Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.47284604C>ACA400023038ITGB3c.523C>A (p.Leu175Met)
c.488C>A
17g.47284604C>GCA400023039ITGB3c.523C>G (p.Leu175Val)
c.488C>G
gnomAD v3 gnomAD v4
17g.47284604C>TCA500431697ITGB3c.523C>T (p.Leu175=)
c.488C>T
17g.47284605T>ACA400023042ITGB3c.524T>A (p.Leu175Gln)
c.489T>A
17g.47284605T>CCA400023044ITGB3c.524T>C (p.Leu175Pro)
c.489T>C
17g.47284605T>GCA400023046ITGB3c.524T>G (p.Leu175Arg)
c.489T>G
17g.47284606G>ACA500431700ITGB3c.525G>A (p.Leu175=)
c.490G>A
17g.47284606G>CCA500431702ITGB3c.525G>C (p.Leu175=)
c.490G>C
17g.47284606G=CA2262605332ITGB3c.525G= (p.Leu175=)
c.490G=
17g.47284606G>TCA500431704ITGB3c.525G>T (p.Leu175=)
c.490G>T
ClinVar dbSNP gnomAD v4
17g.47284607C>ACA500431705ITGB3c.526C>A (p.Arg176=)
c.491C>A
COSMIC COSMIC COSMIC
17g.47284607C=CA2262605333ITGB3c.526C= (p.Arg176=)
c.491C=
17g.47284607C>GCA400023049ITGB3c.526C>G (p.Arg176Gly)
c.491C>G
17g.47284607C>TCA8622969ITGB3c.526C>T (p.Arg176Trp)
c.491C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.47284608G>ACA400023052ITGB3c.527G>A (p.Arg176Gln)
c.492G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47284608G>CCA400023053ITGB3c.527G>C (p.Arg176Pro)
c.492G>C
17g.47284608G=CA2262605334ITGB3c.527G= (p.Arg176=)
c.492G=
17g.47284608G>TCA400023056ITGB3c.527G>T (p.Arg176Leu)
c.492G>T
17g.47284609G>ACA500431709ITGB3c.528G>A (p.Arg176=)
c.493G>A
17g.47284609G>CCA500431711ITGB3c.528G>C (p.Arg176=)
c.493G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47284609G=CA2262605335ITGB3c.528G= (p.Arg176=)
c.493G=
17g.47284609G>TCA500431710ITGB3c.528G>T (p.Arg176=)
c.493G>T
gnomAD v4
17g.47284610A=CA2262605336ITGB3c.529A= (p.Ile177=)
c.494A=
17g.47284610A>CCA400023058ITGB3c.529A>C (p.Ile177Leu)
c.494A>C
17g.47284610A>GCA8622970ITGB3c.529A>G (p.Ile177Val)
c.494A>G
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284610A>TCA400023062ITGB3c.529A>T (p.Ile177Phe)
c.494A>T
17g.47284611T>ACA400023064ITGB3c.530T>A (p.Ile177Asn)
c.495T>A
17g.47284611T>CCA400023067ITGB3c.530T>C (p.Ile177Thr)
c.495T>C
17g.47284611T>GCA400023068ITGB3c.530T>G (p.Ile177Ser)
c.495T>G
17g.47284612T>ACA500431717ITGB3c.531T>A (p.Ile177=)
c.496T>A
17g.47284612T>CCA500431716ITGB3c.531T>C (p.Ile177=)
c.496T>C
17g.47284612T>GCA400023070ITGB3c.531T>G (p.Ile177Met)
c.496T>G
17g.47284613G>ACA400023072ITGB3c.532G>A (p.Gly178Ser)
c.497G>A
17g.47284613G>CCA400023074ITGB3c.532G>C (p.Gly178Arg)
c.497G>C
17g.47284613G>TCA400023076ITGB3c.532G>T (p.Gly178Cys)
c.497G>T
17g.47284614G>ACA400023081ITGB3c.533G>A (p.Gly178Asp)
c.498G>A
17g.47284614G>CCA400023083ITGB3c.533G>C (p.Gly178Ala)
c.498G>C
17g.47284614G>TCA400023079ITGB3c.533G>T (p.Gly178Val)
c.498G>T
17g.47284615C>ACA500431722ITGB3c.534C>A (p.Gly178=)
c.499C>A
17g.47284615C>GCA500431720ITGB3c.534C>G (p.Gly178=)
c.499C>G
17g.47284615C>TCA500431721ITGB3c.534C>T (p.Gly178=)
c.499C>T
17g.47284616T>ACA400023086ITGB3c.535T>A (p.Phe179Ile)
c.500T>A
17g.47284616T>CCA400023088ITGB3c.535T>C (p.Phe179Leu)
c.500T>C
17g.47284616T>GCA400023090ITGB3c.535T>G (p.Phe179Val)
c.500T>G
17g.47284617T>ACA400023093ITGB3c.536T>A (p.Phe179Tyr)
c.501T>A
dbSNP gnomAD v3 gnomAD v4
17g.47284617T>CCA400023095ITGB3c.536T>C (p.Phe179Ser)
c.501T>C
17g.47284617T>GCA400023098ITGB3c.536T>G (p.Phe179Cys)
c.501T>G
17g.47284617T=CA2262605337ITGB3c.536T= (p.Phe179=)
c.501T=
17g.47284618C>ACA400023103ITGB3c.537C>A (p.Phe179Leu)
c.502C>A
17g.47284618C=CA2262605338ITGB3c.537C= (p.Phe179=)
c.502C=
17g.47284618C>GCA400023101ITGB3c.537C>G (p.Phe179Leu)
c.502C>G
17g.47284618C>TCA8622971ITGB3c.537C>T (p.Phe179=)
c.502C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284619G>ACA8622972ITGB3c.538G>A (p.Gly180Arg)
c.503G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284619G>CCA400023107ITGB3c.538G>C (p.Gly180Arg)
c.503G>C
gnomAD v4
17g.47284619G=CA2262605339ITGB3c.538G= (p.Gly180=)
c.503G=
17g.47284619G>TCA400023110ITGB3c.538G>T (p.Gly180Trp)
c.503G>T
17g.47284620G>ACA400023112ITGB3c.539G>A (p.Gly180Glu)
c.504G>A
17g.47284620G>CCA400023114ITGB3c.539G>C (p.Gly180Ala)
c.504G>C
17g.47284620G>TCA400023115ITGB3c.539G>T (p.Gly180Val)
c.504G>T
17g.47284621G>ACA500431729ITGB3c.540G>A (p.Gly180=)
c.505G>A
gnomAD v4
17g.47284621G>CCA500431730ITGB3c.540G>C (p.Gly180=)
c.505G>C
17g.47284621G>TCA500431731ITGB3c.540G>T (p.Gly180=)
c.505G>T
17g.47284622G>ACA400023116ITGB3c.541G>A (p.Ala181Thr)
c.506G>A
ClinVar gnomAD v4
17g.47284622G>CCA400023117ITGB3c.541G>C (p.Ala181Pro)
c.506G>C
17g.47284622G=CA2262605340ITGB3c.541G= (p.Ala181=)
c.506G=
17g.47284622G>TCA8622973ITGB3c.541G>T (p.Ala181Ser)
c.506G>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284623C>ACA400023118ITGB3c.542C>A (p.Ala181Glu)
c.507C>A
17g.47284623C=CA2262605341ITGB3c.542C= (p.Ala181=)
c.507C=
17g.47284623C>GCA400023119ITGB3c.542C>G (p.Ala181Gly)
c.507C>G
17g.47284623C>TCA400023120ITGB3c.542C>T (p.Ala181Val)
c.507C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47284624A=CA2262605342ITGB3c.543A= (p.Ala181=)
c.508A=
17g.47284624A>CCA500431735ITGB3c.543A>C (p.Ala181=)
c.508A>C
17g.47284624A>GCA500431736ITGB3c.543A>G (p.Ala181=)
c.508A>G
dbSNP gnomAD v4 COSMIC COSMIC COSMIC
17g.47284624A>TCA8622974ITGB3c.543A>T (p.Ala181=)
c.508A>T
dbSNP ExAC gnomAD v2
17g.47284625T>ACA400023121ITGB3c.544T>A (p.Phe182Ile)
c.509T>A
17g.47284625T>CCA400023122ITGB3c.544T>C (p.Phe182Leu)
c.509T>C
17g.47284625T>GCA400023123ITGB3c.544T>G (p.Phe182Val)
c.509T>G
17g.47284626T>ACA400023124ITGB3c.545T>A (p.Phe182Tyr)
c.510T>A
17g.47284626T>CCA400023125ITGB3c.545T>C (p.Phe182Ser)
c.510T>C
17g.47284626T>GCA400023126ITGB3c.545T>G (p.Phe182Cys)
c.510T>G
17g.47284627T>ACA400023127ITGB3c.546T>A (p.Phe182Leu)
c.511T>A
17g.47284627T>CCA500431738ITGB3c.546T>C (p.Phe182=)
c.511T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.47284627T>GCA400023128ITGB3c.546T>G (p.Phe182Leu)
c.511T>G
17g.47284627T=CA2262605343ITGB3c.546T= (p.Phe182=)
c.511T=
17g.47284628G>ACA400023129ITGB3c.547G>A (p.Val183Met)
c.512G>A
17g.47284628G>CCA400023131ITGB3c.547G>C (p.Val183Leu)
c.512G>C
17g.47284628G>TCA400023130ITGB3c.547G>T (p.Val183Leu)
c.512G>T
17g.47284629T>ACA400023132ITGB3c.548T>A (p.Val183Glu)
c.513T>A
17g.47284629T>CCA400023133ITGB3c.548T>C (p.Val183Ala)
c.513T>C
17g.47284629T>GCA8622975ITGB3c.548T>G (p.Val183Gly)
c.513T>G
dbSNP ExAC
17g.47284629T=CA2262605344ITGB3c.548T= (p.Val183=)
c.513T=
17g.47284630G>ACA500431741ITGB3c.549G>A (p.Val183=)
c.514G>A
17g.47284630G>CCA500431742ITGB3c.549G>C (p.Val183=)
c.514G>C
17g.47284630G>TCA500431743ITGB3c.549G>T (p.Val183=)
c.514G>T
gnomAD v4
17g.47284631G>ACA8622976ITGB3c.550G>A (p.Asp184Asn)
c.515G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284631G>CCA400023136ITGB3c.550G>C (p.Asp184His)
c.515G>C
17g.47284631G=CA2262605345ITGB3c.550G= (p.Asp184=)
c.515G=
17g.47284631G>TCA400023138ITGB3c.550G>T (p.Asp184Tyr)
c.515G>T
17g.47284632A>CCA400023144ITGB3c.551A>C (p.Asp184Ala)
c.516A>C
17g.47284632A>GCA400023141ITGB3c.551A>G (p.Asp184Gly)
c.516A>G
17g.47284632A>TCA400023143ITGB3c.551A>T (p.Asp184Val)
c.516A>T
17g.47284633C>ACA8622977ITGB3c.552C>A (p.Asp184Glu)
c.517C>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284633C=CA2262605346ITGB3c.552C= (p.Asp184=)
c.517C=
17g.47284633C>GCA400023147ITGB3c.552C>G (p.Asp184Glu)
c.517C>G
17g.47284633C>TCA500431749ITGB3c.552C>T (p.Asp184=)
c.517C>T
17g.47284634A>CCA400023148ITGB3c.553A>C (p.Lys185Gln)
c.518A>C
COSMIC COSMIC COSMIC
17g.47284634A>GCA400023151ITGB3c.553A>G (p.Lys185Glu)
c.518A>G
17g.47284634A>TCA400023153ITGB3c.553A>T (p.Lys185Ter)
c.518A>T
17g.47284635A>CCA400023156ITGB3c.554A>C (p.Lys185Thr)
c.519A>C
COSMIC COSMIC COSMIC
17g.47284635A>GCA400023160ITGB3c.554A>G (p.Lys185Arg)
c.519A>G
17g.47284635A>TCA400023158ITGB3c.554A>T (p.Lys185Met)
c.519A>T
17g.47284636G>ACA500431754ITGB3c.555G>A (p.Lys185=)
c.520G>A
COSMIC COSMIC COSMIC
17g.47284636G>CCA400023163ITGB3c.555G>C (p.Lys185Asn)
c.520G>C
gnomAD v4
17g.47284636G>TCA400023165ITGB3c.555G>T (p.Lys185Asn)
c.520G>T
ClinVar dbSNP gnomAD v4
17g.47284637C>ACA400023167ITGB3c.556C>A (p.Pro186Thr)
c.521C>A
dbSNP
17g.47284637C=CA2262605347ITGB3c.556C= (p.Pro186=)
c.521C=
17g.47284637C>GCA8622979ITGB3c.556C>G (p.Pro186Ala)
c.521C>G
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284637C>TCA8622978ITGB3c.556C>T (p.Pro186Ser)
c.521C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284638C>ACA400023173ITGB3c.557C>A (p.Pro186His)
c.522C>A
gnomAD v4
17g.47284638C=CA2262605348ITGB3c.557C= (p.Pro186=)
c.522C=
17g.47284638C>GCA400023176ITGB3c.557C>G (p.Pro186Arg)
c.522C>G
17g.47284638C>TCA8622980ITGB3c.557C>T (p.Pro186Leu)
c.522C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284639T>ACA500431756ITGB3c.558T>A (p.Pro186=)
c.523T>A
17g.47284639T>CCA500431757ITGB3c.558T>C (p.Pro186=)
c.523T>C
17g.47284639T>GCA500431759ITGB3c.558T>G (p.Pro186=)
c.523T>G
17g.47284640G>ACA400023179ITGB3c.559G>A (p.Val187Met)
c.524G>A
17g.47284640G>CCA400023185ITGB3c.559G>C (p.Val187Leu)
c.524G>C
17g.47284640G>TCA400023187ITGB3c.559G>T (p.Val187Leu)
c.524G>T
17g.47284641T>ACA400023188ITGB3c.560T>A (p.Val187Glu)
c.525T>A
17g.47284641T>CCA400023193ITGB3c.560T>C (p.Val187Ala)
c.525T>C
17g.47284641T>GCA400023191ITGB3c.560T>G (p.Val187Gly)
c.525T>G
17g.47284642G>ACA500431762ITGB3c.561G>A (p.Val187=)
c.526G>A
17g.47284642G>CCA500431763ITGB3c.561G>C (p.Val187=)
c.526G>C
17g.47284642G>TCA500431764ITGB3c.561G>T (p.Val187=)
c.526G>T
gnomAD v4
17g.47284643T>ACA400023196ITGB3c.562T>A (p.Ser188Thr)
c.527T>A
17g.47284643T>CCA400023200ITGB3c.562T>C (p.Ser188Pro)
c.527T>C
17g.47284643T>GCA400023199ITGB3c.562T>G (p.Ser188Ala)
c.527T>G
17g.47284644C>ACA400023203ITGB3c.563C>A (p.Ser188Ter)
c.528C>A
17g.47284644C=CA2262605349ITGB3c.563C= (p.Ser188=)
c.528C=
17g.47284644C>GCA400023205ITGB3c.563C>G (p.Ser188Ter)
c.528C>G
17g.47284644C>TCA8622981ITGB3c.563C>T (p.Ser188Leu)
c.528C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284645A>CCA500431767ITGB3c.564A>C (p.Ser188=)
c.529A>C
17g.47284645A>GCA500431769ITGB3c.564A>G (p.Ser188=)
c.529A>G
17g.47284645A>TCA500431768ITGB3c.564A>T (p.Ser188=)
c.529A>T
17g.47284646C>ACA400023208ITGB3c.565C>A (p.Pro189Thr)
c.530C>A
17g.47284646C=CA2262605350ITGB3c.565C= (p.Pro189=)
c.530C=
17g.47284646C>GCA400023210ITGB3c.565C>G (p.Pro189Ala)
c.530C>G
17g.47284646C>TCA291224669ITGB3c.565C>T (p.Pro189Ser)
c.530C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47284647C>ACA400023214ITGB3c.566C>A (p.Pro189Gln)
c.531C>A
17g.47284647C>GCA400023217ITGB3c.566C>G (p.Pro189Arg)
c.531C>G
17g.47284647C>TCA400023219ITGB3c.566C>T (p.Pro189Leu)
c.531C>T
17g.47284647_47284648delinsCACA2262605351ITGB3c.566_567delinsCA (p.Pro189=)
c.531_532delinsCA
17g.47284648delCA8622982ITGB3c.567del (p.Tyr190ThrfsTer17)
c.532del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284648A=CA2262605352ITGB3c.567A= (p.Pro189=)
c.532A=
17g.47284648A>CCA8622983ITGB3c.567A>C (p.Pro189=)
c.532A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284648A>GCA8622984ITGB3c.567A>G (p.Pro189=)
c.532A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284648A>TCA500431770ITGB3c.567A>T (p.Pro189=)
c.532A>T
17g.47284649T>ACA400023230ITGB3c.568T>A (p.Tyr190Asn)
c.533T>A
17g.47284649T>CCA291224672ITGB3c.568T>C (p.Tyr190His)
c.533T>C
dbSNP gnomAD v3 gnomAD v4
17g.47284649T>GCA400023228ITGB3c.568T>G (p.Tyr190Asp)
c.533T>G
17g.47284649T=CA2262605353ITGB3c.568T= (p.Tyr190=)
c.533T=
17g.47284650A=CA2262605354ITGB3c.569A= (p.Tyr190=)
c.534A=
17g.47284650A>CCA400023234ITGB3c.569A>C (p.Tyr190Ser)
c.534A>C
dbSNP gnomAD v2
17g.47284650A>GCA400023236ITGB3c.569A>G (p.Tyr190Cys)
c.534A>G
COSMIC
17g.47284650A>TCA400023238ITGB3c.569A>T (p.Tyr190Phe)
c.534A>T
17g.47284651C>ACA400023240ITGB3c.570C>A (p.Tyr190Ter)
c.535C>A
dbSNP gnomAD v4
17g.47284651C=CA2262605355ITGB3c.570C= (p.Tyr190=)
c.535C=
17g.47284651C>GCA400023242ITGB3c.570C>G (p.Tyr190Ter)
c.535C>G
17g.47284651C>TCA500431774ITGB3c.570C>T (p.Tyr190=)
c.535C>T
17g.47284652A=CA2262605356ITGB3c.571A= (p.Met191=)
c.536A=
17g.47284652A>CCA400023243ITGB3c.571A>C (p.Met191Leu)
c.536A>C
17g.47284652A>GCA8622985ITGB3c.571A>G (p.Met191Val)
c.536A>G
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284652A>TCA400023244ITGB3c.571A>T (p.Met191Leu)
c.536A>T
17g.47284653T>ACA400023245ITGB3c.572T>A (p.Met191Lys)
c.537T>A
17g.47284653T>CCA8622986ITGB3c.572T>C (p.Met191Thr)
c.537T>C
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284653T>GCA400023246ITGB3c.572T>G (p.Met191Arg)
c.537T>G
17g.47284653T=CA2262605357ITGB3c.572T= (p.Met191=)
c.537T=
17g.47284654G>ACA400023249ITGB3c.573G>A (p.Met191Ile)
c.538G>A
17g.47284654G>CCA400023248ITGB3c.573G>C (p.Met191Ile)
c.538G>C
17g.47284654G>TCA400023247ITGB3c.573G>T (p.Met191Ile)
c.538G>T
17g.47284655T>ACA400023250ITGB3c.574T>A (p.Tyr192Asn)
c.539T>A
17g.47284655T>CCA400023251ITGB3c.574T>C (p.Tyr192His)
c.539T>C
17g.47284655T>GCA400023252ITGB3c.574T>G (p.Tyr192Asp)
c.539T>G
17g.47284656A=CA2262605358ITGB3c.575A= (p.Tyr192=)
c.540A=
17g.47284656A>CCA400023253ITGB3c.575A>C (p.Tyr192Ser)
c.540A>C
dbSNP
17g.47284656A>GCA8622987ITGB3c.575A>G (p.Tyr192Cys)
c.540A>G
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284656A>TCA400023254ITGB3c.575A>T (p.Tyr192Phe)
c.540A>T
gnomAD v4
17g.47284657T>ACA400023255ITGB3c.576T>A (p.Tyr192Ter)
c.541T>A
17g.47284657T>CCA8622988ITGB3c.576T>C (p.Tyr192=)
c.541T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284657T>GCA400023256ITGB3c.576T>G (p.Tyr192Ter)
c.541T>G
17g.47284657T=CA2262605359ITGB3c.576T= (p.Tyr192=)
c.541T=
17g.47284657dupCA2809686271ITGB3c.576dup (p.Ile193TyrfsTer13)
c.541dup
17g.47284658A>CCA400023257ITGB3c.577A>C (p.Ile193Leu)
c.542A>C
17g.47284658A>GCA400023258ITGB3c.577A>G (p.Ile193Val)
c.542A>G
17g.47284658A>TCA400023259ITGB3c.577A>T (p.Ile193Phe)
c.542A>T
17g.47284659T>ACA400023262ITGB3c.578T>A (p.Ile193Asn)
c.543T>A
17g.47284659T>CCA400023261ITGB3c.578T>C (p.Ile193Thr)
c.543T>C
17g.47284659T>GCA400023260ITGB3c.578T>G (p.Ile193Ser)
c.543T>G
17g.47284660C>ACA500431786ITGB3c.579C>A (p.Ile193=)
c.544C>A
17g.47284660C>GCA400023263ITGB3c.579C>G (p.Ile193Met)
c.544C>G
17g.47284660C>TCA500431787ITGB3c.579C>T (p.Ile193=)
c.544C>T
17g.47284661T>ACA400023264ITGB3c.580T>A (p.Ser194Thr)
c.545T>A
17g.47284661T>CCA400023265ITGB3c.580T>C (p.Ser194Pro)
c.545T>C
17g.47284661T>GCA400023266ITGB3c.580T>G (p.Ser194Ala)
c.545T>G
17g.47284662C>ACA400023267ITGB3c.581C>A (p.Ser194Tyr)
c.546C>A
17g.47284662C>GCA400023268ITGB3c.581C>G (p.Ser194Cys)
c.546C>G
17g.47284662C>TCA400023269ITGB3c.581C>T (p.Ser194Phe)
c.546C>T
gnomAD v4 COSMIC COSMIC COSMIC
17g.47284663C>ACA500431789ITGB3c.582C>A (p.Ser194=)
c.547C>A
17g.47284663C>GCA500431792ITGB3c.582C>G (p.Ser194=)
c.547C>G
17g.47284663C>TCA500431790ITGB3c.582C>T (p.Ser194=)
c.547C>T
ClinVar gnomAD v4
17g.47284664C>ACA400023270ITGB3c.583C>A (p.Pro195Thr)
c.548C>A
17g.47284664C>GCA400023271ITGB3c.583C>G (p.Pro195Ala)
c.548C>G
17g.47284664C>TCA400023272ITGB3c.583C>T (p.Pro195Ser)
c.548C>T
gnomAD v4
17g.47284665C>ACA400023273ITGB3c.584C>A (p.Pro195Gln)
c.549C>A
17g.47284665C>GCA400023274ITGB3c.584C>G (p.Pro195Arg)
c.549C>G
17g.47284665C>TCA400023275ITGB3c.584C>T (p.Pro195Leu)
c.549C>T
17g.47284666A>CCA500431795ITGB3c.585A>C (p.Pro195=)
c.550A>C
gnomAD v4
17g.47284666A>GCA500431797ITGB3c.585A>G (p.Pro195=)
c.550A>G
17g.47284666A>TCA500431796ITGB3c.585A>T (p.Pro195=)
c.550A>T
17g.47284667C>ACA400023277ITGB3c.586C>A (p.Pro196Thr)
c.551C>A
17g.47284667C>GCA400023278ITGB3c.586C>G (p.Pro196Ala)
c.551C>G
17g.47284667C>TCA400023276ITGB3c.586C>T (p.Pro196Ser)
c.551C>T
17g.47284668C>ACA400023280ITGB3c.587C>A (p.Pro196Gln)
c.552C>A
17g.47284668C>GCA400023279ITGB3c.587C>G (p.Pro196Arg)
c.552C>G
17g.47284668C>TCA400023281ITGB3c.587C>T (p.Pro196Leu)
c.552C>T
17g.47284669A>CCA500431801ITGB3c.588A>C (p.Pro196=)
c.553A>C
17g.47284669A>GCA500431800ITGB3c.588A>G (p.Pro196=)
c.553A>G
17g.47284669A>TCA500431799ITGB3c.588A>T (p.Pro196=)
c.553A>T
17g.47284670G>ACA400023282ITGB3c.589G>A (p.Glu197Lys)
c.554G>A
17g.47284670G>CCA400023284ITGB3c.589G>C (p.Glu197Gln)
c.554G>C
17g.47284670G>TCA400023283ITGB3c.589G>T (p.Glu197Ter)
c.554G>T
17g.47284671A=CA2262605360ITGB3c.590A= (p.Glu197=)
c.555A=
17g.47284671A>CCA400023285ITGB3c.590A>C (p.Glu197Ala)
c.555A>C
dbSNP
17g.47284671A>GCA400023286ITGB3c.590A>G (p.Glu197Gly)
c.555A>G
17g.47284671A>TCA400023287ITGB3c.590A>T (p.Glu197Val)
c.555A>T
17g.47284672G>ACA500431803ITGB3c.591G>A (p.Glu197=)
c.556G>A
dbSNP
17g.47284672G>CCA400023288ITGB3c.591G>C (p.Glu197Asp)
c.556G>C
17g.47284672G=CA2262605361ITGB3c.591G= (p.Glu197=)
c.556G=
17g.47284672G>TCA400023289ITGB3c.591G>T (p.Glu197Asp)
c.556G>T
17g.47284673G>ACA400023290ITGB3c.592G>A (p.Ala198Thr)
c.557G>A
17g.47284673G>CCA400023291ITGB3c.592G>C (p.Ala198Pro)
c.557G>C
17g.47284673G>TCA400023292ITGB3c.592G>T (p.Ala198Ser)
c.557G>T
17g.47284674C>ACA400023293ITGB3c.593C>A (p.Ala198Asp)
c.558C>A
17g.47284674C>GCA400023294ITGB3c.593C>G (p.Ala198Gly)
c.558C>G
17g.47284674C>TCA400023295ITGB3c.593C>T (p.Ala198Val)
c.558C>T
17g.47284675C>ACA500431808ITGB3c.594C>A (p.Ala198=)
c.559C>A
dbSNP
17g.47284675C=CA2262605362ITGB3c.594C= (p.Ala198=)
c.559C=
17g.47284675C>GCA500431809ITGB3c.594C>G (p.Ala198=)
c.559C>G
17g.47284675C>TCA8622989ITGB3c.594C>T (p.Ala198=)
c.559C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.47284676C>ACA400023298ITGB3c.595C>A (p.Leu199Ile)
c.560C>A
dbSNP
17g.47284676C=CA2262605363ITGB3c.595C= (p.Leu199=)
c.560C=
17g.47284676C>GCA400023296ITGB3c.595C>G (p.Leu199Val)
c.560C>G
17g.47284676C>TCA400023297ITGB3c.595C>T (p.Leu199Phe)
c.560C>T
17g.47284677T>ACA400023299ITGB3c.596T>A (p.Leu199His)
c.561T>A
17g.47284677T>CCA400023300ITGB3c.596T>C (p.Leu199Pro)
c.561T>C
gnomAD v4
17g.47284677T>GCA400023301ITGB3c.596T>G (p.Leu199Arg)
c.561T>G
17g.47284678C>ACA291224676ITGB3c.597C>A (p.Leu199=)
c.562C>A
dbSNP gnomAD v3
17g.47284678C=CA2262605364ITGB3c.597C= (p.Leu199=)
c.562C=
17g.47284678C>GCA500431810ITGB3c.597C>G (p.Leu199=)
c.562C>G
17g.47284678C>TCA291224678ITGB3c.597C>T (p.Leu199=)
c.562C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.47284679G>ACA8622990ITGB3c.598G>A (p.Glu200Lys)
c.563G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.47284679G>CCA400023302ITGB3c.598G>C (p.Glu200Gln)
c.563G>C
17g.47284679G=CA2262605365ITGB3c.598G= (p.Glu200=)
c.563G=
17g.47284679G>TCA400023303ITGB3c.598G>T (p.Glu200Ter)
c.563G>T
17g.47284679_47284680delinsGACA2262605366ITGB3c.598_599delinsGA (p.Glu200=)
c.563_564delinsGA
17g.47284680A>CCA400023304ITGB3c.599A>C (p.Glu200Ala)
c.564A>C
17g.47284680A>GCA400023305ITGB3c.599A>G (p.Glu200Gly)
c.564A>G
17g.47284680A>TCA400023306ITGB3c.599A>T (p.Glu200Val)
c.564A>T
17g.47284683delCA8622991ITGB3c.602del (p.Asn201ThrfsTer6)
c.567del
ClinVar dbSNP ExAC gnomAD v2
17g.47284681A>CCA400023307ITGB3c.600A>C (p.Glu200Asp)
c.565A>C
17g.47284681A>GCA500431811ITGB3c.600A>G (p.Glu200=)
c.565A>G
17g.47284681A>TCA400023308ITGB3c.600A>T (p.Glu200Asp)
c.565A>T
17g.47284682A>CCA400023309ITGB3c.601A>C (p.Asn201His)
c.566A>C
17g.47284682A>GCA400023310ITGB3c.601A>G (p.Asn201Asp)
c.566A>G
17g.47284682A>TCA400023311ITGB3c.601A>T (p.Asn201Tyr)
c.566A>T
17g.47284683A=CA2262605368ITGB3c.602A= (p.Asn201=)
c.567A=
17g.47284683A>CCA400023312ITGB3c.602A>C (p.Asn201Thr)
c.567A>C
17g.47284683A>GCA400023313ITGB3c.602A>G (p.Asn201Ser)
c.567A>G
17g.47284683A>TCA400023314ITGB3c.602A>T (p.Asn201Ile)
c.567A>T
dbSNP
17g.47284683_47284684delinsACCA2262605367ITGB3c.602_603delinsAC (p.Asn201=)
c.567_568delinsAC
17g.47284684C>ACA400023316ITGB3c.603C>A (p.Asn201Lys)
c.568C>A
ClinVar dbSNP
17g.47284684C=CA2262605369ITGB3c.603C= (p.Asn201=)
c.568C=
17g.47284684C>GCA400023315ITGB3c.603C>G (p.Asn201Lys)
c.568C>G
dbSNP gnomAD v2 gnomAD v4
17g.47284684C>TCA500431812ITGB3c.603C>T (p.Asn201=)
c.568C>T
17g.47284687delCA626378543ITGB3c.606del (p.Cys203AlafsTer4)
c.571del
dbSNP gnomAD v2 gnomAD v4
17g.47284685C>ACA400023317ITGB3c.604C>A (p.Pro202Thr)
c.569C>A
17g.47284685C>GCA400023318ITGB3c.604C>G (p.Pro202Ala)
c.569C>G
17g.47284685C>TCA400023319ITGB3c.604C>T (p.Pro202Ser)
c.569C>T
17g.47284686C>ACA400023320ITGB3c.605C>A (p.Pro202His)
c.570C>A
17g.47284686C=CA2262605370ITGB3c.605C= (p.Pro202=)
c.570C=
17g.47284686C>GCA400023321ITGB3c.605C>G (p.Pro202Arg)
c.570C>G
dbSNP
17g.47284686C>TCA8622992ITGB3c.605C>T (p.Pro202Leu)
c.570C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284687C>ACA500431814ITGB3c.606C>A (p.Pro202=)
c.571C>A
17g.47284687C=CA2262605371ITGB3c.606C= (p.Pro202=)
c.571C=
17g.47284687C>GCA500431815ITGB3c.606C>G (p.Pro202=)
c.571C>G
17g.47284687C>TCA500431813ITGB3c.606C>T (p.Pro202=)
c.571C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.47284688T>ACA400023322ITGB3c.607T>A (p.Cys203Ser)
c.572T>A
17g.47284688T>CCA400023324ITGB3c.607T>C (p.Cys203Arg)
c.572T>C
17g.47284688T>GCA400023323ITGB3c.607T>G (p.Cys203Gly)
c.572T>G
17g.47284689G>ACA8622993ITGB3c.608G>A (p.Cys203Tyr)
c.573G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284689G>CCA400023325ITGB3c.608G>C (p.Cys203Ser)
c.573G>C
17g.47284689G=CA2262605372ITGB3c.608G= (p.Cys203=)
c.573G=
17g.47284689G>TCA400023326ITGB3c.608G>T (p.Cys203Phe)
c.573G>T
17g.47284690C>ACA400023327ITGB3c.609C>A (p.Cys203Ter)
c.574C>A
17g.47284690C>GCA400023328ITGB3c.609C>G (p.Cys203Trp)
c.574C>G
17g.47284690C>TCA500431816ITGB3c.609C>T (p.Cys203=)
c.574C>T
17g.47284691T>ACA400023329ITGB3c.610T>A (p.Tyr204Asn)
c.575T>A
17g.47284691T>CCA400023330ITGB3c.610T>C (p.Tyr204His)
c.575T>C
COSMIC COSMIC COSMIC
17g.47284691T>GCA400023331ITGB3c.610T>G (p.Tyr204Asp)
c.575T>G
gnomAD v4
17g.47284691dupCA2576302224ITGB3c.610dup (p.Tyr204LeufsTer2)
c.575dup
17g.47284692A=CA2262605373ITGB3c.611A= (p.Tyr204=)
c.576A=
17g.47284692A>CCA400023332ITGB3c.611A>C (p.Tyr204Ser)
c.576A>C
17g.47284692A>GCA8622994ITGB3c.611A>G (p.Tyr204Cys)
c.576A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284692A>TCA400023333ITGB3c.611A>T (p.Tyr204Phe)
c.576A>T
17g.47284692_47284693delinsATCA2262605374ITGB3c.611_612delinsAT (p.Tyr204=)
c.576_577delinsAT
17g.47284693delCA772536395ITGB3c.612del (p.Tyr204Ter)
c.577del
dbSNP
17g.47284693T>ACA400023335ITGB3c.612T>A (p.Tyr204Ter)
c.577T>A
17g.47284693T>CCA500431817ITGB3c.612T>C (p.Tyr204=)
c.577T>C
17g.47284693T>GCA400023334ITGB3c.612T>G (p.Tyr204Ter)
c.577T>G
17g.47284694_47284697delCA915940309ITGB3c.613_614+2del
c.578_579+2del
ClinVar dbSNP
17g.47284694G>ACA400023336ITGB3c.613G>A (p.Asp205Asn)
c.578G>A
17g.47284694G>CCA400023338ITGB3c.613G>C (p.Asp205His)
c.578G>C
17g.47284694G>TCA400023337ITGB3c.613G>T (p.Asp205Tyr)
c.578G>T
gnomAD v4
17g.47284695A>CCA400023339ITGB3c.614A>C (p.Asp205Ala)
c.579A>C
COSMIC COSMIC COSMIC
17g.47284695A>GCA400023340ITGB3c.614A>G (p.Asp205Gly)
c.579A>G
gnomAD v4
17g.47284695A>TCA400023341ITGB3c.614A>T (p.Asp205Val)
c.579A>T
17g.47284698_47284701delCA2576302225ITGB3c.614+3_614+6del
c.579+3_579+6del
17g.47284696G>ACA400023342ITGB3c.614+1G>A (n.614+1G>A)
c.579+1G>A
gnomAD v4
17g.47284696G>CCA400023343ITGB3c.614+1G>C (n.614+1G>C)
c.579+1G>C
dbSNP gnomAD v4
17g.47284696G=CA2262605375ITGB3c.614+1G= (n.614+1G=)
c.579+1G=
17g.47284696G>TCA400023344ITGB3c.614+1G>T (n.614+1G>T)
c.579+1G>T
ClinVar dbSNP
17g.47284697T>ACA400023345ITGB3c.614+2T>A (n.614+2T>A)
c.579+2T>A
17g.47284697T>CCA400023346ITGB3c.614+2T>C (n.614+2T>C)
c.579+2T>C
17g.47284697T>GCA400023347ITGB3c.614+2T>G (n.614+2T>G)
c.579+2T>G
17g.47284700G>CCA2499224678ITGB3c.614+5G>C (n.614+5G>C)
c.579+5G>C
ClinVar dbSNP gnomAD v4
17g.47284704C>ACA2697560135ITGB3c.614+9C>A (n.614+9C>A)
c.579+9C>A
ClinVar

Number of alleles fetched