Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21573730_21573731delCA16040719ALPLc.928_929del (p.Ser310ArgfsTer27)
c.73-2003_73-2002del
c.697_698del (p.Ser233ArgfsTer27)
c.763_764del (p.Ser255ArgfsTer27)
c.928_929del (p.Ser310ArgfsTer?)
c.772_773del (p.Ser258ArgfsTer27)
 ClinVar dbSNP
1g.21573731C>ACA338880301ALPLc.929C>A (p.Ser310Tyr)
c.73-2002C>A
c.698C>A (p.Ser233Tyr)
c.764C>A (p.Ser255Tyr)
c.773C>A (p.Ser258Tyr)
1g.21573731C>GCA338880302ALPLc.929C>G (p.Ser310Cys)
c.73-2002C>G
c.698C>G (p.Ser233Cys)
c.764C>G (p.Ser255Cys)
c.773C>G (p.Ser258Cys)
1g.21573731C>TCA338880303ALPLc.929C>T (p.Ser310Phe)
c.73-2002C>T
c.698C>T (p.Ser233Phe)
c.764C>T (p.Ser255Phe)
c.773C>T (p.Ser258Phe)
1g.21573732delCA2739272347ALPLc.930del (p.Glu311ArgfsTer?)
c.73-2001del
c.699del (p.Glu234ArgfsTer?)
c.765del (p.Glu256ArgfsTer?)
c.774del (p.Glu259ArgfsTer?)
 ClinVar
1g.21573732C>ACA416532642ALPLc.930C>A (p.Ser310=)
c.73-2001C>A
c.699C>A (p.Ser233=)
c.765C>A (p.Ser255=)
c.774C>A (p.Ser258=)
1g.21573732C=CA1158018344ALPLc.930C= (p.Ser310=)
c.73-2001C=
c.699C= (p.Ser233=)
c.765C= (p.Ser255=)
c.774C= (p.Ser258=)
1g.21573732C>GCA416532643ALPLc.930C>G (p.Ser310=)
c.73-2001C>G
c.699C>G (p.Ser233=)
c.765C>G (p.Ser255=)
c.774C>G (p.Ser258=)
 gnomAD v4
1g.21573732C>TCA666684ALPLc.930C>T (p.Ser310=)
c.73-2001C>T
c.699C>T (p.Ser233=)
c.765C>T (p.Ser255=)
c.774C>T (p.Ser258=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.21573733G>ACA666685ALPLc.931G>A (p.Glu311Lys)
c.73-2000G>A
c.700G>A (p.Glu234Lys)
c.766G>A (p.Glu256Lys)
c.775G>A (p.Glu259Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573733G>CCA338880304ALPLc.931G>C (p.Glu311Gln)
c.73-2000G>C
c.700G>C (p.Glu234Gln)
c.766G>C (p.Glu256Gln)
c.775G>C (p.Glu259Gln)
1g.21573733G=CA1158018345ALPLc.931G= (p.Glu311=)
c.73-2000G=
c.700G= (p.Glu234=)
c.766G= (p.Glu256=)
c.775G= (p.Glu259=)
1g.21573733G>TCA338880305ALPLc.931G>T (p.Glu311Ter)
c.73-2000G>T
c.700G>T (p.Glu234Ter)
c.766G>T (p.Glu256Ter)
c.775G>T (p.Glu259Ter)
 gnomAD v4
1g.21573734A>CCA338880306ALPLc.932A>C (p.Glu311Ala)
c.73-1999A>C
c.701A>C (p.Glu234Ala)
c.767A>C (p.Glu256Ala)
c.776A>C (p.Glu259Ala)
1g.21573734A>GCA338880307ALPLc.932A>G (p.Glu311Gly)
c.73-1999A>G
c.701A>G (p.Glu234Gly)
c.767A>G (p.Glu256Gly)
c.776A>G (p.Glu259Gly)
1g.21573734A>TCA338880308ALPLc.932A>T (p.Glu311Val)
c.73-1999A>T
c.701A>T (p.Glu234Val)
c.767A>T (p.Glu256Val)
c.776A>T (p.Glu259Val)
1g.21573735G>ACA416532644ALPLc.933G>A (p.Glu311=)
c.73-1998G>A
c.702G>A (p.Glu234=)
c.768G>A (p.Glu256=)
c.777G>A (p.Glu259=)
 ClinVar
1g.21573735G>CCA338880310ALPLc.933G>C (p.Glu311Asp)
c.73-1998G>C
c.702G>C (p.Glu234Asp)
c.768G>C (p.Glu256Asp)
c.777G>C (p.Glu259Asp)
1g.21573735G>TCA338880309ALPLc.933G>T (p.Glu311Asp)
c.73-1998G>T
c.702G>T (p.Glu234Asp)
c.768G>T (p.Glu256Asp)
c.777G>T (p.Glu259Asp)
1g.21573736A>CCA338880311ALPLc.934A>C (p.Met312Leu)
c.73-1997A>C
c.703A>C (p.Met235Leu)
c.769A>C (p.Met257Leu)
c.778A>C (p.Met260Leu)
1g.21573736A>GCA338880312ALPLc.934A>G (p.Met312Val)
c.73-1997A>G
c.703A>G (p.Met235Val)
c.769A>G (p.Met257Val)
c.778A>G (p.Met260Val)
 gnomAD v4
1g.21573736A>TCA338880313ALPLc.934A>T (p.Met312Leu)
c.73-1997A>T
c.703A>T (p.Met235Leu)
c.769A>T (p.Met257Leu)
c.778A>T (p.Met260Leu)
1g.21573736_21573739delinsATGGCA1158018346ALPLc.934_937delinsATGG (p.Met312=)
c.73-1997_73-1994delinsATGG
c.703_706delinsATGG (p.Met235=)
c.769_772delinsATGG (p.Met257=)
c.778_781delinsATGG (p.Met260=)
1g.21573737T>ACA338880314ALPLc.935T>A (p.Met312Lys)
c.73-1996T>A
c.704T>A (p.Met235Lys)
c.770T>A (p.Met257Lys)
c.779T>A (p.Met260Lys)
1g.21573737T>CCA338880315ALPLc.935T>C (p.Met312Thr)
c.73-1996T>C
c.704T>C (p.Met235Thr)
c.770T>C (p.Met257Thr)
c.779T>C (p.Met260Thr)
1g.21573737T>GCA338880316ALPLc.935T>G (p.Met312Arg)
c.73-1996T>G
c.704T>G (p.Met235Arg)
c.770T>G (p.Met257Arg)
c.779T>G (p.Met260Arg)
1g.21573746_21573748dupCA2739272348ALPLc.944_946dup (p.Val315_Ala316insVal)
c.73-1987_73-1985dup
c.713_715dup (p.Val238_Ala239insVal)
c.779_781dup (p.Val260_Ala261insVal)
c.788_790dup (p.Val263_Ala264insVal)
 ClinVar
1g.21573746_21573748delCA19068172ALPLc.944_946del (p.Val315del)
c.73-1987_73-1985del
c.713_715del (p.Val238del)
c.779_781del (p.Val260del)
c.788_790del (p.Val263del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573738G>ACA338880317ALPLc.936G>A (p.Met312Ile)
c.73-1995G>A
c.705G>A (p.Met235Ile)
c.771G>A (p.Met257Ile)
c.780G>A (p.Met260Ile)
 COSMIC
1g.21573738G>CCA338880318ALPLc.936G>C (p.Met312Ile)
c.73-1995G>C
c.705G>C (p.Met235Ile)
c.771G>C (p.Met257Ile)
c.780G>C (p.Met260Ile)
1g.21573738G>TCA338880319ALPLc.936G>T (p.Met312Ile)
c.73-1995G>T
c.705G>T (p.Met235Ile)
c.771G>T (p.Met257Ile)
c.780G>T (p.Met260Ile)
1g.21573739G>ACA338880320ALPLc.937G>A (p.Val313Met)
c.73-1994G>A
c.706G>A (p.Val236Met)
c.772G>A (p.Val258Met)
c.781G>A (p.Val261Met)
 COSMIC
1g.21573739G>CCA666686ALPLc.937G>C (p.Val313Leu)
c.73-1994G>C
c.706G>C (p.Val236Leu)
c.772G>C (p.Val258Leu)
c.781G>C (p.Val261Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573739G=CA1146139909ALPLc.937G= (p.Val313=)
c.73-1994G=
c.706G= (p.Val236=)
c.772G= (p.Val258=)
c.781G= (p.Val261=)
1g.21573739G>TCA338880321ALPLc.937G>T (p.Val313Leu)
c.73-1994G>T
c.706G>T (p.Val236Leu)
c.772G>T (p.Val258Leu)
c.781G>T (p.Val261Leu)
1g.21573740T>ACA338880322ALPLc.938T>A (p.Val313Glu)
c.73-1993T>A
c.707T>A (p.Val236Glu)
c.773T>A (p.Val258Glu)
c.782T>A (p.Val261Glu)
1g.21573740T>CCA338880324ALPLc.938T>C (p.Val313Ala)
c.73-1993T>C
c.707T>C (p.Val236Ala)
c.773T>C (p.Val258Ala)
c.782T>C (p.Val261Ala)
1g.21573740T>GCA338880323ALPLc.938T>G (p.Val313Gly)
c.73-1993T>G
c.707T>G (p.Val236Gly)
c.773T>G (p.Val258Gly)
c.782T>G (p.Val261Gly)
1g.21573741G>ACA416532645ALPLc.939G>A (p.Val313=)
c.73-1992G>A
c.708G>A (p.Val236=)
c.774G>A (p.Val258=)
c.783G>A (p.Val261=)
 gnomAD v4
1g.21573741G>CCA416532647ALPLc.939G>C (p.Val313=)
c.73-1992G>C
c.708G>C (p.Val236=)
c.774G>C (p.Val258=)
c.783G>C (p.Val261=)
 dbSNP gnomAD v3 gnomAD v4
1g.21573741G=CA1158018347ALPLc.939G= (p.Val313=)
c.73-1992G=
c.708G= (p.Val236=)
c.774G= (p.Val258=)
c.783G= (p.Val261=)
1g.21573741G>TCA416532646ALPLc.939G>T (p.Val313=)
c.73-1992G>T
c.708G>T (p.Val236=)
c.774G>T (p.Val258=)
c.783G>T (p.Val261=)
1g.21573742G>ACA338880325ALPLc.940G>A (p.Val314Met)
c.73-1991G>A
c.709G>A (p.Val237Met)
c.775G>A (p.Val259Met)
c.784G>A (p.Val262Met)
1g.21573742G>CCA338880326ALPLc.940G>C (p.Val314Leu)
c.73-1991G>C
c.709G>C (p.Val237Leu)
c.775G>C (p.Val259Leu)
c.784G>C (p.Val262Leu)
1g.21573742G>TCA338880327ALPLc.940G>T (p.Val314Leu)
c.73-1991G>T
c.709G>T (p.Val237Leu)
c.775G>T (p.Val259Leu)
c.784G>T (p.Val262Leu)
 ClinVar
1g.21573743T>ACA338880328ALPLc.941T>A (p.Val314Glu)
c.73-1990T>A
c.710T>A (p.Val237Glu)
c.776T>A (p.Val259Glu)
c.785T>A (p.Val262Glu)
1g.21573743T>CCA338880329ALPLc.941T>C (p.Val314Ala)
c.73-1990T>C
c.710T>C (p.Val237Ala)
c.776T>C (p.Val259Ala)
c.785T>C (p.Val262Ala)
1g.21573743T>GCA338880330ALPLc.941T>G (p.Val314Gly)
c.73-1990T>G
c.710T>G (p.Val237Gly)
c.776T>G (p.Val259Gly)
c.785T>G (p.Val262Gly)
1g.21573744G>ACA416532650ALPLc.942G>A (p.Val314=)
c.73-1989G>A
c.711G>A (p.Val237=)
c.777G>A (p.Val259=)
c.786G>A (p.Val262=)
 ClinVar dbSNP
1g.21573744G>CCA416532648ALPLc.942G>C (p.Val314=)
c.73-1989G>C
c.711G>C (p.Val237=)
c.777G>C (p.Val259=)
c.786G>C (p.Val262=)
1g.21573744G>TCA416532649ALPLc.942G>T (p.Val314=)
c.73-1989G>T
c.711G>T (p.Val237=)
c.777G>T (p.Val259=)
c.786G>T (p.Val262=)
1g.21573745G>ACA338880331ALPLc.943G>A (p.Val315Met)
c.73-1988G>A
c.712G>A (p.Val238Met)
c.778G>A (p.Val260Met)
c.787G>A (p.Val263Met)
 gnomAD v4
1g.21573745G>CCA338880332ALPLc.943G>C (p.Val315Leu)
c.73-1988G>C
c.712G>C (p.Val238Leu)
c.778G>C (p.Val260Leu)
c.787G>C (p.Val263Leu)
1g.21573745G>TCA338880333ALPLc.943G>T (p.Val315Leu)
c.73-1988G>T
c.712G>T (p.Val238Leu)
c.778G>T (p.Val260Leu)
c.787G>T (p.Val263Leu)
 ClinVar
1g.21573746T>ACA338880334ALPLc.944T>A (p.Val315Glu)
c.73-1987T>A
c.713T>A (p.Val238Glu)
c.779T>A (p.Val260Glu)
c.788T>A (p.Val263Glu)
1g.21573746T>CCA338880335ALPLc.944T>C (p.Val315Ala)
c.73-1987T>C
c.713T>C (p.Val238Ala)
c.779T>C (p.Val260Ala)
c.788T>C (p.Val263Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.21573746T>GCA338880336ALPLc.944T>G (p.Val315Gly)
c.73-1987T>G
c.713T>G (p.Val238Gly)
c.779T>G (p.Val260Gly)
c.788T>G (p.Val263Gly)
1g.21573746T=CA1158018348ALPLc.944T= (p.Val315=)
c.73-1987T=
c.713T= (p.Val238=)
c.779T= (p.Val260=)
c.788T= (p.Val263=)
1g.21573747G>ACA416532651ALPLc.945G>A (p.Val315=)
c.73-1986G>A
c.714G>A (p.Val238=)
c.780G>A (p.Val260=)
c.789G>A (p.Val263=)
 COSMIC
1g.21573747G>CCA416532653ALPLc.945G>C (p.Val315=)
c.73-1986G>C
c.714G>C (p.Val238=)
c.780G>C (p.Val260=)
c.789G>C (p.Val263=)
1g.21573747G=CA1158018349ALPLc.945G= (p.Val315=)
c.73-1986G=
c.714G= (p.Val238=)
c.780G= (p.Val260=)
c.789G= (p.Val263=)
1g.21573747G>TCA416532652ALPLc.945G>T (p.Val315=)
c.73-1986G>T
c.714G>T (p.Val238=)
c.780G>T (p.Val260=)
c.789G>T (p.Val263=)
 dbSNP
1g.21573748G>ACA338880339ALPLc.946G>A (p.Ala316Thr)
c.73-1985G>A
c.715G>A (p.Ala239Thr)
c.781G>A (p.Ala261Thr)
c.790G>A (p.Ala264Thr)
1g.21573748G>CCA338880337ALPLc.946G>C (p.Ala316Pro)
c.73-1985G>C
c.715G>C (p.Ala239Pro)
c.781G>C (p.Ala261Pro)
c.790G>C (p.Ala264Pro)
1g.21573748G>TCA338880338ALPLc.946G>T (p.Ala316Ser)
c.73-1985G>T
c.715G>T (p.Ala239Ser)
c.781G>T (p.Ala261Ser)
c.790G>T (p.Ala264Ser)
1g.21573749C>ACA338880340ALPLc.947C>A (p.Ala316Asp)
c.73-1984C>A
c.716C>A (p.Ala239Asp)
c.782C>A (p.Ala261Asp)
c.791C>A (p.Ala264Asp)
1g.21573749C>GCA338880341ALPLc.947C>G (p.Ala316Gly)
c.73-1984C>G
c.716C>G (p.Ala239Gly)
c.782C>G (p.Ala261Gly)
c.791C>G (p.Ala264Gly)
1g.21573749C>TCA338880342ALPLc.947C>T (p.Ala316Val)
c.73-1984C>T
c.716C>T (p.Ala239Val)
c.782C>T (p.Ala261Val)
c.791C>T (p.Ala264Val)
1g.21573750C>ACA416532656ALPLc.948C>A (p.Ala316=)
c.73-1983C>A
c.717C>A (p.Ala239=)
c.783C>A (p.Ala261=)
c.792C>A (p.Ala264=)
 gnomAD v4
1g.21573750C>GCA416532654ALPLc.948C>G (p.Ala316=)
c.73-1983C>G
c.717C>G (p.Ala239=)
c.783C>G (p.Ala261=)
c.792C>G (p.Ala264=)
1g.21573750C>TCA416532655ALPLc.948C>T (p.Ala316=)
c.73-1983C>T
c.717C>T (p.Ala239=)
c.783C>T (p.Ala261=)
c.792C>T (p.Ala264=)
1g.21573751A=CA1158018350ALPLc.949A= (p.Ile317=)
c.73-1982A=
c.718A= (p.Ile240=)
c.784A= (p.Ile262=)
c.793A= (p.Ile265=)
1g.21573751A>CCA338880343ALPLc.949A>C (p.Ile317Leu)
c.73-1982A>C
c.718A>C (p.Ile240Leu)
c.784A>C (p.Ile262Leu)
c.793A>C (p.Ile265Leu)
1g.21573751A>GCA338880344ALPLc.949A>G (p.Ile317Val)
c.73-1982A>G
c.718A>G (p.Ile240Val)
c.784A>G (p.Ile262Val)
c.793A>G (p.Ile265Val)
1g.21573751A>TCA338880345ALPLc.949A>T (p.Ile317Phe)
c.73-1982A>T
c.718A>T (p.Ile240Phe)
c.784A>T (p.Ile262Phe)
c.793A>T (p.Ile265Phe)
 ClinVar dbSNP
1g.21573752T>ACA338880346ALPLc.950T>A (p.Ile317Asn)
c.73-1981T>A
c.719T>A (p.Ile240Asn)
c.785T>A (p.Ile262Asn)
c.794T>A (p.Ile265Asn)
1g.21573752T>CCA338880347ALPLc.950T>C (p.Ile317Thr)
c.73-1981T>C
c.719T>C (p.Ile240Thr)
c.785T>C (p.Ile262Thr)
c.794T>C (p.Ile265Thr)
1g.21573752T>GCA338880348ALPLc.950T>G (p.Ile317Ser)
c.73-1981T>G
c.719T>G (p.Ile240Ser)
c.785T>G (p.Ile262Ser)
c.794T>G (p.Ile265Ser)
1g.21573753C>ACA416532657ALPLc.951C>A (p.Ile317=)
c.73-1980C>A
c.720C>A (p.Ile240=)
c.786C>A (p.Ile262=)
c.795C>A (p.Ile265=)
1g.21573753C>GCA338880349ALPLc.951C>G (p.Ile317Met)
c.73-1980C>G
c.720C>G (p.Ile240Met)
c.786C>G (p.Ile262Met)
c.795C>G (p.Ile265Met)
1g.21573753C>TCA416532658ALPLc.951C>T (p.Ile317=)
c.73-1980C>T
c.720C>T (p.Ile240=)
c.786C>T (p.Ile262=)
c.795C>T (p.Ile265=)
 ClinVar
1g.21573754C>ACA666687ALPLc.952C>A (p.Gln318Lys)
c.73-1979C>A
c.721C>A (p.Gln241Lys)
c.787C>A (p.Gln263Lys)
c.796C>A (p.Gln266Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573754C=CA1158018351ALPLc.952C= (p.Gln318=)
c.73-1979C=
c.721C= (p.Gln241=)
c.787C= (p.Gln263=)
c.796C= (p.Gln266=)
1g.21573754C>GCA338880351ALPLc.952C>G (p.Gln318Glu)
c.73-1979C>G
c.721C>G (p.Gln241Glu)
c.787C>G (p.Gln263Glu)
c.796C>G (p.Gln266Glu)
1g.21573754C>TCA338880350ALPLc.952C>T (p.Gln318Ter)
c.73-1979C>T
c.721C>T (p.Gln241Ter)
c.787C>T (p.Gln263Ter)
c.796C>T (p.Gln266Ter)
 ClinVar
1g.21573754_21573756delCA2574252958ALPLc.952_954del (p.Gln318del)
c.73-1979_73-1977del
c.721_723del (p.Gln241del)
c.787_789del (p.Gln263del)
c.796_798del (p.Gln266del)
1g.21573755A>CCA338880352ALPLc.953A>C (p.Gln318Pro)
c.73-1978A>C
c.722A>C (p.Gln241Pro)
c.788A>C (p.Gln263Pro)
c.797A>C (p.Gln266Pro)
1g.21573755A>GCA338880354ALPLc.953A>G (p.Gln318Arg)
c.73-1978A>G
c.722A>G (p.Gln241Arg)
c.788A>G (p.Gln263Arg)
c.797A>G (p.Gln266Arg)
1g.21573755A>TCA338880353ALPLc.953A>T (p.Gln318Leu)
c.73-1978A>T
c.722A>T (p.Gln241Leu)
c.788A>T (p.Gln263Leu)
c.797A>T (p.Gln266Leu)
1g.21573756G>ACA416532659ALPLc.954G>A (p.Gln318=)
c.73-1977G>A
c.723G>A (p.Gln241=)
c.789G>A (p.Gln263=)
c.798G>A (p.Gln266=)
 ClinVar
1g.21573756G>CCA338880355ALPLc.954G>C (p.Gln318His)
c.73-1977G>C
c.723G>C (p.Gln241His)
c.789G>C (p.Gln263His)
c.798G>C (p.Gln266His)
 gnomAD v4
1g.21573756G>TCA338880356ALPLc.954G>T (p.Gln318His)
c.73-1977G>T
c.723G>T (p.Gln241His)
c.789G>T (p.Gln263His)
c.798G>T (p.Gln266His)
1g.21573757A=CA1158018352ALPLc.955A= (p.Ile319=)
c.73-1976A=
c.724A= (p.Ile242=)
c.790A= (p.Ile264=)
c.799A= (p.Ile267=)
1g.21573757A>CCA338880357ALPLc.955A>C (p.Ile319Leu)
c.73-1976A>C
c.724A>C (p.Ile242Leu)
c.790A>C (p.Ile264Leu)
c.799A>C (p.Ile267Leu)
1g.21573757A>GCA338880358ALPLc.955A>G (p.Ile319Val)
c.73-1976A>G
c.724A>G (p.Ile242Val)
c.790A>G (p.Ile264Val)
c.799A>G (p.Ile267Val)
 dbSNP gnomAD v2
1g.21573757A>TCA338880359ALPLc.955A>T (p.Ile319Phe)
c.73-1976A>T
c.724A>T (p.Ile242Phe)
c.790A>T (p.Ile264Phe)
c.799A>T (p.Ile267Phe)
 gnomAD v4
1g.21573758T>ACA338880360ALPLc.956T>A (p.Ile319Asn)
c.73-1975T>A
c.725T>A (p.Ile242Asn)
c.791T>A (p.Ile264Asn)
c.800T>A (p.Ile267Asn)
1g.21573758T>CCA338880361ALPLc.956T>C (p.Ile319Thr)
c.73-1975T>C
c.725T>C (p.Ile242Thr)
c.791T>C (p.Ile264Thr)
c.800T>C (p.Ile267Thr)
1g.21573758T>GCA338880362ALPLc.956T>G (p.Ile319Ser)
c.73-1975T>G
c.725T>G (p.Ile242Ser)
c.791T>G (p.Ile264Ser)
c.800T>G (p.Ile267Ser)
1g.21573759C>ACA416532660ALPLc.957C>A (p.Ile319=)
c.73-1974C>A
c.726C>A (p.Ile242=)
c.792C>A (p.Ile264=)
c.801C>A (p.Ile267=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21573759C=CA1158018353ALPLc.957C= (p.Ile319=)
c.73-1974C=
c.726C= (p.Ile242=)
c.792C= (p.Ile264=)
c.801C= (p.Ile267=)
1g.21573759C>GCA338880363ALPLc.957C>G (p.Ile319Met)
c.73-1974C>G
c.726C>G (p.Ile242Met)
c.792C>G (p.Ile264Met)
c.801C>G (p.Ile267Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573759C>TCA416532661ALPLc.957C>T (p.Ile319=)
c.73-1974C>T
c.726C>T (p.Ile242=)
c.792C>T (p.Ile264=)
c.801C>T (p.Ile267=)
1g.21573760C>ACA338880364ALPLc.958C>A (p.Leu320Met)
c.73-1973C>A
c.727C>A (p.Leu243Met)
c.793C>A (p.Leu265Met)
c.802C>A (p.Leu268Met)
1g.21573760C=CA1158018354ALPLc.958C= (p.Leu320=)
c.73-1973C=
c.727C= (p.Leu243=)
c.793C= (p.Leu265=)
c.802C= (p.Leu268=)
1g.21573760C>GCA666688ALPLc.958C>G (p.Leu320Val)
c.73-1973C>G
c.727C>G (p.Leu243Val)
c.793C>G (p.Leu265Val)
c.802C>G (p.Leu268Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573760C>TCA416532662ALPLc.958C>T (p.Leu320=)
c.73-1973C>T
c.727C>T (p.Leu243=)
c.793C>T (p.Leu265=)
c.802C>T (p.Leu268=)
1g.21573761T>ACA338880367ALPLc.959T>A (p.Leu320Gln)
c.73-1972T>A
c.728T>A (p.Leu243Gln)
c.794T>A (p.Leu265Gln)
c.803T>A (p.Leu268Gln)
1g.21573761T>CCA338880366ALPLc.959T>C (p.Leu320Pro)
c.73-1972T>C
c.728T>C (p.Leu243Pro)
c.794T>C (p.Leu265Pro)
c.803T>C (p.Leu268Pro)
1g.21573761T>GCA338880365ALPLc.959T>G (p.Leu320Arg)
c.73-1972T>G
c.728T>G (p.Leu243Arg)
c.794T>G (p.Leu265Arg)
c.803T>G (p.Leu268Arg)
1g.21573762G>ACA416532665ALPLc.960G>A (p.Leu320=)
c.73-1971G>A
c.729G>A (p.Leu243=)
c.795G>A (p.Leu265=)
c.804G>A (p.Leu268=)
1g.21573762G>CCA416532663ALPLc.960G>C (p.Leu320=)
c.73-1971G>C
c.729G>C (p.Leu243=)
c.795G>C (p.Leu265=)
c.804G>C (p.Leu268=)
1g.21573762G>TCA416532664ALPLc.960G>T (p.Leu320=)
c.73-1971G>T
c.729G>T (p.Leu243=)
c.795G>T (p.Leu265=)
c.804G>T (p.Leu268=)
1g.21573763_21573764delCA913072853ALPLc.961_962del (p.Arg321GlufsTer16)
c.73-1970_73-1969del
c.730_731del (p.Arg244GlufsTer16)
c.796_797del (p.Arg266GlufsTer16)
c.961_962del (p.Arg321GlufsTer20)
c.805_806del (p.Arg269GlufsTer16)
1g.21573762_21573763insATCA2568446271ALPLc.960_961insAT (p.Arg321IlefsTer?)
c.73-1971_73-1970insAT
c.729_730insAT (p.Arg244IlefsTer?)
c.795_796insAT (p.Arg266IlefsTer?)
c.804_805insAT (p.Arg269IlefsTer?)
1g.21573763C>ACA416532666ALPLc.961C>A (p.Arg321=)
c.73-1970C>A
c.730C>A (p.Arg244=)
c.796C>A (p.Arg266=)
c.805C>A (p.Arg269=)
 dbSNP gnomAD v3 gnomAD v4
1g.21573763C=CA1143396778ALPLc.961C= (p.Arg321=)
c.73-1970C=
c.730C= (p.Arg244=)
c.796C= (p.Arg266=)
c.805C= (p.Arg269=)
1g.21573763C>GCA338880368ALPLc.961C>G (p.Arg321Gly)
c.73-1970C>G
c.730C>G (p.Arg244Gly)
c.796C>G (p.Arg266Gly)
c.805C>G (p.Arg269Gly)
1g.21573763C>TCA666689ALPLc.961C>T (p.Arg321Trp)
c.73-1970C>T
c.730C>T (p.Arg244Trp)
c.796C>T (p.Arg266Trp)
c.805C>T (p.Arg269Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573763_21573764delinsCGCA1158018355ALPLc.961_962delinsCG (p.Arg321=)
c.73-1970_73-1969delinsCG
c.730_731delinsCG (p.Arg244=)
c.796_797delinsCG (p.Arg266=)
c.805_806delinsCG (p.Arg269=)
1g.21573764G>ACA666690ALPLc.962G>A (p.Arg321Gln)
c.73-1969G>A
c.731G>A (p.Arg244Gln)
c.797G>A (p.Arg266Gln)
c.806G>A (p.Arg269Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573764G>CCA338880369ALPLc.962G>C (p.Arg321Pro)
c.73-1969G>C
c.731G>C (p.Arg244Pro)
c.797G>C (p.Arg266Pro)
c.806G>C (p.Arg269Pro)
1g.21573764G=CA1141632265ALPLc.962G= (p.Arg321=)
c.73-1969G=
c.731G= (p.Arg244=)
c.797G= (p.Arg266=)
c.806G= (p.Arg269=)
1g.21573764G>TCA338880370ALPLc.962G>T (p.Arg321Leu)
c.73-1969G>T
c.731G>T (p.Arg244Leu)
c.797G>T (p.Arg266Leu)
c.806G>T (p.Arg269Leu)
1g.21573765dupCA2643931028ALPLc.963dup (p.Lys322GlufsTer16)
c.73-1968dup
c.732dup (p.Lys245GlufsTer16)
c.798dup (p.Lys267GlufsTer16)
c.963dup (p.Lys322GlufsTer20)
c.807dup (p.Lys270GlufsTer16)
 gnomAD v4
1g.21573765delCA658820989ALPLc.963del (p.Lys322ArgfsTer?)
c.73-1968del
c.732del (p.Lys245ArgfsTer?)
c.798del (p.Lys267ArgfsTer?)
c.807del (p.Lys270ArgfsTer?)
 ClinVar dbSNP
1g.21573764_21573767delinsGGAACA1158018356ALPLc.962_965delinsGGAA (p.Arg321=)
c.73-1969_73-1966delinsGGAA
c.731_734delinsGGAA (p.Arg244=)
c.797_800delinsGGAA (p.Arg266=)
c.806_809delinsGGAA (p.Arg269=)
1g.21573765G>ACA666691ALPLc.963G>A (p.Arg321=)
c.73-1968G>A
c.732G>A (p.Arg244=)
c.798G>A (p.Arg266=)
c.807G>A (p.Arg269=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573765G>CCA416532670ALPLc.963G>C (p.Arg321=)
c.73-1968G>C
c.732G>C (p.Arg244=)
c.798G>C (p.Arg266=)
c.807G>C (p.Arg269=)
1g.21573765G=CA1158018357ALPLc.963G= (p.Arg321=)
c.73-1968G=
c.732G= (p.Arg244=)
c.798G= (p.Arg266=)
c.807G= (p.Arg269=)
1g.21573765G>TCA416532669ALPLc.963G>T (p.Arg321=)
c.73-1968G>T
c.732G>T (p.Arg244=)
c.798G>T (p.Arg266=)
c.807G>T (p.Arg269=)
1g.21573768_21573770delCA731314557ALPLc.966_968del (p.Lys322del)
c.73-1965_73-1963del
c.735_737del (p.Lys245del)
c.801_803del (p.Lys267del)
c.810_812del (p.Lys270del)
 dbSNP gnomAD v4
1g.21573766A>CCA338880371ALPLc.964A>C (p.Lys322Gln)
c.73-1967A>C
c.733A>C (p.Lys245Gln)
c.799A>C (p.Lys267Gln)
c.808A>C (p.Lys270Gln)
1g.21573766A>GCA338880372ALPLc.964A>G (p.Lys322Glu)
c.73-1967A>G
c.733A>G (p.Lys245Glu)
c.799A>G (p.Lys267Glu)
c.808A>G (p.Lys270Glu)
1g.21573766A>TCA338880373ALPLc.964A>T (p.Lys322Ter)
c.73-1967A>T
c.733A>T (p.Lys245Ter)
c.799A>T (p.Lys267Ter)
c.808A>T (p.Lys270Ter)
1g.21573767A>CCA338880374ALPLc.965A>C (p.Lys322Thr)
c.73-1966A>C
c.734A>C (p.Lys245Thr)
c.800A>C (p.Lys267Thr)
c.809A>C (p.Lys270Thr)
1g.21573767A>GCA338880375ALPLc.965A>G (p.Lys322Arg)
c.73-1966A>G
c.734A>G (p.Lys245Arg)
c.800A>G (p.Lys267Arg)
c.809A>G (p.Lys270Arg)
1g.21573767A>TCA338880376ALPLc.965A>T (p.Lys322Met)
c.73-1966A>T
c.734A>T (p.Lys245Met)
c.800A>T (p.Lys267Met)
c.809A>T (p.Lys270Met)
1g.21573768G>ACA666692ALPLc.966G>A (p.Lys322=)
c.73-1965G>A
c.735G>A (p.Lys245=)
c.801G>A (p.Lys267=)
c.810G>A (p.Lys270=)
 dbSNP ExAC gnomAD v2
1g.21573768G>CCA338880378ALPLc.966G>C (p.Lys322Asn)
c.73-1965G>C
c.735G>C (p.Lys245Asn)
c.801G>C (p.Lys267Asn)
c.810G>C (p.Lys270Asn)
1g.21573768G=CA1158018358ALPLc.966G= (p.Lys322=)
c.73-1965G=
c.735G= (p.Lys245=)
c.801G= (p.Lys267=)
c.810G= (p.Lys270=)
1g.21573768G>TCA338880377ALPLc.966G>T (p.Lys322Asn)
c.73-1965G>T
c.735G>T (p.Lys245Asn)
c.801G>T (p.Lys267Asn)
c.810G>T (p.Lys270Asn)
1g.21573769A>CCA338880379ALPLc.967A>C (p.Asn323His)
c.73-1964A>C
c.736A>C (p.Asn246His)
c.802A>C (p.Asn268His)
c.811A>C (p.Asn271His)
1g.21573769A>GCA338880380ALPLc.967A>G (p.Asn323Asp)
c.73-1964A>G
c.736A>G (p.Asn246Asp)
c.802A>G (p.Asn268Asp)
c.811A>G (p.Asn271Asp)
 ClinVar dbSNP
1g.21573769A>TCA338880381ALPLc.967A>T (p.Asn323Tyr)
c.73-1964A>T
c.736A>T (p.Asn246Tyr)
c.802A>T (p.Asn268Tyr)
c.811A>T (p.Asn271Tyr)
1g.21573770A>CCA338880382ALPLc.968A>C (p.Asn323Thr)
c.73-1963A>C
c.737A>C (p.Asn246Thr)
c.803A>C (p.Asn268Thr)
c.812A>C (p.Asn271Thr)
1g.21573770A>GCA338880383ALPLc.968A>G (p.Asn323Ser)
c.73-1963A>G
c.737A>G (p.Asn246Ser)
c.803A>G (p.Asn268Ser)
c.812A>G (p.Asn271Ser)
1g.21573770A>TCA338880384ALPLc.968A>T (p.Asn323Ile)
c.73-1963A>T
c.737A>T (p.Asn246Ile)
c.803A>T (p.Asn268Ile)
c.812A>T (p.Asn271Ile)
 ClinVar dbSNP
1g.21573771C>ACA338880386ALPLc.969C>A (p.Asn323Lys)
c.73-1962C>A
c.738C>A (p.Asn246Lys)
c.804C>A (p.Asn268Lys)
c.813C>A (p.Asn271Lys)
 ClinVar gnomAD v4
1g.21573771C>GCA338880385ALPLc.969C>G (p.Asn323Lys)
c.73-1962C>G
c.738C>G (p.Asn246Lys)
c.804C>G (p.Asn268Lys)
c.813C>G (p.Asn271Lys)
 ClinVar
1g.21573771C>TCA416532676ALPLc.969C>T (p.Asn323=)
c.73-1962C>T
c.738C>T (p.Asn246=)
c.804C>T (p.Asn268=)
c.813C>T (p.Asn271=)
 ClinVar dbSNP gnomAD v4
1g.21573772C>ACA338880387ALPLc.970C>A (p.Pro324Thr)
c.73-1961C>A
c.739C>A (p.Pro247Thr)
c.805C>A (p.Pro269Thr)
c.814C>A (p.Pro272Thr)
1g.21573772C=CA1158018359ALPLc.970C= (p.Pro324=)
c.73-1961C=
c.739C= (p.Pro247=)
c.805C= (p.Pro269=)
c.814C= (p.Pro272=)
1g.21573772C>GCA338880388ALPLc.970C>G (p.Pro324Ala)
c.73-1961C>G
c.739C>G (p.Pro247Ala)
c.805C>G (p.Pro269Ala)
c.814C>G (p.Pro272Ala)
 ClinVar dbSNP
1g.21573772C>TCA338880390ALPLc.970C>T (p.Pro324Ser)
c.73-1961C>T
c.739C>T (p.Pro247Ser)
c.805C>T (p.Pro269Ser)
c.814C>T (p.Pro272Ser)
1g.21573773C>ACA338880391ALPLc.971C>A (p.Pro324His)
c.73-1960C>A
c.740C>A (p.Pro247His)
c.806C>A (p.Pro269His)
c.815C>A (p.Pro272His)
1g.21573773C>GCA338880392ALPLc.971C>G (p.Pro324Arg)
c.73-1960C>G
c.740C>G (p.Pro247Arg)
c.806C>G (p.Pro269Arg)
c.815C>G (p.Pro272Arg)
 gnomAD v4
1g.21573773C>TCA338880393ALPLc.971C>T (p.Pro324Leu)
c.73-1960C>T
c.740C>T (p.Pro247Leu)
c.806C>T (p.Pro269Leu)
c.815C>T (p.Pro272Leu)
 gnomAD v4
1g.21573774C>ACA416532680ALPLc.972C>A (p.Pro324=)
c.73-1959C>A
c.741C>A (p.Pro247=)
c.807C>A (p.Pro269=)
c.816C>A (p.Pro272=)
1g.21573774C>GCA416532678ALPLc.972C>G (p.Pro324=)
c.73-1959C>G
c.741C>G (p.Pro247=)
c.807C>G (p.Pro269=)
c.816C>G (p.Pro272=)
1g.21573774C>TCA416532679ALPLc.972C>T (p.Pro324=)
c.73-1959C>T
c.741C>T (p.Pro247=)
c.807C>T (p.Pro269=)
c.816C>T (p.Pro272=)
1g.21573775A>CCA338880394ALPLc.973A>C (p.Lys325Gln)
c.73-1958A>C
c.742A>C (p.Lys248Gln)
c.808A>C (p.Lys270Gln)
c.817A>C (p.Lys273Gln)
1g.21573775A>GCA338880396ALPLc.973A>G (p.Lys325Glu)
c.73-1958A>G
c.742A>G (p.Lys248Glu)
c.808A>G (p.Lys270Glu)
c.817A>G (p.Lys273Glu)
1g.21573775A>TCA338880395ALPLc.973A>T (p.Lys325Ter)
c.73-1958A>T
c.742A>T (p.Lys248Ter)
c.808A>T (p.Lys270Ter)
c.817A>T (p.Lys273Ter)
1g.21573776A>CCA338880397ALPLc.974A>C (p.Lys325Thr)
c.73-1957A>C
c.743A>C (p.Lys248Thr)
c.809A>C (p.Lys270Thr)
c.818A>C (p.Lys273Thr)
1g.21573776A>GCA338880398ALPLc.974A>G (p.Lys325Arg)
c.73-1957A>G
c.743A>G (p.Lys248Arg)
c.809A>G (p.Lys270Arg)
c.818A>G (p.Lys273Arg)
1g.21573776A>TCA338880399ALPLc.974A>T (p.Lys325Ile)
c.73-1957A>T
c.743A>T (p.Lys248Ile)
c.809A>T (p.Lys270Ile)
c.818A>T (p.Lys273Ile)
1g.21573777A>CCA338880400ALPLc.975A>C (p.Lys325Asn)
c.73-1956A>C
c.744A>C (p.Lys248Asn)
c.810A>C (p.Lys270Asn)
c.819A>C (p.Lys273Asn)
1g.21573777A>GCA416532681ALPLc.975A>G (p.Lys325=)
c.73-1956A>G
c.744A>G (p.Lys248=)
c.810A>G (p.Lys270=)
c.819A>G (p.Lys273=)
1g.21573777A>TCA338880401ALPLc.975A>T (p.Lys325Asn)
c.73-1956A>T
c.744A>T (p.Lys248Asn)
c.810A>T (p.Lys270Asn)
c.819A>T (p.Lys273Asn)
 COSMIC
1g.21573778G>ACA338880402ALPLc.976G>A (p.Gly326Ser)
c.73-1955G>A
c.745G>A (p.Gly249Ser)
c.811G>A (p.Gly271Ser)
c.820G>A (p.Gly274Ser)
1g.21573778G>CCA338880403ALPLc.976G>C (p.Gly326Arg)
c.73-1955G>C
c.745G>C (p.Gly249Arg)
c.811G>C (p.Gly271Arg)
c.820G>C (p.Gly274Arg)
 ClinVar dbSNP gnomAD v4
1g.21573778G=CA1158018360ALPLc.976G= (p.Gly326=)
c.73-1955G=
c.745G= (p.Gly249=)
c.811G= (p.Gly271=)
c.820G= (p.Gly274=)
1g.21573778G>TCA338880404ALPLc.976G>T (p.Gly326Cys)
c.73-1955G>T
c.745G>T (p.Gly249Cys)
c.811G>T (p.Gly271Cys)
c.820G>T (p.Gly274Cys)
1g.21573779G>ACA338880405ALPLc.977G>A (p.Gly326Asp)
c.73-1954G>A
c.746G>A (p.Gly249Asp)
c.812G>A (p.Gly271Asp)
c.821G>A (p.Gly274Asp)
1g.21573779G>CCA338880406ALPLc.977G>C (p.Gly326Ala)
c.73-1954G>C
c.746G>C (p.Gly249Ala)
c.812G>C (p.Gly271Ala)
c.821G>C (p.Gly274Ala)
1g.21573779G=CA1148264970ALPLc.977G= (p.Gly326=)
c.73-1954G=
c.746G= (p.Gly249=)
c.812G= (p.Gly271=)
c.821G= (p.Gly274=)
1g.21573779G>TCA666694ALPLc.977G>T (p.Gly326Val)
c.73-1954G>T
c.746G>T (p.Gly249Val)
c.812G>T (p.Gly271Val)
c.821G>T (p.Gly274Val)
 dbSNP ExAC gnomAD v2
1g.21573779_21573782delinsGCTTCA1158018361ALPLc.977_980delinsGCTT (p.Gly326=)
c.73-1954_73-1951delinsGCTT
c.746_749delinsGCTT (p.Gly249=)
c.812_815delinsGCTT (p.Gly271=)
c.821_824delinsGCTT (p.Gly274=)
1g.21573780C>ACA416532683ALPLc.978C>A (p.Gly326=)
c.73-1953C>A
c.747C>A (p.Gly249=)
c.813C>A (p.Gly271=)
c.822C>A (p.Gly274=)
1g.21573780C>GCA416532684ALPLc.978C>G (p.Gly326=)
c.73-1953C>G
c.747C>G (p.Gly249=)
c.813C>G (p.Gly271=)
c.822C>G (p.Gly274=)
1g.21573780C>TCA416532685ALPLc.978C>T (p.Gly326=)
c.73-1953C>T
c.747C>T (p.Gly249=)
c.813C>T (p.Gly271=)
c.822C>T (p.Gly274=)
 gnomAD v4
1g.21573786_21573788delCA666693ALPLc.984_986del (p.Phe328del)
c.73-1947_73-1945del
c.753_755del (p.Phe251del)
c.819_821del (p.Phe273del)
c.828_830del (p.Phe276del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573781T>ACA338880407ALPLc.979T>A (p.Phe327Ile)
c.73-1952T>A
c.748T>A (p.Phe250Ile)
c.814T>A (p.Phe272Ile)
c.823T>A (p.Phe275Ile)
1g.21573781T>CCA256930ALPLc.979T>C (p.Phe327Leu)
c.73-1952T>C
c.748T>C (p.Phe250Leu)
c.814T>C (p.Phe272Leu)
c.823T>C (p.Phe275Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573781T>GCA338880408ALPLc.979T>G (p.Phe327Val)
c.73-1952T>G
c.748T>G (p.Phe250Val)
c.814T>G (p.Phe272Val)
c.823T>G (p.Phe275Val)
 gnomAD v4
1g.21573781T=CA1141580645ALPLc.979T= (p.Phe327=)
c.73-1952T=
c.748T= (p.Phe250=)
c.814T= (p.Phe272=)
c.823T= (p.Phe275=)
1g.21573781_21573782delinsGGCA2580061457ALPLc.979_980delinsGG (p.Phe327Gly)
c.73-1952_73-1951delinsGG
c.748_749delinsGG (p.Phe250Gly)
c.814_815delinsGG (p.Phe272Gly)
c.823_824delinsGG (p.Phe275Gly)
 ClinVar
1g.21573782T>ACA338880409ALPLc.980T>A (p.Phe327Tyr)
c.73-1951T>A
c.749T>A (p.Phe250Tyr)
c.815T>A (p.Phe272Tyr)
c.824T>A (p.Phe275Tyr)
1g.21573782T>CCA338880410ALPLc.980T>C (p.Phe327Ser)
c.73-1951T>C
c.749T>C (p.Phe250Ser)
c.815T>C (p.Phe272Ser)
c.824T>C (p.Phe275Ser)
1g.21573782T>GCA666695ALPLc.980T>G (p.Phe327Cys)
c.73-1951T>G
c.749T>G (p.Phe250Cys)
c.815T>G (p.Phe272Cys)
c.824T>G (p.Phe275Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573782T=CA1158018362ALPLc.980T= (p.Phe327=)
c.73-1951T=
c.749T= (p.Phe250=)
c.815T= (p.Phe272=)
c.824T= (p.Phe275=)
1g.21573783C>ACA338880411ALPLc.981C>A (p.Phe327Leu)
c.73-1950C>A
c.750C>A (p.Phe250Leu)
c.816C>A (p.Phe272Leu)
c.825C>A (p.Phe275Leu)
 gnomAD v4
1g.21573783C>GCA338880412ALPLc.981C>G (p.Phe327Leu)
c.73-1950C>G
c.750C>G (p.Phe250Leu)
c.816C>G (p.Phe272Leu)
c.825C>G (p.Phe275Leu)
 ClinVar
1g.21573783C>TCA416532686ALPLc.981C>T (p.Phe327=)
c.73-1950C>T
c.750C>T (p.Phe250=)
c.816C>T (p.Phe272=)
c.825C>T (p.Phe275=)
 gnomAD v4
1g.21573784T>ACA338880413ALPLc.982T>A (p.Phe328Ile)
c.73-1949T>A
c.751T>A (p.Phe251Ile)
c.817T>A (p.Phe273Ile)
c.826T>A (p.Phe276Ile)
1g.21573784T>CCA338880414ALPLc.982T>C (p.Phe328Leu)
c.73-1949T>C
c.751T>C (p.Phe251Leu)
c.817T>C (p.Phe273Leu)
c.826T>C (p.Phe276Leu)
1g.21573784T>GCA338880415ALPLc.982T>G (p.Phe328Val)
c.73-1949T>G
c.751T>G (p.Phe251Val)
c.817T>G (p.Phe273Val)
c.826T>G (p.Phe276Val)
1g.21573785T>ACA338880416ALPLc.983T>A (p.Phe328Tyr)
c.73-1948T>A
c.752T>A (p.Phe251Tyr)
c.818T>A (p.Phe273Tyr)
c.827T>A (p.Phe276Tyr)
1g.21573785T>CCA338880417ALPLc.983T>C (p.Phe328Ser)
c.73-1948T>C
c.752T>C (p.Phe251Ser)
c.818T>C (p.Phe273Ser)
c.827T>C (p.Phe276Ser)
1g.21573785T>GCA338880418ALPLc.983T>G (p.Phe328Cys)
c.73-1948T>G
c.752T>G (p.Phe251Cys)
c.818T>G (p.Phe273Cys)
c.827T>G (p.Phe276Cys)
1g.21573786C>ACA338880419ALPLc.984C>A (p.Phe328Leu)
c.73-1947C>A
c.753C>A (p.Phe251Leu)
c.819C>A (p.Phe273Leu)
c.828C>A (p.Phe276Leu)
1g.21573786C=CA1158018363ALPLc.984C= (p.Phe328=)
c.73-1947C=
c.753C= (p.Phe251=)
c.819C= (p.Phe273=)
c.828C= (p.Phe276=)
1g.21573786C>GCA338880420ALPLc.984C>G (p.Phe328Leu)
c.73-1947C>G
c.753C>G (p.Phe251Leu)
c.819C>G (p.Phe273Leu)
c.828C>G (p.Phe276Leu)
 ClinVar gnomAD v4
1g.21573786C>TCA416532687ALPLc.984C>T (p.Phe328=)
c.73-1947C>T
c.753C>T (p.Phe251=)
c.819C>T (p.Phe273=)
c.828C>T (p.Phe276=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21573787T>ACA338880421ALPLc.985T>A (p.Leu329Met)
c.73-1946T>A
c.754T>A (p.Leu252Met)
c.820T>A (p.Leu274Met)
c.829T>A (p.Leu277Met)
1g.21573787T>CCA416532689ALPLc.985T>C (p.Leu329=)
c.73-1946T>C
c.754T>C (p.Leu252=)
c.820T>C (p.Leu274=)
c.829T>C (p.Leu277=)
 gnomAD v4
1g.21573787T>GCA338880422ALPLc.985T>G (p.Leu329Val)
c.73-1946T>G
c.754T>G (p.Leu252Val)
c.820T>G (p.Leu274Val)
c.829T>G (p.Leu277Val)
1g.21573788T>ACA338880425ALPLc.986T>A (p.Leu329Ter)
c.73-1945T>A
c.755T>A (p.Leu252Ter)
c.821T>A (p.Leu274Ter)
c.830T>A (p.Leu277Ter)
1g.21573788T>CCA338880423ALPLc.986T>C (p.Leu329Ser)
c.73-1945T>C
c.755T>C (p.Leu252Ser)
c.821T>C (p.Leu274Ser)
c.830T>C (p.Leu277Ser)
1g.21573788T>GCA338880424ALPLc.986T>G (p.Leu329Trp)
c.73-1945T>G
c.755T>G (p.Leu252Trp)
c.821T>G (p.Leu274Trp)
c.830T>G (p.Leu277Trp)
1g.21573789G>ACA416532690ALPLc.987G>A (p.Leu329=)
c.73-1944G>A
c.756G>A (p.Leu252=)
c.822G>A (p.Leu274=)
c.831G>A (p.Leu277=)
1g.21573789G>CCA338880426ALPLc.987G>C (p.Leu329Phe)
c.73-1944G>C
c.756G>C (p.Leu252Phe)
c.822G>C (p.Leu274Phe)
c.831G>C (p.Leu277Phe)
1g.21573789G>TCA338880427ALPLc.987G>T (p.Leu329Phe)
c.73-1944G>T
c.756G>T (p.Leu252Phe)
c.822G>T (p.Leu274Phe)
c.831G>T (p.Leu277Phe)
1g.21573790C>ACA338880428ALPLc.988C>A (p.Leu330Met)
c.73-1943C>A
c.757C>A (p.Leu253Met)
c.823C>A (p.Leu275Met)
c.832C>A (p.Leu278Met)
1g.21573790C=CA1158018364ALPLc.988C= (p.Leu330=)
c.73-1943C=
c.757C= (p.Leu253=)
c.823C= (p.Leu275=)
c.832C= (p.Leu278=)
1g.21573790C>GCA338880429ALPLc.988C>G (p.Leu330Val)
c.73-1943C>G
c.757C>G (p.Leu253Val)
c.823C>G (p.Leu275Val)
c.832C>G (p.Leu278Val)
 dbSNP
1g.21573790C>TCA416532691ALPLc.988C>T (p.Leu330=)
c.73-1943C>T
c.757C>T (p.Leu253=)
c.823C>T (p.Leu275=)
c.832C>T (p.Leu278=)
1g.21573791T>ACA338880430ALPLc.989T>A (p.Leu330Gln)
c.73-1942T>A
c.758T>A (p.Leu253Gln)
c.824T>A (p.Leu275Gln)
c.833T>A (p.Leu278Gln)
1g.21573791T>CCA338880431ALPLc.989T>C (p.Leu330Pro)
c.73-1942T>C
c.758T>C (p.Leu253Pro)
c.824T>C (p.Leu275Pro)
c.833T>C (p.Leu278Pro)
 gnomAD v4
1g.21573791T>GCA338880432ALPLc.989T>G (p.Leu330Arg)
c.73-1942T>G
c.758T>G (p.Leu253Arg)
c.824T>G (p.Leu275Arg)
c.833T>G (p.Leu278Arg)
1g.21573792G>ACA666696ALPLc.990G>A (p.Leu330=)
c.73-1941G>A
c.759G>A (p.Leu253=)
c.825G>A (p.Leu275=)
c.834G>A (p.Leu278=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573792G>CCA416532692ALPLc.990G>C (p.Leu330=)
c.73-1941G>C
c.759G>C (p.Leu253=)
c.825G>C (p.Leu275=)
c.834G>C (p.Leu278=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573792G=CA1148439728ALPLc.990G= (p.Leu330=)
c.73-1941G=
c.759G= (p.Leu253=)
c.825G= (p.Leu275=)
c.834G= (p.Leu278=)
1g.21573792G>TCA416532693ALPLc.990G>T (p.Leu330=)
c.73-1941G>T
c.759G>T (p.Leu253=)
c.825G>T (p.Leu275=)
c.834G>T (p.Leu278=)
1g.21573794_21573804dupCA2695497926ALPLc.992_997+5dup
c.73-1939_73-1929dup
c.761_766+5dup
c.827_832+5dup
c.836_841+5dup
 dbSNP
1g.21573793G>ACA338880433ALPLc.991G>A (p.Val331Met)
c.73-1940G>A
c.760G>A (p.Val254Met)
c.826G>A (p.Val276Met)
c.835G>A (p.Val279Met)
1g.21573793G>CCA338880434ALPLc.991G>C (p.Val331Leu)
c.73-1940G>C
c.760G>C (p.Val254Leu)
c.826G>C (p.Val276Leu)
c.835G>C (p.Val279Leu)
1g.21573793G>TCA338880435ALPLc.991G>T (p.Val331Leu)
c.73-1940G>T
c.760G>T (p.Val254Leu)
c.826G>T (p.Val276Leu)
c.835G>T (p.Val279Leu)
 COSMIC
1g.21573794T>ACA338880438ALPLc.992T>A (p.Val331Glu)
c.73-1939T>A
c.761T>A (p.Val254Glu)
c.827T>A (p.Val276Glu)
c.836T>A (p.Val279Glu)
1g.21573794T>CCA338880437ALPLc.992T>C (p.Val331Ala)
c.73-1939T>C
c.761T>C (p.Val254Ala)
c.827T>C (p.Val276Ala)
c.836T>C (p.Val279Ala)
1g.21573794T>GCA338880436ALPLc.992T>G (p.Val331Gly)
c.73-1939T>G
c.761T>G (p.Val254Gly)
c.827T>G (p.Val276Gly)
c.836T>G (p.Val279Gly)
1g.21573795G>ACA416532695ALPLc.993G>A (p.Val331=)
c.73-1938G>A
c.762G>A (p.Val254=)
c.828G>A (p.Val276=)
c.837G>A (p.Val279=)
1g.21573795G>CCA416532696ALPLc.993G>C (p.Val331=)
c.73-1938G>C
c.762G>C (p.Val254=)
c.828G>C (p.Val276=)
c.837G>C (p.Val279=)
1g.21573795G>TCA416532694ALPLc.993G>T (p.Val331=)
c.73-1938G>T
c.762G>T (p.Val254=)
c.828G>T (p.Val276=)
c.837G>T (p.Val279=)
1g.21573796G>ACA666697ALPLc.994G>A (p.Glu332Lys)
c.73-1937G>A
c.763G>A (p.Glu255Lys)
c.829G>A (p.Glu277Lys)
c.838G>A (p.Glu280Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.21573796G>CCA338880439ALPLc.994G>C (p.Glu332Gln)
c.73-1937G>C
c.763G>C (p.Glu255Gln)
c.829G>C (p.Glu277Gln)
c.838G>C (p.Glu280Gln)
1g.21573796G=CA1158018365ALPLc.994G= (p.Glu332=)
c.73-1937G=
c.763G= (p.Glu255=)
c.829G= (p.Glu277=)
c.838G= (p.Glu280=)
1g.21573796G>TCA338880440ALPLc.994G>T (p.Glu332Ter)
c.73-1937G>T
c.763G>T (p.Glu255Ter)
c.829G>T (p.Glu277Ter)
c.838G>T (p.Glu280Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21573797A>CCA338880441ALPLc.995A>C (p.Glu332Ala)
c.73-1936A>C
c.764A>C (p.Glu255Ala)
c.830A>C (p.Glu277Ala)
c.839A>C (p.Glu280Ala)
1g.21573797A>GCA338880442ALPLc.995A>G (p.Glu332Gly)
c.73-1936A>G
c.764A>G (p.Glu255Gly)
c.830A>G (p.Glu277Gly)
c.839A>G (p.Glu280Gly)
1g.21573797A>TCA338880443ALPLc.995A>T (p.Glu332Val)
c.73-1936A>T
c.764A>T (p.Glu255Val)
c.830A>T (p.Glu277Val)
c.839A>T (p.Glu280Val)
1g.21573798A=CA1158018366ALPLc.996A= (p.Glu332=)
c.73-1935A=
c.765A= (p.Glu255=)
c.831A= (p.Glu277=)
c.840A= (p.Glu280=)
1g.21573798A>CCA338880445ALPLc.996A>C (p.Glu332Asp)
c.73-1935A>C
c.765A>C (p.Glu255Asp)
c.831A>C (p.Glu277Asp)
c.840A>C (p.Glu280Asp)
 dbSNP
1g.21573798A>GCA416532697ALPLc.996A>G (p.Glu332=)
c.73-1935A>G
c.765A>G (p.Glu255=)
c.831A>G (p.Glu277=)
c.840A>G (p.Glu280=)
1g.21573798A>TCA338880444ALPLc.996A>T (p.Glu332Asp)
c.73-1935A>T
c.765A>T (p.Glu255Asp)
c.831A>T (p.Glu277Asp)
c.840A>T (p.Glu280Asp)
1g.21573799G>ACA338880446ALPLc.997G>A (p.Gly333Arg)
c.73-1934G>A
c.766G>A (p.Gly256Arg)
c.832G>A (p.Gly278Arg)
c.841G>A (p.Gly281Arg)
 gnomAD v4
1g.21573799G>CCA338880447ALPLc.997G>C (p.Gly333Arg)
c.73-1934G>C
c.766G>C (p.Gly256Arg)
c.832G>C (p.Gly278Arg)
c.841G>C (p.Gly281Arg)
1g.21573799G>TCA338880448ALPLc.997G>T (p.Gly333Ter)
c.73-1934G>T
c.766G>T (p.Gly256Ter)
c.832G>T (p.Gly278Ter)
c.841G>T (p.Gly281Ter)
 ClinVar dbSNP gnomAD v4
1g.21573800delCA2586964059ALPLc.997+1del
c.73-1933del
c.766+1del
c.832+1del
c.841+1del
1g.21573799_21573802delinsGGTACA1158018367ALPLc.997_997+3delinsGGTA
c.73-1934_73-1931delinsGGTA
c.766_766+3delinsGGTA
c.832_832+3delinsGGTA
c.841_841+3delinsGGTA
1g.21573800G>ACA338880449ALPLc.997+1G>A (n.997+1G>A)
c.73-1933G>A
c.766+1G>A (n.766+1G>A)
c.832+1G>A (n.832+1G>A)
c.841+1G>A (n.841+1G>A)
 gnomAD v4
1g.21573800G>CCA338880450ALPLc.997+1G>C (n.997+1G>C)
c.73-1933G>C
c.766+1G>C (n.766+1G>C)
c.832+1G>C (n.832+1G>C)
c.841+1G>C (n.841+1G>C)
1g.21573800G=CA1158018368ALPLc.997+1G= (n.997+1G=)
c.73-1933G=
c.766+1G= (n.766+1G=)
c.832+1G= (n.832+1G=)
c.841+1G= (n.841+1G=)
1g.21573800G>TCA338880451ALPLc.997+1G>T (n.997+1G>T)
c.73-1933G>T
c.766+1G>T (n.766+1G>T)
c.832+1G>T (n.832+1G>T)
c.841+1G>T (n.841+1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573801_21573803delCA916126600ALPLc.997+2_997+4del (n.997+2_997+4del)
c.73-1932_73-1930del
c.766+2_766+4del (n.766+2_766+4del)
c.832+2_832+4del (n.832+2_832+4del)
c.841+2_841+4del (n.841+2_841+4del)
 dbSNP
1g.21573801T>ACA338880452ALPLc.997+2T>A (n.997+2T>A)
c.73-1932T>A
c.766+2T>A (n.766+2T>A)
c.832+2T>A (n.832+2T>A)
c.841+2T>A (n.841+2T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21573801T>CCA338880453ALPLc.997+2T>C (n.997+2T>C)
c.73-1932T>C
c.766+2T>C (n.766+2T>C)
c.832+2T>C (n.832+2T>C)
c.841+2T>C (n.841+2T>C)
1g.21573801T>GCA16040720ALPLc.997+2T>G (n.997+2T>G)
c.73-1932T>G
c.766+2T>G (n.766+2T>G)
c.832+2T>G (n.832+2T>G)
c.841+2T>G (n.841+2T>G)
 ClinVar dbSNP
1g.21573801T=CA1158018369ALPLc.997+2T= (n.997+2T=)
c.73-1932T=
c.766+2T= (n.766+2T=)
c.832+2T= (n.832+2T=)
c.841+2T= (n.841+2T=)
1g.21573802A=CA1158018370ALPLc.997+3A= (n.997+3A=)
c.73-1931A=
c.766+3A= (n.766+3A=)
c.832+3A= (n.832+3A=)
c.841+3A= (n.841+3A=)
1g.21573802A>CCA2573130539ALPLc.997+3A>C (n.997+3A>C)
c.73-1931A>C
c.766+3A>C (n.766+3A>C)
c.832+3A>C (n.832+3A>C)
c.841+3A>C (n.841+3A>C)
 ClinVar dbSNP
1g.21573802A>GCA658820990ALPLc.997+3A>G (n.997+3A>G)
c.73-1931A>G
c.766+3A>G (n.766+3A>G)
c.832+3A>G (n.832+3A>G)
c.841+3A>G (n.841+3A>G)
 ClinVar dbSNP
1g.21573803G>ACA2508612893ALPLc.997+4G>A (n.997+4G>A)
c.73-1930G>A
c.766+4G>A (n.766+4G>A)
c.832+4G>A (n.832+4G>A)
c.841+4G>A (n.841+4G>A)
1g.21573803G>CCA521577932ALPLc.997+4G>C (n.997+4G>C)
c.73-1930G>C
c.766+4G>C (n.766+4G>C)
c.832+4G>C (n.832+4G>C)
c.841+4G>C (n.841+4G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.21573803G=CA1158018371ALPLc.997+4G= (n.997+4G=)
c.73-1930G=
c.766+4G= (n.766+4G=)
c.832+4G= (n.832+4G=)
c.841+4G= (n.841+4G=)
1g.21573804G>ACA521577933ALPLc.997+5G>A (n.997+5G>A)
c.73-1929G>A
c.766+5G>A (n.766+5G>A)
c.832+5G>A (n.832+5G>A)
c.841+5G>A (n.841+5G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.21573804G=CA1158018372ALPLc.997+5G= (n.997+5G=)
c.73-1929G=
c.766+5G= (n.766+5G=)
c.832+5G= (n.832+5G=)
c.841+5G= (n.841+5G=)
1g.21573806A>GCA2695497956ALPLc.997+7A>G (n.997+7A>G)
c.73-1927A>G
c.766+7A>G (n.766+7A>G)
c.832+7A>G (n.832+7A>G)
c.841+7A>G (n.841+7A>G)
 dbSNP
1g.21573807C>ACA521577934ALPLc.997+8C>A (n.997+8C>A)
c.73-1926C>A
c.766+8C>A (n.766+8C>A)
c.832+8C>A (n.832+8C>A)
c.841+8C>A (n.841+8C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.21573807C=CA1158018373ALPLc.997+8C= (n.997+8C=)
c.73-1926C=
c.766+8C= (n.766+8C=)
c.832+8C= (n.832+8C=)
c.841+8C= (n.841+8C=)
1g.21573807C>GCA2574252988ALPLc.997+8C>G (n.997+8C>G)
c.73-1926C>G
c.766+8C>G (n.766+8C>G)
c.832+8C>G (n.832+8C>G)
c.841+8C>G (n.841+8C>G)
1g.21573807C>TCA2573130540ALPLc.997+8C>T (n.997+8C>T)
c.73-1926C>T
c.766+8C>T (n.766+8C>T)
c.832+8C>T (n.832+8C>T)
c.841+8C>T (n.841+8C>T)
 ClinVar dbSNP
1g.21573808C>ACA2643931029ALPLc.997+9C>A (n.997+9C>A)
c.73-1925C>A
c.766+9C>A (n.766+9C>A)
c.832+9C>A (n.832+9C>A)
c.841+9C>A (n.841+9C>A)
 gnomAD v4
1g.21573808C>TCA2499214462ALPLc.997+9C>T (n.997+9C>T)
c.73-1925C>T
c.766+9C>T (n.766+9C>T)
c.832+9C>T (n.832+9C>T)
c.841+9C>T (n.841+9C>T)
 ClinVar dbSNP gnomAD v4
1g.21573809C=CA1143735363ALPLc.997+10C= (n.997+10C=)
c.73-1924C=
c.766+10C= (n.766+10C=)
c.832+10C= (n.832+10C=)
c.841+10C= (n.841+10C=)
1g.21573809C>GCA731314657ALPLc.997+10C>G (n.997+10C>G)
c.73-1924C>G
c.766+10C>G (n.766+10C>G)
c.832+10C>G (n.832+10C>G)
c.841+10C>G (n.841+10C>G)
 ClinVar dbSNP gnomAD v4
1g.21573809C>TCA666698ALPLc.997+10C>T (n.997+10C>T)
c.73-1924C>T
c.766+10C>T (n.766+10C>T)
c.832+10C>T (n.832+10C>T)
c.841+10C>T (n.841+10C>T)
 dbSNP ExAC gnomAD v2
1g.21573810C=CA1142907275ALPLc.997+11C= (n.997+11C=)
c.73-1923C=
c.766+11C= (n.766+11C=)
c.832+11C= (n.832+11C=)
c.841+11C= (n.841+11C=)
1g.21573810C>GCA999409730ALPLc.997+11C>G (n.997+11C>G)
c.73-1923C>G
c.766+11C>G (n.766+11C>G)
c.832+11C>G (n.832+11C>G)
c.841+11C>G (n.841+11C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.21573810C>TCA666699ALPLc.997+11C>T (n.997+11C>T)
c.73-1923C>T
c.766+11C>T (n.766+11C>T)
c.832+11C>T (n.832+11C>T)
c.841+11C>T (n.841+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573811G>ACA666700ALPLc.997+12G>A (n.997+12G>A)
c.73-1922G>A
c.766+12G>A (n.766+12G>A)
c.832+12G>A (n.832+12G>A)
c.841+12G>A (n.841+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573811G=CA1143554584ALPLc.997+12G= (n.997+12G=)
c.73-1922G=
c.766+12G= (n.766+12G=)
c.832+12G= (n.832+12G=)
c.841+12G= (n.841+12G=)
1g.21573811G>TCA521577935ALPLc.997+12G>T (n.997+12G>T)
c.73-1922G>T
c.766+12G>T (n.766+12G>T)
c.832+12G>T (n.832+12G>T)
c.841+12G>T (n.841+12G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573812G>CCA2574252994ALPLc.997+13G>C (n.997+13G>C)
c.73-1921G>C
c.766+13G>C (n.766+13G>C)
c.832+13G>C (n.832+13G>C)
c.841+13G>C (n.841+13G>C)
1g.21573812G=CA1158018374ALPLc.997+13G= (n.997+13G=)
c.73-1921G=
c.766+13G= (n.766+13G=)
c.832+13G= (n.832+13G=)
c.841+13G= (n.841+13G=)
1g.21573812G>TCA731314667ALPLc.997+13G>T (n.997+13G>T)
c.73-1921G>T
c.766+13G>T (n.766+13G>T)
c.832+13G>T (n.832+13G>T)
c.841+13G>T (n.841+13G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21573813G>ACA2643931030ALPLc.997+14G>A (n.997+14G>A)
c.73-1920G>A
c.766+14G>A (n.766+14G>A)
c.832+14G>A (n.832+14G>A)
c.841+14G>A (n.841+14G>A)
 gnomAD v4
1g.21573813G>CCA521577936ALPLc.997+14G>C (n.997+14G>C)
c.73-1920G>C
c.766+14G>C (n.766+14G>C)
c.832+14G>C (n.832+14G>C)
c.841+14G>C (n.841+14G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573813G=CA1158018375ALPLc.997+14G= (n.997+14G=)
c.73-1920G=
c.766+14G= (n.766+14G=)
c.832+14G= (n.832+14G=)
c.841+14G= (n.841+14G=)
1g.21573814T>CCA731314690ALPLc.997+15T>C (n.997+15T>C)
c.73-1919T>C
c.766+15T>C (n.766+15T>C)
c.832+15T>C (n.832+15T>C)
c.841+15T>C (n.841+15T>C)
 dbSNP
1g.21573814T=CA1158018376ALPLc.997+15T= (n.997+15T=)
c.73-1919T=
c.766+15T= (n.766+15T=)
c.832+15T= (n.832+15T=)
c.841+15T= (n.841+15T=)
1g.21573815C>ACA2643931031ALPLc.997+16C>A (n.997+16C>A)
c.73-1918C>A
c.766+16C>A (n.766+16C>A)
c.832+16C>A (n.832+16C>A)
c.841+16C>A (n.841+16C>A)
 gnomAD v4
1g.21573815C>GCA2740090519ALPLc.997+16C>G (n.997+16C>G)
c.73-1918C>G
c.766+16C>G (n.766+16C>G)
c.832+16C>G (n.832+16C>G)
c.841+16C>G (n.841+16C>G)
 ClinVar
1g.21573815C>TCA2643931032ALPLc.997+16C>T (n.997+16C>T)
c.73-1918C>T
c.766+16C>T (n.766+16C>T)
c.832+16C>T (n.832+16C>T)
c.841+16C>T (n.841+16C>T)
 gnomAD v4
1g.21573816T>ACA1158018378ALPLc.997+17T>A (n.997+17T>A)
c.73-1917T>A
c.766+17T>A (n.766+17T>A)
c.832+17T>A (n.832+17T>A)
c.841+17T>A (n.841+17T>A)
 dbSNP gnomAD v4
1g.21573816T>CCA521577937ALPLc.997+17T>C (n.997+17T>C)
c.73-1917T>C
c.766+17T>C (n.766+17T>C)
c.832+17T>C (n.832+17T>C)
c.841+17T>C (n.841+17T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.21573816T>GCA2643931033ALPLc.997+17T>G (n.997+17T>G)
c.73-1917T>G
c.766+17T>G (n.766+17T>G)
c.832+17T>G (n.832+17T>G)
c.841+17T>G (n.841+17T>G)
 gnomAD v4
1g.21573816T=CA1158018377ALPLc.997+17T= (n.997+17T=)
c.73-1917T=
c.766+17T= (n.766+17T=)
c.832+17T= (n.832+17T=)
c.841+17T= (n.841+17T=)
1g.21573817G>ACA666701ALPLc.997+18G>A (n.997+18G>A)
c.73-1916G>A
c.766+18G>A (n.766+18G>A)
c.832+18G>A (n.832+18G>A)
c.841+18G>A (n.841+18G>A)
 dbSNP ExAC gnomAD v4
1g.21573817G=CA1158018379ALPLc.997+18G= (n.997+18G=)
c.73-1916G=
c.766+18G= (n.766+18G=)
c.832+18G= (n.832+18G=)
c.841+18G= (n.841+18G=)
1g.21573817G>TCA2742754147ALPLc.997+18G>T (n.997+18G>T)
c.73-1916G>T
c.766+18G>T (n.766+18G>T)
c.832+18G>T (n.832+18G>T)
c.841+18G>T (n.841+18G>T)
1g.21573818C>ACA521577938ALPLc.997+19C>A (n.997+19C>A)
c.73-1915C>A
c.766+19C>A (n.766+19C>A)
c.832+19C>A (n.832+19C>A)
c.841+19C>A (n.841+19C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573818C=CA1158018380ALPLc.997+19C= (n.997+19C=)
c.73-1915C=
c.766+19C= (n.766+19C=)
c.832+19C= (n.832+19C=)
c.841+19C= (n.841+19C=)
1g.21573819T>CCA2573130545ALPLc.997+20T>C (n.997+20T>C)
c.73-1914T>C
c.766+20T>C (n.766+20T>C)
c.832+20T>C (n.832+20T>C)
c.841+20T>C (n.841+20T>C)
 ClinVar dbSNP gnomAD v4
1g.21573823_21573824delCA2643931034ALPLc.997+24_997+25del (n.997+24_997+25del)
c.73-1910_73-1909del
c.766+24_766+25del (n.766+24_766+25del)
c.832+24_832+25del (n.832+24_832+25del)
c.841+24_841+25del (n.841+24_841+25del)
 gnomAD v4
1g.21573821A=CA1158018381ALPLc.997+22A= (n.997+22A=)
c.73-1912A=
c.766+22A= (n.766+22A=)
c.832+22A= (n.832+22A=)
c.841+22A= (n.841+22A=)
1g.21573821A>GCA521577939ALPLc.997+22A>G (n.997+22A>G)
c.73-1912A>G
c.766+22A>G (n.766+22A>G)
c.832+22A>G (n.832+22A>G)
c.841+22A>G (n.841+22A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.21573824G>ACA666702ALPLc.997+25G>A (n.997+25G>A)
c.73-1909G>A
c.766+25G>A (n.766+25G>A)
c.832+25G>A (n.832+25G>A)
c.841+25G>A (n.841+25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573824G>CCA666703ALPLc.997+25G>C (n.997+25G>C)
c.73-1909G>C
c.766+25G>C (n.766+25G>C)
c.832+25G>C (n.832+25G>C)
c.841+25G>C (n.841+25G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573824G=CA1158018382ALPLc.997+25G= (n.997+25G=)
c.73-1909G=
c.766+25G= (n.766+25G=)
c.832+25G= (n.832+25G=)
c.841+25G= (n.841+25G=)
1g.21573828dupCA2742754148ALPLc.997+29dup (n.997+29dup)
c.73-1905dup
c.766+29dup (n.766+29dup)
c.832+29dup (n.832+29dup)
c.841+29dup (n.841+29dup)
1g.21573825G>ACA2643931036ALPLc.997+26G>A (n.997+26G>A)
c.73-1908G>A
c.766+26G>A (n.766+26G>A)
c.832+26G>A (n.832+26G>A)
c.841+26G>A (n.841+26G>A)
 gnomAD v4
1g.21573825G>TCA2643931035ALPLc.997+26G>T (n.997+26G>T)
c.73-1908G>T
c.766+26G>T (n.766+26G>T)
c.832+26G>T (n.832+26G>T)
c.841+26G>T (n.841+26G>T)
 gnomAD v4
1g.21573826G>ACA666704ALPLc.997+27G>A (n.997+27G>A)
c.73-1907G>A
c.766+27G>A (n.766+27G>A)
c.832+27G>A (n.832+27G>A)
c.841+27G>A (n.841+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573826G>CCA666705ALPLc.997+27G>C (n.997+27G>C)
c.73-1907G>C
c.766+27G>C (n.766+27G>C)
c.832+27G>C (n.832+27G>C)
c.841+27G>C (n.841+27G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573826G=CA1143719532ALPLc.997+27G= (n.997+27G=)
c.73-1907G=
c.766+27G= (n.766+27G=)
c.832+27G= (n.832+27G=)
c.841+27G= (n.841+27G=)
1g.21573828G=CA1158018383ALPLc.997+29G= (n.997+29G=)
c.73-1905G=
c.766+29G= (n.766+29G=)
c.832+29G= (n.832+29G=)
c.841+29G= (n.841+29G=)
1g.21573828G>TCA666706ALPLc.997+29G>T (n.997+29G>T)
c.73-1905G>T
c.766+29G>T (n.766+29G>T)
c.832+29G>T (n.832+29G>T)
c.841+29G>T (n.841+29G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573830T>CCA731314734ALPLc.997+31T>C (n.997+31T>C)
c.73-1903T>C
c.766+31T>C (n.766+31T>C)
c.832+31T>C (n.832+31T>C)
c.841+31T>C (n.841+31T>C)
 dbSNP
1g.21573830T=CA1158018384ALPLc.997+31T= (n.997+31T=)
c.73-1903T=
c.766+31T= (n.766+31T=)
c.832+31T= (n.832+31T=)
c.841+31T= (n.841+31T=)
1g.21573831G>ACA521577940ALPLc.997+32G>A (n.997+32G>A)
c.73-1902G>A
c.766+32G>A (n.766+32G>A)
c.832+32G>A (n.832+32G>A)
c.841+32G>A (n.841+32G>A)
 dbSNP gnomAD v2
1g.21573831G=CA1158018385ALPLc.997+32G= (n.997+32G=)
c.73-1902G=
c.766+32G= (n.766+32G=)
c.832+32G= (n.832+32G=)
c.841+32G= (n.841+32G=)

Number of alleles fetched