.Gly162Ser |
G/A |
13995198 |
missense_variant |
p.Ser161Phe |
C/T |
13995208 |
missense_variant |
p.Ala158Thr |
A/G |
13995211 |
missense_variant |
p.Cys157Arg |
T/A |
13995212 |
missense_variant |
p.Leu156Phe |
T/G |
13995219 |
missense_variant |
p.Asn154Thr |
C/T |
13995228 |
missense_variant |
p.Cys151Tyr |
A/T |
13995232 |
missense_variant |
p.Ser150Thr |
A/G |
13995245 |
synonymous_variant |
p.Ile145Ile |
A/C |
13995246 |
missense_variant |
p.Ile145Ser |
T/A |
13995251 |
stop_lost |
p.Ter143Cysext*? |
C/T |
13995252 |
stop_retained_variant |
p.Ter143Ter |
A/C |
13995253 |
stop_lost |
p.Ter143Glyext*? |
T/G |
13995254 |
missense_variant |
p.Gln142His |
G/T,* |
13995256 |
missense_variant |
p.Gln142Lys |
T/C |
13995264 |
missense_variant |
p.Gln139Arg |
A/C |
13995266 |
missense_variant |
p.Ile138Met |
A/C |
13995267 |
missense_variant |
p.Ile138Ser |
A/T |
13995281 |
synonymous_variant |
p.Gly133Gly |
T/C |
13995287 |
synonymous_variant |
p.Pro131Pro |
G/C |
13995298 |
missense_variant |
p.Arg128Gly |
T/G |
13995316 |
missense_variant |
p.Thr122Pro |
G/A |
13995346 |
missense_variant |
p.Arg112Trp |
G/A |
13995356 |
synonymous_variant |
p.Phe108Phe |
A/T |
13995357 |
missense_variant |
p.Phe108Tyr |
T/G |
13995364 |
missense_variant |
p.Thr106Pro |
C/T |
13995373 |
missense_variant |
p.Val103Ile |
G/C |
13995380 |
missense_variant |
p.Ser100Arg |
T/C |
13995383 |
synonymous_variant |
p.Lys99Lys |
T/A |
13995385 |
stop_gained |
p.Lys99* |
G/A |
13995391 |
missense_variant |
p.Arg97Cys |
G/C |
13995466 |
missense_variant |
p.Gln72Glu |
C/T |
13995467 |
synonymous_variant |
p.Gln71Gln |
G/A |
13995470 |
synonymous_variant |
p.Asp70Asp |
T/G |
13995471 |
missense_variant |
p.Asp70Ala |
A/C |
13995483 |
missense_variant |
p.Ile66Ser |
T/G |
13995488 |
missense_variant |
p.Glu64Asp |
C/T |
13995491 |
stop_gained |
p.Trp63* |
C/G |
13995492 |
missense_variant |
p.Trp63Ser |
A/G |
13995502 |
missense_variant |
p.Trp60Arg |
G/A |
13995513 |
missense_variant |
p.Ser56Phe |
T/A |
13995628 |
downstream_gene_variant |
|
C/G |
13995634 |
downstream_gene_variant |
|
T/G |
13995672 |
downstream_gene_variant |
|
G/T |
13995684 |
downstream_gene_variant |
|
T/C |
13995685 |
downstream_gene_variant |
|
G/A |
13995701 |
splice_region_variant&intron_variant |
|
C/A |
13995703 |
splice_region_variant&intron_variant |
|
A/G |
13995776 |
missense_variant |
p.Leu5Ser |
G/A |
13995779 |
missense_variant |
p.Ser4Leu |