Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
17g.47284706C>TCA2563413898ITGB3c.614+11C>T (n.614+11C>T)
c.579+11C>T
17g.47284709C>ACA2740093774ITGB3c.614+14C>A (n.614+14C>A)
c.579+14C>A
ClinVar
17g.47284709C=CA2262605377ITGB3c.614+14C= (n.614+14C=)
c.579+14C=
17g.47284709C>GCA2262605376ITGB3c.614+14C>G (n.614+14C>G)
c.579+14C>G
ClinVar dbSNP
17g.47284710C>ACA2576302226ITGB3c.614+15C>A (n.614+15C>A)
c.579+15C>A
17g.47284710C=CA2262605378ITGB3c.614+15C= (n.614+15C=)
c.579+15C=
17g.47284710C>TCA8622995ITGB3c.614+15C>T (n.614+15C>T)
c.579+15C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284712_47284713delCA2739268193ITGB3c.614+17_614+18del (n.614+17_614+18del)
c.579+17_579+18del
ClinVar
17g.47284714C>ACA8622996ITGB3c.614+19C>A (n.614+19C>A)
c.579+19C>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284714C=CA2262605379ITGB3c.614+19C= (n.614+19C=)
c.579+19C=
17g.47284714C>TCA8622997ITGB3c.614+19C>T (n.614+19C>T)
c.579+19C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284714_47284715delinsCGCA2262605380ITGB3c.614+19_614+20delinsCG (n.614+19_614+20delinsCG)
c.579+19_579+20delinsCG
17g.47284715delCA2262605381ITGB3c.614+20del (n.614+20del)
c.579+20del
dbSNP
17g.47284715G>ACA626378548ITGB3c.614+20G>A (n.614+20G>A)
c.579+20G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.47284715G=CA2262605382ITGB3c.614+20G= (n.614+20G=)
c.579+20G=
17g.47284719G>ACA8622998ITGB3c.614+24G>A (n.614+24G>A)
c.579+24G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47284719G=CA2262605383ITGB3c.614+24G= (n.614+24G=)
c.579+24G=
17g.47284721A=CA2262605384ITGB3c.614+26A= (n.614+26A=)
c.579+26A=
17g.47284721A>GCA626378550ITGB3c.614+26A>G (n.614+26A>G)
c.579+26A>G
dbSNP gnomAD v2 gnomAD v4
17g.47284723A=CA2262605385ITGB3c.614+28A= (n.614+28A=)
c.579+28A=
17g.47284723A>CCA8622999ITGB3c.614+28A>C (n.614+28A>C)
c.579+28A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284724G>ACA2262605387ITGB3c.614+29G>A (n.614+29G>A)
c.579+29G>A
dbSNP gnomAD v4
17g.47284724G=CA2262605386ITGB3c.614+29G= (n.614+29G=)
c.579+29G=
17g.47284725C>ACA2638435395ITGB3c.614+30C>A (n.614+30C>A)
c.579+30C>A
gnomAD v4
17g.47284726A>GCA2576302227ITGB3c.614+31A>G (n.614+31A>G)
c.579+31A>G
17g.47284728C=CA2262605388ITGB3c.614+33C= (n.614+33C=)
c.579+33C=
17g.47284728C>GCA8623000ITGB3c.614+33C>G (n.614+33C>G)
c.579+33C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284730T>GCA2576302228ITGB3c.614+35T>G (n.614+35T>G)
c.579+35T>G
17g.47284732T>CCA2638435396ITGB3c.614+37T>C (n.614+37T>C)
c.579+37T>C
gnomAD v4
17g.47284736C>ACA2638435397ITGB3c.614+41C>A (n.614+41C>A)
c.579+41C>A
gnomAD v4
17g.47284736C>TCA2638435398ITGB3c.614+41C>T (n.614+41C>T)
c.579+41C>T
gnomAD v4
17g.47284738A=CA2262605389ITGB3c.614+43A= (n.614+43A=)
c.579+43A=
17g.47284738A>GCA2262605390ITGB3c.614+43A>G (n.614+43A>G)
c.579+43A>G
dbSNP
17g.47284740G>ACA8623001ITGB3c.614+45G>A (n.614+45G>A)
c.579+45G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284740G=CA2262605391ITGB3c.614+45G= (n.614+45G=)
c.579+45G=
17g.47284740G>TCA626378557ITGB3c.614+45G>T (n.614+45G>T)
c.579+45G>T
dbSNP gnomAD v2 gnomAD v4
17g.47284742A>TCA2638435399ITGB3c.614+47A>T (n.614+47A>T)
c.579+47A>T
gnomAD v4
17g.47284743G>ACA2809686272ITGB3c.614+48G>A (n.614+48G>A)
c.579+48G>A
17g.47284744G>TCA2638435400ITGB3c.614+49G>T (n.614+49G>T)
c.579+49G>T
gnomAD v4
17g.47284745T>CCA626378558ITGB3c.614+50T>C (n.614+50T>C)
c.579+50T>C
dbSNP gnomAD v2 gnomAD v4
17g.47284745T=CA2262605392ITGB3c.614+50T= (n.614+50T=)
c.579+50T=
17g.47284746C=CA2262605393ITGB3c.614+51C= (n.614+51C=)
c.579+51C=
17g.47284746C>TCA8623002ITGB3c.614+51C>T (n.614+51C>T)
c.579+51C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47284747C>ACA2638435401ITGB3c.614+52C>A (n.614+52C>A)
c.579+52C>A
gnomAD v4
17g.47284750delCA2638435402ITGB3c.614+55del (n.614+55del)
c.579+55del
gnomAD v4
17g.47284750G>CCA2548508669ITGB3c.614+55G>C (n.614+55G>C)
c.579+55G>C
gnomAD v4
17g.47284752C>GCA2576302229ITGB3c.614+57C>G (n.614+57C>G)
c.579+57C>G
17g.47284756G>TCA2576302230ITGB3c.614+61G>T (n.614+61G>T)
c.579+61G>T
17g.47284757T>GCA2638435403ITGB3c.614+62T>G (n.614+62T>G)
c.579+62T>G
gnomAD v4
17g.47284760C>ACA2576302231ITGB3c.614+65C>A (n.614+65C>A)
c.579+65C>A
17g.47284760C=CA2262605394ITGB3c.614+65C= (n.614+65C=)
c.579+65C=
17g.47284760C>GCA2262605395ITGB3c.614+65C>G (n.614+65C>G)
c.579+65C>G
dbSNP
17g.47284760C>TCA291224685ITGB3c.614+65C>T (n.614+65C>T)
c.579+65C>T
dbSNP gnomAD v3 gnomAD v4
17g.47284762A>GCA2638435404ITGB3c.614+67A>G (n.614+67A>G)
c.579+67A>G
gnomAD v4
17g.47284764_47284770delinsTTCTAGCCA2262605396ITGB3c.614+69_614+75delinsTTCTAGC (n.614+69_614+75delinsTTCTAGC)
c.579+69_579+75delinsTTCTAGC
17g.47284765T>CCA2638435405ITGB3c.614+70T>C (n.614+70T>C)
c.579+70T>C
gnomAD v4
17g.47284770_47284775delCA772536410ITGB3c.614+75_614+80del (n.614+75_614+80del)
c.579+75_579+80del
dbSNP gnomAD v3 gnomAD v4
17g.47284767T>CCA2638435406ITGB3c.614+72T>C (n.614+72T>C)
c.579+72T>C
gnomAD v4
17g.47284770C>GCA2576302232ITGB3c.614+75C>G (n.614+75C>G)
c.579+75C>G
17g.47284771T>CCA772536417ITGB3c.614+76T>C (n.614+76T>C)
c.579+76T>C
dbSNP
17g.47284771T>GCA2638435407ITGB3c.614+76T>G (n.614+76T>G)
c.579+76T>G
gnomAD v4
17g.47284771T=CA2262605397ITGB3c.614+76T= (n.614+76T=)
c.579+76T=
17g.47284772C>GCA2576302233ITGB3c.614+77C>G (n.614+77C>G)
c.579+77C>G
17g.47284773T>GCA2638435408ITGB3c.614+78T>G (n.614+78T>G)
c.579+78T>G
gnomAD v4

Number of alleles fetched