Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.47283477_47283532dupCA2638435215ITGB3c.289_344dup (p.Leu116ThrfsTer47)
c.254_309dup
 gnomAD v4
17g.47283530T>ACA500429607ITGB3c.342T>A (p.Ile114=)
c.307T>A
 gnomAD v4
17g.47283530T>CCA8622916ITGB3c.342T>C (p.Ile114=)
c.307T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283530T>GCA400021199ITGB3c.342T>G (p.Ile114Met)
c.307T>G
 dbSNP
17g.47283530T=CA2262604896ITGB3c.342T= (p.Ile114=)
c.307T=
17g.47283531G>ACA400021206ITGB3c.343G>A (p.Ala115Thr)
c.308G>A
 dbSNP gnomAD v2 gnomAD v4
17g.47283531G>CCA400021209ITGB3c.343G>C (p.Ala115Pro)
c.308G>C
17g.47283531G=CA2262604897ITGB3c.343G= (p.Ala115=)
c.308G=
17g.47283531G>TCA400021210ITGB3c.343G>T (p.Ala115Ser)
c.308G>T
17g.47283532C>ACA400021218ITGB3c.344C>A (p.Ala115Glu)
c.309C>A
17g.47283532C>GCA400021214ITGB3c.344C>G (p.Ala115Gly)
c.309C>G
17g.47283532C>TCA400021215ITGB3c.344C>T (p.Ala115Val)
c.309C>T
 gnomAD v4
17g.47283533A>CCA500429609ITGB3c.345A>C (p.Ala115=)
c.310A>C
17g.47283533A>GCA500429608ITGB3c.345A>G (p.Ala115=)
c.310A>G
17g.47283533A>TCA500429610ITGB3c.345A>T (p.Ala115=)
c.310A>T
17g.47283534C>ACA400021223ITGB3c.346C>A (p.Leu116Ile)
c.311C>A
17g.47283534C=CA2262604898ITGB3c.346C= (p.Leu116=)
c.311C=
17g.47283534C>GCA8622918ITGB3c.346C>G (p.Leu116Val)
c.311C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283534C>TCA8622917ITGB3c.346C>T (p.Leu116Phe)
c.311C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283535T>ACA400021233ITGB3c.347T>A (p.Leu116His)
c.312T>A
17g.47283535T>CCA400021235ITGB3c.347T>C (p.Leu116Pro)
c.312T>C
17g.47283535T>GCA400021239ITGB3c.347T>G (p.Leu116Arg)
c.312T>G
17g.47283536C>ACA8622919ITGB3c.348C>A (p.Leu116=)
c.313C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283536C=CA2262604899ITGB3c.348C= (p.Leu116=)
c.313C=
17g.47283536C>GCA500429611ITGB3c.348C>G (p.Leu116=)
c.313C>G
17g.47283536C>TCA8622920ITGB3c.348C>T (p.Leu116=)
c.313C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.47283537C>ACA500429612ITGB3c.349C>A (p.Arg117=)
c.314C>A
 ClinVar
17g.47283537C=CA2262604900ITGB3c.349C= (p.Arg117=)
c.314C=
17g.47283537C>GCA400021247ITGB3c.349C>G (p.Arg117Gly)
c.314C>G
17g.47283537C>TCA8622921ITGB3c.349C>T (p.Arg117Trp)
c.314C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.47283538G>ACA8622922ITGB3c.350G>A (p.Arg117Gln)
c.315G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.47283538G>CCA400021258ITGB3c.350G>C (p.Arg117Pro)
c.315G>C
17g.47283538G=CA2262604901ITGB3c.350G= (p.Arg117=)
c.315G=
17g.47283538G>TCA400021256ITGB3c.350G>T (p.Arg117Leu)
c.315G>T
17g.47283539G>ACA500429613ITGB3c.351G>A (p.Arg117=)
c.316G>A
17g.47283539G>CCA500429614ITGB3c.351G>C (p.Arg117=)
c.316G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47283539G=CA2262604902ITGB3c.351G= (p.Arg117=)
c.316G=
17g.47283539G>TCA500429615ITGB3c.351G>T (p.Arg117=)
c.316G>T
17g.47283540C>ACA400021259ITGB3c.352C>A (p.Leu118Ile)
c.317C>A
17g.47283540C>GCA400021260ITGB3c.352C>G (p.Leu118Val)
c.317C>G
17g.47283540C>TCA400021262ITGB3c.352C>T (p.Leu118Phe)
c.317C>T
 gnomAD v4
17g.47283541T>ACA291224511ITGB3c.353T>A (p.Leu118His)
c.318T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.47283541T>CCA400021267ITGB3c.353T>C (p.Leu118Pro)
c.318T>C
17g.47283541T>GCA400021270ITGB3c.353T>G (p.Leu118Arg)
c.318T>G
17g.47283541T=CA2262604903ITGB3c.353T= (p.Leu118=)
c.318T=
17g.47283542C>ACA500429618ITGB3c.354C>A (p.Leu118=)
c.319C>A
17g.47283542C=CA2262604904ITGB3c.354C= (p.Leu118=)
c.319C=
17g.47283542C>GCA8622923ITGB3c.354C>G (p.Leu118=)
c.319C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283542C>TCA291224513ITGB3c.354C>T (p.Leu118=)
c.319C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.47283543C>ACA500429619ITGB3c.355C>A (p.Arg119=)
c.320C>A
17g.47283543C=CA2262604905ITGB3c.355C= (p.Arg119=)
c.320C=
17g.47283543C>GCA400021275ITGB3c.355C>G (p.Arg119Gly)
c.320C>G
17g.47283543C>TCA8622924ITGB3c.355C>T (p.Arg119Trp)
c.320C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.47283544G>ACA8622925ITGB3c.356G>A (p.Arg119Gln)
c.321G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283544G>CCA400021284ITGB3c.356G>C (p.Arg119Pro)
c.321G>C
 gnomAD v4
17g.47283544G=CA2262604906ITGB3c.356G= (p.Arg119=)
c.321G=
17g.47283544G>TCA400021289ITGB3c.356G>T (p.Arg119Leu)
c.321G>T
17g.47283545G>ACA500429622ITGB3c.357G>A (p.Arg119=)
c.322G>A
17g.47283545G>CCA500429623ITGB3c.357G>C (p.Arg119=)
c.322G>C
17g.47283545G>TCA500429624ITGB3c.357G>T (p.Arg119=)
c.322G>T
17g.47283546C>ACA400021292ITGB3c.358C>A (p.Pro120Thr)
c.323C>A
17g.47283546C>GCA400021298ITGB3c.358C>G (p.Pro120Ala)
c.323C>G
17g.47283546C>TCA400021295ITGB3c.358C>T (p.Pro120Ser)
c.323C>T
 gnomAD v4
17g.47283547C>ACA400021304ITGB3c.359C>A (p.Pro120Gln)
c.324C>A
17g.47283547C>GCA400021307ITGB3c.359C>G (p.Pro120Arg)
c.324C>G
 gnomAD v4
17g.47283547C>TCA400021310ITGB3c.359C>T (p.Pro120Leu)
c.324C>T
 gnomAD v4
17g.47283548A=CA2262604907ITGB3c.360A= (p.Pro120=)
c.325A=
17g.47283548A>CCA500430189ITGB3c.360A>C (p.Pro120=)
c.325A>C
17g.47283548A>GCA8622926ITGB3c.360A>G (p.Pro120=)
c.325A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283548A>TCA500430190ITGB3c.360A>T (p.Pro120=)
c.325A>T
17g.47283549G>ACA400021316ITGB3c.361G>A (p.Asp121Asn)
c.326G>A
17g.47283549G>CCA400021320ITGB3c.361G>C (p.Asp121His)
c.326G>C
17g.47283549G>TCA400021324ITGB3c.361G>T (p.Asp121Tyr)
c.326G>T
17g.47283550G>ACA400021329ITGB3c.361+1G>A (n.361+1G>A)
c.326+1G>A
 ClinVar dbSNP gnomAD v4
17g.47283550G>CCA400021332ITGB3c.361+1G>C (n.361+1G>C)
c.326+1G>C
17g.47283550G>TCA400021336ITGB3c.361+1G>T (n.361+1G>T)
c.326+1G>T
17g.47283551T>ACA400021345ITGB3c.361+2T>A (n.361+2T>A)
c.326+2T>A
17g.47283551T>CCA400021349ITGB3c.361+2T>C (n.361+2T>C)
c.326+2T>C
17g.47283551T>GCA400021342ITGB3c.361+2T>G (n.361+2T>G)
c.326+2T>G
17g.47283553G>ACA8622927ITGB3c.361+4G>A (n.361+4G>A)
c.326+4G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283553G=CA2262604908ITGB3c.361+4G= (n.361+4G=)
c.326+4G=
17g.47283555G>ACA2262604910ITGB3c.361+6G>A (n.361+6G>A)
c.326+6G>A
 dbSNP
17g.47283555G=CA2262604909ITGB3c.361+6G= (n.361+6G=)
c.326+6G=
17g.47283555G>TCA626378165ITGB3c.361+6G>T (n.361+6G>T)
c.326+6G>T
 dbSNP gnomAD v2 gnomAD v4
17g.47283557T>ACA772535590ITGB3c.361+8T>A (n.361+8T>A)
c.326+8T>A
 dbSNP
17g.47283557T=CA2262604911ITGB3c.361+8T= (n.361+8T=)
c.326+8T=
17g.47283560dupCA2638435217ITGB3c.361+11dup (n.361+11dup)
c.326+11dup
 ClinVar gnomAD v4
17g.47283559G>CCA8622928ITGB3c.361+10G>C (n.361+10G>C)
c.326+10G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283559G=CA2262604912ITGB3c.361+10G= (n.361+10G=)
c.326+10G=
17g.47283561A>CCA2697560132ITGB3c.361+12A>C (n.361+12A>C)
c.326+12A>C
 ClinVar
17g.47283561A>GCA2638435218ITGB3c.361+12A>G (n.361+12A>G)
c.326+12A>G
 gnomAD v4
17g.47283562C>TCA2576302208ITGB3c.361+13C>T (n.361+13C>T)
c.326+13C>T
17g.47283563T>CCA2638435219ITGB3c.361+14T>C (n.361+14T>C)
c.326+14T>C
 gnomAD v4
17g.47283564C=CA2262604914ITGB3c.361+15C= (n.361+15C=)
c.326+15C=
17g.47283564C>GCA626378166ITGB3c.361+15C>G (n.361+15C>G)
c.326+15C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.47283564C>TCA8622930ITGB3c.361+15C>T (n.361+15C>T)
c.326+15C>T
 dbSNP ExAC gnomAD v2
17g.47283564_47283566delinsCTTCA2262604913ITGB3c.361+15_361+17delinsCTT (n.361+15_361+17delinsCTT)
c.326+15_326+17delinsCTT
17g.47283566_47283567delCA8622929ITGB3c.361+17_361+18del (n.361+17_361+18del)
c.326+17_326+18del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283569C>ACA8622933ITGB3c.361+20C>A (n.361+20C>A)
c.326+20C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.47283569C=CA2262604915ITGB3c.361+20C= (n.361+20C=)
c.326+20C=
17g.47283569C>GCA2697560133ITGB3c.361+20C>G (n.361+20C>G)
c.326+20C>G
 ClinVar
17g.47283569C>TCA8622932ITGB3c.361+20C>T (n.361+20C>T)
c.326+20C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283569_47283570delinsCGCA2262604916ITGB3c.361+20_361+21delinsCG (n.361+20_361+21delinsCG)
c.326+20_326+21delinsCG
17g.47283570G>ACA8622934ITGB3c.361+21G>A (n.361+21G>A)
c.326+21G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283570G>CCA2638435220ITGB3c.361+21G>C (n.361+21G>C)
c.326+21G>C
 gnomAD v4
17g.47283570G=CA2262604917ITGB3c.361+21G= (n.361+21G=)
c.326+21G=
17g.47283573delCA8622931ITGB3c.361+24del (n.361+24del)
c.326+24del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283572G>CCA2262604918ITGB3c.361+23G>C (n.361+23G>C)
c.326+23G>C
 dbSNP
17g.47283572G=CA2262604919ITGB3c.361+23G= (n.361+23G=)
c.326+23G=
17g.47283572G>TCA772535600ITGB3c.361+23G>T (n.361+23G>T)
c.326+23G>T
 dbSNP gnomAD v3 gnomAD v4
17g.47283573G>ACA2262604921ITGB3c.361+24G>A (n.361+24G>A)
c.326+24G>A
 dbSNP gnomAD v4
17g.47283573G=CA2262604920ITGB3c.361+24G= (n.361+24G=)
c.326+24G=
17g.47283573G>TCA656371663ITGB3c.361+24G>T (n.361+24G>T)
c.326+24G>T
 COSMIC
17g.47283577_47283578delCA2638435221ITGB3c.361+28_361+29del (n.361+28_361+29del)
c.326+28_326+29del
 gnomAD v4
17g.47283574A>GCA2638435222ITGB3c.361+25A>G (n.361+25A>G)
c.326+25A>G
 gnomAD v4
17g.47283577G>ACA291224520ITGB3c.361+28G>A (n.361+28G>A)
c.326+28G>A
 dbSNP gnomAD v4
17g.47283577G=CA2262604922ITGB3c.361+28G= (n.361+28G=)
c.326+28G=
17g.47283579C>ACA2809686252ITGB3c.361+30C>A (n.361+30C>A)
c.326+30C>A
17g.47283579C>GCA2809686253ITGB3c.361+30C>G (n.361+30C>G)
c.326+30C>G
17g.47283579C>TCA2638435223ITGB3c.361+30C>T (n.361+30C>T)
c.326+30C>T
 gnomAD v4
17g.47283580C>GCA2638435224ITGB3c.361+31C>G (n.361+31C>G)
c.326+31C>G
 gnomAD v4
17g.47283586C>ACA2576302209ITGB3c.361+37C>A (n.361+37C>A)
c.326+37C>A
17g.47283587A>TCA2809686254ITGB3c.361+38A>T (n.361+38A>T)
c.326+38A>T
17g.47283588G=CA2262604923ITGB3c.361+39G= (n.361+39G=)
c.326+39G=
17g.47283588G>TCA8622935ITGB3c.361+39G>T (n.361+39G>T)
c.326+39G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283589G>ACA2733705934ITGB3c.361+40G>A (n.361+40G>A)
c.326+40G>A
 dbSNP
17g.47283589G>TCA2576302210ITGB3c.361+40G>T (n.361+40G>T)
c.326+40G>T
17g.47283591G>ACA656371668ITGB3c.361+42G>A (n.361+42G>A)
c.326+42G>A
 COSMIC
17g.47283593G>ACA2638435226ITGB3c.361+44G>A (n.361+44G>A)
c.326+44G>A
 gnomAD v4
17g.47283593G>CCA2638435227ITGB3c.361+44G>C (n.361+44G>C)
c.326+44G>C
 gnomAD v4
17g.47283593G>TCA2638435225ITGB3c.361+44G>T (n.361+44G>T)
c.326+44G>T
 gnomAD v4
17g.47283594C>ACA2576302211ITGB3c.361+45C>A (n.361+45C>A)
c.326+45C>A
 gnomAD v4
17g.47283595A>TCA2638435228ITGB3c.361+46A>T (n.361+46A>T)
c.326+46A>T
 gnomAD v4
17g.47283596T>GCA2638435229ITGB3c.361+47T>G (n.361+47T>G)
c.326+47T>G
 gnomAD v4
17g.47283598G>CCA2262604925ITGB3c.361+49G>C (n.361+49G>C)
c.326+49G>C
 dbSNP
17g.47283598G=CA2262604924ITGB3c.361+49G= (n.361+49G=)
c.326+49G=
17g.47283598G>TCA2509462168ITGB3c.361+49G>T (n.361+49G>T)
c.326+49G>T
17g.47283600G>CCA2638435230ITGB3c.361+51G>C (n.361+51G>C)
c.326+51G>C
 gnomAD v4
17g.47283601C>ACA2638435231ITGB3c.361+52C>A (n.361+52C>A)
c.326+52C>A
 gnomAD v4
17g.47283601C=CA2262604926ITGB3c.361+52C= (n.361+52C=)
c.326+52C=
17g.47283601C>TCA8622936ITGB3c.361+52C>T (n.361+52C>T)
c.326+52C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.47283602A=CA2262604927ITGB3c.361+53A= (n.361+53A=)
c.326+53A=
17g.47283602A>GCA772535609ITGB3c.361+53A>G (n.361+53A>G)
c.326+53A>G
 dbSNP gnomAD v4
17g.47283602A>TCA2638435232ITGB3c.361+53A>T (n.361+53A>T)
c.326+53A>T
 gnomAD v4
17g.47283603C>GCA2576302212ITGB3c.361+54C>G (n.361+54C>G)
c.326+54C>G
17g.47283604_47283610delinsAAGGTGGCA2262604928ITGB3c.361+55_361+61delinsAAGGTGG (n.361+55_361+61delinsAAGGTGG)
c.326+55_326+61delinsAAGGTGG
17g.47283609_47283614delCA2262604929ITGB3c.361+60_361+65del (n.361+60_361+65del)
c.326+60_326+65del
 dbSNP
17g.47283606G>ACA2638435233ITGB3c.361+57G>A (n.361+57G>A)
c.326+57G>A
 gnomAD v4
17g.47283606G=CA2262604931ITGB3c.361+57G= (n.361+57G=)
c.326+57G=
17g.47283606G>TCA2262604930ITGB3c.361+57G>T (n.361+57G>T)
c.326+57G>T
 dbSNP gnomAD v4
17g.47283610G>ACA291224522ITGB3c.361+61G>A (n.361+61G>A)
c.326+61G>A
 dbSNP gnomAD v3 gnomAD v4
17g.47283610G>CCA2638435234ITGB3c.361+61G>C (n.361+61G>C)
c.326+61G>C
 gnomAD v4
17g.47283610G=CA2262604932ITGB3c.361+61G= (n.361+61G=)
c.326+61G=
17g.47283611A>GCA2638435235ITGB3c.361+62A>G (n.361+62A>G)
c.326+62A>G
 gnomAD v4
17g.47283612G>ACA2262604934ITGB3c.361+63G>A (n.361+63G>A)
c.326+63G>A
 dbSNP
17g.47283612G=CA2262604933ITGB3c.361+63G= (n.361+63G=)
c.326+63G=
17g.47283612G>TCA2262604935ITGB3c.361+63G>T (n.361+63G>T)
c.326+63G>T
 dbSNP
17g.47283613G>ACA2576302213ITGB3c.361+64G>A (n.361+64G>A)
c.326+64G>A
 gnomAD v4
17g.47283614T>CCA2638435236ITGB3c.361+65T>C (n.361+65T>C)
c.326+65T>C
 gnomAD v4
17g.47283615C>ACA2576302214ITGB3c.361+66C>A (n.361+66C>A)
c.326+66C>A
 gnomAD v4
17g.47283616T>GCA2638435237ITGB3c.361+67T>G (n.361+67T>G)
c.326+67T>G
 gnomAD v4
17g.47283617G>ACA772535616ITGB3c.361+68G>A (n.361+68G>A)
c.326+68G>A
 dbSNP gnomAD v3 gnomAD v4
17g.47283617G=CA2262604936ITGB3c.361+68G= (n.361+68G=)
c.326+68G=
17g.47283617dupCA2594684349ITGB3c.361+68dup (n.361+68dup)
c.326+68dup
 dbSNP gnomAD v3 gnomAD v4
17g.47283624A>CCA2809686255ITGB3c.361+75A>C (n.361+75A>C)
c.326+75A>C
17g.47283625A=CA2262604937ITGB3c.361+76A= (n.361+76A=)
c.326+76A=
17g.47283625A>TCA2262604938ITGB3c.361+76A>T (n.361+76A>T)
c.326+76A>T
 dbSNP gnomAD v3 gnomAD v4
17g.47283627T>ACA2576302215ITGB3c.361+78T>A (n.361+78T>A)
c.326+78T>A
17g.47283628C>ACA2638435238ITGB3c.361+79C>A (n.361+79C>A)
c.326+79C>A
 gnomAD v4
17g.47283628C>TCA2638435239ITGB3c.361+79C>T (n.361+79C>T)
c.326+79C>T
 gnomAD v4
17g.47283629T>CCA2262604940ITGB3c.361+80T>C (n.361+80T>C)
c.326+80T>C
 dbSNP gnomAD v4
17g.47283629T=CA2262604939ITGB3c.361+80T= (n.361+80T=)
c.326+80T=
17g.47283630T>ACA2638435240ITGB3c.361+81T>A (n.361+81T>A)
c.326+81T>A
 gnomAD v4
17g.47283630_47283631delinsTGCA2262604941ITGB3c.361+81_361+82delinsTG (n.361+81_361+82delinsTG)
c.326+81_326+82delinsTG

Number of alleles fetched