Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47286257C>A | CA2638435535 | ITGB3 | c.615-3C>A (n.615-3C>A) c.580-3C>A | gnomAD v4 |
17 | g.47286258A>C | CA400023348 | ITGB3 | c.615-2A>C (n.615-2A>C) c.580-2A>C | |
17 | g.47286258A>G | CA400023349 | ITGB3 | c.615-2A>G (n.615-2A>G) c.580-2A>G | |
17 | g.47286258A>T | CA400023350 | ITGB3 | c.615-2A>T (n.615-2A>T) c.580-2A>T | |
17 | g.47286259G>A | CA400023351 | ITGB3 | c.615-1G>A (n.615-1G>A) c.580-1G>A | ClinVar gnomAD v4 |
17 | g.47286259G>C | CA400023352 | ITGB3 | c.615-1G>C (n.615-1G>C) c.580-1G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286259G= | CA2262605975 | ITGB3 | c.615-1G= (n.615-1G=) c.580-1G= | |
17 | g.47286259G>T | CA400023353 | ITGB3 | c.615-1G>T (n.615-1G>T) c.580-1G>T | |
17 | g.47286260T>A | CA400023354 | ITGB3 | c.615T>A (p.Asp205Glu) c.580T>A | |
17 | g.47286260T>C | CA500431951 | ITGB3 | c.615T>C (p.Asp205=) c.580T>C | |
17 | g.47286260T>G | CA8623012 | ITGB3 | c.615T>G (p.Asp205Glu) c.580T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286260T= | CA2262605976 | ITGB3 | c.615T= (p.Asp205=) c.580T= | |
17 | g.47286261A>C | CA400023357 | ITGB3 | c.616A>C (p.Met206Leu) c.581A>C | |
17 | g.47286261A>G | CA400023356 | ITGB3 | c.616A>G (p.Met206Val) c.581A>G | gnomAD v4 |
17 | g.47286261A>T | CA400023355 | ITGB3 | c.616A>T (p.Met206Leu) c.581A>T | |
17 | g.47286261dup | CA2638435536 | ITGB3 | c.616dup (p.Met206AsnfsTer19) c.581dup | gnomAD v4 |
17 | g.47286262T>A | CA400023358 | ITGB3 | c.617T>A (p.Met206Lys) c.582T>A | |
17 | g.47286262T>C | CA400023359 | ITGB3 | c.617T>C (p.Met206Thr) c.582T>C | dbSNP |
17 | g.47286262T>G | CA400023360 | ITGB3 | c.617T>G (p.Met206Arg) c.582T>G | |
17 | g.47286262T= | CA2262605977 | ITGB3 | c.617T= (p.Met206=) c.582T= | |
17 | g.47286263G>A | CA400023361 | ITGB3 | c.618G>A (p.Met206Ile) c.583G>A | |
17 | g.47286263G>C | CA400023362 | ITGB3 | c.618G>C (p.Met206Ile) c.583G>C | |
17 | g.47286263G>T | CA400023363 | ITGB3 | c.618G>T (p.Met206Ile) c.583G>T | |
17 | g.47286264A>C | CA400023366 | ITGB3 | c.619A>C (p.Lys207Gln) c.584A>C | |
17 | g.47286264A>G | CA400023364 | ITGB3 | c.619A>G (p.Lys207Glu) c.584A>G | |
17 | g.47286264A>T | CA400023365 | ITGB3 | c.619A>T (p.Lys207Ter) c.584A>T | |
17 | g.47286265A>C | CA400023367 | ITGB3 | c.620A>C (p.Lys207Thr) c.585A>C | |
17 | g.47286265A>G | CA400023368 | ITGB3 | c.620A>G (p.Lys207Arg) c.585A>G | |
17 | g.47286265A>T | CA400023369 | ITGB3 | c.620A>T (p.Lys207Met) c.585A>T | |
17 | g.47286266G>A | CA500431952 | ITGB3 | c.621G>A (p.Lys207=) c.586G>A | ClinVar |
17 | g.47286266G>C | CA400023370 | ITGB3 | c.621G>C (p.Lys207Asn) c.586G>C | |
17 | g.47286266G>T | CA400023371 | ITGB3 | c.621G>T (p.Lys207Asn) c.586G>T | gnomAD v4 |
17 | g.47286267A>C | CA400023372 | ITGB3 | c.622A>C (p.Thr208Pro) c.587A>C | |
17 | g.47286267A>G | CA400023374 | ITGB3 | c.622A>G (p.Thr208Ala) c.587A>G | |
17 | g.47286267A>T | CA400023373 | ITGB3 | c.622A>T (p.Thr208Ser) c.587A>T | |
17 | g.47286268C>A | CA400023375 | ITGB3 | c.623C>A (p.Thr208Asn) c.588C>A | |
17 | g.47286268C>G | CA400023376 | ITGB3 | c.623C>G (p.Thr208Ser) c.588C>G | |
17 | g.47286268C>T | CA400023377 | ITGB3 | c.623C>T (p.Thr208Ile) c.588C>T | |
17 | g.47286269C>A | CA500431953 | ITGB3 | c.624C>A (p.Thr208=) c.589C>A | |
17 | g.47286269C>G | CA500431954 | ITGB3 | c.624C>G (p.Thr208=) c.589C>G | |
17 | g.47286269C>T | CA500431955 | ITGB3 | c.624C>T (p.Thr208=) c.589C>T | gnomAD v4 |
17 | g.47286270A>C | CA400023378 | ITGB3 | c.625A>C (p.Thr209Pro) c.590A>C | |
17 | g.47286270A>G | CA400023379 | ITGB3 | c.625A>G (p.Thr209Ala) c.590A>G | |
17 | g.47286270A>T | CA400023380 | ITGB3 | c.625A>T (p.Thr209Ser) c.590A>T | |
17 | g.47286271C>A | CA400023381 | ITGB3 | c.626C>A (p.Thr209Asn) c.591C>A | |
17 | g.47286271C>G | CA400023382 | ITGB3 | c.626C>G (p.Thr209Ser) c.591C>G | |
17 | g.47286271C>T | CA400023383 | ITGB3 | c.626C>T (p.Thr209Ile) c.591C>T | |
17 | g.47286272C>A | CA500431957 | ITGB3 | c.627C>A (p.Thr209=) c.592C>A | |
17 | g.47286272C= | CA2262605978 | ITGB3 | c.627C= (p.Thr209=) c.592C= | |
17 | g.47286272C>G | CA8623013 | ITGB3 | c.627C>G (p.Thr209=) c.592C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286272C>T | CA500431958 | ITGB3 | c.627C>T (p.Thr209=) c.592C>T | |
17 | g.47286273T>A | CA400023386 | ITGB3 | c.628T>A (p.Cys210Ser) c.593T>A | |
17 | g.47286273T>C | CA400023385 | ITGB3 | c.628T>C (p.Cys210Arg) c.593T>C | |
17 | g.47286273T>G | CA400023384 | ITGB3 | c.628T>G (p.Cys210Gly) c.593T>G | |
17 | g.47286274G>A | CA400023387 | ITGB3 | c.629G>A (p.Cys210Tyr) c.594G>A | gnomAD v4 |
17 | g.47286274G>C | CA400023389 | ITGB3 | c.629G>C (p.Cys210Ser) c.594G>C | ClinVar dbSNP |
17 | g.47286274G= | CA2262605979 | ITGB3 | c.629G= (p.Cys210=) c.594G= | |
17 | g.47286274G>T | CA400023388 | ITGB3 | c.629G>T (p.Cys210Phe) c.594G>T | |
17 | g.47286275C>A | CA400023390 | ITGB3 | c.630C>A (p.Cys210Ter) c.595C>A | |
17 | g.47286275C= | CA2262605980 | ITGB3 | c.630C= (p.Cys210=) c.595C= | |
17 | g.47286275C>G | CA400023391 | ITGB3 | c.630C>G (p.Cys210Trp) c.595C>G | |
17 | g.47286275C>T | CA500431959 | ITGB3 | c.630C>T (p.Cys210=) c.595C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286276T>A | CA400023392 | ITGB3 | c.631T>A (p.Leu211Met) c.596T>A | |
17 | g.47286276T>C | CA500431960 | ITGB3 | c.631T>C (p.Leu211=) c.596T>C | |
17 | g.47286276T>G | CA400023393 | ITGB3 | c.631T>G (p.Leu211Val) c.596T>G | |
17 | g.47286277T>A | CA400023394 | ITGB3 | c.632T>A (p.Leu211Ter) c.597T>A | |
17 | g.47286277T>C | CA400023395 | ITGB3 | c.632T>C (p.Leu211Ser) c.597T>C | |
17 | g.47286277T>G | CA400023396 | ITGB3 | c.632T>G (p.Leu211Trp) c.597T>G | |
17 | g.47286278G>A | CA8623014 | ITGB3 | c.633G>A (p.Leu211=) c.598G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286278G>C | CA400023397 | ITGB3 | c.633G>C (p.Leu211Phe) c.598G>C | |
17 | g.47286278G= | CA2262605981 | ITGB3 | c.633G= (p.Leu211=) c.598G= | |
17 | g.47286278G>T | CA400023398 | ITGB3 | c.633G>T (p.Leu211Phe) c.598G>T | |
17 | g.47286279C>A | CA400023401 | ITGB3 | c.634C>A (p.Pro212Thr) c.599C>A | |
17 | g.47286279C>G | CA400023400 | ITGB3 | c.634C>G (p.Pro212Ala) c.599C>G | |
17 | g.47286279C>T | CA400023399 | ITGB3 | c.634C>T (p.Pro212Ser) c.599C>T | gnomAD v4 |
17 | g.47286281dup | CA772536995 | ITGB3 | c.636dup (p.Met213HisfsTer12) c.601dup | dbSNP |
17 | g.47286280C>A | CA400023402 | ITGB3 | c.635C>A (p.Pro212His) c.600C>A | |
17 | g.47286280C= | CA2262605982 | ITGB3 | c.635C= (p.Pro212=) c.600C= | |
17 | g.47286280C>G | CA400023403 | ITGB3 | c.635C>G (p.Pro212Arg) c.600C>G | |
17 | g.47286280C>T | CA291224884 | ITGB3 | c.635C>T (p.Pro212Leu) c.600C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286281C>A | CA500431962 | ITGB3 | c.636C>A (p.Pro212=) c.601C>A | gnomAD v4 |
17 | g.47286281C>G | CA500431961 | ITGB3 | c.636C>G (p.Pro212=) c.601C>G | |
17 | g.47286281C>T | CA500431963 | ITGB3 | c.636C>T (p.Pro212=) c.601C>T | |
17 | g.47286282A= | CA2262605983 | ITGB3 | c.637A= (p.Met213=) c.602A= | |
17 | g.47286282A>C | CA400023404 | ITGB3 | c.637A>C (p.Met213Leu) c.602A>C | |
17 | g.47286282A>G | CA400023405 | ITGB3 | c.637A>G (p.Met213Val) c.602A>G | dbSNP gnomAD v4 |
17 | g.47286282A>T | CA400023406 | ITGB3 | c.637A>T (p.Met213Leu) c.602A>T | |
17 | g.47286283T>A | CA400023407 | ITGB3 | c.638T>A (p.Met213Lys) c.603T>A | |
17 | g.47286283T>C | CA400023408 | ITGB3 | c.638T>C (p.Met213Thr) c.603T>C | gnomAD v4 |
17 | g.47286283T>G | CA400023409 | ITGB3 | c.638T>G (p.Met213Arg) c.603T>G | |
17 | g.47286284G>A | CA400023410 | ITGB3 | c.639G>A (p.Met213Ile) c.604G>A | |
17 | g.47286284G>C | CA400023411 | ITGB3 | c.639G>C (p.Met213Ile) c.604G>C | |
17 | g.47286284G>T | CA400023412 | ITGB3 | c.639G>T (p.Met213Ile) c.604G>T | |
17 | g.47286285T>A | CA400023414 | ITGB3 | c.640T>A (p.Phe214Ile) c.605T>A | |
17 | g.47286285T>C | CA400023415 | ITGB3 | c.640T>C (p.Phe214Leu) c.605T>C | |
17 | g.47286285T>G | CA400023413 | ITGB3 | c.640T>G (p.Phe214Val) c.605T>G | |
17 | g.47286286T>A | CA400023416 | ITGB3 | c.641T>A (p.Phe214Tyr) c.606T>A | |
17 | g.47286286T>C | CA400023417 | ITGB3 | c.641T>C (p.Phe214Ser) c.606T>C | |
17 | g.47286286T>G | CA400023418 | ITGB3 | c.641T>G (p.Phe214Cys) c.606T>G | |
17 | g.47286287T>A | CA400023419 | ITGB3 | c.642T>A (p.Phe214Leu) c.607T>A | |
17 | g.47286287T>C | CA500431964 | ITGB3 | c.642T>C (p.Phe214=) c.607T>C | |
17 | g.47286287T>G | CA400023420 | ITGB3 | c.642T>G (p.Phe214Leu) c.607T>G | |
17 | g.47286288G>A | CA400023423 | ITGB3 | c.643G>A (p.Gly215Ser) c.608G>A | |
17 | g.47286288G>C | CA400023422 | ITGB3 | c.643G>C (p.Gly215Arg) c.608G>C | |
17 | g.47286288G>T | CA400023421 | ITGB3 | c.643G>T (p.Gly215Cys) c.608G>T | |
17 | g.47286289G>A | CA400023424 | ITGB3 | c.644G>A (p.Gly215Asp) c.609G>A | gnomAD v4 |
17 | g.47286289G>C | CA400023425 | ITGB3 | c.644G>C (p.Gly215Ala) c.609G>C | |
17 | g.47286289G>T | CA400023426 | ITGB3 | c.644G>T (p.Gly215Val) c.609G>T | |
17 | g.47286290C>A | CA500431967 | ITGB3 | c.645C>A (p.Gly215=) c.610C>A | |
17 | g.47286290C>G | CA500431965 | ITGB3 | c.645C>G (p.Gly215=) c.610C>G | |
17 | g.47286290C>T | CA500431966 | ITGB3 | c.645C>T (p.Gly215=) c.610C>T | |
17 | g.47286291T>A | CA400023427 | ITGB3 | c.646T>A (p.Tyr216Asn) c.611T>A | |
17 | g.47286291T>C | CA400023428 | ITGB3 | c.646T>C (p.Tyr216His) c.611T>C | ClinVar |
17 | g.47286291T>G | CA400023429 | ITGB3 | c.646T>G (p.Tyr216Asp) c.611T>G | |
17 | g.47286292A= | CA2262605984 | ITGB3 | c.647A= (p.Tyr216=) c.612A= | |
17 | g.47286292A>C | CA400023430 | ITGB3 | c.647A>C (p.Tyr216Ser) c.612A>C | |
17 | g.47286292A>G | CA400023432 | ITGB3 | c.647A>G (p.Tyr216Cys) c.612A>G | ClinVar dbSNP |
17 | g.47286292A>T | CA400023431 | ITGB3 | c.647A>T (p.Tyr216Phe) c.612A>T | |
17 | g.47286293C>A | CA400023433 | ITGB3 | c.648C>A (p.Tyr216Ter) c.613C>A | |
17 | g.47286293C>G | CA400023434 | ITGB3 | c.648C>G (p.Tyr216Ter) c.613C>G | |
17 | g.47286293C>T | CA500431968 | ITGB3 | c.648C>T (p.Tyr216=) c.613C>T | dbSNP |
17 | g.47286294A>C | CA400023435 | ITGB3 | c.649A>C (p.Lys217Gln) c.614A>C | |
17 | g.47286294A>G | CA400023436 | ITGB3 | c.649A>G (p.Lys217Glu) c.614A>G | gnomAD v4 |
17 | g.47286294A>T | CA400023437 | ITGB3 | c.649A>T (p.Lys217Ter) c.614A>T | |
17 | g.47286295A>C | CA400023438 | ITGB3 | c.650A>C (p.Lys217Thr) c.615A>C | |
17 | g.47286295A>G | CA400023439 | ITGB3 | c.650A>G (p.Lys217Arg) c.615A>G | |
17 | g.47286295A>T | CA400023440 | ITGB3 | c.650A>T (p.Lys217Ile) c.615A>T | |
17 | g.47286296A= | CA2262605985 | ITGB3 | c.651A= (p.Lys217=) c.616A= | |
17 | g.47286296A>C | CA400023441 | ITGB3 | c.651A>C (p.Lys217Asn) c.616A>C | |
17 | g.47286296A>G | CA500431969 | ITGB3 | c.651A>G (p.Lys217=) c.616A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286296A>T | CA400023442 | ITGB3 | c.651A>T (p.Lys217Asn) c.616A>T | gnomAD v4 |
17 | g.47286297C>A | CA400023443 | ITGB3 | c.652C>A (p.His218Asn) c.617C>A | |
17 | g.47286297C>G | CA400023444 | ITGB3 | c.652C>G (p.His218Asp) c.617C>G | |
17 | g.47286297C>T | CA400023445 | ITGB3 | c.652C>T (p.His218Tyr) c.617C>T | ClinVar dbSNP |
17 | g.47286298A>C | CA400023447 | ITGB3 | c.653A>C (p.His218Pro) c.618A>C | |
17 | g.47286298A>G | CA400023448 | ITGB3 | c.653A>G (p.His218Arg) c.618A>G | gnomAD v4 |
17 | g.47286298A>T | CA400023446 | ITGB3 | c.653A>T (p.His218Leu) c.618A>T | |
17 | g.47286299C>A | CA400023450 | ITGB3 | c.654C>A (p.His218Gln) c.619C>A | |
17 | g.47286299C= | CA2262605986 | ITGB3 | c.654C= (p.His218=) c.619C= | |
17 | g.47286299C>G | CA400023449 | ITGB3 | c.654C>G (p.His218Gln) c.619C>G | |
17 | g.47286299C>T | CA8623015 | ITGB3 | c.654C>T (p.His218=) c.619C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286300G>A | CA8623016 | ITGB3 | c.655G>A (p.Val219Met) c.620G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286300G>C | CA400023452 | ITGB3 | c.655G>C (p.Val219Leu) c.620G>C | gnomAD v4 |
17 | g.47286300G= | CA2262605987 | ITGB3 | c.655G= (p.Val219=) c.620G= | |
17 | g.47286300G>T | CA400023451 | ITGB3 | c.655G>T (p.Val219Leu) c.620G>T | gnomAD v4 |
17 | g.47286301T>A | CA400023453 | ITGB3 | c.656T>A (p.Val219Glu) c.621T>A | |
17 | g.47286301T>C | CA400023455 | ITGB3 | c.656T>C (p.Val219Ala) c.621T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286301T>G | CA400023454 | ITGB3 | c.656T>G (p.Val219Gly) c.621T>G | |
17 | g.47286301T= | CA2262605988 | ITGB3 | c.656T= (p.Val219=) c.621T= | |
17 | g.47286302G>A | CA500431972 | ITGB3 | c.657G>A (p.Val219=) c.622G>A | |
17 | g.47286302G>C | CA500431971 | ITGB3 | c.657G>C (p.Val219=) c.622G>C | gnomAD v4 |
17 | g.47286302G>T | CA500431970 | ITGB3 | c.657G>T (p.Val219=) c.622G>T | |
17 | g.47286303C>A | CA400023456 | ITGB3 | c.658C>A (p.Leu220Met) c.623C>A | |
17 | g.47286303C>G | CA400023457 | ITGB3 | c.658C>G (p.Leu220Val) c.623C>G | |
17 | g.47286303C>T | CA500431973 | ITGB3 | c.658C>T (p.Leu220=) c.623C>T | |
17 | g.47286304T>A | CA400023458 | ITGB3 | c.659T>A (p.Leu220Gln) c.624T>A | gnomAD v4 |
17 | g.47286304T>C | CA400023459 | ITGB3 | c.659T>C (p.Leu220Pro) c.624T>C | |
17 | g.47286304T>G | CA400023460 | ITGB3 | c.659T>G (p.Leu220Arg) c.624T>G | |
17 | g.47286305G>A | CA500431975 | ITGB3 | c.660G>A (p.Leu220=) c.625G>A | |
17 | g.47286305G>C | CA500431974 | ITGB3 | c.660G>C (p.Leu220=) c.625G>C | |
17 | g.47286305G>T | CA500431976 | ITGB3 | c.660G>T (p.Leu220=) c.625G>T | |
17 | g.47286306A>C | CA400023461 | ITGB3 | c.661A>C (p.Thr221Pro) c.626A>C | |
17 | g.47286306A>G | CA400023462 | ITGB3 | c.661A>G (p.Thr221Ala) c.626A>G | |
17 | g.47286306A>T | CA400023463 | ITGB3 | c.661A>T (p.Thr221Ser) c.626A>T | |
17 | g.47286307C>A | CA400023464 | ITGB3 | c.662C>A (p.Thr221Lys) c.627C>A | |
17 | g.47286307C= | CA2262605989 | ITGB3 | c.662C= (p.Thr221=) c.627C= | |
17 | g.47286307C>G | CA400023465 | ITGB3 | c.662C>G (p.Thr221Arg) c.627C>G | gnomAD v4 |
17 | g.47286307C>T | CA8623017 | ITGB3 | c.662C>T (p.Thr221Met) c.627C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286308G>A | CA8623018 | ITGB3 | c.663G>A (p.Thr221=) c.628G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286308G>C | CA500431977 | ITGB3 | c.663G>C (p.Thr221=) c.628G>C | |
17 | g.47286308G= | CA2262605990 | ITGB3 | c.663G= (p.Thr221=) c.628G= | |
17 | g.47286308G>T | CA500431978 | ITGB3 | c.663G>T (p.Thr221=) c.628G>T | |
17 | g.47286308_47286312delinsGCTAA | CA2262605991 | ITGB3 | c.663_667delinsGCTAA (p.Thr221=) c.628_632delinsGCTAA | |
17 | g.47286309C>A | CA400023466 | ITGB3 | c.664C>A (p.Leu222Ile) c.629C>A | |
17 | g.47286309C>G | CA400023467 | ITGB3 | c.664C>G (p.Leu222Val) c.629C>G | |
17 | g.47286309C>T | CA500431979 | ITGB3 | c.664C>T (p.Leu222=) c.629C>T | |
17 | g.47286311_47286314del | CA772537044 | ITGB3 | c.666_669del (p.Asp224ArgfsTer2) c.631_634del | dbSNP |
17 | g.47286310T>A | CA400023468 | ITGB3 | c.665T>A (p.Leu222Gln) c.630T>A | |
17 | g.47286310T>C | CA291224887 | ITGB3 | c.665T>C (p.Leu222Pro) c.630T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286310T>G | CA400023469 | ITGB3 | c.665T>G (p.Leu222Arg) c.630T>G | |
17 | g.47286310T= | CA2262605992 | ITGB3 | c.665T= (p.Leu222=) c.630T= | |
17 | g.47286311A>C | CA500431981 | ITGB3 | c.666A>C (p.Leu222=) c.631A>C | |
17 | g.47286311A>G | CA500431982 | ITGB3 | c.666A>G (p.Leu222=) c.631A>G | |
17 | g.47286311A>T | CA500431980 | ITGB3 | c.666A>T (p.Leu222=) c.631A>T | dbSNP |
17 | g.47286312A>C | CA400023470 | ITGB3 | c.667A>C (p.Thr223Pro) c.632A>C | |
17 | g.47286312A>G | CA400023471 | ITGB3 | c.667A>G (p.Thr223Ala) c.632A>G | |
17 | g.47286312A>T | CA400023472 | ITGB3 | c.667A>T (p.Thr223Ser) c.632A>T | |
17 | g.47286313C>A | CA400023473 | ITGB3 | c.668C>A (p.Thr223Asn) c.633C>A | |
17 | g.47286313C>G | CA400023474 | ITGB3 | c.668C>G (p.Thr223Ser) c.633C>G | |
17 | g.47286313C>T | CA400023475 | ITGB3 | c.668C>T (p.Thr223Ile) c.633C>T | |
17 | g.47286314T>A | CA500431985 | ITGB3 | c.669T>A (p.Thr223=) c.634T>A | |
17 | g.47286314T>C | CA500431984 | ITGB3 | c.669T>C (p.Thr223=) c.634T>C | |
17 | g.47286314T>G | CA500431983 | ITGB3 | c.669T>G (p.Thr223=) c.634T>G | dbSNP |
17 | g.47286315G>A | CA8623019 | ITGB3 | c.670G>A (p.Asp224Asn) c.635G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286315G>C | CA400023476 | ITGB3 | c.670G>C (p.Asp224His) c.635G>C | |
17 | g.47286315G= | CA2262605993 | ITGB3 | c.670G= (p.Asp224=) c.635G= | |
17 | g.47286315G>T | CA400023477 | ITGB3 | c.670G>T (p.Asp224Tyr) c.635G>T | |
17 | g.47286316A>C | CA400023479 | ITGB3 | c.671A>C (p.Asp224Ala) c.636A>C | |
17 | g.47286316A>G | CA400023480 | ITGB3 | c.671A>G (p.Asp224Gly) c.636A>G | gnomAD v4 |
17 | g.47286316A>T | CA400023478 | ITGB3 | c.671A>T (p.Asp224Val) c.636A>T | gnomAD v4 |
17 | g.47286317C>A | CA400023481 | ITGB3 | c.672C>A (p.Asp224Glu) c.637C>A | |
17 | g.47286317C= | CA2262605994 | ITGB3 | c.672C= (p.Asp224=) c.637C= | |
17 | g.47286317C>G | CA400023482 | ITGB3 | c.672C>G (p.Asp224Glu) c.637C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286317C>T | CA8623020 | ITGB3 | c.672C>T (p.Asp224=) c.637C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286318C>A | CA400023483 | ITGB3 | c.673C>A (p.Gln225Lys) c.638C>A | |
17 | g.47286318C>G | CA400023484 | ITGB3 | c.673C>G (p.Gln225Glu) c.638C>G | |
17 | g.47286318C>T | CA400023485 | ITGB3 | c.673C>T (p.Gln225Ter) c.638C>T | |
17 | g.47286319del | CA915940689 | ITGB3 | c.674del (p.Gln225ArgfsTer2) c.639del | ClinVar dbSNP |
17 | g.47286319A= | CA2262605995 | ITGB3 | c.674A= (p.Gln225=) c.639A= | |
17 | g.47286319A>C | CA400023486 | ITGB3 | c.674A>C (p.Gln225Pro) c.639A>C | |
17 | g.47286319A>G | CA8623021 | ITGB3 | c.674A>G (p.Gln225Arg) c.639A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286319A>T | CA400023487 | ITGB3 | c.674A>T (p.Gln225Leu) c.639A>T | |
17 | g.47286320G>A | CA500431986 | ITGB3 | c.675G>A (p.Gln225=) c.640G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286320G>C | CA400023488 | ITGB3 | c.675G>C (p.Gln225His) c.640G>C | gnomAD v4 |
17 | g.47286320G= | CA2262605996 | ITGB3 | c.675G= (p.Gln225=) c.640G= | |
17 | g.47286320G>T | CA400023489 | ITGB3 | c.675G>T (p.Gln225His) c.640G>T | |
17 | g.47286321G>A | CA400023491 | ITGB3 | c.676G>A (p.Val226Met) c.641G>A | |
17 | g.47286321G>C | CA400023492 | ITGB3 | c.676G>C (p.Val226Leu) c.641G>C | |
17 | g.47286321G>T | CA400023490 | ITGB3 | c.676G>T (p.Val226Leu) c.641G>T | |
17 | g.47286322T>A | CA400023493 | ITGB3 | c.677T>A (p.Val226Glu) c.642T>A | |
17 | g.47286322T>C | CA400023494 | ITGB3 | c.677T>C (p.Val226Ala) c.642T>C | |
17 | g.47286322T>G | CA400023495 | ITGB3 | c.677T>G (p.Val226Gly) c.642T>G | |
17 | g.47286323G>A | CA8623022 | ITGB3 | c.678G>A (p.Val226=) c.643G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286323G>C | CA500431988 | ITGB3 | c.678G>C (p.Val226=) c.643G>C | |
17 | g.47286323G= | CA2262605997 | ITGB3 | c.678G= (p.Val226=) c.643G= | |
17 | g.47286323G>T | CA500431989 | ITGB3 | c.678G>T (p.Val226=) c.643G>T | |
17 | g.47286324A>C | CA400023498 | ITGB3 | c.679A>C (p.Thr227Pro) c.644A>C | |
17 | g.47286324A>G | CA400023497 | ITGB3 | c.679A>G (p.Thr227Ala) c.644A>G | |
17 | g.47286324A>T | CA400023496 | ITGB3 | c.679A>T (p.Thr227Ser) c.644A>T | |
17 | g.47286325C>A | CA400023499 | ITGB3 | c.680C>A (p.Thr227Asn) c.645C>A | |
17 | g.47286325C>G | CA400023500 | ITGB3 | c.680C>G (p.Thr227Ser) c.645C>G | |
17 | g.47286325C>T | CA400023501 | ITGB3 | c.680C>T (p.Thr227Ile) c.645C>T | |
17 | g.47286326C>A | CA500431991 | ITGB3 | c.681C>A (p.Thr227=) c.646C>A | |
17 | g.47286326C= | CA2262605998 | ITGB3 | c.681C= (p.Thr227=) c.646C= | |
17 | g.47286326C>G | CA500431992 | ITGB3 | c.681C>G (p.Thr227=) c.646C>G | |
17 | g.47286326C>T | CA500431990 | ITGB3 | c.681C>T (p.Thr227=) c.646C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286327C>A | CA400023502 | ITGB3 | c.682C>A (p.Arg228Ser) c.647C>A | gnomAD v4 |
17 | g.47286327C= | CA2262605999 | ITGB3 | c.682C= (p.Arg228=) c.647C= | |
17 | g.47286327C>G | CA8623023 | ITGB3 | c.682C>G (p.Arg228Gly) c.647C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286327C>T | CA8623024 | ITGB3 | c.682C>T (p.Arg228Cys) c.647C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286328G>A | CA8623025 | ITGB3 | c.683G>A (p.Arg228His) c.648G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286328G>C | CA400023504 | ITGB3 | c.683G>C (p.Arg228Pro) c.648G>C | |
17 | g.47286328G= | CA2262606000 | ITGB3 | c.683G= (p.Arg228=) c.648G= | |
17 | g.47286328G>T | CA400023503 | ITGB3 | c.683G>T (p.Arg228Leu) c.648G>T | dbSNP |
17 | g.47286329C>A | CA500431994 | ITGB3 | c.684C>A (p.Arg228=) c.649C>A | |
17 | g.47286329C= | CA2262606001 | ITGB3 | c.684C= (p.Arg228=) c.649C= | |
17 | g.47286329C>G | CA500431993 | ITGB3 | c.684C>G (p.Arg228=) c.649C>G | |
17 | g.47286329C>T | CA8623026 | ITGB3 | c.684C>T (p.Arg228=) c.649C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286330T>A | CA400023507 | ITGB3 | c.685T>A (p.Phe229Ile) c.650T>A | |
17 | g.47286330T>C | CA400023505 | ITGB3 | c.685T>C (p.Phe229Leu) c.650T>C | gnomAD v4 |
17 | g.47286330T>G | CA400023506 | ITGB3 | c.685T>G (p.Phe229Val) c.650T>G | |
17 | g.47286331T>A | CA400023508 | ITGB3 | c.686T>A (p.Phe229Tyr) c.651T>A | |
17 | g.47286331T>C | CA400023509 | ITGB3 | c.686T>C (p.Phe229Ser) c.651T>C | |
17 | g.47286331T>G | CA400023510 | ITGB3 | c.686T>G (p.Phe229Cys) c.651T>G | |
17 | g.47286332C>A | CA400023511 | ITGB3 | c.687C>A (p.Phe229Leu) c.652C>A | |
17 | g.47286332C>G | CA400023512 | ITGB3 | c.687C>G (p.Phe229Leu) c.652C>G | |
17 | g.47286332C>T | CA500431996 | ITGB3 | c.687C>T (p.Phe229=) c.652C>T | |
17 | g.47286333A>C | CA400023513 | ITGB3 | c.688A>C (p.Asn230His) c.653A>C | |
17 | g.47286333A>G | CA400023514 | ITGB3 | c.688A>G (p.Asn230Asp) c.653A>G | |
17 | g.47286333A>T | CA400023515 | ITGB3 | c.688A>T (p.Asn230Tyr) c.653A>T | |
17 | g.47286334A= | CA2262606002 | ITGB3 | c.689A= (p.Asn230=) c.654A= | |
17 | g.47286334A>C | CA400023516 | ITGB3 | c.689A>C (p.Asn230Thr) c.654A>C | |
17 | g.47286334A>G | CA8623027 | ITGB3 | c.689A>G (p.Asn230Ser) c.654A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286334A>T | CA400023517 | ITGB3 | c.689A>T (p.Asn230Ile) c.654A>T | |
17 | g.47286335T>A | CA400023518 | ITGB3 | c.690T>A (p.Asn230Lys) c.655T>A | |
17 | g.47286335T>C | CA500431997 | ITGB3 | c.690T>C (p.Asn230=) c.655T>C | ClinVar |
17 | g.47286335T>G | CA400023519 | ITGB3 | c.690T>G (p.Asn230Lys) c.655T>G | |
17 | g.47286336G>A | CA400023520 | ITGB3 | c.691G>A (p.Glu231Lys) c.656G>A | |
17 | g.47286336G>C | CA400023521 | ITGB3 | c.691G>C (p.Glu231Gln) c.656G>C | |
17 | g.47286336G>T | CA400023522 | ITGB3 | c.691G>T (p.Glu231Ter) c.656G>T | |
17 | g.47286337A>C | CA400023523 | ITGB3 | c.692A>C (p.Glu231Ala) c.657A>C | |
17 | g.47286337A>G | CA400023524 | ITGB3 | c.692A>G (p.Glu231Gly) c.657A>G | |
17 | g.47286337A>T | CA400023525 | ITGB3 | c.692A>T (p.Glu231Val) c.657A>T | |
17 | g.47286338G>A | CA500431998 | ITGB3 | c.693G>A (p.Glu231=) c.658G>A | |
17 | g.47286338G>C | CA400023526 | ITGB3 | c.693G>C (p.Glu231Asp) c.658G>C | |
17 | g.47286338G>T | CA400023527 | ITGB3 | c.693G>T (p.Glu231Asp) c.658G>T | |
17 | g.47286339G>A | CA400023528 | ITGB3 | c.694G>A (p.Glu232Lys) c.659G>A | |
17 | g.47286339G>C | CA400023529 | ITGB3 | c.694G>C (p.Glu232Gln) c.659G>C | |
17 | g.47286339G>T | CA400023530 | ITGB3 | c.694G>T (p.Glu232Ter) c.659G>T | ClinVar COSMIC |
17 | g.47286340A= | CA2262606003 | ITGB3 | c.695A= (p.Glu232=) c.660A= | |
17 | g.47286340A>C | CA400023533 | ITGB3 | c.695A>C (p.Glu232Ala) c.660A>C | |
17 | g.47286340A>G | CA400023532 | ITGB3 | c.695A>G (p.Glu232Gly) c.660A>G | dbSNP gnomAD v2 |
17 | g.47286340A>T | CA400023531 | ITGB3 | c.695A>T (p.Glu232Val) c.660A>T | |
17 | g.47286341A>C | CA400023534 | ITGB3 | c.696A>C (p.Glu232Asp) c.661A>C | |
17 | g.47286341A>G | CA500431999 | ITGB3 | c.696A>G (p.Glu232=) c.661A>G | |
17 | g.47286341A>T | CA400023535 | ITGB3 | c.696A>T (p.Glu232Asp) c.661A>T | |
17 | g.47286342G>A | CA400023536 | ITGB3 | c.697G>A (p.Val233Met) c.662G>A | gnomAD v4 |
17 | g.47286342G>C | CA400023537 | ITGB3 | c.697G>C (p.Val233Leu) c.662G>C | |
17 | g.47286342G>T | CA400023538 | ITGB3 | c.697G>T (p.Val233Leu) c.662G>T | |
17 | g.47286343T>A | CA400023539 | ITGB3 | c.698T>A (p.Val233Glu) c.663T>A | |
17 | g.47286343T>C | CA400023540 | ITGB3 | c.698T>C (p.Val233Ala) c.663T>C | |
17 | g.47286343T>G | CA400023541 | ITGB3 | c.698T>G (p.Val233Gly) c.663T>G | |
17 | g.47286344G>A | CA500432000 | ITGB3 | c.699G>A (p.Val233=) c.664G>A | dbSNP gnomAD v2 |
17 | g.47286344G>C | CA500432001 | ITGB3 | c.699G>C (p.Val233=) c.664G>C | |
17 | g.47286344G= | CA2262606004 | ITGB3 | c.699G= (p.Val233=) c.664G= | |
17 | g.47286344G>T | CA500432002 | ITGB3 | c.699G>T (p.Val233=) c.664G>T | |
17 | g.47286345A>C | CA400023542 | ITGB3 | c.700A>C (p.Lys234Gln) c.665A>C | |
17 | g.47286345A>G | CA400023543 | ITGB3 | c.700A>G (p.Lys234Glu) c.665A>G | |
17 | g.47286345A>T | CA400023544 | ITGB3 | c.700A>T (p.Lys234Ter) c.665A>T | COSMIC COSMIC |
17 | g.47286346A>C | CA400023545 | ITGB3 | c.701A>C (p.Lys234Thr) c.666A>C | |
17 | g.47286346A>G | CA400023546 | ITGB3 | c.701A>G (p.Lys234Arg) c.666A>G | |
17 | g.47286346A>T | CA400023547 | ITGB3 | c.701A>T (p.Lys234Met) c.666A>T | |
17 | g.47286347G>A | CA500432003 | ITGB3 | c.702G>A (p.Lys234=) c.667G>A | |
17 | g.47286347G>C | CA400023548 | ITGB3 | c.702G>C (p.Lys234Asn) c.667G>C | COSMIC COSMIC COSMIC |
17 | g.47286347G>T | CA400023549 | ITGB3 | c.702G>T (p.Lys234Asn) c.667G>T | |
17 | g.47286348A= | CA2262606005 | ITGB3 | c.703A= (p.Lys235=) c.668A= | |
17 | g.47286348A>C | CA400023550 | ITGB3 | c.703A>C (p.Lys235Gln) c.668A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286348A>G | CA400023551 | ITGB3 | c.703A>G (p.Lys235Glu) c.668A>G | ClinVar |
17 | g.47286348A>T | CA400023552 | ITGB3 | c.703A>T (p.Lys235Ter) c.668A>T | |
17 | g.47286349A= | CA2262606006 | ITGB3 | c.704A= (p.Lys235=) c.669A= | |
17 | g.47286349A>C | CA400023553 | ITGB3 | c.704A>C (p.Lys235Thr) c.669A>C | |
17 | g.47286349A>G | CA8623028 | ITGB3 | c.704A>G (p.Lys235Arg) c.669A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286349A>T | CA400023554 | ITGB3 | c.704A>T (p.Lys235Met) c.669A>T | |
17 | g.47286350G>A | CA500432005 | ITGB3 | c.705G>A (p.Lys235=) c.670G>A | |
17 | g.47286350G>C | CA400023555 | ITGB3 | c.705G>C (p.Lys235Asn) c.670G>C | |
17 | g.47286350G>T | CA400023556 | ITGB3 | c.705G>T (p.Lys235Asn) c.670G>T | |
17 | g.47286351C>A | CA400023557 | ITGB3 | c.706C>A (p.Gln236Lys) c.671C>A | |
17 | g.47286351C>G | CA400023558 | ITGB3 | c.706C>G (p.Gln236Glu) c.671C>G | |
17 | g.47286351C>T | CA400023559 | ITGB3 | c.706C>T (p.Gln236Ter) c.671C>T | |
17 | g.47286351_47286353delinsCAG | CA2262606007 | ITGB3 | c.706_708delinsCAG (p.Gln236=) c.671_673delinsCAG | |
17 | g.47286352A>C | CA400023561 | ITGB3 | c.707A>C (p.Gln236Pro) c.672A>C | |
17 | g.47286352A>G | CA400023562 | ITGB3 | c.707A>G (p.Gln236Arg) c.672A>G | |
17 | g.47286352A>T | CA400023560 | ITGB3 | c.707A>T (p.Gln236Leu) c.672A>T | |
17 | g.47286354_47286355del | CA8623029 | ITGB3 | c.709_710del (p.Ser237CysfsTer13) c.674_675del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286353G>A | CA291224893 | ITGB3 | c.708G>A (p.Gln236=) c.673G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286353G>C | CA400023563 | ITGB3 | c.708G>C (p.Gln236His) c.673G>C | |
17 | g.47286353G= | CA2262606008 | ITGB3 | c.708G= (p.Gln236=) c.673G= | |
17 | g.47286353G>T | CA400023564 | ITGB3 | c.708G>T (p.Gln236His) c.673G>T | |
17 | g.47286354A>C | CA400023565 | ITGB3 | c.709A>C (p.Ser237Arg) c.674A>C | |
17 | g.47286354A>G | CA400023566 | ITGB3 | c.709A>G (p.Ser237Gly) c.674A>G | |
17 | g.47286354A>T | CA400023567 | ITGB3 | c.709A>T (p.Ser237Cys) c.674A>T | |
17 | g.47286355G>A | CA400023568 | ITGB3 | c.710G>A (p.Ser237Asn) c.675G>A | gnomAD v4 |
17 | g.47286355G>C | CA400023569 | ITGB3 | c.710G>C (p.Ser237Thr) c.675G>C | |
17 | g.47286355G>T | CA400023570 | ITGB3 | c.710G>T (p.Ser237Ile) c.675G>T | |
17 | g.47286356T>A | CA400023571 | ITGB3 | c.711T>A (p.Ser237Arg) c.676T>A | dbSNP gnomAD v2 |
17 | g.47286356T>C | CA500432006 | ITGB3 | c.711T>C (p.Ser237=) c.676T>C | gnomAD v4 |
17 | g.47286356T>G | CA8623030 | ITGB3 | c.711T>G (p.Ser237Arg) c.676T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286356T= | CA2262606009 | ITGB3 | c.711T= (p.Ser237=) c.676T= | |
17 | g.47286357G>A | CA400023572 | ITGB3 | c.712G>A (p.Val238Met) c.677G>A | |
17 | g.47286357G>C | CA400023573 | ITGB3 | c.712G>C (p.Val238Leu) c.677G>C | |
17 | g.47286357G>T | CA400023574 | ITGB3 | c.712G>T (p.Val238Leu) c.677G>T |