Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.47283326G>ACA2638435209ITGB3c.166-28G>A (n.166-28G>A)
c.131-28G>A
gnomAD v4
17g.47283326G=CA2262604804ITGB3c.166-28G= (n.166-28G=)
c.131-28G=
17g.47283326G>TCA8622878ITGB3c.166-28G>T (n.166-28G>T)
c.131-28G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283327A=CA2262604805ITGB3c.166-27A= (n.166-27A=)
c.131-27A=
17g.47283327A>CCA2262604806ITGB3c.166-27A>C (n.166-27A>C)
c.131-27A>C
dbSNP
17g.47283327A>TCA2638435210ITGB3c.166-27A>T (n.166-27A>T)
c.131-27A>T
gnomAD v4
17g.47283328C=CA2262604807ITGB3c.166-26C= (n.166-26C=)
c.131-26C=
17g.47283328C>TCA8622879ITGB3c.166-26C>T (n.166-26C>T)
c.131-26C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283330T>ACA2638435211ITGB3c.166-24T>A (n.166-24T>A)
c.131-24T>A
gnomAD v4
17g.47283331C=CA2262604808ITGB3c.166-23C= (n.166-23C=)
c.131-23C=
17g.47283331C>TCA772535253ITGB3c.166-23C>T (n.166-23C>T)
c.131-23C>T
dbSNP gnomAD v3 gnomAD v4
17g.47283333C=CA2262604809ITGB3c.166-21C= (n.166-21C=)
c.131-21C=
17g.47283333C>TCA2262604810ITGB3c.166-21C>T (n.166-21C>T)
c.131-21C>T
dbSNP
17g.47283336T>CCA291224479ITGB3c.166-18T>C (n.166-18T>C)
c.131-18T>C
dbSNP gnomAD v3 gnomAD v4
17g.47283336T>GCA2262604811ITGB3c.166-18T>G (n.166-18T>G)
c.131-18T>G
dbSNP
17g.47283336T=CA2262604812ITGB3c.166-18T= (n.166-18T=)
c.131-18T=
17g.47283338G>ACA8622880ITGB3c.166-16G>A (n.166-16G>A)
c.131-16G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283338G=CA2262604813ITGB3c.166-16G= (n.166-16G=)
c.131-16G=
17g.47283339G>TCA2809686250ITGB3c.166-15G>T (n.166-15G>T)
c.131-15G>T
17g.47283340C>ACA8622881ITGB3c.166-14C>A (n.166-14C>A)
c.131-14C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283340C=CA2262604814ITGB3c.166-14C= (n.166-14C=)
c.131-14C=
17g.47283341T>CCA2739268187ITGB3c.166-13T>C (n.166-13T>C)
c.131-13T>C
ClinVar
17g.47283341T>GCA2552546832ITGB3c.166-13T>G (n.166-13T>G)
c.131-13T>G
ClinVar gnomAD v4
17g.47283342C=CA2262604815ITGB3c.166-12C= (n.166-12C=)
c.131-12C=
17g.47283342C>TCA8622882ITGB3c.166-12C>T (n.166-12C>T)
c.131-12C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283343C=CA2262604816ITGB3c.166-11C= (n.166-11C=)
c.131-11C=
17g.47283343C>TCA626684823ITGB3c.166-11C>T (n.166-11C>T)
c.131-11C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.47283345_47283348delCA2741538250ITGB3c.166-9_166-6del (n.166-9_166-6del)
c.131-9_131-6del
17g.47283345_47283346delCA2638435212ITGB3c.166-9_166-8del (n.166-9_166-8del)
c.131-9_131-8del
gnomAD v4
17g.47283346T>CCA626684824ITGB3c.166-8T>C (n.166-8T>C)
c.131-8T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.47283346T=CA2262604817ITGB3c.166-8T= (n.166-8T=)
c.131-8T=
17g.47283347C>TCA2739268188ITGB3c.166-7C>T (n.166-7C>T)
c.131-7C>T
ClinVar
17g.47283350A=CA2262604818ITGB3c.166-4A= (n.166-4A=)
c.131-4A=
17g.47283350A>TCA291224482ITGB3c.166-4A>T (n.166-4A>T)
c.131-4A>T
dbSNP gnomAD v4
17g.47283351C=CA2262604819ITGB3c.166-3C= (n.166-3C=)
c.131-3C=
17g.47283351C>TCA8622883ITGB3c.166-3C>T (n.166-3C>T)
c.131-3C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283352A=CA2262604820ITGB3c.166-2A= (n.166-2A=)
c.131-2A=
17g.47283352A>CCA400020352ITGB3c.166-2A>C (n.166-2A>C)
c.131-2A>C
17g.47283352A>GCA291224483ITGB3c.166-2A>G (n.166-2A>G)
c.131-2A>G
ClinVar dbSNP
17g.47283352A>TCA400020355ITGB3c.166-2A>T (n.166-2A>T)
c.131-2A>T
17g.47283353G>ACA400020357ITGB3c.166-1G>A (n.166-1G>A)
c.131-1G>A
17g.47283353G>CCA400020360ITGB3c.166-1G>C (n.166-1G>C)
c.131-1G>C
gnomAD v4
17g.47283353G>TCA400020361ITGB3c.166-1G>T (n.166-1G>T)
c.131-1G>T
17g.47283354G>ACA400020367ITGB3c.166G>A (p.Ala56Thr)
c.131G>A
17g.47283354G>CCA400020363ITGB3c.166G>C (p.Ala56Pro)
c.131G>C
dbSNP gnomAD v4
17g.47283354G=CA2262604821ITGB3c.166G= (p.Ala56=)
c.131G=
17g.47283354G>TCA400020365ITGB3c.166G>T (p.Ala56Ser)
c.131G>T
17g.47283355C>ACA8622884ITGB3c.167C>A (p.Ala56Asp)
c.132C>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283355C=CA2262604822ITGB3c.167C= (p.Ala56=)
c.132C=
17g.47283355C>GCA400020369ITGB3c.167C>G (p.Ala56Gly)
c.132C>G
17g.47283355C>TCA400020371ITGB3c.167C>T (p.Ala56Val)
c.132C>T
dbSNP gnomAD v2 gnomAD v4
17g.47283356C>ACA500429492ITGB3c.168C>A (p.Ala56=)
c.133C>A
17g.47283356C=CA2262604823ITGB3c.168C= (p.Ala56=)
c.133C=
17g.47283356C>GCA500429493ITGB3c.168C>G (p.Ala56=)
c.133C>G
17g.47283356C>TCA8622885ITGB3c.168C>T (p.Ala56=)
c.133C>T
dbSNP ExAC
17g.47283357C>ACA400020374ITGB3c.169C>A (p.Leu57Met)
c.134C>A
17g.47283357C=CA2262604824ITGB3c.169C= (p.Leu57=)
c.134C=
17g.47283357C>GCA400020376ITGB3c.169C>G (p.Leu57Val)
c.134C>G
17g.47283357C>TCA8622886ITGB3c.169C>T (p.Leu57=)
c.134C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283358T>ACA400020379ITGB3c.170T>A (p.Leu57Gln)
c.135T>A
17g.47283358T>CCA400020381ITGB3c.170T>C (p.Leu57Pro)
c.135T>C
17g.47283358T>GCA400020383ITGB3c.170T>G (p.Leu57Arg)
c.135T>G
17g.47283359G>ACA8622887ITGB3c.171G>A (p.Leu57=)
c.136G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283359G>CCA500429494ITGB3c.171G>C (p.Leu57=)
c.136G>C
17g.47283359G=CA2262604825ITGB3c.171G= (p.Leu57=)
c.136G=
17g.47283359G>TCA500429495ITGB3c.171G>T (p.Leu57=)
c.136G>T
17g.47283360C>ACA400020390ITGB3c.172C>A (p.Pro58Thr)
c.137C>A
17g.47283360C>GCA400020388ITGB3c.172C>G (p.Pro58Ala)
c.137C>G
17g.47283360C>TCA400020387ITGB3c.172C>T (p.Pro58Ser)
c.137C>T
17g.47283361delCA2580094045ITGB3c.173del (p.Pro58LeufsTer9)
c.138del
ClinVar dbSNP
17g.47283361C>ACA400020393ITGB3c.173C>A (p.Pro58His)
c.138C>A
17g.47283361C>GCA400020395ITGB3c.173C>G (p.Pro58Arg)
c.138C>G
17g.47283361C>TCA400020397ITGB3c.173C>T (p.Pro58Leu)
c.138C>T
gnomAD v4
17g.47283362delCA2809686251ITGB3c.174del (p.Leu59TrpfsTer8)
c.139del
17g.47283362T>ACA500429496ITGB3c.174T>A (p.Pro58=)
c.139T>A
dbSNP gnomAD v2 gnomAD v4
17g.47283362T>CCA500429497ITGB3c.174T>C (p.Pro58=)
c.139T>C
ClinVar
17g.47283362T>GCA500429498ITGB3c.174T>G (p.Pro58=)
c.139T>G
17g.47283362T=CA2262604826ITGB3c.174T= (p.Pro58=)
c.139T=
17g.47283363C>ACA400020399ITGB3c.175C>A (p.Leu59Met)
c.140C>A
17g.47283363C=CA2262604827ITGB3c.175C= (p.Leu59=)
c.140C=
17g.47283363C>GCA400020401ITGB3c.175C>G (p.Leu59Val)
c.140C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.47283363C>TCA500429499ITGB3c.175C>T (p.Leu59=)
c.140C>T
COSMIC COSMIC COSMIC
17g.47283364T>ACA400020404ITGB3c.176T>A (p.Leu59Gln)
c.141T>A
17g.47283364T>CCA123235ITGB3c.176T>C (p.Leu59Pro)
c.141T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283364T>GCA400020405ITGB3c.176T>G (p.Leu59Arg)
c.141T>G
17g.47283364T=CA2262604828ITGB3c.176T= (p.Leu59=)
c.141T=
17g.47283365G>ACA8622888ITGB3c.177G>A (p.Leu59=)
c.142G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283365G>CCA500429501ITGB3c.177G>C (p.Leu59=)
c.142G>C
17g.47283365G=CA2262604829ITGB3c.177G= (p.Leu59=)
c.142G=
17g.47283365G>TCA500429500ITGB3c.177G>T (p.Leu59=)
c.142G>T
17g.47283366G>ACA400020409ITGB3c.178G>A (p.Gly60Ser)
c.143G>A
gnomAD v4
17g.47283366G>CCA400020410ITGB3c.178G>C (p.Gly60Arg)
c.143G>C
17g.47283366G>TCA400020413ITGB3c.178G>T (p.Gly60Cys)
c.143G>T
17g.47283367G>ACA400020416ITGB3c.179G>A (p.Gly60Asp)
c.144G>A
17g.47283367G>CCA400020417ITGB3c.179G>C (p.Gly60Ala)
c.144G>C
17g.47283367G=CA2262604830ITGB3c.179G= (p.Gly60=)
c.144G=
17g.47283367G>TCA400020415ITGB3c.179G>T (p.Gly60Val)
c.144G>T
dbSNP gnomAD v2 gnomAD v4
17g.47283368C>ACA500429503ITGB3c.180C>A (p.Gly60=)
c.145C>A
17g.47283368C=CA2262604831ITGB3c.180C= (p.Gly60=)
c.145C=
17g.47283368C>GCA500429502ITGB3c.180C>G (p.Gly60=)
c.145C>G
17g.47283368C>TCA8622889ITGB3c.180C>T (p.Gly60=)
c.145C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283369T>ACA400020420ITGB3c.181T>A (p.Ser61Thr)
c.146T>A
17g.47283369T>CCA8622890ITGB3c.181T>C (p.Ser61Pro)
c.146T>C
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283369T>GCA400020422ITGB3c.181T>G (p.Ser61Ala)
c.146T>G
17g.47283369T=CA2262604832ITGB3c.181T= (p.Ser61=)
c.146T=
17g.47283370C>ACA400020434ITGB3c.182C>A (p.Ser61Ter)
c.147C>A
17g.47283370C=CA2262604833ITGB3c.182C= (p.Ser61=)
c.147C=
17g.47283370C>GCA8622891ITGB3c.182C>G (p.Ser61Ter)
c.147C>G
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283370C>TCA400020424ITGB3c.182C>T (p.Ser61Leu)
c.147C>T
gnomAD v4
17g.47283371A=CA2262604834ITGB3c.183A= (p.Ser61=)
c.148A=
17g.47283371A>CCA500429505ITGB3c.183A>C (p.Ser61=)
c.148A>C
17g.47283371A>GCA500429504ITGB3c.183A>G (p.Ser61=)
c.148A>G
ClinVar dbSNP gnomAD v4
17g.47283371A>TCA500429506ITGB3c.183A>T (p.Ser61=)
c.148A>T
17g.47283372C>ACA400020437ITGB3c.184C>A (p.Pro62Thr)
c.149C>A
gnomAD v4
17g.47283372C>GCA400020439ITGB3c.184C>G (p.Pro62Ala)
c.149C>G
gnomAD v4
17g.47283372C>TCA400020441ITGB3c.184C>T (p.Pro62Ser)
c.149C>T
gnomAD v4
17g.47283373C>ACA400020443ITGB3c.185C>A (p.Pro62His)
c.150C>A
17g.47283373C>GCA400020445ITGB3c.185C>G (p.Pro62Arg)
c.150C>G
17g.47283373C>TCA400020446ITGB3c.185C>T (p.Pro62Leu)
c.150C>T
17g.47283374T>ACA500429507ITGB3c.186T>A (p.Pro62=)
c.151T>A
17g.47283374T>CCA500429508ITGB3c.186T>C (p.Pro62=)
c.151T>C
17g.47283374T>GCA500429509ITGB3c.186T>G (p.Pro62=)
c.151T>G
17g.47283375C>ACA400020448ITGB3c.187C>A (p.Arg63Ser)
c.152C>A
17g.47283375C=CA2262604835ITGB3c.187C= (p.Arg63=)
c.152C=
17g.47283375C>GCA400020451ITGB3c.187C>G (p.Arg63Gly)
c.152C>G
17g.47283375C>TCA8622892ITGB3c.187C>T (p.Arg63Cys)
c.152C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.47283376G>ACA8622893ITGB3c.188G>A (p.Arg63His)
c.153G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283376G>CCA400020456ITGB3c.188G>C (p.Arg63Pro)
c.153G>C
17g.47283376G=CA2262604836ITGB3c.188G= (p.Arg63=)
c.153G=
17g.47283376G>TCA400020454ITGB3c.188G>T (p.Arg63Leu)
c.153G>T
17g.47283377C>ACA500429510ITGB3c.189C>A (p.Arg63=)
c.154C>A
17g.47283377C>GCA500429512ITGB3c.189C>G (p.Arg63=)
c.154C>G
17g.47283377C>TCA500429511ITGB3c.189C>T (p.Arg63=)
c.154C>T
17g.47283378T>ACA400020458ITGB3c.190T>A (p.Cys64Ser)
c.155T>A
17g.47283378T>CCA400020461ITGB3c.190T>C (p.Cys64Arg)
c.155T>C
17g.47283378T>GCA400020460ITGB3c.190T>G (p.Cys64Gly)
c.155T>G
17g.47283379G>ACA291224490ITGB3c.191G>A (p.Cys64Tyr)
c.156G>A
ClinVar dbSNP
17g.47283379G>CCA400020463ITGB3c.191G>C (p.Cys64Ser)
c.156G>C
COSMIC COSMIC COSMIC
17g.47283379G=CA2262604837ITGB3c.191G= (p.Cys64=)
c.156G=
17g.47283379G>TCA400020465ITGB3c.191G>T (p.Cys64Phe)
c.156G>T
dbSNP
17g.47283380T>ACA400020468ITGB3c.192T>A (p.Cys64Ter)
c.157T>A
17g.47283380T>CCA500429513ITGB3c.192T>C (p.Cys64=)
c.157T>C
17g.47283380T>GCA400020470ITGB3c.192T>G (p.Cys64Trp)
c.157T>G
gnomAD v4
17g.47283381G>ACA400020473ITGB3c.193G>A (p.Asp65Asn)
c.158G>A
17g.47283381G>CCA400020474ITGB3c.193G>C (p.Asp65His)
c.158G>C
17g.47283381G>TCA400020476ITGB3c.193G>T (p.Asp65Tyr)
c.158G>T
17g.47283382A>CCA400020479ITGB3c.194A>C (p.Asp65Ala)
c.159A>C
17g.47283382A>GCA400020480ITGB3c.194A>G (p.Asp65Gly)
c.159A>G
17g.47283382A>TCA400020481ITGB3c.194A>T (p.Asp65Val)
c.159A>T
17g.47283383C>ACA400020484ITGB3c.195C>A (p.Asp65Glu)
c.160C>A
17g.47283383C=CA2262604838ITGB3c.195C= (p.Asp65=)
c.160C=
17g.47283383C>GCA400020486ITGB3c.195C>G (p.Asp65Glu)
c.160C>G
17g.47283383C>TCA8622894ITGB3c.195C>T (p.Asp65=)
c.160C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283384C>ACA400020489ITGB3c.196C>A (p.Leu66Met)
c.161C>A
17g.47283384C>GCA400020490ITGB3c.196C>G (p.Leu66Val)
c.161C>G
17g.47283384C>TCA500429514ITGB3c.196C>T (p.Leu66=)
c.161C>T
17g.47283385T>ACA400020494ITGB3c.197T>A (p.Leu66Gln)
c.162T>A
17g.47283385T>CCA400020495ITGB3c.197T>C (p.Leu66Pro)
c.162T>C
gnomAD v4
17g.47283385T>GCA8622895ITGB3c.197T>G (p.Leu66Arg)
c.162T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283385T=CA2262604839ITGB3c.197T= (p.Leu66=)
c.162T=
17g.47283386G>ACA500429516ITGB3c.198G>A (p.Leu66=)
c.163G>A
17g.47283386G>CCA500429518ITGB3c.198G>C (p.Leu66=)
c.163G>C
17g.47283386G>TCA500429517ITGB3c.198G>T (p.Leu66=)
c.163G>T
17g.47283387A>CCA400020498ITGB3c.199A>C (p.Lys67Gln)
c.164A>C
17g.47283387A>GCA400020499ITGB3c.199A>G (p.Lys67Glu)
c.164A>G
17g.47283387A>TCA400020501ITGB3c.199A>T (p.Lys67Ter)
c.164A>T
17g.47283388A>CCA400020504ITGB3c.200A>C (p.Lys67Thr)
c.165A>C
17g.47283388A>GCA400020506ITGB3c.200A>G (p.Lys67Arg)
c.165A>G
17g.47283388A>TCA400020507ITGB3c.200A>T (p.Lys67Met)
c.165A>T
17g.47283389G>ACA8622896ITGB3c.201G>A (p.Lys67=)
c.166G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283389G>CCA400020510ITGB3c.201G>C (p.Lys67Asn)
c.166G>C
17g.47283389G=CA2262604840ITGB3c.201G= (p.Lys67=)
c.166G=
17g.47283389G>TCA400020511ITGB3c.201G>T (p.Lys67Asn)
c.166G>T
17g.47283390G>ACA400020513ITGB3c.202G>A (p.Glu68Lys)
c.167G>A
17g.47283390G>CCA400020517ITGB3c.202G>C (p.Glu68Gln)
c.167G>C
17g.47283390G>TCA400020515ITGB3c.202G>T (p.Glu68Ter)
c.167G>T
17g.47283391A>CCA400020518ITGB3c.203A>C (p.Glu68Ala)
c.168A>C
17g.47283391A>GCA400020520ITGB3c.203A>G (p.Glu68Gly)
c.168A>G
17g.47283391A>TCA400020522ITGB3c.203A>T (p.Glu68Val)
c.168A>T
17g.47283392G>ACA500429519ITGB3c.204G>A (p.Glu68=)
c.169G>A
17g.47283392G>CCA400020524ITGB3c.204G>C (p.Glu68Asp)
c.169G>C
17g.47283392G=CA2262604841ITGB3c.204G= (p.Glu68=)
c.169G=
17g.47283392G>TCA400020526ITGB3c.204G>T (p.Glu68Asp)
c.169G>T
17g.47283393A=CA2262604842ITGB3c.205A= (p.Asn69=)
c.170A=
17g.47283393A>CCA400020528ITGB3c.205A>C (p.Asn69His)
c.170A>C
17g.47283393A>GCA400020530ITGB3c.205A>G (p.Asn69Asp)
c.170A>G
dbSNP gnomAD v3 gnomAD v4
17g.47283393A>TCA400020531ITGB3c.205A>T (p.Asn69Tyr)
c.170A>T
17g.47283394dupCA8622897ITGB3c.206dup (p.Asn69LysfsTer6)
c.171dup
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283394A>CCA400020533ITGB3c.206A>C (p.Asn69Thr)
c.171A>C
17g.47283394A>GCA400020535ITGB3c.206A>G (p.Asn69Ser)
c.171A>G
17g.47283394A>TCA400020537ITGB3c.206A>T (p.Asn69Ile)
c.171A>T
17g.47283395T>ACA400020538ITGB3c.207T>A (p.Asn69Lys)
c.172T>A
17g.47283395T>CCA500429521ITGB3c.207T>C (p.Asn69=)
c.172T>C
17g.47283395T>GCA400020539ITGB3c.207T>G (p.Asn69Lys)
c.172T>G
17g.47283396C>ACA400020540ITGB3c.208C>A (p.Leu70Met)
c.173C>A
17g.47283396C>GCA400020541ITGB3c.208C>G (p.Leu70Val)
c.173C>G
17g.47283396C>TCA500429522ITGB3c.208C>T (p.Leu70=)
c.173C>T
17g.47283397T>ACA400020542ITGB3c.209T>A (p.Leu70Gln)
c.174T>A
17g.47283397T>CCA400020543ITGB3c.209T>C (p.Leu70Pro)
c.174T>C
17g.47283397T>GCA400020544ITGB3c.209T>G (p.Leu70Arg)
c.174T>G
17g.47283398G>ACA291224493ITGB3c.210G>A (p.Leu70=)
c.175G>A
dbSNP gnomAD v2
17g.47283398G>CCA500429523ITGB3c.210G>C (p.Leu70=)
c.175G>C
17g.47283398G=CA2262604843ITGB3c.210G= (p.Leu70=)
c.175G=
17g.47283398G>TCA500429524ITGB3c.210G>T (p.Leu70=)
c.175G>T
17g.47283399C>ACA400020545ITGB3c.211C>A (p.Leu71Met)
c.176C>A
17g.47283399C=CA2262604844ITGB3c.211C= (p.Leu71=)
c.176C=
17g.47283399C>GCA400020546ITGB3c.211C>G (p.Leu71Val)
c.176C>G
dbSNP gnomAD v2 gnomAD v4
17g.47283399C>TCA500429525ITGB3c.211C>T (p.Leu71=)
c.176C>T
17g.47283400T>ACA400020547ITGB3c.212T>A (p.Leu71Gln)
c.177T>A
17g.47283400T>CCA400020548ITGB3c.212T>C (p.Leu71Pro)
c.177T>C
17g.47283400T>GCA400020549ITGB3c.212T>G (p.Leu71Arg)
c.177T>G
17g.47283401G>ACA500429529ITGB3c.213G>A (p.Leu71=)
c.178G>A
17g.47283401G>CCA500429526ITGB3c.213G>C (p.Leu71=)
c.178G>C
17g.47283401G>TCA500429528ITGB3c.213G>T (p.Leu71=)
c.178G>T
17g.47283402A>CCA400020551ITGB3c.214A>C (p.Lys72Gln)
c.179A>C
17g.47283402A>GCA400020552ITGB3c.214A>G (p.Lys72Glu)
c.179A>G
17g.47283402A>TCA400020550ITGB3c.214A>T (p.Lys72Ter)
c.179A>T
17g.47283403A>CCA400020555ITGB3c.215A>C (p.Lys72Thr)
c.180A>C
17g.47283403A>GCA400020553ITGB3c.215A>G (p.Lys72Arg)
c.180A>G
17g.47283403A>TCA400020554ITGB3c.215A>T (p.Lys72Met)
c.180A>T
17g.47283404G>ACA500429530ITGB3c.216G>A (p.Lys72=)
c.181G>A
17g.47283404G>CCA400020556ITGB3c.216G>C (p.Lys72Asn)
c.181G>C
17g.47283404G>TCA400020557ITGB3c.216G>T (p.Lys72Asn)
c.181G>T
17g.47283405G>ACA8622898ITGB3c.217G>A (p.Asp73Asn)
c.182G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283405G>CCA400020558ITGB3c.217G>C (p.Asp73His)
c.182G>C
17g.47283405G=CA2262604845ITGB3c.217G= (p.Asp73=)
c.182G=
17g.47283405G>TCA400020559ITGB3c.217G>T (p.Asp73Tyr)
c.182G>T
17g.47283406A=CA2262604846ITGB3c.218A= (p.Asp73=)
c.183A=
17g.47283406A>CCA400020560ITGB3c.218A>C (p.Asp73Ala)
c.183A>C
17g.47283406A>GCA400020561ITGB3c.218A>G (p.Asp73Gly)
c.183A>G
17g.47283406A>TCA400020562ITGB3c.218A>T (p.Asp73Val)
c.183A>T
dbSNP
17g.47283407T>ACA400020563ITGB3c.219T>A (p.Asp73Glu)
c.184T>A
17g.47283407T>CCA500429531ITGB3c.219T>C (p.Asp73=)
c.184T>C
gnomAD v4
17g.47283407T>GCA400020564ITGB3c.219T>G (p.Asp73Glu)
c.184T>G
17g.47283407dupCA2638435213ITGB3c.219dup (p.Asn74Ter)
c.184dup
gnomAD v4
17g.47283408A=CA2262604847ITGB3c.220A= (p.Asn74=)
c.185A=
17g.47283408A>CCA400020567ITGB3c.220A>C (p.Asn74His)
c.185A>C
17g.47283408A>GCA400020565ITGB3c.220A>G (p.Asn74Asp)
c.185A>G
dbSNP gnomAD v3 gnomAD v4
17g.47283408A>TCA400020566ITGB3c.220A>T (p.Asn74Tyr)
c.185A>T
17g.47283409A>CCA400020568ITGB3c.221A>C (p.Asn74Thr)
c.186A>C
17g.47283409A>GCA400020569ITGB3c.221A>G (p.Asn74Ser)
c.186A>G
17g.47283409A>TCA400020570ITGB3c.221A>T (p.Asn74Ile)
c.186A>T
17g.47283410C>ACA400020571ITGB3c.222C>A (p.Asn74Lys)
c.187C>A
17g.47283410C=CA2262604849ITGB3c.222C= (p.Asn74=)
c.187C=
17g.47283410C>GCA400020572ITGB3c.222C>G (p.Asn74Lys)
c.187C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47283410C>TCA500429532ITGB3c.222C>T (p.Asn74=)
c.187C>T
17g.47283410_47283412delinsCTGCA2262604848ITGB3c.222_224delinsCTG (p.Asn74=)
c.187_189delinsCTG
17g.47283411_47283415delCA645597062ITGB3c.223_227del (p.Cys75ProfsTer10)
c.188_192del
COSMIC COSMIC COSMIC
17g.47283411T>ACA400020573ITGB3c.223T>A (p.Cys75Ser)
c.188T>A
17g.47283411T>CCA400020574ITGB3c.223T>C (p.Cys75Arg)
c.188T>C
gnomAD v4
17g.47283411T>GCA400020575ITGB3c.223T>G (p.Cys75Gly)
c.188T>G
17g.47283411_47283412delinsTGCA2262604850ITGB3c.223_224delinsTG (p.Cys75=)
c.188_189delinsTG
17g.47283413_47283414delCA626684825ITGB3c.225_226del (p.Ala76ProfsTer10)
c.190_191del
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.47283412delCA8622899ITGB3c.224del (p.Cys75LeufsTer10)
c.189del
ClinVar dbSNP ExAC gnomAD v2
17g.47283412G>ACA400020576ITGB3c.224G>A (p.Cys75Tyr)
c.189G>A
17g.47283412G>CCA400020577ITGB3c.224G>C (p.Cys75Ser)
c.189G>C
17g.47283412G>TCA400020578ITGB3c.224G>T (p.Cys75Phe)
c.189G>T
17g.47283413T>ACA400020580ITGB3c.225T>A (p.Cys75Ter)
c.190T>A
17g.47283413T>CCA500429533ITGB3c.225T>C (p.Cys75=)
c.190T>C
dbSNP
17g.47283413T>GCA400020579ITGB3c.225T>G (p.Cys75Trp)
c.190T>G
17g.47283413T=CA2262604851ITGB3c.225T= (p.Cys75=)
c.190T=
17g.47283414G>ACA400020581ITGB3c.226G>A (p.Ala76Thr)
c.191G>A
17g.47283414G>CCA400020582ITGB3c.226G>C (p.Ala76Pro)
c.191G>C
17g.47283414G>TCA400020583ITGB3c.226G>T (p.Ala76Ser)
c.191G>T
17g.47283415C>ACA400020584ITGB3c.227C>A (p.Ala76Asp)
c.192C>A
17g.47283415C=CA2262604852ITGB3c.227C= (p.Ala76=)
c.192C=
17g.47283415C>GCA400020585ITGB3c.227C>G (p.Ala76Gly)
c.192C>G
17g.47283415C>TCA400020586ITGB3c.227C>T (p.Ala76Val)
c.192C>T
dbSNP gnomAD v2
17g.47283416C>ACA500429534ITGB3c.228C>A (p.Ala76=)
c.193C>A
17g.47283416C>GCA500429536ITGB3c.228C>G (p.Ala76=)
c.193C>G
17g.47283416C>TCA500429535ITGB3c.228C>T (p.Ala76=)
c.193C>T
17g.47283417C>ACA400020589ITGB3c.229C>A (p.Pro77Thr)
c.194C>A
17g.47283417C>GCA400020588ITGB3c.229C>G (p.Pro77Ala)
c.194C>G
17g.47283417C>TCA400020587ITGB3c.229C>T (p.Pro77Ser)
c.194C>T
17g.47283418C>ACA400020590ITGB3c.230C>A (p.Pro77Gln)
c.195C>A
17g.47283418C=CA2262604853ITGB3c.230C= (p.Pro77=)
c.195C=
17g.47283418C>GCA8622900ITGB3c.230C>G (p.Pro77Arg)
c.195C>G
dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283418C>TCA400020591ITGB3c.230C>T (p.Pro77Leu)
c.195C>T
dbSNP gnomAD v2 gnomAD v4
17g.47283419A=CA2262604854ITGB3c.231A= (p.Pro77=)
c.196A=
17g.47283419A>CCA500429539ITGB3c.231A>C (p.Pro77=)
c.196A>C
17g.47283419A>GCA500429537ITGB3c.231A>G (p.Pro77=)
c.196A>G
dbSNP gnomAD v3 gnomAD v4
17g.47283419A>TCA500429538ITGB3c.231A>T (p.Pro77=)
c.196A>T
gnomAD v4
17g.47283420G>ACA400020592ITGB3c.232G>A (p.Glu78Lys)
c.197G>A
17g.47283420G>CCA400020593ITGB3c.232G>C (p.Glu78Gln)
c.197G>C
17g.47283420G>TCA400020594ITGB3c.232G>T (p.Glu78Ter)
c.197G>T
17g.47283421A>CCA400020595ITGB3c.233A>C (p.Glu78Ala)
c.198A>C
17g.47283421A>GCA400020597ITGB3c.233A>G (p.Glu78Gly)
c.198A>G
17g.47283421A>TCA400020596ITGB3c.233A>T (p.Glu78Val)
c.198A>T
17g.47283422A>CCA400020598ITGB3c.234A>C (p.Glu78Asp)
c.199A>C
17g.47283422A>GCA500429541ITGB3c.234A>G (p.Glu78=)
c.199A>G
17g.47283422A>TCA400020599ITGB3c.234A>T (p.Glu78Asp)
c.199A>T
17g.47283423T>ACA400020600ITGB3c.235T>A (p.Ser79Thr)
c.200T>A
17g.47283423T>CCA400020601ITGB3c.235T>C (p.Ser79Pro)
c.200T>C
17g.47283423T>GCA291224495ITGB3c.235T>G (p.Ser79Ala)
c.200T>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47283423T=CA2262604855ITGB3c.235T= (p.Ser79=)
c.200T=
17g.47283424C>ACA400020604ITGB3c.236C>A (p.Ser79Tyr)
c.201C>A
17g.47283424C>GCA400020605ITGB3c.236C>G (p.Ser79Cys)
c.201C>G
gnomAD v4
17g.47283424C>TCA400020606ITGB3c.236C>T (p.Ser79Phe)
c.201C>T
COSMIC COSMIC COSMIC
17g.47283425C>ACA500429544ITGB3c.237C>A (p.Ser79=)
c.202C>A
17g.47283425C>GCA500429542ITGB3c.237C>G (p.Ser79=)
c.202C>G
17g.47283425C>TCA500429543ITGB3c.237C>T (p.Ser79=)
c.202C>T
17g.47283426A=CA2262604856ITGB3c.238A= (p.Ile80=)
c.203A=
17g.47283426A>CCA400020608ITGB3c.238A>C (p.Ile80Leu)
c.203A>C
17g.47283426A>GCA400020610ITGB3c.238A>G (p.Ile80Val)
c.203A>G
dbSNP gnomAD v2 gnomAD v4
17g.47283426A>TCA400020612ITGB3c.238A>T (p.Ile80Phe)
c.203A>T

Number of alleles fetched