Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.47286395T>ACA400023651ITGB3c.750T>A (p.Asp250Glu)
c.715T>A
 dbSNP
17g.47286395T>CCA500432035ITGB3c.750T>C (p.Asp250=)
c.715T>C
 gnomAD v4
17g.47286395T>GCA400023652ITGB3c.750T>G (p.Asp250Glu)
c.715T>G
 gnomAD v4
17g.47286395T=CA2262606022ITGB3c.750T= (p.Asp250=)
c.715T=
17g.47286395_47286397dupCA2576302256ITGB3c.750_752dup (p.Ala251_Ile252insAla)
c.715_717dup
17g.47286396G>ACA400023653ITGB3c.751G>A (p.Ala251Thr)
c.716G>A
17g.47286396G>CCA400023654ITGB3c.751G>C (p.Ala251Pro)
c.716G>C
17g.47286396G=CA2262606023ITGB3c.751G= (p.Ala251=)
c.716G=
17g.47286396G>TCA400023655ITGB3c.751G>T (p.Ala251Ser)
c.716G>T
 dbSNP gnomAD v2
17g.47286396_47286397insTAGCA626684843ITGB3c.751_752insTAG (p.Asp250_Ala251insVal)
c.716_717insTAG
 dbSNP gnomAD v2 gnomAD v4
17g.47286397C>ACA400023656ITGB3c.752C>A (p.Ala251Asp)
c.717C>A
17g.47286397C>GCA400023657ITGB3c.752C>G (p.Ala251Gly)
c.717C>G
17g.47286397C>TCA400023658ITGB3c.752C>T (p.Ala251Val)
c.717C>T
17g.47286398C>ACA500432038ITGB3c.753C>A (p.Ala251=)
c.718C>A
17g.47286398C>GCA500432036ITGB3c.753C>G (p.Ala251=)
c.718C>G
17g.47286398C>TCA500432037ITGB3c.753C>T (p.Ala251=)
c.718C>T
17g.47286399A=CA2262606024ITGB3c.754A= (p.Ile252=)
c.719A=
17g.47286399A>CCA400023659ITGB3c.754A>C (p.Ile252Leu)
c.719A>C
17g.47286399A>GCA8623033ITGB3c.754A>G (p.Ile252Val)
c.719A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47286399A>TCA400023660ITGB3c.754A>T (p.Ile252Phe)
c.719A>T
17g.47286400T>ACA400023661ITGB3c.755T>A (p.Ile252Asn)
c.720T>A
 gnomAD v4
17g.47286400T>CCA400023662ITGB3c.755T>C (p.Ile252Thr)
c.720T>C
17g.47286400T>GCA400023663ITGB3c.755T>G (p.Ile252Ser)
c.720T>G
17g.47286401delCA923726221ITGB3c.756del (p.Met253CysfsTer?)
c.721del
 ClinVar dbSNP
17g.47286401C>ACA500432039ITGB3c.756C>A (p.Ile252=)
c.721C>A
17g.47286401C=CA2262606025ITGB3c.756C= (p.Ile252=)
c.721C=
17g.47286401C>GCA400023664ITGB3c.756C>G (p.Ile252Met)
c.721C>G
17g.47286401C>TCA500432040ITGB3c.756C>T (p.Ile252=)
c.721C>T
 dbSNP
17g.47286402A=CA2262606026ITGB3c.757A= (p.Met253=)
c.722A=
17g.47286402A>CCA400023665ITGB3c.757A>C (p.Met253Leu)
c.722A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47286402A>GCA400023666ITGB3c.757A>G (p.Met253Val)
c.722A>G
 gnomAD v4
17g.47286402A>TCA400023667ITGB3c.757A>T (p.Met253Leu)
c.722A>T
 dbSNP gnomAD v2 gnomAD v4
17g.47286403T>ACA400023668ITGB3c.758T>A (p.Met253Lys)
c.723T>A
17g.47286403T>CCA400023669ITGB3c.758T>C (p.Met253Thr)
c.723T>C
 gnomAD v4
17g.47286403T>GCA400023670ITGB3c.758T>G (p.Met253Arg)
c.723T>G
17g.47286404G>ACA400023671ITGB3c.759G>A (p.Met253Ile)
c.724G>A
17g.47286404G>CCA400023672ITGB3c.759G>C (p.Met253Ile)
c.724G>C
17g.47286404G>TCA400023673ITGB3c.759G>T (p.Met253Ile)
c.724G>T
17g.47286405C>ACA400023674ITGB3c.760C>A (p.Gln254Lys)
c.725C>A
 ClinVar dbSNP
17g.47286405C=CA2262606027ITGB3c.760C= (p.Gln254=)
c.725C=
17g.47286405C>GCA400023675ITGB3c.760C>G (p.Gln254Glu)
c.725C>G
 gnomAD v4
17g.47286405C>TCA400023676ITGB3c.760C>T (p.Gln254Ter)
c.725C>T
17g.47286406A=CA2262606028ITGB3c.761A= (p.Gln254=)
c.726A=
17g.47286406A>CCA400023679ITGB3c.761A>C (p.Gln254Pro)
c.726A>C
17g.47286406A>GCA400023678ITGB3c.761A>G (p.Gln254Arg)
c.726A>G
 ClinVar dbSNP
17g.47286406A>TCA400023677ITGB3c.761A>T (p.Gln254Leu)
c.726A>T
17g.47286407G>ACA500432041ITGB3c.762G>A (p.Gln254=)
c.727G>A
 ClinVar
17g.47286407G>CCA400023680ITGB3c.762G>C (p.Gln254His)
c.727G>C
17g.47286407G>TCA400023681ITGB3c.762G>T (p.Gln254His)
c.727G>T
17g.47286408G>ACA400023682ITGB3c.763G>A (p.Ala255Thr)
c.728G>A
17g.47286408G>CCA400023684ITGB3c.763G>C (p.Ala255Pro)
c.728G>C
17g.47286408G>TCA400023683ITGB3c.763G>T (p.Ala255Ser)
c.728G>T
17g.47286409C>ACA400023685ITGB3c.764C>A (p.Ala255Asp)
c.729C>A
 COSMIC COSMIC COSMIC
17g.47286409C>GCA400023687ITGB3c.764C>G (p.Ala255Gly)
c.729C>G
17g.47286409C>TCA400023686ITGB3c.764C>T (p.Ala255Val)
c.729C>T
 gnomAD v4
17g.47286410T>ACA500432043ITGB3c.765T>A (p.Ala255=)
c.730T>A
17g.47286410T>CCA500432042ITGB3c.765T>C (p.Ala255=)
c.730T>C
17g.47286410T>GCA500432044ITGB3c.765T>G (p.Ala255=)
c.730T>G
17g.47286411A=CA2262606029ITGB3c.766A= (p.Thr256=)
c.731A=
17g.47286411A>CCA400023688ITGB3c.766A>C (p.Thr256Pro)
c.731A>C
17g.47286411A>GCA8623034ITGB3c.766A>G (p.Thr256Ala)
c.731A>G
 dbSNP ExAC gnomAD v2
17g.47286411A>TCA400023689ITGB3c.766A>T (p.Thr256Ser)
c.731A>T
17g.47286412C>ACA400023690ITGB3c.767C>A (p.Thr256Lys)
c.732C>A
17g.47286412C>GCA400023691ITGB3c.767C>G (p.Thr256Arg)
c.732C>G
17g.47286412C>TCA400023692ITGB3c.767C>T (p.Thr256Ile)
c.732C>T
17g.47286413A=CA2262606030ITGB3c.768A= (p.Thr256=)
c.733A=
17g.47286413A>CCA500432045ITGB3c.768A>C (p.Thr256=)
c.733A>C
17g.47286413A>GCA500432047ITGB3c.768A>G (p.Thr256=)
c.733A>G
 dbSNP gnomAD v2 gnomAD v4
17g.47286413A>TCA500432046ITGB3c.768A>T (p.Thr256=)
c.733A>T
17g.47286414G>ACA8623035ITGB3c.769G>A (p.Val257Ile)
c.734G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.47286414G>CCA400023693ITGB3c.769G>C (p.Val257Leu)
c.734G>C
17g.47286414G=CA2262606031ITGB3c.769G= (p.Val257=)
c.734G=
17g.47286414G>TCA400023694ITGB3c.769G>T (p.Val257Phe)
c.734G>T
17g.47286415T>ACA400023695ITGB3c.770T>A (p.Val257Asp)
c.735T>A
17g.47286415T>CCA400023696ITGB3c.770T>C (p.Val257Ala)
c.735T>C
17g.47286415T>GCA400023697ITGB3c.770T>G (p.Val257Gly)
c.735T>G
17g.47286416C>ACA500432049ITGB3c.771C>A (p.Val257=)
c.736C>A
 gnomAD v4 COSMIC COSMIC COSMIC
17g.47286416C>GCA500432048ITGB3c.771C>G (p.Val257=)
c.736C>G
17g.47286416C>TCA500432050ITGB3c.771C>T (p.Val257=)
c.736C>T
 gnomAD v4 COSMIC
17g.47286416_47286418delinsCTGCA2262606032ITGB3c.771_773delinsCTG (p.Val257=)
c.736_738delinsCTG
17g.47286417T>ACA400023700ITGB3c.772T>A (p.Cys258Ser)
c.737T>A
17g.47286417T>CCA400023698ITGB3c.772T>C (p.Cys258Arg)
c.737T>C
17g.47286417T>GCA400023699ITGB3c.772T>G (p.Cys258Gly)
c.737T>G
17g.47286419_47286420delCA915940285ITGB3c.774_775del (p.Cys258Ter)
c.739_740del
 ClinVar dbSNP
17g.47286418G>ACA400023701ITGB3c.773G>A (p.Cys258Tyr)
c.738G>A
 gnomAD v4
17g.47286418G>CCA400023702ITGB3c.773G>C (p.Cys258Ser)
c.738G>C
 ClinVar
17g.47286418G>TCA400023703ITGB3c.773G>T (p.Cys258Phe)
c.738G>T
17g.47286419T>ACA400023704ITGB3c.774T>A (p.Cys258Ter)
c.739T>A
 ClinVar dbSNP
17g.47286419T>CCA500432051ITGB3c.774T>C (p.Cys258=)
c.739T>C
17g.47286419T>GCA400023705ITGB3c.774T>G (p.Cys258Trp)
c.739T>G
17g.47286420G>ACA400023706ITGB3c.775G>A (p.Asp259Asn)
c.740G>A
17g.47286420G>CCA400023707ITGB3c.775G>C (p.Asp259His)
c.740G>C
17g.47286420G>TCA400023708ITGB3c.775G>T (p.Asp259Tyr)
c.740G>T
17g.47286421A=CA2262606033ITGB3c.776A= (p.Asp259=)
c.741A=
17g.47286421A>CCA400023709ITGB3c.776A>C (p.Asp259Ala)
c.741A>C
17g.47286421A>GCA400023710ITGB3c.776A>G (p.Asp259Gly)
c.741A>G
 dbSNP gnomAD v3 gnomAD v4
17g.47286421A>TCA400023711ITGB3c.776A>T (p.Asp259Val)
c.741A>T
 dbSNP gnomAD v3 gnomAD v4
17g.47286422T>ACA400023712ITGB3c.777T>A (p.Asp259Glu)
c.742T>A
17g.47286422T>CCA500432052ITGB3c.777T>C (p.Asp259=)
c.742T>C
 dbSNP
17g.47286422T>GCA400023713ITGB3c.777T>G (p.Asp259Glu)
c.742T>G
17g.47286422T=CA2262606034ITGB3c.777T= (p.Asp259=)
c.742T=
17g.47286423G>ACA8623036ITGB3c.777+1G>A (n.777+1G>A)
c.742+1G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47286423G>CCA400023714ITGB3c.777+1G>C (n.777+1G>C)
c.742+1G>C
17g.47286423G=CA2262606035ITGB3c.777+1G= (n.777+1G=)
c.742+1G=
17g.47286423G>TCA400023715ITGB3c.777+1G>T (n.777+1G>T)
c.742+1G>T
17g.47286424T>ACA400023716ITGB3c.777+2T>A (n.777+2T>A)
c.742+2T>A
17g.47286424T>CCA400023717ITGB3c.777+2T>C (n.777+2T>C)
c.742+2T>C
17g.47286424T>GCA400023718ITGB3c.777+2T>G (n.777+2T>G)
c.742+2T>G
 ClinVar gnomAD v4
17g.47286425G>CCA291224901ITGB3c.777+3G>C (n.777+3G>C)
c.742+3G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47286425G=CA2262606036ITGB3c.777+3G= (n.777+3G=)
c.742+3G=
17g.47286427G>ACA2638435538ITGB3c.777+5G>A (n.777+5G>A)
c.742+5G>A
 gnomAD v4
17g.47286429T>CCA984234764ITGB3c.777+7T>C (n.777+7T>C)
c.742+7T>C
 dbSNP gnomAD v3 gnomAD v4
17g.47286429T=CA2262606037ITGB3c.777+7T= (n.777+7T=)
c.742+7T=
17g.47286434G>ACA2638435539ITGB3c.777+12G>A (n.777+12G>A)
c.742+12G>A
 gnomAD v4
17g.47286434G=CA2262606038ITGB3c.777+12G= (n.777+12G=)
c.742+12G=
17g.47286434G>TCA626684844ITGB3c.777+12G>T (n.777+12G>T)
c.742+12G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47286437C>TCA2638435540ITGB3c.777+15C>T (n.777+15C>T)
c.742+15C>T
 gnomAD v4
17g.47286440G>ACA2638435541ITGB3c.777+18G>A (n.777+18G>A)
c.742+18G>A
 gnomAD v4
17g.47286440G>CCA2739268195ITGB3c.777+18G>C (n.777+18G>C)
c.742+18G>C
 ClinVar
17g.47286440_47286451delinsGGAGTGCCAGGTCA2262606039ITGB3c.777+18_777+29delinsGGAGTGCCAGGT (n.777+18_777+29delinsGGAGTGCCAGGT)
c.742+18_742+29delinsGGAGTGCCAGGT
17g.47286442_47286452delCA626684845ITGB3c.777+20_777+30del (n.777+20_777+30del)
c.742+20_742+30del
 dbSNP gnomAD v2 gnomAD v4
17g.47286442A=CA2262606040ITGB3c.777+20A= (n.777+20A=)
c.742+20A=
17g.47286442A>GCA626684846ITGB3c.777+20A>G (n.777+20A>G)
c.742+20A>G
 dbSNP gnomAD v2 gnomAD v4
17g.47286443G=CA2262606041ITGB3c.777+21G= (n.777+21G=)
c.742+21G=
17g.47286443G>TCA8623037ITGB3c.777+21G>T (n.777+21G>T)
c.742+21G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47286444T>CCA8623038ITGB3c.777+22T>C (n.777+22T>C)
c.742+22T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47286444T>GCA291224903ITGB3c.777+22T>G (n.777+22T>G)
c.742+22T>G
 dbSNP
17g.47286444T=CA2262606042ITGB3c.777+22T= (n.777+22T=)
c.742+22T=
17g.47286445G>CCA8623039ITGB3c.777+23G>C (n.777+23G>C)
c.742+23G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47286445G=CA2262606043ITGB3c.777+23G= (n.777+23G=)
c.742+23G=
17g.47286445G>TCA2638435542ITGB3c.777+23G>T (n.777+23G>T)
c.742+23G>T
 gnomAD v4
17g.47286446C=CA2262606044ITGB3c.777+24C= (n.777+24C=)
c.742+24C=
17g.47286446C>TCA8623040ITGB3c.777+24C>T (n.777+24C>T)
c.742+24C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47286447C=CA2262606045ITGB3c.777+25C= (n.777+25C=)
c.742+25C=
17g.47286447C>TCA8623041ITGB3c.777+25C>T (n.777+25C>T)
c.742+25C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47286449G>ACA8623042ITGB3c.777+27G>A (n.777+27G>A)
c.742+27G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47286449G=CA2262606046ITGB3c.777+27G= (n.777+27G=)
c.742+27G=
17g.47286450G>ACA626684847ITGB3c.777+28G>A (n.777+28G>A)
c.742+28G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47286450G=CA2262606047ITGB3c.777+28G= (n.777+28G=)
c.742+28G=
17g.47286452G>ACA2638435543ITGB3c.777+30G>A (n.777+30G>A)
c.742+30G>A
 gnomAD v4
17g.47286453T>GCA8623043ITGB3c.777+31T>G (n.777+31T>G)
c.742+31T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47286453T=CA2262606048ITGB3c.777+31T= (n.777+31T=)
c.742+31T=
17g.47286454G>ACA8623045ITGB3c.777+32G>A (n.777+32G>A)
c.742+32G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47286454G=CA2262606049ITGB3c.777+32G= (n.777+32G=)
c.742+32G=
17g.47286454G>TCA8623044ITGB3c.777+32G>T (n.777+32G>T)
c.742+32G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47286456C>TCA2638435544ITGB3c.777+34C>T (n.777+34C>T)
c.742+34C>T
 gnomAD v4
17g.47286459G>CCA8623046ITGB3c.777+37G>C (n.777+37G>C)
c.742+37G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47286459G=CA2262606050ITGB3c.777+37G= (n.777+37G=)
c.742+37G=
17g.47286460C=CA2262606051ITGB3c.777+38C= (n.777+38C=)
c.742+38C=
17g.47286460C>GCA2262606052ITGB3c.777+38C>G (n.777+38C>G)
c.742+38C>G
 dbSNP
17g.47286461A=CA2262606053ITGB3c.777+39A= (n.777+39A=)
c.742+39A=
17g.47286461A>GCA2262606054ITGB3c.777+39A>G (n.777+39A>G)
c.742+39A>G
 dbSNP gnomAD v4
17g.47286467C>ACA2638435545ITGB3c.777+45C>A (n.777+45C>A)
c.742+45C>A
 gnomAD v4
17g.47286467C=CA2262606055ITGB3c.777+45C= (n.777+45C=)
c.742+45C=
17g.47286467C>GCA291224907ITGB3c.777+45C>G (n.777+45C>G)
c.742+45C>G
 dbSNP
17g.47286467_47286468delinsCACA2262606056ITGB3c.777+45_777+46delinsCA (n.777+45_777+46delinsCA)
c.742+45_742+46delinsCA
17g.47286468A=CA2262606057ITGB3c.777+46A= (n.777+46A=)
c.742+46A=
17g.47286468A>CCA626684848ITGB3c.777+46A>C (n.777+46A>C)
c.742+46A>C
 dbSNP gnomAD v2 gnomAD v4
17g.47286471delCA984234772ITGB3c.777+49del (n.777+49del)
c.742+49del
 dbSNP gnomAD v3 gnomAD v4
17g.47286472T>CCA2638435546ITGB3c.777+50T>C (n.777+50T>C)
c.742+50T>C
 gnomAD v4
17g.47286473G>ACA8623047ITGB3c.777+51G>A (n.777+51G>A)
c.742+51G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47286473G=CA2262606058ITGB3c.777+51G= (n.777+51G=)
c.742+51G=
17g.47286474G>ACA2576302269ITGB3c.777+52G>A (n.777+52G>A)
c.742+52G>A
 gnomAD v4
17g.47286476A=CA2262606059ITGB3c.777+54A= (n.777+54A=)
c.742+54A=
17g.47286476A>GCA772537295ITGB3c.777+54A>G (n.777+54A>G)
c.742+54A>G
 dbSNP gnomAD v3 gnomAD v4
17g.47286480G>ACA626684849ITGB3c.777+58G>A (n.777+58G>A)
c.742+58G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47286480G=CA2262606060ITGB3c.777+58G= (n.777+58G=)
c.742+58G=
17g.47286483G>ACA291224909ITGB3c.777+61G>A (n.777+61G>A)
c.742+61G>A
 dbSNP
17g.47286483G=CA2262606062ITGB3c.777+61G= (n.777+61G=)
c.742+61G=
17g.47286483G>TCA2262606061ITGB3c.777+61G>T (n.777+61G>T)
c.742+61G>T
 dbSNP
17g.47286484T>CCA2576302270ITGB3c.777+62T>C (n.777+62T>C)
c.742+62T>C
 gnomAD v4
17g.47286485G>ACA2638435547ITGB3c.777+63G>A (n.777+63G>A)
c.742+63G>A
 gnomAD v4
17g.47286487C>ACA2638435548ITGB3c.777+65C>A (n.777+65C>A)
c.742+65C>A
 gnomAD v4
17g.47286487C=CA2262606064ITGB3c.777+65C= (n.777+65C=)
c.742+65C=
17g.47286487C>GCA2262606063ITGB3c.777+65C>G (n.777+65C>G)
c.742+65C>G
 dbSNP gnomAD v4
17g.47286488T>CCA2576302272ITGB3c.777+66T>C (n.777+66T>C)
c.742+66T>C
 gnomAD v4
17g.47286491A>GCA2638435549ITGB3c.777+69A>G (n.777+69A>G)
c.742+69A>G
 gnomAD v4
17g.47286492C>ACA2262606066ITGB3c.777+70C>A (n.777+70C>A)
c.742+70C>A
 dbSNP gnomAD v4
17g.47286492C=CA2262606065ITGB3c.777+70C= (n.777+70C=)
c.742+70C=
17g.47286495T>CCA2262606068ITGB3c.777+73T>C (n.777+73T>C)
c.742+73T>C
 dbSNP
17g.47286495T=CA2262606067ITGB3c.777+73T= (n.777+73T=)
c.742+73T=

Number of alleles fetched