Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.120442520T>CCA2694597869LAMP2c.928+79A>G (n.928+79A>G)
c.471+79A>G
 gnomAD v4
Xg.120442522delCA2823249062LAMP2c.928+79del (n.928+79del)
c.471+79del
Xg.120442522T>GCA335013151LAMP2c.928+77A>C (n.928+77A>C)
c.471+77A>C
 dbSNP gnomAD v3 gnomAD v4
Xg.120442522T=CA2454871169LAMP2c.928+77A= (n.928+77A=)
c.471+77A=
Xg.120442523G>TCA2579692110LAMP2c.928+76C>A (n.928+76C>A)
c.471+76C>A
 gnomAD v4
Xg.120442524G>ACA2579692111LAMP2c.928+75C>T (n.928+75C>T)
c.471+75C>T
Xg.120442524G>TCA2694597870LAMP2c.928+75C>A (n.928+75C>A)
c.471+75C>A
 gnomAD v4
Xg.120442525T>GCA2579692112LAMP2c.928+74A>C (n.928+74A>C)
c.471+74A>C
Xg.120442526A>TCA2694597871LAMP2c.928+73T>A (n.928+73T>A)
c.471+73T>A
 gnomAD v4
Xg.120442528T>ACA2694597872LAMP2c.928+71A>T (n.928+71A>T)
c.471+71A>T
 gnomAD v4
Xg.120442529A=CA2454871170LAMP2c.928+70T= (n.928+70T=)
c.471+70T=
Xg.120442529A>GCA1136814540LAMP2c.928+70T>C (n.928+70T>C)
c.471+70T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.120442530delCA2579692113LAMP2c.928+70del (n.928+70del)
c.471+70del
Xg.120442531G>ACA870729182LAMP2c.928+68C>T (n.928+68C>T)
c.471+68C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.120442531G=CA2454871171LAMP2c.928+68C= (n.928+68C=)
c.471+68C=
Xg.120442531G>TCA2694597873LAMP2c.928+68C>A (n.928+68C>A)
c.471+68C>A
 gnomAD v4
Xg.120442532A>TCA2579692114LAMP2c.928+67T>A (n.928+67T>A)
c.471+67T>A
Xg.120442534C>GCA2579692115LAMP2c.928+65G>C (n.928+65G>C)
c.471+65G>C
 gnomAD v4
Xg.120442534C>TCA2579692116LAMP2c.928+65G>A (n.928+65G>A)
c.471+65G>A
Xg.120442535A=CA2454871172LAMP2c.928+64T= (n.928+64T=)
c.471+64T=
Xg.120442535A>GCA2454871173LAMP2c.928+64T>C (n.928+64T>C)
c.471+64T>C
 dbSNP gnomAD v4
Xg.120442536T>CCA870729186LAMP2c.928+63A>G (n.928+63A>G)
c.471+63A>G
 dbSNP gnomAD v4
Xg.120442536T>GCA2694597874LAMP2c.928+63A>C (n.928+63A>C)
c.471+63A>C
 gnomAD v4
Xg.120442536T=CA2454871174LAMP2c.928+63A= (n.928+63A=)
c.471+63A=
Xg.120442538G>TCA2694597875LAMP2c.928+61C>A (n.928+61C>A)
c.471+61C>A
 gnomAD v4
Xg.120442544T>GCA335013152LAMP2c.928+55A>C (n.928+55A>C)
c.471+55A>C
 dbSNP gnomAD v3 gnomAD v4
Xg.120442544T=CA2454871175LAMP2c.928+55A= (n.928+55A=)
c.471+55A=
Xg.120442548delCA2579692117LAMP2c.928+52del (n.928+52del)
c.471+52del
Xg.120442549T>CCA1136814548LAMP2c.928+50A>G (n.928+50A>G)
c.471+50A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.120442549T=CA2454871176LAMP2c.928+50A= (n.928+50A=)
c.471+50A=
Xg.120442552T>CCA2454871178LAMP2c.928+47A>G (n.928+47A>G)
c.471+47A>G
 dbSNP
Xg.120442552T=CA2454871177LAMP2c.928+47A= (n.928+47A=)
c.471+47A=
Xg.120442553T>ACA2694597876LAMP2c.928+46A>T (n.928+46A>T)
c.471+46A>T
 gnomAD v4
Xg.120442556G>ACA2579692118LAMP2c.928+43C>T (n.928+43C>T)
c.471+43C>T
Xg.120442556G>TCA2694597877LAMP2c.928+43C>A (n.928+43C>A)
c.471+43C>A
 gnomAD v4
Xg.120442557G>ACA2454871180LAMP2c.928+42C>T (n.928+42C>T)
c.471+42C>T
 dbSNP gnomAD v4
Xg.120442557G=CA2454871179LAMP2c.928+42C= (n.928+42C=)
c.471+42C=
Xg.120442557G>TCA2694597878LAMP2c.928+42C>A (n.928+42C>A)
c.471+42C>A
 gnomAD v4
Xg.120442558G>ACA2694597879LAMP2c.928+41C>T (n.928+41C>T)
c.471+41C>T
 gnomAD v4
Xg.120442558G>CCA2694597880LAMP2c.928+41C>G (n.928+41C>G)
c.471+41C>G
 gnomAD v4
Xg.120442558G>TCA2694597881LAMP2c.928+41C>A (n.928+41C>A)
c.471+41C>A
 gnomAD v4
Xg.120442559T>CCA2694597882LAMP2c.928+40A>G (n.928+40A>G)
c.471+40A>G
 gnomAD v4
Xg.120442561dupCA2579692119LAMP2c.928+39dup (n.928+39dup)
c.471+39dup
Xg.120442561A>GCA2694597883LAMP2c.928+38T>C (n.928+38T>C)
c.471+38T>C
 gnomAD v4
Xg.120442561A>TCA2579692120LAMP2c.928+38T>A (n.928+38T>A)
c.471+38T>A
 gnomAD v4
Xg.120442564delCA2694597884LAMP2c.928+36del (n.928+36del)
c.471+36del
 gnomAD v4
Xg.120442566_120442567delCA2694597885LAMP2c.928+34_928+35del (n.928+34_928+35del)
c.471+34_471+35del
 gnomAD v4
Xg.120442565A>TCA2579692121LAMP2c.928+34T>A (n.928+34T>A)
c.471+34T>A
Xg.120442566C>GCA2694597886LAMP2c.928+33G>C (n.928+33G>C)
c.471+33G>C
 gnomAD v4
Xg.120442566C>TCA2579692122LAMP2c.928+33G>A (n.928+33G>A)
c.471+33G>A
 gnomAD v4
Xg.120442567A>GCA2694597887LAMP2c.928+32T>C (n.928+32T>C)
c.471+32T>C
 gnomAD v4
Xg.120442568G>CCA10505226LAMP2c.928+31C>G (n.928+31C>G)
c.471+31C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.120442568G=CA2454871181LAMP2c.928+31C= (n.928+31C=)
c.471+31C=
Xg.120442568G>TCA2694597888LAMP2c.928+31C>A (n.928+31C>A)
c.471+31C>A
 gnomAD v4
Xg.120442569T>CCA2694597889LAMP2c.928+30A>G (n.928+30A>G)
c.471+30A>G
 gnomAD v4
Xg.120442570C>ACA10505227LAMP2c.928+29G>T (n.928+29G>T)
c.471+29G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.120442570C=CA2454871182LAMP2c.928+29G= (n.928+29G=)
c.471+29G=
Xg.120442570C>TCA2694597890LAMP2c.928+29G>A (n.928+29G>A)
c.471+29G>A
 gnomAD v4
Xg.120442570_120442572delinsCTTCA2454871183LAMP2c.928+27_928+29delinsAAG (n.928+27_928+29delinsAAG)
c.471+27_471+29delinsAAG
Xg.120442571T>CCA2694597891LAMP2c.928+28A>G (n.928+28A>G)
c.471+28A>G
 gnomAD v4
Xg.120442575delCA2579692123LAMP2c.928+28del (n.928+28del)
c.471+28del
 gnomAD v4
Xg.120442574_120442575delCA10505228LAMP2c.928+27_928+28del (n.928+27_928+28del)
c.471+27_471+28del
 dbSNP ExAC
Xg.120442573T>CCA10505229LAMP2c.928+26A>G (n.928+26A>G)
c.471+26A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.120442573T=CA2454871184LAMP2c.928+26A= (n.928+26A=)
c.471+26A=
Xg.120442574T>CCA2694597892LAMP2c.928+25A>G (n.928+25A>G)
c.471+25A>G
 gnomAD v4
Xg.120442575T>ACA2694597893LAMP2c.928+24A>T (n.928+24A>T)
c.471+24A>T
 gnomAD v4
Xg.120442575T>CCA2694597894LAMP2c.928+24A>G (n.928+24A>G)
c.471+24A>G
 gnomAD v4
Xg.120442576C>TCA2694597895LAMP2c.928+23G>A (n.928+23G>A)
c.471+23G>A
 gnomAD v4
Xg.120442579delCA2579692125LAMP2c.928+23del (n.928+23del)
c.471+23del
 gnomAD v4
Xg.120442578_120442579delCA2579692124LAMP2c.928+22_928+23del (n.928+22_928+23del)
c.471+22_471+23del
Xg.120442577C>ACA1136814554LAMP2c.928+22G>T (n.928+22G>T)
c.471+22G>T
 dbSNP gnomAD v3 gnomAD v4
Xg.120442577C=CA2454871185LAMP2c.928+22G= (n.928+22G=)
c.471+22G=
Xg.120442577C>TCA2694597896LAMP2c.928+22G>A (n.928+22G>A)
c.471+22G>A
 gnomAD v4
Xg.120442578C>GCA2694597897LAMP2c.928+21G>C (n.928+21G>C)
c.471+21G>C
 gnomAD v4
Xg.120442578C>TCA2694597898LAMP2c.928+21G>A (n.928+21G>A)
c.471+21G>A
 gnomAD v4
Xg.120442579C>ACA2579692126LAMP2c.928+20G>T (n.928+20G>T)
c.471+20G>T
Xg.120442579C>TCA2694597899LAMP2c.928+20G>A (n.928+20G>A)
c.471+20G>A
 gnomAD v4
Xg.120442580A>GCA2694597900LAMP2c.928+19T>C (n.928+19T>C)
c.471+19T>C
 gnomAD v4
Xg.120442581G>ACA2739273744LAMP2c.928+18C>T (n.928+18C>T)
c.471+18C>T
 ClinVar
Xg.120442581G>TCA2579692127LAMP2c.928+18C>A (n.928+18C>A)
c.471+18C>A
 gnomAD v4
Xg.120442582G>ACA2694597901LAMP2c.928+17C>T (n.928+17C>T)
c.471+17C>T
 gnomAD v4
Xg.120442582G>TCA2694597902LAMP2c.928+17C>A (n.928+17C>A)
c.471+17C>A
 gnomAD v4
Xg.120442583C>TCA2694597903LAMP2c.928+16G>A (n.928+16G>A)
c.471+16G>A
 gnomAD v4
Xg.120442583_120442584delCA2823249070LAMP2c.928+15_928+16del (n.928+15_928+16del)
c.471+15_471+16del
Xg.120442584C>TCA2694597904LAMP2c.928+15G>A (n.928+15G>A)
c.471+15G>A
 gnomAD v4
Xg.120442585A>GCA2554005660LAMP2c.928+14T>C (n.928+14T>C)
c.471+14T>C
 gnomAD v4
Xg.120442585A>TCA2694597905LAMP2c.928+14T>A (n.928+14T>A)
c.471+14T>A
 gnomAD v4
Xg.120442586G>TCA2694597906LAMP2c.928+13C>A (n.928+13C>A)
c.471+13C>A
 gnomAD v4
Xg.120442587T>CCA2694597907LAMP2c.928+12A>G (n.928+12A>G)
c.471+12A>G
 gnomAD v4
Xg.120442588G>ACA1136814557LAMP2c.928+11C>T (n.928+11C>T)
c.471+11C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.120442588G=CA2454871186LAMP2c.928+11C= (n.928+11C=)
c.471+11C=
Xg.120442588G>TCA2694597908LAMP2c.928+11C>A (n.928+11C>A)
c.471+11C>A
 gnomAD v4
Xg.120442589C>TCA2694597909LAMP2c.928+10G>A (n.928+10G>A)
c.471+10G>A
 gnomAD v4
Xg.120442590T>CCA2694597910LAMP2c.928+9A>G (n.928+9A>G)
c.471+9A>G
 gnomAD v4
Xg.120442591T>ACA2522877580LAMP2c.928+8A>T (n.928+8A>T)
c.471+8A>T
 ClinVar gnomAD v4
Xg.120442592T>CCA2694597911LAMP2c.928+7A>G (n.928+7A>G)
c.471+7A>G
 gnomAD v4
Xg.120442593G>ACA10505230LAMP2c.928+6C>T (n.928+6C>T)
c.471+6C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.120442593G=CA2454871187LAMP2c.928+6C= (n.928+6C=)
c.471+6C=
Xg.120442593G>TCA2579692128LAMP2c.928+6C>A (n.928+6C>A)
c.471+6C>A
Xg.120442594C>TCA2739273745LAMP2c.928+5G>A (n.928+5G>A)
c.471+5G>A
 ClinVar
Xg.120442595T>CCA915952473LAMP2c.928+4A>G (n.928+4A>G)
c.471+4A>G
 ClinVar dbSNP
Xg.120442595T=CA2454871188LAMP2c.928+4A= (n.928+4A=)
c.471+4A=
Xg.120442596delCA2694597912LAMP2c.928+4del (n.928+4del)
c.471+4del
 gnomAD v4
Xg.120442596T>ACA2499226350LAMP2c.928+3A>T (n.928+3A>T)
c.471+3A>T
 ClinVar dbSNP
Xg.120442596T>CCA2573159176LAMP2c.928+3A>G (n.928+3A>G)
c.471+3A>G
 ClinVar dbSNP gnomAD v4
Xg.120442597A>CCA414400256LAMP2c.928+2T>G (n.928+2T>G)
c.471+2T>G
Xg.120442597A>GCA414400257LAMP2c.928+2T>C (n.928+2T>C)
c.471+2T>C
Xg.120442597A>TCA414400258LAMP2c.928+2T>A (n.928+2T>A)
c.471+2T>A
Xg.120442598C>ACA414400260LAMP2c.928+1G>T (n.928+1G>T)
c.471+1G>T
Xg.120442598C>GCA414400261LAMP2c.928+1G>C (n.928+1G>C)
c.471+1G>C
Xg.120442598C>TCA414400259LAMP2c.928+1G>A (n.928+1G>A)
c.471+1G>A
 gnomAD v4
Xg.120442599C>ACA414400262LAMP2c.928G>T (p.Val310Phe)
c.471G>T
 ClinVar dbSNP
Xg.120442599C=CA2454871189LAMP2c.928G= (p.Val310=)
c.471G=
Xg.120442599C>GCA414400263LAMP2c.928G>C (p.Val310Leu)
c.471G>C
 ClinVar dbSNP
Xg.120442599C>TCA120868LAMP2c.928G>A (p.Val310Ile)
c.471G>A
 ClinVar dbSNP
Xg.120442600G>ACA134214LAMP2c.927C>T (p.Ser309=)
c.470C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.120442600G>CCA518400529LAMP2c.927C>G (p.Ser309=)
c.470C>G
Xg.120442600G=CA2454871190LAMP2c.927C= (p.Ser309=)
c.470C=
Xg.120442600G>TCA518400530LAMP2c.927C>A (p.Ser309=)
c.470C>A
Xg.120442601G>ACA414400266LAMP2c.926C>T (p.Ser309Phe)
c.469C>T
Xg.120442601G>CCA414400265LAMP2c.926C>G (p.Ser309Cys)
c.469C>G
 gnomAD v4
Xg.120442601G>TCA414400264LAMP2c.926C>A (p.Ser309Tyr)
c.469C>A
Xg.120442602A>CCA414400267LAMP2c.925T>G (p.Ser309Ala)
c.468T>G
Xg.120442602A>GCA414400268LAMP2c.925T>C (p.Ser309Pro)
c.468T>C
Xg.120442602A>TCA414400269LAMP2c.925T>A (p.Ser309Thr)
c.468T>A
Xg.120442603G>ACA518400531LAMP2c.924C>T (p.Gly308=)
c.467C>T
Xg.120442603G>CCA518400533LAMP2c.924C>G (p.Gly308=)
c.467C>G
 gnomAD v4
Xg.120442603G>TCA518400532LAMP2c.924C>A (p.Gly308=)
c.467C>A
 gnomAD v4
Xg.120442604C>ACA414400270LAMP2c.923G>T (p.Gly308Val)
c.466G>T
Xg.120442604C>GCA414400271LAMP2c.923G>C (p.Gly308Ala)
c.466G>C
Xg.120442604C>TCA414400272LAMP2c.923G>A (p.Gly308Asp)
c.466G>A
Xg.120442605C>ACA414400273LAMP2c.922G>T (p.Gly308Cys)
c.465G>T
Xg.120442605C>GCA414400275LAMP2c.922G>C (p.Gly308Arg)
c.465G>C
Xg.120442605C>TCA414400274LAMP2c.922G>A (p.Gly308Ser)
c.465G>A
Xg.120442606A>CCA414400276LAMP2c.921T>G (p.Asn307Lys)
c.464T>G
Xg.120442606A>GCA518400534LAMP2c.921T>C (p.Asn307=)
c.464T>C
Xg.120442606A>TCA414400277LAMP2c.921T>A (p.Asn307Lys)
c.464T>A
 ClinVar
Xg.120442607T>ACA414400278LAMP2c.920A>T (p.Asn307Ile)
c.463A>T
Xg.120442607T>CCA10505231LAMP2c.920A>G (p.Asn307Ser)
c.463A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.120442607T>GCA414400279LAMP2c.920A>C (p.Asn307Thr)
c.463A>C
Xg.120442607T=CA2454871191LAMP2c.920A= (p.Asn307=)
c.463A=
Xg.120442608T>ACA414400280LAMP2c.919A>T (p.Asn307Tyr)
c.462A>T
Xg.120442608T>CCA414400281LAMP2c.919A>G (p.Asn307Asp)
c.462A>G
 ClinVar dbSNP
Xg.120442608T>GCA414400282LAMP2c.919A>C (p.Asn307His)
c.462A>C
Xg.120442609A>CCA518400535LAMP2c.918T>G (p.Val306=)
c.461T>G
Xg.120442609A>GCA518400536LAMP2c.918T>C (p.Val306=)
c.461T>C
Xg.120442609A>TCA518400537LAMP2c.918T>A (p.Val306=)
c.461T>A
Xg.120442610A>CCA414400283LAMP2c.917T>G (p.Val306Gly)
c.460T>G
Xg.120442610A>GCA414400284LAMP2c.917T>C (p.Val306Ala)
c.460T>C
Xg.120442610A>TCA414400285LAMP2c.917T>A (p.Val306Asp)
c.460T>A
Xg.120442611C>ACA414400286LAMP2c.916G>T (p.Val306Phe)
c.459G>T
Xg.120442611C>GCA414400287LAMP2c.916G>C (p.Val306Leu)
c.459G>C
Xg.120442611C>TCA414400288LAMP2c.916G>A (p.Val306Ile)
c.459G>A
Xg.120442612C>ACA414400290LAMP2c.915G>T (p.Leu305Phe)
c.458G>T
Xg.120442612C>GCA414400289LAMP2c.915G>C (p.Leu305Phe)
c.458G>C
Xg.120442612C>TCA518400538LAMP2c.915G>A (p.Leu305=)
c.458G>A
Xg.120442613A>CCA414400291LAMP2c.914T>G (p.Leu305Trp)
c.457T>G
Xg.120442613A>GCA414400292LAMP2c.914T>C (p.Leu305Ser)
c.457T>C
Xg.120442613A>TCA414400293LAMP2c.914T>A (p.Leu305Ter)
c.457T>A
Xg.120442614_120442617delCA2580100275LAMP2c.911_914del (p.Tyr304TrpfsTer?)
c.454_457del
 ClinVar
Xg.120442614A>CCA414400294LAMP2c.913T>G (p.Leu305Val)
c.456T>G
 gnomAD v4
Xg.120442614A>GCA518400539LAMP2c.913T>C (p.Leu305=)
c.456T>C
Xg.120442614A>TCA414400295LAMP2c.913T>A (p.Leu305Met)
c.456T>A
Xg.120442615A=CA2454871192LAMP2c.912T= (p.Tyr304=)
c.455T=
Xg.120442615A>CCA10577158LAMP2c.912T>G (p.Tyr304Ter)
c.455T>G
 ClinVar dbSNP
Xg.120442615A>GCA518400540LAMP2c.912T>C (p.Tyr304=)
c.455T>C
Xg.120442615A>TCA414400296LAMP2c.912T>A (p.Tyr304Ter)
c.455T>A
Xg.120442616T>ACA414400297LAMP2c.911A>T (p.Tyr304Phe)
c.454A>T
Xg.120442616T>CCA414400298LAMP2c.911A>G (p.Tyr304Cys)
c.454A>G
 gnomAD v4
Xg.120442616T>GCA414400299LAMP2c.911A>C (p.Tyr304Ser)
c.454A>C
Xg.120442617A>CCA414400300LAMP2c.910T>G (p.Tyr304Asp)
c.453T>G
Xg.120442617A>GCA414400301LAMP2c.910T>C (p.Tyr304His)
c.453T>C
 ClinVar dbSNP
Xg.120442617A>TCA414400302LAMP2c.910T>A (p.Tyr304Asn)
c.453T>A
Xg.120442618C>ACA414400303LAMP2c.909G>T (p.Met303Ile)
c.452G>T
Xg.120442618C>GCA414400305LAMP2c.909G>C (p.Met303Ile)
c.452G>C
Xg.120442618C>TCA414400304LAMP2c.909G>A (p.Met303Ile)
c.452G>A
Xg.120442619A=CA2454871193LAMP2c.908T= (p.Met303=)
c.451T=
Xg.120442619A>CCA414400306LAMP2c.908T>G (p.Met303Arg)
c.451T>G
Xg.120442619A>GCA414400307LAMP2c.908T>C (p.Met303Thr)
c.451T>C
Xg.120442619A>TCA414400308LAMP2c.908T>A (p.Met303Lys)
c.451T>A
 dbSNP gnomAD v4

Number of alleles fetched